| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77589929C>T | CA16609409 | ATRX | c.6122G>A (p.Ser2041Asn) c.1220G>A (p.Ser407Asn) c.6008G>A (p.Ser2003Asn) c.*5750G>A (n.*5750G>A) c.606G>A n.3192G>A c.6119G>A (p.Ser2040Asn) c.6035G>A (p.Ser2012Asn) c.6005G>A (p.Ser2002Asn) c.5957G>A (p.Ser1986Asn) c.5918G>A (p.Ser1973Asn) c.5843G>A (p.Ser1948Asn) n.6464G>A c.6032G>A (p.Ser2011Asn) c.6002G>A (p.Ser2001Asn) c.5954G>A (p.Ser1985Asn) c.5921G>A (p.Ser1974Asn) c.5891G>A (p.Ser1964Asn) c.5888G>A (p.Ser1963Asn) c.5840G>A (p.Ser1947Asn) c.5804G>A (p.Ser1935Asn) c.5801G>A (p.Ser1934Asn) c.5756G>A (p.Ser1919Asn) n.6421G>A | ClinVar dbSNP |
| X | g.77589929C>A | CA413702517 | ATRX | c.6122G>T (p.Ser2041Ile) c.1220G>T (p.Ser407Ile) c.6008G>T (p.Ser2003Ile) c.*5750G>T (n.*5750G>T) c.606G>T n.3192G>T c.6119G>T (p.Ser2040Ile) c.6035G>T (p.Ser2012Ile) c.6005G>T (p.Ser2002Ile) c.5957G>T (p.Ser1986Ile) c.5918G>T (p.Ser1973Ile) c.5843G>T (p.Ser1948Ile) n.6464G>T c.6032G>T (p.Ser2011Ile) c.6002G>T (p.Ser2001Ile) c.5954G>T (p.Ser1985Ile) c.5921G>T (p.Ser1974Ile) c.5891G>T (p.Ser1964Ile) c.5888G>T (p.Ser1963Ile) c.5840G>T (p.Ser1947Ile) c.5804G>T (p.Ser1935Ile) c.5801G>T (p.Ser1934Ile) c.5756G>T (p.Ser1919Ile) n.6421G>T | dbSNP |
| X | g.77589929C>G | CA413702519 | ATRX | c.6122G>C (p.Ser2041Thr) c.1220G>C (p.Ser407Thr) c.6008G>C (p.Ser2003Thr) c.*5750G>C (n.*5750G>C) c.606G>C n.3192G>C c.6119G>C (p.Ser2040Thr) c.6035G>C (p.Ser2012Thr) c.6005G>C (p.Ser2002Thr) c.5957G>C (p.Ser1986Thr) c.5918G>C (p.Ser1973Thr) c.5843G>C (p.Ser1948Thr) n.6464G>C c.6032G>C (p.Ser2011Thr) c.6002G>C (p.Ser2001Thr) c.5954G>C (p.Ser1985Thr) c.5921G>C (p.Ser1974Thr) c.5891G>C (p.Ser1964Thr) c.5888G>C (p.Ser1963Thr) c.5840G>C (p.Ser1947Thr) c.5804G>C (p.Ser1935Thr) c.5801G>C (p.Ser1934Thr) c.5756G>C (p.Ser1919Thr) n.6421G>C | dbSNP |