| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56885328del | CA2633373967 | SLC12A3 | c.1889del (p.Gly630AlafsTer?) c.1886del (p.Gly629AlafsTer?) | gnomAD v4 |
| 16 | g.56885328G>A | CA395991567 | SLC12A3 | c.1889G>A (p.Gly630Asp) c.1886G>A (p.Gly629Asp) | gnomAD v4 |
| 16 | g.56885328G>C | CA395991569 | SLC12A3 | c.1889G>C (p.Gly630Ala) c.1886G>C (p.Gly629Ala) | |
| 16 | g.56885328G= | CA2224356674 | SLC12A3 | c.1889G= (p.Gly630=) c.1886G= (p.Gly629=) | |
| 16 | g.56885328G>T | CA119778 | SLC12A3 | c.1889G>T (p.Gly630Val) c.1886G>T (p.Gly629Val) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56885329C>A | CA495604654 | SLC12A3 | c.1890C>A (p.Gly630=) c.1887C>A (p.Gly629=) | gnomAD v4 |
| 16 | g.56885329C>G | CA495604655 | SLC12A3 | c.1890C>G (p.Gly630=) c.1887C>G (p.Gly629=) | |
| 16 | g.56885329C>T | CA495604656 | SLC12A3 | c.1890C>T (p.Gly630=) c.1887C>T (p.Gly629=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56885330C>A | CA395991577 | SLC12A3 | c.1891C>A (p.Leu631Ile) c.1888C>A (p.Leu630Ile) | gnomAD v4 |
| 16 | g.56885330C= | CA2224356675 | SLC12A3 | c.1891C= (p.Leu631=) c.1888C= (p.Leu630=) | |
| 16 | g.56885330C>G | CA395991572 | SLC12A3 | c.1891C>G (p.Leu631Val) c.1888C>G (p.Leu630Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885330C>T | CA395991574 | SLC12A3 | c.1891C>T (p.Leu631Phe) c.1888C>T (p.Leu630Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56885331_56885332del | CA2515147690 | SLC12A3 | c.1892_1893del (p.Leu631GlnfsTer2) c.1889_1890del (p.Leu630GlnfsTer2) | |
| 16 | g.56885331T>A | CA395991579 | SLC12A3 | c.1892T>A (p.Leu631His) c.1889T>A (p.Leu630His) | gnomAD v4 |
| 16 | g.56885331T>C | CA395991581 | SLC12A3 | c.1892T>C (p.Leu631Pro) c.1889T>C (p.Leu630Pro) | gnomAD v4 |
| 16 | g.56885331T>G | CA395991583 | SLC12A3 | c.1892T>G (p.Leu631Arg) c.1889T>G (p.Leu630Arg) | gnomAD v4 |
| 16 | g.56885332C>A | CA495604657 | SLC12A3 | c.1893C>A (p.Leu631=) c.1890C>A (p.Leu630=) | gnomAD v4 |
| 16 | g.56885332C>G | CA495604658 | SLC12A3 | c.1893C>G (p.Leu631=) c.1890C>G (p.Leu630=) | |
| 16 | g.56885332C>T | CA495604659 | SLC12A3 | c.1893C>T (p.Leu631=) c.1890C>T (p.Leu630=) | gnomAD v4 |
| 16 | g.56885333A= | CA2224356676 | SLC12A3 | c.1894A= (p.Asn632=) c.1891A= (p.Asn631=) | |
| 16 | g.56885333A>C | CA395991586 | SLC12A3 | c.1894A>C (p.Asn632His) c.1891A>C (p.Asn631His) | |
| 16 | g.56885333A>G | CA8069648 | SLC12A3 | c.1894A>G (p.Asn632Asp) c.1891A>G (p.Asn631Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56885333A>T | CA395991588 | SLC12A3 | c.1894A>T (p.Asn632Tyr) c.1891A>T (p.Asn631Tyr) | |
| 16 | g.56885334A= | CA2224356677 | SLC12A3 | c.1895A= (p.Asn632=) c.1892A= (p.Asn631=) | |
| 16 | g.56885334A>C | CA395991592 | SLC12A3 | c.1895A>C (p.Asn632Thr) c.1892A>C (p.Asn631Thr) | |
| 16 | g.56885334A>G | CA281505357 | SLC12A3 | c.1895A>G (p.Asn632Ser) c.1892A>G (p.Asn631Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56885334A>T | CA395991594 | SLC12A3 | c.1895A>T (p.Asn632Ile) c.1892A>T (p.Asn631Ile) | |
| 16 | g.56885335T>A | CA395991597 | SLC12A3 | c.1896T>A (p.Asn632Lys) c.1893T>A (p.Asn631Lys) | gnomAD v4 |
| 16 | g.56885335T>C | CA495604660 | SLC12A3 | c.1896T>C (p.Asn632=) c.1893T>C (p.Asn631=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885335T>G | CA395991600 | SLC12A3 | c.1896T>G (p.Asn632Lys) c.1893T>G (p.Asn631Lys) | |
| 16 | g.56885335T= | CA2224356678 | SLC12A3 | c.1896T= (p.Asn632=) c.1893T= (p.Asn631=) | |
| 16 | g.56885336G>A | CA395991602 | SLC12A3 | c.1897G>A (p.Glu633Lys) c.1894G>A (p.Glu632Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885336G>C | CA395991604 | SLC12A3 | c.1897G>C (p.Glu633Gln) c.1894G>C (p.Glu632Gln) | |
| 16 | g.56885336G= | CA2224356679 | SLC12A3 | c.1897G= (p.Glu633=) c.1894G= (p.Glu632=) | |
| 16 | g.56885336G>T | CA395991606 | SLC12A3 | c.1897G>T (p.Glu633Ter) c.1894G>T (p.Glu632Ter) | gnomAD v4 |
| 16 | g.56885336dup | CA2695223453 | SLC12A3 | c.1897dup (p.Glu633GlyfsTer?) c.1894dup (p.Glu632GlyfsTer?) | |
| 16 | g.56885337A= | CA2224356680 | SLC12A3 | c.1898A= (p.Glu633=) c.1895A= (p.Glu632=) | |
| 16 | g.56885337A>C | CA395991610 | SLC12A3 | c.1898A>C (p.Glu633Ala) c.1895A>C (p.Glu632Ala) | |
| 16 | g.56885337A>G | CA395991612 | SLC12A3 | c.1898A>G (p.Glu633Gly) c.1895A>G (p.Glu632Gly) | |
| 16 | g.56885337A>T | CA395991614 | SLC12A3 | c.1898A>T (p.Glu633Val) c.1895A>T (p.Glu632Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885338G>A | CA495604661 | SLC12A3 | c.1899G>A (p.Glu633=) c.1896G>A (p.Glu632=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885338G>C | CA395991616 | SLC12A3 | c.1899G>C (p.Glu633Asp) c.1896G>C (p.Glu632Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56885338G= | CA2224356681 | SLC12A3 | c.1899G= (p.Glu633=) c.1896G= (p.Glu632=) | |
| 16 | g.56885338G>T | CA395991617 | SLC12A3 | c.1899G>T (p.Glu633Asp) c.1896G>T (p.Glu632Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56885339G>A | CA395991621 | SLC12A3 | c.1900G>A (p.Val634Met) c.1897G>A (p.Val633Met) | gnomAD v4 |
| 16 | g.56885339G>C | CA395991623 | SLC12A3 | c.1900G>C (p.Val634Leu) c.1897G>C (p.Val633Leu) | |
| 16 | g.56885339G>T | CA395991625 | SLC12A3 | c.1900G>T (p.Val634Leu) c.1897G>T (p.Val633Leu) | |
| 16 | g.56885340T>A | CA395991630 | SLC12A3 | c.1901T>A (p.Val634Glu) c.1898T>A (p.Val633Glu) | |
| 16 | g.56885340T>C | CA395991632 | SLC12A3 | c.1901T>C (p.Val634Ala) c.1898T>C (p.Val633Ala) | |
| 16 | g.56885340T>G | CA395991628 | SLC12A3 | c.1901T>G (p.Val634Gly) c.1898T>G (p.Val633Gly) |