Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56885987_56887036del | CA915949274 | SLC12A3 | c.1926-377_2121del c.1923-377_2118del | ClinVar |
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=) | ClinVar |
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) | |
16 | g.56886379G>A | CA495604906 | SLC12A3 | c.1941G>A (p.Val647=) c.1938G>A (p.Val646=) | |
16 | g.56886379G>C | CA495604910 | SLC12A3 | c.1941G>C (p.Val647=) c.1938G>C (p.Val646=) | |
16 | g.56886379G>T | CA495604907 | SLC12A3 | c.1941G>T (p.Val647=) c.1938G>T (p.Val646=) | |
16 | g.56886380C>A | CA395992822 | SLC12A3 | c.1942C>A (p.Leu648Ile) c.1939C>A (p.Leu647Ile) | gnomAD v4 |
16 | g.56886380C= | CA2224357194 | SLC12A3 | c.1942C= (p.Leu648=) c.1939C= (p.Leu647=) | |
16 | g.56886380C>G | CA395992824 | SLC12A3 | c.1942C>G (p.Leu648Val) c.1939C>G (p.Leu647Val) | |
16 | g.56886380C>T | CA395992820 | SLC12A3 | c.1942C>T (p.Leu648Phe) c.1939C>T (p.Leu647Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886381T>A | CA395992826 | SLC12A3 | c.1943T>A (p.Leu648His) c.1940T>A (p.Leu647His) | |
16 | g.56886381T>C | CA395992829 | SLC12A3 | c.1943T>C (p.Leu648Pro) c.1940T>C (p.Leu647Pro) | |
16 | g.56886381T>G | CA395992831 | SLC12A3 | c.1943T>G (p.Leu648Arg) c.1940T>G (p.Leu647Arg) | |
16 | g.56886382C>A | CA495604918 | SLC12A3 | c.1944C>A (p.Leu648=) c.1941C>A (p.Leu647=) | |
16 | g.56886382C= | CA2224357195 | SLC12A3 | c.1944C= (p.Leu648=) c.1941C= (p.Leu647=) | |
16 | g.56886382C>G | CA495604919 | SLC12A3 | c.1944C>G (p.Leu648=) c.1941C>G (p.Leu647=) | |
16 | g.56886382C>T | CA8069669 | SLC12A3 | c.1944C>T (p.Leu648=) c.1941C>T (p.Leu647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886383A>C | CA395992840 | SLC12A3 | c.1945A>C (p.Thr649Pro) c.1942A>C (p.Thr648Pro) | |
16 | g.56886383A>G | CA395992838 | SLC12A3 | c.1945A>G (p.Thr649Ala) c.1942A>G (p.Thr648Ala) | gnomAD v4 |
16 | g.56886383A>T | CA395992836 | SLC12A3 | c.1945A>T (p.Thr649Ser) c.1942A>T (p.Thr648Ser) | |
16 | g.56886384C>A | CA395992843 | SLC12A3 | c.1946C>A (p.Thr649Lys) c.1943C>A (p.Thr648Lys) | |
16 | g.56886384C= | CA2224357196 | SLC12A3 | c.1946C= (p.Thr649=) c.1943C= (p.Thr648=) | |
16 | g.56886384C>G | CA395992845 | SLC12A3 | c.1946C>G (p.Thr649Arg) c.1943C>G (p.Thr648Arg) | gnomAD v4 |
16 | g.56886384C>T | CA8069670 | SLC12A3 | c.1946C>T (p.Thr649Met) c.1943C>T (p.Thr648Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886385G>A | CA8069671 | SLC12A3 | c.1947G>A (p.Thr649=) c.1944G>A (p.Thr648=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886385G>C | CA495604930 | SLC12A3 | c.1947G>C (p.Thr649=) c.1944G>C (p.Thr648=) | |
16 | g.56886385G= | CA2224357197 | SLC12A3 | c.1947G= (p.Thr649=) c.1944G= (p.Thr648=) | |
16 | g.56886385G>T | CA495604931 | SLC12A3 | c.1947G>T (p.Thr649=) c.1944G>T (p.Thr648=) | dbSNP |
16 | g.56886386G>A | CA395992851 | SLC12A3 | c.1948G>A (p.Gly650Arg) c.1945G>A (p.Gly649Arg) | COSMIC |
16 | g.56886386G>C | CA395992853 | SLC12A3 | c.1948G>C (p.Gly650Arg) c.1945G>C (p.Gly649Arg) | dbSNP |
16 | g.56886386G= | CA2224357198 | SLC12A3 | c.1948G= (p.Gly650=) c.1945G= (p.Gly649=) |