Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.51139457G>A | CA395883930 | SALL1 | c.2765C>T (p.Ser922Phe) c.2474C>T (p.Ser825Phe) c.77-1905C>T (n.77-1905C>T) | |
16 | g.51139457G>C | CA395883927 | SALL1 | c.2765C>G (p.Ser922Cys) c.2474C>G (p.Ser825Cys) c.77-1905C>G (n.77-1905C>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139457G= | CA2222018071 | SALL1 | c.2765C= (p.Ser922=) c.2474C= (p.Ser825=) c.77-1905C= (n.77-1905C=) | |
16 | g.51139457G>T | CA395883929 | SALL1 | c.2765C>A (p.Ser922Tyr) c.2474C>A (p.Ser825Tyr) c.77-1905C>A (n.77-1905C>A) | |
16 | g.51139458A= | CA2222018076 | SALL1 | c.2764T= (p.Ser922=) c.2473T= (p.Ser825=) c.77-1906T= (n.77-1906T=) | |
16 | g.51139458A>C | CA395883933 | SALL1 | c.2764T>G (p.Ser922Ala) c.2473T>G (p.Ser825Ala) c.77-1906T>G (n.77-1906T>G) | |
16 | g.51139458A>G | CA395883934 | SALL1 | c.2764T>C (p.Ser922Pro) c.2473T>C (p.Ser825Pro) c.77-1906T>C (n.77-1906T>C) | dbSNP |
16 | g.51139458A>T | CA395883936 | SALL1 | c.2764T>A (p.Ser922Thr) c.2473T>A (p.Ser825Thr) c.77-1906T>A (n.77-1906T>A) | |
16 | g.51139459C>A | CA395883938 | SALL1 | c.2763G>T (p.Glu921Asp) c.2472G>T (p.Glu824Asp) c.77-1907G>T (n.77-1907G>T) | |
16 | g.51139459C>G | CA395883940 | SALL1 | c.2763G>C (p.Glu921Asp) c.2472G>C (p.Glu824Asp) c.77-1907G>C (n.77-1907G>C) | |
16 | g.51139459C>T | CA495780198 | SALL1 | c.2763G>A (p.Glu921=) c.2472G>A (p.Glu824=) c.77-1907G>A (n.77-1907G>A) | |
16 | g.51139460T>A | CA395883942 | SALL1 | c.2762A>T (p.Glu921Val) c.2471A>T (p.Glu824Val) c.77-1908A>T (n.77-1908A>T) | |
16 | g.51139460T>C | CA395883944 | SALL1 | c.2762A>G (p.Glu921Gly) c.2471A>G (p.Glu824Gly) c.77-1908A>G (n.77-1908A>G) | |
16 | g.51139460T>G | CA395883943 | SALL1 | c.2762A>C (p.Glu921Ala) c.2471A>C (p.Glu824Ala) c.77-1908A>C (n.77-1908A>C) | |
16 | g.51139461C>A | CA395883945 | SALL1 | c.2761G>T (p.Glu921Ter) c.2470G>T (p.Glu824Ter) c.77-1909G>T (n.77-1909G>T) | |
16 | g.51139461C>G | CA395883946 | SALL1 | c.2761G>C (p.Glu921Gln) c.2470G>C (p.Glu824Gln) c.77-1909G>C (n.77-1909G>C) | |
16 | g.51139461C>T | CA395883947 | SALL1 | c.2761G>A (p.Glu921Lys) c.2470G>A (p.Glu824Lys) c.77-1909G>A (n.77-1909G>A) | |
16 | g.51139462T>A | CA495780199 | SALL1 | c.2760A>T (p.Ser920=) c.2469A>T (p.Ser823=) c.77-1910A>T (n.77-1910A>T) | |
16 | g.51139462T>C | CA495780200 | SALL1 | c.2760A>G (p.Ser920=) c.2469A>G (p.Ser823=) c.77-1910A>G (n.77-1910A>G) | |
16 | g.51139462T>G | CA495780201 | SALL1 | c.2760A>C (p.Ser920=) c.2469A>C (p.Ser823=) c.77-1910A>C (n.77-1910A>C) | |
16 | g.51139463G>A | CA395883948 | SALL1 | c.2759C>T (p.Ser920Leu) c.2468C>T (p.Ser823Leu) c.77-1911C>T (n.77-1911C>T) | |
16 | g.51139463G>C | CA395883949 | SALL1 | c.2759C>G (p.Ser920Ter) c.2468C>G (p.Ser823Ter) c.77-1911C>G (n.77-1911C>G) | |
16 | g.51139463G>T | CA395883950 | SALL1 | c.2759C>A (p.Ser920Ter) c.2468C>A (p.Ser823Ter) c.77-1911C>A (n.77-1911C>A) | |
16 | g.51139464A>C | CA395883951 | SALL1 | c.2758T>G (p.Ser920Ala) c.2467T>G (p.Ser823Ala) c.77-1912T>G (n.77-1912T>G) | |
16 | g.51139464A>G | CA395883952 | SALL1 | c.2758T>C (p.Ser920Pro) c.2467T>C (p.Ser823Pro) c.77-1912T>C (n.77-1912T>C) | |
16 | g.51139464A>T | CA395883953 | SALL1 | c.2758T>A (p.Ser920Thr) c.2467T>A (p.Ser823Thr) c.77-1912T>A (n.77-1912T>A) | |
16 | g.51139465G>A | CA495780202 | SALL1 | c.2757C>T (p.Ile919=) c.2466C>T (p.Ile822=) c.77-1913C>T (n.77-1913C>T) | gnomAD v4 |
16 | g.51139465G>C | CA395883954 | SALL1 | c.2757C>G (p.Ile919Met) c.2466C>G (p.Ile822Met) c.77-1913C>G (n.77-1913C>G) | |
16 | g.51139465G>T | CA495780203 | SALL1 | c.2757C>A (p.Ile919=) c.2466C>A (p.Ile822=) c.77-1913C>A (n.77-1913C>A) | |
16 | g.51139466A>C | CA395883957 | SALL1 | c.2756T>G (p.Ile919Ser) c.2465T>G (p.Ile822Ser) c.77-1914T>G (n.77-1914T>G) | |
16 | g.51139466A>G | CA395883956 | SALL1 | c.2756T>C (p.Ile919Thr) c.2465T>C (p.Ile822Thr) c.77-1914T>C (n.77-1914T>C) | |
16 | g.51139466A>T | CA395883955 | SALL1 | c.2756T>A (p.Ile919Asn) c.2465T>A (p.Ile822Asn) c.77-1914T>A (n.77-1914T>A) | |
16 | g.51139467T>A | CA395883958 | SALL1 | c.2755A>T (p.Ile919Phe) c.2464A>T (p.Ile822Phe) c.77-1915A>T (n.77-1915A>T) | |
16 | g.51139467T>C | CA395883960 | SALL1 | c.2755A>G (p.Ile919Val) c.2464A>G (p.Ile822Val) c.77-1915A>G (n.77-1915A>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139467T>G | CA395883959 | SALL1 | c.2755A>C (p.Ile919Leu) c.2464A>C (p.Ile822Leu) c.77-1915A>C (n.77-1915A>C) | |
16 | g.51139467T= | CA2222018080 | SALL1 | c.2755A= (p.Ile919=) c.2464A= (p.Ile822=) c.77-1915A= (n.77-1915A=) | |
16 | g.51139468G>A | CA8053047 | SALL1 | c.2754C>T (p.Ala918=) c.2463C>T (p.Ala821=) c.77-1916C>T (n.77-1916C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139468G>C | CA495780205 | SALL1 | c.2754C>G (p.Ala918=) c.2463C>G (p.Ala821=) c.77-1916C>G (n.77-1916C>G) | |
16 | g.51139468G= | CA2222018084 | SALL1 | c.2754C= (p.Ala918=) c.2463C= (p.Ala821=) c.77-1916C= (n.77-1916C=) | |
16 | g.51139468G>T | CA495780206 | SALL1 | c.2754C>A (p.Ala918=) c.2463C>A (p.Ala821=) c.77-1916C>A (n.77-1916C>A) | |
16 | g.51139469G>A | CA8053048 | SALL1 | c.2753C>T (p.Ala918Val) c.2462C>T (p.Ala821Val) c.77-1917C>T (n.77-1917C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139469G>C | CA395883961 | SALL1 | c.2753C>G (p.Ala918Gly) c.2462C>G (p.Ala821Gly) c.77-1917C>G (n.77-1917C>G) | |
16 | g.51139469G= | CA2222018089 | SALL1 | c.2753C= (p.Ala918=) c.2462C= (p.Ala821=) c.77-1917C= (n.77-1917C=) | |
16 | g.51139469G>T | CA395883962 | SALL1 | c.2753C>A (p.Ala918Asp) c.2462C>A (p.Ala821Asp) c.77-1917C>A (n.77-1917C>A) | |
16 | g.51139470C>A | CA395883963 | SALL1 | c.2752G>T (p.Ala918Ser) c.2461G>T (p.Ala821Ser) c.77-1918G>T (n.77-1918G>T) | |
16 | g.51139470C= | CA2222018097 | SALL1 | c.2752G= (p.Ala918=) c.2461G= (p.Ala821=) c.77-1918G= (n.77-1918G=) | |
16 | g.51139470C>G | CA395883964 | SALL1 | c.2752G>C (p.Ala918Pro) c.2461G>C (p.Ala821Pro) c.77-1918G>C (n.77-1918G>C) | |
16 | g.51139470C>T | CA8053049 | SALL1 | c.2752G>A (p.Ala918Thr) c.2461G>A (p.Ala821Thr) c.77-1918G>A (n.77-1918G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139471T>A | CA495780207 | SALL1 | c.2751A>T (p.Pro917=) c.2460A>T (p.Pro820=) c.77-1919A>T (n.77-1919A>T) | |
16 | g.51139471T>C | CA495780208 | SALL1 | c.2751A>G (p.Pro917=) c.2460A>G (p.Pro820=) c.77-1919A>G (n.77-1919A>G) | gnomAD v4 |
16 | g.51139471T>G | CA495780209 | SALL1 | c.2751A>C (p.Pro917=) c.2460A>C (p.Pro820=) c.77-1919A>C (n.77-1919A>C) | |
16 | g.51139472G>A | CA395883965 | SALL1 | c.2750C>T (p.Pro917Leu) c.2459C>T (p.Pro820Leu) c.77-1920C>T (n.77-1920C>T) | dbSNP COSMIC |
16 | g.51139472G>C | CA395883966 | SALL1 | c.2750C>G (p.Pro917Arg) c.2459C>G (p.Pro820Arg) c.77-1920C>G (n.77-1920C>G) | dbSNP |
16 | g.51139472G= | CA2222018106 | SALL1 | c.2750C= (p.Pro917=) c.2459C= (p.Pro820=) c.77-1920C= (n.77-1920C=) | |
16 | g.51139472G>T | CA395883967 | SALL1 | c.2750C>A (p.Pro917Gln) c.2459C>A (p.Pro820Gln) c.77-1920C>A (n.77-1920C>A) | |
16 | g.51139473G>A | CA395883968 | SALL1 | c.2749C>T (p.Pro917Ser) c.2458C>T (p.Pro820Ser) c.77-1921C>T (n.77-1921C>T) | |
16 | g.51139473G>C | CA395883969 | SALL1 | c.2749C>G (p.Pro917Ala) c.2458C>G (p.Pro820Ala) c.77-1921C>G (n.77-1921C>G) | |
16 | g.51139473G>T | CA395883970 | SALL1 | c.2749C>A (p.Pro917Thr) c.2458C>A (p.Pro820Thr) c.77-1921C>A (n.77-1921C>A) | |
16 | g.51139474G>A | CA495780213 | SALL1 | c.2748C>T (p.Ser916=) c.2457C>T (p.Ser819=) c.77-1922C>T (n.77-1922C>T) | dbSNP gnomAD v4 |
16 | g.51139474G>C | CA395883971 | SALL1 | c.2748C>G (p.Ser916Arg) c.2457C>G (p.Ser819Arg) c.77-1922C>G (n.77-1922C>G) | |
16 | g.51139474G= | CA2222018108 | SALL1 | c.2748C= (p.Ser916=) c.2457C= (p.Ser819=) c.77-1922C= (n.77-1922C=) | |
16 | g.51139474G>T | CA395883972 | SALL1 | c.2748C>A (p.Ser916Arg) c.2457C>A (p.Ser819Arg) c.77-1922C>A (n.77-1922C>A) | |
16 | g.51139475C>A | CA395883973 | SALL1 | c.2747G>T (p.Ser916Ile) c.2456G>T (p.Ser819Ile) c.77-1923G>T (n.77-1923G>T) | |
16 | g.51139475C>G | CA395883974 | SALL1 | c.2747G>C (p.Ser916Thr) c.2456G>C (p.Ser819Thr) c.77-1923G>C (n.77-1923G>C) | |
16 | g.51139475C>T | CA395883975 | SALL1 | c.2747G>A (p.Ser916Asn) c.2456G>A (p.Ser819Asn) c.77-1923G>A (n.77-1923G>A) | |
16 | g.51139476T>A | CA395883976 | SALL1 | c.2746A>T (p.Ser916Cys) c.2455A>T (p.Ser819Cys) c.77-1924A>T (n.77-1924A>T) | |
16 | g.51139476T>C | CA395883977 | SALL1 | c.2746A>G (p.Ser916Gly) c.2455A>G (p.Ser819Gly) c.77-1924A>G (n.77-1924A>G) | |
16 | g.51139476T>G | CA395883978 | SALL1 | c.2746A>C (p.Ser916Arg) c.2455A>C (p.Ser819Arg) c.77-1924A>C (n.77-1924A>C) | |
16 | g.51139477G>A | CA495780214 | SALL1 | c.2745C>T (p.Gly915=) c.2454C>T (p.Gly818=) c.77-1925C>T (n.77-1925C>T) | |
16 | g.51139477G>C | CA495780215 | SALL1 | c.2745C>G (p.Gly915=) c.2454C>G (p.Gly818=) c.77-1925C>G (n.77-1925C>G) | |
16 | g.51139477G>T | CA495780217 | SALL1 | c.2745C>A (p.Gly915=) c.2454C>A (p.Gly818=) c.77-1925C>A (n.77-1925C>A) | |
16 | g.51139478C>A | CA395883979 | SALL1 | c.2744G>T (p.Gly915Val) c.2453G>T (p.Gly818Val) c.77-1926G>T (n.77-1926G>T) | |
16 | g.51139478C>G | CA395883980 | SALL1 | c.2744G>C (p.Gly915Ala) c.2453G>C (p.Gly818Ala) c.77-1926G>C (n.77-1926G>C) | |
16 | g.51139478C>T | CA395883981 | SALL1 | c.2744G>A (p.Gly915Asp) c.2453G>A (p.Gly818Asp) c.77-1926G>A (n.77-1926G>A) | |
16 | g.51139479C>A | CA395883982 | SALL1 | c.2743G>T (p.Gly915Cys) c.2452G>T (p.Gly818Cys) c.77-1927G>T (n.77-1927G>T) | |
16 | g.51139479C>G | CA395883983 | SALL1 | c.2743G>C (p.Gly915Arg) c.2452G>C (p.Gly818Arg) c.77-1927G>C (n.77-1927G>C) | |
16 | g.51139479C>T | CA395883984 | SALL1 | c.2743G>A (p.Gly915Ser) c.2452G>A (p.Gly818Ser) c.77-1927G>A (n.77-1927G>A) | COSMIC |
16 | g.51139480A= | CA2222018111 | SALL1 | c.2742T= (p.Ala914=) c.2451T= (p.Ala817=) c.77-1928T= (n.77-1928T=) | |
16 | g.51139480A>C | CA495780220 | SALL1 | c.2742T>G (p.Ala914=) c.2451T>G (p.Ala817=) c.77-1928T>G (n.77-1928T>G) | |
16 | g.51139480A>G | CA495780222 | SALL1 | c.2742T>C (p.Ala914=) c.2451T>C (p.Ala817=) c.77-1928T>C (n.77-1928T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139480A>T | CA495780221 | SALL1 | c.2742T>A (p.Ala914=) c.2451T>A (p.Ala817=) c.77-1928T>A (n.77-1928T>A) | |
16 | g.51139481G>A | CA395883987 | SALL1 | c.2741C>T (p.Ala914Val) c.2450C>T (p.Ala817Val) c.77-1929C>T (n.77-1929C>T) | |
16 | g.51139481G>C | CA395883986 | SALL1 | c.2741C>G (p.Ala914Gly) c.2450C>G (p.Ala817Gly) c.77-1929C>G (n.77-1929C>G) | |
16 | g.51139481G>T | CA395883985 | SALL1 | c.2741C>A (p.Ala914Asp) c.2450C>A (p.Ala817Asp) c.77-1929C>A (n.77-1929C>A) | |
16 | g.51139482C>A | CA395883990 | SALL1 | c.2740G>T (p.Ala914Ser) c.2449G>T (p.Ala817Ser) c.77-1930G>T (n.77-1930G>T) | gnomAD v4 |
16 | g.51139482C>G | CA395883988 | SALL1 | c.2740G>C (p.Ala914Pro) c.2449G>C (p.Ala817Pro) c.77-1930G>C (n.77-1930G>C) | |
16 | g.51139482C>T | CA395883989 | SALL1 | c.2740G>A (p.Ala914Thr) c.2449G>A (p.Ala817Thr) c.77-1930G>A (n.77-1930G>A) | gnomAD v4 |
16 | g.51139483A= | CA2222018115 | SALL1 | c.2739T= (p.Ser913=) c.2448T= (p.Ser816=) c.77-1931T= (n.77-1931T=) | |
16 | g.51139483A>C | CA8053050 | SALL1 | c.2739T>G (p.Ser913Arg) c.2448T>G (p.Ser816Arg) c.77-1931T>G (n.77-1931T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139483A>G | CA281301138 | SALL1 | c.2739T>C (p.Ser913=) c.2448T>C (p.Ser816=) c.77-1931T>C (n.77-1931T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139483A>T | CA395883991 | SALL1 | c.2739T>A (p.Ser913Arg) c.2448T>A (p.Ser816Arg) c.77-1931T>A (n.77-1931T>A) | |
16 | g.51139484C>A | CA395883992 | SALL1 | c.2738G>T (p.Ser913Ile) c.2447G>T (p.Ser816Ile) c.77-1932G>T (n.77-1932G>T) | dbSNP |
16 | g.51139484C= | CA2222018119 | SALL1 | c.2738G= (p.Ser913=) c.2447G= (p.Ser816=) c.77-1932G= (n.77-1932G=) | |
16 | g.51139484C>G | CA395883993 | SALL1 | c.2738G>C (p.Ser913Thr) c.2447G>C (p.Ser816Thr) c.77-1932G>C (n.77-1932G>C) | gnomAD v4 |
16 | g.51139484C>T | CA395883994 | SALL1 | c.2738G>A (p.Ser913Asn) c.2447G>A (p.Ser816Asn) c.77-1932G>A (n.77-1932G>A) | |
16 | g.51139485T>A | CA395883995 | SALL1 | c.2737A>T (p.Ser913Cys) c.2446A>T (p.Ser816Cys) c.77-1933A>T (n.77-1933A>T) | |
16 | g.51139485T>C | CA395883996 | SALL1 | c.2737A>G (p.Ser913Gly) c.2446A>G (p.Ser816Gly) c.77-1933A>G (n.77-1933A>G) | |
16 | g.51139485T>G | CA395883997 | SALL1 | c.2737A>C (p.Ser913Arg) c.2446A>C (p.Ser816Arg) c.77-1933A>C (n.77-1933A>C) | |
16 | g.51139486T>A | CA395883998 | SALL1 | c.2736A>T (p.Gln912His) c.2445A>T (p.Gln815His) c.77-1934A>T (n.77-1934A>T) | |
16 | g.51139486T>C | CA495780225 | SALL1 | c.2736A>G (p.Gln912=) c.2445A>G (p.Gln815=) c.77-1934A>G (n.77-1934A>G) | gnomAD v4 |
16 | g.51139486T>G | CA395883999 | SALL1 | c.2736A>C (p.Gln912His) c.2445A>C (p.Gln815His) c.77-1934A>C (n.77-1934A>C) | |
16 | g.51139487T>A | CA395884002 | SALL1 | c.2735A>T (p.Gln912Leu) c.2444A>T (p.Gln815Leu) c.77-1935A>T (n.77-1935A>T) | |
16 | g.51139487T>C | CA395884000 | SALL1 | c.2735A>G (p.Gln912Arg) c.2444A>G (p.Gln815Arg) c.77-1935A>G (n.77-1935A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139487T>G | CA395884001 | SALL1 | c.2735A>C (p.Gln912Pro) c.2444A>C (p.Gln815Pro) c.77-1935A>C (n.77-1935A>C) | |
16 | g.51139487T= | CA2222018122 | SALL1 | c.2735A= (p.Gln912=) c.2444A= (p.Gln815=) c.77-1935A= (n.77-1935A=) | |
16 | g.51139488G>A | CA395884003 | SALL1 | c.2734C>T (p.Gln912Ter) c.2443C>T (p.Gln815Ter) c.77-1936C>T (n.77-1936C>T) | |
16 | g.51139488G>C | CA395884004 | SALL1 | c.2734C>G (p.Gln912Glu) c.2443C>G (p.Gln815Glu) c.77-1936C>G (n.77-1936C>G) | |
16 | g.51139488G>T | CA395884005 | SALL1 | c.2734C>A (p.Gln912Lys) c.2443C>A (p.Gln815Lys) c.77-1936C>A (n.77-1936C>A) | |
16 | g.51139489G>A | CA495780227 | SALL1 | c.2733C>T (p.Ser911=) c.2442C>T (p.Ser814=) c.77-1937C>T (n.77-1937C>T) | |
16 | g.51139489G>C | CA395884006 | SALL1 | c.2733C>G (p.Ser911Arg) c.2442C>G (p.Ser814Arg) c.77-1937C>G (n.77-1937C>G) | |
16 | g.51139489G>T | CA395884007 | SALL1 | c.2733C>A (p.Ser911Arg) c.2442C>A (p.Ser814Arg) c.77-1937C>A (n.77-1937C>A) | |
16 | g.51139490C>A | CA395884008 | SALL1 | c.2732G>T (p.Ser911Ile) c.2441G>T (p.Ser814Ile) c.77-1938G>T (n.77-1938G>T) | |
16 | g.51139490C>G | CA395884009 | SALL1 | c.2732G>C (p.Ser911Thr) c.2441G>C (p.Ser814Thr) c.77-1938G>C (n.77-1938G>C) | |
16 | g.51139490C>T | CA395884010 | SALL1 | c.2732G>A (p.Ser911Asn) c.2441G>A (p.Ser814Asn) c.77-1938G>A (n.77-1938G>A) | |
16 | g.51139491T>A | CA395884011 | SALL1 | c.2731A>T (p.Ser911Cys) c.2440A>T (p.Ser814Cys) c.77-1939A>T (n.77-1939A>T) | |
16 | g.51139491T>C | CA395884012 | SALL1 | c.2731A>G (p.Ser911Gly) c.2440A>G (p.Ser814Gly) c.77-1939A>G (n.77-1939A>G) | |
16 | g.51139491T>G | CA395884013 | SALL1 | c.2731A>C (p.Ser911Arg) c.2440A>C (p.Ser814Arg) c.77-1939A>C (n.77-1939A>C) | |
16 | g.51139492T>A | CA395884014 | SALL1 | c.2730A>T (p.Glu910Asp) c.2439A>T (p.Glu813Asp) c.77-1940A>T (n.77-1940A>T) | |
16 | g.51139492T>C | CA495780229 | SALL1 | c.2730A>G (p.Glu910=) c.2439A>G (p.Glu813=) c.77-1940A>G (n.77-1940A>G) | |
16 | g.51139492T>G | CA395884015 | SALL1 | c.2730A>C (p.Glu910Asp) c.2439A>C (p.Glu813Asp) c.77-1940A>C (n.77-1940A>C) | |
16 | g.51139493T>A | CA395884017 | SALL1 | c.2729A>T (p.Glu910Val) c.2438A>T (p.Glu813Val) c.77-1941A>T (n.77-1941A>T) | |
16 | g.51139493T>C | CA281301144 | SALL1 | c.2729A>G (p.Glu910Gly) c.2438A>G (p.Glu813Gly) c.77-1941A>G (n.77-1941A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139493T>G | CA395884016 | SALL1 | c.2729A>C (p.Glu910Ala) c.2438A>C (p.Glu813Ala) c.77-1941A>C (n.77-1941A>C) | |
16 | g.51139493T= | CA2222018125 | SALL1 | c.2729A= (p.Glu910=) c.2438A= (p.Glu813=) c.77-1941A= (n.77-1941A=) | |
16 | g.51139494C>A | CA395884018 | SALL1 | c.2728G>T (p.Glu910Ter) c.2437G>T (p.Glu813Ter) c.77-1942G>T (n.77-1942G>T) | |
16 | g.51139494C= | CA2222018134 | SALL1 | c.2728G= (p.Glu910=) c.2437G= (p.Glu813=) c.77-1942G= (n.77-1942G=) | |
16 | g.51139494C>G | CA395884019 | SALL1 | c.2728G>C (p.Glu910Gln) c.2437G>C (p.Glu813Gln) c.77-1942G>C (n.77-1942G>C) | |
16 | g.51139494C>T | CA281301151 | SALL1 | c.2728G>A (p.Glu910Lys) c.2437G>A (p.Glu813Lys) c.77-1942G>A (n.77-1942G>A) | dbSNP COSMIC |
16 | g.51139495C>A | CA395884020 | SALL1 | c.2727G>T (p.Met909Ile) c.2436G>T (p.Met812Ile) c.77-1943G>T (n.77-1943G>T) | |
16 | g.51139495C= | CA2222018139 | SALL1 | c.2727G= (p.Met909=) c.2436G= (p.Met812=) c.77-1943G= (n.77-1943G=) | |
16 | g.51139495C>G | CA395884021 | SALL1 | c.2727G>C (p.Met909Ile) c.2436G>C (p.Met812Ile) c.77-1943G>C (n.77-1943G>C) | |
16 | g.51139495C>T | CA281301155 | SALL1 | c.2727G>A (p.Met909Ile) c.2436G>A (p.Met812Ile) c.77-1943G>A (n.77-1943G>A) | dbSNP COSMIC |
16 | g.51139496A>C | CA395884022 | SALL1 | c.2726T>G (p.Met909Arg) c.2435T>G (p.Met812Arg) c.77-1944T>G (n.77-1944T>G) | |
16 | g.51139496A>G | CA395884023 | SALL1 | c.2726T>C (p.Met909Thr) c.2435T>C (p.Met812Thr) c.77-1944T>C (n.77-1944T>C) | gnomAD v4 |
16 | g.51139496A>T | CA395884024 | SALL1 | c.2726T>A (p.Met909Lys) c.2435T>A (p.Met812Lys) c.77-1944T>A (n.77-1944T>A) | |
16 | g.51139497T>A | CA395884025 | SALL1 | c.2725A>T (p.Met909Leu) c.2434A>T (p.Met812Leu) c.77-1945A>T (n.77-1945A>T) | gnomAD v4 |
16 | g.51139497T>C | CA8053051 | SALL1 | c.2725A>G (p.Met909Val) c.2434A>G (p.Met812Val) c.77-1945A>G (n.77-1945A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139497T>G | CA395884026 | SALL1 | c.2725A>C (p.Met909Leu) c.2434A>C (p.Met812Leu) c.77-1945A>C (n.77-1945A>C) | |
16 | g.51139497T= | CA2222018146 | SALL1 | c.2725A= (p.Met909=) c.2434A= (p.Met812=) c.77-1945A= (n.77-1945A=) | |
16 | g.51139498G>A | CA495780233 | SALL1 | c.2724C>T (p.Asp908=) c.2433C>T (p.Asp811=) c.77-1946C>T (n.77-1946C>T) | |
16 | g.51139498G>C | CA395884027 | SALL1 | c.2724C>G (p.Asp908Glu) c.2433C>G (p.Asp811Glu) c.77-1946C>G (n.77-1946C>G) | |
16 | g.51139498G>T | CA395884028 | SALL1 | c.2724C>A (p.Asp908Glu) c.2433C>A (p.Asp811Glu) c.77-1946C>A (n.77-1946C>A) | |
16 | g.51139499T>A | CA395884031 | SALL1 | c.2723A>T (p.Asp908Val) c.2432A>T (p.Asp811Val) c.77-1947A>T (n.77-1947A>T) | |
16 | g.51139499T>C | CA395884030 | SALL1 | c.2723A>G (p.Asp908Gly) c.2432A>G (p.Asp811Gly) c.77-1947A>G (n.77-1947A>G) | |
16 | g.51139499T>G | CA395884029 | SALL1 | c.2723A>C (p.Asp908Ala) c.2432A>C (p.Asp811Ala) c.77-1947A>C (n.77-1947A>C) | |
16 | g.51139500C>A | CA395884032 | SALL1 | c.2722G>T (p.Asp908Tyr) c.2431G>T (p.Asp811Tyr) c.77-1948G>T (n.77-1948G>T) | |
16 | g.51139500C>G | CA395884033 | SALL1 | c.2722G>C (p.Asp908His) c.2431G>C (p.Asp811His) c.77-1948G>C (n.77-1948G>C) | |
16 | g.51139500C>T | CA395884034 | SALL1 | c.2722G>A (p.Asp908Asn) c.2431G>A (p.Asp811Asn) c.77-1948G>A (n.77-1948G>A) | |
16 | g.51139501A= | CA2222018151 | SALL1 | c.2721T= (p.Gly907=) c.2430T= (p.Gly810=) c.77-1949T= (n.77-1949T=) | |
16 | g.51139501A>C | CA495780236 | SALL1 | c.2721T>G (p.Gly907=) c.2430T>G (p.Gly810=) c.77-1949T>G (n.77-1949T>G) | |
16 | g.51139501A>G | CA495780237 | SALL1 | c.2721T>C (p.Gly907=) c.2430T>C (p.Gly810=) c.77-1949T>C (n.77-1949T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139501A>T | CA495780238 | SALL1 | c.2721T>A (p.Gly907=) c.2430T>A (p.Gly810=) c.77-1949T>A (n.77-1949T>A) | |
16 | g.51139502C>A | CA395884035 | SALL1 | c.2720G>T (p.Gly907Val) c.2429G>T (p.Gly810Val) c.77-1950G>T (n.77-1950G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139502C= | CA2222018154 | SALL1 | c.2720G= (p.Gly907=) c.2429G= (p.Gly810=) c.77-1950G= (n.77-1950G=) | |
16 | g.51139502C>G | CA395884036 | SALL1 | c.2720G>C (p.Gly907Ala) c.2429G>C (p.Gly810Ala) c.77-1950G>C (n.77-1950G>C) | |
16 | g.51139502C>T | CA395884037 | SALL1 | c.2720G>A (p.Gly907Asp) c.2429G>A (p.Gly810Asp) c.77-1950G>A (n.77-1950G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139503C>A | CA395884038 | SALL1 | c.2719G>T (p.Gly907Cys) c.2428G>T (p.Gly810Cys) c.77-1951G>T (n.77-1951G>T) | |
16 | g.51139503C>G | CA395884039 | SALL1 | c.2719G>C (p.Gly907Arg) c.2428G>C (p.Gly810Arg) c.77-1951G>C (n.77-1951G>C) | |
16 | g.51139503C>T | CA395884040 | SALL1 | c.2719G>A (p.Gly907Ser) c.2428G>A (p.Gly810Ser) c.77-1951G>A (n.77-1951G>A) | gnomAD v4 |
16 | g.51139504A>C | CA495780239 | SALL1 | c.2718T>G (p.Gly906=) c.2427T>G (p.Gly809=) c.77-1952T>G (n.77-1952T>G) | |
16 | g.51139504A>G | CA495780240 | SALL1 | c.2718T>C (p.Gly906=) c.2427T>C (p.Gly809=) c.77-1952T>C (n.77-1952T>C) | |
16 | g.51139504A>T | CA495780241 | SALL1 | c.2718T>A (p.Gly906=) c.2427T>A (p.Gly809=) c.77-1952T>A (n.77-1952T>A) | |
16 | g.51139505C>A | CA395884041 | SALL1 | c.2717G>T (p.Gly906Val) c.2426G>T (p.Gly809Val) c.77-1953G>T (n.77-1953G>T) | |
16 | g.51139505C= | CA2222018159 | SALL1 | c.2717G= (p.Gly906=) c.2426G= (p.Gly809=) c.77-1953G= (n.77-1953G=) | |
16 | g.51139505C>G | CA395884042 | SALL1 | c.2717G>C (p.Gly906Ala) c.2426G>C (p.Gly809Ala) c.77-1953G>C (n.77-1953G>C) | |
16 | g.51139505C>T | CA395884043 | SALL1 | c.2717G>A (p.Gly906Asp) c.2426G>A (p.Gly809Asp) c.77-1953G>A (n.77-1953G>A) | dbSNP |
16 | g.51139506C>A | CA395884046 | SALL1 | c.2716G>T (p.Gly906Cys) c.2425G>T (p.Gly809Cys) c.77-1954G>T (n.77-1954G>T) | |
16 | g.51139506C= | CA2222018163 | SALL1 | c.2716G= (p.Gly906=) c.2425G= (p.Gly809=) c.77-1954G= (n.77-1954G=) | |
16 | g.51139506C>G | CA395884045 | SALL1 | c.2716G>C (p.Gly906Arg) c.2425G>C (p.Gly809Arg) c.77-1954G>C (n.77-1954G>C) | |
16 | g.51139506C>T | CA395884044 | SALL1 | c.2716G>A (p.Gly906Ser) c.2425G>A (p.Gly809Ser) c.77-1954G>A (n.77-1954G>A) | dbSNP |
16 | g.51139506_51139510delinsCCACT | CA2222018162 | SALL1 | c.2712_2716delinsAGTGG (p.Ser904=) c.2421_2425delinsAGTGG (p.Ser807=) c.77-1958_77-1954delinsAGTGG (n.77-1958_77-1954delinsAGTGG) | |
16 | g.51139507C>A | CA495780245 | SALL1 | c.2715G>T (p.Val905=) c.2424G>T (p.Val808=) c.77-1955G>T (n.77-1955G>T) | dbSNP gnomAD v4 |
16 | g.51139507C= | CA2222018167 | SALL1 | c.2715G= (p.Val905=) c.2424G= (p.Val808=) c.77-1955G= (n.77-1955G=) | |
16 | g.51139507C>G | CA495780246 | SALL1 | c.2715G>C (p.Val905=) c.2424G>C (p.Val808=) c.77-1955G>C (n.77-1955G>C) | dbSNP gnomAD v4 |
16 | g.51139507C>T | CA495780247 | SALL1 | c.2715G>A (p.Val905=) c.2424G>A (p.Val808=) c.77-1955G>A (n.77-1955G>A) | |
16 | g.51139507_51139510del | CA915949260 | SALL1 | c.2712_2715del (p.Gly906ValfsTer?) c.2421_2424del (p.Gly809ValfsTer?) c.77-1958_77-1955del (n.77-1958_77-1955del) | ClinVar dbSNP |
16 | g.51139508A>C | CA395884047 | SALL1 | c.2714T>G (p.Val905Gly) c.2423T>G (p.Val808Gly) c.77-1956T>G (n.77-1956T>G) | |
16 | g.51139508A>G | CA395884048 | SALL1 | c.2714T>C (p.Val905Ala) c.2423T>C (p.Val808Ala) c.77-1956T>C (n.77-1956T>C) | |
16 | g.51139508A>T | CA395884049 | SALL1 | c.2714T>A (p.Val905Glu) c.2423T>A (p.Val808Glu) c.77-1956T>A (n.77-1956T>A) | |
16 | g.51139509C>A | CA395884050 | SALL1 | c.2713G>T (p.Val905Leu) c.2422G>T (p.Val808Leu) c.77-1957G>T (n.77-1957G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139509C= | CA2222018171 | SALL1 | c.2713G= (p.Val905=) c.2422G= (p.Val808=) c.77-1957G= (n.77-1957G=) | |
16 | g.51139509C>G | CA395884051 | SALL1 | c.2713G>C (p.Val905Leu) c.2422G>C (p.Val808Leu) c.77-1957G>C (n.77-1957G>C) | |
16 | g.51139509C>T | CA395884052 | SALL1 | c.2713G>A (p.Val905Met) c.2422G>A (p.Val808Met) c.77-1957G>A (n.77-1957G>A) | |
16 | g.51139510T>A | CA495780249 | SALL1 | c.2712A>T (p.Ser904=) c.2421A>T (p.Ser807=) c.77-1958A>T (n.77-1958A>T) | |
16 | g.51139510T>C | CA495780248 | SALL1 | c.2712A>G (p.Ser904=) c.2421A>G (p.Ser807=) c.77-1958A>G (n.77-1958A>G) | |
16 | g.51139510T>G | CA8053052 | SALL1 | c.2712A>C (p.Ser904=) c.2421A>C (p.Ser807=) c.77-1958A>C (n.77-1958A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139510T= | CA2222018174 | SALL1 | c.2712A= (p.Ser904=) c.2421A= (p.Ser807=) c.77-1958A= (n.77-1958A=) | |
16 | g.51139511G>A | CA395884053 | SALL1 | c.2711C>T (p.Ser904Leu) c.2420C>T (p.Ser807Leu) c.77-1959C>T (n.77-1959C>T) | |
16 | g.51139511G>C | CA395884055 | SALL1 | c.2711C>G (p.Ser904Ter) c.2420C>G (p.Ser807Ter) c.77-1959C>G (n.77-1959C>G) | |
16 | g.51139511G>T | CA395884054 | SALL1 | c.2711C>A (p.Ser904Ter) c.2420C>A (p.Ser807Ter) c.77-1959C>A (n.77-1959C>A) | |
16 | g.51139512A>C | CA395884056 | SALL1 | c.2710T>G (p.Ser904Ala) c.2419T>G (p.Ser807Ala) c.77-1960T>G (n.77-1960T>G) | |
16 | g.51139512A>G | CA395884057 | SALL1 | c.2710T>C (p.Ser904Pro) c.2419T>C (p.Ser807Pro) c.77-1960T>C (n.77-1960T>C) | |
16 | g.51139512A>T | CA395884058 | SALL1 | c.2710T>A (p.Ser904Thr) c.2419T>A (p.Ser807Thr) c.77-1960T>A (n.77-1960T>A) | |
16 | g.51139513G>A | CA495780250 | SALL1 | c.2709C>T (p.Ser903=) c.2418C>T (p.Ser806=) c.77-1961C>T (n.77-1961C>T) | gnomAD v4 |
16 | g.51139513G>C | CA8053053 | SALL1 | c.2709C>G (p.Ser903=) c.2418C>G (p.Ser806=) c.77-1961C>G (n.77-1961C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139513G= | CA2222018176 | SALL1 | c.2709C= (p.Ser903=) c.2418C= (p.Ser806=) c.77-1961C= (n.77-1961C=) | |
16 | g.51139513G>T | CA495780251 | SALL1 | c.2709C>A (p.Ser903=) c.2418C>A (p.Ser806=) c.77-1961C>A (n.77-1961C>A) | |
16 | g.51139514G>A | CA395884059 | SALL1 | c.2708C>T (p.Ser903Phe) c.2417C>T (p.Ser806Phe) c.77-1962C>T (n.77-1962C>T) | gnomAD v4 COSMIC |
16 | g.51139514G>C | CA395884061 | SALL1 | c.2708C>G (p.Ser903Cys) c.2417C>G (p.Ser806Cys) c.77-1962C>G (n.77-1962C>G) | |
16 | g.51139514G>T | CA395884060 | SALL1 | c.2708C>A (p.Ser903Tyr) c.2417C>A (p.Ser806Tyr) c.77-1962C>A (n.77-1962C>A) | |
16 | g.51139515A>C | CA395884062 | SALL1 | c.2707T>G (p.Ser903Ala) c.2416T>G (p.Ser806Ala) c.77-1963T>G (n.77-1963T>G) | |
16 | g.51139515A>G | CA395884063 | SALL1 | c.2707T>C (p.Ser903Pro) c.2416T>C (p.Ser806Pro) c.77-1963T>C (n.77-1963T>C) | gnomAD v4 COSMIC |
16 | g.51139515A>T | CA395884064 | SALL1 | c.2707T>A (p.Ser903Thr) c.2416T>A (p.Ser806Thr) c.77-1963T>A (n.77-1963T>A) | gnomAD v4 |
16 | g.51139516T>A | CA495780252 | SALL1 | c.2706A>T (p.Ser902=) c.2415A>T (p.Ser805=) c.77-1964A>T (n.77-1964A>T) | |
16 | g.51139516T>C | CA495780253 | SALL1 | c.2706A>G (p.Ser902=) c.2415A>G (p.Ser805=) c.77-1964A>G (n.77-1964A>G) | |
16 | g.51139516T>G | CA495780254 | SALL1 | c.2706A>C (p.Ser902=) c.2415A>C (p.Ser805=) c.77-1964A>C (n.77-1964A>C) | |
16 | g.51139517G>A | CA395884065 | SALL1 | c.2705C>T (p.Ser902Leu) c.2414C>T (p.Ser805Leu) c.77-1965C>T (n.77-1965C>T) | gnomAD v4 |
16 | g.51139517G>C | CA395884066 | SALL1 | c.2705C>G (p.Ser902Ter) c.2414C>G (p.Ser805Ter) c.77-1965C>G (n.77-1965C>G) | |
16 | g.51139517G>T | CA395884067 | SALL1 | c.2705C>A (p.Ser902Ter) c.2414C>A (p.Ser805Ter) c.77-1965C>A (n.77-1965C>A) | |
16 | g.51139518A>C | CA395884068 | SALL1 | c.2704T>G (p.Ser902Ala) c.2413T>G (p.Ser805Ala) c.77-1966T>G (n.77-1966T>G) | |
16 | g.51139518A>G | CA395884069 | SALL1 | c.2704T>C (p.Ser902Pro) c.2413T>C (p.Ser805Pro) c.77-1966T>C (n.77-1966T>C) | |
16 | g.51139518A>T | CA395884070 | SALL1 | c.2704T>A (p.Ser902Thr) c.2413T>A (p.Ser805Thr) c.77-1966T>A (n.77-1966T>A) | |
16 | g.51139519A>C | CA395884071 | SALL1 | c.2703T>G (p.Asp901Glu) c.2412T>G (p.Asp804Glu) c.77-1967T>G (n.77-1967T>G) | |
16 | g.51139519A>G | CA495780255 | SALL1 | c.2703T>C (p.Asp901=) c.2412T>C (p.Asp804=) c.77-1967T>C (n.77-1967T>C) | |
16 | g.51139519A>T | CA395884072 | SALL1 | c.2703T>A (p.Asp901Glu) c.2412T>A (p.Asp804Glu) c.77-1967T>A (n.77-1967T>A) | |
16 | g.51139520T>A | CA395884073 | SALL1 | c.2702A>T (p.Asp901Val) c.2411A>T (p.Asp804Val) c.77-1968A>T (n.77-1968A>T) | |
16 | g.51139520T>C | CA395884075 | SALL1 | c.2702A>G (p.Asp901Gly) c.2411A>G (p.Asp804Gly) c.77-1968A>G (n.77-1968A>G) | |
16 | g.51139520T>G | CA395884074 | SALL1 | c.2702A>C (p.Asp901Ala) c.2411A>C (p.Asp804Ala) c.77-1968A>C (n.77-1968A>C) | |
16 | g.51139521C>A | CA395884076 | SALL1 | c.2701G>T (p.Asp901Tyr) c.2410G>T (p.Asp804Tyr) c.77-1969G>T (n.77-1969G>T) | |
16 | g.51139521C>G | CA395884078 | SALL1 | c.2701G>C (p.Asp901His) c.2410G>C (p.Asp804His) c.77-1969G>C (n.77-1969G>C) | |
16 | g.51139521C>T | CA395884077 | SALL1 | c.2701G>A (p.Asp901Asn) c.2410G>A (p.Asp804Asn) c.77-1969G>A (n.77-1969G>A) | |
16 | g.51139522A>C | CA395884079 | SALL1 | c.2700T>G (p.Asn900Lys) c.2409T>G (p.Asn803Lys) c.77-1970T>G (n.77-1970T>G) | |
16 | g.51139522A>G | CA495780256 | SALL1 | c.2700T>C (p.Asn900=) c.2409T>C (p.Asn803=) c.77-1970T>C (n.77-1970T>C) | |
16 | g.51139522A>T | CA395884080 | SALL1 | c.2700T>A (p.Asn900Lys) c.2409T>A (p.Asn803Lys) c.77-1970T>A (n.77-1970T>A) | |
16 | g.51139523T>A | CA395884081 | SALL1 | c.2699A>T (p.Asn900Ile) c.2408A>T (p.Asn803Ile) c.77-1971A>T (n.77-1971A>T) | |
16 | g.51139523T>C | CA395884082 | SALL1 | c.2699A>G (p.Asn900Ser) c.2408A>G (p.Asn803Ser) c.77-1971A>G (n.77-1971A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139523T>G | CA395884083 | SALL1 | c.2699A>C (p.Asn900Thr) c.2408A>C (p.Asn803Thr) c.77-1971A>C (n.77-1971A>C) | |
16 | g.51139523T= | CA2222018179 | SALL1 | c.2699A= (p.Asn900=) c.2408A= (p.Asn803=) c.77-1971A= (n.77-1971A=) | |
16 | g.51139524T>A | CA395884084 | SALL1 | c.2698A>T (p.Asn900Tyr) c.2407A>T (p.Asn803Tyr) c.77-1972A>T (n.77-1972A>T) | |
16 | g.51139524T>C | CA395884085 | SALL1 | c.2698A>G (p.Asn900Asp) c.2407A>G (p.Asn803Asp) c.77-1972A>G (n.77-1972A>G) | COSMIC |
16 | g.51139524T>G | CA395884086 | SALL1 | c.2698A>C (p.Asn900His) c.2407A>C (p.Asn803His) c.77-1972A>C (n.77-1972A>C) | |
16 | g.51139525G>A | CA495780257 | SALL1 | c.2697C>T (p.Thr899=) c.2406C>T (p.Thr802=) c.77-1973C>T (n.77-1973C>T) | dbSNP |
16 | g.51139525G>C | CA495780258 | SALL1 | c.2697C>G (p.Thr899=) c.2406C>G (p.Thr802=) c.77-1973C>G (n.77-1973C>G) | gnomAD v4 |
16 | g.51139525G= | CA2222018182 | SALL1 | c.2697C= (p.Thr899=) c.2406C= (p.Thr802=) c.77-1973C= (n.77-1973C=) | |
16 | g.51139525G>T | CA495780259 | SALL1 | c.2697C>A (p.Thr899=) c.2406C>A (p.Thr802=) c.77-1973C>A (n.77-1973C>A) | gnomAD v4 |
16 | g.51139526G>A | CA395884087 | SALL1 | c.2696C>T (p.Thr899Ile) c.2405C>T (p.Thr802Ile) c.77-1974C>T (n.77-1974C>T) | dbSNP |
16 | g.51139526G>C | CA395884089 | SALL1 | c.2696C>G (p.Thr899Ser) c.2405C>G (p.Thr802Ser) c.77-1974C>G (n.77-1974C>G) | |
16 | g.51139526G= | CA2222018185 | SALL1 | c.2696C= (p.Thr899=) c.2405C= (p.Thr802=) c.77-1974C= (n.77-1974C=) | |
16 | g.51139526G>T | CA395884088 | SALL1 | c.2696C>A (p.Thr899Asn) c.2405C>A (p.Thr802Asn) c.77-1974C>A (n.77-1974C>A) | COSMIC |
16 | g.51139527T>A | CA395884090 | SALL1 | c.2695A>T (p.Thr899Ser) c.2404A>T (p.Thr802Ser) c.77-1975A>T (n.77-1975A>T) | |
16 | g.51139527T>C | CA395884091 | SALL1 | c.2695A>G (p.Thr899Ala) c.2404A>G (p.Thr802Ala) c.77-1975A>G (n.77-1975A>G) | |
16 | g.51139527T>G | CA395884092 | SALL1 | c.2695A>C (p.Thr899Pro) c.2404A>C (p.Thr802Pro) c.77-1975A>C (n.77-1975A>C) | |
16 | g.51139528del | CA645592650 | SALL1 | c.2694del (p.Thr899ProfsTer?) c.2403del (p.Thr802ProfsTer?) c.77-1976del (n.77-1976del) | COSMIC |
16 | g.51139528C>A | CA495780260 | SALL1 | c.2694G>T (p.Leu898=) c.2403G>T (p.Leu801=) c.77-1976G>T (n.77-1976G>T) | gnomAD v4 |
16 | g.51139528C= | CA2222018189 | SALL1 | c.2694G= (p.Leu898=) c.2403G= (p.Leu801=) c.77-1976G= (n.77-1976G=) | |
16 | g.51139528C>G | CA495780261 | SALL1 | c.2694G>C (p.Leu898=) c.2403G>C (p.Leu801=) c.77-1976G>C (n.77-1976G>C) | |
16 | g.51139528C>T | CA281301164 | SALL1 | c.2694G>A (p.Leu898=) c.2403G>A (p.Leu801=) c.77-1976G>A (n.77-1976G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139529A>C | CA395884093 | SALL1 | c.2693T>G (p.Leu898Arg) c.2402T>G (p.Leu801Arg) c.77-1977T>G (n.77-1977T>G) | |
16 | g.51139529A>G | CA395884095 | SALL1 | c.2693T>C (p.Leu898Pro) c.2402T>C (p.Leu801Pro) c.77-1977T>C (n.77-1977T>C) | gnomAD v4 |
16 | g.51139529A>T | CA395884094 | SALL1 | c.2693T>A (p.Leu898Gln) c.2402T>A (p.Leu801Gln) c.77-1977T>A (n.77-1977T>A) | |
16 | g.51139530G>A | CA495780262 | SALL1 | c.2692C>T (p.Leu898=) c.2401C>T (p.Leu801=) c.77-1978C>T (n.77-1978C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139530G>C | CA395884096 | SALL1 | c.2692C>G (p.Leu898Val) c.2401C>G (p.Leu801Val) c.77-1978C>G (n.77-1978C>G) | |
16 | g.51139530G= | CA2222018194 | SALL1 | c.2692C= (p.Leu898=) c.2401C= (p.Leu801=) c.77-1978C= (n.77-1978C=) | |
16 | g.51139530G>T | CA395884097 | SALL1 | c.2692C>A (p.Leu898Met) c.2401C>A (p.Leu801Met) c.77-1978C>A (n.77-1978C>A) | |
16 | g.51139531G>A | CA8053054 | SALL1 | c.2691C>T (p.Val897=) c.2400C>T (p.Val800=) c.77-1979C>T (n.77-1979C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139531G>C | CA495780264 | SALL1 | c.2691C>G (p.Val897=) c.2400C>G (p.Val800=) c.77-1979C>G (n.77-1979C>G) | |
16 | g.51139531G= | CA2222018199 | SALL1 | c.2691C= (p.Val897=) c.2400C= (p.Val800=) c.77-1979C= (n.77-1979C=) | |
16 | g.51139531G>T | CA495780263 | SALL1 | c.2691C>A (p.Val897=) c.2400C>A (p.Val800=) c.77-1979C>A (n.77-1979C>A) | |
16 | g.51139532A= | CA2222018203 | SALL1 | c.2690T= (p.Val897=) c.2399T= (p.Val800=) c.77-1980T= (n.77-1980T=) | |
16 | g.51139532A>C | CA395884098 | SALL1 | c.2690T>G (p.Val897Gly) c.2399T>G (p.Val800Gly) c.77-1980T>G (n.77-1980T>G) | |
16 | g.51139532A>G | CA395884099 | SALL1 | c.2690T>C (p.Val897Ala) c.2399T>C (p.Val800Ala) c.77-1980T>C (n.77-1980T>C) | |
16 | g.51139532A>T | CA395884100 | SALL1 | c.2690T>A (p.Val897Asp) c.2399T>A (p.Val800Asp) c.77-1980T>A (n.77-1980T>A) | |
16 | g.51139533C>A | CA395884101 | SALL1 | c.2689G>T (p.Val897Phe) c.2398G>T (p.Val800Phe) c.77-1981G>T (n.77-1981G>T) | |
16 | g.51139533C>G | CA395884102 | SALL1 | c.2689G>C (p.Val897Leu) c.2398G>C (p.Val800Leu) c.77-1981G>C (n.77-1981G>C) | |
16 | g.51139533C>T | CA395884103 | SALL1 | c.2689G>A (p.Val897Ile) c.2398G>A (p.Val800Ile) c.77-1981G>A (n.77-1981G>A) | |
16 | g.51139534_51139537dup | CA915949261 | SALL1 | c.2686_2689dup (p.Val897GlyfsTer6) c.2395_2398dup (p.Val800GlyfsTer6) c.77-1984_77-1981dup (n.77-1984_77-1981dup) | ClinVar dbSNP |
16 | g.51139534A>C | CA395884104 | SALL1 | c.2688T>G (p.Asp896Glu) c.2397T>G (p.Asp799Glu) c.77-1982T>G (n.77-1982T>G) | |
16 | g.51139534A>G | CA495780265 | SALL1 | c.2688T>C (p.Asp896=) c.2397T>C (p.Asp799=) c.77-1982T>C (n.77-1982T>C) | gnomAD v4 |
16 | g.51139534A>T | CA395884105 | SALL1 | c.2688T>A (p.Asp896Glu) c.2397T>A (p.Asp799Glu) c.77-1982T>A (n.77-1982T>A) | |
16 | g.51139535T>A | CA395884106 | SALL1 | c.2687A>T (p.Asp896Val) c.2396A>T (p.Asp799Val) c.77-1983A>T (n.77-1983A>T) | |
16 | g.51139535T>C | CA395884108 | SALL1 | c.2687A>G (p.Asp896Gly) c.2396A>G (p.Asp799Gly) c.77-1983A>G (n.77-1983A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139535T>G | CA395884107 | SALL1 | c.2687A>C (p.Asp896Ala) c.2396A>C (p.Asp799Ala) c.77-1983A>C (n.77-1983A>C) | |
16 | g.51139535T= | CA2222018215 | SALL1 | c.2687A= (p.Asp896=) c.2396A= (p.Asp799=) c.77-1983A= (n.77-1983A=) | |
16 | g.51139536C>A | CA395884109 | SALL1 | c.2686G>T (p.Asp896Tyr) c.2395G>T (p.Asp799Tyr) c.77-1984G>T (n.77-1984G>T) | |
16 | g.51139536C>G | CA395884110 | SALL1 | c.2686G>C (p.Asp896His) c.2395G>C (p.Asp799His) c.77-1984G>C (n.77-1984G>C) | |
16 | g.51139536C>T | CA395884111 | SALL1 | c.2686G>A (p.Asp896Asn) c.2395G>A (p.Asp799Asn) c.77-1984G>A (n.77-1984G>A) | COSMIC |
16 | g.51139540dup | CA2832568977 | SALL1 | c.2686dup (p.Asp896GlyfsTer6) c.2395dup (p.Asp799GlyfsTer6) c.77-1984dup (n.77-1984dup) | |
16 | g.51139540del | CA645592651 | SALL1 | c.2686del (p.Asp896MetfsTer3) c.2395del (p.Asp799MetfsTer3) c.77-1984del (n.77-1984del) | COSMIC |
16 | g.51139537C>A | CA8053055 | SALL1 | c.2685G>T (p.Gly895=) c.2394G>T (p.Gly798=) c.77-1985G>T (n.77-1985G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139537C= | CA2222018220 | SALL1 | c.2685G= (p.Gly895=) c.2394G= (p.Gly798=) c.77-1985G= (n.77-1985G=) | |
16 | g.51139537C>G | CA495780267 | SALL1 | c.2685G>C (p.Gly895=) c.2394G>C (p.Gly798=) c.77-1985G>C (n.77-1985G>C) | |
16 | g.51139537C>T | CA495780266 | SALL1 | c.2685G>A (p.Gly895=) c.2394G>A (p.Gly798=) c.77-1985G>A (n.77-1985G>A) | |
16 | g.51139538C>A | CA395884112 | SALL1 | c.2684G>T (p.Gly895Val) c.2393G>T (p.Gly798Val) c.77-1986G>T (n.77-1986G>T) | COSMIC |
16 | g.51139538C>G | CA395884113 | SALL1 | c.2684G>C (p.Gly895Ala) c.2393G>C (p.Gly798Ala) c.77-1986G>C (n.77-1986G>C) | gnomAD v4 |
16 | g.51139538C>T | CA395884114 | SALL1 | c.2684G>A (p.Gly895Glu) c.2393G>A (p.Gly798Glu) c.77-1986G>A (n.77-1986G>A) | |
16 | g.51139539C>A | CA395884115 | SALL1 | c.2683G>T (p.Gly895Trp) c.2392G>T (p.Gly798Trp) c.77-1987G>T (n.77-1987G>T) | |
16 | g.51139539C= | CA2222018225 | SALL1 | c.2683G= (p.Gly895=) c.2392G= (p.Gly798=) c.77-1987G= (n.77-1987G=) | |
16 | g.51139539C>G | CA395884116 | SALL1 | c.2683G>C (p.Gly895Arg) c.2392G>C (p.Gly798Arg) c.77-1987G>C (n.77-1987G>C) | |
16 | g.51139539C>T | CA281301169 | SALL1 | c.2683G>A (p.Gly895Arg) c.2392G>A (p.Gly798Arg) c.77-1987G>A (n.77-1987G>A) | dbSNP |
16 | g.51139540C>A | CA395884117 | SALL1 | c.2682G>T (p.Glu894Asp) c.2391G>T (p.Glu797Asp) c.77-1988G>T (n.77-1988G>T) | |
16 | g.51139540C>G | CA395884118 | SALL1 | c.2682G>C (p.Glu894Asp) c.2391G>C (p.Glu797Asp) c.77-1988G>C (n.77-1988G>C) | |
16 | g.51139540C>T | CA495780268 | SALL1 | c.2682G>A (p.Glu894=) c.2391G>A (p.Glu797=) c.77-1988G>A (n.77-1988G>A) | gnomAD v4 |
16 | g.51139541T>A | CA395884121 | SALL1 | c.2681A>T (p.Glu894Val) c.2390A>T (p.Glu797Val) c.77-1989A>T (n.77-1989A>T) | |
16 | g.51139541T>C | CA395884119 | SALL1 | c.2681A>G (p.Glu894Gly) c.2390A>G (p.Glu797Gly) c.77-1989A>G (n.77-1989A>G) | |
16 | g.51139541T>G | CA395884120 | SALL1 | c.2681A>C (p.Glu894Ala) c.2390A>C (p.Glu797Ala) c.77-1989A>C (n.77-1989A>C) | |
16 | g.51139542C>A | CA395884122 | SALL1 | c.2680G>T (p.Glu894Ter) c.2389G>T (p.Glu797Ter) c.77-1990G>T (n.77-1990G>T) | |
16 | g.51139542C= | CA2222018231 | SALL1 | c.2680G= (p.Glu894=) c.2389G= (p.Glu797=) c.77-1990G= (n.77-1990G=) | |
16 | g.51139542C>G | CA395884123 | SALL1 | c.2680G>C (p.Glu894Gln) c.2389G>C (p.Glu797Gln) c.77-1990G>C (n.77-1990G>C) | |
16 | g.51139542C>T | CA8053056 | SALL1 | c.2680G>A (p.Glu894Lys) c.2389G>A (p.Glu797Lys) c.77-1990G>A (n.77-1990G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139543G>A | CA8053057 | SALL1 | c.2679C>T (p.Ile893=) c.2388C>T (p.Ile796=) c.77-1991C>T (n.77-1991C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.51139543G>C | CA395884124 | SALL1 | c.2679C>G (p.Ile893Met) c.2388C>G (p.Ile796Met) c.77-1991C>G (n.77-1991C>G) | |
16 | g.51139543G= | CA2222018236 | SALL1 | c.2679C= (p.Ile893=) c.2388C= (p.Ile796=) c.77-1991C= (n.77-1991C=) | |
16 | g.51139543G>T | CA495780269 | SALL1 | c.2679C>A (p.Ile893=) c.2388C>A (p.Ile796=) c.77-1991C>A (n.77-1991C>A) | |
16 | g.51139544A>C | CA395884125 | SALL1 | c.2678T>G (p.Ile893Ser) c.2387T>G (p.Ile796Ser) c.77-1992T>G (n.77-1992T>G) | |
16 | g.51139544A>G | CA395884126 | SALL1 | c.2678T>C (p.Ile893Thr) c.2387T>C (p.Ile796Thr) c.77-1992T>C (n.77-1992T>C) | |
16 | g.51139544A>T | CA395884127 | SALL1 | c.2678T>A (p.Ile893Asn) c.2387T>A (p.Ile796Asn) c.77-1992T>A (n.77-1992T>A) | |
16 | g.51139545T>A | CA395884128 | SALL1 | c.2677A>T (p.Ile893Phe) c.2386A>T (p.Ile796Phe) c.77-1993A>T (n.77-1993A>T) | gnomAD v4 |
16 | g.51139545T>C | CA395884129 | SALL1 | c.2677A>G (p.Ile893Val) c.2386A>G (p.Ile796Val) c.77-1993A>G (n.77-1993A>G) | dbSNP |
16 | g.51139545T>G | CA395884130 | SALL1 | c.2677A>C (p.Ile893Leu) c.2386A>C (p.Ile796Leu) c.77-1993A>C (n.77-1993A>C) | |
16 | g.51139545T= | CA2222018240 | SALL1 | c.2677A= (p.Ile893=) c.2386A= (p.Ile796=) c.77-1993A= (n.77-1993A=) | |
16 | g.51139546G>A | CA495780270 | SALL1 | c.2676C>T (p.Ser892=) c.2385C>T (p.Ser795=) c.77-1994C>T (n.77-1994C>T) | gnomAD v4 |
16 | g.51139546G>C | CA495780271 | SALL1 | c.2676C>G (p.Ser892=) c.2385C>G (p.Ser795=) c.77-1994C>G (n.77-1994C>G) | |
16 | g.51139546G>T | CA495780272 | SALL1 | c.2676C>A (p.Ser892=) c.2385C>A (p.Ser795=) c.77-1994C>A (n.77-1994C>A) | |
16 | g.51139547del | CA2838880849 | SALL1 | c.2676del (p.Ile893SerfsTer6) c.2385del (p.Ile796SerfsTer6) c.77-1994del (n.77-1994del) | |
16 | g.51139547G>A | CA395884133 | SALL1 | c.2675C>T (p.Ser892Phe) c.2384C>T (p.Ser795Phe) c.77-1995C>T (n.77-1995C>T) | dbSNP gnomAD v4 |
16 | g.51139547G>C | CA395884132 | SALL1 | c.2675C>G (p.Ser892Cys) c.2384C>G (p.Ser795Cys) c.77-1995C>G (n.77-1995C>G) | |
16 | g.51139547G= | CA2222018245 | SALL1 | c.2675C= (p.Ser892=) c.2384C= (p.Ser795=) c.77-1995C= (n.77-1995C=) | |
16 | g.51139547G>T | CA395884131 | SALL1 | c.2675C>A (p.Ser892Tyr) c.2384C>A (p.Ser795Tyr) c.77-1995C>A (n.77-1995C>A) | |
16 | g.51139548A= | CA2222018252 | SALL1 | c.2674T= (p.Ser892=) c.2383T= (p.Ser795=) c.77-1996T= (n.77-1996T=) | |
16 | g.51139548A>C | CA395884134 | SALL1 | c.2674T>G (p.Ser892Ala) c.2383T>G (p.Ser795Ala) c.77-1996T>G (n.77-1996T>G) | |
16 | g.51139548A>G | CA8053058 | SALL1 | c.2674T>C (p.Ser892Pro) c.2383T>C (p.Ser795Pro) c.77-1996T>C (n.77-1996T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.51139548A>T | CA395884135 | SALL1 | c.2674T>A (p.Ser892Thr) c.2383T>A (p.Ser795Thr) c.77-1996T>A (n.77-1996T>A) | |
16 | g.51139549C>A | CA8053059 | SALL1 | c.2673G>T (p.Gly891=) c.2382G>T (p.Gly794=) c.77-1997G>T (n.77-1997G>T) | dbSNP ExAC gnomAD v2 |
16 | g.51139549C= | CA2222018256 | SALL1 | c.2673G= (p.Gly891=) c.2382G= (p.Gly794=) c.77-1997G= (n.77-1997G=) | |
16 | g.51139549C>G | CA495780273 | SALL1 | c.2673G>C (p.Gly891=) c.2382G>C (p.Gly794=) c.77-1997G>C (n.77-1997G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.51139549C>T | CA495780274 | SALL1 | c.2673G>A (p.Gly891=) c.2382G>A (p.Gly794=) c.77-1997G>A (n.77-1997G>A) | |
16 | g.51139550C>A | CA395884136 | SALL1 | c.2672G>T (p.Gly891Val) c.2381G>T (p.Gly794Val) c.77-1998G>T (n.77-1998G>T) | COSMIC |
16 | g.51139550C= | CA2222018260 | SALL1 | c.2672G= (p.Gly891=) c.2381G= (p.Gly794=) c.77-1998G= (n.77-1998G=) | |
16 | g.51139550C>G | CA395884137 | SALL1 | c.2672G>C (p.Gly891Ala) c.2381G>C (p.Gly794Ala) c.77-1998G>C (n.77-1998G>C) | |
16 | g.51139550C>T | CA395884138 | SALL1 | c.2672G>A (p.Gly891Glu) c.2381G>A (p.Gly794Glu) c.77-1998G>A (n.77-1998G>A) | dbSNP |
16 | g.51139551C>A | CA8053060 | SALL1 | c.2671G>T (p.Gly891Trp) c.2380G>T (p.Gly794Trp) c.77-1999G>T (n.77-1999G>T) | dbSNP ExAC gnomAD v4 |
16 | g.51139551C= | CA2222018264 | SALL1 | c.2671G= (p.Gly891=) c.2380G= (p.Gly794=) c.77-1999G= (n.77-1999G=) | |
16 | g.51139551C>G | CA395884139 | SALL1 | c.2671G>C (p.Gly891Arg) c.2380G>C (p.Gly794Arg) c.77-1999G>C (n.77-1999G>C) | |
16 | g.51139551C>T | CA395884140 | SALL1 | c.2671G>A (p.Gly891Arg) c.2380G>A (p.Gly794Arg) c.77-1999G>A (n.77-1999G>A) | |
16 | g.51139552A= | CA2222018267 | SALL1 | c.2670T= (p.Asn890=) c.2379T= (p.Asn793=) c.77-2000T= (n.77-2000T=) | |
16 | g.51139552A>C | CA395884141 | SALL1 | c.2670T>G (p.Asn890Lys) c.2379T>G (p.Asn793Lys) c.77-2000T>G (n.77-2000T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.51139552A>G | CA495780275 | SALL1 | c.2670T>C (p.Asn890=) c.2379T>C (p.Asn793=) c.77-2000T>C (n.77-2000T>C) | |
16 | g.51139552A>T | CA395884142 | SALL1 | c.2670T>A (p.Asn890Lys) c.2379T>A (p.Asn793Lys) c.77-2000T>A (n.77-2000T>A) | |
16 | g.51139553T>A | CA395884143 | SALL1 | c.2669A>T (p.Asn890Ile) c.2378A>T (p.Asn793Ile) c.77-2001A>T (n.77-2001A>T) | |
16 | g.51139553T>C | CA395884144 | SALL1 | c.2669A>G (p.Asn890Ser) c.2378A>G (p.Asn793Ser) c.77-2001A>G (n.77-2001A>G) | gnomAD v4 |
16 | g.51139553T>G | CA395884145 | SALL1 | c.2669A>C (p.Asn890Thr) c.2378A>C (p.Asn793Thr) c.77-2001A>C (n.77-2001A>C) | |
16 | g.51139554T>A | CA395884148 | SALL1 | c.2668A>T (p.Asn890Tyr) c.2377A>T (p.Asn793Tyr) c.77-2002A>T (n.77-2002A>T) | |
16 | g.51139554T>C | CA395884146 | SALL1 | c.2668A>G (p.Asn890Asp) c.2377A>G (p.Asn793Asp) c.77-2002A>G (n.77-2002A>G) | |
16 | g.51139554T>G | CA395884147 | SALL1 | c.2668A>C (p.Asn890His) c.2377A>C (p.Asn793His) c.77-2002A>C (n.77-2002A>C) | |
16 | g.51139555C>A | CA395884149 | SALL1 | c.2667G>T (p.Glu889Asp) c.2376G>T (p.Glu792Asp) c.77-2003G>T (n.77-2003G>T) | |
16 | g.51139555C= | CA2222018270 | SALL1 | c.2667G= (p.Glu889=) c.2376G= (p.Glu792=) c.77-2003G= (n.77-2003G=) | |
16 | g.51139555C>G | CA395884150 | SALL1 | c.2667G>C (p.Glu889Asp) c.2376G>C (p.Glu792Asp) c.77-2003G>C (n.77-2003G>C) | |
16 | g.51139555C>T | CA495780276 | SALL1 | c.2667G>A (p.Glu889=) c.2376G>A (p.Glu792=) c.77-2003G>A (n.77-2003G>A) | dbSNP gnomAD v4 |
16 | g.51139556T>A | CA395884151 | SALL1 | c.2666A>T (p.Glu889Val) c.2375A>T (p.Glu792Val) c.77-2004A>T (n.77-2004A>T) | |
16 | g.51139556T>C | CA395884152 | SALL1 | c.2666A>G (p.Glu889Gly) c.2375A>G (p.Glu792Gly) c.77-2004A>G (n.77-2004A>G) | |
16 | g.51139556T>G | CA395884153 | SALL1 | c.2666A>C (p.Glu889Ala) c.2375A>C (p.Glu792Ala) c.77-2004A>C (n.77-2004A>C) | |
16 | g.51139557C>A | CA395884154 | SALL1 | c.2665G>T (p.Glu889Ter) c.2374G>T (p.Glu792Ter) c.77-2005G>T (n.77-2005G>T) | |
16 | g.51139557C= | CA2222018274 | SALL1 | c.2665G= (p.Glu889=) c.2374G= (p.Glu792=) c.77-2005G= (n.77-2005G=) | |
16 | g.51139557C>G | CA395884155 | SALL1 | c.2665G>C (p.Glu889Gln) c.2374G>C (p.Glu792Gln) c.77-2005G>C (n.77-2005G>C) | |
16 | g.51139557C>T | CA395884156 | SALL1 | c.2665G>A (p.Glu889Lys) c.2374G>A (p.Glu792Lys) c.77-2005G>A (n.77-2005G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |