Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110812467G>A | CA213223759 | RBM20 | c.2070G>A (p.Pro690=) c.1686G>A (p.Pro562=) c.1905G>A (p.Pro635=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812467G>C | CA471506867 | RBM20 | c.2070G>C (p.Pro690=) c.1686G>C (p.Pro562=) c.1905G>C (p.Pro635=) | |
10 | g.110812467G>T | CA471506868 | RBM20 | c.2070G>T (p.Pro690=) c.1686G>T (p.Pro562=) c.1905G>T (p.Pro635=) | gnomAD v4 |
10 | g.110812468G>A | CA378371302 | RBM20 | c.2071G>A (p.Ala691Thr) c.1687G>A (p.Ala563Thr) c.1906G>A (p.Ala636Thr) | ClinVar gnomAD v4 |
10 | g.110812468G>C | CA378371305 | RBM20 | c.2071G>C (p.Ala691Pro) c.1687G>C (p.Ala563Pro) c.1906G>C (p.Ala636Pro) | |
10 | g.110812468G>T | CA378371310 | RBM20 | c.2071G>T (p.Ala691Ser) c.1687G>T (p.Ala563Ser) c.1906G>T (p.Ala636Ser) | ClinVar dbSNP |
10 | g.110812469C>A | CA378371318 | RBM20 | c.2072C>A (p.Ala691Asp) c.1688C>A (p.Ala563Asp) c.1907C>A (p.Ala636Asp) | |
10 | g.110812469C>G | CA378371325 | RBM20 | c.2072C>G (p.Ala691Gly) c.1688C>G (p.Ala563Gly) c.1907C>G (p.Ala636Gly) | |
10 | g.110812469C>T | CA378371329 | RBM20 | c.2072C>T (p.Ala691Val) c.1688C>T (p.Ala563Val) c.1907C>T (p.Ala636Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812470T>A | CA471506876 | RBM20 | c.2073T>A (p.Ala691=) c.1689T>A (p.Ala563=) c.1908T>A (p.Ala636=) | |
10 | g.110812470T>C | CA471506875 | RBM20 | c.2073T>C (p.Ala691=) c.1689T>C (p.Ala563=) c.1908T>C (p.Ala636=) | |
10 | g.110812470T>G | CA471506873 | RBM20 | c.2073T>G (p.Ala691=) c.1689T>G (p.Ala563=) c.1908T>G (p.Ala636=) | |
10 | g.110812471C>A | CA378371338 | RBM20 | c.2074C>A (p.Pro692Thr) c.1690C>A (p.Pro564Thr) c.1909C>A (p.Pro637Thr) | |
10 | g.110812471C>G | CA378371349 | RBM20 | c.2074C>G (p.Pro692Ala) c.1690C>G (p.Pro564Ala) c.1909C>G (p.Pro637Ala) | |
10 | g.110812471C>T | CA378371355 | RBM20 | c.2074C>T (p.Pro692Ser) c.1690C>T (p.Pro564Ser) c.1909C>T (p.Pro637Ser) | |
10 | g.110812471_110812472delinsTT | CA645568267 | RBM20 | c.2074_2075delinsTT (p.Pro692Phe) c.1690_1691delinsTT (p.Pro564Phe) c.1909_1910delinsTT (p.Pro637Phe) | COSMIC |
10 | g.110812472C>A | CA378371380 | RBM20 | c.2075C>A (p.Pro692His) c.1691C>A (p.Pro564His) c.1910C>A (p.Pro637His) | |
10 | g.110812472C>G | CA378371363 | RBM20 | c.2075C>G (p.Pro692Arg) c.1691C>G (p.Pro564Arg) c.1910C>G (p.Pro637Arg) | |
10 | g.110812472C>T | CA378371365 | RBM20 | c.2075C>T (p.Pro692Leu) c.1691C>T (p.Pro564Leu) c.1910C>T (p.Pro637Leu) | ClinVar |
10 | g.110812473C>A | CA471506880 | RBM20 | c.2076C>A (p.Pro692=) c.1692C>A (p.Pro564=) c.1911C>A (p.Pro637=) | |
10 | g.110812473C>G | CA471506883 | RBM20 | c.2076C>G (p.Pro692=) c.1692C>G (p.Pro564=) c.1911C>G (p.Pro637=) | |
10 | g.110812473C>T | CA213223762 | RBM20 | c.2076C>T (p.Pro692=) c.1692C>T (p.Pro564=) c.1911C>T (p.Pro637=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812474T>A | CA378371382 | RBM20 | c.2077T>A (p.Trp693Arg) c.1693T>A (p.Trp565Arg) c.1912T>A (p.Trp638Arg) | |
10 | g.110812474T>C | CA378371383 | RBM20 | c.2077T>C (p.Trp693Arg) c.1693T>C (p.Trp565Arg) c.1912T>C (p.Trp638Arg) | |
10 | g.110812474T>G | CA378371387 | RBM20 | c.2077T>G (p.Trp693Gly) c.1693T>G (p.Trp565Gly) c.1912T>G (p.Trp638Gly) | |
10 | g.110812475G>A | CA378371390 | RBM20 | c.2078G>A (p.Trp693Ter) c.1694G>A (p.Trp565Ter) c.1913G>A (p.Trp638Ter) | |
10 | g.110812475G>C | CA378371393 | RBM20 | c.2078G>C (p.Trp693Ser) c.1694G>C (p.Trp565Ser) c.1913G>C (p.Trp638Ser) | |
10 | g.110812475G>T | CA378371404 | RBM20 | c.2078G>T (p.Trp693Leu) c.1694G>T (p.Trp565Leu) c.1913G>T (p.Trp638Leu) | |
10 | g.110812476G>A | CA378371412 | RBM20 | c.2079G>A (p.Trp693Ter) c.1695G>A (p.Trp565Ter) c.1914G>A (p.Trp638Ter) | |
10 | g.110812476G>C | CA378371418 | RBM20 | c.2079G>C (p.Trp693Cys) c.1695G>C (p.Trp565Cys) c.1914G>C (p.Trp638Cys) | |
10 | g.110812476G>T | CA378371426 | RBM20 | c.2079G>T (p.Trp693Cys) c.1695G>T (p.Trp565Cys) c.1914G>T (p.Trp638Cys) | gnomAD v4 |
10 | g.110812477A>C | CA471506891 | RBM20 | c.2080A>C (p.Arg694=) c.1696A>C (p.Arg566=) c.1915A>C (p.Arg639=) | |
10 | g.110812477A>G | CA378371431 | RBM20 | c.2080A>G (p.Arg694Gly) c.1696A>G (p.Arg566Gly) c.1915A>G (p.Arg639Gly) | |
10 | g.110812477A>T | CA378371436 | RBM20 | c.2080A>T (p.Arg694Trp) c.1696A>T (p.Arg566Trp) c.1915A>T (p.Arg639Trp) | |
10 | g.110812478G>A | CA378371449 | RBM20 | c.2081G>A (p.Arg694Lys) c.1697G>A (p.Arg566Lys) c.1916G>A (p.Arg639Lys) | |
10 | g.110812478G>C | CA378371448 | RBM20 | c.2081G>C (p.Arg694Thr) c.1697G>C (p.Arg566Thr) c.1916G>C (p.Arg639Thr) | |
10 | g.110812478G>T | CA378371439 | RBM20 | c.2081G>T (p.Arg694Met) c.1697G>T (p.Arg566Met) c.1916G>T (p.Arg639Met) | |
10 | g.110812479G>A | CA471506895 | RBM20 | c.2082G>A (p.Arg694=) c.1698G>A (p.Arg566=) c.1917G>A (p.Arg639=) | |
10 | g.110812479G>C | CA378371452 | RBM20 | c.2082G>C (p.Arg694Ser) c.1698G>C (p.Arg566Ser) c.1917G>C (p.Arg639Ser) | |
10 | g.110812479G>T | CA378371457 | RBM20 | c.2082G>T (p.Arg694Ser) c.1698G>T (p.Arg566Ser) c.1917G>T (p.Arg639Ser) | |
10 | g.110812480G>A | CA378371461 | RBM20 | c.2083G>A (p.Asp695Asn) c.1699G>A (p.Asp567Asn) c.1918G>A (p.Asp640Asn) | gnomAD v4 COSMIC |
10 | g.110812480G>C | CA378371469 | RBM20 | c.2083G>C (p.Asp695His) c.1699G>C (p.Asp567His) c.1918G>C (p.Asp640His) | |
10 | g.110812480G>T | CA378371472 | RBM20 | c.2083G>T (p.Asp695Tyr) c.1699G>T (p.Asp567Tyr) c.1918G>T (p.Asp640Tyr) | |
10 | g.110812481A>C | CA378371475 | RBM20 | c.2084A>C (p.Asp695Ala) c.1700A>C (p.Asp567Ala) c.1919A>C (p.Asp640Ala) | |
10 | g.110812481A>G | CA213223767 | RBM20 | c.2084A>G (p.Asp695Gly) c.1700A>G (p.Asp567Gly) c.1919A>G (p.Asp640Gly) | ClinVar dbSNP gnomAD v4 |
10 | g.110812481A>T | CA378371493 | RBM20 | c.2084A>T (p.Asp695Val) c.1700A>T (p.Asp567Val) c.1919A>T (p.Asp640Val) | |
10 | g.110812482C>A | CA378371497 | RBM20 | c.2085C>A (p.Asp695Glu) c.1701C>A (p.Asp567Glu) c.1920C>A (p.Asp640Glu) | |
10 | g.110812482C>G | CA378371500 | RBM20 | c.2085C>G (p.Asp695Glu) c.1701C>G (p.Asp567Glu) c.1920C>G (p.Asp640Glu) | dbSNP |
10 | g.110812482C>T | CA471506905 | RBM20 | c.2085C>T (p.Asp695=) c.1701C>T (p.Asp567=) c.1920C>T (p.Asp640=) | |
10 | g.110812483A>C | CA378371504 | RBM20 | c.2086A>C (p.Asn696His) c.1702A>C (p.Asn568His) c.1921A>C (p.Asn641His) | |
10 | g.110812483A>G | CA378371510 | RBM20 | c.2086A>G (p.Asn696Asp) c.1702A>G (p.Asn568Asp) c.1921A>G (p.Asn641Asp) | ClinVar dbSNP |
10 | g.110812483A>T | CA378371514 | RBM20 | c.2086A>T (p.Asn696Tyr) c.1702A>T (p.Asn568Tyr) c.1921A>T (p.Asn641Tyr) | |
10 | g.110812484A>C | CA378371530 | RBM20 | c.2087A>C (p.Asn696Thr) c.1703A>C (p.Asn568Thr) c.1922A>C (p.Asn641Thr) | dbSNP |
10 | g.110812484A>G | CA378371521 | RBM20 | c.2087A>G (p.Asn696Ser) c.1703A>G (p.Asn568Ser) c.1922A>G (p.Asn641Ser) | ClinVar dbSNP |
10 | g.110812484A>T | CA378371524 | RBM20 | c.2087A>T (p.Asn696Ile) c.1703A>T (p.Asn568Ile) c.1922A>T (p.Asn641Ile) | |
10 | g.110812485del | CA932526619 | RBM20 | c.2088del (p.Asn696LysfsTer?) c.1704del (p.Asn568LysfsTer?) c.1923del (p.Asn641LysfsTer?) | dbSNP |
10 | g.110812485C>A | CA378371533 | RBM20 | c.2088C>A (p.Asn696Lys) c.1704C>A (p.Asn568Lys) c.1923C>A (p.Asn641Lys) | |
10 | g.110812485C>G | CA378371542 | RBM20 | c.2088C>G (p.Asn696Lys) c.1704C>G (p.Asn568Lys) c.1923C>G (p.Asn641Lys) | |
10 | g.110812485C>T | CA471506917 | RBM20 | c.2088C>T (p.Asn696=) c.1704C>T (p.Asn568=) c.1923C>T (p.Asn641=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812486G>A | CA346597 | RBM20 | c.2089G>A (p.Gly697Arg) c.1705G>A (p.Gly569Arg) c.1924G>A (p.Gly642Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812486G>C | CA378371548 | RBM20 | c.2089G>C (p.Gly697Arg) c.1705G>C (p.Gly569Arg) c.1924G>C (p.Gly642Arg) | |
10 | g.110812486G>T | CA378371550 | RBM20 | c.2089G>T (p.Gly697Ter) c.1705G>T (p.Gly569Ter) c.1924G>T (p.Gly642Ter) | gnomAD v4 |
10 | g.110812487G>A | CA378371553 | RBM20 | c.2090G>A (p.Gly697Glu) c.1706G>A (p.Gly569Glu) c.1925G>A (p.Gly642Glu) | |
10 | g.110812487G>C | CA378371558 | RBM20 | c.2090G>C (p.Gly697Ala) c.1706G>C (p.Gly569Ala) c.1925G>C (p.Gly642Ala) | |
10 | g.110812487G>T | CA378371563 | RBM20 | c.2090G>T (p.Gly697Val) c.1706G>T (p.Gly569Val) c.1925G>T (p.Gly642Val) | |
10 | g.110812488A>C | CA471506925 | RBM20 | c.2091A>C (p.Gly697=) c.1707A>C (p.Gly569=) c.1926A>C (p.Gly642=) | |
10 | g.110812488A>G | CA471506928 | RBM20 | c.2091A>G (p.Gly697=) c.1707A>G (p.Gly569=) c.1926A>G (p.Gly642=) | |
10 | g.110812488A>T | CA471506929 | RBM20 | c.2091A>T (p.Gly697=) c.1707A>T (p.Gly569=) c.1926A>T (p.Gly642=) | |
10 | g.110812489G>A | CA378371568 | RBM20 | c.2092G>A (p.Asp698Asn) c.1708G>A (p.Asp570Asn) c.1927G>A (p.Asp643Asn) | COSMIC |
10 | g.110812489G>C | CA378371570 | RBM20 | c.2092G>C (p.Asp698His) c.1708G>C (p.Asp570His) c.1927G>C (p.Asp643His) | |
10 | g.110812489G>T | CA378371573 | RBM20 | c.2092G>T (p.Asp698Tyr) c.1708G>T (p.Asp570Tyr) c.1927G>T (p.Asp643Tyr) | |
10 | g.110812490A>C | CA378371576 | RBM20 | c.2093A>C (p.Asp698Ala) c.1709A>C (p.Asp570Ala) c.1928A>C (p.Asp643Ala) | |
10 | g.110812490A>G | CA378371575 | RBM20 | c.2093A>G (p.Asp698Gly) c.1709A>G (p.Asp570Gly) c.1928A>G (p.Asp643Gly) | |
10 | g.110812490A>T | CA378371574 | RBM20 | c.2093A>T (p.Asp698Val) c.1709A>T (p.Asp570Val) c.1928A>T (p.Asp643Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812491T>A | CA378371580 | RBM20 | c.2094T>A (p.Asp698Glu) c.1710T>A (p.Asp570Glu) c.1929T>A (p.Asp643Glu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812491T>C | CA471506935 | RBM20 | c.2094T>C (p.Asp698=) c.1710T>C (p.Asp570=) c.1929T>C (p.Asp643=) | |
10 | g.110812491T>G | CA378371584 | RBM20 | c.2094T>G (p.Asp698Glu) c.1710T>G (p.Asp570Glu) c.1929T>G (p.Asp643Glu) | |
10 | g.110812492G>A | CA213223780 | RBM20 | c.2095G>A (p.Asp699Asn) c.1711G>A (p.Asp571Asn) c.1930G>A (p.Asp644Asn) | dbSNP |
10 | g.110812492G>C | CA378371600 | RBM20 | c.2095G>C (p.Asp699His) c.1711G>C (p.Asp571His) c.1930G>C (p.Asp644His) | |
10 | g.110812492G>T | CA378371597 | RBM20 | c.2095G>T (p.Asp699Tyr) c.1711G>T (p.Asp571Tyr) c.1930G>T (p.Asp644Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812493A>C | CA378371610 | RBM20 | c.2096A>C (p.Asp699Ala) c.1712A>C (p.Asp571Ala) c.1931A>C (p.Asp644Ala) | |
10 | g.110812493A>G | CA378371614 | RBM20 | c.2096A>G (p.Asp699Gly) c.1712A>G (p.Asp571Gly) c.1931A>G (p.Asp644Gly) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812493A>T | CA378371613 | RBM20 | c.2096A>T (p.Asp699Val) c.1712A>T (p.Asp571Val) c.1931A>T (p.Asp644Val) | |
10 | g.110812494C>A | CA378371618 | RBM20 | c.2097C>A (p.Asp699Glu) c.1713C>A (p.Asp571Glu) c.1932C>A (p.Asp644Glu) | |
10 | g.110812494C>G | CA378371647 | RBM20 | c.2097C>G (p.Asp699Glu) c.1713C>G (p.Asp571Glu) c.1932C>G (p.Asp644Glu) | |
10 | g.110812494C>T | CA5688667 | RBM20 | c.2097C>T (p.Asp699=) c.1713C>T (p.Asp571=) c.1932C>T (p.Asp644=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812495A>C | CA378371652 | RBM20 | c.2098A>C (p.Lys700Gln) c.1714A>C (p.Lys572Gln) c.1933A>C (p.Lys645Gln) | |
10 | g.110812495A>G | CA378371660 | RBM20 | c.2098A>G (p.Lys700Glu) c.1714A>G (p.Lys572Glu) c.1933A>G (p.Lys645Glu) | |
10 | g.110812495A>T | CA378371657 | RBM20 | c.2098A>T (p.Lys700Ter) c.1714A>T (p.Lys572Ter) c.1933A>T (p.Lys645Ter) | |
10 | g.110812495_110812496del | CA2610892816 | RBM20 | c.2098_2099del (p.Lys700GlufsTer10) c.1714_1715del (p.Lys572GlufsTer10) c.1933_1934del (p.Lys645GlufsTer10) | gnomAD v4 |
10 | g.110812496A>C | CA378371677 | RBM20 | c.2099A>C (p.Lys700Thr) c.1715A>C (p.Lys572Thr) c.1934A>C (p.Lys645Thr) | |
10 | g.110812496A>G | CA378371693 | RBM20 | c.2099A>G (p.Lys700Arg) c.1715A>G (p.Lys572Arg) c.1934A>G (p.Lys645Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812496A>T | CA378371685 | RBM20 | c.2099A>T (p.Lys700Met) c.1715A>T (p.Lys572Met) c.1934A>T (p.Lys645Met) | |
10 | g.110812497G>A | CA471506949 | RBM20 | c.2100G>A (p.Lys700=) c.1716G>A (p.Lys572=) c.1935G>A (p.Lys645=) | ClinVar |
10 | g.110812497G>C | CA213223783 | RBM20 | c.2100G>C (p.Lys700Asn) c.1716G>C (p.Lys572Asn) c.1935G>C (p.Lys645Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812497G>T | CA378371698 | RBM20 | c.2100G>T (p.Lys700Asn) c.1716G>T (p.Lys572Asn) c.1935G>T (p.Lys645Asn) | |
10 | g.110812498A>C | CA471506953 | RBM20 | c.2101A>C (p.Arg701=) c.1717A>C (p.Arg573=) c.1936A>C (p.Arg646=) | |
10 | g.110812498A>G | CA378371704 | RBM20 | c.2101A>G (p.Arg701Gly) c.1717A>G (p.Arg573Gly) c.1936A>G (p.Arg646Gly) | |
10 | g.110812498A>T | CA378371708 | RBM20 | c.2101A>T (p.Arg701Trp) c.1717A>T (p.Arg573Trp) c.1936A>T (p.Arg646Trp) | |
10 | g.110812499G>A | CA378371720 | RBM20 | c.2102G>A (p.Arg701Lys) c.1718G>A (p.Arg573Lys) c.1937G>A (p.Arg646Lys) | ClinVar gnomAD v4 |
10 | g.110812499G>C | CA378371733 | RBM20 | c.2102G>C (p.Arg701Thr) c.1718G>C (p.Arg573Thr) c.1937G>C (p.Arg646Thr) | |
10 | g.110812499G>T | CA378371741 | RBM20 | c.2102G>T (p.Arg701Met) c.1718G>T (p.Arg573Met) c.1937G>T (p.Arg646Met) | |
10 | g.110812500G>A | CA471506962 | RBM20 | c.2103G>A (p.Arg701=) c.1719G>A (p.Arg573=) c.1938G>A (p.Arg646=) | gnomAD v4 |
10 | g.110812500G>C | CA378371754 | RBM20 | c.2103G>C (p.Arg701Ser) c.1719G>C (p.Arg573Ser) c.1938G>C (p.Arg646Ser) | |
10 | g.110812500G>T | CA378371757 | RBM20 | c.2103G>T (p.Arg701Ser) c.1719G>T (p.Arg573Ser) c.1938G>T (p.Arg646Ser) | |
10 | g.110812501G>A | CA378371762 | RBM20 | c.2104G>A (p.Asp702Asn) c.1720G>A (p.Asp574Asn) c.1939G>A (p.Asp647Asn) | |
10 | g.110812501G>C | CA378371770 | RBM20 | c.2104G>C (p.Asp702His) c.1720G>C (p.Asp574His) c.1939G>C (p.Asp647His) | |
10 | g.110812501G>T | CA378371773 | RBM20 | c.2104G>T (p.Asp702Tyr) c.1720G>T (p.Asp574Tyr) c.1939G>T (p.Asp647Tyr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812502A>C | CA378371777 | RBM20 | c.2105A>C (p.Asp702Ala) c.1721A>C (p.Asp574Ala) c.1940A>C (p.Asp647Ala) | |
10 | g.110812502A>G | CA378371784 | RBM20 | c.2105A>G (p.Asp702Gly) c.1721A>G (p.Asp574Gly) c.1940A>G (p.Asp647Gly) | |
10 | g.110812502A>T | CA378371780 | RBM20 | c.2105A>T (p.Asp702Val) c.1721A>T (p.Asp574Val) c.1940A>T (p.Asp647Val) | |
10 | g.110812503C>A | CA378371786 | RBM20 | c.2106C>A (p.Asp702Glu) c.1722C>A (p.Asp574Glu) c.1941C>A (p.Asp647Glu) | |
10 | g.110812503C>G | CA378371787 | RBM20 | c.2106C>G (p.Asp702Glu) c.1722C>G (p.Asp574Glu) c.1941C>G (p.Asp647Glu) | ClinVar |
10 | g.110812503C>T | CA471506968 | RBM20 | c.2106C>T (p.Asp702=) c.1722C>T (p.Asp574=) c.1941C>T (p.Asp647=) | |
10 | g.110812504A>C | CA471506969 | RBM20 | c.2107A>C (p.Arg703=) c.1723A>C (p.Arg575=) c.1942A>C (p.Arg648=) | |
10 | g.110812504A>G | CA213223787 | RBM20 | c.2107A>G (p.Arg703Gly) c.1723A>G (p.Arg575Gly) c.1942A>G (p.Arg648Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812504A>T | CA378371795 | RBM20 | c.2107A>T (p.Arg703Trp) c.1723A>T (p.Arg575Trp) c.1942A>T (p.Arg648Trp) | |
10 | g.110812505G>A | CA133301 | RBM20 | c.2108G>A (p.Arg703Lys) c.1724G>A (p.Arg575Lys) c.1943G>A (p.Arg648Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812505G>C | CA378371803 | RBM20 | c.2108G>C (p.Arg703Thr) c.1724G>C (p.Arg575Thr) c.1943G>C (p.Arg648Thr) | |
10 | g.110812505G>T | CA378371810 | RBM20 | c.2108G>T (p.Arg703Met) c.1724G>T (p.Arg575Met) c.1943G>T (p.Arg648Met) | |
10 | g.110812506G>A | CA471506977 | RBM20 | c.2109G>A (p.Arg703=) c.1725G>A (p.Arg575=) c.1944G>A (p.Arg648=) | |
10 | g.110812506G>C | CA213223788 | RBM20 | c.2109G>C (p.Arg703Ser) c.1725G>C (p.Arg575Ser) c.1944G>C (p.Arg648Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812506G>T | CA378371819 | RBM20 | c.2109G>T (p.Arg703Ser) c.1725G>T (p.Arg575Ser) c.1944G>T (p.Arg648Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812507A>C | CA378371832 | RBM20 | c.2110A>C (p.Met704Leu) c.1726A>C (p.Met576Leu) c.1945A>C (p.Met649Leu) | gnomAD v4 |
10 | g.110812507A>G | CA378371827 | RBM20 | c.2110A>G (p.Met704Val) c.1726A>G (p.Met576Val) c.1945A>G (p.Met649Val) | dbSNP |
10 | g.110812507A>T | CA378371822 | RBM20 | c.2110A>T (p.Met704Leu) c.1726A>T (p.Met576Leu) c.1945A>T (p.Met649Leu) | gnomAD v4 |
10 | g.110812508T>A | CA378371835 | RBM20 | c.2111T>A (p.Met704Lys) c.1727T>A (p.Met576Lys) c.1946T>A (p.Met649Lys) | gnomAD v4 |
10 | g.110812508T>C | CA378371837 | RBM20 | c.2111T>C (p.Met704Thr) c.1727T>C (p.Met576Thr) c.1946T>C (p.Met649Thr) | dbSNP |
10 | g.110812508T>G | CA378371838 | RBM20 | c.2111T>G (p.Met704Arg) c.1727T>G (p.Met576Arg) c.1946T>G (p.Met649Arg) | |
10 | g.110812509G>A | CA378371842 | RBM20 | c.2112G>A (p.Met704Ile) c.1728G>A (p.Met576Ile) c.1947G>A (p.Met649Ile) | COSMIC |
10 | g.110812509G>C | CA378371853 | RBM20 | c.2112G>C (p.Met704Ile) c.1728G>C (p.Met576Ile) c.1947G>C (p.Met649Ile) | |
10 | g.110812509G>T | CA378371861 | RBM20 | c.2112G>T (p.Met704Ile) c.1728G>T (p.Met576Ile) c.1947G>T (p.Met649Ile) | |
10 | g.110812510G>A | CA213223789 | RBM20 | c.2113G>A (p.Asp705Asn) c.1729G>A (p.Asp577Asn) c.1948G>A (p.Asp650Asn) | ClinVar dbSNP gnomAD v4 |
10 | g.110812510G>C | CA378371874 | RBM20 | c.2113G>C (p.Asp705His) c.1729G>C (p.Asp577His) c.1948G>C (p.Asp650His) | |
10 | g.110812510G>T | CA378371879 | RBM20 | c.2113G>T (p.Asp705Tyr) c.1729G>T (p.Asp577Tyr) c.1948G>T (p.Asp650Tyr) | |
10 | g.110812511A>C | CA378371881 | RBM20 | c.2114A>C (p.Asp705Ala) c.1730A>C (p.Asp577Ala) c.1949A>C (p.Asp650Ala) | |
10 | g.110812511A>G | CA378371883 | RBM20 | c.2114A>G (p.Asp705Gly) c.1730A>G (p.Asp577Gly) c.1949A>G (p.Asp650Gly) | |
10 | g.110812511A>T | CA378371885 | RBM20 | c.2114A>T (p.Asp705Val) c.1730A>T (p.Asp577Val) c.1949A>T (p.Asp650Val) | dbSNP |
10 | g.110812512C>A | CA378371891 | RBM20 | c.2115C>A (p.Asp705Glu) c.1731C>A (p.Asp577Glu) c.1950C>A (p.Asp650Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812512C>G | CA378371889 | RBM20 | c.2115C>G (p.Asp705Glu) c.1731C>G (p.Asp577Glu) c.1950C>G (p.Asp650Glu) | |
10 | g.110812512C>T | CA471506990 | RBM20 | c.2115C>T (p.Asp705=) c.1731C>T (p.Asp577=) c.1950C>T (p.Asp650=) | |
10 | g.110812513C>A | CA335516 | RBM20 | c.2116C>A (p.Pro706Thr) c.1732C>A (p.Pro578Thr) c.1951C>A (p.Pro651Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812513C>G | CA378371893 | RBM20 | c.2116C>G (p.Pro706Ala) c.1732C>G (p.Pro578Ala) c.1951C>G (p.Pro651Ala) | |
10 | g.110812513C>T | CA378371896 | RBM20 | c.2116C>T (p.Pro706Ser) c.1732C>T (p.Pro578Ser) c.1951C>T (p.Pro651Ser) | gnomAD v4 |
10 | g.110812514C>A | CA378371899 | RBM20 | c.2117C>A (p.Pro706His) c.1733C>A (p.Pro578His) c.1952C>A (p.Pro651His) | |
10 | g.110812514C>G | CA378371902 | RBM20 | c.2117C>G (p.Pro706Arg) c.1733C>G (p.Pro578Arg) c.1952C>G (p.Pro651Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812514C>T | CA378371914 | RBM20 | c.2117C>T (p.Pro706Leu) c.1733C>T (p.Pro578Leu) c.1952C>T (p.Pro651Leu) | |
10 | g.110812515C>A | CA471506999 | RBM20 | c.2118C>A (p.Pro706=) c.1734C>A (p.Pro578=) c.1953C>A (p.Pro651=) | |
10 | g.110812515C>G | CA471507000 | RBM20 | c.2118C>G (p.Pro706=) c.1734C>G (p.Pro578=) c.1953C>G (p.Pro651=) | |
10 | g.110812515C>T | CA471507001 | RBM20 | c.2118C>T (p.Pro706=) c.1734C>T (p.Pro578=) c.1953C>T (p.Pro651=) | ClinVar dbSNP |
10 | g.110812516T>A | CA378371941 | RBM20 | c.2119T>A (p.Trp707Arg) c.1735T>A (p.Trp579Arg) c.1954T>A (p.Trp652Arg) | ClinVar dbSNP gnomAD v4 |
10 | g.110812516T>C | CA378371945 | RBM20 | c.2119T>C (p.Trp707Arg) c.1735T>C (p.Trp579Arg) c.1954T>C (p.Trp652Arg) | ClinVar |
10 | g.110812516T>G | CA378371946 | RBM20 | c.2119T>G (p.Trp707Gly) c.1735T>G (p.Trp579Gly) c.1954T>G (p.Trp652Gly) | |
10 | g.110812517G>A | CA378371947 | RBM20 | c.2120G>A (p.Trp707Ter) c.1736G>A (p.Trp579Ter) c.1955G>A (p.Trp652Ter) | |
10 | g.110812517G>C | CA378371951 | RBM20 | c.2120G>C (p.Trp707Ser) c.1736G>C (p.Trp579Ser) c.1955G>C (p.Trp652Ser) | |
10 | g.110812517G>T | CA378371955 | RBM20 | c.2120G>T (p.Trp707Leu) c.1736G>T (p.Trp579Leu) c.1955G>T (p.Trp652Leu) | |
10 | g.110812518G>A | CA378371969 | RBM20 | c.2121G>A (p.Trp707Ter) c.1737G>A (p.Trp579Ter) c.1956G>A (p.Trp652Ter) | |
10 | g.110812518G>C | CA378371967 | RBM20 | c.2121G>C (p.Trp707Cys) c.1737G>C (p.Trp579Cys) c.1956G>C (p.Trp652Cys) | |
10 | g.110812518G>T | CA378371960 | RBM20 | c.2121G>T (p.Trp707Cys) c.1737G>T (p.Trp579Cys) c.1956G>T (p.Trp652Cys) | |
10 | g.110812519G>A | CA378371972 | RBM20 | c.2122G>A (p.Ala708Thr) c.1738G>A (p.Ala580Thr) c.1957G>A (p.Ala653Thr) | |
10 | g.110812519G>C | CA378371993 | RBM20 | c.2122G>C (p.Ala708Pro) c.1738G>C (p.Ala580Pro) c.1957G>C (p.Ala653Pro) | |
10 | g.110812519G>T | CA378371983 | RBM20 | c.2122G>T (p.Ala708Ser) c.1738G>T (p.Ala580Ser) c.1957G>T (p.Ala653Ser) | |
10 | g.110812520C>A | CA378371997 | RBM20 | c.2123C>A (p.Ala708Glu) c.1739C>A (p.Ala580Glu) c.1958C>A (p.Ala653Glu) | dbSNP |
10 | g.110812520C>G | CA5688668 | RBM20 | c.2123C>G (p.Ala708Gly) c.1739C>G (p.Ala580Gly) c.1958C>G (p.Ala653Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812520C>T | CA378371998 | RBM20 | c.2123C>T (p.Ala708Val) c.1739C>T (p.Ala580Val) c.1958C>T (p.Ala653Val) | gnomAD v4 |
10 | g.110812521A>C | CA471507008 | RBM20 | c.2124A>C (p.Ala708=) c.1740A>C (p.Ala580=) c.1959A>C (p.Ala653=) | |
10 | g.110812521A>G | CA471507009 | RBM20 | c.2124A>G (p.Ala708=) c.1740A>G (p.Ala580=) c.1959A>G (p.Ala653=) | |
10 | g.110812521A>T | CA471507010 | RBM20 | c.2124A>T (p.Ala708=) c.1740A>T (p.Ala580=) c.1959A>T (p.Ala653=) | gnomAD v4 |
10 | g.110812522C>A | CA378371999 | RBM20 | c.2125C>A (p.His709Asn) c.1741C>A (p.His581Asn) c.1960C>A (p.His654Asn) | |
10 | g.110812522C>G | CA378372003 | RBM20 | c.2125C>G (p.His709Asp) c.1741C>G (p.His581Asp) c.1960C>G (p.His654Asp) | |
10 | g.110812522C>T | CA378372013 | RBM20 | c.2125C>T (p.His709Tyr) c.1741C>T (p.His581Tyr) c.1960C>T (p.His654Tyr) | |
10 | g.110812523A>C | CA378372018 | RBM20 | c.2126A>C (p.His709Pro) c.1742A>C (p.His581Pro) c.1961A>C (p.His654Pro) | |
10 | g.110812523A>G | CA378372025 | RBM20 | c.2126A>G (p.His709Arg) c.1742A>G (p.His581Arg) c.1961A>G (p.His654Arg) | ClinVar dbSNP gnomAD v4 |
10 | g.110812523A>T | CA378372046 | RBM20 | c.2126A>T (p.His709Leu) c.1742A>T (p.His581Leu) c.1961A>T (p.His654Leu) | |
10 | g.110812524T>A | CA378372055 | RBM20 | c.2127T>A (p.His709Gln) c.1743T>A (p.His581Gln) c.1962T>A (p.His654Gln) | |
10 | g.110812524T>C | CA471507018 | RBM20 | c.2127T>C (p.His709=) c.1743T>C (p.His581=) c.1962T>C (p.His654=) | |
10 | g.110812524T>G | CA378372059 | RBM20 | c.2127T>G (p.His709Gln) c.1743T>G (p.His581Gln) c.1962T>G (p.His654Gln) | |
10 | g.110812525G>A | CA378372062 | RBM20 | c.2128G>A (p.Asp710Asn) c.1744G>A (p.Asp582Asn) c.1963G>A (p.Asp655Asn) | |
10 | g.110812525G>C | CA378372061 | RBM20 | c.2128G>C (p.Asp710His) c.1744G>C (p.Asp582His) c.1963G>C (p.Asp655His) | |
10 | g.110812525G>T | CA378372060 | RBM20 | c.2128G>T (p.Asp710Tyr) c.1744G>T (p.Asp582Tyr) c.1963G>T (p.Asp655Tyr) | |
10 | g.110812526A>C | CA378372065 | RBM20 | c.2129A>C (p.Asp710Ala) c.1745A>C (p.Asp582Ala) c.1964A>C (p.Asp655Ala) | |
10 | g.110812526A>G | CA378372068 | RBM20 | c.2129A>G (p.Asp710Gly) c.1745A>G (p.Asp582Gly) c.1964A>G (p.Asp655Gly) | gnomAD v4 |
10 | g.110812526A>T | CA378372076 | RBM20 | c.2129A>T (p.Asp710Val) c.1745A>T (p.Asp582Val) c.1964A>T (p.Asp655Val) | |
10 | g.110812527T>A | CA378372083 | RBM20 | c.2130T>A (p.Asp710Glu) c.1746T>A (p.Asp582Glu) c.1965T>A (p.Asp655Glu) | |
10 | g.110812527T>C | CA471507027 | RBM20 | c.2130T>C (p.Asp710=) c.1746T>C (p.Asp582=) c.1965T>C (p.Asp655=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812527T>G | CA378372086 | RBM20 | c.2130T>G (p.Asp710Glu) c.1746T>G (p.Asp582Glu) c.1965T>G (p.Asp655Glu) | |
10 | g.110812528C>A | CA378372087 | RBM20 | c.2131C>A (p.Arg711Ser) c.1747C>A (p.Arg583Ser) c.1966C>A (p.Arg656Ser) | |
10 | g.110812528C>G | CA378372089 | RBM20 | c.2131C>G (p.Arg711Gly) c.1747C>G (p.Arg583Gly) c.1966C>G (p.Arg656Gly) | ClinVar dbSNP |
10 | g.110812528C>T | CA10587690 | RBM20 | c.2131C>T (p.Arg711Cys) c.1747C>T (p.Arg583Cys) c.1966C>T (p.Arg656Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.110812529G>A | CA378372098 | RBM20 | c.2132G>A (p.Arg711His) c.1748G>A (p.Arg583His) c.1967G>A (p.Arg656His) | ClinVar dbSNP |
10 | g.110812529G>C | CA378372114 | RBM20 | c.2132G>C (p.Arg711Pro) c.1748G>C (p.Arg583Pro) c.1967G>C (p.Arg656Pro) | ClinVar dbSNP |
10 | g.110812529G>T | CA378372118 | RBM20 | c.2132G>T (p.Arg711Leu) c.1748G>T (p.Arg583Leu) c.1967G>T (p.Arg656Leu) | gnomAD v4 |
10 | g.110812530C>A | CA471507032 | RBM20 | c.2133C>A (p.Arg711=) c.1749C>A (p.Arg583=) c.1968C>A (p.Arg656=) | |
10 | g.110812530C>G | CA471507035 | RBM20 | c.2133C>G (p.Arg711=) c.1749C>G (p.Arg583=) c.1968C>G (p.Arg656=) | |
10 | g.110812530C>T | CA471507036 | RBM20 | c.2133C>T (p.Arg711=) c.1749C>T (p.Arg583=) c.1968C>T (p.Arg656=) | gnomAD v4 |
10 | g.110812531A>C | CA378372123 | RBM20 | c.2134A>C (p.Lys712Gln) c.1750A>C (p.Lys584Gln) c.1969A>C (p.Lys657Gln) | |
10 | g.110812531A>G | CA378372122 | RBM20 | c.2134A>G (p.Lys712Glu) c.1750A>G (p.Lys584Glu) c.1969A>G (p.Lys657Glu) | |
10 | g.110812531A>T | CA378372121 | RBM20 | c.2134A>T (p.Lys712Ter) c.1750A>T (p.Lys584Ter) c.1969A>T (p.Lys657Ter) | |
10 | g.110812532A>C | CA378372125 | RBM20 | c.2135A>C (p.Lys712Thr) c.1751A>C (p.Lys584Thr) c.1970A>C (p.Lys657Thr) | |
10 | g.110812532A>G | CA378372126 | RBM20 | c.2135A>G (p.Lys712Arg) c.1751A>G (p.Lys584Arg) c.1970A>G (p.Lys657Arg) | |
10 | g.110812532A>T | CA378372127 | RBM20 | c.2135A>T (p.Lys712Ile) c.1751A>T (p.Lys584Ile) c.1970A>T (p.Lys657Ile) | gnomAD v4 |
10 | g.110812533A>C | CA378372131 | RBM20 | c.2136A>C (p.Lys712Asn) c.1752A>C (p.Lys584Asn) c.1971A>C (p.Lys657Asn) | |
10 | g.110812533A>G | CA471507043 | RBM20 | c.2136A>G (p.Lys712=) c.1752A>G (p.Lys584=) c.1971A>G (p.Lys657=) | dbSNP |
10 | g.110812533A>T | CA378372137 | RBM20 | c.2136A>T (p.Lys712Asn) c.1752A>T (p.Lys584Asn) c.1971A>T (p.Lys657Asn) | |
10 | g.110812534C>A | CA378372140 | RBM20 | c.2137C>A (p.His713Asn) c.1753C>A (p.His585Asn) c.1972C>A (p.His658Asn) | |
10 | g.110812534C>G | CA378372149 | RBM20 | c.2137C>G (p.His713Asp) c.1753C>G (p.His585Asp) c.1972C>G (p.His658Asp) | |
10 | g.110812534C>T | CA378372154 | RBM20 | c.2137C>T (p.His713Tyr) c.1753C>T (p.His585Tyr) c.1972C>T (p.His658Tyr) | dbSNP |
10 | g.110812535A>C | CA378372155 | RBM20 | c.2138A>C (p.His713Pro) c.1754A>C (p.His585Pro) c.1973A>C (p.His658Pro) | |
10 | g.110812535A>G | CA378372159 | RBM20 | c.2138A>G (p.His713Arg) c.1754A>G (p.His585Arg) c.1973A>G (p.His658Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812535A>T | CA378372160 | RBM20 | c.2138A>T (p.His713Leu) c.1754A>T (p.His585Leu) c.1973A>T (p.His658Leu) | |
10 | g.110812536C>A | CA378372161 | RBM20 | c.2139C>A (p.His713Gln) c.1755C>A (p.His585Gln) c.1974C>A (p.His658Gln) | dbSNP gnomAD v4 |
10 | g.110812536C>G | CA378372162 | RBM20 | c.2139C>G (p.His713Gln) c.1755C>G (p.His585Gln) c.1974C>G (p.His658Gln) | gnomAD v4 |
10 | g.110812536C>T | CA471507050 | RBM20 | c.2139C>T (p.His713=) c.1755C>T (p.His585=) c.1974C>T (p.His658=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812538_110812542dup | CA659824356 | RBM20 | c.2141_2145dup (p.Arg716ThrfsTer?) c.1757_1761dup (p.Arg588ThrfsTer?) c.1976_1980dup (p.Arg661ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812537C>A | CA378372172 | RBM20 | c.2140C>A (p.His714Asn) c.1756C>A (p.His586Asn) c.1975C>A (p.His659Asn) | |
10 | g.110812537C>G | CA378372163 | RBM20 | c.2140C>G (p.His714Asp) c.1756C>G (p.His586Asp) c.1975C>G (p.His659Asp) | |
10 | g.110812537C>T | CA378372170 | RBM20 | c.2140C>T (p.His714Tyr) c.1756C>T (p.His586Tyr) c.1975C>T (p.His659Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812538A>C | CA378372180 | RBM20 | c.2141A>C (p.His714Pro) c.1757A>C (p.His586Pro) c.1976A>C (p.His659Pro) | |
10 | g.110812538A>G | CA378372184 | RBM20 | c.2141A>G (p.His714Arg) c.1757A>G (p.His586Arg) c.1976A>G (p.His659Arg) | |
10 | g.110812538A>T | CA378372188 | RBM20 | c.2141A>T (p.His714Leu) c.1757A>T (p.His586Leu) c.1976A>T (p.His659Leu) | |
10 | g.110812539C>A | CA378372189 | RBM20 | c.2142C>A (p.His714Gln) c.1758C>A (p.His586Gln) c.1977C>A (p.His659Gln) | ClinVar dbSNP gnomAD v4 |
10 | g.110812539C>G | CA378372190 | RBM20 | c.2142C>G (p.His714Gln) c.1758C>G (p.His586Gln) c.1977C>G (p.His659Gln) | |
10 | g.110812539C>T | CA471507053 | RBM20 | c.2142C>T (p.His714=) c.1758C>T (p.His586=) c.1977C>T (p.His659=) | gnomAD v4 |
10 | g.110812540C>A | CA378372192 | RBM20 | c.2143C>A (p.Pro715Thr) c.1759C>A (p.Pro587Thr) c.1978C>A (p.Pro660Thr) | |
10 | g.110812540C>G | CA378372194 | RBM20 | c.2143C>G (p.Pro715Ala) c.1759C>G (p.Pro587Ala) c.1978C>G (p.Pro660Ala) | |
10 | g.110812540C>T | CA378372196 | RBM20 | c.2143C>T (p.Pro715Ser) c.1759C>T (p.Pro587Ser) c.1978C>T (p.Pro660Ser) | |
10 | g.110812541C>A | CA378372198 | RBM20 | c.2144C>A (p.Pro715His) c.1760C>A (p.Pro587His) c.1979C>A (p.Pro660His) | |
10 | g.110812541C>G | CA378372201 | RBM20 | c.2144C>G (p.Pro715Arg) c.1760C>G (p.Pro587Arg) c.1979C>G (p.Pro660Arg) | |
10 | g.110812541C>T | CA378372207 | RBM20 | c.2144C>T (p.Pro715Leu) c.1760C>T (p.Pro587Leu) c.1979C>T (p.Pro660Leu) | |
10 | g.110812542C>A | CA471507058 | RBM20 | c.2145C>A (p.Pro715=) c.1761C>A (p.Pro587=) c.1980C>A (p.Pro660=) | |
10 | g.110812542C>G | CA471507060 | RBM20 | c.2145C>G (p.Pro715=) c.1761C>G (p.Pro587=) c.1980C>G (p.Pro660=) | |
10 | g.110812542C>T | CA5688669 | RBM20 | c.2145C>T (p.Pro715=) c.1761C>T (p.Pro587=) c.1980C>T (p.Pro660=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812543C>A | CA471507062 | RBM20 | c.2146C>A (p.Arg716=) c.1762C>A (p.Arg588=) c.1981C>A (p.Arg661=) | |
10 | g.110812543C>G | CA378372212 | RBM20 | c.2146C>G (p.Arg716Gly) c.1762C>G (p.Arg588Gly) c.1981C>G (p.Arg661Gly) | gnomAD v4 |
10 | g.110812543C>T | CA378372218 | RBM20 | c.2146C>T (p.Arg716Trp) c.1762C>T (p.Arg588Trp) c.1981C>T (p.Arg661Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812544G>A | CA133304 | RBM20 | c.2147G>A (p.Arg716Gln) c.1763G>A (p.Arg588Gln) c.1982G>A (p.Arg661Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812544G>C | CA378372225 | RBM20 | c.2147G>C (p.Arg716Pro) c.1763G>C (p.Arg588Pro) c.1982G>C (p.Arg661Pro) | gnomAD v4 |
10 | g.110812544G>T | CA378372222 | RBM20 | c.2147G>T (p.Arg716Leu) c.1763G>T (p.Arg588Leu) c.1982G>T (p.Arg661Leu) | |
10 | g.110812545G>A | CA471507067 | RBM20 | c.2148G>A (p.Arg716=) c.1764G>A (p.Arg588=) c.1983G>A (p.Arg661=) | |
10 | g.110812545G>C | CA471507068 | RBM20 | c.2148G>C (p.Arg716=) c.1764G>C (p.Arg588=) c.1983G>C (p.Arg661=) | |
10 | g.110812545G>T | CA471507069 | RBM20 | c.2148G>T (p.Arg716=) c.1764G>T (p.Arg588=) c.1983G>T (p.Arg661=) | |
10 | g.110812546C>A | CA213223830 | RBM20 | c.2149C>A (p.Gln717Lys) c.1765C>A (p.Gln589Lys) c.1984C>A (p.Gln662Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812546C>G | CA378372238 | RBM20 | c.2149C>G (p.Gln717Glu) c.1765C>G (p.Gln589Glu) c.1984C>G (p.Gln662Glu) | |
10 | g.110812546C>T | CA378372234 | RBM20 | c.2149C>T (p.Gln717Ter) c.1765C>T (p.Gln589Ter) c.1984C>T (p.Gln662Ter) | |
10 | g.110812547A>C | CA378372240 | RBM20 | c.2150A>C (p.Gln717Pro) c.1766A>C (p.Gln589Pro) c.1985A>C (p.Gln662Pro) | |
10 | g.110812547A>G | CA378372242 | RBM20 | c.2150A>G (p.Gln717Arg) c.1766A>G (p.Gln589Arg) c.1985A>G (p.Gln662Arg) | |
10 | g.110812547A>T | CA378372244 | RBM20 | c.2150A>T (p.Gln717Leu) c.1766A>T (p.Gln589Leu) c.1985A>T (p.Gln662Leu) | |
10 | g.110812548A>C | CA378372247 | RBM20 | c.2151A>C (p.Gln717His) c.1767A>C (p.Gln589His) c.1986A>C (p.Gln662His) | |
10 | g.110812548A>G | CA471507074 | RBM20 | c.2151A>G (p.Gln717=) c.1767A>G (p.Gln589=) c.1986A>G (p.Gln662=) | |
10 | g.110812548A>T | CA378372249 | RBM20 | c.2151A>T (p.Gln717His) c.1767A>T (p.Gln589His) c.1986A>T (p.Gln662His) | |
10 | g.110812549C>A | CA378372251 | RBM20 | c.2152C>A (p.Leu718Met) c.1768C>A (p.Leu590Met) c.1987C>A (p.Leu663Met) | |
10 | g.110812549C>G | CA213223846 | RBM20 | c.2152C>G (p.Leu718Val) c.1768C>G (p.Leu590Val) c.1987C>G (p.Leu663Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812549C>T | CA471507078 | RBM20 | c.2152C>T (p.Leu718=) c.1768C>T (p.Leu590=) c.1987C>T (p.Leu663=) | |
10 | g.110812550T>A | CA378372257 | RBM20 | c.2153T>A (p.Leu718Gln) c.1769T>A (p.Leu590Gln) c.1988T>A (p.Leu663Gln) | |
10 | g.110812550T>C | CA5688670 | RBM20 | c.2153T>C (p.Leu718Pro) c.1769T>C (p.Leu590Pro) c.1988T>C (p.Leu663Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812550T>G | CA378372263 | RBM20 | c.2153T>G (p.Leu718Arg) c.1769T>G (p.Leu590Arg) c.1988T>G (p.Leu663Arg) | |
10 | g.110812551G>A | CA471507081 | RBM20 | c.2154G>A (p.Leu718=) c.1770G>A (p.Leu590=) c.1989G>A (p.Leu663=) | gnomAD v4 |
10 | g.110812551G>C | CA471507083 | RBM20 | c.2154G>C (p.Leu718=) c.1770G>C (p.Leu590=) c.1989G>C (p.Leu663=) | gnomAD v4 |
10 | g.110812551G>T | CA471507085 | RBM20 | c.2154G>T (p.Leu718=) c.1770G>T (p.Leu590=) c.1989G>T (p.Leu663=) | |
10 | g.110812552G>A | CA378372269 | RBM20 | c.2155G>A (p.Asp719Asn) c.1771G>A (p.Asp591Asn) c.1990G>A (p.Asp664Asn) | |
10 | g.110812552G>C | CA378372266 | RBM20 | c.2155G>C (p.Asp719His) c.1771G>C (p.Asp591His) c.1990G>C (p.Asp664His) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812552G>T | CA378372265 | RBM20 | c.2155G>T (p.Asp719Tyr) c.1771G>T (p.Asp591Tyr) c.1990G>T (p.Asp664Tyr) | |
10 | g.110812553A>C | CA378372271 | RBM20 | c.2156A>C (p.Asp719Ala) c.1772A>C (p.Asp591Ala) c.1991A>C (p.Asp664Ala) | |
10 | g.110812553A>G | CA378372272 | RBM20 | c.2156A>G (p.Asp719Gly) c.1772A>G (p.Asp591Gly) c.1991A>G (p.Asp664Gly) | |
10 | g.110812553A>T | CA378372273 | RBM20 | c.2156A>T (p.Asp719Val) c.1772A>T (p.Asp591Val) c.1991A>T (p.Asp664Val) | |
10 | g.110812554C>A | CA378372275 | RBM20 | c.2157C>A (p.Asp719Glu) c.1773C>A (p.Asp591Glu) c.1992C>A (p.Asp664Glu) | |
10 | g.110812554C>G | CA378372276 | RBM20 | c.2157C>G (p.Asp719Glu) c.1773C>G (p.Asp591Glu) c.1992C>G (p.Asp664Glu) | |
10 | g.110812554C>T | CA471507087 | RBM20 | c.2157C>T (p.Asp719=) c.1773C>T (p.Asp591=) c.1992C>T (p.Asp664=) | |
10 | g.110812555A>C | CA378372277 | RBM20 | c.2158A>C (p.Lys720Gln) c.1774A>C (p.Lys592Gln) c.1993A>C (p.Lys665Gln) | |
10 | g.110812555A>G | CA335557 | RBM20 | c.2158A>G (p.Lys720Glu) c.1774A>G (p.Lys592Glu) c.1993A>G (p.Lys665Glu) | ClinVar dbSNP gnomAD v4 |
10 | g.110812555A>T | CA378372279 | RBM20 | c.2158A>T (p.Lys720Ter) c.1774A>T (p.Lys592Ter) c.1993A>T (p.Lys665Ter) | |
10 | g.110812556A>C | CA378372280 | RBM20 | c.2159A>C (p.Lys720Thr) c.1775A>C (p.Lys592Thr) c.1994A>C (p.Lys665Thr) | |
10 | g.110812556A>G | CA378372282 | RBM20 | c.2159A>G (p.Lys720Arg) c.1775A>G (p.Lys592Arg) c.1994A>G (p.Lys665Arg) | |
10 | g.110812556A>T | CA378372283 | RBM20 | c.2159A>T (p.Lys720Met) c.1775A>T (p.Lys592Met) c.1994A>T (p.Lys665Met) | |
10 | g.110812557G>A | CA471507090 | RBM20 | c.2160G>A (p.Lys720=) c.1776G>A (p.Lys592=) c.1995G>A (p.Lys665=) | |
10 | g.110812557G>C | CA378372286 | RBM20 | c.2160G>C (p.Lys720Asn) c.1776G>C (p.Lys592Asn) c.1995G>C (p.Lys665Asn) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812557G>T | CA378372284 | RBM20 | c.2160G>T (p.Lys720Asn) c.1776G>T (p.Lys592Asn) c.1995G>T (p.Lys665Asn) | |
10 | g.110812558G>A | CA378372287 | RBM20 | c.2161G>A (p.Ala721Thr) c.1777G>A (p.Ala593Thr) c.1996G>A (p.Ala666Thr) | ClinVar dbSNP gnomAD v4 |
10 | g.110812558G>C | CA378372288 | RBM20 | c.2161G>C (p.Ala721Pro) c.1777G>C (p.Ala593Pro) c.1996G>C (p.Ala666Pro) | |
10 | g.110812558G>T | CA10576769 | RBM20 | c.2161G>T (p.Ala721Ser) c.1777G>T (p.Ala593Ser) c.1996G>T (p.Ala666Ser) | ClinVar dbSNP gnomAD v4 |
10 | g.110812559C>A | CA378372291 | RBM20 | c.2162C>A (p.Ala721Asp) c.1778C>A (p.Ala593Asp) c.1997C>A (p.Ala666Asp) | |
10 | g.110812559C>G | CA378372292 | RBM20 | c.2162C>G (p.Ala721Gly) c.1778C>G (p.Ala593Gly) c.1997C>G (p.Ala666Gly) | |
10 | g.110812559C>T | CA378372294 | RBM20 | c.2162C>T (p.Ala721Val) c.1778C>T (p.Ala593Val) c.1997C>T (p.Ala666Val) | |
10 | g.110812560T>A | CA471507096 | RBM20 | c.2163T>A (p.Ala721=) c.1779T>A (p.Ala593=) c.1998T>A (p.Ala666=) | |
10 | g.110812560T>C | CA471507095 | RBM20 | c.2163T>C (p.Ala721=) c.1779T>C (p.Ala593=) c.1998T>C (p.Ala666=) | |
10 | g.110812560T>G | CA471507097 | RBM20 | c.2163T>G (p.Ala721=) c.1779T>G (p.Ala593=) c.1998T>G (p.Ala666=) | |
10 | g.110812561G>A | CA378372301 | RBM20 | c.2164G>A (p.Glu722Lys) c.1780G>A (p.Glu594Lys) c.1999G>A (p.Glu667Lys) | |
10 | g.110812561G>C | CA378372302 | RBM20 | c.2164G>C (p.Glu722Gln) c.1780G>C (p.Glu594Gln) c.1999G>C (p.Glu667Gln) | |
10 | g.110812561G>T | CA378372305 | RBM20 | c.2164G>T (p.Glu722Ter) c.1780G>T (p.Glu594Ter) c.1999G>T (p.Glu667Ter) | COSMIC |
10 | g.110812562_110812563del | CA2610892817 | RBM20 | c.2165_2166del (p.Glu722ValfsTer?) c.1781_1782del (p.Glu594ValfsTer?) c.2000_2001del (p.Glu667ValfsTer?) | gnomAD v4 |
10 | g.110812564_110812572del | CA2610892818 | RBM20 | c.2167_2175del (p.Leu723_Glu725del) c.1783_1791del (p.Leu595_Glu597del) c.2002_2010del (p.Leu668_Glu670del) | gnomAD v4 |
10 | g.110812562A>C | CA378372313 | RBM20 | c.2165A>C (p.Glu722Ala) c.1781A>C (p.Glu594Ala) c.2000A>C (p.Glu667Ala) | |
10 | g.110812562A>G | CA378372315 | RBM20 | c.2165A>G (p.Glu722Gly) c.1781A>G (p.Glu594Gly) c.2000A>G (p.Glu667Gly) | |
10 | g.110812562A>T | CA378372322 | RBM20 | c.2165A>T (p.Glu722Val) c.1781A>T (p.Glu594Val) c.2000A>T (p.Glu667Val) | gnomAD v4 |
10 | g.110812563G>A | CA471507100 | RBM20 | c.2166G>A (p.Glu722=) c.1782G>A (p.Glu594=) c.2001G>A (p.Glu667=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812563G>C | CA378372327 | RBM20 | c.2166G>C (p.Glu722Asp) c.1782G>C (p.Glu594Asp) c.2001G>C (p.Glu667Asp) | |
10 | g.110812563G>T | CA378372325 | RBM20 | c.2166G>T (p.Glu722Asp) c.1782G>T (p.Glu594Asp) c.2001G>T (p.Glu667Asp) | |
10 | g.110812564T>A | CA378372330 | RBM20 | c.2167T>A (p.Leu723Met) c.1783T>A (p.Leu595Met) c.2002T>A (p.Leu668Met) | |
10 | g.110812564T>C | CA471507104 | RBM20 | c.2167T>C (p.Leu723=) c.1783T>C (p.Leu595=) c.2002T>C (p.Leu668=) | |
10 | g.110812564T>G | CA378372331 | RBM20 | c.2167T>G (p.Leu723Val) c.1783T>G (p.Leu595Val) c.2002T>G (p.Leu668Val) | |
10 | g.110812565T>A | CA378372334 | RBM20 | c.2168T>A (p.Leu723Ter) c.1784T>A (p.Leu595Ter) c.2003T>A (p.Leu668Ter) | |
10 | g.110812565T>C | CA5688671 | RBM20 | c.2168T>C (p.Leu723Ser) c.1784T>C (p.Leu595Ser) c.2003T>C (p.Leu668Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812565T>G | CA378372337 | RBM20 | c.2168T>G (p.Leu723Trp) c.1784T>G (p.Leu595Trp) c.2003T>G (p.Leu668Trp) | |
10 | g.110812566G>A | CA471507108 | RBM20 | c.2169G>A (p.Leu723=) c.1785G>A (p.Leu595=) c.2004G>A (p.Leu668=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812566G>C | CA378372343 | RBM20 | c.2169G>C (p.Leu723Phe) c.1785G>C (p.Leu595Phe) c.2004G>C (p.Leu668Phe) | |
10 | g.110812566G>T | CA378372345 | RBM20 | c.2169G>T (p.Leu723Phe) c.1785G>T (p.Leu595Phe) c.2004G>T (p.Leu668Phe) | |
10 | g.110812567G>A | CA378372347 | RBM20 | c.2170G>A (p.Asp724Asn) c.1786G>A (p.Asp596Asn) c.2005G>A (p.Asp669Asn) | gnomAD v4 |
10 | g.110812567G>C | CA378372350 | RBM20 | c.2170G>C (p.Asp724His) c.1786G>C (p.Asp596His) c.2005G>C (p.Asp669His) | |
10 | g.110812567G>T | CA378372351 | RBM20 | c.2170G>T (p.Asp724Tyr) c.1786G>T (p.Asp596Tyr) c.2005G>T (p.Asp669Tyr) |