| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152313887G>A | CA420931935 | FLG | c.999C>T (p.Ser333=) n.429G>A | |
| 1 | g.152313887G>C | CA420931936 | FLG | c.999C>G (p.Ser333=) n.429G>C | |
| 1 | g.152313887G>T | CA420931937 | FLG | c.999C>A (p.Ser333=) n.429G>T | |
| 1 | g.152313888del | CA2647993744 | FLG | c.999del (p.Arg334AspfsTer?) n.430del | gnomAD v4 |
| 1 | g.152313888G>A | CA1107832 | FLG | c.998C>T (p.Ser333Phe) n.430G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152313888G>C | CA342103826 | FLG | c.998C>G (p.Ser333Cys) n.430G>C | |
| 1 | g.152313888G= | CA2479952704 | FLG | c.998C= (p.Ser333=) n.430G= | |
| 1 | g.152313888G>T | CA30568281 | FLG | c.998C>A (p.Ser333Tyr) n.430G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152313889A>C | CA342103829 | FLG | c.997T>G (p.Ser333Ala) n.431A>C | |
| 1 | g.152313889A>G | CA342103830 | FLG | c.997T>C (p.Ser333Pro) n.431A>G | |
| 1 | g.152313889A>T | CA342103835 | FLG | c.997T>A (p.Ser333Thr) n.431A>T | |
| 1 | g.152313890G>A | CA420931942 | FLG | c.996C>T (p.Gly332=) n.432G>A | |
| 1 | g.152313890G>C | CA420931944 | FLG | c.996C>G (p.Gly332=) n.432G>C | dbSNP gnomAD v4 |
| 1 | g.152313890G= | CA2479952705 | FLG | c.996C= (p.Gly332=) n.432G= | |
| 1 | g.152313890G>T | CA1107833 | FLG | c.996C>A (p.Gly332=) n.432G>T | dbSNP ExAC gnomAD v2 |
| 1 | g.152313891C>A | CA1107834 | FLG | c.995G>T (p.Gly332Val) n.433C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152313891C= | CA1140609523 | FLG | c.995G= (p.Gly332=) n.433C= | |
| 1 | g.152313891C>G | CA342103840 | FLG | c.995G>C (p.Gly332Ala) n.433C>G | dbSNP |
| 1 | g.152313891C>T | CA342103843 | FLG | c.995G>A (p.Gly332Asp) n.433C>T | |
| 1 | g.152313892C>A | CA342103845 | FLG | c.994G>T (p.Gly332Cys) n.434C>A | |
| 1 | g.152313892C>G | CA342103847 | FLG | c.994G>C (p.Gly332Arg) n.434C>G | |
| 1 | g.152313892C>T | CA342103849 | FLG | c.994G>A (p.Gly332Ser) n.434C>T | |
| 1 | g.152313893A>C | CA342103851 | FLG | c.993T>G (p.Asp331Glu) n.435A>C | |
| 1 | g.152313893A>G | CA420931949 | FLG | c.993T>C (p.Asp331=) n.435A>G | |
| 1 | g.152313893A>T | CA342103853 | FLG | c.993T>A (p.Asp331Glu) n.435A>T | |
| 1 | g.152313894T>A | CA342103855 | FLG | c.992A>T (p.Asp331Val) n.436T>A | |
| 1 | g.152313894T>C | CA342103856 | FLG | c.992A>G (p.Asp331Gly) n.436T>C | |
| 1 | g.152313894T>G | CA342103857 | FLG | c.992A>C (p.Asp331Ala) n.436T>G | |
| 1 | g.152313895C>A | CA342103859 | FLG | c.991G>T (p.Asp331Tyr) n.437C>A | |
| 1 | g.152313895C>G | CA342103861 | FLG | c.991G>C (p.Asp331His) n.437C>G | gnomAD v4 |
| 1 | g.152313895C>T | CA342103862 | FLG | c.991G>A (p.Asp331Asn) n.437C>T | |
| 1 | g.152313896T>A | CA342103866 | FLG | c.990A>T (p.Arg330Ser) n.438T>A | |
| 1 | g.152313896T>C | CA420931957 | FLG | c.990A>G (p.Arg330=) n.438T>C | |
| 1 | g.152313896T>G | CA342103868 | FLG | c.990A>C (p.Arg330Ser) n.438T>G | |
| 1 | g.152313897C>A | CA342103873 | FLG | c.989G>T (p.Arg330Ile) n.439C>A | |
| 1 | g.152313897C>G | CA342103875 | FLG | c.989G>C (p.Arg330Thr) n.439C>G | |
| 1 | g.152313897C>T | CA342103877 | FLG | c.989G>A (p.Arg330Lys) n.439C>T | |
| 1 | g.152313898T>A | CA342103882 | FLG | c.988A>T (p.Arg330Ter) n.440T>A | |
| 1 | g.152313898T>C | CA342103880 | FLG | c.988A>G (p.Arg330Gly) n.440T>C | dbSNP |
| 1 | g.152313898T>G | CA420931961 | FLG | c.988A>C (p.Arg330=) n.440T>G | |
| 1 | g.152313898T= | CA2479952706 | FLG | c.988A= (p.Arg330=) n.440T= | |
| 1 | g.152313899T>A | CA420931962 | FLG | c.987A>T (p.Ser329=) n.441T>A | gnomAD v4 |
| 1 | g.152313899T>C | CA420931964 | FLG | c.987A>G (p.Ser329=) n.441T>C | |
| 1 | g.152313899T>G | CA420931963 | FLG | c.987A>C (p.Ser329=) n.441T>G | |
| 1 | g.152313900G>A | CA1107835 | FLG | c.986C>T (p.Ser329Leu) n.442G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152313900G>C | CA342103889 | FLG | c.986C>G (p.Ser329Ter) n.442G>C | gnomAD v4 |
| 1 | g.152313900G= | CA1146756004 | FLG | c.986C= (p.Ser329=) n.442G= | |
| 1 | g.152313900G>T | CA342103891 | FLG | c.986C>A (p.Ser329Ter) n.442G>T | gnomAD v4 |
| 1 | g.152313901A= | CA1144371899 | FLG | c.985T= (p.Ser329=) n.443A= | |
| 1 | g.152313901A>C | CA342103895 | FLG | c.985T>G (p.Ser329Ala) n.443A>C |