Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56885987_56887036del | CA915949274 | SLC12A3 | c.1926-377_2121del c.1923-377_2118del | ClinVar |
16 | g.56886402_56886403delinsGC | CA2224357210 | SLC12A3 | c.1964_1965delinsGC (p.Arg655=) c.1961_1962delinsGC (p.Arg654=) | |
16 | g.56886403C>A | CA495604984 | SLC12A3 | c.1965C>A (p.Arg655=) c.1962C>A (p.Arg654=) | |
16 | g.56886403C= | CA2224357211 | SLC12A3 | c.1965C= (p.Arg655=) c.1962C= (p.Arg654=) | |
16 | g.56886403C>G | CA495604986 | SLC12A3 | c.1965C>G (p.Arg655=) c.1962C>G (p.Arg654=) | |
16 | g.56886403C>T | CA8069674 | SLC12A3 | c.1965C>T (p.Arg655=) c.1962C>T (p.Arg654=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886405del | CA622338403 | SLC12A3 | c.1967del (p.Pro656ArgfsTer16) c.1964del (p.Pro655ArgfsTer16) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886404C>A | CA395992941 | SLC12A3 | c.1966C>A (p.Pro656Thr) c.1963C>A (p.Pro655Thr) | |
16 | g.56886404C>G | CA395992945 | SLC12A3 | c.1966C>G (p.Pro656Ala) c.1963C>G (p.Pro655Ala) | |
16 | g.56886404C>T | CA395992948 | SLC12A3 | c.1966C>T (p.Pro656Ser) c.1963C>T (p.Pro655Ser) | |
16 | g.56886405C>A | CA395992950 | SLC12A3 | c.1967C>A (p.Pro656Gln) c.1964C>A (p.Pro655Gln) | |
16 | g.56886405C= | CA2224357212 | SLC12A3 | c.1967C= (p.Pro656=) c.1964C= (p.Pro655=) | |
16 | g.56886405C>G | CA395992954 | SLC12A3 | c.1967C>G (p.Pro656Arg) c.1964C>G (p.Pro655Arg) | ClinVar |
16 | g.56886405C>T | CA8069675 | SLC12A3 | c.1967C>T (p.Pro656Leu) c.1964C>T (p.Pro655Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886406G>A | CA8069676 | SLC12A3 | c.1968G>A (p.Pro656=) c.1965G>A (p.Pro655=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886406G>C | CA495604994 | SLC12A3 | c.1968G>C (p.Pro656=) c.1965G>C (p.Pro655=) | gnomAD v4 |
16 | g.56886406G= | CA2224357213 | SLC12A3 | c.1968G= (p.Pro656=) c.1965G= (p.Pro655=) | |
16 | g.56886406G>T | CA495604996 | SLC12A3 | c.1968G>T (p.Pro656=) c.1965G>T (p.Pro655=) | COSMIC |
16 | g.56886407G>A | CA8069677 | SLC12A3 | c.1969G>A (p.Ala657Thr) c.1966G>A (p.Ala656Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886407G>C | CA395992961 | SLC12A3 | c.1969G>C (p.Ala657Pro) c.1966G>C (p.Ala656Pro) | |
16 | g.56886407G= | CA2224357214 | SLC12A3 | c.1969G= (p.Ala657=) c.1966G= (p.Ala656=) | |
16 | g.56886407G>T | CA395992964 | SLC12A3 | c.1969G>T (p.Ala657Ser) c.1966G>T (p.Ala656Ser) | |
16 | g.56886408C>A | CA8069678 | SLC12A3 | c.1970C>A (p.Ala657Asp) c.1967C>A (p.Ala656Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886408C= | CA2224357215 | SLC12A3 | c.1970C= (p.Ala657=) c.1967C= (p.Ala656=) | |
16 | g.56886408C>G | CA395992973 | SLC12A3 | c.1970C>G (p.Ala657Gly) c.1967C>G (p.Ala656Gly) | |
16 | g.56886408C>T | CA281508858 | SLC12A3 | c.1970C>T (p.Ala657Val) c.1967C>T (p.Ala656Val) | dbSNP gnomAD v4 |
16 | g.56886409C>A | CA495605004 | SLC12A3 | c.1971C>A (p.Ala657=) c.1968C>A (p.Ala656=) | |
16 | g.56886409C>G | CA495605001 | SLC12A3 | c.1971C>G (p.Ala657=) c.1968C>G (p.Ala656=) | |
16 | g.56886409C>T | CA495605002 | SLC12A3 | c.1971C>T (p.Ala657=) c.1968C>T (p.Ala656=) | ClinVar dbSNP |
16 | g.56886410C>A | CA395992977 | SLC12A3 | c.1972C>A (p.Leu658Met) c.1969C>A (p.Leu657Met) | |
16 | g.56886410C>G | CA395992979 | SLC12A3 | c.1972C>G (p.Leu658Val) c.1969C>G (p.Leu657Val) | gnomAD v4 |
16 | g.56886410C>T | CA495605007 | SLC12A3 | c.1972C>T (p.Leu658=) c.1969C>T (p.Leu657=) | |
16 | g.56886411del | CA2633374481 | SLC12A3 | c.1973del (p.Leu658ArgfsTer14) c.1970del (p.Leu657ArgfsTer14) | gnomAD v4 |
16 | g.56886411T>A | CA395992983 | SLC12A3 | c.1973T>A (p.Leu658Gln) c.1970T>A (p.Leu657Gln) | |
16 | g.56886411T>C | CA395992986 | SLC12A3 | c.1973T>C (p.Leu658Pro) c.1970T>C (p.Leu657Pro) | |
16 | g.56886411T>G | CA395992989 | SLC12A3 | c.1973T>G (p.Leu658Arg) c.1970T>G (p.Leu657Arg) | |
16 | g.56886412G>A | CA495605010 | SLC12A3 | c.1974G>A (p.Leu658=) c.1971G>A (p.Leu657=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886412G>C | CA495605012 | SLC12A3 | c.1974G>C (p.Leu658=) c.1971G>C (p.Leu657=) | |
16 | g.56886412G= | CA2224357216 | SLC12A3 | c.1974G= (p.Leu658=) c.1971G= (p.Leu657=) | |
16 | g.56886412G>T | CA495605013 | SLC12A3 | c.1974G>T (p.Leu658=) c.1971G>T (p.Leu657=) | |
16 | g.56886413G>A | CA395992994 | SLC12A3 | c.1975G>A (p.Val659Met) c.1972G>A (p.Val658Met) | dbSNP |
16 | g.56886413G>C | CA395992997 | SLC12A3 | c.1975G>C (p.Val659Leu) c.1972G>C (p.Val658Leu) | |
16 | g.56886413G= | CA2224357217 | SLC12A3 | c.1975G= (p.Val659=) c.1972G= (p.Val658=) | |
16 | g.56886413G>T | CA395993000 | SLC12A3 | c.1975G>T (p.Val659Leu) c.1972G>T (p.Val658Leu) | |
16 | g.56886414T>A | CA395993004 | SLC12A3 | c.1976T>A (p.Val659Glu) c.1973T>A (p.Val658Glu) | gnomAD v4 |
16 | g.56886414T>C | CA395993008 | SLC12A3 | c.1976T>C (p.Val659Ala) c.1973T>C (p.Val658Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886414T>G | CA395993009 | SLC12A3 | c.1976T>G (p.Val659Gly) c.1973T>G (p.Val658Gly) | |
16 | g.56886414T= | CA2224357218 | SLC12A3 | c.1976T= (p.Val659=) c.1973T= (p.Val658=) | |
16 | g.56886415G>A | CA495605020 | SLC12A3 | c.1977G>A (p.Val659=) c.1974G>A (p.Val658=) | |
16 | g.56886415G>C | CA495605024 | SLC12A3 | c.1977G>C (p.Val659=) c.1974G>C (p.Val658=) | |
16 | g.56886415G>T | CA495605022 | SLC12A3 | c.1977G>T (p.Val659=) c.1974G>T (p.Val658=) | |
16 | g.56886415_56886416delinsAA | CA645585194 | SLC12A3 | c.1977_1978delinsAA (p.Asp660Asn) c.1974_1975delinsAA (p.Asp659Asn) | COSMIC |
16 | g.56886416G>A | CA395993015 | SLC12A3 | c.1978G>A (p.Asp660Asn) c.1975G>A (p.Asp659Asn) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886416G>C | CA395993020 | SLC12A3 | c.1978G>C (p.Asp660His) c.1975G>C (p.Asp659His) | |
16 | g.56886416G= | CA2224357219 | SLC12A3 | c.1978G= (p.Asp660=) c.1975G= (p.Asp659=) | |
16 | g.56886416G>T | CA395993017 | SLC12A3 | c.1978G>T (p.Asp660Tyr) c.1975G>T (p.Asp659Tyr) | |
16 | g.56886417A>C | CA395993023 | SLC12A3 | c.1979A>C (p.Asp660Ala) c.1976A>C (p.Asp659Ala) | |
16 | g.56886417A>G | CA395993029 | SLC12A3 | c.1979A>G (p.Asp660Gly) c.1976A>G (p.Asp659Gly) | |
16 | g.56886417A>T | CA395993027 | SLC12A3 | c.1979A>T (p.Asp660Val) c.1976A>T (p.Asp659Val) | |
16 | g.56886418C>A | CA395993032 | SLC12A3 | c.1980C>A (p.Asp660Glu) c.1977C>A (p.Asp659Glu) | |
16 | g.56886418C= | CA2224357220 | SLC12A3 | c.1980C= (p.Asp660=) c.1977C= (p.Asp659=) | |
16 | g.56886418C>G | CA395993045 | SLC12A3 | c.1980C>G (p.Asp660Glu) c.1977C>G (p.Asp659Glu) | |
16 | g.56886418C>T | CA8069679 | SLC12A3 | c.1980C>T (p.Asp660=) c.1977C>T (p.Asp659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886419T>A | CA395993048 | SLC12A3 | c.1981T>A (p.Phe661Ile) c.1978T>A (p.Phe660Ile) | |
16 | g.56886419T>C | CA395993054 | SLC12A3 | c.1981T>C (p.Phe661Leu) c.1978T>C (p.Phe660Leu) | |
16 | g.56886419T>G | CA395993052 | SLC12A3 | c.1981T>G (p.Phe661Val) c.1978T>G (p.Phe660Val) | |
16 | g.56886420T>A | CA395993060 | SLC12A3 | c.1982T>A (p.Phe661Tyr) c.1979T>A (p.Phe660Tyr) | |
16 | g.56886420T>C | CA395993064 | SLC12A3 | c.1982T>C (p.Phe661Ser) c.1979T>C (p.Phe660Ser) | |
16 | g.56886420T>G | CA395993067 | SLC12A3 | c.1982T>G (p.Phe661Cys) c.1979T>G (p.Phe660Cys) | |
16 | g.56886421T>A | CA395993070 | SLC12A3 | c.1983T>A (p.Phe661Leu) c.1980T>A (p.Phe660Leu) | |
16 | g.56886421T>C | CA495605039 | SLC12A3 | c.1983T>C (p.Phe661=) c.1980T>C (p.Phe660=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886421T>G | CA395993073 | SLC12A3 | c.1983T>G (p.Phe661Leu) c.1980T>G (p.Phe660Leu) | |
16 | g.56886421T= | CA2224357221 | SLC12A3 | c.1983T= (p.Phe661=) c.1980T= (p.Phe660=) | |
16 | g.56886422G>A | CA395993079 | SLC12A3 | c.1984G>A (p.Val662Met) c.1981G>A (p.Val661Met) | |
16 | g.56886422G>C | CA395993082 | SLC12A3 | c.1984G>C (p.Val662Leu) c.1981G>C (p.Val661Leu) | |
16 | g.56886422G>T | CA395993086 | SLC12A3 | c.1984G>T (p.Val662Leu) c.1981G>T (p.Val661Leu) | |
16 | g.56886423T>A | CA395993091 | SLC12A3 | c.1985T>A (p.Val662Glu) c.1982T>A (p.Val661Glu) | |
16 | g.56886423T>C | CA395993094 | SLC12A3 | c.1985T>C (p.Val662Ala) c.1982T>C (p.Val661Ala) | gnomAD v4 |
16 | g.56886423T>G | CA395993096 | SLC12A3 | c.1985T>G (p.Val662Gly) c.1982T>G (p.Val661Gly) | |
16 | g.56886424G>A | CA495605046 | SLC12A3 | c.1986G>A (p.Val662=) c.1983G>A (p.Val661=) | ClinVar |
16 | g.56886424G>C | CA495605047 | SLC12A3 | c.1986G>C (p.Val662=) c.1983G>C (p.Val661=) | |
16 | g.56886424G>T | CA495605049 | SLC12A3 | c.1986G>T (p.Val662=) c.1983G>T (p.Val661=) | |
16 | g.56886425G>A | CA395993102 | SLC12A3 | c.1987G>A (p.Gly663Ser) c.1984G>A (p.Gly662Ser) | |
16 | g.56886425G>C | CA395993108 | SLC12A3 | c.1987G>C (p.Gly663Arg) c.1984G>C (p.Gly662Arg) | |
16 | g.56886425G>T | CA395993105 | SLC12A3 | c.1987G>T (p.Gly663Cys) c.1984G>T (p.Gly662Cys) | |
16 | g.56886426G>A | CA8069680 | SLC12A3 | c.1988G>A (p.Gly663Asp) c.1985G>A (p.Gly662Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886426G>C | CA395993113 | SLC12A3 | c.1988G>C (p.Gly663Ala) c.1985G>C (p.Gly662Ala) | |
16 | g.56886426G= | CA2224357222 | SLC12A3 | c.1988G= (p.Gly663=) c.1985G= (p.Gly662=) | |
16 | g.56886426G>T | CA395993115 | SLC12A3 | c.1988G>T (p.Gly663Val) c.1985G>T (p.Gly662Val) | |
16 | g.56886427C>A | CA495605056 | SLC12A3 | c.1989C>A (p.Gly663=) c.1986C>A (p.Gly662=) | ClinVar |
16 | g.56886427C>G | CA495605058 | SLC12A3 | c.1989C>G (p.Gly663=) c.1986C>G (p.Gly662=) | |
16 | g.56886427C>T | CA495605059 | SLC12A3 | c.1989C>T (p.Gly663=) c.1986C>T (p.Gly662=) | |
16 | g.56886428A>C | CA395993118 | SLC12A3 | c.1990A>C (p.Thr664Pro) c.1987A>C (p.Thr663Pro) | |
16 | g.56886428A>G | CA395993121 | SLC12A3 | c.1990A>G (p.Thr664Ala) c.1987A>G (p.Thr663Ala) | |
16 | g.56886428A>T | CA395993123 | SLC12A3 | c.1990A>T (p.Thr664Ser) c.1987A>T (p.Thr663Ser) | |
16 | g.56886429C>A | CA395993127 | SLC12A3 | c.1991C>A (p.Thr664Asn) c.1988C>A (p.Thr663Asn) | |
16 | g.56886429C>G | CA395993130 | SLC12A3 | c.1991C>G (p.Thr664Ser) c.1988C>G (p.Thr663Ser) | |
16 | g.56886429C>T | CA395993135 | SLC12A3 | c.1991C>T (p.Thr664Ile) c.1988C>T (p.Thr663Ile) | gnomAD v4 |
16 | g.56886430del | CA658653644 | SLC12A3 | c.1992del (p.Phe665SerfsTer7) c.1989del (p.Phe664SerfsTer7) | |
16 | g.56886430C>A | CA495605068 | SLC12A3 | c.1992C>A (p.Thr664=) c.1989C>A (p.Thr663=) | |
16 | g.56886430C>G | CA495605065 | SLC12A3 | c.1992C>G (p.Thr664=) c.1989C>G (p.Thr663=) | COSMIC |
16 | g.56886430C>T | CA495605066 | SLC12A3 | c.1992C>T (p.Thr664=) c.1989C>T (p.Thr663=) | gnomAD v4 |
16 | g.56886431T>A | CA395993149 | SLC12A3 | c.1993T>A (p.Phe665Ile) c.1990T>A (p.Phe664Ile) | |
16 | g.56886431T>C | CA395993151 | SLC12A3 | c.1993T>C (p.Phe665Leu) c.1990T>C (p.Phe664Leu) | |
16 | g.56886431T>G | CA395993140 | SLC12A3 | c.1993T>G (p.Phe665Val) c.1990T>G (p.Phe664Val) | |
16 | g.56886432T>A | CA395993156 | SLC12A3 | c.1994T>A (p.Phe665Tyr) c.1991T>A (p.Phe664Tyr) | |
16 | g.56886432T>C | CA395993159 | SLC12A3 | c.1994T>C (p.Phe665Ser) c.1991T>C (p.Phe664Ser) | |
16 | g.56886432T>G | CA395993162 | SLC12A3 | c.1994T>G (p.Phe665Cys) c.1991T>G (p.Phe664Cys) | |
16 | g.56886433C>A | CA395993165 | SLC12A3 | c.1995C>A (p.Phe665Leu) c.1992C>A (p.Phe664Leu) | gnomAD v4 |
16 | g.56886433C= | CA2224357223 | SLC12A3 | c.1995C= (p.Phe665=) c.1992C= (p.Phe664=) | |
16 | g.56886433C>G | CA395993168 | SLC12A3 | c.1995C>G (p.Phe665Leu) c.1992C>G (p.Phe664Leu) | |
16 | g.56886433C>T | CA495605075 | SLC12A3 | c.1995C>T (p.Phe665=) c.1992C>T (p.Phe664=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886434A= | CA2224357224 | SLC12A3 | c.1996A= (p.Thr666=) c.1993A= (p.Thr665=) | |
16 | g.56886434A>C | CA395993179 | SLC12A3 | c.1996A>C (p.Thr666Pro) c.1993A>C (p.Thr665Pro) | |
16 | g.56886434A>G | CA395993173 | SLC12A3 | c.1996A>G (p.Thr666Ala) c.1993A>G (p.Thr665Ala) | gnomAD v4 |
16 | g.56886434A>T | CA395993176 | SLC12A3 | c.1996A>T (p.Thr666Ser) c.1993A>T (p.Thr665Ser) | dbSNP |
16 | g.56886435C>A | CA395993183 | SLC12A3 | c.1997C>A (p.Thr666Asn) c.1994C>A (p.Thr665Asn) | |
16 | g.56886435C>G | CA395993186 | SLC12A3 | c.1997C>G (p.Thr666Ser) c.1994C>G (p.Thr665Ser) | |
16 | g.56886435C>T | CA395993190 | SLC12A3 | c.1997C>T (p.Thr666Ile) c.1994C>T (p.Thr665Ile) | |
16 | g.56886437del | CA2580091675 | SLC12A3 | c.1999del (p.Arg667GlyfsTer5) c.1996del (p.Arg666GlyfsTer5) | ClinVar |
16 | g.56886436C>A | CA495605080 | SLC12A3 | c.1998C>A (p.Thr666=) c.1995C>A (p.Thr665=) | |
16 | g.56886436C>G | CA495605082 | SLC12A3 | c.1998C>G (p.Thr666=) c.1995C>G (p.Thr665=) | |
16 | g.56886436C>T | CA495605084 | SLC12A3 | c.1998C>T (p.Thr666=) c.1995C>T (p.Thr665=) | ClinVar dbSNP gnomAD v4 |
16 | g.56886437C>A | CA495605086 | SLC12A3 | c.1999C>A (p.Arg667=) c.1996C>A (p.Arg666=) | |
16 | g.56886437C= | CA2224357225 | SLC12A3 | c.1999C= (p.Arg667=) c.1996C= (p.Arg666=) | |
16 | g.56886437C>G | CA395993193 | SLC12A3 | c.1999C>G (p.Arg667Gly) c.1996C>G (p.Arg666Gly) | |
16 | g.56886437C>T | CA8069681 | SLC12A3 | c.1999C>T (p.Arg667Trp) c.1996C>T (p.Arg666Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886438G>A | CA8069682 | SLC12A3 | c.2000G>A (p.Arg667Gln) c.1997G>A (p.Arg666Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886438G>C | CA395993209 | SLC12A3 | c.2000G>C (p.Arg667Pro) c.1997G>C (p.Arg666Pro) | |
16 | g.56886438G= | CA2224357226 | SLC12A3 | c.2000G= (p.Arg667=) c.1997G= (p.Arg666=) | |
16 | g.56886438G>T | CA395993202 | SLC12A3 | c.2000G>T (p.Arg667Leu) c.1997G>T (p.Arg666Leu) | |
16 | g.56886439G>A | CA495605091 | SLC12A3 | c.2001G>A (p.Arg667=) c.1998G>A (p.Arg666=) | |
16 | g.56886439G>C | CA495605093 | SLC12A3 | c.2001G>C (p.Arg667=) c.1998G>C (p.Arg666=) | gnomAD v4 |
16 | g.56886439G>T | CA495605095 | SLC12A3 | c.2001G>T (p.Arg667=) c.1998G>T (p.Arg666=) | |
16 | g.56886440A= | CA2224357227 | SLC12A3 | c.2002A= (p.Asn668=) c.1999A= (p.Asn667=) | |
16 | g.56886440A>C | CA8069683 | SLC12A3 | c.2002A>C (p.Asn668His) c.1999A>C (p.Asn667His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886440A>G | CA395993214 | SLC12A3 | c.2002A>G (p.Asn668Asp) c.1999A>G (p.Asn667Asp) | |
16 | g.56886440A>T | CA395993217 | SLC12A3 | c.2002A>T (p.Asn668Tyr) c.1999A>T (p.Asn667Tyr) | |
16 | g.56886441A= | CA2224357228 | SLC12A3 | c.2003A= (p.Asn668=) c.2000A= (p.Asn667=) | |
16 | g.56886441A>C | CA395993222 | SLC12A3 | c.2003A>C (p.Asn668Thr) c.2000A>C (p.Asn667Thr) | |
16 | g.56886441A>G | CA281508889 | SLC12A3 | c.2003A>G (p.Asn668Ser) c.2000A>G (p.Asn667Ser) | dbSNP |
16 | g.56886441A>T | CA395993227 | SLC12A3 | c.2003A>T (p.Asn668Ile) c.2000A>T (p.Asn667Ile) | |
16 | g.56886442C>A | CA395993231 | SLC12A3 | c.2004C>A (p.Asn668Lys) c.2001C>A (p.Asn667Lys) | |
16 | g.56886442C>G | CA395993233 | SLC12A3 | c.2004C>G (p.Asn668Lys) c.2001C>G (p.Asn667Lys) | |
16 | g.56886442C>T | CA495605102 | SLC12A3 | c.2004C>T (p.Asn668=) c.2001C>T (p.Asn667=) | |
16 | g.56886443C>A | CA395993237 | SLC12A3 | c.2005C>A (p.Leu669Ile) c.2002C>A (p.Leu668Ile) | |
16 | g.56886443C= | CA2224357229 | SLC12A3 | c.2005C= (p.Leu669=) c.2002C= (p.Leu668=) | |
16 | g.56886443C>G | CA395993241 | SLC12A3 | c.2005C>G (p.Leu669Val) c.2002C>G (p.Leu668Val) | gnomAD v4 |
16 | g.56886443C>T | CA8069684 | SLC12A3 | c.2005C>T (p.Leu669Phe) c.2002C>T (p.Leu668Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886444T>A | CA395993253 | SLC12A3 | c.2006T>A (p.Leu669His) c.2003T>A (p.Leu668His) | gnomAD v4 |
16 | g.56886444T>C | CA395993256 | SLC12A3 | c.2006T>C (p.Leu669Pro) c.2003T>C (p.Leu668Pro) | |
16 | g.56886444T>G | CA395993250 | SLC12A3 | c.2006T>G (p.Leu669Arg) c.2003T>G (p.Leu668Arg) | |
16 | g.56886445C>A | CA495605108 | SLC12A3 | c.2007C>A (p.Leu669=) c.2004C>A (p.Leu668=) | |
16 | g.56886445C= | CA2224357230 | SLC12A3 | c.2007C= (p.Leu669=) c.2004C= (p.Leu668=) | |
16 | g.56886445C>G | CA495605109 | SLC12A3 | c.2007C>G (p.Leu669=) c.2004C>G (p.Leu668=) | |
16 | g.56886445C>T | CA495605111 | SLC12A3 | c.2007C>T (p.Leu669=) c.2004C>T (p.Leu668=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886446A= | CA2224357231 | SLC12A3 | c.2008A= (p.Ser670=) c.2005A= (p.Ser669=) | |
16 | g.56886446A>C | CA395993267 | SLC12A3 | c.2008A>C (p.Ser670Arg) c.2005A>C (p.Ser669Arg) | |
16 | g.56886446A>G | CA8069685 | SLC12A3 | c.2008A>G (p.Ser670Gly) c.2005A>G (p.Ser669Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886446A>T | CA395993263 | SLC12A3 | c.2008A>T (p.Ser670Cys) c.2005A>T (p.Ser669Cys) | |
16 | g.56886447G>A | CA395993271 | SLC12A3 | c.2009G>A (p.Ser670Asn) c.2006G>A (p.Ser669Asn) | |
16 | g.56886447G>C | CA395993273 | SLC12A3 | c.2009G>C (p.Ser670Thr) c.2006G>C (p.Ser669Thr) | |
16 | g.56886447G>T | CA395993275 | SLC12A3 | c.2009G>T (p.Ser670Ile) c.2006G>T (p.Ser669Ile) | |
16 | g.56886448C>A | CA395993279 | SLC12A3 | c.2010C>A (p.Ser670Arg) c.2007C>A (p.Ser669Arg) | |
16 | g.56886448C>G | CA395993282 | SLC12A3 | c.2010C>G (p.Ser670Arg) c.2007C>G (p.Ser669Arg) | |
16 | g.56886448C>T | CA495605119 | SLC12A3 | c.2010C>T (p.Ser670=) c.2007C>T (p.Ser669=) | |
16 | g.56886449C>A | CA395993286 | SLC12A3 | c.2011C>A (p.Leu671Met) c.2008C>A (p.Leu670Met) | |
16 | g.56886449C>G | CA395993289 | SLC12A3 | c.2011C>G (p.Leu671Val) c.2008C>G (p.Leu670Val) | |
16 | g.56886449C>T | CA495605122 | SLC12A3 | c.2011C>T (p.Leu671=) c.2008C>T (p.Leu670=) | ClinVar dbSNP gnomAD v4 |
16 | g.56886450T>A | CA395993293 | SLC12A3 | c.2012T>A (p.Leu671Gln) c.2009T>A (p.Leu670Gln) | |
16 | g.56886450T>C | CA395993297 | SLC12A3 | c.2012T>C (p.Leu671Pro) c.2009T>C (p.Leu670Pro) | |
16 | g.56886450T>G | CA395993299 | SLC12A3 | c.2012T>G (p.Leu671Arg) c.2009T>G (p.Leu670Arg) | |
16 | g.56886451G>A | CA495605130 | SLC12A3 | c.2013G>A (p.Leu671=) c.2010G>A (p.Leu670=) | |
16 | g.56886451G>C | CA495605126 | SLC12A3 | c.2013G>C (p.Leu671=) c.2010G>C (p.Leu670=) | |
16 | g.56886451G>T | CA495605128 | SLC12A3 | c.2013G>T (p.Leu671=) c.2010G>T (p.Leu670=) | |
16 | g.56886452A>C | CA395993308 | SLC12A3 | c.2014A>C (p.Met672Leu) c.2011A>C (p.Met671Leu) | |
16 | g.56886452A>G | CA395993302 | SLC12A3 | c.2014A>G (p.Met672Val) c.2011A>G (p.Met671Val) | |
16 | g.56886452A>T | CA395993305 | SLC12A3 | c.2014A>T (p.Met672Leu) c.2011A>T (p.Met671Leu) | |
16 | g.56886453T>A | CA395993312 | SLC12A3 | c.2015T>A (p.Met672Lys) c.2012T>A (p.Met671Lys) | gnomAD v4 |
16 | g.56886453T>C | CA395993314 | SLC12A3 | c.2015T>C (p.Met672Thr) c.2012T>C (p.Met671Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886453T>G | CA395993321 | SLC12A3 | c.2015T>G (p.Met672Arg) c.2012T>G (p.Met671Arg) | |
16 | g.56886453T= | CA2224357232 | SLC12A3 | c.2015T= (p.Met672=) c.2012T= (p.Met671=) | |
16 | g.56886454G>A | CA395993325 | SLC12A3 | c.2016G>A (p.Met672Ile) c.2013G>A (p.Met671Ile) | |
16 | g.56886454G>C | CA395993327 | SLC12A3 | c.2016G>C (p.Met672Ile) c.2013G>C (p.Met671Ile) | gnomAD v4 |
16 | g.56886454G>T | CA395993330 | SLC12A3 | c.2016G>T (p.Met672Ile) c.2013G>T (p.Met671Ile) | |
16 | g.56886455A>C | CA395993333 | SLC12A3 | c.2017A>C (p.Ile673Leu) c.2014A>C (p.Ile672Leu) | |
16 | g.56886455A>G | CA395993335 | SLC12A3 | c.2017A>G (p.Ile673Val) c.2014A>G (p.Ile672Val) | |
16 | g.56886455A>T | CA395993336 | SLC12A3 | c.2017A>T (p.Ile673Phe) c.2014A>T (p.Ile672Phe) | |
16 | g.56886456T>A | CA395993340 | SLC12A3 | c.2018T>A (p.Ile673Asn) c.2015T>A (p.Ile672Asn) | |
16 | g.56886456T>C | CA395993342 | SLC12A3 | c.2018T>C (p.Ile673Thr) c.2015T>C (p.Ile672Thr) | gnomAD v4 |
16 | g.56886456T>G | CA395993343 | SLC12A3 | c.2018T>G (p.Ile673Ser) c.2015T>G (p.Ile672Ser) | COSMIC |
16 | g.56886457C>A | CA495605140 | SLC12A3 | c.2019C>A (p.Ile673=) c.2016C>A (p.Ile672=) | dbSNP COSMIC |
16 | g.56886457C= | CA2224357233 | SLC12A3 | c.2019C= (p.Ile673=) c.2016C= (p.Ile672=) | |
16 | g.56886457C>G | CA395993348 | SLC12A3 | c.2019C>G (p.Ile673Met) c.2016C>G (p.Ile672Met) | |
16 | g.56886457C>T | CA8069686 | SLC12A3 | c.2019C>T (p.Ile673=) c.2016C>T (p.Ile672=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886458T>A | CA395993351 | SLC12A3 | c.2020T>A (p.Cys674Ser) c.2017T>A (p.Cys673Ser) | |
16 | g.56886458T>C | CA395993355 | SLC12A3 | c.2020T>C (p.Cys674Arg) c.2017T>C (p.Cys673Arg) | |
16 | g.56886458T>G | CA395993352 | SLC12A3 | c.2020T>G (p.Cys674Gly) c.2017T>G (p.Cys673Gly) | |
16 | g.56886459G>A | CA395993357 | SLC12A3 | c.2021G>A (p.Cys674Tyr) c.2018G>A (p.Cys673Tyr) | |
16 | g.56886459G>C | CA395993359 | SLC12A3 | c.2021G>C (p.Cys674Ser) c.2018G>C (p.Cys673Ser) | |
16 | g.56886459G>T | CA395993361 | SLC12A3 | c.2021G>T (p.Cys674Phe) c.2018G>T (p.Cys673Phe) | |
16 | g.56886460T>A | CA395993363 | SLC12A3 | c.2022T>A (p.Cys674Ter) c.2019T>A (p.Cys673Ter) | |
16 | g.56886460T>C | CA495605148 | SLC12A3 | c.2022T>C (p.Cys674=) c.2019T>C (p.Cys673=) | |
16 | g.56886460T>G | CA395993365 | SLC12A3 | c.2022T>G (p.Cys674Trp) c.2019T>G (p.Cys673Trp) | |
16 | g.56886461G>A | CA395993367 | SLC12A3 | c.2023G>A (p.Gly675Ser) c.2020G>A (p.Gly674Ser) | |
16 | g.56886461G>C | CA395993370 | SLC12A3 | c.2023G>C (p.Gly675Arg) c.2020G>C (p.Gly674Arg) | |
16 | g.56886461G>T | CA395993372 | SLC12A3 | c.2023G>T (p.Gly675Cys) c.2020G>T (p.Gly674Cys) | |
16 | g.56886462G>A | CA395993374 | SLC12A3 | c.2024G>A (p.Gly675Asp) c.2021G>A (p.Gly674Asp) | ClinVar |
16 | g.56886462G>C | CA395993375 | SLC12A3 | c.2024G>C (p.Gly675Ala) c.2021G>C (p.Gly674Ala) | |
16 | g.56886462G= | CA2224357234 | SLC12A3 | c.2024G= (p.Gly675=) c.2021G= (p.Gly674=) | |
16 | g.56886462G>T | CA395993376 | SLC12A3 | c.2024G>T (p.Gly675Val) c.2021G>T (p.Gly674Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56886463C>A | CA495605155 | SLC12A3 | c.2025C>A (p.Gly675=) c.2022C>A (p.Gly674=) | ClinVar |
16 | g.56886463C= | CA2224357235 | SLC12A3 | c.2025C= (p.Gly675=) c.2022C= (p.Gly674=) | |
16 | g.56886463C>G | CA495605157 | SLC12A3 | c.2025C>G (p.Gly675=) c.2022C>G (p.Gly674=) | ClinVar dbSNP |
16 | g.56886463C>T | CA495605156 | SLC12A3 | c.2025C>T (p.Gly675=) c.2022C>T (p.Gly674=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886464C>A | CA395993381 | SLC12A3 | c.2026C>A (p.His676Asn) c.2023C>A (p.His675Asn) | |
16 | g.56886464C= | CA2224357236 | SLC12A3 | c.2026C= (p.His676=) c.2023C= (p.His675=) | |
16 | g.56886464C>G | CA395993380 | SLC12A3 | c.2026C>G (p.His676Asp) c.2023C>G (p.His675Asp) | |
16 | g.56886464C>T | CA395993378 | SLC12A3 | c.2026C>T (p.His676Tyr) c.2023C>T (p.His675Tyr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886465A>C | CA395993385 | SLC12A3 | c.2027A>C (p.His676Pro) c.2024A>C (p.His675Pro) | |
16 | g.56886465A>G | CA395993386 | SLC12A3 | c.2027A>G (p.His676Arg) c.2024A>G (p.His675Arg) | |
16 | g.56886465A>T | CA395993388 | SLC12A3 | c.2027A>T (p.His676Leu) c.2024A>T (p.His675Leu) | |
16 | g.56886466C>A | CA395993391 | SLC12A3 | c.2028C>A (p.His676Gln) c.2025C>A (p.His675Gln) | |
16 | g.56886466C= | CA2224357237 | SLC12A3 | c.2028C= (p.His676=) c.2025C= (p.His675=) | |
16 | g.56886466C>G | CA8069688 | SLC12A3 | c.2028C>G (p.His676Gln) c.2025C>G (p.His675Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886466C>T | CA8069687 | SLC12A3 | c.2028C>T (p.His676=) c.2025C>T (p.His675=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886467G>A | CA8069689 | SLC12A3 | c.2029G>A (p.Val677Met) c.2026G>A (p.Val676Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886467G>C | CA395993396 | SLC12A3 | c.2029G>C (p.Val677Leu) c.2026G>C (p.Val676Leu) | |
16 | g.56886467G= | CA2224357238 | SLC12A3 | c.2029G= (p.Val677=) c.2026G= (p.Val676=) | |
16 | g.56886467G>T | CA395993397 | SLC12A3 | c.2029G>T (p.Val677Leu) c.2026G>T (p.Val676Leu) | gnomAD v4 |
16 | g.56886468T>A | CA395993398 | SLC12A3 | c.2030T>A (p.Val677Glu) c.2027T>A (p.Val676Glu) | |
16 | g.56886468T>C | CA395993399 | SLC12A3 | c.2030T>C (p.Val677Ala) c.2027T>C (p.Val676Ala) | |
16 | g.56886468T>G | CA395993402 | SLC12A3 | c.2030T>G (p.Val677Gly) c.2027T>G (p.Val676Gly) | ClinVar dbSNP |
16 | g.56886468T= | CA2224357239 | SLC12A3 | c.2030T= (p.Val677=) c.2027T= (p.Val676=) | |
16 | g.56886469G>A | CA495605169 | SLC12A3 | c.2031G>A (p.Val677=) c.2028G>A (p.Val676=) | |
16 | g.56886469G>C | CA495605170 | SLC12A3 | c.2031G>C (p.Val677=) c.2028G>C (p.Val676=) | |
16 | g.56886469G>T | CA495605172 | SLC12A3 | c.2031G>T (p.Val677=) c.2028G>T (p.Val676=) | gnomAD v4 |
16 | g.56886470C>A | CA395993409 | SLC12A3 | c.2032C>A (p.Leu678Ile) c.2029C>A (p.Leu677Ile) | |
16 | g.56886470C>G | CA395993407 | SLC12A3 | c.2032C>G (p.Leu678Val) c.2029C>G (p.Leu677Val) | |
16 | g.56886470C>T | CA395993404 | SLC12A3 | c.2032C>T (p.Leu678Phe) c.2029C>T (p.Leu677Phe) | |
16 | g.56886471T>A | CA395993410 | SLC12A3 | c.2033T>A (p.Leu678His) c.2030T>A (p.Leu677His) | |
16 | g.56886471T>C | CA395993412 | SLC12A3 | c.2033T>C (p.Leu678Pro) c.2030T>C (p.Leu677Pro) | |
16 | g.56886471T>G | CA395993411 | SLC12A3 | c.2033T>G (p.Leu678Arg) c.2030T>G (p.Leu677Arg) | |
16 | g.56886472C>A | CA495605180 | SLC12A3 | c.2034C>A (p.Leu678=) c.2031C>A (p.Leu677=) | |
16 | g.56886472C= | CA2224357240 | SLC12A3 | c.2034C= (p.Leu678=) c.2031C= (p.Leu677=) | |
16 | g.56886472C>G | CA495605178 | SLC12A3 | c.2034C>G (p.Leu678=) c.2031C>G (p.Leu677=) | |
16 | g.56886472C>T | CA8069690 | SLC12A3 | c.2034C>T (p.Leu678=) c.2031C>T (p.Leu677=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886473A>C | CA395993415 | SLC12A3 | c.2035A>C (p.Ile679Leu) c.2032A>C (p.Ile678Leu) | |
16 | g.56886473A>G | CA395993413 | SLC12A3 | c.2035A>G (p.Ile679Val) c.2032A>G (p.Ile678Val) | gnomAD v4 |
16 | g.56886473A>T | CA395993414 | SLC12A3 | c.2035A>T (p.Ile679Phe) c.2032A>T (p.Ile678Phe) | |
16 | g.56886474T>A | CA395993416 | SLC12A3 | c.2036T>A (p.Ile679Asn) c.2033T>A (p.Ile678Asn) | |
16 | g.56886474T>C | CA395993417 | SLC12A3 | c.2036T>C (p.Ile679Thr) c.2033T>C (p.Ile678Thr) | |
16 | g.56886474T>G | CA395993418 | SLC12A3 | c.2036T>G (p.Ile679Ser) c.2033T>G (p.Ile678Ser) | |
16 | g.56886475C>A | CA8069692 | SLC12A3 | c.2037C>A (p.Ile679=) c.2034C>A (p.Ile678=) | dbSNP ExAC gnomAD v2 |
16 | g.56886475C= | CA2224357241 | SLC12A3 | c.2037C= (p.Ile679=) c.2034C= (p.Ile678=) | |
16 | g.56886475C>G | CA395993419 | SLC12A3 | c.2037C>G (p.Ile679Met) c.2034C>G (p.Ile678Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886475C>T | CA8069691 | SLC12A3 | c.2037C>T (p.Ile679=) c.2034C>T (p.Ile678=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886476G>A | CA8069693 | SLC12A3 | c.2037+1G>A (n.2037+1G>A) c.2034+1G>A (n.2034+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56886476G>C | CA395993420 | SLC12A3 | c.2037+1G>C (n.2037+1G>C) c.2034+1G>C (n.2034+1G>C) | |
16 | g.56886476G= | CA2224357242 | SLC12A3 | c.2037+1G= (n.2037+1G=) c.2034+1G= (n.2034+1G=) | |
16 | g.56886476G>T | CA395993421 | SLC12A3 | c.2037+1G>T (n.2037+1G>T) c.2034+1G>T (n.2034+1G>T) | |
16 | g.56886477T>A | CA395993424 | SLC12A3 | c.2037+2T>A (n.2037+2T>A) c.2034+2T>A (n.2034+2T>A) | |
16 | g.56886477T>C | CA395993423 | SLC12A3 | c.2037+2T>C (n.2037+2T>C) c.2034+2T>C (n.2034+2T>C) | |
16 | g.56886477T>G | CA395993422 | SLC12A3 | c.2037+2T>G (n.2037+2T>G) c.2034+2T>G (n.2034+2T>G) | |
16 | g.56886477_56886489delinsTGAGTGGCCCCTG | CA2224357243 | SLC12A3 | c.2037+2_2037+14delinsTGAGTGGCCCCTG (n.2037+2_2037+14delinsTGAGTGGCCCCTG) c.2034+2_2034+14delinsTGAGTGGCCCCTG (n.2034+2_2034+14delinsTGAGTGGCCCCTG) | |
16 | g.56886481_56886492del | CA2224357244 | SLC12A3 | c.2037+6_2037+17del (n.2037+6_2037+17del) c.2034+6_2034+17del (n.2034+6_2034+17del) | dbSNP |
16 | g.56886479A= | CA2224357245 | SLC12A3 | c.2037+4A= (n.2037+4A=) c.2034+4A= (n.2034+4A=) | |
16 | g.56886479A>G | CA8069694 | SLC12A3 | c.2037+4A>G (n.2037+4A>G) c.2034+4A>G (n.2034+4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886480G>A | CA2633374492 | SLC12A3 | c.2037+5G>A (n.2037+5G>A) c.2034+5G>A (n.2034+5G>A) | gnomAD v4 |
16 | g.56886481T>G | CA2633374493 | SLC12A3 | c.2037+6T>G (n.2037+6T>G) c.2034+6T>G (n.2034+6T>G) | gnomAD v4 |
16 | g.56886482G>A | CA2576001840 | SLC12A3 | c.2037+7G>A (n.2037+7G>A) c.2034+7G>A (n.2034+7G>A) | ClinVar gnomAD v4 |
16 | g.56886483G>A | CA622338404 | SLC12A3 | c.2037+8G>A (n.2037+8G>A) c.2034+8G>A (n.2034+8G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886483G= | CA2224357246 | SLC12A3 | c.2037+8G= (n.2037+8G=) c.2034+8G= (n.2034+8G=) | |
16 | g.56886484C>A | CA2576001842 | SLC12A3 | c.2037+9C>A (n.2037+9C>A) c.2034+9C>A (n.2034+9C>A) | gnomAD v4 |
16 | g.56886484C= | CA2224357247 | SLC12A3 | c.2037+9C= (n.2037+9C=) c.2034+9C= (n.2034+9C=) | |
16 | g.56886484C>T | CA8069695 | SLC12A3 | c.2037+9C>T (n.2037+9C>T) c.2034+9C>T (n.2034+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886487del | CA2633374495 | SLC12A3 | c.2037+12del (n.2037+12del) c.2034+12del (n.2034+12del) | gnomAD v4 |
16 | g.56886485C>A | CA2576001843 | SLC12A3 | c.2037+10C>A (n.2037+10C>A) c.2034+10C>A (n.2034+10C>A) | gnomAD v4 |
16 | g.56886485C= | CA2224357248 | SLC12A3 | c.2037+10C= (n.2037+10C=) c.2034+10C= (n.2034+10C=) | |
16 | g.56886485C>T | CA8069696 | SLC12A3 | c.2037+10C>T (n.2037+10C>T) c.2034+10C>T (n.2034+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886486C>A | CA2633374499 | SLC12A3 | c.2037+11C>A (n.2037+11C>A) c.2034+11C>A (n.2034+11C>A) | gnomAD v4 |
16 | g.56886486C>G | CA2576001844 | SLC12A3 | c.2037+11C>G (n.2037+11C>G) c.2034+11C>G (n.2034+11C>G) | ClinVar |
16 | g.56886486C>T | CA2576001845 | SLC12A3 | c.2037+11C>T (n.2037+11C>T) c.2034+11C>T (n.2034+11C>T) | ClinVar gnomAD v4 |
16 | g.56886487C>A | CA8069697 | SLC12A3 | c.2037+12C>A (n.2037+12C>A) c.2034+12C>A (n.2034+12C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886487C= | CA2224357250 | SLC12A3 | c.2037+12C= (n.2037+12C=) c.2034+12C= (n.2034+12C=) | |
16 | g.56886487C>T | CA2224357249 | SLC12A3 | c.2037+12C>T (n.2037+12C>T) c.2034+12C>T (n.2034+12C>T) | dbSNP |
16 | g.56886489G>A | CA2224357252 | SLC12A3 | c.2037+14G>A (n.2037+14G>A) c.2034+14G>A (n.2034+14G>A) | ClinVar dbSNP |
16 | g.56886489G>C | CA2576001846 | SLC12A3 | c.2037+14G>C (n.2037+14G>C) c.2034+14G>C (n.2034+14G>C) | gnomAD v4 |
16 | g.56886489G= | CA2224357251 | SLC12A3 | c.2037+14G= (n.2037+14G=) c.2034+14G= (n.2034+14G=) | |
16 | g.56886490G>A | CA622338405 | SLC12A3 | c.2037+15G>A (n.2037+15G>A) c.2034+15G>A (n.2034+15G>A) | dbSNP gnomAD v2 |
16 | g.56886490G>C | CA2576001847 | SLC12A3 | c.2037+15G>C (n.2037+15G>C) c.2034+15G>C (n.2034+15G>C) | gnomAD v4 |
16 | g.56886490G= | CA2224357253 | SLC12A3 | c.2037+15G= (n.2037+15G=) c.2034+15G= (n.2034+15G=) | |
16 | g.56886492G>A | CA2633374504 | SLC12A3 | c.2037+17G>A (n.2037+17G>A) c.2034+17G>A (n.2034+17G>A) | gnomAD v4 |
16 | g.56886493G>A | CA2633374506 | SLC12A3 | c.2037+18G>A (n.2037+18G>A) c.2034+18G>A (n.2034+18G>A) | gnomAD v4 |
16 | g.56886493G>T | CA2633374508 | SLC12A3 | c.2037+18G>T (n.2037+18G>T) c.2034+18G>T (n.2034+18G>T) | gnomAD v4 |
16 | g.56886494G>A | CA2633374509 | SLC12A3 | c.2037+19G>A (n.2037+19G>A) c.2034+19G>A (n.2034+19G>A) | gnomAD v4 |
16 | g.56886495G>A | CA622338406 | SLC12A3 | c.2037+20G>A (n.2037+20G>A) c.2034+20G>A (n.2034+20G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886495G= | CA2224357254 | SLC12A3 | c.2037+20G= (n.2037+20G=) c.2034+20G= (n.2034+20G=) | |
16 | g.56886495G>T | CA8069698 | SLC12A3 | c.2037+20G>T (n.2037+20G>T) c.2034+20G>T (n.2034+20G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886496C>A | CA8069699 | SLC12A3 | c.2037+21C>A (n.2037+21C>A) c.2034+21C>A (n.2034+21C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886496C= | CA2224357256 | SLC12A3 | c.2037+21C= (n.2037+21C=) c.2034+21C= (n.2034+21C=) | |
16 | g.56886496C>G | CA2224357255 | SLC12A3 | c.2037+21C>G (n.2037+21C>G) c.2034+21C>G (n.2034+21C>G) | dbSNP gnomAD v4 |
16 | g.56886496dup | CA2633374513 | SLC12A3 | c.2037+21dup (n.2037+21dup) c.2034+21dup (n.2034+21dup) | gnomAD v4 |
16 | g.56886498_56886499del | CA2576001848 | SLC12A3 | c.2037+23_2037+24del (n.2037+23_2037+24del) c.2034+23_2034+24del (n.2034+23_2034+24del) | |
16 | g.56886497del | CA2633374516 | SLC12A3 | c.2037+22del (n.2037+22del) c.2034+22del (n.2034+22del) | gnomAD v4 |
16 | g.56886497A= | CA2224357257 | SLC12A3 | c.2037+22A= (n.2037+22A=) c.2034+22A= (n.2034+22A=) | |
16 | g.56886497A>C | CA8069700 | SLC12A3 | c.2037+22A>C (n.2037+22A>C) c.2034+22A>C (n.2034+22A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56886498C>A | CA2576001849 | SLC12A3 | c.2037+23C>A (n.2037+23C>A) c.2034+23C>A (n.2034+23C>A) | gnomAD v4 |
16 | g.56886498C= | CA2224357258 | SLC12A3 | c.2037+23C= (n.2037+23C=) c.2034+23C= (n.2034+23C=) | |
16 | g.56886498C>T | CA622338407 | SLC12A3 | c.2037+23C>T (n.2037+23C>T) c.2034+23C>T (n.2034+23C>T) | dbSNP gnomAD v2 |
16 | g.56886503del | CA2633374517 | SLC12A3 | c.2037+28del (n.2037+28del) c.2034+28del (n.2034+28del) | gnomAD v4 |
16 | g.56886501G>A | CA8069701 | SLC12A3 | c.2037+26G>A (n.2037+26G>A) c.2034+26G>A (n.2034+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56886501G= | CA2224357259 | SLC12A3 | c.2037+26G= (n.2037+26G=) c.2034+26G= (n.2034+26G=) | |
16 | g.56886501G>T | CA622338408 | SLC12A3 | c.2037+26G>T (n.2037+26G>T) c.2034+26G>T (n.2034+26G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56886502G>A | CA2633374519 | SLC12A3 | c.2037+27G>A (n.2037+27G>A) c.2034+27G>A (n.2034+27G>A) | gnomAD v4 |
16 | g.56886503G>A | CA2576001850 | SLC12A3 | c.2037+28G>A (n.2037+28G>A) c.2034+28G>A (n.2034+28G>A) | |
16 | g.56886503G>T | CA2633374521 | SLC12A3 | c.2037+28G>T (n.2037+28G>T) c.2034+28G>T (n.2034+28G>T) | gnomAD v4 |