Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133777116A>C | CA354611177 | TF | c.1940A>C (p.Asp647Ala) c.671A>C n.2934A>C c.1808A>C (p.Asp603Ala) c.1559A>C (p.Asp520Ala) | |
3 | g.133777116A>G | CA354611173 | TF | c.1940A>G (p.Asp647Gly) c.671A>G n.2934A>G c.1808A>G (p.Asp603Gly) c.1559A>G (p.Asp520Gly) | |
3 | g.133777116A>T | CA354611175 | TF | c.1940A>T (p.Asp647Val) c.671A>T n.2934A>T c.1808A>T (p.Asp603Val) c.1559A>T (p.Asp520Val) | gnomAD v4 |
3 | g.133777117C>A | CA354611180 | TF | c.1941C>A (p.Asp647Glu) c.672C>A n.2935C>A c.1809C>A (p.Asp603Glu) c.1560C>A (p.Asp520Glu) | dbSNP gnomAD v4 |
3 | g.133777117C= | CA1403124860 | TF | c.1941C= (p.Asp647=) c.672C= n.2935C= c.1809C= (p.Asp603=) c.1560C= (p.Asp520=) | |
3 | g.133777117C>G | CA354611182 | TF | c.1941C>G (p.Asp647Glu) c.672C>G n.2935C>G c.1809C>G (p.Asp603Glu) c.1560C>G (p.Asp520Glu) | |
3 | g.133777117C>T | CA2625463 | TF | c.1941C>T (p.Asp647=) c.672C>T n.2935C>T c.1809C>T (p.Asp603=) c.1560C>T (p.Asp520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777118C>A | CA354611186 | TF | c.1942C>A (p.Leu648Ile) c.673C>A n.2936C>A c.1810C>A (p.Leu604Ile) c.1561C>A (p.Leu521Ile) | |
3 | g.133777118C= | CA1403124864 | TF | c.1942C= (p.Leu648=) c.673C= n.2936C= c.1810C= (p.Leu604=) c.1561C= (p.Leu521=) | |
3 | g.133777118C>G | CA354611188 | TF | c.1942C>G (p.Leu648Val) c.673C>G n.2936C>G c.1810C>G (p.Leu604Val) c.1561C>G (p.Leu521Val) | |
3 | g.133777118C>T | CA354611190 | TF | c.1942C>T (p.Leu648Phe) c.673C>T n.2936C>T c.1810C>T (p.Leu604Phe) c.1561C>T (p.Leu521Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777119T>A | CA354611192 | TF | c.1943T>A (p.Leu648His) c.674T>A n.2937T>A c.1811T>A (p.Leu604His) c.1562T>A (p.Leu521His) | |
3 | g.133777119T>C | CA354611194 | TF | c.1943T>C (p.Leu648Pro) c.674T>C n.2937T>C c.1811T>C (p.Leu604Pro) c.1562T>C (p.Leu521Pro) | |
3 | g.133777119T>G | CA354611196 | TF | c.1943T>G (p.Leu648Arg) c.674T>G n.2937T>G c.1811T>G (p.Leu604Arg) c.1562T>G (p.Leu521Arg) | |
3 | g.133777120T>A | CA435815927 | TF | c.1944T>A (p.Leu648=) c.675T>A n.2938T>A c.1812T>A (p.Leu604=) c.1563T>A (p.Leu521=) | |
3 | g.133777120T>C | CA435815928 | TF | c.1944T>C (p.Leu648=) c.675T>C n.2938T>C c.1812T>C (p.Leu604=) c.1563T>C (p.Leu521=) | |
3 | g.133777120T>G | CA435815929 | TF | c.1944T>G (p.Leu648=) c.675T>G n.2938T>G c.1812T>G (p.Leu604=) c.1563T>G (p.Leu521=) | |
3 | g.133777121C>A | CA354611198 | TF | c.1945C>A (p.Leu649Met) c.676C>A n.2939C>A c.1813C>A (p.Leu605Met) c.1564C>A (p.Leu522Met) | |
3 | g.133777121C= | CA1403124873 | TF | c.1945C= (p.Leu649=) c.676C= n.2939C= c.1813C= (p.Leu605=) c.1564C= (p.Leu522=) | |
3 | g.133777121C>G | CA354611200 | TF | c.1945C>G (p.Leu649Val) c.676C>G n.2939C>G c.1813C>G (p.Leu605Val) c.1564C>G (p.Leu522Val) | gnomAD v4 |
3 | g.133777121C>T | CA435815930 | TF | c.1945C>T (p.Leu649=) c.676C>T n.2939C>T c.1813C>T (p.Leu605=) c.1564C>T (p.Leu522=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777122T>A | CA354611207 | TF | c.1946T>A (p.Leu649Gln) c.677T>A n.2940T>A c.1814T>A (p.Leu605Gln) c.1565T>A (p.Leu522Gln) | |
3 | g.133777122T>C | CA354611205 | TF | c.1946T>C (p.Leu649Pro) c.677T>C n.2940T>C c.1814T>C (p.Leu605Pro) c.1565T>C (p.Leu522Pro) | |
3 | g.133777122T>G | CA354611203 | TF | c.1946T>G (p.Leu649Arg) c.677T>G n.2940T>G c.1814T>G (p.Leu605Arg) c.1565T>G (p.Leu522Arg) | |
3 | g.133777123G>A | CA435815931 | TF | c.1947G>A (p.Leu649=) c.678G>A n.2941G>A c.1815G>A (p.Leu605=) c.1566G>A (p.Leu522=) | gnomAD v4 |
3 | g.133777123G>C | CA435815932 | TF | c.1947G>C (p.Leu649=) c.678G>C n.2941G>C c.1815G>C (p.Leu605=) c.1566G>C (p.Leu522=) | |
3 | g.133777123G>T | CA435815933 | TF | c.1947G>T (p.Leu649=) c.678G>T n.2941G>T c.1815G>T (p.Leu605=) c.1566G>T (p.Leu522=) | |
3 | g.133777124T>A | CA354611209 | TF | c.1948T>A (p.Phe650Ile) c.679T>A n.2942T>A c.1816T>A (p.Phe606Ile) c.1567T>A (p.Phe523Ile) | |
3 | g.133777124T>C | CA354611213 | TF | c.1948T>C (p.Phe650Leu) c.679T>C n.2942T>C c.1816T>C (p.Phe606Leu) c.1567T>C (p.Phe523Leu) | |
3 | g.133777124T>G | CA354611211 | TF | c.1948T>G (p.Phe650Val) c.679T>G n.2942T>G c.1816T>G (p.Phe606Val) c.1567T>G (p.Phe523Val) | |
3 | g.133777125T>A | CA354611215 | TF | c.1949T>A (p.Phe650Tyr) c.680T>A n.2943T>A c.1817T>A (p.Phe606Tyr) c.1568T>A (p.Phe523Tyr) | |
3 | g.133777125T>C | CA354611220 | TF | c.1949T>C (p.Phe650Ser) c.680T>C n.2943T>C c.1817T>C (p.Phe606Ser) c.1568T>C (p.Phe523Ser) | |
3 | g.133777125T>G | CA354611217 | TF | c.1949T>G (p.Phe650Cys) c.680T>G n.2943T>G c.1817T>G (p.Phe606Cys) c.1568T>G (p.Phe523Cys) | |
3 | g.133777126C>A | CA354611223 | TF | c.1950C>A (p.Phe650Leu) c.681C>A n.2944C>A c.1818C>A (p.Phe606Leu) c.1569C>A (p.Phe523Leu) | |
3 | g.133777126C>G | CA354611225 | TF | c.1950C>G (p.Phe650Leu) c.681C>G n.2944C>G c.1818C>G (p.Phe606Leu) c.1569C>G (p.Phe523Leu) | |
3 | g.133777126C>T | CA435815934 | TF | c.1950C>T (p.Phe650=) c.681C>T n.2944C>T c.1818C>T (p.Phe606=) c.1569C>T (p.Phe523=) | |
3 | g.133777127A>C | CA435815935 | TF | c.1951A>C (p.Arg651=) c.682A>C n.2945A>C c.1819A>C (p.Arg607=) c.1570A>C (p.Arg524=) | |
3 | g.133777127A>G | CA354611228 | TF | c.1951A>G (p.Arg651Gly) c.682A>G n.2945A>G c.1819A>G (p.Arg607Gly) c.1570A>G (p.Arg524Gly) | |
3 | g.133777127A>T | CA354611229 | TF | c.1951A>T (p.Arg651Ter) c.682A>T n.2945A>T c.1819A>T (p.Arg607Ter) c.1570A>T (p.Arg524Ter) | |
3 | g.133777128G>A | CA354611232 | TF | c.1952G>A (p.Arg651Lys) c.683G>A n.2946G>A c.1820G>A (p.Arg607Lys) c.1571G>A (p.Arg524Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777128G>C | CA354611234 | TF | c.1952G>C (p.Arg651Thr) c.683G>C n.2946G>C c.1820G>C (p.Arg607Thr) c.1571G>C (p.Arg524Thr) | dbSNP |
3 | g.133777128G= | CA1403124876 | TF | c.1952G= (p.Arg651=) c.683G= n.2946G= c.1820G= (p.Arg607=) c.1571G= (p.Arg524=) | |
3 | g.133777128G>T | CA354611236 | TF | c.1952G>T (p.Arg651Ile) c.683G>T n.2946G>T c.1820G>T (p.Arg607Ile) c.1571G>T (p.Arg524Ile) | |
3 | g.133777128_133777130del | CA2667772269 | TF | c.1952_1954del (p.Arg651_Asp652delinsAsn) c.683_685del n.2946_2948del c.1820_1822del (p.Arg607_Asp608delinsAsn) c.1571_1573del (p.Arg524_Asp525delinsAsn) | gnomAD v4 |
3 | g.133777129A>C | CA354611238 | TF | c.1953A>C (p.Arg651Ser) c.684A>C n.2947A>C c.1821A>C (p.Arg607Ser) c.1572A>C (p.Arg524Ser) | |
3 | g.133777129A>G | CA435815936 | TF | c.1953A>G (p.Arg651=) c.684A>G n.2947A>G c.1821A>G (p.Arg607=) c.1572A>G (p.Arg524=) | |
3 | g.133777129A>T | CA354611241 | TF | c.1953A>T (p.Arg651Ser) c.684A>T n.2947A>T c.1821A>T (p.Arg607Ser) c.1572A>T (p.Arg524Ser) | |
3 | g.133777130G>A | CA354611244 | TF | c.1954G>A (p.Asp652Asn) c.685G>A n.2948G>A c.1822G>A (p.Asp608Asn) c.1573G>A (p.Asp525Asn) | |
3 | g.133777130G>C | CA354611246 | TF | c.1954G>C (p.Asp652His) c.685G>C n.2948G>C c.1822G>C (p.Asp608His) c.1573G>C (p.Asp525His) | |
3 | g.133777130G= | CA1403124879 | TF | c.1954G= (p.Asp652=) c.685G= n.2948G= c.1822G= (p.Asp608=) c.1573G= (p.Asp525=) | |
3 | g.133777130G>T | CA354611248 | TF | c.1954G>T (p.Asp652Tyr) c.685G>T n.2948G>T c.1822G>T (p.Asp608Tyr) c.1573G>T (p.Asp525Tyr) | dbSNP |
3 | g.133777131A>C | CA354611251 | TF | c.1955A>C (p.Asp652Ala) c.686A>C n.2949A>C c.1823A>C (p.Asp608Ala) c.1574A>C (p.Asp525Ala) | |
3 | g.133777131A>G | CA354611253 | TF | c.1955A>G (p.Asp652Gly) c.686A>G n.2949A>G c.1823A>G (p.Asp608Gly) c.1574A>G (p.Asp525Gly) | |
3 | g.133777131A>T | CA354611255 | TF | c.1955A>T (p.Asp652Val) c.686A>T n.2949A>T c.1823A>T (p.Asp608Val) c.1574A>T (p.Asp525Val) | gnomAD v4 |
3 | g.133777132T>A | CA354611257 | TF | c.1956T>A (p.Asp652Glu) c.687T>A n.2950T>A c.1824T>A (p.Asp608Glu) c.1575T>A (p.Asp525Glu) | gnomAD v4 |
3 | g.133777132T>C | CA83694373 | TF | c.1956T>C (p.Asp652=) c.687T>C n.2950T>C c.1824T>C (p.Asp608=) c.1575T>C (p.Asp525=) | dbSNP |
3 | g.133777132T>G | CA354611259 | TF | c.1956T>G (p.Asp652Glu) c.687T>G n.2950T>G c.1824T>G (p.Asp608Glu) c.1575T>G (p.Asp525Glu) | |
3 | g.133777132T= | CA1403124882 | TF | c.1956T= (p.Asp652=) c.687T= n.2950T= c.1824T= (p.Asp608=) c.1575T= (p.Asp525=) | |
3 | g.133777133G>A | CA83694379 | TF | c.1957G>A (p.Asp653Asn) c.688G>A n.2951G>A c.1825G>A (p.Asp609Asn) c.1576G>A (p.Asp526Asn) | dbSNP |
3 | g.133777133G>C | CA354611265 | TF | c.1957G>C (p.Asp653His) c.688G>C n.2951G>C c.1825G>C (p.Asp609His) c.1576G>C (p.Asp526His) | |
3 | g.133777133G= | CA1403124887 | TF | c.1957G= (p.Asp653=) c.688G= n.2951G= c.1825G= (p.Asp609=) c.1576G= (p.Asp526=) | |
3 | g.133777133G>T | CA354611263 | TF | c.1957G>T (p.Asp653Tyr) c.688G>T n.2951G>T c.1825G>T (p.Asp609Tyr) c.1576G>T (p.Asp526Tyr) | gnomAD v4 |
3 | g.133777134A= | CA1403124891 | TF | c.1958A= (p.Asp653=) c.689A= n.2952A= c.1826A= (p.Asp609=) c.1577A= (p.Asp526=) | |
3 | g.133777134A>C | CA354611267 | TF | c.1958A>C (p.Asp653Ala) c.689A>C n.2952A>C c.1826A>C (p.Asp609Ala) c.1577A>C (p.Asp526Ala) | |
3 | g.133777134A>G | CA354611269 | TF | c.1958A>G (p.Asp653Gly) c.689A>G n.2952A>G c.1826A>G (p.Asp609Gly) c.1577A>G (p.Asp526Gly) | dbSNP |
3 | g.133777134A>T | CA354611271 | TF | c.1958A>T (p.Asp653Val) c.689A>T n.2952A>T c.1826A>T (p.Asp609Val) c.1577A>T (p.Asp526Val) | |
3 | g.133777135C>A | CA354611272 | TF | c.1959C>A (p.Asp653Glu) c.690C>A n.2953C>A c.1827C>A (p.Asp609Glu) c.1578C>A (p.Asp526Glu) | |
3 | g.133777135C>G | CA354611273 | TF | c.1959C>G (p.Asp653Glu) c.690C>G n.2953C>G c.1827C>G (p.Asp609Glu) c.1578C>G (p.Asp526Glu) | |
3 | g.133777135C>T | CA435815937 | TF | c.1959C>T (p.Asp653=) c.690C>T n.2953C>T c.1827C>T (p.Asp609=) c.1578C>T (p.Asp526=) | gnomAD v4 |
3 | g.133777136A>C | CA354611274 | TF | c.1960A>C (p.Thr654Pro) c.691A>C n.2954A>C c.1828A>C (p.Thr610Pro) c.1579A>C (p.Thr527Pro) | |
3 | g.133777136A>G | CA354611275 | TF | c.1960A>G (p.Thr654Ala) c.691A>G n.2954A>G c.1828A>G (p.Thr610Ala) c.1579A>G (p.Thr527Ala) | |
3 | g.133777136A>T | CA354611276 | TF | c.1960A>T (p.Thr654Ser) c.691A>T n.2954A>T c.1828A>T (p.Thr610Ser) c.1579A>T (p.Thr527Ser) | |
3 | g.133777137C>A | CA354611277 | TF | c.1961C>A (p.Thr654Lys) c.692C>A n.2955C>A c.1829C>A (p.Thr610Lys) c.1580C>A (p.Thr527Lys) | |
3 | g.133777137C= | CA1403124899 | TF | c.1961C= (p.Thr654=) c.692C= n.2955C= c.1829C= (p.Thr610=) c.1580C= (p.Thr527=) | |
3 | g.133777137C>G | CA354611278 | TF | c.1961C>G (p.Thr654Arg) c.692C>G n.2955C>G c.1829C>G (p.Thr610Arg) c.1580C>G (p.Thr527Arg) | COSMIC |
3 | g.133777137C>T | CA354611279 | TF | c.1961C>T (p.Thr654Ile) c.692C>T n.2955C>T c.1829C>T (p.Thr610Ile) c.1580C>T (p.Thr527Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777138A= | CA1403124907 | TF | c.1962A= (p.Thr654=) c.693A= n.2956A= c.1830A= (p.Thr610=) c.1581A= (p.Thr527=) | |
3 | g.133777138A>C | CA2625464 | TF | c.1962A>C (p.Thr654=) c.693A>C n.2956A>C c.1830A>C (p.Thr610=) c.1581A>C (p.Thr527=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777138A>G | CA435815938 | TF | c.1962A>G (p.Thr654=) c.693A>G n.2956A>G c.1830A>G (p.Thr610=) c.1581A>G (p.Thr527=) | |
3 | g.133777138A>T | CA435815939 | TF | c.1962A>T (p.Thr654=) c.693A>T n.2956A>T c.1830A>T (p.Thr610=) c.1581A>T (p.Thr527=) | |
3 | g.133777139G>A | CA354611284 | TF | c.1963G>A (p.Val655Ile) c.694G>A n.2957G>A c.1831G>A (p.Val611Ile) c.1582G>A (p.Val528Ile) | gnomAD v4 COSMIC |
3 | g.133777139G>C | CA354611280 | TF | c.1963G>C (p.Val655Leu) c.694G>C n.2957G>C c.1831G>C (p.Val611Leu) c.1582G>C (p.Val528Leu) | |
3 | g.133777139G>T | CA354611283 | TF | c.1963G>T (p.Val655Leu) c.694G>T n.2957G>T c.1831G>T (p.Val611Leu) c.1582G>T (p.Val528Leu) | |
3 | g.133777140T>A | CA354611286 | TF | c.1964T>A (p.Val655Glu) c.695T>A n.2958T>A c.1832T>A (p.Val611Glu) c.1583T>A (p.Val528Glu) | |
3 | g.133777140T>C | CA354611288 | TF | c.1964T>C (p.Val655Ala) c.695T>C n.2958T>C c.1832T>C (p.Val611Ala) c.1583T>C (p.Val528Ala) | |
3 | g.133777140T>G | CA354611290 | TF | c.1964T>G (p.Val655Gly) c.695T>G n.2958T>G c.1832T>G (p.Val611Gly) c.1583T>G (p.Val528Gly) | |
3 | g.133777141A= | CA1403124911 | TF | c.1965A= (p.Val655=) c.696A= n.2959A= c.1833A= (p.Val611=) c.1584A= (p.Val528=) | |
3 | g.133777141A>C | CA435815940 | TF | c.1965A>C (p.Val655=) c.696A>C n.2959A>C c.1833A>C (p.Val611=) c.1584A>C (p.Val528=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777141A>G | CA2625465 | TF | c.1965A>G (p.Val655=) c.696A>G n.2959A>G c.1833A>G (p.Val611=) c.1584A>G (p.Val528=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777141A>T | CA435815941 | TF | c.1965A>T (p.Val655=) c.696A>T n.2959A>T c.1833A>T (p.Val611=) c.1584A>T (p.Val528=) | |
3 | g.133777142T>A | CA354611294 | TF | c.1966T>A (p.Cys656Ser) c.697T>A n.2960T>A c.1834T>A (p.Cys612Ser) c.1585T>A (p.Cys529Ser) | |
3 | g.133777142T>C | CA354611295 | TF | c.1966T>C (p.Cys656Arg) c.697T>C n.2960T>C c.1834T>C (p.Cys612Arg) c.1585T>C (p.Cys529Arg) | |
3 | g.133777142T>G | CA354611296 | TF | c.1966T>G (p.Cys656Gly) c.697T>G n.2960T>G c.1834T>G (p.Cys612Gly) c.1585T>G (p.Cys529Gly) | |
3 | g.133777144_133777147del | CA2577907430 | TF | c.1968_1971del (p.Cys656TrpfsTer14) c.699_702del n.2962_2965del c.1836_1839del (p.Cys612TrpfsTer14) c.1587_1590del (p.Cys529TrpfsTer14) | |
3 | g.133777143G>A | CA354611299 | TF | c.1967G>A (p.Cys656Tyr) c.698G>A n.2961G>A c.1835G>A (p.Cys612Tyr) c.1586G>A (p.Cys529Tyr) | gnomAD v4 |
3 | g.133777143G>C | CA354611301 | TF | c.1967G>C (p.Cys656Ser) c.698G>C n.2961G>C c.1835G>C (p.Cys612Ser) c.1586G>C (p.Cys529Ser) | |
3 | g.133777143G>T | CA354611302 | TF | c.1967G>T (p.Cys656Phe) c.698G>T n.2961G>T c.1835G>T (p.Cys612Phe) c.1586G>T (p.Cys529Phe) | |
3 | g.133777144T>A | CA354611307 | TF | c.1968T>A (p.Cys656Ter) c.699T>A n.2962T>A c.1836T>A (p.Cys612Ter) c.1587T>A (p.Cys529Ter) | |
3 | g.133777144T>C | CA435815942 | TF | c.1968T>C (p.Cys656=) c.699T>C n.2962T>C c.1836T>C (p.Cys612=) c.1587T>C (p.Cys529=) | |
3 | g.133777144T>G | CA354611305 | TF | c.1968T>G (p.Cys656Trp) c.699T>G n.2962T>G c.1836T>G (p.Cys612Trp) c.1587T>G (p.Cys529Trp) | |
3 | g.133777145T>A | CA354611310 | TF | c.1969T>A (p.Leu657Met) c.700T>A n.2963T>A c.1837T>A (p.Leu613Met) c.1588T>A (p.Leu530Met) | |
3 | g.133777145T>C | CA435815943 | TF | c.1969T>C (p.Leu657=) c.700T>C n.2963T>C c.1837T>C (p.Leu613=) c.1588T>C (p.Leu530=) | |
3 | g.133777145T>G | CA354611311 | TF | c.1969T>G (p.Leu657Val) c.700T>G n.2963T>G c.1837T>G (p.Leu613Val) c.1588T>G (p.Leu530Val) | |
3 | g.133777146T>A | CA354611313 | TF | c.1970T>A (p.Leu657Ter) c.701T>A n.2964T>A c.1838T>A (p.Leu613Ter) c.1589T>A (p.Leu530Ter) | |
3 | g.133777146T>C | CA354611315 | TF | c.1970T>C (p.Leu657Ser) c.701T>C n.2964T>C c.1838T>C (p.Leu613Ser) c.1589T>C (p.Leu530Ser) | |
3 | g.133777146T>G | CA354611317 | TF | c.1970T>G (p.Leu657Trp) c.701T>G n.2964T>G c.1838T>G (p.Leu613Trp) c.1589T>G (p.Leu530Trp) | |
3 | g.133777147G>A | CA435815944 | TF | c.1971G>A (p.Leu657=) c.702G>A n.2965G>A c.1839G>A (p.Leu613=) c.1590G>A (p.Leu530=) | |
3 | g.133777147G>C | CA354611320 | TF | c.1971G>C (p.Leu657Phe) c.702G>C n.2965G>C c.1839G>C (p.Leu613Phe) c.1590G>C (p.Leu530Phe) | |
3 | g.133777147G>T | CA354611322 | TF | c.1971G>T (p.Leu657Phe) c.702G>T n.2965G>T c.1839G>T (p.Leu613Phe) c.1590G>T (p.Leu530Phe) | |
3 | g.133777148G>A | CA354611325 | TF | c.1972G>A (p.Ala658Thr) c.703G>A n.2966G>A c.1840G>A (p.Ala614Thr) c.1591G>A (p.Ala531Thr) | gnomAD v4 |
3 | g.133777148G>C | CA354611327 | TF | c.1972G>C (p.Ala658Pro) c.703G>C n.2966G>C c.1840G>C (p.Ala614Pro) c.1591G>C (p.Ala531Pro) | |
3 | g.133777148G>T | CA354611329 | TF | c.1972G>T (p.Ala658Ser) c.703G>T n.2966G>T c.1840G>T (p.Ala614Ser) c.1591G>T (p.Ala531Ser) | |
3 | g.133777149C>A | CA354611331 | TF | c.1973C>A (p.Ala658Asp) c.704C>A n.2967C>A c.1841C>A (p.Ala614Asp) c.1592C>A (p.Ala531Asp) | |
3 | g.133777149C>G | CA354611333 | TF | c.1973C>G (p.Ala658Gly) c.704C>G n.2967C>G c.1841C>G (p.Ala614Gly) c.1592C>G (p.Ala531Gly) | |
3 | g.133777149C>T | CA354611335 | TF | c.1973C>T (p.Ala658Val) c.704C>T n.2967C>T c.1841C>T (p.Ala614Val) c.1592C>T (p.Ala531Val) | |
3 | g.133777150C>A | CA435815945 | TF | c.1974C>A (p.Ala658=) c.705C>A n.2968C>A c.1842C>A (p.Ala614=) c.1593C>A (p.Ala531=) | |
3 | g.133777150C= | CA1403124917 | TF | c.1974C= (p.Ala658=) c.705C= n.2968C= c.1842C= (p.Ala614=) c.1593C= (p.Ala531=) | |
3 | g.133777150C>G | CA435815946 | TF | c.1974C>G (p.Ala658=) c.705C>G n.2968C>G c.1842C>G (p.Ala614=) c.1593C>G (p.Ala531=) | |
3 | g.133777150C>T | CA2625466 | TF | c.1974C>T (p.Ala658=) c.705C>T n.2968C>T c.1842C>T (p.Ala614=) c.1593C>T (p.Ala531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777151A>C | CA354611341 | TF | c.1975A>C (p.Lys659Gln) c.706A>C n.2969A>C c.1843A>C (p.Lys615Gln) c.1594A>C (p.Lys532Gln) | |
3 | g.133777151A>G | CA354611339 | TF | c.1975A>G (p.Lys659Glu) c.706A>G n.2969A>G c.1843A>G (p.Lys615Glu) c.1594A>G (p.Lys532Glu) | |
3 | g.133777151A>T | CA354611343 | TF | c.1975A>T (p.Lys659Ter) c.706A>T n.2969A>T c.1843A>T (p.Lys615Ter) c.1594A>T (p.Lys532Ter) | |
3 | g.133777152A>C | CA354611345 | TF | c.1976A>C (p.Lys659Thr) c.707A>C n.2970A>C c.1844A>C (p.Lys615Thr) c.1595A>C (p.Lys532Thr) | |
3 | g.133777152A>G | CA354611346 | TF | c.1976A>G (p.Lys659Arg) c.707A>G n.2970A>G c.1844A>G (p.Lys615Arg) c.1595A>G (p.Lys532Arg) | |
3 | g.133777152A>T | CA354611347 | TF | c.1976A>T (p.Lys659Ile) c.707A>T n.2970A>T c.1844A>T (p.Lys615Ile) c.1595A>T (p.Lys532Ile) | |
3 | g.133777153A>C | CA354611348 | TF | c.1977A>C (p.Lys659Asn) c.708A>C n.2971A>C c.1845A>C (p.Lys615Asn) c.1596A>C (p.Lys532Asn) | |
3 | g.133777153A>G | CA435815947 | TF | c.1977A>G (p.Lys659=) c.708A>G n.2971A>G c.1845A>G (p.Lys615=) c.1596A>G (p.Lys532=) | gnomAD v4 |
3 | g.133777153A>T | CA354611349 | TF | c.1977A>T (p.Lys659Asn) c.708A>T n.2971A>T c.1845A>T (p.Lys615Asn) c.1596A>T (p.Lys532Asn) | |
3 | g.133777154C>A | CA354611350 | TF | c.1978C>A (p.Leu660Ile) c.709C>A n.2972C>A c.1846C>A (p.Leu616Ile) c.1597C>A (p.Leu533Ile) | gnomAD v4 |
3 | g.133777154C= | CA1403124922 | TF | c.1978C= (p.Leu660=) c.709C= n.2972C= c.1846C= (p.Leu616=) c.1597C= (p.Leu533=) | |
3 | g.133777154C>G | CA354611351 | TF | c.1978C>G (p.Leu660Val) c.709C>G n.2972C>G c.1846C>G (p.Leu616Val) c.1597C>G (p.Leu533Val) | |
3 | g.133777154C>T | CA354611352 | TF | c.1978C>T (p.Leu660Phe) c.709C>T n.2972C>T c.1846C>T (p.Leu616Phe) c.1597C>T (p.Leu533Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777155T>A | CA354611353 | TF | c.1979T>A (p.Leu660His) c.710T>A n.2973T>A c.1847T>A (p.Leu616His) c.1598T>A (p.Leu533His) | |
3 | g.133777155T>C | CA354611354 | TF | c.1979T>C (p.Leu660Pro) c.710T>C n.2973T>C c.1847T>C (p.Leu616Pro) c.1598T>C (p.Leu533Pro) | |
3 | g.133777155T>G | CA354611355 | TF | c.1979T>G (p.Leu660Arg) c.710T>G n.2973T>G c.1847T>G (p.Leu616Arg) c.1598T>G (p.Leu533Arg) | |
3 | g.133777156T>A | CA435815948 | TF | c.1980T>A (p.Leu660=) c.711T>A n.2974T>A c.1848T>A (p.Leu616=) c.1599T>A (p.Leu533=) | |
3 | g.133777156T>C | CA435815949 | TF | c.1980T>C (p.Leu660=) c.711T>C n.2974T>C c.1848T>C (p.Leu616=) c.1599T>C (p.Leu533=) | |
3 | g.133777156T>G | CA435815950 | TF | c.1980T>G (p.Leu660=) c.711T>G n.2974T>G c.1848T>G (p.Leu616=) c.1599T>G (p.Leu533=) | dbSNP |
3 | g.133777156T= | CA1403124927 | TF | c.1980T= (p.Leu660=) c.711T= n.2974T= c.1848T= (p.Leu616=) c.1599T= (p.Leu533=) | |
3 | g.133777157C>A | CA354611357 | TF | c.1981C>A (p.His661Asn) c.712C>A n.2975C>A c.1849C>A (p.His617Asn) c.1600C>A (p.His534Asn) | |
3 | g.133777157C= | CA1403124933 | TF | c.1981C= (p.His661=) c.712C= n.2975C= c.1849C= (p.His617=) c.1600C= (p.His534=) | |
3 | g.133777157C>G | CA354611356 | TF | c.1981C>G (p.His661Asp) c.712C>G n.2975C>G c.1849C>G (p.His617Asp) c.1600C>G (p.His534Asp) | |
3 | g.133777157C>T | CA83694397 | TF | c.1981C>T (p.His661Tyr) c.712C>T n.2975C>T c.1849C>T (p.His617Tyr) c.1600C>T (p.His534Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.133777158A= | CA1403124939 | TF | c.1982A= (p.His661=) c.713A= n.2976A= c.1850A= (p.His617=) c.1601A= (p.His534=) | |
3 | g.133777158A>C | CA354611358 | TF | c.1982A>C (p.His661Pro) c.713A>C n.2976A>C c.1850A>C (p.His617Pro) c.1601A>C (p.His534Pro) | |
3 | g.133777158A>G | CA354611359 | TF | c.1982A>G (p.His661Arg) c.713A>G n.2976A>G c.1850A>G (p.His617Arg) c.1601A>G (p.His534Arg) | dbSNP gnomAD v4 |
3 | g.133777158A>T | CA354611360 | TF | c.1982A>T (p.His661Leu) c.713A>T n.2976A>T c.1850A>T (p.His617Leu) c.1601A>T (p.His534Leu) | |
3 | g.133777162_133777176del | CA645516351 | TF | c.1986_2000del (p.Asp662_Tyr666del) c.717_731del n.2980_2994del c.1854_1868del (p.Asp618_Tyr622del) c.1605_1619del (p.Asp535_Tyr539del) | COSMIC |
3 | g.133777159T>A | CA354611361 | TF | c.1983T>A (p.His661Gln) c.714T>A n.2977T>A c.1851T>A (p.His617Gln) c.1602T>A (p.His534Gln) | |
3 | g.133777159T>C | CA435815951 | TF | c.1983T>C (p.His661=) c.714T>C n.2977T>C c.1851T>C (p.His617=) c.1602T>C (p.His534=) | gnomAD v4 |
3 | g.133777159T>G | CA354611362 | TF | c.1983T>G (p.His661Gln) c.714T>G n.2977T>G c.1851T>G (p.His617Gln) c.1602T>G (p.His534Gln) | |
3 | g.133777160G>A | CA354611363 | TF | c.1984G>A (p.Asp662Asn) c.715G>A n.2978G>A c.1852G>A (p.Asp618Asn) c.1603G>A (p.Asp535Asn) | |
3 | g.133777160G>C | CA354611364 | TF | c.1984G>C (p.Asp662His) c.715G>C n.2978G>C c.1852G>C (p.Asp618His) c.1603G>C (p.Asp535His) | gnomAD v4 |
3 | g.133777160G>T | CA354611365 | TF | c.1984G>T (p.Asp662Tyr) c.715G>T n.2978G>T c.1852G>T (p.Asp618Tyr) c.1603G>T (p.Asp535Tyr) | |
3 | g.133777161A>C | CA354611366 | TF | c.1985A>C (p.Asp662Ala) c.716A>C n.2979A>C c.1853A>C (p.Asp618Ala) c.1604A>C (p.Asp535Ala) | |
3 | g.133777161A>G | CA354611367 | TF | c.1985A>G (p.Asp662Gly) c.716A>G n.2979A>G c.1853A>G (p.Asp618Gly) c.1604A>G (p.Asp535Gly) | |
3 | g.133777161A>T | CA354611368 | TF | c.1985A>T (p.Asp662Val) c.716A>T n.2979A>T c.1853A>T (p.Asp618Val) c.1604A>T (p.Asp535Val) | |
3 | g.133777162C>A | CA354611369 | TF | c.1986C>A (p.Asp662Glu) c.717C>A n.2980C>A c.1854C>A (p.Asp618Glu) c.1605C>A (p.Asp535Glu) | |
3 | g.133777162C>G | CA354611370 | TF | c.1986C>G (p.Asp662Glu) c.717C>G n.2980C>G c.1854C>G (p.Asp618Glu) c.1605C>G (p.Asp535Glu) | |
3 | g.133777162C>T | CA435815952 | TF | c.1986C>T (p.Asp662=) c.717C>T n.2980C>T c.1854C>T (p.Asp618=) c.1605C>T (p.Asp535=) | |
3 | g.133777163A= | CA1403124941 | TF | c.1987A= (p.Arg663=) c.718A= n.2981A= c.1855A= (p.Arg619=) c.1606A= (p.Arg536=) | |
3 | g.133777163A>C | CA435815953 | TF | c.1987A>C (p.Arg663=) c.718A>C n.2981A>C c.1855A>C (p.Arg619=) c.1606A>C (p.Arg536=) | |
3 | g.133777163A>G | CA2625467 | TF | c.1987A>G (p.Arg663Gly) c.718A>G n.2981A>G c.1855A>G (p.Arg619Gly) c.1606A>G (p.Arg536Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777163A>T | CA354611371 | TF | c.1987A>T (p.Arg663Ter) c.718A>T n.2981A>T c.1855A>T (p.Arg619Ter) c.1606A>T (p.Arg536Ter) | |
3 | g.133777164G>A | CA354611372 | TF | c.1988G>A (p.Arg663Lys) c.719G>A n.2982G>A c.1856G>A (p.Arg619Lys) c.1607G>A (p.Arg536Lys) | COSMIC |
3 | g.133777164G>C | CA354611373 | TF | c.1988G>C (p.Arg663Thr) c.719G>C n.2982G>C c.1856G>C (p.Arg619Thr) c.1607G>C (p.Arg536Thr) | |
3 | g.133777164G>T | CA354611374 | TF | c.1988G>T (p.Arg663Ile) c.719G>T n.2982G>T c.1856G>T (p.Arg619Ile) c.1607G>T (p.Arg536Ile) | |
3 | g.133777165A>C | CA354611375 | TF | c.1989A>C (p.Arg663Ser) c.720A>C n.2983A>C c.1857A>C (p.Arg619Ser) c.1608A>C (p.Arg536Ser) | |
3 | g.133777165A>G | CA435815954 | TF | c.1989A>G (p.Arg663=) c.720A>G n.2983A>G c.1857A>G (p.Arg619=) c.1608A>G (p.Arg536=) | |
3 | g.133777165A>T | CA354611376 | TF | c.1989A>T (p.Arg663Ser) c.720A>T n.2983A>T c.1857A>T (p.Arg619Ser) c.1608A>T (p.Arg536Ser) | |
3 | g.133777166A= | CA1403124944 | TF | c.1990A= (p.Asn664=) c.721A= n.2984A= c.1858A= (p.Asn620=) c.1609A= (p.Asn537=) | |
3 | g.133777166A>C | CA354611377 | TF | c.1990A>C (p.Asn664His) c.721A>C n.2984A>C c.1858A>C (p.Asn620His) c.1609A>C (p.Asn537His) | |
3 | g.133777166A>G | CA354611378 | TF | c.1990A>G (p.Asn664Asp) c.721A>G n.2984A>G c.1858A>G (p.Asn620Asp) c.1609A>G (p.Asn537Asp) | |
3 | g.133777166A>T | CA354611379 | TF | c.1990A>T (p.Asn664Tyr) c.721A>T n.2984A>T c.1858A>T (p.Asn620Tyr) c.1609A>T (p.Asn537Tyr) | dbSNP gnomAD v4 |
3 | g.133777167A>C | CA354611380 | TF | c.1991A>C (p.Asn664Thr) c.722A>C n.2985A>C c.1859A>C (p.Asn620Thr) c.1610A>C (p.Asn537Thr) | |
3 | g.133777167A>G | CA354611381 | TF | c.1991A>G (p.Asn664Ser) c.722A>G n.2985A>G c.1859A>G (p.Asn620Ser) c.1610A>G (p.Asn537Ser) | |
3 | g.133777167A>T | CA354611382 | TF | c.1991A>T (p.Asn664Ile) c.722A>T n.2985A>T c.1859A>T (p.Asn620Ile) c.1610A>T (p.Asn537Ile) | |
3 | g.133777168C>A | CA354611383 | TF | c.1992C>A (p.Asn664Lys) c.723C>A n.2986C>A c.1860C>A (p.Asn620Lys) c.1611C>A (p.Asn537Lys) | |
3 | g.133777168C= | CA1403124951 | TF | c.1992C= (p.Asn664=) c.723C= n.2986C= c.1860C= (p.Asn620=) c.1611C= (p.Asn537=) | |
3 | g.133777168C>G | CA83694409 | TF | c.1992C>G (p.Asn664Lys) c.723C>G n.2986C>G c.1860C>G (p.Asn620Lys) c.1611C>G (p.Asn537Lys) | dbSNP gnomAD v4 |
3 | g.133777168C>T | CA435815955 | TF | c.1992C>T (p.Asn664=) c.723C>T n.2986C>T c.1860C>T (p.Asn620=) c.1611C>T (p.Asn537=) | |
3 | g.133777169A>C | CA354611384 | TF | c.1993A>C (p.Thr665Pro) c.724A>C n.2987A>C c.1861A>C (p.Thr621Pro) c.1612A>C (p.Thr538Pro) | |
3 | g.133777169A>G | CA354611386 | TF | c.1993A>G (p.Thr665Ala) c.724A>G n.2987A>G c.1861A>G (p.Thr621Ala) c.1612A>G (p.Thr538Ala) | gnomAD v4 |
3 | g.133777169A>T | CA354611385 | TF | c.1993A>T (p.Thr665Ser) c.724A>T n.2987A>T c.1861A>T (p.Thr621Ser) c.1612A>T (p.Thr538Ser) | |
3 | g.133777170C>A | CA354611387 | TF | c.1994C>A (p.Thr665Lys) c.725C>A n.2988C>A c.1862C>A (p.Thr621Lys) c.1613C>A (p.Thr538Lys) | |
3 | g.133777170C>G | CA354611388 | TF | c.1994C>G (p.Thr665Arg) c.725C>G n.2988C>G c.1862C>G (p.Thr621Arg) c.1613C>G (p.Thr538Arg) | |
3 | g.133777170C>T | CA354611389 | TF | c.1994C>T (p.Thr665Ile) c.725C>T n.2988C>T c.1862C>T (p.Thr621Ile) c.1613C>T (p.Thr538Ile) | |
3 | g.133777171A= | CA1403124954 | TF | c.1995A= (p.Thr665=) c.726A= n.2989A= c.1863A= (p.Thr621=) c.1614A= (p.Thr538=) | |
3 | g.133777171A>C | CA435815956 | TF | c.1995A>C (p.Thr665=) c.726A>C n.2989A>C c.1863A>C (p.Thr621=) c.1614A>C (p.Thr538=) | |
3 | g.133777171A>G | CA435815957 | TF | c.1995A>G (p.Thr665=) c.726A>G n.2989A>G c.1863A>G (p.Thr621=) c.1614A>G (p.Thr538=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777171A>T | CA435815958 | TF | c.1995A>T (p.Thr665=) c.726A>T n.2989A>T c.1863A>T (p.Thr621=) c.1614A>T (p.Thr538=) | gnomAD v4 |
3 | g.133777172T>A | CA2625468 | TF | c.1996T>A (p.Tyr666Asn) c.727T>A n.2990T>A c.1864T>A (p.Tyr622Asn) c.1615T>A (p.Tyr539Asn) | dbSNP ExAC gnomAD v2 |
3 | g.133777172T>C | CA354611390 | TF | c.1996T>C (p.Tyr666His) c.727T>C n.2990T>C c.1864T>C (p.Tyr622His) c.1615T>C (p.Tyr539His) | gnomAD v4 |
3 | g.133777172T>G | CA354611391 | TF | c.1996T>G (p.Tyr666Asp) c.727T>G n.2990T>G c.1864T>G (p.Tyr622Asp) c.1615T>G (p.Tyr539Asp) | |
3 | g.133777172T= | CA1403124957 | TF | c.1996T= (p.Tyr666=) c.727T= n.2990T= c.1864T= (p.Tyr622=) c.1615T= (p.Tyr539=) | |
3 | g.133777173A= | CA1403124960 | TF | c.1997A= (p.Tyr666=) c.728A= n.2991A= c.1865A= (p.Tyr622=) c.1616A= (p.Tyr539=) | |
3 | g.133777173A>C | CA354611392 | TF | c.1997A>C (p.Tyr666Ser) c.728A>C n.2991A>C c.1865A>C (p.Tyr622Ser) c.1616A>C (p.Tyr539Ser) | |
3 | g.133777173A>G | CA354611393 | TF | c.1997A>G (p.Tyr666Cys) c.728A>G n.2991A>G c.1865A>G (p.Tyr622Cys) c.1616A>G (p.Tyr539Cys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777173A>T | CA354611394 | TF | c.1997A>T (p.Tyr666Phe) c.728A>T n.2991A>T c.1865A>T (p.Tyr622Phe) c.1616A>T (p.Tyr539Phe) | |
3 | g.133777174T>A | CA354611395 | TF | c.1998T>A (p.Tyr666Ter) c.729T>A n.2992T>A c.1866T>A (p.Tyr622Ter) c.1617T>A (p.Tyr539Ter) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777174T>C | CA83694413 | TF | c.1998T>C (p.Tyr666=) c.729T>C n.2992T>C c.1866T>C (p.Tyr622=) c.1617T>C (p.Tyr539=) | dbSNP gnomAD v4 |
3 | g.133777174T>G | CA354611396 | TF | c.1998T>G (p.Tyr666Ter) c.729T>G n.2992T>G c.1866T>G (p.Tyr622Ter) c.1617T>G (p.Tyr539Ter) | |
3 | g.133777174T= | CA1403124967 | TF | c.1998T= (p.Tyr666=) c.729T= n.2992T= c.1866T= (p.Tyr622=) c.1617T= (p.Tyr539=) | |
3 | g.133777175G>A | CA354611398 | TF | c.1999G>A (p.Glu667Lys) c.730G>A n.2993G>A c.1867G>A (p.Glu623Lys) c.1618G>A (p.Glu540Lys) | |
3 | g.133777175G>C | CA354611399 | TF | c.1999G>C (p.Glu667Gln) c.730G>C n.2993G>C c.1867G>C (p.Glu623Gln) c.1618G>C (p.Glu540Gln) | |
3 | g.133777175G>T | CA354611397 | TF | c.1999G>T (p.Glu667Ter) c.730G>T n.2993G>T c.1867G>T (p.Glu623Ter) c.1618G>T (p.Glu540Ter) | |
3 | g.133777176A>C | CA354611401 | TF | c.2000A>C (p.Glu667Ala) c.731A>C n.2994A>C c.1868A>C (p.Glu623Ala) c.1619A>C (p.Glu540Ala) | |
3 | g.133777176A>G | CA354611400 | TF | c.2000A>G (p.Glu667Gly) c.731A>G n.2994A>G c.1868A>G (p.Glu623Gly) c.1619A>G (p.Glu540Gly) | |
3 | g.133777176A>T | CA354611402 | TF | c.2000A>T (p.Glu667Val) c.731A>T n.2994A>T c.1868A>T (p.Glu623Val) c.1619A>T (p.Glu540Val) | |
3 | g.133777177A= | CA1403124971 | TF | c.2001A= (p.Glu667=) c.732A= n.2995A= c.1869A= (p.Glu623=) c.1620A= (p.Glu540=) | |
3 | g.133777177A>C | CA354611403 | TF | c.2001A>C (p.Glu667Asp) c.732A>C n.2995A>C c.1869A>C (p.Glu623Asp) c.1620A>C (p.Glu540Asp) | gnomAD v4 |
3 | g.133777177A>G | CA435815959 | TF | c.2001A>G (p.Glu667=) c.732A>G n.2995A>G c.1869A>G (p.Glu623=) c.1620A>G (p.Glu540=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.133777177A>T | CA354611404 | TF | c.2001A>T (p.Glu667Asp) c.732A>T n.2995A>T c.1869A>T (p.Glu623Asp) c.1620A>T (p.Glu540Asp) | |
3 | g.133777178A>C | CA354611405 | TF | c.2002A>C (p.Lys668Gln) c.733A>C n.2996A>C c.1870A>C (p.Lys624Gln) c.1621A>C (p.Lys541Gln) | |
3 | g.133777178A>G | CA354611406 | TF | c.2002A>G (p.Lys668Glu) c.733A>G n.2996A>G c.1870A>G (p.Lys624Glu) c.1621A>G (p.Lys541Glu) | |
3 | g.133777178A>T | CA354611407 | TF | c.2002A>T (p.Lys668Ter) c.733A>T n.2996A>T c.1870A>T (p.Lys624Ter) c.1621A>T (p.Lys541Ter) | |
3 | g.133777179A>C | CA354611408 | TF | c.2003A>C (p.Lys668Thr) c.734A>C n.2997A>C c.1871A>C (p.Lys624Thr) c.1622A>C (p.Lys541Thr) | |
3 | g.133777179A>G | CA354611409 | TF | c.2003A>G (p.Lys668Arg) c.734A>G n.2997A>G c.1871A>G (p.Lys624Arg) c.1622A>G (p.Lys541Arg) | |
3 | g.133777179A>T | CA354611410 | TF | c.2003A>T (p.Lys668Ile) c.734A>T n.2997A>T c.1871A>T (p.Lys624Ile) c.1622A>T (p.Lys541Ile) | |
3 | g.133777180A>C | CA354611411 | TF | c.2004A>C (p.Lys668Asn) c.735A>C n.2998A>C c.1872A>C (p.Lys624Asn) c.1623A>C (p.Lys541Asn) | |
3 | g.133777180A>G | CA435815960 | TF | c.2004A>G (p.Lys668=) c.735A>G n.2998A>G c.1872A>G (p.Lys624=) c.1623A>G (p.Lys541=) | |
3 | g.133777180A>T | CA354611412 | TF | c.2004A>T (p.Lys668Asn) c.735A>T n.2998A>T c.1872A>T (p.Lys624Asn) c.1623A>T (p.Lys541Asn) | |
3 | g.133777181T>A | CA354611413 | TF | c.2005T>A (p.Tyr669Asn) c.736T>A n.2999T>A c.1873T>A (p.Tyr625Asn) c.1624T>A (p.Tyr542Asn) | |
3 | g.133777181T>C | CA354611414 | TF | c.2005T>C (p.Tyr669His) c.736T>C n.2999T>C c.1873T>C (p.Tyr625His) c.1624T>C (p.Tyr542His) | |
3 | g.133777181T>G | CA354611415 | TF | c.2005T>G (p.Tyr669Asp) c.736T>G n.2999T>G c.1873T>G (p.Tyr625Asp) c.1624T>G (p.Tyr542Asp) | |
3 | g.133777182A>C | CA354611418 | TF | c.2006A>C (p.Tyr669Ser) c.737A>C n.3000A>C c.1874A>C (p.Tyr625Ser) c.1625A>C (p.Tyr542Ser) | |
3 | g.133777182A>G | CA354611416 | TF | c.2006A>G (p.Tyr669Cys) c.737A>G n.3000A>G c.1874A>G (p.Tyr625Cys) c.1625A>G (p.Tyr542Cys) | |
3 | g.133777182A>T | CA354611417 | TF | c.2006A>T (p.Tyr669Phe) c.737A>T n.3000A>T c.1874A>T (p.Tyr625Phe) c.1625A>T (p.Tyr542Phe) | |
3 | g.133777183C>A | CA354611419 | TF | c.2007C>A (p.Tyr669Ter) c.738C>A n.3001C>A c.1875C>A (p.Tyr625Ter) c.1626C>A (p.Tyr542Ter) | |
3 | g.133777183C= | CA1403124976 | TF | c.2007C= (p.Tyr669=) c.738C= n.3001C= c.1875C= (p.Tyr625=) c.1626C= (p.Tyr542=) | |
3 | g.133777183C>G | CA354611420 | TF | c.2007C>G (p.Tyr669Ter) c.738C>G n.3001C>G c.1875C>G (p.Tyr625Ter) c.1626C>G (p.Tyr542Ter) | gnomAD v4 |
3 | g.133777183C>T | CA2625469 | TF | c.2007C>T (p.Tyr669=) c.738C>T n.3001C>T c.1875C>T (p.Tyr625=) c.1626C>T (p.Tyr542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777184T>A | CA354611421 | TF | c.2008T>A (p.Leu670Ile) c.739T>A n.3002T>A c.1876T>A (p.Leu626Ile) c.1627T>A (p.Leu543Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777184T>C | CA435815961 | TF | c.2008T>C (p.Leu670=) c.739T>C n.3002T>C c.1876T>C (p.Leu626=) c.1627T>C (p.Leu543=) | |
3 | g.133777184T>G | CA354611422 | TF | c.2008T>G (p.Leu670Val) c.739T>G n.3002T>G c.1876T>G (p.Leu626Val) c.1627T>G (p.Leu543Val) | |
3 | g.133777184T= | CA1403124981 | TF | c.2008T= (p.Leu670=) c.739T= n.3002T= c.1876T= (p.Leu626=) c.1627T= (p.Leu543=) | |
3 | g.133777185T>A | CA354611423 | TF | c.2009T>A (p.Leu670Ter) c.740T>A n.3003T>A c.1877T>A (p.Leu626Ter) c.1628T>A (p.Leu543Ter) | |
3 | g.133777185T>C | CA354611424 | TF | c.2009T>C (p.Leu670Ser) c.740T>C n.3003T>C c.1877T>C (p.Leu626Ser) c.1628T>C (p.Leu543Ser) | |
3 | g.133777185T>G | CA354611425 | TF | c.2009T>G (p.Leu670Ter) c.740T>G n.3003T>G c.1877T>G (p.Leu626Ter) c.1628T>G (p.Leu543Ter) | |
3 | g.133777186A= | CA1403124989 | TF | c.2010A= (p.Leu670=) c.741A= n.3004A= c.1878A= (p.Leu626=) c.1629A= (p.Leu543=) | |
3 | g.133777186A>C | CA354611426 | TF | c.2010A>C (p.Leu670Phe) c.741A>C n.3004A>C c.1878A>C (p.Leu626Phe) c.1629A>C (p.Leu543Phe) | |
3 | g.133777186A>G | CA83694431 | TF | c.2010A>G (p.Leu670=) c.741A>G n.3004A>G c.1878A>G (p.Leu626=) c.1629A>G (p.Leu543=) | ClinVar dbSNP gnomAD v4 |
3 | g.133777186A>T | CA354611427 | TF | c.2010A>T (p.Leu670Phe) c.741A>T n.3004A>T c.1878A>T (p.Leu626Phe) c.1629A>T (p.Leu543Phe) | gnomAD v4 |
3 | g.133777187G>A | CA354611430 | TF | c.2011G>A (p.Gly671Arg) c.742G>A n.3005G>A c.1879G>A (p.Gly627Arg) c.1630G>A (p.Gly544Arg) | |
3 | g.133777187G>C | CA354611429 | TF | c.2011G>C (p.Gly671Arg) c.742G>C n.3005G>C c.1879G>C (p.Gly627Arg) c.1630G>C (p.Gly544Arg) | |
3 | g.133777187G>T | CA354611428 | TF | c.2011G>T (p.Gly671Ter) c.742G>T n.3005G>T c.1879G>T (p.Gly627Ter) c.1630G>T (p.Gly544Ter) | |
3 | g.133777188G>A | CA122561 | TF | c.2012G>A (p.Gly671Glu) c.743G>A n.3006G>A c.1880G>A (p.Gly627Glu) c.1631G>A (p.Gly544Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777188G>C | CA354611431 | TF | c.2012G>C (p.Gly671Ala) c.743G>C n.3006G>C c.1880G>C (p.Gly627Ala) c.1631G>C (p.Gly544Ala) | |
3 | g.133777188G= | CA1403124997 | TF | c.2012G= (p.Gly671=) c.743G= n.3006G= c.1880G= (p.Gly627=) c.1631G= (p.Gly544=) | |
3 | g.133777188G>T | CA2625470 | TF | c.2012G>T (p.Gly671Val) c.743G>T n.3006G>T c.1880G>T (p.Gly627Val) c.1631G>T (p.Gly544Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133777189A>C | CA435815962 | TF | c.2013A>C (p.Gly671=) c.744A>C n.3007A>C c.1881A>C (p.Gly627=) c.1632A>C (p.Gly544=) | |
3 | g.133777189A>G | CA435815963 | TF | c.2013A>G (p.Gly671=) c.744A>G n.3007A>G c.1881A>G (p.Gly627=) c.1632A>G (p.Gly544=) | |
3 | g.133777189A>T | CA435815964 | TF | c.2013A>T (p.Gly671=) c.744A>T n.3007A>T c.1881A>T (p.Gly627=) c.1632A>T (p.Gly544=) | |
3 | g.133777190G>A | CA354611432 | TF | c.2014G>A (p.Glu672Lys) c.745G>A n.3008G>A c.1882G>A (p.Glu628Lys) c.1633G>A (p.Glu545Lys) | gnomAD v4 |
3 | g.133777190G>C | CA354611433 | TF | c.2014G>C (p.Glu672Gln) c.745G>C n.3008G>C c.1882G>C (p.Glu628Gln) c.1633G>C (p.Glu545Gln) | |
3 | g.133777190G>T | CA354611434 | TF | c.2014G>T (p.Glu672Ter) c.745G>T n.3008G>T c.1882G>T (p.Glu628Ter) c.1633G>T (p.Glu545Ter) | |
3 | g.133777191A>C | CA354611437 | TF | c.2015A>C (p.Glu672Ala) c.746A>C n.3009A>C c.1883A>C (p.Glu628Ala) c.1634A>C (p.Glu545Ala) | |
3 | g.133777191A>G | CA354611435 | TF | c.2015A>G (p.Glu672Gly) c.746A>G n.3009A>G c.1883A>G (p.Glu628Gly) c.1634A>G (p.Glu545Gly) | |
3 | g.133777191A>T | CA354611436 | TF | c.2015A>T (p.Glu672Val) c.746A>T n.3009A>T c.1883A>T (p.Glu628Val) c.1634A>T (p.Glu545Val) | |
3 | g.133777192A>C | CA354611438 | TF | c.2016A>C (p.Glu672Asp) c.747A>C n.3010A>C c.1884A>C (p.Glu628Asp) c.1635A>C (p.Glu545Asp) | |
3 | g.133777192A>G | CA435815965 | TF | c.2016A>G (p.Glu672=) c.747A>G n.3010A>G c.1884A>G (p.Glu628=) c.1635A>G (p.Glu545=) | gnomAD v4 |
3 | g.133777192A>T | CA354611439 | TF | c.2016A>T (p.Glu672Asp) c.747A>T n.3010A>T c.1884A>T (p.Glu628Asp) c.1635A>T (p.Glu545Asp) | |
3 | g.133777193G>A | CA354611440 | TF | c.2017G>A (p.Glu673Lys) c.748G>A n.3011G>A c.1885G>A (p.Glu629Lys) c.1636G>A (p.Glu546Lys) | |
3 | g.133777193G>C | CA354611441 | TF | c.2017G>C (p.Glu673Gln) c.748G>C n.3011G>C c.1885G>C (p.Glu629Gln) c.1636G>C (p.Glu546Gln) | |
3 | g.133777193G>T | CA354611442 | TF | c.2017G>T (p.Glu673Ter) c.748G>T n.3011G>T c.1885G>T (p.Glu629Ter) c.1636G>T (p.Glu546Ter) | |
3 | g.133777194A>C | CA354611443 | TF | c.2018A>C (p.Glu673Ala) c.749A>C n.3012A>C c.1886A>C (p.Glu629Ala) c.1637A>C (p.Glu546Ala) | |
3 | g.133777194A>G | CA354611445 | TF | c.2018A>G (p.Glu673Gly) c.749A>G n.3012A>G c.1886A>G (p.Glu629Gly) c.1637A>G (p.Glu546Gly) | |
3 | g.133777194A>T | CA354611444 | TF | c.2018A>T (p.Glu673Val) c.749A>T n.3012A>T c.1886A>T (p.Glu629Val) c.1637A>T (p.Glu546Val) | |
3 | g.133777195A>C | CA354611446 | TF | c.2019A>C (p.Glu673Asp) c.750A>C n.3013A>C c.1887A>C (p.Glu629Asp) c.1638A>C (p.Glu546Asp) | |
3 | g.133777195A>G | CA435815966 | TF | c.2019A>G (p.Glu673=) c.750A>G n.3013A>G c.1887A>G (p.Glu629=) c.1638A>G (p.Glu546=) | |
3 | g.133777195A>T | CA354611447 | TF | c.2019A>T (p.Glu673Asp) c.750A>T n.3013A>T c.1887A>T (p.Glu629Asp) c.1638A>T (p.Glu546Asp) | |
3 | g.133777197_133777198del | CA2667772270 | TF | c.2021_2022del (p.Tyr674CysfsTer6) c.752_753del n.3015_3016del c.1889_1890del (p.Tyr630CysfsTer6) c.1640_1641del (p.Tyr547CysfsTer6) | gnomAD v4 |
3 | g.133777196T>A | CA354611448 | TF | c.2020T>A (p.Tyr674Asn) c.751T>A n.3014T>A c.1888T>A (p.Tyr630Asn) c.1639T>A (p.Tyr547Asn) | |
3 | g.133777196T>C | CA354611449 | TF | c.2020T>C (p.Tyr674His) c.751T>C n.3014T>C c.1888T>C (p.Tyr630His) c.1639T>C (p.Tyr547His) | |
3 | g.133777196T>G | CA354611450 | TF | c.2020T>G (p.Tyr674Asp) c.751T>G n.3014T>G c.1888T>G (p.Tyr630Asp) c.1639T>G (p.Tyr547Asp) | |
3 | g.133777197A>C | CA354611451 | TF | c.2021A>C (p.Tyr674Ser) c.752A>C n.3015A>C c.1889A>C (p.Tyr630Ser) c.1640A>C (p.Tyr547Ser) | |
3 | g.133777197A>G | CA354611452 | TF | c.2021A>G (p.Tyr674Cys) c.752A>G n.3015A>G c.1889A>G (p.Tyr630Cys) c.1640A>G (p.Tyr547Cys) | |
3 | g.133777197A>T | CA354611453 | TF | c.2021A>T (p.Tyr674Phe) c.752A>T n.3015A>T c.1889A>T (p.Tyr630Phe) c.1640A>T (p.Tyr547Phe) | |
3 | g.133777198T>A | CA354611454 | TF | c.2022T>A (p.Tyr674Ter) c.753T>A n.3016T>A c.1890T>A (p.Tyr630Ter) c.1641T>A (p.Tyr547Ter) | |
3 | g.133777198T>C | CA2625471 | TF | c.2022T>C (p.Tyr674=) c.753T>C n.3016T>C c.1890T>C (p.Tyr630=) c.1641T>C (p.Tyr547=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777198T>G | CA354611455 | TF | c.2022T>G (p.Tyr674Ter) c.753T>G n.3016T>G c.1890T>G (p.Tyr630Ter) c.1641T>G (p.Tyr547Ter) | gnomAD v4 |
3 | g.133777198T= | CA1403125008 | TF | c.2022T= (p.Tyr674=) c.753T= n.3016T= c.1890T= (p.Tyr630=) c.1641T= (p.Tyr547=) | |
3 | g.133777199G>A | CA83694494 | TF | c.2023G>A (p.Val675Ile) c.754G>A n.3017G>A c.1891G>A (p.Val631Ile) c.1642G>A (p.Val548Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777199G>C | CA354611457 | TF | c.2023G>C (p.Val675Leu) c.754G>C n.3017G>C c.1891G>C (p.Val631Leu) c.1642G>C (p.Val548Leu) | |
3 | g.133777199G= | CA1403125013 | TF | c.2023G= (p.Val675=) c.754G= n.3017G= c.1891G= (p.Val631=) c.1642G= (p.Val548=) | |
3 | g.133777199G>T | CA354611456 | TF | c.2023G>T (p.Val675Phe) c.754G>T n.3017G>T c.1891G>T (p.Val631Phe) c.1642G>T (p.Val548Phe) | |
3 | g.133777200T>A | CA354611458 | TF | c.2024T>A (p.Val675Asp) c.755T>A n.3018T>A c.1892T>A (p.Val631Asp) c.1643T>A (p.Val548Asp) | |
3 | g.133777200T>C | CA354611460 | TF | c.2024T>C (p.Val675Ala) c.755T>C n.3018T>C c.1892T>C (p.Val631Ala) c.1643T>C (p.Val548Ala) | |
3 | g.133777200T>G | CA354611459 | TF | c.2024T>G (p.Val675Gly) c.755T>G n.3018T>G c.1892T>G (p.Val631Gly) c.1643T>G (p.Val548Gly) | |
3 | g.133777201C>A | CA435815967 | TF | c.2025C>A (p.Val675=) c.756C>A n.3019C>A c.1893C>A (p.Val631=) c.1644C>A (p.Val548=) | |
3 | g.133777201C>G | CA435815968 | TF | c.2025C>G (p.Val675=) c.756C>G n.3019C>G c.1893C>G (p.Val631=) c.1644C>G (p.Val548=) | gnomAD v4 |
3 | g.133777201C>T | CA435815969 | TF | c.2025C>T (p.Val675=) c.756C>T n.3019C>T c.1893C>T (p.Val631=) c.1644C>T (p.Val548=) | gnomAD v4 |
3 | g.133777202A>C | CA354611461 | TF | c.2026A>C (p.Lys676Gln) c.757A>C n.3020A>C c.1894A>C (p.Lys632Gln) c.1645A>C (p.Lys549Gln) | |
3 | g.133777202A>G | CA354611462 | TF | c.2026A>G (p.Lys676Glu) c.757A>G n.3020A>G c.1894A>G (p.Lys632Glu) c.1645A>G (p.Lys549Glu) | |
3 | g.133777202A>T | CA354611463 | TF | c.2026A>T (p.Lys676Ter) c.757A>T n.3020A>T c.1894A>T (p.Lys632Ter) c.1645A>T (p.Lys549Ter) | |
3 | g.133777203A>C | CA354611464 | TF | c.2027A>C (p.Lys676Thr) c.758A>C n.3021A>C c.1895A>C (p.Lys632Thr) c.1646A>C (p.Lys549Thr) | |
3 | g.133777203A>G | CA354611465 | TF | c.2027A>G (p.Lys676Arg) c.758A>G n.3021A>G c.1895A>G (p.Lys632Arg) c.1646A>G (p.Lys549Arg) | |
3 | g.133777203A>T | CA354611466 | TF | c.2027A>T (p.Lys676Met) c.758A>T n.3021A>T c.1895A>T (p.Lys632Met) c.1646A>T (p.Lys549Met) | |
3 | g.133777204G>A | CA435815970 | TF | c.2028G>A (p.Lys676=) c.759G>A n.3022G>A c.1896G>A (p.Lys632=) c.1647G>A (p.Lys549=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777204G>C | CA354611467 | TF | c.2028G>C (p.Lys676Asn) c.759G>C n.3022G>C c.1896G>C (p.Lys632Asn) c.1647G>C (p.Lys549Asn) | |
3 | g.133777204G= | CA1403125018 | TF | c.2028G= (p.Lys676=) c.759G= n.3022G= c.1896G= (p.Lys632=) c.1647G= (p.Lys549=) | |
3 | g.133777204G>T | CA354611468 | TF | c.2028G>T (p.Lys676Asn) c.759G>T n.3022G>T c.1896G>T (p.Lys632Asn) c.1647G>T (p.Lys549Asn) | |
3 | g.133777205G>A | CA83694505 | TF | c.2029G>A (p.Ala677Thr) c.760G>A n.3023G>A c.1897G>A (p.Ala633Thr) c.1648G>A (p.Ala550Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.133777205G>C | CA2625472 | TF | c.2029G>C (p.Ala677Pro) c.760G>C n.3023G>C c.1897G>C (p.Ala633Pro) c.1648G>C (p.Ala550Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.133777205G= | CA1403125022 | TF | c.2029G= (p.Ala677=) c.760G= n.3023G= c.1897G= (p.Ala633=) c.1648G= (p.Ala550=) | |
3 | g.133777205G>T | CA354611469 | TF | c.2029G>T (p.Ala677Ser) c.760G>T n.3023G>T c.1897G>T (p.Ala633Ser) c.1648G>T (p.Ala550Ser) | |
3 | g.133777206C>A | CA354611472 | TF | c.2030C>A (p.Ala677Asp) c.761C>A n.3024C>A c.1898C>A (p.Ala633Asp) c.1649C>A (p.Ala550Asp) | |
3 | g.133777206C>G | CA354611471 | TF | c.2030C>G (p.Ala677Gly) c.761C>G n.3024C>G c.1898C>G (p.Ala633Gly) c.1649C>G (p.Ala550Gly) | |
3 | g.133777206C>T | CA354611470 | TF | c.2030C>T (p.Ala677Val) c.761C>T n.3024C>T c.1898C>T (p.Ala633Val) c.1649C>T (p.Ala550Val) | |
3 | g.133777207T>A | CA435815971 | TF | c.2031T>A (p.Ala677=) c.762T>A n.3025T>A c.1899T>A (p.Ala633=) c.1650T>A (p.Ala550=) | |
3 | g.133777207T>C | CA435815972 | TF | c.2031T>C (p.Ala677=) c.762T>C n.3025T>C c.1899T>C (p.Ala633=) c.1650T>C (p.Ala550=) | gnomAD v4 |
3 | g.133777207T>G | CA435815973 | TF | c.2031T>G (p.Ala677=) c.762T>G n.3025T>G c.1899T>G (p.Ala633=) c.1650T>G (p.Ala550=) | |
3 | g.133777208G>A | CA354611473 | TF | c.2032G>A (p.Val678Ile) c.763G>A n.3026G>A c.1900G>A (p.Val634Ile) c.1651G>A (p.Val551Ile) | |
3 | g.133777208G>C | CA354611474 | TF | c.2032G>C (p.Val678Leu) c.763G>C n.3026G>C c.1900G>C (p.Val634Leu) c.1651G>C (p.Val551Leu) | |
3 | g.133777208G>T | CA354611475 | TF | c.2032G>T (p.Val678Phe) c.763G>T n.3026G>T c.1900G>T (p.Val634Phe) c.1651G>T (p.Val551Phe) | |
3 | g.133777209T>A | CA354611476 | TF | c.2033T>A (p.Val678Asp) c.764T>A n.3027T>A c.1901T>A (p.Val634Asp) c.1652T>A (p.Val551Asp) | |
3 | g.133777209T>C | CA354611477 | TF | c.2033T>C (p.Val678Ala) c.764T>C n.3027T>C c.1901T>C (p.Val634Ala) c.1652T>C (p.Val551Ala) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133777209T>G | CA354611478 | TF | c.2033T>G (p.Val678Gly) c.764T>G n.3027T>G c.1901T>G (p.Val634Gly) c.1652T>G (p.Val551Gly) | |
3 | g.133777209T= | CA1403125025 | TF | c.2033T= (p.Val678=) c.764T= n.3027T= c.1901T= (p.Val634=) c.1652T= (p.Val551=) | |
3 | g.133777210T>A | CA435815974 | TF | c.2034T>A (p.Val678=) c.765T>A n.3028T>A c.1902T>A (p.Val634=) c.1653T>A (p.Val551=) | |
3 | g.133777210T>C | CA435815976 | TF | c.2034T>C (p.Val678=) c.765T>C n.3028T>C c.1902T>C (p.Val634=) c.1653T>C (p.Val551=) | |
3 | g.133777210T>G | CA435815975 | TF | c.2034T>G (p.Val678=) c.765T>G n.3028T>G c.1902T>G (p.Val634=) c.1653T>G (p.Val551=) | |
3 | g.133777210_133777211del | CA2667772271 | TF | c.2034_2035del (p.Gly679Ter) c.765_766del n.3028_3029del c.1902_1903del (p.Gly635Ter) c.1653_1654del (p.Gly552Ter) | gnomAD v4 |
3 | g.133777211G>A | CA354611479 | TF | c.2035G>A (p.Gly679Ser) c.766G>A n.3029G>A c.1903G>A (p.Gly635Ser) c.1654G>A (p.Gly552Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.133777211G>C | CA354611480 | TF | c.2035G>C (p.Gly679Arg) c.766G>C n.3029G>C c.1903G>C (p.Gly635Arg) c.1654G>C (p.Gly552Arg) | |
3 | g.133777211G= | CA1403125030 | TF | c.2035G= (p.Gly679=) c.766G= n.3029G= c.1903G= (p.Gly635=) c.1654G= (p.Gly552=) | |
3 | g.133777211G>T | CA354611481 | TF | c.2035G>T (p.Gly679Cys) c.766G>T n.3029G>T c.1903G>T (p.Gly635Cys) c.1654G>T (p.Gly552Cys) | |
3 | g.133777212G>A | CA354611482 | TF | c.2036G>A (p.Gly679Asp) c.767G>A n.3030G>A c.1904G>A (p.Gly635Asp) c.1655G>A (p.Gly552Asp) | |
3 | g.133777212G>C | CA354611483 | TF | c.2036G>C (p.Gly679Ala) c.767G>C n.3030G>C c.1904G>C (p.Gly635Ala) c.1655G>C (p.Gly552Ala) | |
3 | g.133777212G>T | CA354611484 | TF | c.2036G>T (p.Gly679Val) c.767G>T n.3030G>T c.1904G>T (p.Gly635Val) c.1655G>T (p.Gly552Val) | |
3 | g.133777213T>A | CA435815977 | TF | c.2037T>A (p.Gly679=) c.768T>A n.3031T>A c.1905T>A (p.Gly635=) c.1656T>A (p.Gly552=) | |
3 | g.133777213T>C | CA435815978 | TF | c.2037T>C (p.Gly679=) c.768T>C n.3031T>C c.1905T>C (p.Gly635=) c.1656T>C (p.Gly552=) | |
3 | g.133777213T>G | CA435815979 | TF | c.2037T>G (p.Gly679=) c.768T>G n.3031T>G c.1905T>G (p.Gly635=) c.1656T>G (p.Gly552=) | |
3 | g.133777214A>C | CA354611487 | TF | c.2038A>C (p.Asn680His) c.769A>C n.3032A>C c.1906A>C (p.Asn636His) c.1657A>C (p.Asn553His) | |
3 | g.133777214A>G | CA354611486 | TF | c.2038A>G (p.Asn680Asp) c.769A>G n.3032A>G c.1906A>G (p.Asn636Asp) c.1657A>G (p.Asn553Asp) | |
3 | g.133777214A>T | CA354611485 | TF | c.2038A>T (p.Asn680Tyr) c.769A>T n.3032A>T c.1906A>T (p.Asn636Tyr) c.1657A>T (p.Asn553Tyr) | |
3 | g.133777215A>C | CA354611488 | TF | c.2039A>C (p.Asn680Thr) c.770A>C n.3033A>C c.1907A>C (p.Asn636Thr) c.1658A>C (p.Asn553Thr) | |
3 | g.133777215A>G | CA354611489 | TF | c.2039A>G (p.Asn680Ser) c.770A>G n.3033A>G c.1907A>G (p.Asn636Ser) c.1658A>G (p.Asn553Ser) | |
3 | g.133777215A>T | CA354611490 | TF | c.2039A>T (p.Asn680Ile) c.770A>T n.3033A>T c.1907A>T (p.Asn636Ile) c.1658A>T (p.Asn553Ile) | |
3 | g.133777216C>A | CA354611491 | TF | c.2040C>A (p.Asn680Lys) c.771C>A n.3034C>A c.1908C>A (p.Asn636Lys) c.1659C>A (p.Asn553Lys) | |
3 | g.133777216C>G | CA354611492 | TF | c.2040C>G (p.Asn680Lys) c.771C>G n.3034C>G c.1908C>G (p.Asn636Lys) c.1659C>G (p.Asn553Lys) | |
3 | g.133777216C>T | CA435815980 | TF | c.2040C>T (p.Asn680=) c.771C>T n.3034C>T c.1908C>T (p.Asn636=) c.1659C>T (p.Asn553=) | gnomAD v4 |