Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.31067036_31067052del | CA2695209181 | WRN | c.508_524del (p.Lys170GlufsTer3) c.*122_*138del (n.*122_*138del) n.781_797del c.298_314del (p.Lys100GlufsTer3) n.809_825del | |
8 | g.31067041_31067042delinsTC | CA658657758 | WRN | c.513_514delinsTC (p.Thr172Pro) c.*127_*128delinsTC (n.*127_*128delinsTC) n.786_787delinsTC c.303_304delinsTC (p.Thr102Pro) n.814_815delinsTC | ClinVar dbSNP |
8 | g.31067041_31067042delinsTT | CA2573142713 | WRN | c.513_514delinsTT (p.Thr172Ser) c.*127_*128delinsTT (n.*127_*128delinsTT) n.786_787delinsTT c.303_304delinsTT (p.Thr102Ser) n.814_815delinsTT | ClinVar dbSNP |
8 | g.31067043_31067044del | CA915945633 | WRN | c.515_516del (p.Thr172ArgfsTer6) c.*129_*130del (n.*129_*130del) n.788_789del c.305_306del (p.Thr102ArgfsTer6) n.816_817del | ClinVar dbSNP gnomAD v4 |
8 | g.31067042A>C | CA162785 | WRN | c.514A>C (p.Thr172Pro) c.*128A>C (n.*128A>C) n.787A>C c.304A>C (p.Thr102Pro) n.815A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.31067042A>G | CA370915849 | WRN | c.514A>G (p.Thr172Ala) c.*128A>G (n.*128A>G) n.787A>G c.304A>G (p.Thr102Ala) n.815A>G | |
8 | g.31067042A>T | CA370915846 | WRN | c.514A>T (p.Thr172Ser) c.*128A>T (n.*128A>T) n.787A>T c.304A>T (p.Thr102Ser) n.815A>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.31067043C>A | CA4704096 | WRN | c.515C>A (p.Thr172Lys) c.*129C>A (n.*129C>A) n.788C>A c.305C>A (p.Thr102Lys) n.816C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.31067043C>G | CA370915853 | WRN | c.515C>G (p.Thr172Arg) c.*129C>G (n.*129C>G) n.788C>G c.305C>G (p.Thr102Arg) n.816C>G | |
8 | g.31067043C>T | CA370915857 | WRN | c.515C>T (p.Thr172Ile) c.*129C>T (n.*129C>T) n.788C>T c.305C>T (p.Thr102Ile) n.816C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.31067044A>C | CA460221595 | WRN | c.516A>C (p.Thr172=) c.*130A>C (n.*130A>C) n.789A>C c.306A>C (p.Thr102=) n.817A>C | |
8 | g.31067044A>G | CA460221596 | WRN | c.516A>G (p.Thr172=) c.*130A>G (n.*130A>G) n.789A>G c.306A>G (p.Thr102=) n.817A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.31067044A>T | CA460221597 | WRN | c.516A>T (p.Thr172=) c.*130A>T (n.*130A>T) n.789A>T c.306A>T (p.Thr102=) n.817A>T | |
8 | g.31067045del | CA2497474566 | WRN | c.517del (p.Glu173ArgfsTer13) c.*131del (n.*131del) n.790del c.307del (p.Glu103ArgfsTer13) n.818del | dbSNP |
8 | g.31067045G>A | CA370915860 | WRN | c.517G>A (p.Glu173Lys) c.*131G>A (n.*131G>A) n.790G>A c.307G>A (p.Glu103Lys) n.818G>A | |
8 | g.31067045G>C | CA370915862 | WRN | c.517G>C (p.Glu173Gln) c.*131G>C (n.*131G>C) n.790G>C c.307G>C (p.Glu103Gln) n.818G>C | |
8 | g.31067045G>T | CA370915865 | WRN | c.517G>T (p.Glu173Ter) c.*131G>T (n.*131G>T) n.790G>T c.307G>T (p.Glu103Ter) n.818G>T | gnomAD v4 |
8 | g.31067046A>C | CA370915868 | WRN | c.518A>C (p.Glu173Ala) c.*132A>C (n.*132A>C) n.791A>C c.308A>C (p.Glu103Ala) n.819A>C | |
8 | g.31067046A>G | CA370915866 | WRN | c.518A>G (p.Glu173Gly) c.*132A>G (n.*132A>G) n.791A>G c.308A>G (p.Glu103Gly) n.819A>G | |
8 | g.31067046A>T | CA370915867 | WRN | c.518A>T (p.Glu173Val) c.*132A>T (n.*132A>T) n.791A>T c.308A>T (p.Glu103Val) n.819A>T | |
8 | g.31067046_31067050del | CA2686835088 | WRN | c.518_522del (p.Glu173ValfsTer4) c.*132_*136del (n.*132_*136del) n.791_795del c.308_312del (p.Glu103ValfsTer4) n.819_823del | gnomAD v4 |
8 | g.31067047G>A | CA460221598 | WRN | c.519G>A (p.Glu173=) c.*133G>A (n.*133G>A) n.792G>A c.309G>A (p.Glu103=) n.820G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.31067047G>C | CA370915870 | WRN | c.519G>C (p.Glu173Asp) c.*133G>C (n.*133G>C) n.792G>C c.309G>C (p.Glu103Asp) n.820G>C | |
8 | g.31067047G>T | CA370915872 | WRN | c.519G>T (p.Glu173Asp) c.*133G>T (n.*133G>T) n.792G>T c.309G>T (p.Glu103Asp) n.820G>T | |
8 | g.31067048A>C | CA370915875 | WRN | c.520A>C (p.Thr174Pro) c.*134A>C (n.*134A>C) n.793A>C c.310A>C (p.Thr104Pro) n.821A>C | |
8 | g.31067048A>G | CA370915877 | WRN | c.520A>G (p.Thr174Ala) c.*134A>G (n.*134A>G) n.793A>G c.310A>G (p.Thr104Ala) n.821A>G | |
8 | g.31067048A>T | CA370915879 | WRN | c.520A>T (p.Thr174Ser) c.*134A>T (n.*134A>T) n.793A>T c.310A>T (p.Thr104Ser) n.821A>T | ClinVar dbSNP gnomAD v4 |
8 | g.31067049C>A | CA370915887 | WRN | c.521C>A (p.Thr174Asn) c.*135C>A (n.*135C>A) n.794C>A c.311C>A (p.Thr104Asn) n.822C>A | |
8 | g.31067049C>G | CA370915882 | WRN | c.521C>G (p.Thr174Ser) c.*135C>G (n.*135C>G) n.794C>G c.311C>G (p.Thr104Ser) n.822C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.31067049C>T | CA370915884 | WRN | c.521C>T (p.Thr174Ile) c.*135C>T (n.*135C>T) n.794C>T c.311C>T (p.Thr104Ile) n.822C>T | dbSNP gnomAD v4 COSMIC |
8 | g.31067050C>A | CA460221599 | WRN | c.522C>A (p.Thr174=) c.*136C>A (n.*136C>A) n.795C>A c.312C>A (p.Thr104=) n.823C>A | gnomAD v4 |
8 | g.31067050C>G | CA460221600 | WRN | c.522C>G (p.Thr174=) c.*136C>G (n.*136C>G) n.795C>G c.312C>G (p.Thr104=) n.823C>G | |
8 | g.31067050C>T | CA460221601 | WRN | c.522C>T (p.Thr174=) c.*136C>T (n.*136C>T) n.795C>T c.312C>T (p.Thr104=) n.823C>T | |
8 | g.31067050_31067051dup | CA658797075 | WRN | c.522_523dup (p.Trp175SerfsTer12) c.*136_*137dup (n.*136_*137dup) n.795_796dup c.312_313dup (p.Trp105SerfsTer12) n.823_824dup | ClinVar dbSNP |
8 | g.31067050_31067053del | CA2686835089 | WRN | c.522_525del (p.Trp175AlafsTer10) c.*136_*139del (n.*136_*139del) n.795_798del c.312_315del (p.Trp105AlafsTer10) n.823_826del | gnomAD v4 |
8 | g.31067051T>A | CA370915888 | WRN | c.523T>A (p.Trp175Arg) c.*137T>A (n.*137T>A) n.796T>A c.313T>A (p.Trp105Arg) n.824T>A | |
8 | g.31067051T>C | CA370915890 | WRN | c.523T>C (p.Trp175Arg) c.*137T>C (n.*137T>C) n.796T>C c.313T>C (p.Trp105Arg) n.824T>C | ClinVar dbSNP gnomAD v4 |
8 | g.31067051T>G | CA370915901 | WRN | c.523T>G (p.Trp175Gly) c.*137T>G (n.*137T>G) n.796T>G c.313T>G (p.Trp105Gly) n.824T>G | ClinVar dbSNP gnomAD v4 |
8 | g.31067052G>A | CA370915904 | WRN | c.524G>A (p.Trp175Ter) c.*138G>A (n.*138G>A) n.797G>A c.314G>A (p.Trp105Ter) n.825G>A | |
8 | g.31067052G>C | CA370915909 | WRN | c.524G>C (p.Trp175Ser) c.*138G>C (n.*138G>C) n.797G>C c.314G>C (p.Trp105Ser) n.825G>C | |
8 | g.31067052G>T | CA370915910 | WRN | c.524G>T (p.Trp175Leu) c.*138G>T (n.*138G>T) n.797G>T c.314G>T (p.Trp105Leu) n.825G>T | |
8 | g.31067053del | CA4704097 | WRN | c.525del (p.Trp175Ter) c.*139del (n.*139del) n.798del c.315del (p.Trp105Ter) n.826del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.31067053G>A | CA370915913 | WRN | c.525G>A (p.Trp175Ter) c.*139G>A (n.*139G>A) n.798G>A c.315G>A (p.Trp105Ter) n.826G>A | dbSNP gnomAD v4 |
8 | g.31067053G>C | CA370915915 | WRN | c.525G>C (p.Trp175Cys) c.*139G>C (n.*139G>C) n.798G>C c.315G>C (p.Trp105Cys) n.826G>C | ClinVar gnomAD v4 |
8 | g.31067053G>T | CA370915917 | WRN | c.525G>T (p.Trp175Cys) c.*139G>T (n.*139G>T) n.798G>T c.315G>T (p.Trp105Cys) n.826G>T | |
8 | g.31067054A>C | CA370915919 | WRN | c.526A>C (p.Ser176Arg) c.*140A>C (n.*140A>C) n.799A>C c.316A>C (p.Ser106Arg) n.827A>C | |
8 | g.31067054A>G | CA370915920 | WRN | c.526A>G (p.Ser176Gly) c.*140A>G (n.*140A>G) n.799A>G c.316A>G (p.Ser106Gly) n.827A>G | |
8 | g.31067054A>T | CA370915922 | WRN | c.526A>T (p.Ser176Cys) c.*140A>T (n.*140A>T) n.799A>T c.316A>T (p.Ser106Cys) n.827A>T | |
8 | g.31067055G>A | CA370915925 | WRN | c.527G>A (p.Ser176Asn) c.*141G>A (n.*141G>A) n.800G>A c.317G>A (p.Ser106Asn) n.828G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.31067055G>C | CA370915924 | WRN | c.527G>C (p.Ser176Thr) c.*141G>C (n.*141G>C) n.800G>C c.317G>C (p.Ser106Thr) n.828G>C |