Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
1 | g.152313901A>G | CA1107836 | FLG | c.985T>C (p.Ser329Pro) n.443A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313901A>T | CA342103900 | FLG | c.985T>A (p.Ser329Thr) n.443A>T | dbSNP |
1 | g.152313902C>A | CA342103901 | FLG | c.984G>T (p.Gln328His) n.444C>A | gnomAD v4 |
1 | g.152313902C= | CA2479952707 | FLG | c.984G= (p.Gln328=) n.444C= | |
1 | g.152313902C>G | CA342103902 | FLG | c.984G>C (p.Gln328His) n.444C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313902C>T | CA420931968 | FLG | c.984G>A (p.Gln328=) n.444C>T | gnomAD v4 |
1 | g.152313903T>A | CA342103903 | FLG | c.983A>T (p.Gln328Leu) n.445T>A | |
1 | g.152313903T>C | CA342103904 | FLG | c.983A>G (p.Gln328Arg) n.445T>C | |
1 | g.152313903T>G | CA342103906 | FLG | c.983A>C (p.Gln328Pro) n.445T>G | |
1 | g.152313904G>A | CA342103908 | FLG | c.982C>T (p.Gln328Ter) n.446G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313904G>C | CA342103909 | FLG | c.982C>G (p.Gln328Glu) n.446G>C | |
1 | g.152313904G= | CA2479952708 | FLG | c.982C= (p.Gln328=) n.446G= | |
1 | g.152313904G>T | CA342103910 | FLG | c.982C>A (p.Gln328Lys) n.446G>T | |
1 | g.152313905C>A | CA342103912 | FLG | c.981G>T (p.Glu327Asp) n.447C>A | |
1 | g.152313905C>G | CA342103914 | FLG | c.981G>C (p.Glu327Asp) n.447C>G | |
1 | g.152313905C>T | CA420931975 | FLG | c.981G>A (p.Glu327=) n.447C>T | |
1 | g.152313906T>A | CA342103917 | FLG | c.980A>T (p.Glu327Val) n.448T>A | |
1 | g.152313906T>C | CA342103918 | FLG | c.980A>G (p.Glu327Gly) n.448T>C | |
1 | g.152313906T>G | CA342103919 | FLG | c.980A>C (p.Glu327Ala) n.448T>G | |
1 | g.152313907C>A | CA342103920 | FLG | c.979G>T (p.Glu327Ter) n.449C>A | |
1 | g.152313907C= | CA1143688361 | FLG | c.979G= (p.Glu327=) n.449C= | |
1 | g.152313907C>G | CA342103922 | FLG | c.979G>C (p.Glu327Gln) n.449C>G | |
1 | g.152313907C>T | CA1107837 | FLG | c.979G>A (p.Glu327Lys) n.449C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313908C>A | CA342103926 | FLG | c.978G>T (p.Trp326Cys) n.450C>A | |
1 | g.152313908C= | CA2479952709 | FLG | c.978G= (p.Trp326=) n.450C= |