Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.20348852C>A | CA394985928 | UMOD | c.449G>T (p.Cys150Phe) c.548G>T (p.Cys183Phe) c.596G>T (p.Cys199Phe) c.533G>T (p.Cys178Phe) n.674G>T | gnomAD v4 |
16 | g.20348852C>G | CA394985930 | UMOD | c.449G>C (p.Cys150Ser) c.548G>C (p.Cys183Ser) c.596G>C (p.Cys199Ser) c.533G>C (p.Cys178Ser) n.674G>C | |
16 | g.20348852C>T | CA394985932 | UMOD | c.449G>A (p.Cys150Tyr) c.548G>A (p.Cys183Tyr) c.596G>A (p.Cys199Tyr) c.533G>A (p.Cys178Tyr) n.674G>A | gnomAD v4 |
16 | g.20348853A>C | CA394985933 | UMOD | c.448T>G (p.Cys150Gly) c.547T>G (p.Cys183Gly) c.595T>G (p.Cys199Gly) c.532T>G (p.Cys178Gly) n.673T>G | |
16 | g.20348853A>G | CA394985935 | UMOD | c.448T>C (p.Cys150Arg) c.547T>C (p.Cys183Arg) c.595T>C (p.Cys199Arg) c.532T>C (p.Cys178Arg) n.673T>C | gnomAD v4 |
16 | g.20348853A>T | CA394985936 | UMOD | c.448T>A (p.Cys150Ser) c.547T>A (p.Cys183Ser) c.595T>A (p.Cys199Ser) c.532T>A (p.Cys178Ser) n.673T>A | gnomAD v4 |
16 | g.20348854C>A | CA394985937 | UMOD | c.447G>T (p.Glu149Asp) c.546G>T (p.Glu182Asp) c.594G>T (p.Glu198Asp) c.531G>T (p.Glu177Asp) n.672G>T | gnomAD v4 |
16 | g.20348854C= | CA2211942891 | UMOD | c.447G= (p.Glu149=) c.546G= (p.Glu182=) c.594G= (p.Glu198=) c.531G= (p.Glu177=) n.672G= | |
16 | g.20348854C>G | CA394985940 | UMOD | c.447G>C (p.Glu149Asp) c.546G>C (p.Glu182Asp) c.594G>C (p.Glu198Asp) c.531G>C (p.Glu177Asp) n.672G>C | |
16 | g.20348854C>T | CA494097227 | UMOD | c.447G>A (p.Glu149=) c.546G>A (p.Glu182=) c.594G>A (p.Glu198=) c.531G>A (p.Glu177=) n.672G>A | dbSNP gnomAD v4 |
16 | g.20348855T>A | CA394985942 | UMOD | c.446A>T (p.Glu149Val) c.545A>T (p.Glu182Val) c.593A>T (p.Glu198Val) c.530A>T (p.Glu177Val) n.671A>T | |
16 | g.20348855T>C | CA394985943 | UMOD | c.446A>G (p.Glu149Gly) c.545A>G (p.Glu182Gly) c.593A>G (p.Glu198Gly) c.530A>G (p.Glu177Gly) n.671A>G | |
16 | g.20348855T>G | CA394985941 | UMOD | c.446A>C (p.Glu149Ala) c.545A>C (p.Glu182Ala) c.593A>C (p.Glu198Ala) c.530A>C (p.Glu177Ala) n.671A>C | |
16 | g.20348856C>A | CA394985944 | UMOD | c.445G>T (p.Glu149Ter) c.544G>T (p.Glu182Ter) c.592G>T (p.Glu198Ter) c.529G>T (p.Glu177Ter) n.670G>T | gnomAD v4 COSMIC COSMIC |
16 | g.20348856C>G | CA394985945 | UMOD | c.445G>C (p.Glu149Gln) c.544G>C (p.Glu182Gln) c.592G>C (p.Glu198Gln) c.529G>C (p.Glu177Gln) n.670G>C | |
16 | g.20348856C>T | CA394985946 | UMOD | c.445G>A (p.Glu149Lys) c.544G>A (p.Glu182Lys) c.592G>A (p.Glu198Lys) c.529G>A (p.Glu177Lys) n.670G>A | |
16 | g.20348857A= | CA2211942892 | UMOD | c.444T= (p.Cys148=) c.543T= (p.Cys181=) c.591T= (p.Cys197=) c.528T= (p.Cys176=) n.669T= | |
16 | g.20348857A>C | CA394985947 | UMOD | c.444T>G (p.Cys148Trp) c.543T>G (p.Cys181Trp) c.591T>G (p.Cys197Trp) c.528T>G (p.Cys176Trp) n.669T>G | ClinVar dbSNP |
16 | g.20348857A>G | CA494097231 | UMOD | c.444T>C (p.Cys148=) c.543T>C (p.Cys181=) c.591T>C (p.Cys197=) c.528T>C (p.Cys176=) n.669T>C | gnomAD v4 |
16 | g.20348857A>T | CA394985949 | UMOD | c.444T>A (p.Cys148Ter) c.543T>A (p.Cys181Ter) c.591T>A (p.Cys197Ter) c.528T>A (p.Cys176Ter) n.669T>A | |
16 | g.20348858C>A | CA394985950 | UMOD | c.443G>T (p.Cys148Phe) c.542G>T (p.Cys181Phe) c.590G>T (p.Cys197Phe) c.527G>T (p.Cys176Phe) n.668G>T | gnomAD v4 |
16 | g.20348858C= | CA2211942897 | UMOD | c.443G= (p.Cys148=) c.542G= (p.Cys181=) c.590G= (p.Cys197=) c.527G= (p.Cys176=) n.668G= | |
16 | g.20348858C>G | CA394985952 | UMOD | c.443G>C (p.Cys148Ser) c.542G>C (p.Cys181Ser) c.590G>C (p.Cys197Ser) c.527G>C (p.Cys176Ser) n.668G>C | |
16 | g.20348858C>T | CA256238 | UMOD | c.443G>A (p.Cys148Tyr) c.542G>A (p.Cys181Tyr) c.590G>A (p.Cys197Tyr) c.527G>A (p.Cys176Tyr) n.668G>A | ClinVar dbSNP gnomAD v4 |
16 | g.20348859A>C | CA394985953 | UMOD | c.442T>G (p.Cys148Gly) c.541T>G (p.Cys181Gly) c.589T>G (p.Cys197Gly) c.526T>G (p.Cys176Gly) n.667T>G | |
16 | g.20348859A>G | CA394985954 | UMOD | c.442T>C (p.Cys148Arg) c.541T>C (p.Cys181Arg) c.589T>C (p.Cys197Arg) c.526T>C (p.Cys176Arg) n.667T>C | |
16 | g.20348859A>T | CA394985955 | UMOD | c.442T>A (p.Cys148Ser) c.541T>A (p.Cys181Ser) c.589T>A (p.Cys197Ser) c.526T>A (p.Cys176Ser) n.667T>A | ClinVar |
16 | g.20348860G>A | CA494097234 | UMOD | c.441C>T (p.His147=) c.540C>T (p.His180=) c.588C>T (p.His196=) c.525C>T (p.His175=) n.666C>T | gnomAD v4 |
16 | g.20348860G>C | CA394985957 | UMOD | c.441C>G (p.His147Gln) c.540C>G (p.His180Gln) c.588C>G (p.His196Gln) c.525C>G (p.His175Gln) n.666C>G | |
16 | g.20348860G>T | CA394985959 | UMOD | c.441C>A (p.His147Gln) c.540C>A (p.His180Gln) c.588C>A (p.His196Gln) c.525C>A (p.His175Gln) n.666C>A | gnomAD v4 |
16 | g.20348861T>A | CA394985963 | UMOD | c.440A>T (p.His147Leu) c.539A>T (p.His180Leu) c.587A>T (p.His196Leu) c.524A>T (p.His175Leu) n.665A>T | gnomAD v4 |
16 | g.20348861T>C | CA394985962 | UMOD | c.440A>G (p.His147Arg) c.539A>G (p.His180Arg) c.587A>G (p.His196Arg) c.524A>G (p.His175Arg) n.665A>G | |
16 | g.20348861T>G | CA394985961 | UMOD | c.440A>C (p.His147Pro) c.539A>C (p.His180Pro) c.587A>C (p.His196Pro) c.524A>C (p.His175Pro) n.665A>C | |
16 | g.20348862G>A | CA7939446 | UMOD | c.439C>T (p.His147Tyr) c.538C>T (p.His180Tyr) c.586C>T (p.His196Tyr) c.523C>T (p.His175Tyr) n.664C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348862G>C | CA394985966 | UMOD | c.439C>G (p.His147Asp) c.538C>G (p.His180Asp) c.586C>G (p.His196Asp) c.523C>G (p.His175Asp) n.664C>G | gnomAD v4 |
16 | g.20348862G= | CA2211942905 | UMOD | c.439C= (p.His147=) c.538C= (p.His180=) c.586C= (p.His196=) c.523C= (p.His175=) n.664C= | |
16 | g.20348862G>T | CA394985967 | UMOD | c.439C>A (p.His147Asn) c.538C>A (p.His180Asn) c.586C>A (p.His196Asn) c.523C>A (p.His175Asn) n.664C>A | gnomAD v4 |
16 | g.20348863C>A | CA394985968 | UMOD | c.438G>T (p.Trp146Cys) c.537G>T (p.Trp179Cys) c.585G>T (p.Trp195Cys) c.522G>T (p.Trp174Cys) n.663G>T | gnomAD v4 |
16 | g.20348863C>G | CA394985969 | UMOD | c.438G>C (p.Trp146Cys) c.537G>C (p.Trp179Cys) c.585G>C (p.Trp195Cys) c.522G>C (p.Trp174Cys) n.663G>C | |
16 | g.20348863C>T | CA394985971 | UMOD | c.438G>A (p.Trp146Ter) c.537G>A (p.Trp179Ter) c.585G>A (p.Trp195Ter) c.522G>A (p.Trp174Ter) n.663G>A | gnomAD v4 |
16 | g.20348864C>A | CA394985973 | UMOD | c.437G>T (p.Trp146Leu) c.536G>T (p.Trp179Leu) c.584G>T (p.Trp195Leu) c.521G>T (p.Trp174Leu) n.662G>T | |
16 | g.20348864C>G | CA394985975 | UMOD | c.437G>C (p.Trp146Ser) c.536G>C (p.Trp179Ser) c.584G>C (p.Trp195Ser) c.521G>C (p.Trp174Ser) n.662G>C | COSMIC COSMIC |
16 | g.20348864C>T | CA394985976 | UMOD | c.437G>A (p.Trp146Ter) c.536G>A (p.Trp179Ter) c.584G>A (p.Trp195Ter) c.521G>A (p.Trp174Ter) n.662G>A | |
16 | g.20348865A= | CA2211942908 | UMOD | c.436T= (p.Trp146=) c.535T= (p.Trp179=) c.583T= (p.Trp195=) c.520T= (p.Trp174=) n.661T= | |
16 | g.20348865A>C | CA394985977 | UMOD | c.436T>G (p.Trp146Gly) c.535T>G (p.Trp179Gly) c.583T>G (p.Trp195Gly) c.520T>G (p.Trp174Gly) n.661T>G | |
16 | g.20348865A>G | CA394985978 | UMOD | c.436T>C (p.Trp146Arg) c.535T>C (p.Trp179Arg) c.583T>C (p.Trp195Arg) c.520T>C (p.Trp174Arg) n.661T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348865A>T | CA394985979 | UMOD | c.436T>A (p.Trp146Arg) c.535T>A (p.Trp179Arg) c.583T>A (p.Trp195Arg) c.520T>A (p.Trp174Arg) n.661T>A | |
16 | g.20348866T>A | CA494097250 | UMOD | c.435A>T (p.Gly145=) c.534A>T (p.Gly178=) c.582A>T (p.Gly194=) c.519A>T (p.Gly173=) n.660A>T | |
16 | g.20348866T>C | CA494097248 | UMOD | c.435A>G (p.Gly145=) c.534A>G (p.Gly178=) c.582A>G (p.Gly194=) c.519A>G (p.Gly173=) n.660A>G | |
16 | g.20348866T>G | CA494097249 | UMOD | c.435A>C (p.Gly145=) c.534A>C (p.Gly178=) c.582A>C (p.Gly194=) c.519A>C (p.Gly173=) n.660A>C | |
16 | g.20348867C>A | CA394985983 | UMOD | c.434G>T (p.Gly145Val) c.533G>T (p.Gly178Val) c.581G>T (p.Gly194Val) c.518G>T (p.Gly173Val) n.659G>T | ClinVar |
16 | g.20348867C>G | CA394985982 | UMOD | c.434G>C (p.Gly145Ala) c.533G>C (p.Gly178Ala) c.581G>C (p.Gly194Ala) c.518G>C (p.Gly173Ala) n.659G>C | |
16 | g.20348867C>T | CA394985980 | UMOD | c.434G>A (p.Gly145Glu) c.533G>A (p.Gly178Glu) c.581G>A (p.Gly194Glu) c.518G>A (p.Gly173Glu) n.659G>A | gnomAD v4 |
16 | g.20348868C>A | CA394985985 | UMOD | c.433G>T (p.Gly145Ter) c.532G>T (p.Gly178Ter) c.580G>T (p.Gly194Ter) c.517G>T (p.Gly173Ter) n.658G>T | gnomAD v4 |
16 | g.20348868C>G | CA394985986 | UMOD | c.433G>C (p.Gly145Arg) c.532G>C (p.Gly178Arg) c.580G>C (p.Gly194Arg) c.517G>C (p.Gly173Arg) n.658G>C | |
16 | g.20348868C>T | CA394985987 | UMOD | c.433G>A (p.Gly145Arg) c.532G>A (p.Gly178Arg) c.580G>A (p.Gly194Arg) c.517G>A (p.Gly173Arg) n.658G>A | gnomAD v4 |
16 | g.20348869A= | CA2211942911 | UMOD | c.432T= (p.Asp144=) c.531T= (p.Asp177=) c.579T= (p.Asp193=) c.516T= (p.Asp172=) n.657T= | |
16 | g.20348869A>C | CA394985989 | UMOD | c.432T>G (p.Asp144Glu) c.531T>G (p.Asp177Glu) c.579T>G (p.Asp193Glu) c.516T>G (p.Asp172Glu) n.657T>G | |
16 | g.20348869A>G | CA494097256 | UMOD | c.432T>C (p.Asp144=) c.531T>C (p.Asp177=) c.579T>C (p.Asp193=) c.516T>C (p.Asp172=) n.657T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348869A>T | CA394985991 | UMOD | c.432T>A (p.Asp144Glu) c.531T>A (p.Asp177Glu) c.579T>A (p.Asp193Glu) c.516T>A (p.Asp172Glu) n.657T>A | |
16 | g.20348870T>A | CA394985992 | UMOD | c.431A>T (p.Asp144Val) c.530A>T (p.Asp177Val) c.578A>T (p.Asp193Val) c.515A>T (p.Asp172Val) n.656A>T | dbSNP |
16 | g.20348870T>C | CA394985994 | UMOD | c.431A>G (p.Asp144Gly) c.530A>G (p.Asp177Gly) c.578A>G (p.Asp193Gly) c.515A>G (p.Asp172Gly) n.656A>G | gnomAD v4 |
16 | g.20348870T>G | CA394985995 | UMOD | c.431A>C (p.Asp144Ala) c.530A>C (p.Asp177Ala) c.578A>C (p.Asp193Ala) c.515A>C (p.Asp172Ala) n.656A>C | |
16 | g.20348870T= | CA2211942913 | UMOD | c.431A= (p.Asp144=) c.530A= (p.Asp177=) c.578A= (p.Asp193=) c.515A= (p.Asp172=) n.656A= | |
16 | g.20348870_20348871delinsTC | CA2211942912 | UMOD | c.430_431delinsGA (p.Asp144=) c.529_530delinsGA (p.Asp177=) c.577_578delinsGA (p.Asp193=) c.514_515delinsGA (p.Asp172=) n.655_656delinsGA | |
16 | g.20348871C>A | CA394985997 | UMOD | c.430G>T (p.Asp144Tyr) c.529G>T (p.Asp177Tyr) c.577G>T (p.Asp193Tyr) c.514G>T (p.Asp172Tyr) n.655G>T | gnomAD v4 COSMIC COSMIC |
16 | g.20348871C= | CA2211942920 | UMOD | c.430G= (p.Asp144=) c.529G= (p.Asp177=) c.577G= (p.Asp193=) c.514G= (p.Asp172=) n.655G= | |
16 | g.20348871C>G | CA394985998 | UMOD | c.430G>C (p.Asp144His) c.529G>C (p.Asp177His) c.577G>C (p.Asp193His) c.514G>C (p.Asp172His) n.655G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348871C>T | CA7939448 | UMOD | c.430G>A (p.Asp144Asn) c.529G>A (p.Asp177Asn) c.577G>A (p.Asp193Asn) c.514G>A (p.Asp172Asn) n.655G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348876dup | CA621658533 | UMOD | c.430dup (p.Asp144GlyfsTer6) c.529dup (p.Asp177GlyfsTer6) c.577dup (p.Asp193GlyfsTer6) c.514dup (p.Asp172GlyfsTer6) n.655dup | gnomAD v2 gnomAD v4 |
16 | g.20348876del | CA7939447 | UMOD | c.430del (p.Asp144MetfsTer?) c.529del (p.Asp177MetfsTer?) c.577del (p.Asp193MetfsTer?) c.514del (p.Asp172MetfsTer?) n.655del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348872C>A | CA494097267 | UMOD | c.429G>T (p.Gly143=) c.528G>T (p.Gly176=) c.576G>T (p.Gly192=) c.513G>T (p.Gly171=) n.654G>T | gnomAD v4 |
16 | g.20348872C= | CA2211942932 | UMOD | c.429G= (p.Gly143=) c.528G= (p.Gly176=) c.576G= (p.Gly192=) c.513G= (p.Gly171=) n.654G= | |
16 | g.20348872C>G | CA494097268 | UMOD | c.429G>C (p.Gly143=) c.528G>C (p.Gly176=) c.576G>C (p.Gly192=) c.513G>C (p.Gly171=) n.654G>C | |
16 | g.20348872C>T | CA7939449 | UMOD | c.429G>A (p.Gly143=) c.528G>A (p.Gly176=) c.576G>A (p.Gly192=) c.513G>A (p.Gly171=) n.654G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348872_20348877delinsCCCCCG | CA2211942934 | UMOD | c.424_429delinsCGGGGG (p.Arg142=) c.523_528delinsCGGGGG (p.Arg175=) c.571_576delinsCGGGGG (p.Arg191=) c.508_513delinsCGGGGG (p.Arg170=) n.649_654delinsCGGGGG | |
16 | g.20348873C>A | CA394986004 | UMOD | c.428G>T (p.Gly143Val) c.527G>T (p.Gly176Val) c.575G>T (p.Gly192Val) c.512G>T (p.Gly171Val) n.653G>T | dbSNP gnomAD v4 |
16 | g.20348873C= | CA2211942935 | UMOD | c.428G= (p.Gly143=) c.527G= (p.Gly176=) c.575G= (p.Gly192=) c.512G= (p.Gly171=) n.653G= | |
16 | g.20348873C>G | CA394986003 | UMOD | c.428G>C (p.Gly143Ala) c.527G>C (p.Gly176Ala) c.575G>C (p.Gly192Ala) c.512G>C (p.Gly171Ala) n.653G>C | |
16 | g.20348873C>T | CA394986002 | UMOD | c.428G>A (p.Gly143Glu) c.527G>A (p.Gly176Glu) c.575G>A (p.Gly192Glu) c.512G>A (p.Gly171Glu) n.653G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348873_20348877del | CA919672136 | UMOD | c.424_428del (p.Arg142GlyfsTer6) c.523_527del (p.Arg175GlyfsTer6) c.571_575del (p.Arg191GlyfsTer6) c.508_512del (p.Arg170GlyfsTer6) n.649_653del | dbSNP |
16 | g.20348874C>A | CA394986006 | UMOD | c.427G>T (p.Gly143Trp) c.526G>T (p.Gly176Trp) c.574G>T (p.Gly192Trp) c.511G>T (p.Gly171Trp) n.652G>T | gnomAD v4 |
16 | g.20348874C>G | CA394986007 | UMOD | c.427G>C (p.Gly143Arg) c.526G>C (p.Gly176Arg) c.574G>C (p.Gly192Arg) c.511G>C (p.Gly171Arg) n.652G>C | |
16 | g.20348874C>T | CA394986009 | UMOD | c.427G>A (p.Gly143Arg) c.526G>A (p.Gly176Arg) c.574G>A (p.Gly192Arg) c.511G>A (p.Gly171Arg) n.652G>A | |
16 | g.20348875C>A | CA494097274 | UMOD | c.426G>T (p.Arg142=) c.525G>T (p.Arg175=) c.573G>T (p.Arg191=) c.510G>T (p.Arg170=) n.651G>T | gnomAD v4 |
16 | g.20348875C= | CA2211942940 | UMOD | c.426G= (p.Arg142=) c.525G= (p.Arg175=) c.573G= (p.Arg191=) c.510G= (p.Arg170=) n.651G= | |
16 | g.20348875C>G | CA494097275 | UMOD | c.426G>C (p.Arg142=) c.525G>C (p.Arg175=) c.573G>C (p.Arg191=) c.510G>C (p.Arg170=) n.651G>C | |
16 | g.20348875C>T | CA494097276 | UMOD | c.426G>A (p.Arg142=) c.525G>A (p.Arg175=) c.573G>A (p.Arg191=) c.510G>A (p.Arg170=) n.651G>A | dbSNP gnomAD v2 |
16 | g.20348876C>A | CA394986011 | UMOD | c.425G>T (p.Arg142Leu) c.524G>T (p.Arg175Leu) c.572G>T (p.Arg191Leu) c.509G>T (p.Arg170Leu) n.650G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348876C= | CA2211942966 | UMOD | c.425G= (p.Arg142=) c.524G= (p.Arg175=) c.572G= (p.Arg191=) c.509G= (p.Arg170=) n.650G= | |
16 | g.20348876C>G | CA394986012 | UMOD | c.425G>C (p.Arg142Pro) c.524G>C (p.Arg175Pro) c.572G>C (p.Arg191Pro) c.509G>C (p.Arg170Pro) n.650G>C | dbSNP gnomAD v2 |
16 | g.20348876C>T | CA7939450 | UMOD | c.425G>A (p.Arg142Gln) c.524G>A (p.Arg175Gln) c.572G>A (p.Arg191Gln) c.509G>A (p.Arg170Gln) n.650G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.20348877G>A | CA394986014 | UMOD | c.424C>T (p.Arg142Trp) c.523C>T (p.Arg175Trp) c.571C>T (p.Arg191Trp) c.508C>T (p.Arg170Trp) n.649C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348877G>C | CA394986015 | UMOD | c.424C>G (p.Arg142Gly) c.523C>G (p.Arg175Gly) c.571C>G (p.Arg191Gly) c.508C>G (p.Arg170Gly) n.649C>G | gnomAD v4 |
16 | g.20348877G= | CA2211942973 | UMOD | c.424C= (p.Arg142=) c.523C= (p.Arg175=) c.571C= (p.Arg191=) c.508C= (p.Arg170=) n.649C= | |
16 | g.20348877G>T | CA494097280 | UMOD | c.424C>A (p.Arg142=) c.523C>A (p.Arg175=) c.571C>A (p.Arg191=) c.508C>A (p.Arg170=) n.649C>A | gnomAD v4 |
16 | g.20348878dup | CA2632115511 | UMOD | c.424dup (p.Arg142ProfsTer8) c.523dup (p.Arg175ProfsTer8) c.571dup (p.Arg191ProfsTer8) c.508dup (p.Arg170ProfsTer8) n.649dup | gnomAD v4 |
16 | g.20348878G>A | CA7939451 | UMOD | c.423C>T (p.Tyr141=) c.522C>T (p.Tyr174=) c.570C>T (p.Tyr190=) c.507C>T (p.Tyr169=) n.648C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348878G>C | CA394986018 | UMOD | c.423C>G (p.Tyr141Ter) c.522C>G (p.Tyr174Ter) c.570C>G (p.Tyr190Ter) c.507C>G (p.Tyr169Ter) n.648C>G | gnomAD v4 |
16 | g.20348878G= | CA2211942976 | UMOD | c.423C= (p.Tyr141=) c.522C= (p.Tyr174=) c.570C= (p.Tyr190=) c.507C= (p.Tyr169=) n.648C= | |
16 | g.20348878G>T | CA394986019 | UMOD | c.423C>A (p.Tyr141Ter) c.522C>A (p.Tyr174Ter) c.570C>A (p.Tyr190Ter) c.507C>A (p.Tyr169Ter) n.648C>A | gnomAD v4 |
16 | g.20348879T>A | CA394986020 | UMOD | c.422A>T (p.Tyr141Phe) c.521A>T (p.Tyr174Phe) c.569A>T (p.Tyr190Phe) c.506A>T (p.Tyr169Phe) n.647A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348879T>C | CA394986021 | UMOD | c.422A>G (p.Tyr141Cys) c.521A>G (p.Tyr174Cys) c.569A>G (p.Tyr190Cys) c.506A>G (p.Tyr169Cys) n.647A>G | dbSNP |
16 | g.20348879T>G | CA394986023 | UMOD | c.422A>C (p.Tyr141Ser) c.521A>C (p.Tyr174Ser) c.569A>C (p.Tyr190Ser) c.506A>C (p.Tyr169Ser) n.647A>C | |
16 | g.20348879T= | CA2211942978 | UMOD | c.422A= (p.Tyr141=) c.521A= (p.Tyr174=) c.569A= (p.Tyr190=) c.506A= (p.Tyr169=) n.647A= | |
16 | g.20348880A= | CA2211942984 | UMOD | c.421T= (p.Tyr141=) c.520T= (p.Tyr174=) c.568T= (p.Tyr190=) c.505T= (p.Tyr169=) n.646T= | |
16 | g.20348880A>C | CA394986026 | UMOD | c.421T>G (p.Tyr141Asp) c.520T>G (p.Tyr174Asp) c.568T>G (p.Tyr190Asp) c.505T>G (p.Tyr169Asp) n.646T>G | |
16 | g.20348880A>G | CA7939452 | UMOD | c.421T>C (p.Tyr141His) c.520T>C (p.Tyr174His) c.568T>C (p.Tyr190His) c.505T>C (p.Tyr169His) n.646T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348880A>T | CA394986024 | UMOD | c.421T>A (p.Tyr141Asn) c.520T>A (p.Tyr174Asn) c.568T>A (p.Tyr190Asn) c.505T>A (p.Tyr169Asn) n.646T>A | |
16 | g.20348881G>A | CA494097290 | UMOD | c.420C>T (p.Gly140=) c.519C>T (p.Gly173=) c.567C>T (p.Gly189=) c.504C>T (p.Gly168=) n.645C>T | gnomAD v4 |
16 | g.20348881G>C | CA494097295 | UMOD | c.420C>G (p.Gly140=) c.519C>G (p.Gly173=) c.567C>G (p.Gly189=) c.504C>G (p.Gly168=) n.645C>G | gnomAD v4 |
16 | g.20348881G>T | CA494097296 | UMOD | c.420C>A (p.Gly140=) c.519C>A (p.Gly173=) c.567C>A (p.Gly189=) c.504C>A (p.Gly168=) n.645C>A | gnomAD v4 COSMIC |
16 | g.20348882C>A | CA394986028 | UMOD | c.419G>T (p.Gly140Val) c.518G>T (p.Gly173Val) c.566G>T (p.Gly189Val) c.503G>T (p.Gly168Val) n.644G>T | gnomAD v4 |
16 | g.20348882C>G | CA394986029 | UMOD | c.419G>C (p.Gly140Ala) c.518G>C (p.Gly173Ala) c.566G>C (p.Gly189Ala) c.503G>C (p.Gly168Ala) n.644G>C | |
16 | g.20348882C>T | CA394986031 | UMOD | c.419G>A (p.Gly140Asp) c.518G>A (p.Gly173Asp) c.566G>A (p.Gly189Asp) c.503G>A (p.Gly168Asp) n.644G>A | gnomAD v4 |
16 | g.20348883C>A | CA394986033 | UMOD | c.418G>T (p.Gly140Cys) c.517G>T (p.Gly173Cys) c.565G>T (p.Gly189Cys) c.502G>T (p.Gly168Cys) n.643G>T | gnomAD v4 |
16 | g.20348883C= | CA2211942989 | UMOD | c.418G= (p.Gly140=) c.517G= (p.Gly173=) c.565G= (p.Gly189=) c.502G= (p.Gly168=) n.643G= | |
16 | g.20348883C>G | CA394986035 | UMOD | c.418G>C (p.Gly140Arg) c.517G>C (p.Gly173Arg) c.565G>C (p.Gly189Arg) c.502G>C (p.Gly168Arg) n.643G>C | |
16 | g.20348883C>T | CA394986036 | UMOD | c.418G>A (p.Gly140Ser) c.517G>A (p.Gly173Ser) c.565G>A (p.Gly189Ser) c.502G>A (p.Gly168Ser) n.643G>A | dbSNP |
16 | g.20348884C>A | CA494097302 | UMOD | c.417G>T (p.Ala139=) c.516G>T (p.Ala172=) c.564G>T (p.Ala188=) c.501G>T (p.Ala167=) n.642G>T | gnomAD v4 |
16 | g.20348884C>G | CA494097303 | UMOD | c.417G>C (p.Ala139=) c.516G>C (p.Ala172=) c.564G>C (p.Ala188=) c.501G>C (p.Ala167=) n.642G>C | gnomAD v4 |
16 | g.20348884C>T | CA494097304 | UMOD | c.417G>A (p.Ala139=) c.516G>A (p.Ala172=) c.564G>A (p.Ala188=) c.501G>A (p.Ala167=) n.642G>A | gnomAD v4 |
16 | g.20348885G>A | CA7939453 | UMOD | c.416C>T (p.Ala139Val) c.515C>T (p.Ala172Val) c.563C>T (p.Ala188Val) c.500C>T (p.Ala167Val) n.641C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348885G>C | CA394986038 | UMOD | c.416C>G (p.Ala139Gly) c.515C>G (p.Ala172Gly) c.563C>G (p.Ala188Gly) c.500C>G (p.Ala167Gly) n.641C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348885G= | CA2211942999 | UMOD | c.416C= (p.Ala139=) c.515C= (p.Ala172=) c.563C= (p.Ala188=) c.500C= (p.Ala167=) n.641C= | |
16 | g.20348885G>T | CA279300041 | UMOD | c.416C>A (p.Ala139Glu) c.515C>A (p.Ala172Glu) c.563C>A (p.Ala188Glu) c.500C>A (p.Ala167Glu) n.641C>A | dbSNP gnomAD v4 |
16 | g.20348886C>A | CA394986040 | UMOD | c.415G>T (p.Ala139Ser) c.514G>T (p.Ala172Ser) c.562G>T (p.Ala188Ser) c.484G>T c.499G>T (p.Ala167Ser) n.640G>T | gnomAD v4 |
16 | g.20348886C= | CA2211943002 | UMOD | c.415G= (p.Ala139=) c.514G= (p.Ala172=) c.562G= (p.Ala188=) c.484G= c.499G= (p.Ala167=) n.640G= | |
16 | g.20348886C>G | CA394986041 | UMOD | c.415G>C (p.Ala139Pro) c.514G>C (p.Ala172Pro) c.562G>C (p.Ala188Pro) c.484G>C c.499G>C (p.Ala167Pro) n.640G>C | |
16 | g.20348886C>T | CA394986043 | UMOD | c.415G>A (p.Ala139Thr) c.514G>A (p.Ala172Thr) c.562G>A (p.Ala188Thr) c.484G>A c.499G>A (p.Ala167Thr) n.640G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348887G>A | CA494097308 | UMOD | c.414C>T (p.Pro138=) c.513C>T (p.Pro171=) c.561C>T (p.Pro187=) c.483C>T (p.Pro161=) c.498C>T (p.Pro166=) n.639C>T | gnomAD v4 |
16 | g.20348887G>C | CA494097311 | UMOD | c.414C>G (p.Pro138=) c.513C>G (p.Pro171=) c.561C>G (p.Pro187=) c.483C>G (p.Pro161=) c.498C>G (p.Pro166=) n.639C>G | gnomAD v4 |
16 | g.20348887G>T | CA494097310 | UMOD | c.414C>A (p.Pro138=) c.513C>A (p.Pro171=) c.561C>A (p.Pro187=) c.483C>A (p.Pro161=) c.498C>A (p.Pro166=) n.639C>A | gnomAD v4 |
16 | g.20348890del | CA2632115512 | UMOD | c.414del (p.Ala139ArgfsTer?) c.513del (p.Ala172ArgfsTer?) c.561del (p.Ala188ArgfsTer?) c.483del (p.Pro161=) c.498del (p.Ala167ArgfsTer?) n.639del | gnomAD v4 |
16 | g.20348888G>A | CA394986049 | UMOD | c.413C>T (p.Pro138Leu) c.512C>T (p.Pro171Leu) c.560C>T (p.Pro187Leu) c.482C>T (p.Pro161Leu) c.497C>T (p.Pro166Leu) n.638C>T | gnomAD v4 |
16 | g.20348888G>C | CA394986046 | UMOD | c.413C>G (p.Pro138Arg) c.512C>G (p.Pro171Arg) c.560C>G (p.Pro187Arg) c.482C>G (p.Pro161Arg) c.497C>G (p.Pro166Arg) n.638C>G | |
16 | g.20348888G>T | CA394986047 | UMOD | c.413C>A (p.Pro138His) c.512C>A (p.Pro171His) c.560C>A (p.Pro187His) c.482C>A (p.Pro161His) c.497C>A (p.Pro166His) n.638C>A | gnomAD v4 |
16 | g.20348889G>A | CA394986050 | UMOD | c.412C>T (p.Pro138Ser) c.511C>T (p.Pro171Ser) c.559C>T (p.Pro187Ser) c.481C>T (p.Pro161Ser) c.496C>T (p.Pro166Ser) n.637C>T | dbSNP gnomAD v4 |
16 | g.20348889G>C | CA394986051 | UMOD | c.412C>G (p.Pro138Ala) c.511C>G (p.Pro171Ala) c.559C>G (p.Pro187Ala) c.481C>G (p.Pro161Ala) c.496C>G (p.Pro166Ala) n.637C>G | |
16 | g.20348889G= | CA2211943022 | UMOD | c.412C= (p.Pro138=) c.511C= (p.Pro171=) c.559C= (p.Pro187=) c.481C= (p.Pro161=) c.496C= (p.Pro166=) n.637C= | |
16 | g.20348889G>T | CA394986055 | UMOD | c.412C>A (p.Pro138Thr) c.511C>A (p.Pro171Thr) c.559C>A (p.Pro187Thr) c.481C>A (p.Pro161Thr) c.496C>A (p.Pro166Thr) n.637C>A | gnomAD v4 |
16 | g.20348890G>A | CA494097315 | UMOD | c.411C>T (p.Cys137=) c.510C>T (p.Cys170=) c.558C>T (p.Cys186=) c.480C>T (p.Cys160=) c.495C>T (p.Cys165=) n.636C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348890G>C | CA394986056 | UMOD | c.411C>G (p.Cys137Trp) c.510C>G (p.Cys170Trp) c.558C>G (p.Cys186Trp) c.480C>G (p.Cys160Trp) c.495C>G (p.Cys165Trp) n.636C>G | ClinVar dbSNP |
16 | g.20348890G= | CA2211943033 | UMOD | c.411C= (p.Cys137=) c.510C= (p.Cys170=) c.558C= (p.Cys186=) c.480C= (p.Cys160=) c.495C= (p.Cys165=) n.636C= | |
16 | g.20348890G>T | CA394986058 | UMOD | c.411C>A (p.Cys137Ter) c.510C>A (p.Cys170Ter) c.558C>A (p.Cys186Ter) c.480C>A (p.Cys160Ter) c.495C>A (p.Cys165Ter) n.636C>A | gnomAD v4 |
16 | g.20348891C>A | CA394986060 | UMOD | c.410G>T (p.Cys137Phe) c.509G>T (p.Cys170Phe) c.557G>T (p.Cys186Phe) c.479G>T (p.Cys160Phe) c.494G>T (p.Cys165Phe) n.635G>T | gnomAD v4 |
16 | g.20348891C>G | CA394986061 | UMOD | c.410G>C (p.Cys137Ser) c.509G>C (p.Cys170Ser) c.557G>C (p.Cys186Ser) c.479G>C (p.Cys160Ser) c.494G>C (p.Cys165Ser) n.635G>C | |
16 | g.20348891C>T | CA394986062 | UMOD | c.410G>A (p.Cys137Tyr) c.509G>A (p.Cys170Tyr) c.557G>A (p.Cys186Tyr) c.479G>A (p.Cys160Tyr) c.494G>A (p.Cys165Tyr) n.635G>A | gnomAD v4 |
16 | g.20348891dup | CA2632115513 | UMOD | c.410dup (p.Cys137TrpfsTer13) c.509dup (p.Cys170TrpfsTer13) c.557dup (p.Cys186TrpfsTer13) c.479dup (p.Cys160TrpfsTer?) c.494dup (p.Cys165TrpfsTer13) n.635dup | gnomAD v4 |
16 | g.20348892_20348895dup | CA718921480 | UMOD | c.407_410dup (p.Pro138MetfsTer13) c.506_509dup (p.Pro171MetfsTer13) c.554_557dup (p.Pro187MetfsTer13) c.476_479dup (p.Pro161MetfsTer?) c.491_494dup (p.Pro166MetfsTer13) n.632_635dup | dbSNP |
16 | g.20348892A>C | CA394986065 | UMOD | c.409T>G (p.Cys137Gly) c.508T>G (p.Cys170Gly) c.556T>G (p.Cys186Gly) c.478T>G (p.Cys160Gly) c.493T>G (p.Cys165Gly) n.634T>G | |
16 | g.20348892A>G | CA394986066 | UMOD | c.409T>C (p.Cys137Arg) c.508T>C (p.Cys170Arg) c.556T>C (p.Cys186Arg) c.478T>C (p.Cys160Arg) c.493T>C (p.Cys165Arg) n.634T>C | |
16 | g.20348892A>T | CA394986068 | UMOD | c.409T>A (p.Cys137Ser) c.508T>A (p.Cys170Ser) c.556T>A (p.Cys186Ser) c.478T>A (p.Cys160Ser) c.493T>A (p.Cys165Ser) n.634T>A | |
16 | g.20348893T>A | CA494097320 | UMOD | c.408A>T (p.Val136=) c.507A>T (p.Val169=) c.555A>T (p.Val185=) c.477A>T (p.Val159=) c.492A>T (p.Val164=) n.633A>T | |
16 | g.20348893T>C | CA494097321 | UMOD | c.408A>G (p.Val136=) c.507A>G (p.Val169=) c.555A>G (p.Val185=) c.477A>G (p.Val159=) c.492A>G (p.Val164=) n.633A>G | |
16 | g.20348893T>G | CA494097322 | UMOD | c.408A>C (p.Val136=) c.507A>C (p.Val169=) c.555A>C (p.Val185=) c.477A>C (p.Val159=) c.492A>C (p.Val164=) n.633A>C | |
16 | g.20348894A>C | CA394986073 | UMOD | c.407T>G (p.Val136Gly) c.506T>G (p.Val169Gly) c.554T>G (p.Val185Gly) c.476T>G (p.Val159Gly) c.491T>G (p.Val164Gly) n.632T>G | |
16 | g.20348894A>G | CA394986071 | UMOD | c.407T>C (p.Val136Ala) c.506T>C (p.Val169Ala) c.554T>C (p.Val185Ala) c.476T>C (p.Val159Ala) c.491T>C (p.Val164Ala) n.632T>C | |
16 | g.20348894A>T | CA394986069 | UMOD | c.407T>A (p.Val136Glu) c.506T>A (p.Val169Glu) c.554T>A (p.Val185Glu) c.476T>A (p.Val159Glu) c.491T>A (p.Val164Glu) n.632T>A | |
16 | g.20348895C>A | CA394986075 | UMOD | c.406G>T (p.Val136Leu) c.505G>T (p.Val169Leu) c.553G>T (p.Val185Leu) c.475G>T (p.Val159Leu) c.490G>T (p.Val164Leu) n.631G>T | gnomAD v4 |
16 | g.20348895C= | CA2211943040 | UMOD | c.406G= (p.Val136=) c.505G= (p.Val169=) c.553G= (p.Val185=) c.475G= (p.Val159=) c.490G= (p.Val164=) n.631G= | |
16 | g.20348895C>G | CA394986077 | UMOD | c.406G>C (p.Val136Leu) c.505G>C (p.Val169Leu) c.553G>C (p.Val185Leu) c.475G>C (p.Val159Leu) c.490G>C (p.Val164Leu) n.631G>C | gnomAD v4 |
16 | g.20348895C>T | CA394986076 | UMOD | c.406G>A (p.Val136Ile) c.505G>A (p.Val169Ile) c.553G>A (p.Val185Ile) c.475G>A (p.Val159Ile) c.490G>A (p.Val164Ile) n.631G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348896G>A | CA494097331 | UMOD | c.405C>T (p.Cys135=) c.504C>T (p.Cys168=) c.552C>T (p.Cys184=) c.474C>T (p.Cys158=) c.489C>T (p.Cys163=) n.630C>T | gnomAD v4 COSMIC COSMIC |
16 | g.20348896G>C | CA394986079 | UMOD | c.405C>G (p.Cys135Trp) c.504C>G (p.Cys168Trp) c.552C>G (p.Cys184Trp) c.474C>G (p.Cys158Trp) c.489C>G (p.Cys163Trp) n.630C>G | |
16 | g.20348896G>T | CA394986080 | UMOD | c.405C>A (p.Cys135Ter) c.504C>A (p.Cys168Ter) c.552C>A (p.Cys184Ter) c.474C>A (p.Cys158Ter) c.489C>A (p.Cys163Ter) n.630C>A | gnomAD v4 |
16 | g.20348898_20348906del | CA2695222876 | UMOD | c.397_405del (p.Tyr133_Cys135del) c.496_504del (p.Tyr166_Cys168del) c.544_552del (p.Tyr182_Cys184del) c.466_474del (p.Tyr156_Cys158del) c.481_489del (p.Tyr161_Cys163del) n.622_630del | |
16 | g.20348897C>A | CA394986081 | UMOD | c.404G>T (p.Cys135Phe) c.503G>T (p.Cys168Phe) c.551G>T (p.Cys184Phe) c.473G>T (p.Cys158Phe) c.488G>T (p.Cys163Phe) n.629G>T | |
16 | g.20348897C>G | CA394986084 | UMOD | c.404G>C (p.Cys135Ser) c.503G>C (p.Cys168Ser) c.551G>C (p.Cys184Ser) c.473G>C (p.Cys158Ser) c.488G>C (p.Cys163Ser) n.629G>C | |
16 | g.20348897C>T | CA394986083 | UMOD | c.404G>A (p.Cys135Tyr) c.503G>A (p.Cys168Tyr) c.551G>A (p.Cys184Tyr) c.473G>A (p.Cys158Tyr) c.488G>A (p.Cys163Tyr) n.629G>A | gnomAD v4 |
16 | g.20348898A>C | CA394986086 | UMOD | c.403T>G (p.Cys135Gly) c.502T>G (p.Cys168Gly) c.550T>G (p.Cys184Gly) c.472T>G (p.Cys158Gly) c.487T>G (p.Cys163Gly) n.628T>G | |
16 | g.20348898A>G | CA394986087 | UMOD | c.403T>C (p.Cys135Arg) c.502T>C (p.Cys168Arg) c.550T>C (p.Cys184Arg) c.472T>C (p.Cys158Arg) c.487T>C (p.Cys163Arg) n.628T>C | gnomAD v4 |
16 | g.20348898A>T | CA394986088 | UMOD | c.403T>A (p.Cys135Ser) c.502T>A (p.Cys168Ser) c.550T>A (p.Cys184Ser) c.472T>A (p.Cys158Ser) c.487T>A (p.Cys163Ser) n.628T>A | gnomAD v4 |
16 | g.20348899C>A | CA394986090 | UMOD | c.402G>T (p.Leu134Phe) c.501G>T (p.Leu167Phe) c.549G>T (p.Leu183Phe) c.471G>T (p.Leu157Phe) c.486G>T (p.Leu162Phe) n.627G>T | gnomAD v4 |
16 | g.20348899C>G | CA394986092 | UMOD | c.402G>C (p.Leu134Phe) c.501G>C (p.Leu167Phe) c.549G>C (p.Leu183Phe) c.471G>C (p.Leu157Phe) c.486G>C (p.Leu162Phe) n.627G>C | |
16 | g.20348899C>T | CA494097341 | UMOD | c.402G>A (p.Leu134=) c.501G>A (p.Leu167=) c.549G>A (p.Leu183=) c.471G>A (p.Leu157=) c.486G>A (p.Leu162=) n.627G>A | |
16 | g.20348900A>C | CA394986094 | UMOD | c.401T>G (p.Leu134Trp) c.500T>G (p.Leu167Trp) c.548T>G (p.Leu183Trp) c.470T>G (p.Leu157Trp) c.485T>G (p.Leu162Trp) n.626T>G | ClinVar gnomAD v4 |
16 | g.20348900A>G | CA394986095 | UMOD | c.401T>C (p.Leu134Ser) c.500T>C (p.Leu167Ser) c.548T>C (p.Leu183Ser) c.470T>C (p.Leu157Ser) c.485T>C (p.Leu162Ser) n.626T>C | |
16 | g.20348900A>T | CA394986096 | UMOD | c.401T>A (p.Leu134Ter) c.500T>A (p.Leu167Ter) c.548T>A (p.Leu183Ter) c.470T>A (p.Leu157Ter) c.485T>A (p.Leu162Ter) n.626T>A | gnomAD v4 |
16 | g.20348901A>C | CA394986098 | UMOD | c.400T>G (p.Leu134Val) c.499T>G (p.Leu167Val) c.547T>G (p.Leu183Val) c.469T>G (p.Leu157Val) c.484T>G (p.Leu162Val) n.625T>G | |
16 | g.20348901A>G | CA494097348 | UMOD | c.400T>C (p.Leu134=) c.499T>C (p.Leu167=) c.547T>C (p.Leu183=) c.469T>C (p.Leu157=) c.484T>C (p.Leu162=) n.625T>C | |
16 | g.20348901A>T | CA394986099 | UMOD | c.400T>A (p.Leu134Met) c.499T>A (p.Leu167Met) c.547T>A (p.Leu183Met) c.469T>A (p.Leu157Met) c.484T>A (p.Leu162Met) n.625T>A | gnomAD v4 |
16 | g.20348901_20348902delinsAG | CA2211943043 | UMOD | c.399_400delinsCT (p.Tyr133=) c.498_499delinsCT (p.Tyr166=) c.546_547delinsCT (p.Tyr182=) c.468_469delinsCT (p.Tyr156=) c.483_484delinsCT (p.Tyr161=) n.624_625delinsCT | |
16 | g.20348902del | CA2211943044 | UMOD | c.399del (p.Leu134CysfsTer?) c.498del (p.Leu167CysfsTer?) c.546del (p.Leu183CysfsTer?) c.468del (p.Leu157CysfsTer?) c.483del (p.Leu162CysfsTer?) n.624del | dbSNP gnomAD v4 |
16 | g.20348902G>A | CA494097350 | UMOD | c.399C>T (p.Tyr133=) c.498C>T (p.Tyr166=) c.546C>T (p.Tyr182=) c.468C>T (p.Tyr156=) c.483C>T (p.Tyr161=) n.624C>T | dbSNP |
16 | g.20348902G>C | CA394986101 | UMOD | c.399C>G (p.Tyr133Ter) c.498C>G (p.Tyr166Ter) c.546C>G (p.Tyr182Ter) c.468C>G (p.Tyr156Ter) c.483C>G (p.Tyr161Ter) n.624C>G | |
16 | g.20348902G= | CA2211943047 | UMOD | c.399C= (p.Tyr133=) c.498C= (p.Tyr166=) c.546C= (p.Tyr182=) c.468C= (p.Tyr156=) c.483C= (p.Tyr161=) n.624C= | |
16 | g.20348902G>T | CA394986102 | UMOD | c.399C>A (p.Tyr133Ter) c.498C>A (p.Tyr166Ter) c.546C>A (p.Tyr182Ter) c.468C>A (p.Tyr156Ter) c.483C>A (p.Tyr161Ter) n.624C>A | |
16 | g.20348903T>A | CA394986104 | UMOD | c.398A>T (p.Tyr133Phe) c.497A>T (p.Tyr166Phe) c.545A>T (p.Tyr182Phe) c.467A>T (p.Tyr156Phe) c.482A>T (p.Tyr161Phe) n.623A>T | gnomAD v4 |
16 | g.20348903T>C | CA279300046 | UMOD | c.398A>G (p.Tyr133Cys) c.497A>G (p.Tyr166Cys) c.545A>G (p.Tyr182Cys) c.467A>G (p.Tyr156Cys) c.482A>G (p.Tyr161Cys) n.623A>G | dbSNP gnomAD v4 |
16 | g.20348903T>G | CA394986105 | UMOD | c.398A>C (p.Tyr133Ser) c.497A>C (p.Tyr166Ser) c.545A>C (p.Tyr182Ser) c.467A>C (p.Tyr156Ser) c.482A>C (p.Tyr161Ser) n.623A>C | |
16 | g.20348903T= | CA2211943056 | UMOD | c.398A= (p.Tyr133=) c.497A= (p.Tyr166=) c.545A= (p.Tyr182=) c.467A= (p.Tyr156=) c.482A= (p.Tyr161=) n.623A= | |
16 | g.20348904A>C | CA394986108 | UMOD | c.397T>G (p.Tyr133Asp) c.496T>G (p.Tyr166Asp) c.544T>G (p.Tyr182Asp) c.466T>G (p.Tyr156Asp) c.481T>G (p.Tyr161Asp) n.622T>G | |
16 | g.20348904A>G | CA394986109 | UMOD | c.397T>C (p.Tyr133His) c.496T>C (p.Tyr166His) c.544T>C (p.Tyr182His) c.466T>C (p.Tyr156His) c.481T>C (p.Tyr161His) n.622T>C | gnomAD v4 |
16 | g.20348904A>T | CA394986113 | UMOD | c.397T>A (p.Tyr133Asn) c.496T>A (p.Tyr166Asn) c.544T>A (p.Tyr182Asn) c.466T>A (p.Tyr156Asn) c.481T>A (p.Tyr161Asn) n.622T>A | |
16 | g.20348905G>A | CA279300048 | UMOD | c.396C>T (p.Ser132=) c.495C>T (p.Ser165=) c.543C>T (p.Ser181=) c.465C>T (p.Ser155=) c.480C>T (p.Ser160=) n.621C>T | dbSNP gnomAD v4 |
16 | g.20348905G>C | CA394986116 | UMOD | c.396C>G (p.Ser132Arg) c.495C>G (p.Ser165Arg) c.543C>G (p.Ser181Arg) c.465C>G (p.Ser155Arg) c.480C>G (p.Ser160Arg) n.621C>G | |
16 | g.20348905G= | CA2211943061 | UMOD | c.396C= (p.Ser132=) c.495C= (p.Ser165=) c.543C= (p.Ser181=) c.465C= (p.Ser155=) c.480C= (p.Ser160=) n.621C= | |
16 | g.20348905G>T | CA394986117 | UMOD | c.396C>A (p.Ser132Arg) c.495C>A (p.Ser165Arg) c.543C>A (p.Ser181Arg) c.465C>A (p.Ser155Arg) c.480C>A (p.Ser160Arg) n.621C>A | gnomAD v4 |
16 | g.20348906C>A | CA394986119 | UMOD | c.395G>T (p.Ser132Ile) c.494G>T (p.Ser165Ile) c.542G>T (p.Ser181Ile) c.464G>T (p.Ser155Ile) c.479G>T (p.Ser160Ile) n.620G>T | gnomAD v4 |
16 | g.20348906C= | CA2211943062 | UMOD | c.395G= (p.Ser132=) c.494G= (p.Ser165=) c.542G= (p.Ser181=) c.464G= (p.Ser155=) c.479G= (p.Ser160=) n.620G= | |
16 | g.20348906C>G | CA394986121 | UMOD | c.395G>C (p.Ser132Thr) c.494G>C (p.Ser165Thr) c.542G>C (p.Ser181Thr) c.464G>C (p.Ser155Thr) c.479G>C (p.Ser160Thr) n.620G>C | |
16 | g.20348906C>T | CA394986123 | UMOD | c.395G>A (p.Ser132Asn) c.494G>A (p.Ser165Asn) c.542G>A (p.Ser181Asn) c.464G>A (p.Ser155Asn) c.479G>A (p.Ser160Asn) n.620G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348907T>A | CA394986127 | UMOD | c.394A>T (p.Ser132Cys) c.493A>T (p.Ser165Cys) c.541A>T (p.Ser181Cys) c.463A>T (p.Ser155Cys) c.478A>T (p.Ser160Cys) n.619A>T | |
16 | g.20348907T>C | CA394986126 | UMOD | c.394A>G (p.Ser132Gly) c.493A>G (p.Ser165Gly) c.541A>G (p.Ser181Gly) c.463A>G (p.Ser155Gly) c.478A>G (p.Ser160Gly) n.619A>G | gnomAD v4 |
16 | g.20348907T>G | CA394986124 | UMOD | c.394A>C (p.Ser132Arg) c.493A>C (p.Ser165Arg) c.541A>C (p.Ser181Arg) c.463A>C (p.Ser155Arg) c.478A>C (p.Ser160Arg) n.619A>C | |
16 | g.20348908G>A | CA279300052 | UMOD | c.393C>T (p.Gly131=) c.492C>T (p.Gly164=) c.540C>T (p.Gly180=) c.462C>T (p.Gly154=) c.477C>T (p.Gly159=) n.618C>T | dbSNP gnomAD v4 |
16 | g.20348908G>C | CA494097374 | UMOD | c.393C>G (p.Gly131=) c.492C>G (p.Gly164=) c.540C>G (p.Gly180=) c.462C>G (p.Gly154=) c.477C>G (p.Gly159=) n.618C>G | |
16 | g.20348908G= | CA2211943065 | UMOD | c.393C= (p.Gly131=) c.492C= (p.Gly164=) c.540C= (p.Gly180=) c.462C= (p.Gly154=) c.477C= (p.Gly159=) n.618C= | |
16 | g.20348908G>T | CA494097368 | UMOD | c.393C>A (p.Gly131=) c.492C>A (p.Gly164=) c.540C>A (p.Gly180=) c.462C>A (p.Gly154=) c.477C>A (p.Gly159=) n.618C>A | gnomAD v4 |
16 | g.20348909C>A | CA394986130 | UMOD | c.392G>T (p.Gly131Val) c.491G>T (p.Gly164Val) c.539G>T (p.Gly180Val) c.461G>T (p.Gly154Val) c.476G>T (p.Gly159Val) n.617G>T | gnomAD v4 |
16 | g.20348909C= | CA2211943070 | UMOD | c.392G= (p.Gly131=) c.491G= (p.Gly164=) c.539G= (p.Gly180=) c.461G= (p.Gly154=) c.476G= (p.Gly159=) n.617G= | |
16 | g.20348909C>G | CA394986131 | UMOD | c.392G>C (p.Gly131Ala) c.491G>C (p.Gly164Ala) c.539G>C (p.Gly180Ala) c.461G>C (p.Gly154Ala) c.476G>C (p.Gly159Ala) n.617G>C | |
16 | g.20348909C>T | CA7939454 | UMOD | c.392G>A (p.Gly131Asp) c.491G>A (p.Gly164Asp) c.539G>A (p.Gly180Asp) c.461G>A (p.Gly154Asp) c.476G>A (p.Gly159Asp) n.617G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348910C>A | CA394986133 | UMOD | c.391G>T (p.Gly131Cys) c.490G>T (p.Gly164Cys) c.538G>T (p.Gly180Cys) c.460G>T (p.Gly154Cys) c.475G>T (p.Gly159Cys) n.616G>T | gnomAD v4 |
16 | g.20348910C>G | CA394986134 | UMOD | c.391G>C (p.Gly131Arg) c.490G>C (p.Gly164Arg) c.538G>C (p.Gly180Arg) c.460G>C (p.Gly154Arg) c.475G>C (p.Gly159Arg) n.616G>C | gnomAD v4 |
16 | g.20348910C>T | CA394986136 | UMOD | c.391G>A (p.Gly131Ser) c.490G>A (p.Gly164Ser) c.538G>A (p.Gly180Ser) c.460G>A (p.Gly154Ser) c.475G>A (p.Gly159Ser) n.616G>A | gnomAD v4 |
16 | g.20348911C>A | CA494097382 | UMOD | c.390G>T (p.Val130=) c.489G>T (p.Val163=) c.537G>T (p.Val179=) c.459G>T (p.Val153=) c.474G>T (p.Val158=) n.615G>T | gnomAD v4 |
16 | g.20348911C>G | CA494097383 | UMOD | c.390G>C (p.Val130=) c.489G>C (p.Val163=) c.537G>C (p.Val179=) c.459G>C (p.Val153=) c.474G>C (p.Val158=) n.615G>C | |
16 | g.20348911C>T | CA494097384 | UMOD | c.390G>A (p.Val130=) c.489G>A (p.Val163=) c.537G>A (p.Val179=) c.459G>A (p.Val153=) c.474G>A (p.Val158=) n.615G>A | gnomAD v4 |
16 | g.20348911_20348912insTC | CA2550400247 | UMOD | c.390_391insAG (p.Gly131ArgfsTer?) c.489_490insAG (p.Gly164ArgfsTer?) c.537_538insAG (p.Gly180ArgfsTer?) c.459_460insAG (p.Gly154ArgfsTer?) c.474_475insAG (p.Gly159ArgfsTer?) n.615_616insAG | |
16 | g.20348912A= | CA2211943076 | UMOD | c.389T= (p.Val130=) c.488T= (p.Val163=) c.536T= (p.Val179=) c.458T= (p.Val153=) c.473T= (p.Val158=) n.614T= | |
16 | g.20348912A>C | CA394986139 | UMOD | c.389T>G (p.Val130Gly) c.488T>G (p.Val163Gly) c.536T>G (p.Val179Gly) c.458T>G (p.Val153Gly) c.473T>G (p.Val158Gly) n.614T>G | |
16 | g.20348912A>G | CA7939455 | UMOD | c.389T>C (p.Val130Ala) c.488T>C (p.Val163Ala) c.536T>C (p.Val179Ala) c.458T>C (p.Val153Ala) c.473T>C (p.Val158Ala) n.614T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348912A>T | CA394986141 | UMOD | c.389T>A (p.Val130Glu) c.488T>A (p.Val163Glu) c.536T>A (p.Val179Glu) c.458T>A (p.Val153Glu) c.473T>A (p.Val158Glu) n.614T>A | |
16 | g.20348913C>A | CA394986143 | UMOD | c.388G>T (p.Val130Leu) c.487G>T (p.Val163Leu) c.535G>T (p.Val179Leu) c.457G>T (p.Val153Leu) c.472G>T (p.Val158Leu) n.613G>T | gnomAD v4 |
16 | g.20348913C>G | CA394986144 | UMOD | c.388G>C (p.Val130Leu) c.487G>C (p.Val163Leu) c.535G>C (p.Val179Leu) c.457G>C (p.Val153Leu) c.472G>C (p.Val158Leu) n.613G>C | |
16 | g.20348913C>T | CA394986145 | UMOD | c.388G>A (p.Val130Met) c.487G>A (p.Val163Met) c.535G>A (p.Val179Met) c.457G>A (p.Val153Met) c.472G>A (p.Val158Met) n.613G>A | gnomAD v4 |
16 | g.20348914C>A | CA494097391 | UMOD | c.387G>T (p.Val129=) c.486G>T (p.Val162=) c.534G>T (p.Val178=) c.456G>T (p.Val152=) c.471G>T (p.Val157=) n.612G>T | gnomAD v4 |
16 | g.20348914C= | CA2211943091 | UMOD | c.387G= (p.Val129=) c.486G= (p.Val162=) c.534G= (p.Val178=) c.456G= (p.Val152=) c.471G= (p.Val157=) n.612G= | |
16 | g.20348914C>G | CA494097393 | UMOD | c.387G>C (p.Val129=) c.486G>C (p.Val162=) c.534G>C (p.Val178=) c.456G>C (p.Val152=) c.471G>C (p.Val157=) n.612G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348914C>T | CA494097394 | UMOD | c.387G>A (p.Val129=) c.486G>A (p.Val162=) c.534G>A (p.Val178=) c.456G>A (p.Val152=) c.471G>A (p.Val157=) n.612G>A | gnomAD v4 |
16 | g.20348916_20348917del | CA2565369314 | UMOD | c.386_387del (p.Val129GlyfsTer20) c.485_486del (p.Val162GlyfsTer20) c.533_534del (p.Val178GlyfsTer20) c.455_456del (p.Val152GlyfsTer?) c.470_471del (p.Val157GlyfsTer20) n.611_612del | |
16 | g.20348915A= | CA2211943094 | UMOD | c.386T= (p.Val129=) c.485T= (p.Val162=) c.533T= (p.Val178=) c.455T= (p.Val152=) c.470T= (p.Val157=) n.611T= | |
16 | g.20348915A>C | CA394986147 | UMOD | c.386T>G (p.Val129Gly) c.485T>G (p.Val162Gly) c.533T>G (p.Val178Gly) c.455T>G (p.Val152Gly) c.470T>G (p.Val157Gly) n.611T>G | |
16 | g.20348915A>G | CA394986151 | UMOD | c.386T>C (p.Val129Ala) c.485T>C (p.Val162Ala) c.533T>C (p.Val178Ala) c.455T>C (p.Val152Ala) c.470T>C (p.Val157Ala) n.611T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348915A>T | CA394986149 | UMOD | c.386T>A (p.Val129Glu) c.485T>A (p.Val162Glu) c.533T>A (p.Val178Glu) c.455T>A (p.Val152Glu) c.470T>A (p.Val157Glu) n.611T>A | gnomAD v4 |
16 | g.20348916C>A | CA394986152 | UMOD | c.385G>T (p.Val129Leu) c.484G>T (p.Val162Leu) c.532G>T (p.Val178Leu) c.454G>T (p.Val152Leu) c.469G>T (p.Val157Leu) n.610G>T | gnomAD v4 |
16 | g.20348916C>G | CA394986153 | UMOD | c.385G>C (p.Val129Leu) c.484G>C (p.Val162Leu) c.532G>C (p.Val178Leu) c.454G>C (p.Val152Leu) c.469G>C (p.Val157Leu) n.610G>C | |
16 | g.20348916C>T | CA394986154 | UMOD | c.385G>A (p.Val129Met) c.484G>A (p.Val162Met) c.532G>A (p.Val178Met) c.454G>A (p.Val152Met) c.469G>A (p.Val157Met) n.610G>A | gnomAD v4 |
16 | g.20348917A>C | CA394986155 | UMOD | c.384T>G (p.Asn128Lys) c.483T>G (p.Asn161Lys) c.531T>G (p.Asn177Lys) c.453T>G (p.Asn151Lys) c.468T>G (p.Asn156Lys) n.609T>G | |
16 | g.20348917A>G | CA494097396 | UMOD | c.384T>C (p.Asn128=) c.483T>C (p.Asn161=) c.531T>C (p.Asn177=) c.453T>C (p.Asn151=) c.468T>C (p.Asn156=) n.609T>C | gnomAD v4 |
16 | g.20348917A>T | CA394986157 | UMOD | c.384T>A (p.Asn128Lys) c.483T>A (p.Asn161Lys) c.531T>A (p.Asn177Lys) c.453T>A (p.Asn151Lys) c.468T>A (p.Asn156Lys) n.609T>A | gnomAD v4 |
16 | g.20348918T>A | CA394986159 | UMOD | c.383A>T (p.Asn128Ile) c.482A>T (p.Asn161Ile) c.530A>T (p.Asn177Ile) c.452A>T (p.Asn151Ile) c.467A>T (p.Asn156Ile) n.608A>T | |
16 | g.20348918T>C | CA256248 | UMOD | c.383A>G (p.Asn128Ser) c.482A>G (p.Asn161Ser) c.530A>G (p.Asn177Ser) c.452A>G (p.Asn151Ser) c.467A>G (p.Asn156Ser) n.608A>G | ClinVar dbSNP gnomAD v4 |
16 | g.20348918T>G | CA394986161 | UMOD | c.383A>C (p.Asn128Thr) c.482A>C (p.Asn161Thr) c.530A>C (p.Asn177Thr) c.452A>C (p.Asn151Thr) c.467A>C (p.Asn156Thr) n.608A>C | |
16 | g.20348918T= | CA2211943099 | UMOD | c.383A= (p.Asn128=) c.482A= (p.Asn161=) c.530A= (p.Asn177=) c.452A= (p.Asn151=) c.467A= (p.Asn156=) n.608A= | |
16 | g.20348918_20348919insA | CA2573332479 | UMOD | c.382_383insT (p.Asn128IlefsTer22) c.481_482insT (p.Asn161IlefsTer22) c.529_530insT (p.Asn177IlefsTer22) c.451_452insT (p.Asn151IlefsTer?) c.466_467insT (p.Asn156IlefsTer22) n.607_608insT | ClinVar |
16 | g.20348919T>A | CA394986163 | UMOD | c.382A>T (p.Asn128Tyr) c.481A>T (p.Asn161Tyr) c.529A>T (p.Asn177Tyr) c.451A>T (p.Asn151Tyr) c.466A>T (p.Asn156Tyr) n.607A>T | dbSNP |
16 | g.20348919T>C | CA394986165 | UMOD | c.382A>G (p.Asn128Asp) c.481A>G (p.Asn161Asp) c.529A>G (p.Asn177Asp) c.451A>G (p.Asn151Asp) c.466A>G (p.Asn156Asp) n.607A>G | |
16 | g.20348919T>G | CA394986166 | UMOD | c.382A>C (p.Asn128His) c.481A>C (p.Asn161His) c.529A>C (p.Asn177His) c.451A>C (p.Asn151His) c.466A>C (p.Asn156His) n.607A>C | |
16 | g.20348919T= | CA2211943103 | UMOD | c.382A= (p.Asn128=) c.481A= (p.Asn161=) c.529A= (p.Asn177=) c.451A= (p.Asn151=) c.466A= (p.Asn156=) n.607A= | |
16 | g.20348920G>A | CA494097404 | UMOD | c.381C>T (p.Val127=) c.480C>T (p.Val160=) c.528C>T (p.Val176=) c.450C>T (p.Val150=) c.465C>T (p.Val155=) n.606C>T | gnomAD v4 |
16 | g.20348920G>C | CA494097405 | UMOD | c.381C>G (p.Val127=) c.480C>G (p.Val160=) c.528C>G (p.Val176=) c.450C>G (p.Val150=) c.465C>G (p.Val155=) n.606C>G | |
16 | g.20348920G>T | CA494097407 | UMOD | c.381C>A (p.Val127=) c.480C>A (p.Val160=) c.528C>A (p.Val176=) c.450C>A (p.Val150=) c.465C>A (p.Val155=) n.606C>A | gnomAD v4 |
16 | g.20348921A>C | CA394986169 | UMOD | c.380T>G (p.Val127Gly) c.479T>G (p.Val160Gly) c.527T>G (p.Val176Gly) c.449T>G (p.Val150Gly) c.464T>G (p.Val155Gly) n.605T>G | |
16 | g.20348921A>G | CA394986171 | UMOD | c.380T>C (p.Val127Ala) c.479T>C (p.Val160Ala) c.527T>C (p.Val176Ala) c.449T>C (p.Val150Ala) c.464T>C (p.Val155Ala) n.605T>C | |
16 | g.20348921A>T | CA394986168 | UMOD | c.380T>A (p.Val127Asp) c.479T>A (p.Val160Asp) c.527T>A (p.Val176Asp) c.449T>A (p.Val150Asp) c.464T>A (p.Val155Asp) n.605T>A | ClinVar gnomAD v4 |
16 | g.20348922C>A | CA394986176 | UMOD | c.379G>T (p.Val127Phe) c.478G>T (p.Val160Phe) c.526G>T (p.Val176Phe) c.448G>T (p.Val150Phe) c.463G>T (p.Val155Phe) n.604G>T | gnomAD v4 |
16 | g.20348922C= | CA2211943107 | UMOD | c.379G= (p.Val127=) c.478G= (p.Val160=) c.526G= (p.Val176=) c.448G= (p.Val150=) c.463G= (p.Val155=) n.604G= | |
16 | g.20348922C>G | CA394986173 | UMOD | c.379G>C (p.Val127Leu) c.478G>C (p.Val160Leu) c.526G>C (p.Val176Leu) c.448G>C (p.Val150Leu) c.463G>C (p.Val155Leu) n.604G>C | gnomAD v4 |
16 | g.20348922C>T | CA394986174 | UMOD | c.379G>A (p.Val127Ile) c.478G>A (p.Val160Ile) c.526G>A (p.Val176Ile) c.448G>A (p.Val150Ile) c.463G>A (p.Val155Ile) n.604G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348923A>C | CA394986178 | UMOD | c.378T>G (p.Cys126Trp) c.477T>G (p.Cys159Trp) c.525T>G (p.Cys175Trp) c.447T>G (p.Cys149Trp) c.462T>G (p.Cys154Trp) n.603T>G | |
16 | g.20348923A>G | CA494097412 | UMOD | c.378T>C (p.Cys126=) c.477T>C (p.Cys159=) c.525T>C (p.Cys175=) c.447T>C (p.Cys149=) c.462T>C (p.Cys154=) n.603T>C | gnomAD v4 |
16 | g.20348923A>T | CA394986179 | UMOD | c.378T>A (p.Cys126Ter) c.477T>A (p.Cys159Ter) c.525T>A (p.Cys175Ter) c.447T>A (p.Cys149Ter) c.462T>A (p.Cys154Ter) n.603T>A | gnomAD v4 |
16 | g.20348924C>A | CA394986186 | UMOD | c.377G>T (p.Cys126Phe) c.476G>T (p.Cys159Phe) c.524G>T (p.Cys175Phe) c.446G>T (p.Cys149Phe) c.461G>T (p.Cys154Phe) n.602G>T | gnomAD v4 |
16 | g.20348924C>G | CA394986188 | UMOD | c.377G>C (p.Cys126Ser) c.476G>C (p.Cys159Ser) c.524G>C (p.Cys175Ser) c.446G>C (p.Cys149Ser) c.461G>C (p.Cys154Ser) n.602G>C | |
16 | g.20348924C>T | CA394986189 | UMOD | c.377G>A (p.Cys126Tyr) c.476G>A (p.Cys159Tyr) c.524G>A (p.Cys175Tyr) c.446G>A (p.Cys149Tyr) c.461G>A (p.Cys154Tyr) n.602G>A | gnomAD v4 |
16 | g.20348925A= | CA2211943120 | UMOD | c.376T= (p.Cys126=) c.475T= (p.Cys159=) c.523T= (p.Cys175=) c.376T= c.445T= (p.Cys149=) c.460T= (p.Cys154=) n.601T= | |
16 | g.20348925A>C | CA394986192 | UMOD | c.376T>G (p.Cys126Gly) c.475T>G (p.Cys159Gly) c.523T>G (p.Cys175Gly) c.376T>G c.445T>G (p.Cys149Gly) c.460T>G (p.Cys154Gly) n.601T>G | |
16 | g.20348925A>G | CA256246 | UMOD | c.376T>C (p.Cys126Arg) c.475T>C (p.Cys159Arg) c.523T>C (p.Cys175Arg) c.376T>C c.445T>C (p.Cys149Arg) c.460T>C (p.Cys154Arg) n.601T>C | ClinVar dbSNP |
16 | g.20348925A>T | CA394986195 | UMOD | c.376T>A (p.Cys126Ser) c.475T>A (p.Cys159Ser) c.523T>A (p.Cys175Ser) c.376T>A c.445T>A (p.Cys149Ser) c.460T>A (p.Cys154Ser) n.601T>A | |
16 | g.20348926T>A | CA494096857 | UMOD | c.375A>T (p.Thr125=) c.474A>T (p.Thr158=) c.522A>T (p.Thr174=) c.444A>T (p.Thr148=) c.459A>T (p.Thr153=) n.600A>T | |
16 | g.20348926T>C | CA279300062 | UMOD | c.375A>G (p.Thr125=) c.474A>G (p.Thr158=) c.522A>G (p.Thr174=) c.444A>G (p.Thr148=) c.459A>G (p.Thr153=) n.600A>G | dbSNP gnomAD v4 |
16 | g.20348926T>G | CA494096860 | UMOD | c.375A>C (p.Thr125=) c.474A>C (p.Thr158=) c.522A>C (p.Thr174=) c.444A>C (p.Thr148=) c.459A>C (p.Thr153=) n.600A>C | |
16 | g.20348926T= | CA2211943130 | UMOD | c.375A= (p.Thr125=) c.474A= (p.Thr158=) c.522A= (p.Thr174=) c.444A= (p.Thr148=) c.459A= (p.Thr153=) n.600A= | |
16 | g.20348927G>A | CA394986198 | UMOD | c.374C>T (p.Thr125Ile) c.473C>T (p.Thr158Ile) c.521C>T (p.Thr174Ile) c.443C>T (p.Thr148Ile) c.458C>T (p.Thr153Ile) n.599C>T | gnomAD v4 |
16 | g.20348927G>C | CA394986201 | UMOD | c.374C>G (p.Thr125Arg) c.473C>G (p.Thr158Arg) c.521C>G (p.Thr174Arg) c.443C>G (p.Thr148Arg) c.458C>G (p.Thr153Arg) n.599C>G | |
16 | g.20348927G>T | CA394986203 | UMOD | c.374C>A (p.Thr125Lys) c.473C>A (p.Thr158Lys) c.521C>A (p.Thr174Lys) c.443C>A (p.Thr148Lys) c.458C>A (p.Thr153Lys) n.599C>A | gnomAD v4 |
16 | g.20348928T>A | CA394986204 | UMOD | c.373A>T (p.Thr125Ser) c.472A>T (p.Thr158Ser) c.520A>T (p.Thr174Ser) c.442A>T (p.Thr148Ser) c.457A>T (p.Thr153Ser) n.598A>T | gnomAD v4 |
16 | g.20348928T>C | CA394986210 | UMOD | c.373A>G (p.Thr125Ala) c.472A>G (p.Thr158Ala) c.520A>G (p.Thr174Ala) c.442A>G (p.Thr148Ala) c.457A>G (p.Thr153Ala) n.598A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348928T>G | CA394986208 | UMOD | c.373A>C (p.Thr125Pro) c.472A>C (p.Thr158Pro) c.520A>C (p.Thr174Pro) c.442A>C (p.Thr148Pro) c.457A>C (p.Thr153Pro) n.598A>C | |
16 | g.20348928T= | CA2211943131 | UMOD | c.373A= (p.Thr125=) c.472A= (p.Thr158=) c.520A= (p.Thr174=) c.442A= (p.Thr148=) c.457A= (p.Thr153=) n.598A= | |
16 | g.20348929G>A | CA494096864 | UMOD | c.372C>T (p.Ala124=) c.471C>T (p.Ala157=) c.519C>T (p.Ala173=) c.441C>T (p.Ala147=) c.456C>T (p.Ala152=) n.597C>T | gnomAD v4 |
16 | g.20348929G>C | CA494096866 | UMOD | c.372C>G (p.Ala124=) c.471C>G (p.Ala157=) c.519C>G (p.Ala173=) c.441C>G (p.Ala147=) c.456C>G (p.Ala152=) n.597C>G | |
16 | g.20348929G>T | CA494096865 | UMOD | c.372C>A (p.Ala124=) c.471C>A (p.Ala157=) c.519C>A (p.Ala173=) c.441C>A (p.Ala147=) c.456C>A (p.Ala152=) n.597C>A | gnomAD v4 |
16 | g.20348930G>A | CA394986211 | UMOD | c.371C>T (p.Ala124Val) c.470C>T (p.Ala157Val) c.518C>T (p.Ala173Val) c.440C>T (p.Ala147Val) c.455C>T (p.Ala152Val) n.596C>T | gnomAD v4 |
16 | g.20348930G>C | CA394986212 | UMOD | c.371C>G (p.Ala124Gly) c.470C>G (p.Ala157Gly) c.518C>G (p.Ala173Gly) c.440C>G (p.Ala147Gly) c.455C>G (p.Ala152Gly) n.596C>G | |
16 | g.20348930G>T | CA394986213 | UMOD | c.371C>A (p.Ala124Asp) c.470C>A (p.Ala157Asp) c.518C>A (p.Ala173Asp) c.440C>A (p.Ala147Asp) c.455C>A (p.Ala152Asp) n.596C>A | gnomAD v4 |
16 | g.20348931C>A | CA394986215 | UMOD | c.370G>T (p.Ala124Ser) c.469G>T (p.Ala157Ser) c.517G>T (p.Ala173Ser) c.439G>T (p.Ala147Ser) c.454G>T (p.Ala152Ser) n.595G>T | gnomAD v4 |
16 | g.20348931C>G | CA394986216 | UMOD | c.370G>C (p.Ala124Pro) c.469G>C (p.Ala157Pro) c.517G>C (p.Ala173Pro) c.439G>C (p.Ala147Pro) c.454G>C (p.Ala152Pro) n.595G>C | |
16 | g.20348931C>T | CA394986219 | UMOD | c.370G>A (p.Ala124Thr) c.469G>A (p.Ala157Thr) c.517G>A (p.Ala173Thr) c.439G>A (p.Ala147Thr) c.454G>A (p.Ala152Thr) n.595G>A | gnomAD v4 |
16 | g.20348932C>A | CA494096873 | UMOD | c.369G>T (p.Leu123=) c.468G>T (p.Leu156=) c.516G>T (p.Leu172=) c.438G>T (p.Leu146=) c.453G>T (p.Leu151=) n.594G>T | |
16 | g.20348932C= | CA2211943135 | UMOD | c.369G= (p.Leu123=) c.468G= (p.Leu156=) c.516G= (p.Leu172=) c.438G= (p.Leu146=) c.453G= (p.Leu151=) n.594G= | |
16 | g.20348932C>G | CA494096874 | UMOD | c.369G>C (p.Leu123=) c.468G>C (p.Leu156=) c.516G>C (p.Leu172=) c.438G>C (p.Leu146=) c.453G>C (p.Leu151=) n.594G>C | |
16 | g.20348932C>T | CA494096875 | UMOD | c.369G>A (p.Leu123=) c.468G>A (p.Leu156=) c.516G>A (p.Leu172=) c.438G>A (p.Leu146=) c.453G>A (p.Leu151=) n.594G>A | ClinVar dbSNP gnomAD v4 |
16 | g.20348933A>C | CA394986223 | UMOD | c.368T>G (p.Leu123Arg) c.467T>G (p.Leu156Arg) c.515T>G (p.Leu172Arg) c.437T>G (p.Leu146Arg) c.452T>G (p.Leu151Arg) n.593T>G | |
16 | g.20348933A>G | CA394986226 | UMOD | c.368T>C (p.Leu123Pro) c.467T>C (p.Leu156Pro) c.515T>C (p.Leu172Pro) c.437T>C (p.Leu146Pro) c.452T>C (p.Leu151Pro) n.593T>C | gnomAD v4 |
16 | g.20348933A>T | CA394986227 | UMOD | c.368T>A (p.Leu123Gln) c.467T>A (p.Leu156Gln) c.515T>A (p.Leu172Gln) c.437T>A (p.Leu146Gln) c.452T>A (p.Leu151Gln) n.593T>A | |
16 | g.20348934G>A | CA494096876 | UMOD | c.367C>T (p.Leu123=) c.466C>T (p.Leu156=) c.514C>T (p.Leu172=) c.436C>T (p.Leu146=) c.451C>T (p.Leu151=) n.592C>T | gnomAD v4 |
16 | g.20348934G>C | CA394986228 | UMOD | c.367C>G (p.Leu123Val) c.466C>G (p.Leu156Val) c.514C>G (p.Leu172Val) c.436C>G (p.Leu146Val) c.451C>G (p.Leu151Val) n.592C>G | gnomAD v4 |
16 | g.20348934G>T | CA394986229 | UMOD | c.367C>A (p.Leu123Met) c.466C>A (p.Leu156Met) c.514C>A (p.Leu172Met) c.436C>A (p.Leu146Met) c.451C>A (p.Leu151Met) n.592C>A | gnomAD v4 |
16 | g.20348935G>A | CA494096878 | UMOD | c.366C>T (p.Ala122=) c.465C>T (p.Ala155=) c.513C>T (p.Ala171=) c.435C>T (p.Ala145=) c.450C>T (p.Ala150=) n.591C>T | |
16 | g.20348935G>C | CA494096879 | UMOD | c.366C>G (p.Ala122=) c.465C>G (p.Ala155=) c.513C>G (p.Ala171=) c.435C>G (p.Ala145=) c.450C>G (p.Ala150=) n.591C>G | gnomAD v4 |
16 | g.20348935G>T | CA494096880 | UMOD | c.366C>A (p.Ala122=) c.465C>A (p.Ala155=) c.513C>A (p.Ala171=) c.435C>A (p.Ala145=) c.450C>A (p.Ala150=) n.591C>A | gnomAD v4 |
16 | g.20348936G>A | CA394986231 | UMOD | c.365C>T (p.Ala122Val) c.464C>T (p.Ala155Val) c.512C>T (p.Ala171Val) c.434C>T (p.Ala145Val) c.449C>T (p.Ala150Val) n.590C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348936G>C | CA394986232 | UMOD | c.365C>G (p.Ala122Gly) c.464C>G (p.Ala155Gly) c.512C>G (p.Ala171Gly) c.434C>G (p.Ala145Gly) c.449C>G (p.Ala150Gly) n.590C>G | |
16 | g.20348936G= | CA2211943146 | UMOD | c.365C= (p.Ala122=) c.464C= (p.Ala155=) c.512C= (p.Ala171=) c.434C= (p.Ala145=) c.449C= (p.Ala150=) n.590C= | |
16 | g.20348936G>T | CA394986230 | UMOD | c.365C>A (p.Ala122Asp) c.464C>A (p.Ala155Asp) c.512C>A (p.Ala171Asp) c.434C>A (p.Ala145Asp) c.449C>A (p.Ala150Asp) n.590C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348937C>A | CA394986235 | UMOD | c.364G>T (p.Ala122Ser) c.463G>T (p.Ala155Ser) c.511G>T (p.Ala171Ser) c.433G>T (p.Ala145Ser) c.448G>T (p.Ala150Ser) n.589G>T | gnomAD v4 |
16 | g.20348937C>G | CA394986239 | UMOD | c.364G>C (p.Ala122Pro) c.463G>C (p.Ala155Pro) c.511G>C (p.Ala171Pro) c.433G>C (p.Ala145Pro) c.448G>C (p.Ala150Pro) n.589G>C | gnomAD v4 |
16 | g.20348937C>T | CA394986241 | UMOD | c.364G>A (p.Ala122Thr) c.463G>A (p.Ala155Thr) c.511G>A (p.Ala171Thr) c.433G>A (p.Ala145Thr) c.448G>A (p.Ala150Thr) n.589G>A | gnomAD v4 |
16 | g.20348938G>A | CA494096886 | UMOD | c.363C>T (p.His121=) c.462C>T (p.His154=) c.510C>T (p.His170=) c.432C>T (p.His144=) c.447C>T (p.His149=) n.588C>T | gnomAD v4 |
16 | g.20348938G>C | CA394986245 | UMOD | c.363C>G (p.His121Gln) c.462C>G (p.His154Gln) c.510C>G (p.His170Gln) c.432C>G (p.His144Gln) c.447C>G (p.His149Gln) n.588C>G | |
16 | g.20348938G>T | CA394986246 | UMOD | c.363C>A (p.His121Gln) c.462C>A (p.His154Gln) c.510C>A (p.His170Gln) c.432C>A (p.His144Gln) c.447C>A (p.His149Gln) n.588C>A | gnomAD v4 |
16 | g.20348939T>A | CA394986249 | UMOD | c.362A>T (p.His121Leu) c.461A>T (p.His154Leu) c.509A>T (p.His170Leu) c.431A>T (p.His144Leu) c.446A>T (p.His149Leu) n.587A>T | |
16 | g.20348939T>C | CA279300063 | UMOD | c.362A>G (p.His121Arg) c.461A>G (p.His154Arg) c.509A>G (p.His170Arg) c.431A>G (p.His144Arg) c.446A>G (p.His149Arg) n.587A>G | ClinVar dbSNP gnomAD v4 |
16 | g.20348939T>G | CA394986254 | UMOD | c.362A>C (p.His121Pro) c.461A>C (p.His154Pro) c.509A>C (p.His170Pro) c.431A>C (p.His144Pro) c.446A>C (p.His149Pro) n.587A>C | |
16 | g.20348939T= | CA2211943155 | UMOD | c.362A= (p.His121=) c.461A= (p.His154=) c.509A= (p.His170=) c.431A= (p.His144=) c.446A= (p.His149=) n.587A= | |
16 | g.20348940G>A | CA7939456 | UMOD | c.361C>T (p.His121Tyr) c.460C>T (p.His154Tyr) c.508C>T (p.His170Tyr) c.430C>T (p.His144Tyr) c.445C>T (p.His149Tyr) n.586C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.20348940G>C | CA394986258 | UMOD | c.361C>G (p.His121Asp) c.460C>G (p.His154Asp) c.508C>G (p.His170Asp) c.430C>G (p.His144Asp) c.445C>G (p.His149Asp) n.586C>G | gnomAD v4 |
16 | g.20348940G= | CA2211943161 | UMOD | c.361C= (p.His121=) c.460C= (p.His154=) c.508C= (p.His170=) c.430C= (p.His144=) c.445C= (p.His149=) n.586C= | |
16 | g.20348940G>T | CA394986260 | UMOD | c.361C>A (p.His121Asn) c.460C>A (p.His154Asn) c.508C>A (p.His170Asn) c.430C>A (p.His144Asn) c.445C>A (p.His149Asn) n.586C>A | gnomAD v4 |
16 | g.20348941G>A | CA494096893 | UMOD | c.360C>T (p.Cys120=) c.459C>T (p.Cys153=) c.507C>T (p.Cys169=) c.429C>T (p.Cys143=) c.444C>T (p.Cys148=) n.585C>T | gnomAD v4 |
16 | g.20348941G>C | CA394986263 | UMOD | c.360C>G (p.Cys120Trp) c.459C>G (p.Cys153Trp) c.507C>G (p.Cys169Trp) c.429C>G (p.Cys143Trp) c.444C>G (p.Cys148Trp) n.585C>G | |
16 | g.20348941G= | CA2211943165 | UMOD | c.360C= (p.Cys120=) c.459C= (p.Cys153=) c.507C= (p.Cys169=) c.429C= (p.Cys143=) c.444C= (p.Cys148=) n.585C= | |
16 | g.20348941G>T | CA394986267 | UMOD | c.360C>A (p.Cys120Ter) c.459C>A (p.Cys153Ter) c.507C>A (p.Cys169Ter) c.429C>A (p.Cys143Ter) c.444C>A (p.Cys148Ter) n.585C>A | dbSNP gnomAD v4 |
16 | g.20348942C>A | CA394986273 | UMOD | c.359G>T (p.Cys120Phe) c.458G>T (p.Cys153Phe) c.506G>T (p.Cys169Phe) c.428G>T (p.Cys143Phe) c.443G>T (p.Cys148Phe) n.584G>T | ClinVar gnomAD v4 |
16 | g.20348942C= | CA2211943172 | UMOD | c.359G= (p.Cys120=) c.458G= (p.Cys153=) c.506G= (p.Cys169=) c.428G= (p.Cys143=) c.443G= (p.Cys148=) n.584G= | |
16 | g.20348942C>G | CA394986271 | UMOD | c.359G>C (p.Cys120Ser) c.458G>C (p.Cys153Ser) c.506G>C (p.Cys169Ser) c.428G>C (p.Cys143Ser) c.443G>C (p.Cys148Ser) n.584G>C | |
16 | g.20348942C>T | CA394986269 | UMOD | c.359G>A (p.Cys120Tyr) c.458G>A (p.Cys153Tyr) c.506G>A (p.Cys169Tyr) c.428G>A (p.Cys143Tyr) c.443G>A (p.Cys148Tyr) n.584G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348943A= | CA2211943173 | UMOD | c.358T= (p.Cys120=) c.457T= (p.Cys153=) c.505T= (p.Cys169=) c.427T= (p.Cys143=) c.442T= (p.Cys148=) n.583T= | |
16 | g.20348943A>C | CA394986277 | UMOD | c.358T>G (p.Cys120Gly) c.457T>G (p.Cys153Gly) c.505T>G (p.Cys169Gly) c.427T>G (p.Cys143Gly) c.442T>G (p.Cys148Gly) n.583T>G | ClinVar dbSNP |
16 | g.20348943A>G | CA394986280 | UMOD | c.358T>C (p.Cys120Arg) c.457T>C (p.Cys153Arg) c.505T>C (p.Cys169Arg) c.427T>C (p.Cys143Arg) c.442T>C (p.Cys148Arg) n.583T>C | ClinVar |
16 | g.20348943A>T | CA394986286 | UMOD | c.358T>A (p.Cys120Ser) c.457T>A (p.Cys153Ser) c.505T>A (p.Cys169Ser) c.427T>A (p.Cys143Ser) c.442T>A (p.Cys148Ser) n.583T>A | gnomAD v4 |
16 | g.20348944G>A | CA494096898 | UMOD | c.357C>T (p.His119=) c.456C>T (p.His152=) c.504C>T (p.His168=) c.426C>T (p.His142=) c.441C>T (p.His147=) n.582C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348944G>C | CA394986288 | UMOD | c.357C>G (p.His119Gln) c.456C>G (p.His152Gln) c.504C>G (p.His168Gln) c.426C>G (p.His142Gln) c.441C>G (p.His147Gln) n.582C>G | |
16 | g.20348944G= | CA2211943177 | UMOD | c.357C= (p.His119=) c.456C= (p.His152=) c.504C= (p.His168=) c.426C= (p.His142=) c.441C= (p.His147=) n.582C= | |
16 | g.20348944G>T | CA394986289 | UMOD | c.357C>A (p.His119Gln) c.456C>A (p.His152Gln) c.504C>A (p.His168Gln) c.426C>A (p.His142Gln) c.441C>A (p.His147Gln) n.582C>A | gnomAD v4 COSMIC COSMIC |
16 | g.20348945T>A | CA394986292 | UMOD | c.356A>T (p.His119Leu) c.455A>T (p.His152Leu) c.503A>T (p.His168Leu) c.425A>T (p.His142Leu) c.440A>T (p.His147Leu) n.581A>T | |
16 | g.20348945T>C | CA394986295 | UMOD | c.356A>G (p.His119Arg) c.455A>G (p.His152Arg) c.503A>G (p.His168Arg) c.425A>G (p.His142Arg) c.440A>G (p.His147Arg) n.581A>G | |
16 | g.20348945T>G | CA394986300 | UMOD | c.356A>C (p.His119Pro) c.455A>C (p.His152Pro) c.503A>C (p.His168Pro) c.425A>C (p.His142Pro) c.440A>C (p.His147Pro) n.581A>C | |
16 | g.20348946G>A | CA394986304 | UMOD | c.355C>T (p.His119Tyr) c.454C>T (p.His152Tyr) c.502C>T (p.His168Tyr) c.424C>T (p.His142Tyr) c.439C>T (p.His147Tyr) n.580C>T | gnomAD v4 |
16 | g.20348946G>C | CA394986306 | UMOD | c.355C>G (p.His119Asp) c.454C>G (p.His152Asp) c.502C>G (p.His168Asp) c.424C>G (p.His142Asp) c.439C>G (p.His147Asp) n.580C>G | |
16 | g.20348946G>T | CA394986308 | UMOD | c.355C>A (p.His119Asn) c.454C>A (p.His152Asn) c.502C>A (p.His168Asn) c.424C>A (p.His142Asn) c.439C>A (p.His147Asn) n.580C>A | gnomAD v4 |
16 | g.20348947G>A | CA494096902 | UMOD | c.354C>T (p.Ser118=) c.453C>T (p.Ser151=) c.501C>T (p.Ser167=) c.423C>T (p.Ser141=) c.438C>T (p.Ser146=) n.579C>T | gnomAD v4 |
16 | g.20348947G>C | CA394986312 | UMOD | c.354C>G (p.Ser118Arg) c.453C>G (p.Ser151Arg) c.501C>G (p.Ser167Arg) c.423C>G (p.Ser141Arg) c.438C>G (p.Ser146Arg) n.579C>G | |
16 | g.20348947G>T | CA394986315 | UMOD | c.354C>A (p.Ser118Arg) c.453C>A (p.Ser151Arg) c.501C>A (p.Ser167Arg) c.423C>A (p.Ser141Arg) c.438C>A (p.Ser146Arg) n.579C>A | gnomAD v4 |
16 | g.20348948C>A | CA394986324 | UMOD | c.353G>T (p.Ser118Ile) c.452G>T (p.Ser151Ile) c.500G>T (p.Ser167Ile) c.422G>T (p.Ser141Ile) c.437G>T (p.Ser146Ile) n.578G>T | gnomAD v4 |
16 | g.20348948C= | CA2211943185 | UMOD | c.353G= (p.Ser118=) c.452G= (p.Ser151=) c.500G= (p.Ser167=) c.422G= (p.Ser141=) c.437G= (p.Ser146=) n.578G= | |
16 | g.20348948C>G | CA394986322 | UMOD | c.353G>C (p.Ser118Thr) c.452G>C (p.Ser151Thr) c.500G>C (p.Ser167Thr) c.422G>C (p.Ser141Thr) c.437G>C (p.Ser146Thr) n.578G>C | gnomAD v4 |
16 | g.20348948C>T | CA394986320 | UMOD | c.353G>A (p.Ser118Asn) c.452G>A (p.Ser151Asn) c.500G>A (p.Ser167Asn) c.422G>A (p.Ser141Asn) c.437G>A (p.Ser146Asn) n.578G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348949T>A | CA394986327 | UMOD | c.352A>T (p.Ser118Cys) c.451A>T (p.Ser151Cys) c.499A>T (p.Ser167Cys) c.421A>T (p.Ser141Cys) c.436A>T (p.Ser146Cys) n.577A>T | |
16 | g.20348949T>C | CA394986338 | UMOD | c.352A>G (p.Ser118Gly) c.451A>G (p.Ser151Gly) c.499A>G (p.Ser167Gly) c.421A>G (p.Ser141Gly) c.436A>G (p.Ser146Gly) n.577A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.20348949T>G | CA394986331 | UMOD | c.352A>C (p.Ser118Arg) c.451A>C (p.Ser151Arg) c.499A>C (p.Ser167Arg) c.421A>C (p.Ser141Arg) c.436A>C (p.Ser146Arg) n.577A>C | |
16 | g.20348949T= | CA2211943187 | UMOD | c.352A= (p.Ser118=) c.451A= (p.Ser151=) c.499A= (p.Ser167=) c.421A= (p.Ser141=) c.436A= (p.Ser146=) n.577A= | |
16 | g.20348950A= | CA2211943190 | UMOD | c.351T= (p.Leu117=) c.450T= (p.Leu150=) c.498T= (p.Leu166=) c.420T= (p.Leu140=) c.435T= (p.Leu145=) n.576T= | |
16 | g.20348950A>C | CA494096907 | UMOD | c.351T>G (p.Leu117=) c.450T>G (p.Leu150=) c.498T>G (p.Leu166=) c.420T>G (p.Leu140=) c.435T>G (p.Leu145=) n.576T>G | |
16 | g.20348950A>G | CA494096908 | UMOD | c.351T>C (p.Leu117=) c.450T>C (p.Leu150=) c.498T>C (p.Leu166=) c.420T>C (p.Leu140=) c.435T>C (p.Leu145=) n.576T>C | |
16 | g.20348950A>T | CA494096910 | UMOD | c.351T>A (p.Leu117=) c.450T>A (p.Leu150=) c.498T>A (p.Leu166=) c.420T>A (p.Leu140=) c.435T>A (p.Leu145=) n.576T>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.20348951A>C | CA394986340 | UMOD | c.350T>G (p.Leu117Arg) c.449T>G (p.Leu150Arg) c.497T>G (p.Leu166Arg) c.419T>G (p.Leu140Arg) c.434T>G (p.Leu145Arg) n.575T>G | |
16 | g.20348951A>G | CA394986345 | UMOD | c.350T>C (p.Leu117Pro) c.449T>C (p.Leu150Pro) c.497T>C (p.Leu166Pro) c.419T>C (p.Leu140Pro) c.434T>C (p.Leu145Pro) n.575T>C | |
16 | g.20348951A>T | CA394986341 | UMOD | c.350T>A (p.Leu117His) c.449T>A (p.Leu150His) c.497T>A (p.Leu166His) c.419T>A (p.Leu140His) c.434T>A (p.Leu145His) n.575T>A | |
16 | g.20348952G>A | CA7939457 | UMOD | c.349C>T (p.Leu117Phe) c.448C>T (p.Leu150Phe) c.496C>T (p.Leu166Phe) c.418C>T (p.Leu140Phe) c.433C>T (p.Leu145Phe) n.574C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.20348952G>C | CA394986349 | UMOD | c.349C>G (p.Leu117Val) c.448C>G (p.Leu150Val) c.496C>G (p.Leu166Val) c.418C>G (p.Leu140Val) c.433C>G (p.Leu145Val) n.574C>G | |
16 | g.20348952G= | CA2211943191 | UMOD | c.349C= (p.Leu117=) c.448C= (p.Leu150=) c.496C= (p.Leu166=) c.418C= (p.Leu140=) c.433C= (p.Leu145=) n.574C= | |
16 | g.20348952G>T | CA394986351 | UMOD | c.349C>A (p.Leu117Ile) c.448C>A (p.Leu150Ile) c.496C>A (p.Leu166Ile) c.418C>A (p.Leu140Ile) c.433C>A (p.Leu145Ile) n.574C>A | gnomAD v4 |