| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69228107C>T | CA465245202 | TJP2 | c.1446C>T (p.Asp482=) c.1458C>T (p.Asp486=) c.1539C>T (p.Asp513=) n.1525C>T c.1623C>T (p.Asp541=) c.1833C>T (p.Asp611=) c.*1634C>T (n.*1634C>T) c.*1753C>T (n.*1753C>T) c.1377C>T (p.Asp459=) c.155C>T n.1763C>T n.1470C>T c.1449C>T (p.Asp483=) c.719C>T n.977-1077C>T c.1440C>T (p.Asp480=) c.1371C>T (p.Asp457=) | dbSNP gnomAD v4 |
| 9 | g.69228107C>A | CA133540 | TJP2 | c.1446C>A (p.Asp482Glu) c.1458C>A (p.Asp486Glu) c.1539C>A (p.Asp513Glu) n.1525C>A c.1623C>A (p.Asp541Glu) c.1833C>A (p.Asp611Glu) c.*1634C>A (n.*1634C>A) c.*1753C>A (n.*1753C>A) c.1377C>A (p.Asp459Glu) c.155C>A n.1763C>A n.1470C>A c.1449C>A (p.Asp483Glu) c.719C>A n.977-1077C>A c.1440C>A (p.Asp480Glu) c.1371C>A (p.Asp457Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69228107C>G | CA373531496 | TJP2 | c.1446C>G (p.Asp482Glu) c.1458C>G (p.Asp486Glu) c.1539C>G (p.Asp513Glu) n.1525C>G c.1623C>G (p.Asp541Glu) c.1833C>G (p.Asp611Glu) c.*1634C>G (n.*1634C>G) c.*1753C>G (n.*1753C>G) c.1377C>G (p.Asp459Glu) c.155C>G n.1763C>G n.1470C>G c.1449C>G (p.Asp483Glu) c.719C>G n.977-1077C>G c.1440C>G (p.Asp480Glu) c.1371C>G (p.Asp457Glu) | dbSNP |