| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77620442C>G | CA413701416 | ATRX | c.5225G>C (p.Arg1742Thr) c.323G>C (p.Arg108Thr) n.960G>C c.5111G>C (p.Arg1704Thr) c.206G>C (p.Arg69Thr) c.*4853G>C (n.*4853G>C) n.569G>C c.5222G>C (p.Arg1741Thr) c.5138G>C (p.Arg1713Thr) c.5108G>C (p.Arg1703Thr) c.5060G>C (p.Arg1687Thr) c.5021G>C (p.Arg1674Thr) c.4946G>C (p.Arg1649Thr) n.5493G>C c.5135G>C (p.Arg1712Thr) c.5105G>C (p.Arg1702Thr) c.5057G>C (p.Arg1686Thr) c.5024G>C (p.Arg1675Thr) c.4994G>C (p.Arg1665Thr) c.4991G>C (p.Arg1664Thr) c.4943G>C (p.Arg1648Thr) c.4907G>C (p.Arg1636Thr) c.4904G>C (p.Arg1635Thr) c.4859G>C (p.Arg1620Thr) n.5450G>C | dbSNP |
| X | g.77620442C>T | CA256047 | ATRX | c.5225G>A (p.Arg1742Lys) c.323G>A (p.Arg108Lys) n.960G>A c.5111G>A (p.Arg1704Lys) c.206G>A (p.Arg69Lys) c.*4853G>A (n.*4853G>A) n.569G>A c.5222G>A (p.Arg1741Lys) c.5138G>A (p.Arg1713Lys) c.5108G>A (p.Arg1703Lys) c.5060G>A (p.Arg1687Lys) c.5021G>A (p.Arg1674Lys) c.4946G>A (p.Arg1649Lys) n.5493G>A c.5135G>A (p.Arg1712Lys) c.5105G>A (p.Arg1702Lys) c.5057G>A (p.Arg1686Lys) c.5024G>A (p.Arg1675Lys) c.4994G>A (p.Arg1665Lys) c.4991G>A (p.Arg1664Lys) c.4943G>A (p.Arg1648Lys) c.4907G>A (p.Arg1636Lys) c.4904G>A (p.Arg1635Lys) c.4859G>A (p.Arg1620Lys) n.5450G>A | ClinVar dbSNP |
| X | g.77620442C>A | CA413701415 | ATRX | c.5225G>T (p.Arg1742Met) c.323G>T (p.Arg108Met) n.960G>T c.5111G>T (p.Arg1704Met) c.206G>T (p.Arg69Met) c.*4853G>T (n.*4853G>T) n.569G>T c.5222G>T (p.Arg1741Met) c.5138G>T (p.Arg1713Met) c.5108G>T (p.Arg1703Met) c.5060G>T (p.Arg1687Met) c.5021G>T (p.Arg1674Met) c.4946G>T (p.Arg1649Met) n.5493G>T c.5135G>T (p.Arg1712Met) c.5105G>T (p.Arg1702Met) c.5057G>T (p.Arg1686Met) c.5024G>T (p.Arg1675Met) c.4994G>T (p.Arg1665Met) c.4991G>T (p.Arg1664Met) c.4943G>T (p.Arg1648Met) c.4907G>T (p.Arg1636Met) c.4904G>T (p.Arg1635Met) c.4859G>T (p.Arg1620Met) n.5450G>T | dbSNP |