| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.22661036C>A | CA338947277 | C1QB | c.406C>A (p.Gln136Lys) c.432C>A (p.Thr144=) c.513C>A (p.Thr171=) c.484C>A (p.Gln162Lys) c.471C>A (p.Thr157=) c.397C>A (p.Gln133Lys) c.*575C>A (n.*575C>A) c.412C>A (p.Gln138Lys) | |
| 1 | g.22661036C>G | CA338947281 | C1QB | c.406C>G (p.Gln136Glu) c.432C>G (p.Thr144=) c.513C>G (p.Thr171=) c.484C>G (p.Gln162Glu) c.471C>G (p.Thr157=) c.397C>G (p.Gln133Glu) c.*575C>G (n.*575C>G) c.412C>G (p.Gln138Glu) | |
| 1 | g.22661036C>T | CA338947284 | C1QB | c.406C>T (p.Gln136Ter) c.432C>T (p.Thr144=) c.513C>T (p.Thr171=) c.484C>T (p.Gln162Ter) c.471C>T (p.Thr157=) c.397C>T (p.Gln133Ter) c.*575C>T (n.*575C>T) c.412C>T (p.Gln138Ter) | |
| 1 | g.22661037A>C | CA338947285 | C1QB | c.407A>C (p.Gln136Pro) c.433A>C (p.Arg145=) c.514A>C (p.Arg172=) c.485A>C (p.Gln162Pro) c.472A>C (p.Arg158=) c.398A>C (p.Gln133Pro) c.*576A>C (n.*576A>C) c.413A>C (p.Gln138Pro) | |
| 1 | g.22661037A>G | CA338947289 | C1QB | c.407A>G (p.Gln136Arg) c.433A>G (p.Arg145Gly) c.514A>G (p.Arg172Gly) c.485A>G (p.Gln162Arg) c.472A>G (p.Arg158Gly) c.398A>G (p.Gln133Arg) c.*576A>G (n.*576A>G) c.413A>G (p.Gln138Arg) | |
| 1 | g.22661037A>T | CA338947290 | C1QB | c.407A>T (p.Gln136Leu) c.433A>T (p.Arg145Ter) c.514A>T (p.Arg172Ter) c.485A>T (p.Gln162Leu) c.472A>T (p.Arg158Ter) c.398A>T (p.Gln133Leu) c.*576A>T (n.*576A>T) c.413A>T (p.Gln138Leu) | |
| 1 | g.22661038G>A | CA416684362 | C1QB | c.408G>A (p.Gln136=) c.434G>A (p.Arg145Lys) c.515G>A (p.Arg172Lys) c.486G>A (p.Gln162=) c.473G>A (p.Arg158Lys) c.399G>A (p.Gln133=) c.*577G>A (n.*577G>A) c.414G>A (p.Gln138=) | |
| 1 | g.22661038G>C | CA338947291 | C1QB | c.408G>C (p.Gln136His) c.434G>C (p.Arg145Thr) c.515G>C (p.Arg172Thr) c.486G>C (p.Gln162His) c.473G>C (p.Arg158Thr) c.399G>C (p.Gln133His) c.*577G>C (n.*577G>C) c.414G>C (p.Gln138His) | |
| 1 | g.22661038G>T | CA338947292 | C1QB | c.408G>T (p.Gln136His) c.434G>T (p.Arg145Ile) c.515G>T (p.Arg172Ile) c.486G>T (p.Gln162His) c.473G>T (p.Arg158Ile) c.399G>T (p.Gln133His) c.*577G>T (n.*577G>T) c.414G>T (p.Gln138His) | |
| 1 | g.22661039A= | CA1158487005 | C1QB | c.409A= (p.Thr137=) c.435A= (p.Arg145=) c.516A= (p.Arg172=) c.487A= (p.Thr163=) c.474A= (p.Arg158=) c.400A= (p.Thr134=) c.*578A= (n.*578A=) c.415A= (p.Thr139=) | |
| 1 | g.22661039A>C | CA338947293 | C1QB | c.409A>C (p.Thr137Pro) c.435A>C (p.Arg145Ser) c.516A>C (p.Arg172Ser) c.487A>C (p.Thr163Pro) c.474A>C (p.Arg158Ser) c.400A>C (p.Thr134Pro) c.*578A>C (n.*578A>C) c.415A>C (p.Thr139Pro) | dbSNP |
| 1 | g.22661039A>G | CA678158 | C1QB | c.409A>G (p.Thr137Ala) c.435A>G (p.Arg145=) c.516A>G (p.Arg172=) c.487A>G (p.Thr163Ala) c.474A>G (p.Arg158=) c.400A>G (p.Thr134Ala) c.*578A>G (n.*578A>G) c.415A>G (p.Thr139Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661039A>T | CA338947294 | C1QB | c.409A>T (p.Thr137Ser) c.435A>T (p.Arg145Ser) c.516A>T (p.Arg172Ser) c.487A>T (p.Thr163Ser) c.474A>T (p.Arg158Ser) c.400A>T (p.Thr134Ser) c.*578A>T (n.*578A>T) c.415A>T (p.Thr139Ser) | |
| 1 | g.22661040C>A | CA678159 | C1QB | c.410C>A (p.Thr137Asn) c.436C>A (p.Pro146Thr) c.517C>A (p.Pro173Thr) c.488C>A (p.Thr163Asn) c.475C>A (p.Pro159Thr) c.401C>A (p.Thr134Asn) c.*579C>A (n.*579C>A) c.416C>A (p.Thr139Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661040C= | CA1158487006 | C1QB | c.410C= (p.Thr137=) c.436C= (p.Pro146=) c.517C= (p.Pro173=) c.488C= (p.Thr163=) c.475C= (p.Pro159=) c.401C= (p.Thr134=) c.*579C= (n.*579C=) c.416C= (p.Thr139=) | |
| 1 | g.22661040C>G | CA338947300 | C1QB | c.410C>G (p.Thr137Ser) c.436C>G (p.Pro146Ala) c.517C>G (p.Pro173Ala) c.488C>G (p.Thr163Ser) c.475C>G (p.Pro159Ala) c.401C>G (p.Thr134Ser) c.*579C>G (n.*579C>G) c.416C>G (p.Thr139Ser) | dbSNP |
| 1 | g.22661040C>T | CA338947299 | C1QB | c.410C>T (p.Thr137Ile) c.436C>T (p.Pro146Ser) c.517C>T (p.Pro173Ser) c.488C>T (p.Thr163Ile) c.475C>T (p.Pro159Ser) c.401C>T (p.Thr134Ile) c.*579C>T (n.*579C>T) c.416C>T (p.Thr139Ile) | |
| 1 | g.22661041C>A | CA416684367 | C1QB | c.411C>A (p.Thr137=) c.437C>A (p.Pro146Gln) c.518C>A (p.Pro173Gln) c.489C>A (p.Thr163=) c.476C>A (p.Pro159Gln) c.402C>A (p.Thr134=) c.*580C>A (n.*580C>A) c.417C>A (p.Thr139=) | |
| 1 | g.22661041C>G | CA416684368 | C1QB | c.411C>G (p.Thr137=) c.437C>G (p.Pro146Arg) c.518C>G (p.Pro173Arg) c.489C>G (p.Thr163=) c.476C>G (p.Pro159Arg) c.402C>G (p.Thr134=) c.*580C>G (n.*580C>G) c.417C>G (p.Thr139=) | |
| 1 | g.22661041C>T | CA416684369 | C1QB | c.411C>T (p.Thr137=) c.437C>T (p.Pro146Leu) c.518C>T (p.Pro173Leu) c.489C>T (p.Thr163=) c.476C>T (p.Pro159Leu) c.402C>T (p.Thr134=) c.*580C>T (n.*580C>T) c.417C>T (p.Thr139=) | |
| 1 | g.22661042del | CA10575457 | C1QB | c.412del (p.Ile138SerfsTer6) c.438del (p.Ser147ProfsTer14) c.519del (p.Ser174ProfsTer14) c.490del (p.Ile164SerfsTer6) c.477del (p.Ser160ProfsTer14) c.403del (p.Ile135SerfsTer6) c.*581del (n.*581del) c.418del (p.Ile140SerfsTer6) | |
| 1 | g.22661042A= | CA1158487007 | C1QB | c.412A= (p.Ile138=) c.438A= (p.Pro146=) c.519A= (p.Pro173=) c.490A= (p.Ile164=) c.477A= (p.Pro159=) c.403A= (p.Ile135=) c.*581A= (n.*581A=) c.418A= (p.Ile140=) | |
| 1 | g.22661042A>C | CA338947303 | C1QB | c.412A>C (p.Ile138Leu) c.438A>C (p.Pro146=) c.519A>C (p.Pro173=) c.490A>C (p.Ile164Leu) c.477A>C (p.Pro159=) c.403A>C (p.Ile135Leu) c.*581A>C (n.*581A>C) c.418A>C (p.Ile140Leu) | |
| 1 | g.22661042A>G | CA338947321 | C1QB | c.412A>G (p.Ile138Val) c.438A>G (p.Pro146=) c.519A>G (p.Pro173=) c.490A>G (p.Ile164Val) c.477A>G (p.Pro159=) c.403A>G (p.Ile135Val) c.*581A>G (n.*581A>G) c.418A>G (p.Ile140Val) | dbSNP |
| 1 | g.22661042A>T | CA338947327 | C1QB | c.412A>T (p.Ile138Phe) c.438A>T (p.Pro146=) c.519A>T (p.Pro173=) c.490A>T (p.Ile164Phe) c.477A>T (p.Pro159=) c.403A>T (p.Ile135Phe) c.*581A>T (n.*581A>T) c.418A>T (p.Ile140Phe) | |
| 1 | g.22661043T>A | CA338947329 | C1QB | c.413T>A (p.Ile138Asn) c.439T>A (p.Ser147Thr) c.520T>A (p.Ser174Thr) c.491T>A (p.Ile164Asn) c.478T>A (p.Ser160Thr) c.404T>A (p.Ile135Asn) c.*582T>A (n.*582T>A) c.419T>A (p.Ile140Asn) | |
| 1 | g.22661043T>C | CA338947336 | C1QB | c.413T>C (p.Ile138Thr) c.439T>C (p.Ser147Pro) c.520T>C (p.Ser174Pro) c.491T>C (p.Ile164Thr) c.478T>C (p.Ser160Pro) c.404T>C (p.Ile135Thr) c.*582T>C (n.*582T>C) c.419T>C (p.Ile140Thr) | gnomAD v4 |
| 1 | g.22661043T>G | CA338947337 | C1QB | c.413T>G (p.Ile138Ser) c.439T>G (p.Ser147Ala) c.520T>G (p.Ser174Ala) c.491T>G (p.Ile164Ser) c.478T>G (p.Ser160Ala) c.404T>G (p.Ile135Ser) c.*582T>G (n.*582T>G) c.419T>G (p.Ile140Ser) | |
| 1 | g.22661044C>A | CA678160 | C1QB | c.414C>A (p.Ile138=) c.440C>A (p.Ser147Tyr) c.521C>A (p.Ser174Tyr) c.492C>A (p.Ile164=) c.479C>A (p.Ser160Tyr) c.405C>A (p.Ile135=) c.*583C>A (n.*583C>A) c.420C>A (p.Ile140=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.22661044C= | CA1158487008 | C1QB | c.414C= (p.Ile138=) c.440C= (p.Ser147=) c.521C= (p.Ser174=) c.492C= (p.Ile164=) c.479C= (p.Ser160=) c.405C= (p.Ile135=) c.*583C= (n.*583C=) c.420C= (p.Ile140=) | |
| 1 | g.22661044C>G | CA338947338 | C1QB | c.414C>G (p.Ile138Met) c.440C>G (p.Ser147Cys) c.521C>G (p.Ser174Cys) c.492C>G (p.Ile164Met) c.479C>G (p.Ser160Cys) c.405C>G (p.Ile135Met) c.*583C>G (n.*583C>G) c.420C>G (p.Ile140Met) | |
| 1 | g.22661044C>T | CA416684375 | C1QB | c.414C>T (p.Ile138=) c.440C>T (p.Ser147Phe) c.521C>T (p.Ser174Phe) c.492C>T (p.Ile164=) c.479C>T (p.Ser160Phe) c.405C>T (p.Ile135=) c.*583C>T (n.*583C>T) c.420C>T (p.Ile140=) | |
| 1 | g.22661045C>A | CA338947339 | C1QB | c.415C>A (p.Arg139Ser) c.441C>A (p.Ser147=) c.522C>A (p.Ser174=) c.493C>A (p.Arg165Ser) c.480C>A (p.Ser160=) c.406C>A (p.Arg136Ser) c.*584C>A (n.*584C>A) c.421C>A (p.Arg141Ser) | |
| 1 | g.22661045C= | CA1158487009 | C1QB | c.415C= (p.Arg139=) c.441C= (p.Ser147=) c.522C= (p.Ser174=) c.493C= (p.Arg165=) c.480C= (p.Ser160=) c.406C= (p.Arg136=) c.*584C= (n.*584C=) c.421C= (p.Arg141=) | |
| 1 | g.22661045C>G | CA338947340 | C1QB | c.415C>G (p.Arg139Gly) c.441C>G (p.Ser147=) c.522C>G (p.Ser174=) c.493C>G (p.Arg165Gly) c.480C>G (p.Ser160=) c.406C>G (p.Arg136Gly) c.*584C>G (n.*584C>G) c.421C>G (p.Arg141Gly) | |
| 1 | g.22661045C>T | CA678161 | C1QB | c.415C>T (p.Arg139Cys) c.441C>T (p.Ser147=) c.522C>T (p.Ser174=) c.493C>T (p.Arg165Cys) c.480C>T (p.Ser160=) c.406C>T (p.Arg136Cys) c.*584C>T (n.*584C>T) c.421C>T (p.Arg141Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661046G>A | CA678162 | C1QB | c.416G>A (p.Arg139His) c.442G>A (p.Ala148Thr) c.523G>A (p.Ala175Thr) c.494G>A (p.Arg165His) c.481G>A (p.Ala161Thr) c.407G>A (p.Arg136His) c.*585G>A (n.*585G>A) c.422G>A (p.Arg141His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661046G>C | CA338947357 | C1QB | c.416G>C (p.Arg139Pro) c.442G>C (p.Ala148Pro) c.523G>C (p.Ala175Pro) c.494G>C (p.Arg165Pro) c.481G>C (p.Ala161Pro) c.407G>C (p.Arg136Pro) c.*585G>C (n.*585G>C) c.422G>C (p.Arg141Pro) | |
| 1 | g.22661046G= | CA1143837151 | C1QB | c.416G= (p.Arg139=) c.442G= (p.Ala148=) c.523G= (p.Ala175=) c.494G= (p.Arg165=) c.481G= (p.Ala161=) c.407G= (p.Arg136=) c.*585G= (n.*585G=) c.422G= (p.Arg141=) | |
| 1 | g.22661046G>T | CA338947345 | C1QB | c.416G>T (p.Arg139Leu) c.442G>T (p.Ala148Ser) c.523G>T (p.Ala175Ser) c.494G>T (p.Arg165Leu) c.481G>T (p.Ala161Ser) c.407G>T (p.Arg136Leu) c.*585G>T (n.*585G>T) c.422G>T (p.Arg141Leu) | |
| 1 | g.22661047C>A | CA416684378 | C1QB | c.417C>A (p.Arg139=) c.443C>A (p.Ala148Asp) c.524C>A (p.Ala175Asp) c.495C>A (p.Arg165=) c.482C>A (p.Ala161Asp) c.408C>A (p.Arg136=) c.*586C>A (n.*586C>A) c.423C>A (p.Arg141=) | |
| 1 | g.22661047C>G | CA416684380 | C1QB | c.417C>G (p.Arg139=) c.443C>G (p.Ala148Gly) c.524C>G (p.Ala175Gly) c.495C>G (p.Arg165=) c.482C>G (p.Ala161Gly) c.408C>G (p.Arg136=) c.*586C>G (n.*586C>G) c.423C>G (p.Arg141=) | |
| 1 | g.22661047C>T | CA416684379 | C1QB | c.417C>T (p.Arg139=) c.443C>T (p.Ala148Val) c.524C>T (p.Ala175Val) c.495C>T (p.Arg165=) c.482C>T (p.Ala161Val) c.408C>T (p.Arg136=) c.*586C>T (n.*586C>T) c.423C>T (p.Arg141=) | |
| 1 | g.22661048T>A | CA338947364 | C1QB | c.418T>A (p.Phe140Ile) c.444T>A (p.Ala148=) c.525T>A (p.Ala175=) c.496T>A (p.Phe166Ile) c.483T>A (p.Ala161=) c.409T>A (p.Phe137Ile) c.*587T>A (n.*587T>A) c.424T>A (p.Phe142Ile) | |
| 1 | g.22661048T>C | CA338947365 | C1QB | c.418T>C (p.Phe140Leu) c.444T>C (p.Ala148=) c.525T>C (p.Ala175=) c.496T>C (p.Phe166Leu) c.483T>C (p.Ala161=) c.409T>C (p.Phe137Leu) c.*587T>C (n.*587T>C) c.424T>C (p.Phe142Leu) | |
| 1 | g.22661048T>G | CA338947366 | C1QB | c.418T>G (p.Phe140Val) c.444T>G (p.Ala148=) c.525T>G (p.Ala175=) c.496T>G (p.Phe166Val) c.483T>G (p.Ala161=) c.409T>G (p.Phe137Val) c.*587T>G (n.*587T>G) c.424T>G (p.Phe142Val) | |
| 1 | g.22661049T>A | CA338947367 | C1QB | c.419T>A (p.Phe140Tyr) c.445T>A (p.Ser149Thr) c.526T>A (p.Ser176Thr) c.497T>A (p.Phe166Tyr) c.484T>A (p.Ser162Thr) c.410T>A (p.Phe137Tyr) c.*588T>A (n.*588T>A) c.425T>A (p.Phe142Tyr) | |
| 1 | g.22661049T>C | CA338947368 | C1QB | c.419T>C (p.Phe140Ser) c.445T>C (p.Ser149Pro) c.526T>C (p.Ser176Pro) c.497T>C (p.Phe166Ser) c.484T>C (p.Ser162Pro) c.410T>C (p.Phe137Ser) c.*588T>C (n.*588T>C) c.425T>C (p.Phe142Ser) | gnomAD v4 |
| 1 | g.22661049T>G | CA338947370 | C1QB | c.419T>G (p.Phe140Cys) c.445T>G (p.Ser149Ala) c.526T>G (p.Ser176Ala) c.497T>G (p.Phe166Cys) c.484T>G (p.Ser162Ala) c.410T>G (p.Phe137Cys) c.*588T>G (n.*588T>G) c.425T>G (p.Phe142Cys) | |
| 1 | g.22661050C>A | CA338947372 | C1QB | c.420C>A (p.Phe140Leu) c.446C>A (p.Ser149Ter) c.527C>A (p.Ser176Ter) c.498C>A (p.Phe166Leu) c.485C>A (p.Ser162Ter) c.411C>A (p.Phe137Leu) c.*589C>A (n.*589C>A) c.426C>A (p.Phe142Leu) | |
| 1 | g.22661050C= | CA1158487010 | C1QB | c.420C= (p.Phe140=) c.446C= (p.Ser149=) c.527C= (p.Ser176=) c.498C= (p.Phe166=) c.485C= (p.Ser162=) c.411C= (p.Phe137=) c.*589C= (n.*589C=) c.426C= (p.Phe142=) | |
| 1 | g.22661050C>G | CA338947373 | C1QB | c.420C>G (p.Phe140Leu) c.446C>G (p.Ser149Trp) c.527C>G (p.Ser176Trp) c.498C>G (p.Phe166Leu) c.485C>G (p.Ser162Trp) c.411C>G (p.Phe137Leu) c.*589C>G (n.*589C>G) c.426C>G (p.Phe142Leu) | |
| 1 | g.22661050C>T | CA678163 | C1QB | c.420C>T (p.Phe140=) c.446C>T (p.Ser149Leu) c.527C>T (p.Ser176Leu) c.498C>T (p.Phe166=) c.485C>T (p.Ser162Leu) c.411C>T (p.Phe137=) c.*589C>T (n.*589C>T) c.426C>T (p.Phe142=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661051G>A | CA678164 | C1QB | c.421G>A (p.Asp141Asn) c.447G>A (p.Ser149=) c.528G>A (p.Ser176=) c.499G>A (p.Asp167Asn) c.486G>A (p.Ser162=) c.412G>A (p.Asp138Asn) c.*590G>A (n.*590G>A) c.427G>A (p.Asp143Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661051G>C | CA338947384 | C1QB | c.421G>C (p.Asp141His) c.447G>C (p.Ser149=) c.528G>C (p.Ser176=) c.499G>C (p.Asp167His) c.486G>C (p.Ser162=) c.412G>C (p.Asp138His) c.*590G>C (n.*590G>C) c.427G>C (p.Asp143His) | |
| 1 | g.22661051G= | CA1148573465 | C1QB | c.421G= (p.Asp141=) c.447G= (p.Ser149=) c.528G= (p.Ser176=) c.499G= (p.Asp167=) c.486G= (p.Ser162=) c.412G= (p.Asp138=) c.*590G= (n.*590G=) c.427G= (p.Asp143=) | |
| 1 | g.22661051G>T | CA338947387 | C1QB | c.421G>T (p.Asp141Tyr) c.447G>T (p.Ser149=) c.528G>T (p.Ser176=) c.499G>T (p.Asp167Tyr) c.486G>T (p.Ser162=) c.412G>T (p.Asp138Tyr) c.*590G>T (n.*590G>T) c.427G>T (p.Asp143Tyr) | |
| 1 | g.22661052A>C | CA338947400 | C1QB | c.422A>C (p.Asp141Ala) c.448A>C (p.Thr150Pro) c.529A>C (p.Thr177Pro) c.500A>C (p.Asp167Ala) c.487A>C (p.Thr163Pro) c.413A>C (p.Asp138Ala) c.*591A>C (n.*591A>C) c.428A>C (p.Asp143Ala) | |
| 1 | g.22661052A>G | CA338947398 | C1QB | c.422A>G (p.Asp141Gly) c.448A>G (p.Thr150Ala) c.529A>G (p.Thr177Ala) c.500A>G (p.Asp167Gly) c.487A>G (p.Thr163Ala) c.413A>G (p.Asp138Gly) c.*591A>G (n.*591A>G) c.428A>G (p.Asp143Gly) | gnomAD v4 |
| 1 | g.22661052A>T | CA338947399 | C1QB | c.422A>T (p.Asp141Val) c.448A>T (p.Thr150Ser) c.529A>T (p.Thr177Ser) c.500A>T (p.Asp167Val) c.487A>T (p.Thr163Ser) c.413A>T (p.Asp138Val) c.*591A>T (n.*591A>T) c.428A>T (p.Asp143Val) | |
| 1 | g.22661053C>A | CA338947402 | C1QB | c.423C>A (p.Asp141Glu) c.449C>A (p.Thr150Asn) c.530C>A (p.Thr177Asn) c.501C>A (p.Asp167Glu) c.488C>A (p.Thr163Asn) c.414C>A (p.Asp138Glu) c.*592C>A (n.*592C>A) c.429C>A (p.Asp143Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.22661053C= | CA1158487011 | C1QB | c.423C= (p.Asp141=) c.449C= (p.Thr150=) c.530C= (p.Thr177=) c.501C= (p.Asp167=) c.488C= (p.Thr163=) c.414C= (p.Asp138=) c.*592C= (n.*592C=) c.429C= (p.Asp143=) | |
| 1 | g.22661053C>G | CA338947410 | C1QB | c.423C>G (p.Asp141Glu) c.449C>G (p.Thr150Ser) c.530C>G (p.Thr177Ser) c.501C>G (p.Asp167Glu) c.488C>G (p.Thr163Ser) c.414C>G (p.Asp138Glu) c.*592C>G (n.*592C>G) c.429C>G (p.Asp143Glu) | |
| 1 | g.22661053C>T | CA416684387 | C1QB | c.423C>T (p.Asp141=) c.449C>T (p.Thr150Ile) c.530C>T (p.Thr177Ile) c.501C>T (p.Asp167=) c.488C>T (p.Thr163Ile) c.414C>T (p.Asp138=) c.*592C>T (n.*592C>T) c.429C>T (p.Asp143=) | |
| 1 | g.22661054C>A | CA338947413 | C1QB | c.424C>A (p.His142Asn) c.450C>A (p.Thr150=) c.531C>A (p.Thr177=) c.502C>A (p.His168Asn) c.489C>A (p.Thr163=) c.415C>A (p.His139Asn) c.*593C>A (n.*593C>A) c.430C>A (p.His144Asn) | |
| 1 | g.22661054C>G | CA338947419 | C1QB | c.424C>G (p.His142Asp) c.450C>G (p.Thr150=) c.531C>G (p.Thr177=) c.502C>G (p.His168Asp) c.489C>G (p.Thr163=) c.415C>G (p.His139Asp) c.*593C>G (n.*593C>G) c.430C>G (p.His144Asp) | |
| 1 | g.22661054C>T | CA338947415 | C1QB | c.424C>T (p.His142Tyr) c.450C>T (p.Thr150=) c.531C>T (p.Thr177=) c.502C>T (p.His168Tyr) c.489C>T (p.Thr163=) c.415C>T (p.His139Tyr) c.*593C>T (n.*593C>T) c.430C>T (p.His144Tyr) | ClinVar |
| 1 | g.22661057_22661064del | CA2574259265 | C1QB | c.427_434del (p.Val143GlnfsTer7) c.453_*4del (n.[c.453_*4del;Ter152AsnextTer?]) c.534_*4del (n.[c.534_*4del;Ter179AsnextTer?]) c.505_512del (p.Val169GlnfsTer7) c.492_*4del (n.[c.492_*4del;Ter165AsnextTer?]) c.418_425del (p.Val140GlnfsTer7) c.*596_*603del (n.*596_*603del) c.433_440del (p.Val145GlnfsTer7) | |
| 1 | g.22661055A>C | CA338947422 | C1QB | c.425A>C (p.His142Pro) c.451A>C (p.Thr151Pro) c.532A>C (p.Thr178Pro) c.503A>C (p.His168Pro) c.490A>C (p.Thr164Pro) c.416A>C (p.His139Pro) c.*594A>C (n.*594A>C) c.431A>C (p.His144Pro) | |
| 1 | g.22661055A>G | CA338947428 | C1QB | c.425A>G (p.His142Arg) c.451A>G (p.Thr151Ala) c.532A>G (p.Thr178Ala) c.503A>G (p.His168Arg) c.490A>G (p.Thr164Ala) c.416A>G (p.His139Arg) c.*594A>G (n.*594A>G) c.431A>G (p.His144Arg) | |
| 1 | g.22661055A>T | CA338947425 | C1QB | c.425A>T (p.His142Leu) c.451A>T (p.Thr151Ser) c.532A>T (p.Thr178Ser) c.503A>T (p.His168Leu) c.490A>T (p.Thr164Ser) c.416A>T (p.His139Leu) c.*594A>T (n.*594A>T) c.431A>T (p.His144Leu) | |
| 1 | g.22661056C>A | CA338947431 | C1QB | c.426C>A (p.His142Gln) c.452C>A (p.Thr151Lys) c.533C>A (p.Thr178Lys) c.504C>A (p.His168Gln) c.491C>A (p.Thr164Lys) c.417C>A (p.His139Gln) c.*595C>A (n.*595C>A) c.432C>A (p.His144Gln) | |
| 1 | g.22661056C= | CA1144146385 | C1QB | c.426C= (p.His142=) c.452C= (p.Thr151=) c.533C= (p.Thr178=) c.504C= (p.His168=) c.491C= (p.Thr164=) c.417C= (p.His139=) c.*595C= (n.*595C=) c.432C= (p.His144=) | |
| 1 | g.22661056C>G | CA678166 | C1QB | c.426C>G (p.His142Gln) c.452C>G (p.Thr151Arg) c.533C>G (p.Thr178Arg) c.504C>G (p.His168Gln) c.491C>G (p.Thr164Arg) c.417C>G (p.His139Gln) c.*595C>G (n.*595C>G) c.432C>G (p.His144Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.22661056C>T | CA678165 | C1QB | c.426C>T (p.His142=) c.452C>T (p.Thr151Met) c.533C>T (p.Thr178Met) c.504C>T (p.His168=) c.491C>T (p.Thr164Met) c.417C>T (p.His139=) c.*595C>T (n.*595C>T) c.432C>T (p.His144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.22661057G>A | CA678167 | C1QB | c.427G>A (p.Val143Met) c.453G>A (p.Thr151=) c.534G>A (p.Thr178=) c.505G>A (p.Val169Met) c.492G>A (p.Thr164=) c.418G>A (p.Val140Met) c.*596G>A (n.*596G>A) c.433G>A (p.Val145Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661057G>C | CA338947443 | C1QB | c.427G>C (p.Val143Leu) c.453G>C (p.Thr151=) c.534G>C (p.Thr178=) c.505G>C (p.Val169Leu) c.492G>C (p.Thr164=) c.418G>C (p.Val140Leu) c.*596G>C (n.*596G>C) c.433G>C (p.Val145Leu) | |
| 1 | g.22661057G= | CA1149124441 | C1QB | c.427G= (p.Val143=) c.453G= (p.Thr151=) c.534G= (p.Thr178=) c.505G= (p.Val169=) c.492G= (p.Thr164=) c.418G= (p.Val140=) c.*596G= (n.*596G=) c.433G= (p.Val145=) | |
| 1 | g.22661057G>T | CA338947448 | C1QB | c.427G>T (p.Val143Leu) c.453G>T (p.Thr151=) c.534G>T (p.Thr178=) c.505G>T (p.Val169Leu) c.492G>T (p.Thr164=) c.418G>T (p.Val140Leu) c.*596G>T (n.*596G>T) c.433G>T (p.Val145Leu) | |
| 1 | g.22661058T>A | CA338947452 | C1QB | c.428T>A (p.Val143Glu) c.454T>A (p.Ter152Arg) c.535T>A (p.Ter179Arg) c.506T>A (p.Val169Glu) c.493T>A (p.Ter165Arg) c.419T>A (p.Val140Glu) c.*597T>A (n.*597T>A) c.434T>A (p.Val145Glu) | |
| 1 | g.22661058T>C | CA338947454 | C1QB | c.428T>C (p.Val143Ala) c.454T>C (p.Ter152Arg) c.535T>C (p.Ter179Arg) c.506T>C (p.Val169Ala) c.493T>C (p.Ter165Arg) c.419T>C (p.Val140Ala) c.*597T>C (n.*597T>C) c.434T>C (p.Val145Ala) | gnomAD v4 |
| 1 | g.22661058T>G | CA338947457 | C1QB | c.428T>G (p.Val143Gly) c.454T>G (p.Ter152Gly) c.535T>G (p.Ter179Gly) c.506T>G (p.Val169Gly) c.493T>G (p.Ter165Gly) c.419T>G (p.Val140Gly) c.*597T>G (n.*597T>G) c.434T>G (p.Val145Gly) | gnomAD v4 |
| 1 | g.22661059G>A | CA416684403 | C1QB | c.429G>A (p.Val143=) c.455G>A (p.Ter152=) c.536G>A (p.Ter179=) c.507G>A (p.Val169=) c.494G>A (p.Ter165=) c.420G>A (p.Val140=) c.*598G>A (n.*598G>A) c.435G>A (p.Val145=) | |
| 1 | g.22661059G>C | CA416684406 | C1QB | c.429G>C (p.Val143=) c.455G>C (p.Ter152Ser) c.536G>C (p.Ter179Ser) c.507G>C (p.Val169=) c.494G>C (p.Ter165Ser) c.420G>C (p.Val140=) c.*598G>C (n.*598G>C) c.435G>C (p.Val145=) | |
| 1 | g.22661059G>T | CA416684405 | C1QB | c.429G>T (p.Val143=) c.455G>T (p.Ter152Leu) c.536G>T (p.Ter179Leu) c.507G>T (p.Val169=) c.494G>T (p.Ter165Leu) c.420G>T (p.Val140=) c.*598G>T (n.*598G>T) c.435G>T (p.Val145=) | |
| 1 | g.22661060A>C | CA338947466 | C1QB | c.430A>C (p.Ile144Leu) c.456A>C (p.Ter152Cys) c.537A>C (p.Ter179Cys) c.508A>C (p.Ile170Leu) c.495A>C (p.Ter165Cys) c.421A>C (p.Ile141Leu) c.*599A>C (n.*599A>C) c.436A>C (p.Ile146Leu) | |
| 1 | g.22661060A>G | CA338947464 | C1QB | c.430A>G (p.Ile144Val) c.456A>G (p.Ter152Trp) c.537A>G (p.Ter179Trp) c.508A>G (p.Ile170Val) c.495A>G (p.Ter165Trp) c.421A>G (p.Ile141Val) c.*599A>G (n.*599A>G) c.436A>G (p.Ile146Val) | gnomAD v4 |
| 1 | g.22661060A>T | CA338947463 | C1QB | c.430A>T (p.Ile144Phe) c.456A>T (p.Ter152Cys) c.537A>T (p.Ter179Cys) c.508A>T (p.Ile170Phe) c.495A>T (p.Ter165Cys) c.421A>T (p.Ile141Phe) c.*599A>T (n.*599A>T) c.436A>T (p.Ile146Phe) | |
| 1 | g.22661061T>A | CA338947469 | C1QB | c.431T>A (p.Ile144Asn) c.*1T>A (n.*1T>A) c.509T>A (p.Ile170Asn) c.422T>A (p.Ile141Asn) c.*600T>A (n.*600T>A) c.437T>A (p.Ile146Asn) | |
| 1 | g.22661061T>C | CA338947472 | C1QB | c.431T>C (p.Ile144Thr) c.*1T>C (n.*1T>C) c.509T>C (p.Ile170Thr) c.422T>C (p.Ile141Thr) c.*600T>C (n.*600T>C) c.437T>C (p.Ile146Thr) | |
| 1 | g.22661061T>G | CA338947475 | C1QB | c.431T>G (p.Ile144Ser) c.*1T>G (n.*1T>G) c.509T>G (p.Ile170Ser) c.422T>G (p.Ile141Ser) c.*600T>G (n.*600T>G) c.437T>G (p.Ile146Ser) | |
| 1 | g.22661062C>A | CA416684412 | C1QB | c.432C>A (p.Ile144=) c.*2C>A (n.*2C>A) c.510C>A (p.Ile170=) c.423C>A (p.Ile141=) c.*601C>A (n.*601C>A) c.438C>A (p.Ile146=) | |
| 1 | g.22661062C>G | CA338947479 | C1QB | c.432C>G (p.Ile144Met) c.*2C>G (n.*2C>G) c.510C>G (p.Ile170Met) c.423C>G (p.Ile141Met) c.*601C>G (n.*601C>G) c.438C>G (p.Ile146Met) | |
| 1 | g.22661062C>T | CA416684411 | C1QB | c.432C>T (p.Ile144=) c.*2C>T (n.*2C>T) c.510C>T (p.Ile170=) c.423C>T (p.Ile141=) c.*601C>T (n.*601C>T) c.438C>T (p.Ile146=) | |
| 1 | g.22661063A>C | CA338947490 | C1QB | c.433A>C (p.Thr145Pro) c.*3A>C (n.*3A>C) c.511A>C (p.Thr171Pro) c.424A>C (p.Thr142Pro) c.*602A>C (n.*602A>C) c.439A>C (p.Thr147Pro) | |
| 1 | g.22661063A>G | CA338947506 | C1QB | c.433A>G (p.Thr145Ala) c.*3A>G (n.*3A>G) c.511A>G (p.Thr171Ala) c.424A>G (p.Thr142Ala) c.*602A>G (n.*602A>G) c.439A>G (p.Thr147Ala) | |
| 1 | g.22661063A>T | CA338947510 | C1QB | c.433A>T (p.Thr145Ser) c.*3A>T (n.*3A>T) c.511A>T (p.Thr171Ser) c.424A>T (p.Thr142Ser) c.*602A>T (n.*602A>T) c.439A>T (p.Thr147Ser) | |
| 1 | g.22661064C>A | CA19188205 | C1QB | c.434C>A (p.Thr145Asn) c.*4C>A (n.*4C>A) c.512C>A (p.Thr171Asn) c.425C>A (p.Thr142Asn) c.*603C>A (n.*603C>A) c.440C>A (p.Thr147Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.22661064C= | CA1143624714 | C1QB | c.434C= (p.Thr145=) c.*4C= (n.*4C=) c.512C= (p.Thr171=) c.425C= (p.Thr142=) c.*603C= (n.*603C=) c.440C= (p.Thr147=) | |
| 1 | g.22661064C>G | CA338947518 | C1QB | c.434C>G (p.Thr145Ser) c.*4C>G (n.*4C>G) c.512C>G (p.Thr171Ser) c.425C>G (p.Thr142Ser) c.*603C>G (n.*603C>G) c.440C>G (p.Thr147Ser) | |
| 1 | g.22661064C>T | CA338947519 | C1QB | c.434C>T (p.Thr145Ile) c.*4C>T (n.*4C>T) c.512C>T (p.Thr171Ile) c.425C>T (p.Thr142Ile) c.*603C>T (n.*603C>T) c.440C>T (p.Thr147Ile) | dbSNP gnomAD v4 |
| 1 | g.22661065C>A | CA416684418 | C1QB | c.435C>A (p.Thr145=) c.*5C>A (n.*5C>A) c.513C>A (p.Thr171=) c.426C>A (p.Thr142=) c.*604C>A (n.*604C>A) c.441C>A (p.Thr147=) | |
| 1 | g.22661065C= | CA1144458269 | C1QB | c.435C= (p.Thr145=) c.*5C= (n.*5C=) c.513C= (p.Thr171=) c.426C= (p.Thr142=) c.*604C= (n.*604C=) c.441C= (p.Thr147=) | |
| 1 | g.22661065C>G | CA416684419 | C1QB | c.435C>G (p.Thr145=) c.*5C>G (n.*5C>G) c.513C>G (p.Thr171=) c.426C>G (p.Thr142=) c.*604C>G (n.*604C>G) c.441C>G (p.Thr147=) | |
| 1 | g.22661065C>T | CA678168 | C1QB | c.435C>T (p.Thr145=) c.*5C>T (n.*5C>T) c.513C>T (p.Thr171=) c.426C>T (p.Thr142=) c.*604C>T (n.*604C>T) c.441C>T (p.Thr147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.22661066A>C | CA338947524 | C1QB | c.436A>C (p.Asn146His) c.*6A>C (n.*6A>C) c.514A>C (p.Asn172His) c.427A>C (p.Asn143His) c.*605A>C (n.*605A>C) c.442A>C (p.Asn148His) | |
| 1 | g.22661066A>G | CA338947526 | C1QB | c.436A>G (p.Asn146Asp) c.*6A>G (n.*6A>G) c.514A>G (p.Asn172Asp) c.427A>G (p.Asn143Asp) c.*605A>G (n.*605A>G) c.442A>G (p.Asn148Asp) | |
| 1 | g.22661066A>T | CA338947520 | C1QB | c.436A>T (p.Asn146Tyr) c.*6A>T (n.*6A>T) c.514A>T (p.Asn172Tyr) c.427A>T (p.Asn143Tyr) c.*605A>T (n.*605A>T) c.442A>T (p.Asn148Tyr) | |
| 1 | g.22661067A= | CA1158487012 | C1QB | c.437A= (p.Asn146=) c.*7A= (n.*7A=) c.515A= (p.Asn172=) c.428A= (p.Asn143=) c.*606A= (n.*606A=) c.443A= (p.Asn148=) | |
| 1 | g.22661067A>C | CA338947530 | C1QB | c.437A>C (p.Asn146Thr) c.*7A>C (n.*7A>C) c.515A>C (p.Asn172Thr) c.428A>C (p.Asn143Thr) c.*606A>C (n.*606A>C) c.443A>C (p.Asn148Thr) | |
| 1 | g.22661067A>G | CA338947542 | C1QB | c.437A>G (p.Asn146Ser) c.*7A>G (n.*7A>G) c.515A>G (p.Asn172Ser) c.428A>G (p.Asn143Ser) c.*606A>G (n.*606A>G) c.443A>G (p.Asn148Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22661067A>T | CA19188214 | C1QB | c.437A>T (p.Asn146Ile) c.*7A>T (n.*7A>T) c.515A>T (p.Asn172Ile) c.428A>T (p.Asn143Ile) c.*606A>T (n.*606A>T) c.443A>T (p.Asn148Ile) | dbSNP |
| 1 | g.22661068C>A | CA338947553 | C1QB | c.438C>A (p.Asn146Lys) c.*8C>A (n.*8C>A) c.516C>A (p.Asn172Lys) c.429C>A (p.Asn143Lys) c.*607C>A (n.*607C>A) c.444C>A (p.Asn148Lys) | |
| 1 | g.22661068C>G | CA338947557 | C1QB | c.438C>G (p.Asn146Lys) c.*8C>G (n.*8C>G) c.516C>G (p.Asn172Lys) c.429C>G (p.Asn143Lys) c.*607C>G (n.*607C>G) c.444C>G (p.Asn148Lys) | |
| 1 | g.22661068C>T | CA416684421 | C1QB | c.438C>T (p.Asn146=) c.*8C>T (n.*8C>T) c.516C>T (p.Asn172=) c.429C>T (p.Asn143=) c.*607C>T (n.*607C>T) c.444C>T (p.Asn148=) | gnomAD v4 |
| 1 | g.22661069A= | CA1158487013 | C1QB | c.439A= (p.Met147=) c.*9A= (n.*9A=) c.517A= (p.Met173=) c.430A= (p.Met144=) c.*608A= (n.*608A=) c.445A= (p.Met149=) | |
| 1 | g.22661069A>C | CA338947567 | C1QB | c.439A>C (p.Met147Leu) c.*9A>C (n.*9A>C) c.517A>C (p.Met173Leu) c.430A>C (p.Met144Leu) c.*608A>C (n.*608A>C) c.445A>C (p.Met149Leu) | |
| 1 | g.22661069A>G | CA338947574 | C1QB | c.439A>G (p.Met147Val) c.*9A>G (n.*9A>G) c.517A>G (p.Met173Val) c.430A>G (p.Met144Val) c.*608A>G (n.*608A>G) c.445A>G (p.Met149Val) | |
| 1 | g.22661069A>T | CA338947577 | C1QB | c.439A>T (p.Met147Leu) c.*9A>T (n.*9A>T) c.517A>T (p.Met173Leu) c.430A>T (p.Met144Leu) c.*608A>T (n.*608A>T) c.445A>T (p.Met149Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22661070T>A | CA338947580 | C1QB | c.440T>A (p.Met147Lys) c.*10T>A (n.*10T>A) c.518T>A (p.Met173Lys) c.431T>A (p.Met144Lys) c.*609T>A (n.*609T>A) c.446T>A (p.Met149Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22661070T>C | CA678169 | C1QB | c.440T>C (p.Met147Thr) c.*10T>C (n.*10T>C) c.518T>C (p.Met173Thr) c.431T>C (p.Met144Thr) c.*609T>C (n.*609T>C) c.446T>C (p.Met149Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661070T>G | CA338947594 | C1QB | c.440T>G (p.Met147Arg) c.*10T>G (n.*10T>G) c.518T>G (p.Met173Arg) c.431T>G (p.Met144Arg) c.*609T>G (n.*609T>G) c.446T>G (p.Met149Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22661070T= | CA1143814409 | C1QB | c.440T= (p.Met147=) c.*10T= (n.*10T=) c.518T= (p.Met173=) c.431T= (p.Met144=) c.*609T= (n.*609T=) c.446T= (p.Met149=) | |
| 1 | g.22661071G>A | CA338947598 | C1QB | c.441G>A (p.Met147Ile) c.*11G>A (n.*11G>A) c.519G>A (p.Met173Ile) c.432G>A (p.Met144Ile) c.*610G>A (n.*610G>A) c.447G>A (p.Met149Ile) | |
| 1 | g.22661071G>C | CA338947601 | C1QB | c.441G>C (p.Met147Ile) c.*11G>C (n.*11G>C) c.519G>C (p.Met173Ile) c.432G>C (p.Met144Ile) c.*610G>C (n.*610G>C) c.447G>C (p.Met149Ile) | gnomAD v4 |
| 1 | g.22661071G= | CA1158487014 | C1QB | c.441G= (p.Met147=) c.*11G= (n.*11G=) c.519G= (p.Met173=) c.432G= (p.Met144=) c.*610G= (n.*610G=) c.447G= (p.Met149=) | |
| 1 | g.22661071G>T | CA19188227 | C1QB | c.441G>T (p.Met147Ile) c.*11G>T (n.*11G>T) c.519G>T (p.Met173Ile) c.432G>T (p.Met144Ile) c.*610G>T (n.*610G>T) c.447G>T (p.Met149Ile) | dbSNP gnomAD v4 |
| 1 | g.22661072A>C | CA338947604 | C1QB | c.442A>C (p.Asn148His) c.*12A>C (n.*12A>C) c.520A>C (p.Asn174His) c.433A>C (p.Asn145His) c.*611A>C (n.*611A>C) c.448A>C (p.Asn150His) | |
| 1 | g.22661072A>G | CA338947611 | C1QB | c.442A>G (p.Asn148Asp) c.*12A>G (n.*12A>G) c.520A>G (p.Asn174Asp) c.433A>G (p.Asn145Asp) c.*611A>G (n.*611A>G) c.448A>G (p.Asn150Asp) | |
| 1 | g.22661072A>T | CA338947619 | C1QB | c.442A>T (p.Asn148Tyr) c.*12A>T (n.*12A>T) c.520A>T (p.Asn174Tyr) c.433A>T (p.Asn145Tyr) c.*611A>T (n.*611A>T) c.448A>T (p.Asn150Tyr) | |
| 1 | g.22661077_22661079del | CA2644011874 | C1QB | c.447_449del (p.Asn150del) c.*17_*19del (n.*17_*19del) c.525_527del (p.Asn176del) c.438_440del (p.Asn147del) c.*616_*618del (n.*616_*618del) c.453_455del (p.Asn152del) | gnomAD v4 |
| 1 | g.22661073A>C | CA338947623 | C1QB | c.443A>C (p.Asn148Thr) c.*13A>C (n.*13A>C) c.521A>C (p.Asn174Thr) c.434A>C (p.Asn145Thr) c.*612A>C (n.*612A>C) c.449A>C (p.Asn150Thr) | |
| 1 | g.22661073A>G | CA338947627 | C1QB | c.443A>G (p.Asn148Ser) c.*13A>G (n.*13A>G) c.521A>G (p.Asn174Ser) c.434A>G (p.Asn145Ser) c.*612A>G (n.*612A>G) c.449A>G (p.Asn150Ser) | gnomAD v4 |
| 1 | g.22661073A>T | CA338947632 | C1QB | c.443A>T (p.Asn148Ile) c.*13A>T (n.*13A>T) c.521A>T (p.Asn174Ile) c.434A>T (p.Asn145Ile) c.*612A>T (n.*612A>T) c.449A>T (p.Asn150Ile) | |
| 1 | g.22661074C>A | CA338947639 | C1QB | c.444C>A (p.Asn148Lys) c.*14C>A (n.*14C>A) c.522C>A (p.Asn174Lys) c.435C>A (p.Asn145Lys) c.*613C>A (n.*613C>A) c.450C>A (p.Asn150Lys) | |
| 1 | g.22661074C>G | CA338947643 | C1QB | c.444C>G (p.Asn148Lys) c.*14C>G (n.*14C>G) c.522C>G (p.Asn174Lys) c.435C>G (p.Asn145Lys) c.*613C>G (n.*613C>G) c.450C>G (p.Asn150Lys) | |
| 1 | g.22661074C>T | CA416684426 | C1QB | c.444C>T (p.Asn148=) c.*14C>T (n.*14C>T) c.522C>T (p.Asn174=) c.435C>T (p.Asn145=) c.*613C>T (n.*613C>T) c.450C>T (p.Asn150=) | |
| 1 | g.22661075A>C | CA338947644 | C1QB | c.445A>C (p.Asn149His) c.*15A>C (n.*15A>C) c.523A>C (p.Asn175His) c.436A>C (p.Asn146His) c.*614A>C (n.*614A>C) c.451A>C (p.Asn151His) | |
| 1 | g.22661075A>G | CA338947645 | C1QB | c.445A>G (p.Asn149Asp) c.*15A>G (n.*15A>G) c.523A>G (p.Asn175Asp) c.436A>G (p.Asn146Asp) c.*614A>G (n.*614A>G) c.451A>G (p.Asn151Asp) | |
| 1 | g.22661075A>T | CA338947647 | C1QB | c.445A>T (p.Asn149Tyr) c.*15A>T (n.*15A>T) c.523A>T (p.Asn175Tyr) c.436A>T (p.Asn146Tyr) c.*614A>T (n.*614A>T) c.451A>T (p.Asn151Tyr) | |
| 1 | g.22661076A>C | CA338947653 | C1QB | c.446A>C (p.Asn149Thr) c.*16A>C (n.*16A>C) c.524A>C (p.Asn175Thr) c.437A>C (p.Asn146Thr) c.*615A>C (n.*615A>C) c.452A>C (p.Asn151Thr) | gnomAD v4 |
| 1 | g.22661076A>G | CA338947656 | C1QB | c.446A>G (p.Asn149Ser) c.*16A>G (n.*16A>G) c.524A>G (p.Asn175Ser) c.437A>G (p.Asn146Ser) c.*615A>G (n.*615A>G) c.452A>G (p.Asn151Ser) | |
| 1 | g.22661076A>T | CA338947659 | C1QB | c.446A>T (p.Asn149Ile) c.*16A>T (n.*16A>T) c.524A>T (p.Asn175Ile) c.437A>T (p.Asn146Ile) c.*615A>T (n.*615A>T) c.452A>T (p.Asn151Ile) | |
| 1 | g.22661077C>A | CA338947667 | C1QB | c.447C>A (p.Asn149Lys) c.*17C>A (n.*17C>A) c.525C>A (p.Asn175Lys) c.438C>A (p.Asn146Lys) c.*616C>A (n.*616C>A) c.453C>A (p.Asn151Lys) | |
| 1 | g.22661077C= | CA1158487015 | C1QB | c.447C= (p.Asn149=) c.*17C= (n.*17C=) c.525C= (p.Asn175=) c.438C= (p.Asn146=) c.*616C= (n.*616C=) c.453C= (p.Asn151=) | |
| 1 | g.22661077C>G | CA338947665 | C1QB | c.447C>G (p.Asn149Lys) c.*17C>G (n.*17C>G) c.525C>G (p.Asn175Lys) c.438C>G (p.Asn146Lys) c.*616C>G (n.*616C>G) c.453C>G (p.Asn151Lys) | |
| 1 | g.22661077C>T | CA416684429 | C1QB | c.447C>T (p.Asn149=) c.*17C>T (n.*17C>T) c.525C>T (p.Asn175=) c.438C>T (p.Asn146=) c.*616C>T (n.*616C>T) c.453C>T (p.Asn151=) | dbSNP |
| 1 | g.22661078A>C | CA338947671 | C1QB | c.448A>C (p.Asn150His) c.*18A>C (n.*18A>C) c.526A>C (p.Asn176His) c.439A>C (p.Asn147His) c.*617A>C (n.*617A>C) c.454A>C (p.Asn152His) | |
| 1 | g.22661078A>G | CA338947674 | C1QB | c.448A>G (p.Asn150Asp) c.*18A>G (n.*18A>G) c.526A>G (p.Asn176Asp) c.439A>G (p.Asn147Asp) c.*617A>G (n.*617A>G) c.454A>G (p.Asn152Asp) | |
| 1 | g.22661078A>T | CA338947675 | C1QB | c.448A>T (p.Asn150Tyr) c.*18A>T (n.*18A>T) c.526A>T (p.Asn176Tyr) c.439A>T (p.Asn147Tyr) c.*617A>T (n.*617A>T) c.454A>T (p.Asn152Tyr) | |
| 1 | g.22661079A= | CA1158487016 | C1QB | c.449A= (p.Asn150=) c.*19A= (n.*19A=) c.527A= (p.Asn176=) c.440A= (p.Asn147=) c.*618A= (n.*618A=) c.455A= (p.Asn152=) | |
| 1 | g.22661079A>C | CA338947678 | C1QB | c.449A>C (p.Asn150Thr) c.*19A>C (n.*19A>C) c.527A>C (p.Asn176Thr) c.440A>C (p.Asn147Thr) c.*618A>C (n.*618A>C) c.455A>C (p.Asn152Thr) | |
| 1 | g.22661079A>G | CA338947685 | C1QB | c.449A>G (p.Asn150Ser) c.*19A>G (n.*19A>G) c.527A>G (p.Asn176Ser) c.440A>G (p.Asn147Ser) c.*618A>G (n.*618A>G) c.455A>G (p.Asn152Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22661079A>T | CA338947689 | C1QB | c.449A>T (p.Asn150Ile) c.*19A>T (n.*19A>T) c.527A>T (p.Asn176Ile) c.440A>T (p.Asn147Ile) c.*618A>T (n.*618A>T) c.455A>T (p.Asn152Ile) | gnomAD v4 |
| 1 | g.22661080T>A | CA338947692 | C1QB | c.450T>A (p.Asn150Lys) c.*20T>A (n.*20T>A) c.528T>A (p.Asn176Lys) c.441T>A (p.Asn147Lys) c.*619T>A (n.*619T>A) c.456T>A (p.Asn152Lys) | gnomAD v4 |
| 1 | g.22661080T>C | CA416684441 | C1QB | c.450T>C (p.Asn150=) c.*20T>C (n.*20T>C) c.528T>C (p.Asn176=) c.441T>C (p.Asn147=) c.*619T>C (n.*619T>C) c.456T>C (p.Asn152=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22661080T>G | CA338947703 | C1QB | c.450T>G (p.Asn150Lys) c.*20T>G (n.*20T>G) c.528T>G (p.Asn176Lys) c.441T>G (p.Asn147Lys) c.*619T>G (n.*619T>G) c.456T>G (p.Asn152Lys) | |
| 1 | g.22661080T= | CA1158487017 | C1QB | c.450T= (p.Asn150=) c.*20T= (n.*20T=) c.528T= (p.Asn176=) c.441T= (p.Asn147=) c.*619T= (n.*619T=) c.456T= (p.Asn152=) | |
| 1 | g.22661081T>A | CA678170 | C1QB | c.451T>A (p.Tyr151Asn) c.*21T>A (n.*21T>A) c.529T>A (p.Tyr177Asn) c.442T>A (p.Tyr148Asn) c.*620T>A (n.*620T>A) c.457T>A (p.Tyr153Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.22661081T>C | CA338947714 | C1QB | c.451T>C (p.Tyr151His) c.*21T>C (n.*21T>C) c.529T>C (p.Tyr177His) c.442T>C (p.Tyr148His) c.*620T>C (n.*620T>C) c.457T>C (p.Tyr153His) | gnomAD v4 |
| 1 | g.22661081T>G | CA338947716 | C1QB | c.451T>G (p.Tyr151Asp) c.*21T>G (n.*21T>G) c.529T>G (p.Tyr177Asp) c.442T>G (p.Tyr148Asp) c.*620T>G (n.*620T>G) c.457T>G (p.Tyr153Asp) | |
| 1 | g.22661081T= | CA1144021931 | C1QB | c.451T= (p.Tyr151=) c.*21T= (n.*21T=) c.529T= (p.Tyr177=) c.442T= (p.Tyr148=) c.*620T= (n.*620T=) c.457T= (p.Tyr153=) | |
| 1 | g.22661082A>C | CA338947720 | C1QB | c.452A>C (p.Tyr151Ser) c.*22A>C (n.*22A>C) c.530A>C (p.Tyr177Ser) c.443A>C (p.Tyr148Ser) c.*621A>C (n.*621A>C) c.458A>C (p.Tyr153Ser) | |
| 1 | g.22661082A>G | CA338947722 | C1QB | c.452A>G (p.Tyr151Cys) c.*22A>G (n.*22A>G) c.530A>G (p.Tyr177Cys) c.443A>G (p.Tyr148Cys) c.*621A>G (n.*621A>G) c.458A>G (p.Tyr153Cys) | |
| 1 | g.22661082A>T | CA338947725 | C1QB | c.452A>T (p.Tyr151Phe) c.*22A>T (n.*22A>T) c.530A>T (p.Tyr177Phe) c.443A>T (p.Tyr148Phe) c.*621A>T (n.*621A>T) c.458A>T (p.Tyr153Phe) | COSMIC |
| 1 | g.22661083T>A | CA338947737 | C1QB | c.453T>A (p.Tyr151Ter) c.*23T>A (n.*23T>A) c.531T>A (p.Tyr177Ter) c.444T>A (p.Tyr148Ter) c.*622T>A (n.*622T>A) c.459T>A (p.Tyr153Ter) | |
| 1 | g.22661083T>C | CA416684446 | C1QB | c.453T>C (p.Tyr151=) c.*23T>C (n.*23T>C) c.531T>C (p.Tyr177=) c.444T>C (p.Tyr148=) c.*622T>C (n.*622T>C) c.459T>C (p.Tyr153=) | dbSNP |
| 1 | g.22661083T>G | CA338947729 | C1QB | c.453T>G (p.Tyr151Ter) c.*23T>G (n.*23T>G) c.531T>G (p.Tyr177Ter) c.444T>G (p.Tyr148Ter) c.*622T>G (n.*622T>G) c.459T>G (p.Tyr153Ter) | |
| 1 | g.22661083T= | CA1158487018 | C1QB | c.453T= (p.Tyr151=) c.*23T= (n.*23T=) c.531T= (p.Tyr177=) c.444T= (p.Tyr148=) c.*622T= (n.*622T=) c.459T= (p.Tyr153=) | |
| 1 | g.22661084G>A | CA338947739 | C1QB | c.454G>A (p.Glu152Lys) c.*24G>A (n.*24G>A) c.532G>A (p.Glu178Lys) c.445G>A (p.Glu149Lys) c.*623G>A (n.*623G>A) c.460G>A (p.Glu154Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.22661084G>C | CA338947742 | C1QB | c.454G>C (p.Glu152Gln) c.*24G>C (n.*24G>C) c.532G>C (p.Glu178Gln) c.445G>C (p.Glu149Gln) c.*623G>C (n.*623G>C) c.460G>C (p.Glu154Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.22661084G= | CA1158487019 | C1QB | c.454G= (p.Glu152=) c.*24G= (n.*24G=) c.532G= (p.Glu178=) c.445G= (p.Glu149=) c.*623G= (n.*623G=) c.460G= (p.Glu154=) | |
| 1 | g.22661084G>T | CA338947744 | C1QB | c.454G>T (p.Glu152Ter) c.*24G>T (n.*24G>T) c.532G>T (p.Glu178Ter) c.445G>T (p.Glu149Ter) c.*623G>T (n.*623G>T) c.460G>T (p.Glu154Ter) | |
| 1 | g.22661085A>C | CA338947747 | C1QB | c.455A>C (p.Glu152Ala) c.*25A>C (n.*25A>C) c.533A>C (p.Glu178Ala) c.446A>C (p.Glu149Ala) c.*624A>C (n.*624A>C) c.461A>C (p.Glu154Ala) | |
| 1 | g.22661085A>G | CA338947752 | C1QB | c.455A>G (p.Glu152Gly) c.*25A>G (n.*25A>G) c.533A>G (p.Glu178Gly) c.446A>G (p.Glu149Gly) c.*624A>G (n.*624A>G) c.461A>G (p.Glu154Gly) | |
| 1 | g.22661085A>T | CA338947754 | C1QB | c.455A>T (p.Glu152Val) c.*25A>T (n.*25A>T) c.533A>T (p.Glu178Val) c.446A>T (p.Glu149Val) c.*624A>T (n.*624A>T) c.461A>T (p.Glu154Val) | |
| 1 | g.22661086G>A | CA416684451 | C1QB | c.456G>A (p.Glu152=) c.*26G>A (n.*26G>A) c.534G>A (p.Glu178=) c.447G>A (p.Glu149=) c.*625G>A (n.*625G>A) c.462G>A (p.Glu154=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.22661086G>C | CA338947758 | C1QB | c.456G>C (p.Glu152Asp) c.*26G>C (n.*26G>C) c.534G>C (p.Glu178Asp) c.447G>C (p.Glu149Asp) c.*625G>C (n.*625G>C) c.462G>C (p.Glu154Asp) | |
| 1 | g.22661086G= | CA1158487020 | C1QB | c.456G= (p.Glu152=) c.*26G= (n.*26G=) c.534G= (p.Glu178=) c.447G= (p.Glu149=) c.*625G= (n.*625G=) c.462G= (p.Glu154=) | |
| 1 | g.22661086G>T | CA338947757 | C1QB | c.456G>T (p.Glu152Asp) c.*26G>T (n.*26G>T) c.534G>T (p.Glu178Asp) c.447G>T (p.Glu149Asp) c.*625G>T (n.*625G>T) c.462G>T (p.Glu154Asp) | |
| 1 | g.22661087C>A | CA678171 | C1QB | c.457C>A (p.Pro153Thr) c.*27C>A (n.*27C>A) c.535C>A (p.Pro179Thr) c.448C>A (p.Pro150Thr) c.*626C>A (n.*626C>A) c.463C>A (p.Pro155Thr) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.22661087C= | CA1158487021 | C1QB | c.457C= (p.Pro153=) c.*27C= (n.*27C=) c.535C= (p.Pro179=) c.448C= (p.Pro150=) c.*626C= (n.*626C=) c.463C= (p.Pro155=) | |
| 1 | g.22661087C>G | CA338947768 | C1QB | c.457C>G (p.Pro153Ala) c.*27C>G (n.*27C>G) c.535C>G (p.Pro179Ala) c.448C>G (p.Pro150Ala) c.*626C>G (n.*626C>G) c.463C>G (p.Pro155Ala) | |
| 1 | g.22661087C>T | CA338947783 | C1QB | c.457C>T (p.Pro153Ser) c.*27C>T (n.*27C>T) c.535C>T (p.Pro179Ser) c.448C>T (p.Pro150Ser) c.*626C>T (n.*626C>T) c.463C>T (p.Pro155Ser) | gnomAD v4 |
| 1 | g.22661088_22661090del | CA2644011875 | C1QB | c.458_460del (p.Pro153del) c.*28_*30del (n.*28_*30del) c.536_538del (p.Pro179del) c.449_451del (p.Pro150del) c.*627_*629del (n.*627_*629del) c.464_466del (p.Pro155del) | gnomAD v4 |
| 1 | g.22661088C>A | CA338947788 | C1QB | c.458C>A (p.Pro153His) c.*28C>A (n.*28C>A) c.536C>A (p.Pro179His) c.449C>A (p.Pro150His) c.*627C>A (n.*627C>A) c.464C>A (p.Pro155His) | |
| 1 | g.22661088C= | CA1158487022 | C1QB | c.458C= (p.Pro153=) c.*28C= (n.*28C=) c.536C= (p.Pro179=) c.449C= (p.Pro150=) c.*627C= (n.*627C=) c.464C= (p.Pro155=) | |
| 1 | g.22661088C>G | CA338947791 | C1QB | c.458C>G (p.Pro153Arg) c.*28C>G (n.*28C>G) c.536C>G (p.Pro179Arg) c.449C>G (p.Pro150Arg) c.*627C>G (n.*627C>G) c.464C>G (p.Pro155Arg) | |
| 1 | g.22661088C>T | CA338947794 | C1QB | c.458C>T (p.Pro153Leu) c.*28C>T (n.*28C>T) c.536C>T (p.Pro179Leu) c.449C>T (p.Pro150Leu) c.*627C>T (n.*627C>T) c.464C>T (p.Pro155Leu) | dbSNP |
| 1 | g.22661089C>A | CA416684456 | C1QB | c.459C>A (p.Pro153=) c.*29C>A (n.*29C>A) c.537C>A (p.Pro179=) c.450C>A (p.Pro150=) c.*628C>A (n.*628C>A) c.465C>A (p.Pro155=) | |
| 1 | g.22661089C>G | CA416684457 | C1QB | c.459C>G (p.Pro153=) c.*29C>G (n.*29C>G) c.537C>G (p.Pro179=) c.450C>G (p.Pro150=) c.*628C>G (n.*628C>G) c.465C>G (p.Pro155=) | |
| 1 | g.22661089C>T | CA416684458 | C1QB | c.459C>T (p.Pro153=) c.*29C>T (n.*29C>T) c.537C>T (p.Pro179=) c.450C>T (p.Pro150=) c.*628C>T (n.*628C>T) c.465C>T (p.Pro155=) | COSMIC |
| 1 | g.22661090C>A | CA338947797 | C1QB | c.460C>A (p.Arg154Ser) c.*30C>A (n.*30C>A) c.538C>A (p.Arg180Ser) c.451C>A (p.Arg151Ser) c.*629C>A (n.*629C>A) c.466C>A (p.Arg156Ser) c.460C>A | |
| 1 | g.22661090C= | CA1158487023 | C1QB | c.460C= (p.Arg154=) c.*30C= (n.*30C=) c.538C= (p.Arg180=) c.451C= (p.Arg151=) c.*629C= (n.*629C=) c.466C= (p.Arg156=) c.460C= | |
| 1 | g.22661090C>G | CA338947800 | C1QB | c.460C>G (p.Arg154Gly) c.*30C>G (n.*30C>G) c.538C>G (p.Arg180Gly) c.451C>G (p.Arg151Gly) c.*629C>G (n.*629C>G) c.466C>G (p.Arg156Gly) c.460C>G | |
| 1 | g.22661090C>T | CA338947798 | C1QB | c.460C>T (p.Arg154Cys) c.*30C>T (n.*30C>T) c.538C>T (p.Arg180Cys) c.451C>T (p.Arg151Cys) c.*629C>T (n.*629C>T) c.466C>T (p.Arg156Cys) c.460C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661091G>A | CA338947803 | C1QB | c.461G>A (p.Arg154His) c.*31G>A (n.*31G>A) c.539G>A (p.Arg180His) c.452G>A (p.Arg151His) c.*630G>A (n.*630G>A) c.467G>A (p.Arg156His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.22661091G>C | CA338947807 | C1QB | c.461G>C (p.Arg154Pro) c.*31G>C (n.*31G>C) c.539G>C (p.Arg180Pro) c.452G>C (p.Arg151Pro) c.*630G>C (n.*630G>C) c.467G>C (p.Arg156Pro) | |
| 1 | g.22661091G= | CA1158487024 | C1QB | c.461G= (p.Arg154=) c.*31G= (n.*31G=) c.539G= (p.Arg180=) c.452G= (p.Arg151=) c.*630G= (n.*630G=) c.467G= (p.Arg156=) | |
| 1 | g.22661091G>T | CA338947811 | C1QB | c.461G>T (p.Arg154Leu) c.*31G>T (n.*31G>T) c.539G>T (p.Arg180Leu) c.452G>T (p.Arg151Leu) c.*630G>T (n.*630G>T) c.467G>T (p.Arg156Leu) | gnomAD v4 |
| 1 | g.22661092C>A | CA416684461 | C1QB | c.462C>A (p.Arg154=) c.*32C>A (n.*32C>A) c.540C>A (p.Arg180=) c.453C>A (p.Arg151=) c.*631C>A (n.*631C>A) c.468C>A (p.Arg156=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22661092C= | CA1158487025 | C1QB | c.462C= (p.Arg154=) c.*32C= (n.*32C=) c.540C= (p.Arg180=) c.453C= (p.Arg151=) c.*631C= (n.*631C=) c.468C= (p.Arg156=) | |
| 1 | g.22661092C>G | CA416684462 | C1QB | c.462C>G (p.Arg154=) c.*32C>G (n.*32C>G) c.540C>G (p.Arg180=) c.453C>G (p.Arg151=) c.*631C>G (n.*631C>G) c.468C>G (p.Arg156=) | |
| 1 | g.22661092C>T | CA416684463 | C1QB | c.462C>T (p.Arg154=) c.*32C>T (n.*32C>T) c.540C>T (p.Arg180=) c.453C>T (p.Arg151=) c.*631C>T (n.*631C>T) c.468C>T (p.Arg156=) | |
| 1 | g.22661093A= | CA1158487026 | C1QB | c.463A= (p.Ser155=) c.*33A= (n.*33A=) c.541A= (p.Ser181=) c.454A= (p.Ser152=) c.*632A= (n.*632A=) c.469A= (p.Ser157=) | |
| 1 | g.22661093A>C | CA338947816 | C1QB | c.463A>C (p.Ser155Arg) c.*33A>C (n.*33A>C) c.541A>C (p.Ser181Arg) c.454A>C (p.Ser152Arg) c.*632A>C (n.*632A>C) c.469A>C (p.Ser157Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.22661093A>G | CA338947818 | C1QB | c.463A>G (p.Ser155Gly) c.*33A>G (n.*33A>G) c.541A>G (p.Ser181Gly) c.454A>G (p.Ser152Gly) c.*632A>G (n.*632A>G) c.469A>G (p.Ser157Gly) | dbSNP gnomAD v2 |
| 1 | g.22661093A>T | CA338947834 | C1QB | c.463A>T (p.Ser155Cys) c.*33A>T (n.*33A>T) c.541A>T (p.Ser181Cys) c.454A>T (p.Ser152Cys) c.*632A>T (n.*632A>T) c.469A>T (p.Ser157Cys) | |
| 1 | g.22661094G>A | CA338947845 | C1QB | c.464G>A (p.Ser155Asn) c.*34G>A (n.*34G>A) c.542G>A (p.Ser181Asn) c.455G>A (p.Ser152Asn) c.*633G>A (n.*633G>A) c.470G>A (p.Ser157Asn) | gnomAD v4 |
| 1 | g.22661094G>C | CA338947840 | C1QB | c.464G>C (p.Ser155Thr) c.*34G>C (n.*34G>C) c.542G>C (p.Ser181Thr) c.455G>C (p.Ser152Thr) c.*633G>C (n.*633G>C) c.470G>C (p.Ser157Thr) | |
| 1 | g.22661094G>T | CA338947843 | C1QB | c.464G>T (p.Ser155Ile) c.*34G>T (n.*34G>T) c.542G>T (p.Ser181Ile) c.455G>T (p.Ser152Ile) c.*633G>T (n.*633G>T) c.470G>T (p.Ser157Ile) | |
| 1 | g.22661095T>A | CA338947848 | C1QB | c.465T>A (p.Ser155Arg) c.*35T>A (n.*35T>A) c.543T>A (p.Ser181Arg) c.456T>A (p.Ser152Arg) c.*634T>A (n.*634T>A) c.471T>A (p.Ser157Arg) | |
| 1 | g.22661095T>C | CA416684468 | C1QB | c.465T>C (p.Ser155=) c.*35T>C (n.*35T>C) c.543T>C (p.Ser181=) c.456T>C (p.Ser152=) c.*634T>C (n.*634T>C) c.471T>C (p.Ser157=) | dbSNP |
| 1 | g.22661095T>G | CA338947849 | C1QB | c.465T>G (p.Ser155Arg) c.*35T>G (n.*35T>G) c.543T>G (p.Ser181Arg) c.456T>G (p.Ser152Arg) c.*634T>G (n.*634T>G) c.471T>G (p.Ser157Arg) | |
| 1 | g.22661095T= | CA1158487027 | C1QB | c.465T= (p.Ser155=) c.*35T= (n.*35T=) c.543T= (p.Ser181=) c.456T= (p.Ser152=) c.*634T= (n.*634T=) c.471T= (p.Ser157=) | |
| 1 | g.22661096G>A | CA338947856 | C1QB | c.466G>A (p.Gly156Ser) c.*36G>A (n.*36G>A) c.544G>A (p.Gly182Ser) c.457G>A (p.Gly153Ser) c.*635G>A (n.*635G>A) c.472G>A (p.Gly158Ser) | gnomAD v4 |
| 1 | g.22661096G>C | CA338947857 | C1QB | c.466G>C (p.Gly156Arg) c.*36G>C (n.*36G>C) c.544G>C (p.Gly182Arg) c.457G>C (p.Gly153Arg) c.*635G>C (n.*635G>C) c.472G>C (p.Gly158Arg) | |
| 1 | g.22661096G>T | CA338947858 | C1QB | c.466G>T (p.Gly156Cys) c.*36G>T (n.*36G>T) c.544G>T (p.Gly182Cys) c.457G>T (p.Gly153Cys) c.*635G>T (n.*635G>T) c.472G>T (p.Gly158Cys) | |
| 1 | g.22661097G>A | CA338947859 | C1QB | c.467G>A (p.Gly156Asp) c.*37G>A (n.*37G>A) c.545G>A (p.Gly182Asp) c.458G>A (p.Gly153Asp) c.*636G>A (n.*636G>A) c.473G>A (p.Gly158Asp) | |
| 1 | g.22661097G>C | CA338947861 | C1QB | c.467G>C (p.Gly156Ala) c.*37G>C (n.*37G>C) c.545G>C (p.Gly182Ala) c.458G>C (p.Gly153Ala) c.*636G>C (n.*636G>C) c.473G>C (p.Gly158Ala) | |
| 1 | g.22661097G>T | CA338947860 | C1QB | c.467G>T (p.Gly156Val) c.*37G>T (n.*37G>T) c.545G>T (p.Gly182Val) c.458G>T (p.Gly153Val) c.*636G>T (n.*636G>T) c.473G>T (p.Gly158Val) | |
| 1 | g.22661098C>A | CA416684472 | C1QB | c.468C>A (p.Gly156=) c.*38C>A (n.*38C>A) c.546C>A (p.Gly182=) c.459C>A (p.Gly153=) c.*637C>A (n.*637C>A) c.474C>A (p.Gly158=) | |
| 1 | g.22661098C>G | CA416684473 | C1QB | c.468C>G (p.Gly156=) c.*38C>G (n.*38C>G) c.546C>G (p.Gly182=) c.459C>G (p.Gly153=) c.*637C>G (n.*637C>G) c.474C>G (p.Gly158=) | |
| 1 | g.22661098C>T | CA416684475 | C1QB | c.468C>T (p.Gly156=) c.*38C>T (n.*38C>T) c.546C>T (p.Gly182=) c.459C>T (p.Gly153=) c.*637C>T (n.*637C>T) c.474C>T (p.Gly158=) | |
| 1 | g.22661099A>C | CA338947862 | C1QB | c.469A>C (p.Lys157Gln) c.*39A>C (n.*39A>C) c.547A>C (p.Lys183Gln) c.460A>C (p.Lys154Gln) c.*638A>C (n.*638A>C) c.475A>C (p.Lys159Gln) | |
| 1 | g.22661099A>G | CA338947864 | C1QB | c.469A>G (p.Lys157Glu) c.*39A>G (n.*39A>G) c.547A>G (p.Lys183Glu) c.460A>G (p.Lys154Glu) c.*638A>G (n.*638A>G) c.475A>G (p.Lys159Glu) | |
| 1 | g.22661099A>T | CA338947867 | C1QB | c.469A>T (p.Lys157Ter) c.*39A>T (n.*39A>T) c.547A>T (p.Lys183Ter) c.460A>T (p.Lys154Ter) c.*638A>T (n.*638A>T) c.475A>T (p.Lys159Ter) | |
| 1 | g.22661100A>C | CA338947872 | C1QB | c.470A>C (p.Lys157Thr) c.*40A>C (n.*40A>C) c.548A>C (p.Lys183Thr) c.461A>C (p.Lys154Thr) c.*639A>C (n.*639A>C) c.476A>C (p.Lys159Thr) | |
| 1 | g.22661100A>G | CA338947873 | C1QB | c.470A>G (p.Lys157Arg) c.*40A>G (n.*40A>G) c.548A>G (p.Lys183Arg) c.461A>G (p.Lys154Arg) c.*639A>G (n.*639A>G) c.476A>G (p.Lys159Arg) | |
| 1 | g.22661100A>T | CA338947879 | C1QB | c.470A>T (p.Lys157Met) c.*40A>T (n.*40A>T) c.548A>T (p.Lys183Met) c.461A>T (p.Lys154Met) c.*639A>T (n.*639A>T) c.476A>T (p.Lys159Met) | |
| 1 | g.22661101G>A | CA416684481 | C1QB | c.471G>A (p.Lys157=) c.*41G>A (n.*41G>A) c.549G>A (p.Lys183=) c.462G>A (p.Lys154=) c.*640G>A (n.*640G>A) c.477G>A (p.Lys159=) | |
| 1 | g.22661101G>C | CA338947881 | C1QB | c.471G>C (p.Lys157Asn) c.*41G>C (n.*41G>C) c.549G>C (p.Lys183Asn) c.462G>C (p.Lys154Asn) c.*640G>C (n.*640G>C) c.477G>C (p.Lys159Asn) | |
| 1 | g.22661101G>T | CA338947885 | C1QB | c.471G>T (p.Lys157Asn) c.*41G>T (n.*41G>T) c.549G>T (p.Lys183Asn) c.462G>T (p.Lys154Asn) c.*640G>T (n.*640G>T) c.477G>T (p.Lys159Asn) | |
| 1 | g.22661102T>A | CA338947888 | C1QB | c.472T>A (p.Phe158Ile) c.*42T>A (n.*42T>A) c.550T>A (p.Phe184Ile) c.463T>A (p.Phe155Ile) c.*641T>A (n.*641T>A) c.478T>A (p.Phe160Ile) | |
| 1 | g.22661102T>C | CA338947890 | C1QB | c.472T>C (p.Phe158Leu) c.*42T>C (n.*42T>C) c.550T>C (p.Phe184Leu) c.463T>C (p.Phe155Leu) c.*641T>C (n.*641T>C) c.478T>C (p.Phe160Leu) | |
| 1 | g.22661102T>G | CA338947899 | C1QB | c.472T>G (p.Phe158Val) c.*42T>G (n.*42T>G) c.550T>G (p.Phe184Val) c.463T>G (p.Phe155Val) c.*641T>G (n.*641T>G) c.478T>G (p.Phe160Val) | |
| 1 | g.22661103T>A | CA338947913 | C1QB | c.473T>A (p.Phe158Tyr) c.*43T>A (n.*43T>A) c.551T>A (p.Phe184Tyr) c.464T>A (p.Phe155Tyr) c.*642T>A (n.*642T>A) c.479T>A (p.Phe160Tyr) | |
| 1 | g.22661103T>C | CA338947911 | C1QB | c.473T>C (p.Phe158Ser) c.*43T>C (n.*43T>C) c.551T>C (p.Phe184Ser) c.464T>C (p.Phe155Ser) c.*642T>C (n.*642T>C) c.479T>C (p.Phe160Ser) | |
| 1 | g.22661103T>G | CA338947901 | C1QB | c.473T>G (p.Phe158Cys) c.*43T>G (n.*43T>G) c.551T>G (p.Phe184Cys) c.464T>G (p.Phe155Cys) c.*642T>G (n.*642T>G) c.479T>G (p.Phe160Cys) | |
| 1 | g.22661104C>A | CA338947922 | C1QB | c.474C>A (p.Phe158Leu) c.*44C>A (n.*44C>A) c.552C>A (p.Phe184Leu) c.465C>A (p.Phe155Leu) c.*643C>A (n.*643C>A) c.480C>A (p.Phe160Leu) | |
| 1 | g.22661104C>G | CA338947915 | C1QB | c.474C>G (p.Phe158Leu) c.*44C>G (n.*44C>G) c.552C>G (p.Phe184Leu) c.465C>G (p.Phe155Leu) c.*643C>G (n.*643C>G) c.480C>G (p.Phe160Leu) | |
| 1 | g.22661104C>T | CA416684489 | C1QB | c.474C>T (p.Phe158=) c.*44C>T (n.*44C>T) c.552C>T (p.Phe184=) c.465C>T (p.Phe155=) c.*643C>T (n.*643C>T) c.480C>T (p.Phe160=) | |
| 1 | g.22661105A>C | CA338947929 | C1QB | c.475A>C (p.Thr159Pro) c.*45A>C (n.*45A>C) c.553A>C (p.Thr185Pro) c.466A>C (p.Thr156Pro) c.*644A>C (n.*644A>C) c.481A>C (p.Thr161Pro) | |
| 1 | g.22661105A>G | CA338947925 | C1QB | c.475A>G (p.Thr159Ala) c.*45A>G (n.*45A>G) c.553A>G (p.Thr185Ala) c.466A>G (p.Thr156Ala) c.*644A>G (n.*644A>G) c.481A>G (p.Thr161Ala) | |
| 1 | g.22661105A>T | CA338947931 | C1QB | c.475A>T (p.Thr159Ser) c.*45A>T (n.*45A>T) c.553A>T (p.Thr185Ser) c.466A>T (p.Thr156Ser) c.*644A>T (n.*644A>T) c.481A>T (p.Thr161Ser) | |
| 1 | g.22661106C>A | CA338947935 | C1QB | c.476C>A (p.Thr159Asn) c.*46C>A (n.*46C>A) c.554C>A (p.Thr185Asn) c.467C>A (p.Thr156Asn) c.*645C>A (n.*645C>A) c.482C>A (p.Thr161Asn) | |
| 1 | g.22661106C>G | CA338947940 | C1QB | c.476C>G (p.Thr159Ser) c.*46C>G (n.*46C>G) c.554C>G (p.Thr185Ser) c.467C>G (p.Thr156Ser) c.*645C>G (n.*645C>G) c.482C>G (p.Thr161Ser) | gnomAD v4 |
| 1 | g.22661106C>T | CA338947943 | C1QB | c.476C>T (p.Thr159Ile) c.*46C>T (n.*46C>T) c.554C>T (p.Thr185Ile) c.467C>T (p.Thr156Ile) c.*645C>T (n.*645C>T) c.482C>T (p.Thr161Ile) | gnomAD v4 |
| 1 | g.22661107C>A | CA416684493 | C1QB | c.477C>A (p.Thr159=) c.*47C>A (n.*47C>A) c.555C>A (p.Thr185=) c.468C>A (p.Thr156=) c.*646C>A (n.*646C>A) c.483C>A (p.Thr161=) | |
| 1 | g.22661107C>G | CA416684498 | C1QB | c.477C>G (p.Thr159=) c.*47C>G (n.*47C>G) c.555C>G (p.Thr185=) c.468C>G (p.Thr156=) c.*646C>G (n.*646C>G) c.483C>G (p.Thr161=) | |
| 1 | g.22661107C>T | CA416684495 | C1QB | c.477C>T (p.Thr159=) c.*47C>T (n.*47C>T) c.555C>T (p.Thr185=) c.468C>T (p.Thr156=) c.*646C>T (n.*646C>T) c.483C>T (p.Thr161=) | COSMIC |
| 1 | g.22661108T>A | CA338947945 | C1QB | c.478T>A (p.Cys160Ser) c.*48T>A (n.*48T>A) c.556T>A (p.Cys186Ser) c.469T>A (p.Cys157Ser) c.*647T>A (n.*647T>A) c.484T>A (p.Cys162Ser) | |
| 1 | g.22661108T>C | CA338947946 | C1QB | c.478T>C (p.Cys160Arg) c.*48T>C (n.*48T>C) c.556T>C (p.Cys186Arg) c.469T>C (p.Cys157Arg) c.*647T>C (n.*647T>C) c.484T>C (p.Cys162Arg) | |
| 1 | g.22661108T>G | CA338947951 | C1QB | c.478T>G (p.Cys160Gly) c.*48T>G (n.*48T>G) c.556T>G (p.Cys186Gly) c.469T>G (p.Cys157Gly) c.*647T>G (n.*647T>G) c.484T>G (p.Cys162Gly) | |
| 1 | g.22661109G>A | CA338947954 | C1QB | c.479G>A (p.Cys160Tyr) c.*49G>A (n.*49G>A) c.557G>A (p.Cys186Tyr) c.470G>A (p.Cys157Tyr) c.*648G>A (n.*648G>A) c.485G>A (p.Cys162Tyr) | |
| 1 | g.22661109G>C | CA338947956 | C1QB | c.479G>C (p.Cys160Ser) c.*49G>C (n.*49G>C) c.557G>C (p.Cys186Ser) c.470G>C (p.Cys157Ser) c.*648G>C (n.*648G>C) c.485G>C (p.Cys162Ser) | |
| 1 | g.22661109G>T | CA338947962 | C1QB | c.479G>T (p.Cys160Phe) c.*49G>T (n.*49G>T) c.557G>T (p.Cys186Phe) c.470G>T (p.Cys157Phe) c.*648G>T (n.*648G>T) c.485G>T (p.Cys162Phe) | |
| 1 | g.22661110C>A | CA338947966 | C1QB | c.480C>A (p.Cys160Ter) c.*50C>A (n.*50C>A) c.558C>A (p.Cys186Ter) c.471C>A (p.Cys157Ter) c.*649C>A (n.*649C>A) c.486C>A (p.Cys162Ter) | |
| 1 | g.22661110C= | CA1140264953 | C1QB | c.480C= (p.Cys160=) c.*50C= (n.*50C=) c.558C= (p.Cys186=) c.471C= (p.Cys157=) c.*649C= (n.*649C=) c.486C= (p.Cys162=) | |
| 1 | g.22661110C>G | CA19188235 | C1QB | c.480C>G (p.Cys160Trp) c.*50C>G (n.*50C>G) c.558C>G (p.Cys186Trp) c.471C>G (p.Cys157Trp) c.*649C>G (n.*649C>G) c.486C>G (p.Cys162Trp) | dbSNP |
| 1 | g.22661110C>T | CA416684501 | C1QB | c.480C>T (p.Cys160=) c.*50C>T (n.*50C>T) c.558C>T (p.Cys186=) c.471C>T (p.Cys157=) c.*649C>T (n.*649C>T) c.486C>T (p.Cys162=) | ClinVar |
| 1 | g.22661111A>C | CA338947974 | C1QB | c.481A>C (p.Lys161Gln) c.*51A>C (n.*51A>C) c.559A>C (p.Lys187Gln) c.472A>C (p.Lys158Gln) c.*650A>C (n.*650A>C) c.487A>C (p.Lys163Gln) | |
| 1 | g.22661111A>G | CA338947970 | C1QB | c.481A>G (p.Lys161Glu) c.*51A>G (n.*51A>G) c.559A>G (p.Lys187Glu) c.472A>G (p.Lys158Glu) c.*650A>G (n.*650A>G) c.487A>G (p.Lys163Glu) | |
| 1 | g.22661111A>T | CA338947973 | C1QB | c.481A>T (p.Lys161Ter) c.*51A>T (n.*51A>T) c.559A>T (p.Lys187Ter) c.472A>T (p.Lys158Ter) c.*650A>T (n.*650A>T) c.487A>T (p.Lys163Ter) | |
| 1 | g.22661112A>C | CA338947978 | C1QB | c.482A>C (p.Lys161Thr) c.*52A>C (n.*52A>C) c.560A>C (p.Lys187Thr) c.473A>C (p.Lys158Thr) c.*651A>C (n.*651A>C) c.488A>C (p.Lys163Thr) | |
| 1 | g.22661112A>G | CA338947981 | C1QB | c.482A>G (p.Lys161Arg) c.*52A>G (n.*52A>G) c.560A>G (p.Lys187Arg) c.473A>G (p.Lys158Arg) c.*651A>G (n.*651A>G) c.488A>G (p.Lys163Arg) | |
| 1 | g.22661112A>T | CA338947997 | C1QB | c.482A>T (p.Lys161Met) c.*52A>T (n.*52A>T) c.560A>T (p.Lys187Met) c.473A>T (p.Lys158Met) c.*651A>T (n.*651A>T) c.488A>T (p.Lys163Met) | |
| 1 | g.22661113G>A | CA416684509 | C1QB | c.483G>A (p.Lys161=) c.*53G>A (n.*53G>A) c.561G>A (p.Lys187=) c.474G>A (p.Lys158=) c.*652G>A (n.*652G>A) c.489G>A (p.Lys163=) | gnomAD v4 |
| 1 | g.22661113G>C | CA338948005 | C1QB | c.483G>C (p.Lys161Asn) c.*53G>C (n.*53G>C) c.561G>C (p.Lys187Asn) c.474G>C (p.Lys158Asn) c.*652G>C (n.*652G>C) c.489G>C (p.Lys163Asn) | |
| 1 | g.22661113G>T | CA338948008 | C1QB | c.483G>T (p.Lys161Asn) c.*53G>T (n.*53G>T) c.561G>T (p.Lys187Asn) c.474G>T (p.Lys158Asn) c.*652G>T (n.*652G>T) c.489G>T (p.Lys163Asn) | COSMIC |
| 1 | g.22661114G>A | CA338948028 | C1QB | c.484G>A (p.Val162Met) c.*54G>A (n.*54G>A) c.562G>A (p.Val188Met) c.475G>A (p.Val159Met) c.*653G>A (n.*653G>A) c.490G>A (p.Val164Met) | gnomAD v4 |
| 1 | g.22661114G>C | CA338948033 | C1QB | c.484G>C (p.Val162Leu) c.*54G>C (n.*54G>C) c.562G>C (p.Val188Leu) c.475G>C (p.Val159Leu) c.*653G>C (n.*653G>C) c.490G>C (p.Val164Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22661114G= | CA1158487028 | C1QB | c.484G= (p.Val162=) c.*54G= (n.*54G=) c.562G= (p.Val188=) c.475G= (p.Val159=) c.*653G= (n.*653G=) c.490G= (p.Val164=) | |
| 1 | g.22661114G>T | CA338948039 | C1QB | c.484G>T (p.Val162Leu) c.*54G>T (n.*54G>T) c.562G>T (p.Val188Leu) c.475G>T (p.Val159Leu) c.*653G>T (n.*653G>T) c.490G>T (p.Val164Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.22661115T>A | CA338948041 | C1QB | c.485T>A (p.Val162Glu) c.*55T>A (n.*55T>A) c.563T>A (p.Val188Glu) c.476T>A (p.Val159Glu) c.*654T>A (n.*654T>A) c.491T>A (p.Val164Glu) | |
| 1 | g.22661115T>C | CA338948046 | C1QB | c.485T>C (p.Val162Ala) c.*55T>C (n.*55T>C) c.563T>C (p.Val188Ala) c.476T>C (p.Val159Ala) c.*654T>C (n.*654T>C) c.491T>C (p.Val164Ala) | |
| 1 | g.22661115T>G | CA338948048 | C1QB | c.485T>G (p.Val162Gly) c.*55T>G (n.*55T>G) c.563T>G (p.Val188Gly) c.476T>G (p.Val159Gly) c.*654T>G (n.*654T>G) c.491T>G (p.Val164Gly) | |
| 1 | g.22661116G>A | CA416684515 | C1QB | c.486G>A (p.Val162=) c.*56G>A (n.*56G>A) c.564G>A (p.Val188=) c.477G>A (p.Val159=) c.*655G>A (n.*655G>A) c.492G>A (p.Val164=) | |
| 1 | g.22661116G>C | CA416684517 | C1QB | c.486G>C (p.Val162=) c.*56G>C (n.*56G>C) c.564G>C (p.Val188=) c.477G>C (p.Val159=) c.*655G>C (n.*655G>C) c.492G>C (p.Val164=) | |
| 1 | g.22661116G= | CA1158487029 | C1QB | c.486G= (p.Val162=) c.*56G= (n.*56G=) c.564G= (p.Val188=) c.477G= (p.Val159=) c.*655G= (n.*655G=) c.492G= (p.Val164=) | |
| 1 | g.22661116G>T | CA416684519 | C1QB | c.486G>T (p.Val162=) c.*56G>T (n.*56G>T) c.564G>T (p.Val188=) c.477G>T (p.Val159=) c.*655G>T (n.*655G>T) c.492G>T (p.Val164=) | dbSNP gnomAD v4 |
| 1 | g.22661117C>A | CA338948054 | C1QB | c.487C>A (p.Pro163Thr) c.*57C>A (n.*57C>A) c.565C>A (p.Pro189Thr) c.478C>A (p.Pro160Thr) c.*656C>A (n.*656C>A) c.493C>A (p.Pro165Thr) | |
| 1 | g.22661117C>G | CA338948059 | C1QB | c.487C>G (p.Pro163Ala) c.*57C>G (n.*57C>G) c.565C>G (p.Pro189Ala) c.478C>G (p.Pro160Ala) c.*656C>G (n.*656C>G) c.493C>G (p.Pro165Ala) | |
| 1 | g.22661117C>T | CA338948052 | C1QB | c.487C>T (p.Pro163Ser) c.*57C>T (n.*57C>T) c.565C>T (p.Pro189Ser) c.478C>T (p.Pro160Ser) c.*656C>T (n.*656C>T) c.493C>T (p.Pro165Ser) | gnomAD v4 |
| 1 | g.22661118C>A | CA338948070 | C1QB | c.488C>A (p.Pro163His) c.*58C>A (n.*58C>A) c.566C>A (p.Pro189His) c.479C>A (p.Pro160His) c.*657C>A (n.*657C>A) c.494C>A (p.Pro165His) | |
| 1 | g.22661118C>G | CA338948081 | C1QB | c.488C>G (p.Pro163Arg) c.*58C>G (n.*58C>G) c.566C>G (p.Pro189Arg) c.479C>G (p.Pro160Arg) c.*657C>G (n.*657C>G) c.494C>G (p.Pro165Arg) | |
| 1 | g.22661118C>T | CA338948082 | C1QB | c.488C>T (p.Pro163Leu) c.*58C>T (n.*58C>T) c.566C>T (p.Pro189Leu) c.479C>T (p.Pro160Leu) c.*657C>T (n.*657C>T) c.494C>T (p.Pro165Leu) | |
| 1 | g.22661119C>A | CA416684523 | C1QB | c.489C>A (p.Pro163=) c.*59C>A (n.*59C>A) c.567C>A (p.Pro189=) c.480C>A (p.Pro160=) c.*658C>A (n.*658C>A) c.495C>A (p.Pro165=) | gnomAD v4 |
| 1 | g.22661119C= | CA1141741401 | C1QB | c.489C= (p.Pro163=) c.*59C= (n.*59C=) c.567C= (p.Pro189=) c.480C= (p.Pro160=) c.*658C= (n.*658C=) c.495C= (p.Pro165=) | |
| 1 | g.22661119C>G | CA416684524 | C1QB | c.489C>G (p.Pro163=) c.*59C>G (n.*59C>G) c.567C>G (p.Pro189=) c.480C>G (p.Pro160=) c.*658C>G (n.*658C>G) c.495C>G (p.Pro165=) | dbSNP |
| 1 | g.22661119C>T | CA678172 | C1QB | c.489C>T (p.Pro163=) c.*59C>T (n.*59C>T) c.567C>T (p.Pro189=) c.480C>T (p.Pro160=) c.*658C>T (n.*658C>T) c.495C>T (p.Pro165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661120G>A | CA678173 | C1QB | c.490G>A (p.Gly164Ser) c.*60G>A (n.*60G>A) c.568G>A (p.Gly190Ser) c.481G>A (p.Gly161Ser) c.*659G>A (n.*659G>A) c.496G>A (p.Gly166Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.22661120G>C | CA338948102 | C1QB | c.490G>C (p.Gly164Arg) c.*60G>C (n.*60G>C) c.568G>C (p.Gly190Arg) c.481G>C (p.Gly161Arg) c.*659G>C (n.*659G>C) c.496G>C (p.Gly166Arg) | |
| 1 | g.22661120G= | CA1158487030 | C1QB | c.490G= (p.Gly164=) c.*60G= (n.*60G=) c.568G= (p.Gly190=) c.481G= (p.Gly161=) c.*659G= (n.*659G=) c.496G= (p.Gly166=) | |
| 1 | g.22661120G>T | CA338948093 | C1QB | c.490G>T (p.Gly164Cys) c.*60G>T (n.*60G>T) c.568G>T (p.Gly190Cys) c.481G>T (p.Gly161Cys) c.*659G>T (n.*659G>T) c.496G>T (p.Gly166Cys) | COSMIC |
| 1 | g.22661121dup | CA2695707093 | C1QB | c.491dup (p.Leu165SerfsTer?) c.*61dup (n.*61dup) c.569dup (p.Leu191SerfsTer?) c.482dup (p.Leu162SerfsTer?) c.*660dup (n.*660dup) c.497dup (p.Leu167SerfsTer?) | dbSNP |
| 1 | g.22661121G>A | CA338948640 | C1QB | c.491G>A (p.Gly164Asp) c.*61G>A (n.*61G>A) c.569G>A (p.Gly190Asp) c.482G>A (p.Gly161Asp) c.*660G>A (n.*660G>A) c.497G>A (p.Gly166Asp) | |
| 1 | g.22661121G>C | CA338948648 | C1QB | c.491G>C (p.Gly164Ala) c.*61G>C (n.*61G>C) c.569G>C (p.Gly190Ala) c.482G>C (p.Gly161Ala) c.*660G>C (n.*660G>C) c.497G>C (p.Gly166Ala) | |
| 1 | g.22661121G>T | CA338948650 | C1QB | c.491G>T (p.Gly164Val) c.*61G>T (n.*61G>T) c.569G>T (p.Gly190Val) c.482G>T (p.Gly161Val) c.*660G>T (n.*660G>T) c.497G>T (p.Gly166Val) | |
| 1 | g.22661122T>A | CA416684222 | C1QB | c.492T>A (p.Gly164=) c.*62T>A (n.*62T>A) c.570T>A (p.Gly190=) c.483T>A (p.Gly161=) c.*661T>A (n.*661T>A) c.498T>A (p.Gly166=) | |
| 1 | g.22661122T>C | CA416684220 | C1QB | c.492T>C (p.Gly164=) c.*62T>C (n.*62T>C) c.570T>C (p.Gly190=) c.483T>C (p.Gly161=) c.*661T>C (n.*661T>C) c.498T>C (p.Gly166=) | dbSNP COSMIC |
| 1 | g.22661122T>G | CA416684221 | C1QB | c.492T>G (p.Gly164=) c.*62T>G (n.*62T>G) c.570T>G (p.Gly190=) c.483T>G (p.Gly161=) c.*661T>G (n.*661T>G) c.498T>G (p.Gly166=) | |
| 1 | g.22661122T= | CA1158487031 | C1QB | c.492T= (p.Gly164=) c.*62T= (n.*62T=) c.570T= (p.Gly190=) c.483T= (p.Gly161=) c.*661T= (n.*661T=) c.498T= (p.Gly166=) | |
| 1 | g.22661123C>A | CA338948661 | C1QB | c.493C>A (p.Leu165Ile) c.*63C>A (n.*63C>A) c.571C>A (p.Leu191Ile) c.484C>A (p.Leu162Ile) c.*662C>A (n.*662C>A) c.499C>A (p.Leu167Ile) | |
| 1 | g.22661123C>G | CA338948663 | C1QB | c.493C>G (p.Leu165Val) c.*63C>G (n.*63C>G) c.571C>G (p.Leu191Val) c.484C>G (p.Leu162Val) c.*662C>G (n.*662C>G) c.499C>G (p.Leu167Val) | |
| 1 | g.22661123C>T | CA338948667 | C1QB | c.493C>T (p.Leu165Phe) c.*63C>T (n.*63C>T) c.571C>T (p.Leu191Phe) c.484C>T (p.Leu162Phe) c.*662C>T (n.*662C>T) c.499C>T (p.Leu167Phe) | |
| 1 | g.22661124T>A | CA338948671 | C1QB | c.494T>A (p.Leu165His) c.*64T>A (n.*64T>A) c.572T>A (p.Leu191His) c.485T>A (p.Leu162His) c.*663T>A (n.*663T>A) c.500T>A (p.Leu167His) | |
| 1 | g.22661124T>C | CA338948679 | C1QB | c.494T>C (p.Leu165Pro) c.*64T>C (n.*64T>C) c.572T>C (p.Leu191Pro) c.485T>C (p.Leu162Pro) c.*663T>C (n.*663T>C) c.500T>C (p.Leu167Pro) | |
| 1 | g.22661124T>G | CA338948675 | C1QB | c.494T>G (p.Leu165Arg) c.*64T>G (n.*64T>G) c.572T>G (p.Leu191Arg) c.485T>G (p.Leu162Arg) c.*663T>G (n.*663T>G) c.500T>G (p.Leu167Arg) | |
| 1 | g.22661125C>A | CA416684225 | C1QB | c.495C>A (p.Leu165=) c.*65C>A (n.*65C>A) c.573C>A (p.Leu191=) c.486C>A (p.Leu162=) c.*664C>A (n.*664C>A) c.501C>A (p.Leu167=) | |
| 1 | g.22661125C= | CA1158487032 | C1QB | c.495C= (p.Leu165=) c.*65C= (n.*65C=) c.573C= (p.Leu191=) c.486C= (p.Leu162=) c.*664C= (n.*664C=) c.501C= (p.Leu167=) | |
| 1 | g.22661125C>G | CA416684227 | C1QB | c.495C>G (p.Leu165=) c.*65C>G (n.*65C>G) c.573C>G (p.Leu191=) c.486C>G (p.Leu162=) c.*664C>G (n.*664C>G) c.501C>G (p.Leu167=) | |
| 1 | g.22661125C>T | CA678174 | C1QB | c.495C>T (p.Leu165=) c.*65C>T (n.*65C>T) c.573C>T (p.Leu191=) c.486C>T (p.Leu162=) c.*664C>T (n.*664C>T) c.501C>T (p.Leu167=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.22661126T>A | CA338948686 | C1QB | c.496T>A (p.Tyr166Asn) c.*66T>A (n.*66T>A) c.574T>A (p.Tyr192Asn) c.487T>A (p.Tyr163Asn) c.*665T>A (n.*665T>A) c.502T>A (p.Tyr168Asn) | |
| 1 | g.22661126T>C | CA338948691 | C1QB | c.496T>C (p.Tyr166His) c.*66T>C (n.*66T>C) c.574T>C (p.Tyr192His) c.487T>C (p.Tyr163His) c.*665T>C (n.*665T>C) c.502T>C (p.Tyr168His) | gnomAD v4 |
| 1 | g.22661126T>G | CA338948694 | C1QB | c.496T>G (p.Tyr166Asp) c.*66T>G (n.*66T>G) c.574T>G (p.Tyr192Asp) c.487T>G (p.Tyr163Asp) c.*665T>G (n.*665T>G) c.502T>G (p.Tyr168Asp) | |
| 1 | g.22661127A>C | CA338948699 | C1QB | c.497A>C (p.Tyr166Ser) c.*67A>C (n.*67A>C) c.575A>C (p.Tyr192Ser) c.488A>C (p.Tyr163Ser) c.*666A>C (n.*666A>C) c.503A>C (p.Tyr168Ser) | |
| 1 | g.22661127A>G | CA338948700 | C1QB | c.497A>G (p.Tyr166Cys) c.*67A>G (n.*67A>G) c.575A>G (p.Tyr192Cys) c.488A>G (p.Tyr163Cys) c.*666A>G (n.*666A>G) c.503A>G (p.Tyr168Cys) | |
| 1 | g.22661127A>T | CA338948701 | C1QB | c.497A>T (p.Tyr166Phe) c.*67A>T (n.*67A>T) c.575A>T (p.Tyr192Phe) c.488A>T (p.Tyr163Phe) c.*666A>T (n.*666A>T) c.503A>T (p.Tyr168Phe) | |
| 1 | g.22661128C>A | CA338948710 | C1QB | c.498C>A (p.Tyr166Ter) c.*68C>A (n.*68C>A) c.576C>A (p.Tyr192Ter) c.489C>A (p.Tyr163Ter) c.*667C>A (n.*667C>A) c.504C>A (p.Tyr168Ter) | |
| 1 | g.22661128C>G | CA338948712 | C1QB | c.498C>G (p.Tyr166Ter) c.*68C>G (n.*68C>G) c.576C>G (p.Tyr192Ter) c.489C>G (p.Tyr163Ter) c.*667C>G (n.*667C>G) c.504C>G (p.Tyr168Ter) | |
| 1 | g.22661128C>T | CA416684228 | C1QB | c.498C>T (p.Tyr166=) c.*68C>T (n.*68C>T) c.576C>T (p.Tyr192=) c.489C>T (p.Tyr163=) c.*667C>T (n.*667C>T) c.504C>T (p.Tyr168=) | |
| 1 | g.22661129T>A | CA338948718 | C1QB | c.499T>A (p.Tyr167Asn) c.*69T>A (n.*69T>A) c.577T>A (p.Tyr193Asn) c.490T>A (p.Tyr164Asn) c.*668T>A (n.*668T>A) c.505T>A (p.Tyr169Asn) | |
| 1 | g.22661129T>C | CA338948722 | C1QB | c.499T>C (p.Tyr167His) c.*69T>C (n.*69T>C) c.577T>C (p.Tyr193His) c.490T>C (p.Tyr164His) c.*668T>C (n.*668T>C) c.505T>C (p.Tyr169His) | |
| 1 | g.22661129T>G | CA338948723 | C1QB | c.499T>G (p.Tyr167Asp) c.*69T>G (n.*69T>G) c.577T>G (p.Tyr193Asp) c.490T>G (p.Tyr164Asp) c.*668T>G (n.*668T>G) c.505T>G (p.Tyr169Asp) | |
| 1 | g.22661130A= | CA1158487033 | C1QB | c.500A= (p.Tyr167=) c.*70A= (n.*70A=) c.578A= (p.Tyr193=) c.491A= (p.Tyr164=) c.*669A= (n.*669A=) c.506A= (p.Tyr169=) | |
| 1 | g.22661130A>C | CA338948728 | C1QB | c.500A>C (p.Tyr167Ser) c.*70A>C (n.*70A>C) c.578A>C (p.Tyr193Ser) c.491A>C (p.Tyr164Ser) c.*669A>C (n.*669A>C) c.506A>C (p.Tyr169Ser) | |
| 1 | g.22661130A>G | CA338948729 | C1QB | c.500A>G (p.Tyr167Cys) c.*70A>G (n.*70A>G) c.578A>G (p.Tyr193Cys) c.491A>G (p.Tyr164Cys) c.*669A>G (n.*669A>G) c.506A>G (p.Tyr169Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661130A>T | CA338948725 | C1QB | c.500A>T (p.Tyr167Phe) c.*70A>T (n.*70A>T) c.578A>T (p.Tyr193Phe) c.491A>T (p.Tyr164Phe) c.*669A>T (n.*669A>T) c.506A>T (p.Tyr169Phe) | |
| 1 | g.22661131C>A | CA338948735 | C1QB | c.501C>A (p.Tyr167Ter) c.*71C>A (n.*71C>A) c.579C>A (p.Tyr193Ter) c.492C>A (p.Tyr164Ter) c.*670C>A (n.*670C>A) c.507C>A (p.Tyr169Ter) | |
| 1 | g.22661131C= | CA1143481875 | C1QB | c.501C= (p.Tyr167=) c.*71C= (n.*71C=) c.579C= (p.Tyr193=) c.492C= (p.Tyr164=) c.*670C= (n.*670C=) c.507C= (p.Tyr169=) | |
| 1 | g.22661131C>G | CA338948731 | C1QB | c.501C>G (p.Tyr167Ter) c.*71C>G (n.*71C>G) c.579C>G (p.Tyr193Ter) c.492C>G (p.Tyr164Ter) c.*670C>G (n.*670C>G) c.507C>G (p.Tyr169Ter) | |
| 1 | g.22661131C>T | CA678175 | C1QB | c.501C>T (p.Tyr167=) c.*71C>T (n.*71C>T) c.579C>T (p.Tyr193=) c.492C>T (p.Tyr164=) c.*670C>T (n.*670C>T) c.507C>T (p.Tyr169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22661132T>A | CA338948737 | C1QB | c.502T>A (p.Phe168Ile) c.*72T>A (n.*72T>A) c.580T>A (p.Phe194Ile) c.493T>A (p.Phe165Ile) c.*671T>A (n.*671T>A) c.508T>A (p.Phe170Ile) | |
| 1 | g.22661132T>C | CA338948740 | C1QB | c.502T>C (p.Phe168Leu) c.*72T>C (n.*72T>C) c.580T>C (p.Phe194Leu) c.493T>C (p.Phe165Leu) c.*671T>C (n.*671T>C) c.508T>C (p.Phe170Leu) | gnomAD v4 |
| 1 | g.22661132T>G | CA338948750 | C1QB | c.502T>G (p.Phe168Val) c.*72T>G (n.*72T>G) c.580T>G (p.Phe194Val) c.493T>G (p.Phe165Val) c.*671T>G (n.*671T>G) c.508T>G (p.Phe170Val) | |
| 1 | g.22661133T>A | CA338948753 | C1QB | c.503T>A (p.Phe168Tyr) c.*73T>A (n.*73T>A) c.581T>A (p.Phe194Tyr) c.494T>A (p.Phe165Tyr) c.*672T>A (n.*672T>A) c.509T>A (p.Phe170Tyr) | |
| 1 | g.22661133T>C | CA338948755 | C1QB | c.503T>C (p.Phe168Ser) c.*73T>C (n.*73T>C) c.581T>C (p.Phe194Ser) c.494T>C (p.Phe165Ser) c.*672T>C (n.*672T>C) c.509T>C (p.Phe170Ser) | |
| 1 | g.22661133T>G | CA338948756 | C1QB | c.503T>G (p.Phe168Cys) c.*73T>G (n.*73T>G) c.581T>G (p.Phe194Cys) c.494T>G (p.Phe165Cys) c.*672T>G (n.*672T>G) c.509T>G (p.Phe170Cys) | |
| 1 | g.22661134C>A | CA338948759 | C1QB | c.504C>A (p.Phe168Leu) c.*74C>A (n.*74C>A) c.582C>A (p.Phe194Leu) c.495C>A (p.Phe165Leu) c.*673C>A (n.*673C>A) c.510C>A (p.Phe170Leu) | |
| 1 | g.22661134C>G | CA338948760 | C1QB | c.504C>G (p.Phe168Leu) c.*74C>G (n.*74C>G) c.582C>G (p.Phe194Leu) c.495C>G (p.Phe165Leu) c.*673C>G (n.*673C>G) c.510C>G (p.Phe170Leu) | |
| 1 | g.22661134C>T | CA416684240 | C1QB | c.504C>T (p.Phe168=) c.*74C>T (n.*74C>T) c.582C>T (p.Phe194=) c.495C>T (p.Phe165=) c.*673C>T (n.*673C>T) c.510C>T (p.Phe170=) | COSMIC |
| 1 | g.22661135A= | CA1158487034 | C1QB | c.505A= (p.Thr169=) c.*75A= (n.*75A=) c.583A= (p.Thr195=) c.496A= (p.Thr166=) c.*674A= (n.*674A=) c.511A= (p.Thr171=) | |
| 1 | g.22661135A>C | CA338948766 | C1QB | c.505A>C (p.Thr169Pro) c.*75A>C (n.*75A>C) c.583A>C (p.Thr195Pro) c.496A>C (p.Thr166Pro) c.*674A>C (n.*674A>C) c.511A>C (p.Thr171Pro) | dbSNP |
| 1 | g.22661135A>G | CA338948776 | C1QB | c.505A>G (p.Thr169Ala) c.*75A>G (n.*75A>G) c.583A>G (p.Thr195Ala) c.496A>G (p.Thr166Ala) c.*674A>G (n.*674A>G) c.511A>G (p.Thr171Ala) | |
| 1 | g.22661135A>T | CA338948779 | C1QB | c.505A>T (p.Thr169Ser) c.*75A>T (n.*75A>T) c.583A>T (p.Thr195Ser) c.496A>T (p.Thr166Ser) c.*674A>T (n.*674A>T) c.511A>T (p.Thr171Ser) | |
| 1 | g.22661136C>A | CA338948782 | C1QB | c.506C>A (p.Thr169Asn) c.*76C>A (n.*76C>A) c.584C>A (p.Thr195Asn) c.497C>A (p.Thr166Asn) c.*675C>A (n.*675C>A) c.512C>A (p.Thr171Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.22661136C= | CA1158487035 | C1QB | c.506C= (p.Thr169=) c.*76C= (n.*76C=) c.584C= (p.Thr195=) c.497C= (p.Thr166=) c.*675C= (n.*675C=) c.512C= (p.Thr171=) | |
| 1 | g.22661136C>G | CA338948790 | C1QB | c.506C>G (p.Thr169Ser) c.*76C>G (n.*76C>G) c.584C>G (p.Thr195Ser) c.497C>G (p.Thr166Ser) c.*675C>G (n.*675C>G) c.512C>G (p.Thr171Ser) | |
| 1 | g.22661136C>T | CA338948787 | C1QB | c.506C>T (p.Thr169Ile) c.*76C>T (n.*76C>T) c.584C>T (p.Thr195Ile) c.497C>T (p.Thr166Ile) c.*675C>T (n.*675C>T) c.512C>T (p.Thr171Ile) |