| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.153636464C>T | CA3110602 | TMEM131L | c.4721C>T (p.Pro1574Leu) c.4052C>T (p.Pro1351Leu) c.4718C>T (p.Pro1573Leu) c.2843C>T (p.Pro948Leu) c.4808C>T (p.Pro1603Leu) c.4805C>T (p.Pro1602Leu) c.4778C>T (p.Pro1593Leu) c.4556C>T (p.Pro1519Leu) c.4715C>T (p.Pro1572Leu) c.4775C>T (p.Pro1592Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.153636464C= | CA1504512193 | TMEM131L | c.4721C= (p.Pro1574=) c.4052C= (p.Pro1351=) c.4718C= (p.Pro1573=) c.2843C= (p.Pro948=) c.4808C= (p.Pro1603=) c.4805C= (p.Pro1602=) c.4778C= (p.Pro1593=) c.4556C= (p.Pro1519=) c.4715C= (p.Pro1572=) c.4775C= (p.Pro1592=) | dbSNP |