| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56885987_56887036del | CA915949274 | SLC12A3 | c.1926-377_2121del c.1923-377_2118del | ClinVar |
| 16 | g.56886362_56886367dup | CA8069664 | SLC12A3 | c.1926-2_1929dup c.1923-2_1926dup | dbSNP ExAC gnomAD v4 |
| 16 | g.56886368del | CA8069665 | SLC12A3 | c.1930del (p.Gln644SerfsTer28) c.1927del (p.Gln643SerfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56886365_56886370dup | CA2695223457 | SLC12A3 | c.1927_1932dup (p.Gln644_Cys645insProGln) c.1924_1929dup (p.Gln643_Cys644insProGln) | |
| 16 | g.56886366C>A | CA395992783 | SLC12A3 | c.1928C>A (p.Pro643His) c.1925C>A (p.Pro642His) | |
| 16 | g.56886366C= | CA2224357188 | SLC12A3 | c.1928C= (p.Pro643=) c.1925C= (p.Pro642=) | |
| 16 | g.56886366C>G | CA395992779 | SLC12A3 | c.1928C>G (p.Pro643Arg) c.1925C>G (p.Pro642Arg) | |
| 16 | g.56886366C>T | CA8069667 | SLC12A3 | c.1928C>T (p.Pro643Leu) c.1925C>T (p.Pro642Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56886367C>A | CA495604867 | SLC12A3 | c.1929C>A (p.Pro643=) c.1926C>A (p.Pro642=) | |
| 16 | g.56886367C= | CA2224357189 | SLC12A3 | c.1929C= (p.Pro643=) c.1926C= (p.Pro642=) | |
| 16 | g.56886367C>G | CA495604869 | SLC12A3 | c.1929C>G (p.Pro643=) c.1926C>G (p.Pro642=) | |
| 16 | g.56886367C>T | CA495604871 | SLC12A3 | c.1929C>T (p.Pro643=) c.1926C>T (p.Pro642=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56886368C>A | CA395992786 | SLC12A3 | c.1930C>A (p.Gln644Lys) c.1927C>A (p.Gln643Lys) | |
| 16 | g.56886368C>G | CA395992787 | SLC12A3 | c.1930C>G (p.Gln644Glu) c.1927C>G (p.Gln643Glu) | |
| 16 | g.56886368C>T | CA395992789 | SLC12A3 | c.1930C>T (p.Gln644Ter) c.1927C>T (p.Gln643Ter) | |
| 16 | g.56886369A= | CA2224357190 | SLC12A3 | c.1931A= (p.Gln644=) c.1928A= (p.Gln643=) | |
| 16 | g.56886369A>C | CA395992790 | SLC12A3 | c.1931A>C (p.Gln644Pro) c.1928A>C (p.Gln643Pro) | |
| 16 | g.56886369A>G | CA395992791 | SLC12A3 | c.1931A>G (p.Gln644Arg) c.1928A>G (p.Gln643Arg) | dbSNP |
| 16 | g.56886369A>T | CA395992792 | SLC12A3 | c.1931A>T (p.Gln644Leu) c.1928A>T (p.Gln643Leu) | |
| 16 | g.56886370G>A | CA8069668 | SLC12A3 | c.1932G>A (p.Gln644=) c.1929G>A (p.Gln643=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56886370G>C | CA395992793 | SLC12A3 | c.1932G>C (p.Gln644His) c.1929G>C (p.Gln643His) | |
| 16 | g.56886370G= | CA2224357191 | SLC12A3 | c.1932G= (p.Gln644=) c.1929G= (p.Gln643=) | |
| 16 | g.56886370G>T | CA395992794 | SLC12A3 | c.1932G>T (p.Gln644His) c.1929G>T (p.Gln643His) | |
| 16 | g.56886371T>A | CA395992795 | SLC12A3 | c.1933T>A (p.Cys645Ser) c.1930T>A (p.Cys644Ser) | |
| 16 | g.56886371T>C | CA395992796 | SLC12A3 | c.1933T>C (p.Cys645Arg) c.1930T>C (p.Cys644Arg) | gnomAD v4 |
| 16 | g.56886371T>G | CA395992797 | SLC12A3 | c.1933T>G (p.Cys645Gly) c.1930T>G (p.Cys644Gly) | |
| 16 | g.56886372G>A | CA395992800 | SLC12A3 | c.1934G>A (p.Cys645Tyr) c.1931G>A (p.Cys644Tyr) | COSMIC |
| 16 | g.56886372G>C | CA395992799 | SLC12A3 | c.1934G>C (p.Cys645Ser) c.1931G>C (p.Cys644Ser) | |
| 16 | g.56886372G>T | CA395992798 | SLC12A3 | c.1934G>T (p.Cys645Phe) c.1931G>T (p.Cys644Phe) | |
| 16 | g.56886373C>A | CA395992802 | SLC12A3 | c.1935C>A (p.Cys645Ter) c.1932C>A (p.Cys644Ter) | |
| 16 | g.56886373C= | CA2224357192 | SLC12A3 | c.1935C= (p.Cys645=) c.1932C= (p.Cys644=) | |
| 16 | g.56886373C>G | CA395992801 | SLC12A3 | c.1935C>G (p.Cys645Trp) c.1932C>G (p.Cys644Trp) | |
| 16 | g.56886373C>T | CA495604885 | SLC12A3 | c.1935C>T (p.Cys645=) c.1932C>T (p.Cys644=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56886374C>A | CA395992803 | SLC12A3 | c.1936C>A (p.Leu646Met) c.1933C>A (p.Leu645Met) | |
| 16 | g.56886374C>G | CA395992804 | SLC12A3 | c.1936C>G (p.Leu646Val) c.1933C>G (p.Leu645Val) | |
| 16 | g.56886374C>T | CA495604891 | SLC12A3 | c.1936C>T (p.Leu646=) c.1933C>T (p.Leu645=) | |
| 16 | g.56886375T>A | CA395992805 | SLC12A3 | c.1937T>A (p.Leu646Gln) c.1934T>A (p.Leu645Gln) | |
| 16 | g.56886375T>C | CA395992807 | SLC12A3 | c.1937T>C (p.Leu646Pro) c.1934T>C (p.Leu645Pro) | |
| 16 | g.56886375T>G | CA395992810 | SLC12A3 | c.1937T>G (p.Leu646Arg) c.1934T>G (p.Leu645Arg) | |
| 16 | g.56886375_56886376delinsTG | CA2224357193 | SLC12A3 | c.1937_1938delinsTG (p.Leu646=) c.1934_1935delinsTG (p.Leu645=) | |
| 16 | g.56886376G>A | CA495604900 | SLC12A3 | c.1938G>A (p.Leu646=) c.1935G>A (p.Leu645=) | |
| 16 | g.56886376G>C | CA495604898 | SLC12A3 | c.1938G>C (p.Leu646=) c.1935G>C (p.Leu645=) | |
| 16 | g.56886376G>T | CA495604897 | SLC12A3 | c.1938G>T (p.Leu646=) c.1935G>T (p.Leu645=) | |
| 16 | g.56886377del | CA721937193 | SLC12A3 | c.1939del (p.Val647CysfsTer25) c.1936del (p.Val646CysfsTer25) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56886377G>A | CA395992812 | SLC12A3 | c.1939G>A (p.Val647Met) c.1936G>A (p.Val646Met) | |
| 16 | g.56886377G>C | CA395992814 | SLC12A3 | c.1939G>C (p.Val647Leu) c.1936G>C (p.Val646Leu) | |
| 16 | g.56886377G>T | CA395992815 | SLC12A3 | c.1939G>T (p.Val647Leu) c.1936G>T (p.Val646Leu) | |
| 16 | g.56886378T>A | CA395992816 | SLC12A3 | c.1940T>A (p.Val647Glu) c.1937T>A (p.Val646Glu) | |
| 16 | g.56886378T>C | CA395992817 | SLC12A3 | c.1940T>C (p.Val647Ala) c.1937T>C (p.Val646Ala) | |
| 16 | g.56886378T>G | CA395992818 | SLC12A3 | c.1940T>G (p.Val647Gly) c.1937T>G (p.Val646Gly) |