Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110812365C>A | CA378370585 | RBM20 | c.1968C>A (p.Ser656Arg) c.1584C>A (p.Ser528Arg) c.1803C>A (p.Ser601Arg) | |
10 | g.110812365C>G | CA378370588 | RBM20 | c.1968C>G (p.Ser656Arg) c.1584C>G (p.Ser528Arg) c.1803C>G (p.Ser601Arg) | |
10 | g.110812365C>T | CA471368087 | RBM20 | c.1968C>T (p.Ser656=) c.1584C>T (p.Ser528=) c.1803C>T (p.Ser601=) | |
10 | g.110812366T>A | CA213223631 | RBM20 | c.1969T>A (p.Ser657Thr) c.1585T>A (p.Ser529Thr) c.1804T>A (p.Ser602Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812366T>C | CA378370592 | RBM20 | c.1969T>C (p.Ser657Pro) c.1585T>C (p.Ser529Pro) c.1804T>C (p.Ser602Pro) | |
10 | g.110812366T>G | CA378370594 | RBM20 | c.1969T>G (p.Ser657Ala) c.1585T>G (p.Ser529Ala) c.1804T>G (p.Ser602Ala) | |
10 | g.110812366_110812367delinsAG | CA658797537 | RBM20 | c.1969_1970delinsAG (p.Ser657=) c.1585_1586delinsAG (p.Ser529=) c.1804_1805delinsAG (p.Ser602=) | ClinVar dbSNP |
10 | g.110812366_110812367delinsAT | CA1139770359 | RBM20 | c.1969_1970delinsAT (p.Ser657Ile) c.1585_1586delinsAT (p.Ser529Ile) c.1804_1805delinsAT (p.Ser602Ile) | ClinVar |
10 | g.110812367C>A | CA378370595 | RBM20 | c.1970C>A (p.Ser657Tyr) c.1586C>A (p.Ser529Tyr) c.1805C>A (p.Ser602Tyr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812367C>G | CA213223641 | RBM20 | c.1970C>G (p.Ser657Cys) c.1586C>G (p.Ser529Cys) c.1805C>G (p.Ser602Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812367C>T | CA378370607 | RBM20 | c.1970C>T (p.Ser657Phe) c.1586C>T (p.Ser529Phe) c.1805C>T (p.Ser602Phe) | gnomAD v4 |
10 | g.110812368T>A | CA471368089 | RBM20 | c.1971T>A (p.Ser657=) c.1587T>A (p.Ser529=) c.1806T>A (p.Ser602=) | |
10 | g.110812368T>C | CA471368090 | RBM20 | c.1971T>C (p.Ser657=) c.1587T>C (p.Ser529=) c.1806T>C (p.Ser602=) | |
10 | g.110812368T>G | CA471368088 | RBM20 | c.1971T>G (p.Ser657=) c.1587T>G (p.Ser529=) c.1806T>G (p.Ser602=) | |
10 | g.110812369T>A | CA378370611 | RBM20 | c.1972T>A (p.Ser658Thr) c.1588T>A (p.Ser530Thr) c.1807T>A (p.Ser603Thr) | |
10 | g.110812369T>C | CA378370614 | RBM20 | c.1972T>C (p.Ser658Pro) c.1588T>C (p.Ser530Pro) c.1807T>C (p.Ser603Pro) | |
10 | g.110812369T>G | CA378370625 | RBM20 | c.1972T>G (p.Ser658Ala) c.1588T>G (p.Ser530Ala) c.1807T>G (p.Ser603Ala) | |
10 | g.110812372_110812382del | CA596112340 | RBM20 | c.1975_1985del (p.His659GlyfsTer6) c.1591_1601del (p.His531GlyfsTer6) c.1810_1820del (p.His604GlyfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812370C>A | CA378370630 | RBM20 | c.1973C>A (p.Ser658Tyr) c.1589C>A (p.Ser530Tyr) c.1808C>A (p.Ser603Tyr) | |
10 | g.110812370C>G | CA133292 | RBM20 | c.1973C>G (p.Ser658Cys) c.1589C>G (p.Ser530Cys) c.1808C>G (p.Ser603Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812370C>T | CA378370627 | RBM20 | c.1973C>T (p.Ser658Phe) c.1589C>T (p.Ser530Phe) c.1808C>T (p.Ser603Phe) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812371C>A | CA471368092 | RBM20 | c.1974C>A (p.Ser658=) c.1590C>A (p.Ser530=) c.1809C>A (p.Ser603=) | |
10 | g.110812371C>G | CA471368091 | RBM20 | c.1974C>G (p.Ser658=) c.1590C>G (p.Ser530=) c.1809C>G (p.Ser603=) | |
10 | g.110812371C>T | CA5688654 | RBM20 | c.1974C>T (p.Ser658=) c.1590C>T (p.Ser530=) c.1809C>T (p.Ser603=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812372C>A | CA378370637 | RBM20 | c.1975C>A (p.His659Asn) c.1591C>A (p.His531Asn) c.1810C>A (p.His604Asn) | |
10 | g.110812372C>G | CA378370639 | RBM20 | c.1975C>G (p.His659Asp) c.1591C>G (p.His531Asp) c.1810C>G (p.His604Asp) | |
10 | g.110812372C>T | CA5688655 | RBM20 | c.1975C>T (p.His659Tyr) c.1591C>T (p.His531Tyr) c.1810C>T (p.His604Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812373A>C | CA378370644 | RBM20 | c.1976A>C (p.His659Pro) c.1592A>C (p.His531Pro) c.1811A>C (p.His604Pro) | |
10 | g.110812373A>G | CA378370651 | RBM20 | c.1976A>G (p.His659Arg) c.1592A>G (p.His531Arg) c.1811A>G (p.His604Arg) | |
10 | g.110812373A>T | CA378370654 | RBM20 | c.1976A>T (p.His659Leu) c.1592A>T (p.His531Leu) c.1811A>T (p.His604Leu) | |
10 | g.110812374C>A | CA378370655 | RBM20 | c.1977C>A (p.His659Gln) c.1593C>A (p.His531Gln) c.1812C>A (p.His604Gln) | |
10 | g.110812374C>G | CA378370656 | RBM20 | c.1977C>G (p.His659Gln) c.1593C>G (p.His531Gln) c.1812C>G (p.His604Gln) | |
10 | g.110812374C>T | CA471368093 | RBM20 | c.1977C>T (p.His659=) c.1593C>T (p.His531=) c.1812C>T (p.His604=) | gnomAD v4 |
10 | g.110812375del | CA2574667578 | RBM20 | c.1978del (p.Ser660AlafsTer?) c.1594del (p.Ser532AlafsTer?) c.1813del (p.Ser605AlafsTer?) | |
10 | g.110812375A>C | CA378370659 | RBM20 | c.1978A>C (p.Ser660Arg) c.1594A>C (p.Ser532Arg) c.1813A>C (p.Ser605Arg) | |
10 | g.110812375A>G | CA378370662 | RBM20 | c.1978A>G (p.Ser660Gly) c.1594A>G (p.Ser532Gly) c.1813A>G (p.Ser605Gly) | gnomAD v4 |
10 | g.110812375A>T | CA378370665 | RBM20 | c.1978A>T (p.Ser660Cys) c.1594A>T (p.Ser532Cys) c.1813A>T (p.Ser605Cys) | |
10 | g.110812376G>A | CA378370673 | RBM20 | c.1979G>A (p.Ser660Asn) c.1595G>A (p.Ser532Asn) c.1814G>A (p.Ser605Asn) | |
10 | g.110812376G>C | CA378370676 | RBM20 | c.1979G>C (p.Ser660Thr) c.1595G>C (p.Ser532Thr) c.1814G>C (p.Ser605Thr) | |
10 | g.110812376G>T | CA378370670 | RBM20 | c.1979G>T (p.Ser660Ile) c.1595G>T (p.Ser532Ile) c.1814G>T (p.Ser605Ile) | |
10 | g.110812377C>A | CA378370679 | RBM20 | c.1980C>A (p.Ser660Arg) c.1596C>A (p.Ser532Arg) c.1815C>A (p.Ser605Arg) | ClinVar gnomAD v4 |
10 | g.110812377C>G | CA378370682 | RBM20 | c.1980C>G (p.Ser660Arg) c.1596C>G (p.Ser532Arg) c.1815C>G (p.Ser605Arg) | |
10 | g.110812377C>T | CA471368094 | RBM20 | c.1980C>T (p.Ser660=) c.1596C>T (p.Ser532=) c.1815C>T (p.Ser605=) | |
10 | g.110812378C>A | CA378370684 | RBM20 | c.1981C>A (p.Pro661Thr) c.1597C>A (p.Pro533Thr) c.1816C>A (p.Pro606Thr) | |
10 | g.110812378C>G | CA378370695 | RBM20 | c.1981C>G (p.Pro661Ala) c.1597C>G (p.Pro533Ala) c.1816C>G (p.Pro606Ala) | |
10 | g.110812378C>T | CA378370699 | RBM20 | c.1981C>T (p.Pro661Ser) c.1597C>T (p.Pro533Ser) c.1816C>T (p.Pro606Ser) | dbSNP gnomAD v2 |
10 | g.110812379C>A | CA378370708 | RBM20 | c.1982C>A (p.Pro661His) c.1598C>A (p.Pro533His) c.1817C>A (p.Pro606His) | |
10 | g.110812379C>G | CA378370704 | RBM20 | c.1982C>G (p.Pro661Arg) c.1598C>G (p.Pro533Arg) c.1817C>G (p.Pro606Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812379C>T | CA378370706 | RBM20 | c.1982C>T (p.Pro661Leu) c.1598C>T (p.Pro533Leu) c.1817C>T (p.Pro606Leu) | |
10 | g.110812380T>A | CA471368095 | RBM20 | c.1983T>A (p.Pro661=) c.1599T>A (p.Pro533=) c.1818T>A (p.Pro606=) | |
10 | g.110812380T>C | CA471368096 | RBM20 | c.1983T>C (p.Pro661=) c.1599T>C (p.Pro533=) c.1818T>C (p.Pro606=) | |
10 | g.110812380T>G | CA471368097 | RBM20 | c.1983T>G (p.Pro661=) c.1599T>G (p.Pro533=) c.1818T>G (p.Pro606=) | |
10 | g.110812381C>A | CA378370711 | RBM20 | c.1984C>A (p.Pro662Thr) c.1600C>A (p.Pro534Thr) c.1819C>A (p.Pro607Thr) | |
10 | g.110812381C>G | CA378370714 | RBM20 | c.1984C>G (p.Pro662Ala) c.1600C>G (p.Pro534Ala) c.1819C>G (p.Pro607Ala) | ClinVar |
10 | g.110812381C>T | CA5688656 | RBM20 | c.1984C>T (p.Pro662Ser) c.1600C>T (p.Pro534Ser) c.1819C>T (p.Pro607Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812387_110812397del | CA2573145560 | RBM20 | c.1990_2000del (p.Pro664Ter) c.1606_1616del (p.Pro536Ter) c.1825_1835del (p.Pro609Ter) | ClinVar dbSNP |
10 | g.110812382C>A | CA378370720 | RBM20 | c.1985C>A (p.Pro662Gln) c.1601C>A (p.Pro534Gln) c.1820C>A (p.Pro607Gln) | dbSNP gnomAD v4 |
10 | g.110812382C>G | CA378370726 | RBM20 | c.1985C>G (p.Pro662Arg) c.1601C>G (p.Pro534Arg) c.1820C>G (p.Pro607Arg) | |
10 | g.110812382C>T | CA213223650 | RBM20 | c.1985C>T (p.Pro662Leu) c.1601C>T (p.Pro534Leu) c.1820C>T (p.Pro607Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812383G>A | CA184745 | RBM20 | c.1986G>A (p.Pro662=) c.1602G>A (p.Pro534=) c.1821G>A (p.Pro607=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812383G>C | CA471368098 | RBM20 | c.1986G>C (p.Pro662=) c.1602G>C (p.Pro534=) c.1821G>C (p.Pro607=) | |
10 | g.110812383G>T | CA471368099 | RBM20 | c.1986G>T (p.Pro662=) c.1602G>T (p.Pro534=) c.1821G>T (p.Pro607=) | |
10 | g.110812384G>A | CA378370746 | RBM20 | c.1987G>A (p.Gly663Ser) c.1603G>A (p.Gly535Ser) c.1822G>A (p.Gly608Ser) | gnomAD v4 |
10 | g.110812384G>C | CA378370744 | RBM20 | c.1987G>C (p.Gly663Arg) c.1603G>C (p.Gly535Arg) c.1822G>C (p.Gly608Arg) | |
10 | g.110812384G>T | CA378370750 | RBM20 | c.1987G>T (p.Gly663Cys) c.1603G>T (p.Gly535Cys) c.1822G>T (p.Gly608Cys) | |
10 | g.110812385G>A | CA348688 | RBM20 | c.1988G>A (p.Gly663Asp) c.1604G>A (p.Gly535Asp) c.1823G>A (p.Gly608Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812385G>C | CA378370756 | RBM20 | c.1988G>C (p.Gly663Ala) c.1604G>C (p.Gly535Ala) c.1823G>C (p.Gly608Ala) | gnomAD v4 |
10 | g.110812385G>T | CA378370759 | RBM20 | c.1988G>T (p.Gly663Val) c.1604G>T (p.Gly535Val) c.1823G>T (p.Gly608Val) | |
10 | g.110812385_110812386insT | CA2610892815 | RBM20 | c.1988_1989insT (p.Ser665LeufsTer4) c.1604_1605insT (p.Ser537LeufsTer4) c.1823_1824insT (p.Ser610LeufsTer4) | gnomAD v4 |
10 | g.110812386C>A | CA471368100 | RBM20 | c.1989C>A (p.Gly663=) c.1605C>A (p.Gly535=) c.1824C>A (p.Gly608=) | gnomAD v4 |
10 | g.110812386C>G | CA471368101 | RBM20 | c.1989C>G (p.Gly663=) c.1605C>G (p.Gly535=) c.1824C>G (p.Gly608=) | |
10 | g.110812386C>T | CA5688657 | RBM20 | c.1989C>T (p.Gly663=) c.1605C>T (p.Gly535=) c.1824C>T (p.Gly608=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812387C>A | CA378370765 | RBM20 | c.1990C>A (p.Pro664Thr) c.1606C>A (p.Pro536Thr) c.1825C>A (p.Pro609Thr) | |
10 | g.110812387C>G | CA378370768 | RBM20 | c.1990C>G (p.Pro664Ala) c.1606C>G (p.Pro536Ala) c.1825C>G (p.Pro609Ala) | |
10 | g.110812387C>T | CA378370770 | RBM20 | c.1990C>T (p.Pro664Ser) c.1606C>T (p.Pro536Ser) c.1825C>T (p.Pro609Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812388C>A | CA378370773 | RBM20 | c.1991C>A (p.Pro664His) c.1607C>A (p.Pro536His) c.1826C>A (p.Pro609His) | |
10 | g.110812388C>G | CA378370774 | RBM20 | c.1991C>G (p.Pro664Arg) c.1607C>G (p.Pro536Arg) c.1826C>G (p.Pro609Arg) | dbSNP gnomAD v4 |
10 | g.110812388C>T | CA378370777 | RBM20 | c.1991C>T (p.Pro664Leu) c.1607C>T (p.Pro536Leu) c.1826C>T (p.Pro609Leu) | gnomAD v4 |
10 | g.110812389C>A | CA213223656 | RBM20 | c.1992C>A (p.Pro664=) c.1608C>A (p.Pro536=) c.1827C>A (p.Pro609=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812389C>G | CA471368102 | RBM20 | c.1992C>G (p.Pro664=) c.1608C>G (p.Pro536=) c.1827C>G (p.Pro609=) | |
10 | g.110812389C>T | CA133295 | RBM20 | c.1992C>T (p.Pro664=) c.1608C>T (p.Pro536=) c.1827C>T (p.Pro609=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812390T>A | CA378370783 | RBM20 | c.1993T>A (p.Ser665Thr) c.1609T>A (p.Ser537Thr) c.1828T>A (p.Ser610Thr) | |
10 | g.110812390T>C | CA378370785 | RBM20 | c.1993T>C (p.Ser665Pro) c.1609T>C (p.Ser537Pro) c.1828T>C (p.Ser610Pro) | |
10 | g.110812390T>G | CA378370789 | RBM20 | c.1993T>G (p.Ser665Ala) c.1609T>G (p.Ser537Ala) c.1828T>G (p.Ser610Ala) | |
10 | g.110812391C>A | CA378370797 | RBM20 | c.1994C>A (p.Ser665Tyr) c.1610C>A (p.Ser537Tyr) c.1829C>A (p.Ser610Tyr) | |
10 | g.110812391C>G | CA5688658 | RBM20 | c.1994C>G (p.Ser665Cys) c.1610C>G (p.Ser537Cys) c.1829C>G (p.Ser610Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812391C>T | CA378370792 | RBM20 | c.1994C>T (p.Ser665Phe) c.1610C>T (p.Ser537Phe) c.1829C>T (p.Ser610Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812392C>A | CA471368103 | RBM20 | c.1995C>A (p.Ser665=) c.1611C>A (p.Ser537=) c.1830C>A (p.Ser610=) | |
10 | g.110812392C>G | CA471368104 | RBM20 | c.1995C>G (p.Ser665=) c.1611C>G (p.Ser537=) c.1830C>G (p.Ser610=) | |
10 | g.110812392C>T | CA471368105 | RBM20 | c.1995C>T (p.Ser665=) c.1611C>T (p.Ser537=) c.1830C>T (p.Ser610=) | ClinVar dbSNP |
10 | g.110812393C>A | CA471368106 | RBM20 | c.1996C>A (p.Arg666=) c.1612C>A (p.Arg538=) c.1831C>A (p.Arg611=) | gnomAD v4 |
10 | g.110812393C>G | CA378370800 | RBM20 | c.1996C>G (p.Arg666Gly) c.1612C>G (p.Arg538Gly) c.1831C>G (p.Arg611Gly) | |
10 | g.110812393C>T | CA5688659 | RBM20 | c.1996C>T (p.Arg666Trp) c.1612C>T (p.Arg538Trp) c.1831C>T (p.Arg611Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812394G>A | CA213223665 | RBM20 | c.1997G>A (p.Arg666Gln) c.1613G>A (p.Arg538Gln) c.1832G>A (p.Arg611Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812394G>C | CA378370811 | RBM20 | c.1997G>C (p.Arg666Pro) c.1613G>C (p.Arg538Pro) c.1832G>C (p.Arg611Pro) | |
10 | g.110812394G>T | CA378370813 | RBM20 | c.1997G>T (p.Arg666Leu) c.1613G>T (p.Arg538Leu) c.1832G>T (p.Arg611Leu) | |
10 | g.110812395G>A | CA471368107 | RBM20 | c.1998G>A (p.Arg666=) c.1614G>A (p.Arg538=) c.1833G>A (p.Arg611=) | gnomAD v4 |
10 | g.110812395G>C | CA471368108 | RBM20 | c.1998G>C (p.Arg666=) c.1614G>C (p.Arg538=) c.1833G>C (p.Arg611=) | |
10 | g.110812395G>T | CA471368109 | RBM20 | c.1998G>T (p.Arg666=) c.1614G>T (p.Arg538=) c.1833G>T (p.Arg611=) | |
10 | g.110812396G>A | CA378370819 | RBM20 | c.1999G>A (p.Ala667Thr) c.1615G>A (p.Ala539Thr) c.1834G>A (p.Ala612Thr) | ClinVar |
10 | g.110812396G>C | CA5688660 | RBM20 | c.1999G>C (p.Ala667Pro) c.1615G>C (p.Ala539Pro) c.1834G>C (p.Ala612Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110812396G>T | CA378370823 | RBM20 | c.1999G>T (p.Ala667Ser) c.1615G>T (p.Ala539Ser) c.1834G>T (p.Ala612Ser) | dbSNP gnomAD v4 |
10 | g.110812397C>A | CA378370825 | RBM20 | c.2000C>A (p.Ala667Asp) c.1616C>A (p.Ala539Asp) c.1835C>A (p.Ala612Asp) | |
10 | g.110812397C>G | CA378370828 | RBM20 | c.2000C>G (p.Ala667Gly) c.1616C>G (p.Ala539Gly) c.1835C>G (p.Ala612Gly) | |
10 | g.110812397C>T | CA378370831 | RBM20 | c.2000C>T (p.Ala667Val) c.1616C>T (p.Ala539Val) c.1835C>T (p.Ala612Val) | |
10 | g.110812398T>A | CA471368110 | RBM20 | c.2001T>A (p.Ala667=) c.1617T>A (p.Ala539=) c.1836T>A (p.Ala612=) | |
10 | g.110812398T>C | CA471368111 | RBM20 | c.2001T>C (p.Ala667=) c.1617T>C (p.Ala539=) c.1836T>C (p.Ala612=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812398T>G | CA471368112 | RBM20 | c.2001T>G (p.Ala667=) c.1617T>G (p.Ala539=) c.1836T>G (p.Ala612=) | |
10 | g.110812399G>A | CA378370834 | RBM20 | c.2002G>A (p.Asp668Asn) c.1618G>A (p.Asp540Asn) c.1837G>A (p.Asp613Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812399G>C | CA378370842 | RBM20 | c.2002G>C (p.Asp668His) c.1618G>C (p.Asp540His) c.1837G>C (p.Asp613His) | |
10 | g.110812399G>T | CA378370844 | RBM20 | c.2002G>T (p.Asp668Tyr) c.1618G>T (p.Asp540Tyr) c.1837G>T (p.Asp613Tyr) | |
10 | g.110812400A>C | CA378370849 | RBM20 | c.2003A>C (p.Asp668Ala) c.1619A>C (p.Asp540Ala) c.1838A>C (p.Asp613Ala) | |
10 | g.110812400A>G | CA378370852 | RBM20 | c.2003A>G (p.Asp668Gly) c.1619A>G (p.Asp540Gly) c.1838A>G (p.Asp613Gly) | |
10 | g.110812400A>T | CA378370847 | RBM20 | c.2003A>T (p.Asp668Val) c.1619A>T (p.Asp540Val) c.1838A>T (p.Asp613Val) | |
10 | g.110812401C>A | CA5688661 | RBM20 | c.2004C>A (p.Asp668Glu) c.1620C>A (p.Asp540Glu) c.1839C>A (p.Asp613Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812401C>G | CA378370853 | RBM20 | c.2004C>G (p.Asp668Glu) c.1620C>G (p.Asp540Glu) c.1839C>G (p.Asp613Glu) | |
10 | g.110812401C>T | CA471368113 | RBM20 | c.2004C>T (p.Asp668=) c.1620C>T (p.Asp540=) c.1839C>T (p.Asp613=) | |
10 | g.110812402T>A | CA378370854 | RBM20 | c.2005T>A (p.Trp669Arg) c.1621T>A (p.Trp541Arg) c.1840T>A (p.Trp614Arg) | |
10 | g.110812402T>C | CA378370855 | RBM20 | c.2005T>C (p.Trp669Arg) c.1621T>C (p.Trp541Arg) c.1840T>C (p.Trp614Arg) | |
10 | g.110812402T>G | CA378370859 | RBM20 | c.2005T>G (p.Trp669Gly) c.1621T>G (p.Trp541Gly) c.1840T>G (p.Trp614Gly) | |
10 | g.110812403G>A | CA378370867 | RBM20 | c.2006G>A (p.Trp669Ter) c.1622G>A (p.Trp541Ter) c.1841G>A (p.Trp614Ter) | COSMIC |
10 | g.110812403G>C | CA378370863 | RBM20 | c.2006G>C (p.Trp669Ser) c.1622G>C (p.Trp541Ser) c.1841G>C (p.Trp614Ser) | |
10 | g.110812403G>T | CA378370861 | RBM20 | c.2006G>T (p.Trp669Leu) c.1622G>T (p.Trp541Leu) c.1841G>T (p.Trp614Leu) | |
10 | g.110812404G>A | CA378370870 | RBM20 | c.2007G>A (p.Trp669Ter) c.1623G>A (p.Trp541Ter) c.1842G>A (p.Trp614Ter) | |
10 | g.110812404G>C | CA378370871 | RBM20 | c.2007G>C (p.Trp669Cys) c.1623G>C (p.Trp541Cys) c.1842G>C (p.Trp614Cys) | gnomAD v4 |
10 | g.110812404G>T | CA378370873 | RBM20 | c.2007G>T (p.Trp669Cys) c.1623G>T (p.Trp541Cys) c.1842G>T (p.Trp614Cys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812405G>A | CA378370876 | RBM20 | c.2008G>A (p.Gly670Ser) c.1624G>A (p.Gly542Ser) c.1843G>A (p.Gly615Ser) | |
10 | g.110812405G>C | CA378370878 | RBM20 | c.2008G>C (p.Gly670Arg) c.1624G>C (p.Gly542Arg) c.1843G>C (p.Gly615Arg) | gnomAD v4 |
10 | g.110812405G>T | CA378370880 | RBM20 | c.2008G>T (p.Gly670Cys) c.1624G>T (p.Gly542Cys) c.1843G>T (p.Gly615Cys) | |
10 | g.110812406G>A | CA378370882 | RBM20 | c.2009G>A (p.Gly670Asp) c.1625G>A (p.Gly542Asp) c.1844G>A (p.Gly615Asp) | ClinVar dbSNP gnomAD v4 |
10 | g.110812406G>C | CA378370886 | RBM20 | c.2009G>C (p.Gly670Ala) c.1625G>C (p.Gly542Ala) c.1844G>C (p.Gly615Ala) | |
10 | g.110812406G>T | CA378370884 | RBM20 | c.2009G>T (p.Gly670Val) c.1625G>T (p.Gly542Val) c.1844G>T (p.Gly615Val) | gnomAD v4 |
10 | g.110812407C>A | CA471368114 | RBM20 | c.2010C>A (p.Gly670=) c.1626C>A (p.Gly542=) c.1845C>A (p.Gly615=) | |
10 | g.110812407C>G | CA471368116 | RBM20 | c.2010C>G (p.Gly670=) c.1626C>G (p.Gly542=) c.1845C>G (p.Gly615=) | |
10 | g.110812407C>T | CA471368115 | RBM20 | c.2010C>T (p.Gly670=) c.1626C>T (p.Gly542=) c.1845C>T (p.Gly615=) | |
10 | g.110812408A>C | CA378370890 | RBM20 | c.2011A>C (p.Asn671His) c.1627A>C (p.Asn543His) c.1846A>C (p.Asn616His) | |
10 | g.110812408A>G | CA378370894 | RBM20 | c.2011A>G (p.Asn671Asp) c.1627A>G (p.Asn543Asp) c.1846A>G (p.Asn616Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812408A>T | CA378370896 | RBM20 | c.2011A>T (p.Asn671Tyr) c.1627A>T (p.Asn543Tyr) c.1846A>T (p.Asn616Tyr) | |
10 | g.110812409A>C | CA378370900 | RBM20 | c.2012A>C (p.Asn671Thr) c.1628A>C (p.Asn543Thr) c.1847A>C (p.Asn616Thr) | |
10 | g.110812409A>G | CA378370902 | RBM20 | c.2012A>G (p.Asn671Ser) c.1628A>G (p.Asn543Ser) c.1847A>G (p.Asn616Ser) | gnomAD v4 |
10 | g.110812409A>T | CA378370907 | RBM20 | c.2012A>T (p.Asn671Ile) c.1628A>T (p.Asn543Ile) c.1847A>T (p.Asn616Ile) | |
10 | g.110812410T>A | CA378370908 | RBM20 | c.2013T>A (p.Asn671Lys) c.1629T>A (p.Asn543Lys) c.1848T>A (p.Asn616Lys) | |
10 | g.110812410T>C | CA471368117 | RBM20 | c.2013T>C (p.Asn671=) c.1629T>C (p.Asn543=) c.1848T>C (p.Asn616=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812410T>G | CA378370910 | RBM20 | c.2013T>G (p.Asn671Lys) c.1629T>G (p.Asn543Lys) c.1848T>G (p.Asn616Lys) | |
10 | g.110812411G>A | CA335553 | RBM20 | c.2014G>A (p.Gly672Ser) c.1630G>A (p.Gly544Ser) c.1849G>A (p.Gly617Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812411G>C | CA378370915 | RBM20 | c.2014G>C (p.Gly672Arg) c.1630G>C (p.Gly544Arg) c.1849G>C (p.Gly617Arg) | gnomAD v4 |
10 | g.110812411G>T | CA378370918 | RBM20 | c.2014G>T (p.Gly672Cys) c.1630G>T (p.Gly544Cys) c.1849G>T (p.Gly617Cys) | |
10 | g.110812412dup | CA596112341 | RBM20 | c.2015dup (p.Arg673ProfsTer27) c.1631dup (p.Arg545ProfsTer27) c.1850dup (p.Arg618ProfsTer27) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812412G>A | CA378370919 | RBM20 | c.2015G>A (p.Gly672Asp) c.1631G>A (p.Gly544Asp) c.1850G>A (p.Gly617Asp) | |
10 | g.110812412G>C | CA378370921 | RBM20 | c.2015G>C (p.Gly672Ala) c.1631G>C (p.Gly544Ala) c.1850G>C (p.Gly617Ala) | |
10 | g.110812412G>T | CA378370920 | RBM20 | c.2015G>T (p.Gly672Val) c.1631G>T (p.Gly544Val) c.1850G>T (p.Gly617Val) | |
10 | g.110812413C>A | CA471368118 | RBM20 | c.2016C>A (p.Gly672=) c.1632C>A (p.Gly544=) c.1851C>A (p.Gly617=) | |
10 | g.110812413C>G | CA471368119 | RBM20 | c.2016C>G (p.Gly672=) c.1632C>G (p.Gly544=) c.1851C>G (p.Gly617=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812413C>T | CA213223684 | RBM20 | c.2016C>T (p.Gly672=) c.1632C>T (p.Gly544=) c.1851C>T (p.Gly617=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812414C>A | CA471368120 | RBM20 | c.2017C>A (p.Arg673=) c.1633C>A (p.Arg545=) c.1852C>A (p.Arg618=) | ClinVar |
10 | g.110812414C>G | CA378370928 | RBM20 | c.2017C>G (p.Arg673Gly) c.1633C>G (p.Arg545Gly) c.1852C>G (p.Arg618Gly) | |
10 | g.110812414C>T | CA133298 | RBM20 | c.2017C>T (p.Arg673Trp) c.1633C>T (p.Arg545Trp) c.1852C>T (p.Arg618Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812415G>A | CA5688662 | RBM20 | c.2018G>A (p.Arg673Gln) c.1634G>A (p.Arg545Gln) c.1853G>A (p.Arg618Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.110812415G>C | CA378370942 | RBM20 | c.2018G>C (p.Arg673Pro) c.1634G>C (p.Arg545Pro) c.1853G>C (p.Arg618Pro) | |
10 | g.110812415G>T | CA378370944 | RBM20 | c.2018G>T (p.Arg673Leu) c.1634G>T (p.Arg545Leu) c.1853G>T (p.Arg618Leu) | |
10 | g.110812416G>A | CA471368121 | RBM20 | c.2019G>A (p.Arg673=) c.1635G>A (p.Arg545=) c.1854G>A (p.Arg618=) | |
10 | g.110812416G>C | CA471368122 | RBM20 | c.2019G>C (p.Arg673=) c.1635G>C (p.Arg545=) c.1854G>C (p.Arg618=) | |
10 | g.110812416G>T | CA471368123 | RBM20 | c.2019G>T (p.Arg673=) c.1635G>T (p.Arg545=) c.1854G>T (p.Arg618=) | ClinVar dbSNP |
10 | g.110812417G>A | CA378370950 | RBM20 | c.2020G>A (p.Asp674Asn) c.1636G>A (p.Asp546Asn) c.1855G>A (p.Asp619Asn) | |
10 | g.110812417G>C | CA378370946 | RBM20 | c.2020G>C (p.Asp674His) c.1636G>C (p.Asp546His) c.1855G>C (p.Asp619His) | |
10 | g.110812417G>T | CA378370948 | RBM20 | c.2020G>T (p.Asp674Tyr) c.1636G>T (p.Asp546Tyr) c.1855G>T (p.Asp619Tyr) | COSMIC |
10 | g.110812418A>C | CA378370954 | RBM20 | c.2021A>C (p.Asp674Ala) c.1637A>C (p.Asp546Ala) c.1856A>C (p.Asp619Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812418A>G | CA378370960 | RBM20 | c.2021A>G (p.Asp674Gly) c.1637A>G (p.Asp546Gly) c.1856A>G (p.Asp619Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812418A>T | CA378370963 | RBM20 | c.2021A>T (p.Asp674Val) c.1637A>T (p.Asp546Val) c.1856A>T (p.Asp619Val) | |
10 | g.110812419C>A | CA378370966 | RBM20 | c.2022C>A (p.Asp674Glu) c.1638C>A (p.Asp546Glu) c.1857C>A (p.Asp619Glu) | |
10 | g.110812419C>G | CA378370968 | RBM20 | c.2022C>G (p.Asp674Glu) c.1638C>G (p.Asp546Glu) c.1857C>G (p.Asp619Glu) | |
10 | g.110812419C>T | CA471368124 | RBM20 | c.2022C>T (p.Asp674=) c.1638C>T (p.Asp546=) c.1857C>T (p.Asp619=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812420T>A | CA378370978 | RBM20 | c.2023T>A (p.Ser675Thr) c.1639T>A (p.Ser547Thr) c.1858T>A (p.Ser620Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812420T>C | CA378370971 | RBM20 | c.2023T>C (p.Ser675Pro) c.1639T>C (p.Ser547Pro) c.1858T>C (p.Ser620Pro) | |
10 | g.110812420T>G | CA378370974 | RBM20 | c.2023T>G (p.Ser675Ala) c.1639T>G (p.Ser547Ala) c.1858T>G (p.Ser620Ala) | |
10 | g.110812421C>A | CA378370983 | RBM20 | c.2024C>A (p.Ser675Tyr) c.1640C>A (p.Ser547Tyr) c.1859C>A (p.Ser620Tyr) | |
10 | g.110812421C>G | CA378370984 | RBM20 | c.2024C>G (p.Ser675Cys) c.1640C>G (p.Ser547Cys) c.1859C>G (p.Ser620Cys) | |
10 | g.110812421C>T | CA378370986 | RBM20 | c.2024C>T (p.Ser675Phe) c.1640C>T (p.Ser547Phe) c.1859C>T (p.Ser620Phe) | ClinVar dbSNP |
10 | g.110812422C>A | CA471368125 | RBM20 | c.2025C>A (p.Ser675=) c.1641C>A (p.Ser547=) c.1860C>A (p.Ser620=) | |
10 | g.110812422C>G | CA471368126 | RBM20 | c.2025C>G (p.Ser675=) c.1641C>G (p.Ser547=) c.1860C>G (p.Ser620=) | |
10 | g.110812422C>T | CA471368127 | RBM20 | c.2025C>T (p.Ser675=) c.1641C>T (p.Ser547=) c.1860C>T (p.Ser620=) | |
10 | g.110812423del | CA596112342 | RBM20 | c.2026del (p.Trp676GlyfsTer?) c.1642del (p.Trp548GlyfsTer?) c.1861del (p.Trp621GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812423T>A | CA378370988 | RBM20 | c.2026T>A (p.Trp676Arg) c.1642T>A (p.Trp548Arg) c.1861T>A (p.Trp621Arg) | |
10 | g.110812423T>C | CA378370990 | RBM20 | c.2026T>C (p.Trp676Arg) c.1642T>C (p.Trp548Arg) c.1861T>C (p.Trp621Arg) | |
10 | g.110812423T>G | CA378370993 | RBM20 | c.2026T>G (p.Trp676Gly) c.1642T>G (p.Trp548Gly) c.1861T>G (p.Trp621Gly) | |
10 | g.110812424G>A | CA378370996 | RBM20 | c.2027G>A (p.Trp676Ter) c.1643G>A (p.Trp548Ter) c.1862G>A (p.Trp621Ter) | |
10 | g.110812424G>C | CA378370999 | RBM20 | c.2027G>C (p.Trp676Ser) c.1643G>C (p.Trp548Ser) c.1862G>C (p.Trp621Ser) | |
10 | g.110812424G>T | CA378371002 | RBM20 | c.2027G>T (p.Trp676Leu) c.1643G>T (p.Trp548Leu) c.1862G>T (p.Trp621Leu) | |
10 | g.110812425G>A | CA378371004 | RBM20 | c.2028G>A (p.Trp676Ter) c.1644G>A (p.Trp548Ter) c.1863G>A (p.Trp621Ter) | |
10 | g.110812425G>C | CA378371008 | RBM20 | c.2028G>C (p.Trp676Cys) c.1644G>C (p.Trp548Cys) c.1863G>C (p.Trp621Cys) | |
10 | g.110812425G>T | CA378371012 | RBM20 | c.2028G>T (p.Trp676Cys) c.1644G>T (p.Trp548Cys) c.1863G>T (p.Trp621Cys) | |
10 | g.110812426G>A | CA378371014 | RBM20 | c.2029G>A (p.Glu677Lys) c.1645G>A (p.Glu549Lys) c.1864G>A (p.Glu622Lys) | |
10 | g.110812426G>C | CA378371023 | RBM20 | c.2029G>C (p.Glu677Gln) c.1645G>C (p.Glu549Gln) c.1864G>C (p.Glu622Gln) | |
10 | g.110812426G>T | CA378371016 | RBM20 | c.2029G>T (p.Glu677Ter) c.1645G>T (p.Glu549Ter) c.1864G>T (p.Glu622Ter) | |
10 | g.110812427A>C | CA378371025 | RBM20 | c.2030A>C (p.Glu677Ala) c.1646A>C (p.Glu549Ala) c.1865A>C (p.Glu622Ala) | gnomAD v4 |
10 | g.110812427A>G | CA378371026 | RBM20 | c.2030A>G (p.Glu677Gly) c.1646A>G (p.Glu549Gly) c.1865A>G (p.Glu622Gly) | dbSNP gnomAD v4 |
10 | g.110812427A>T | CA378371029 | RBM20 | c.2030A>T (p.Glu677Val) c.1646A>T (p.Glu549Val) c.1865A>T (p.Glu622Val) | |
10 | g.110812428G>A | CA471368128 | RBM20 | c.2031G>A (p.Glu677=) c.1647G>A (p.Glu549=) c.1866G>A (p.Glu622=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812428G>C | CA378371034 | RBM20 | c.2031G>C (p.Glu677Asp) c.1647G>C (p.Glu549Asp) c.1866G>C (p.Glu622Asp) | |
10 | g.110812428G>T | CA378371037 | RBM20 | c.2031G>T (p.Glu677Asp) c.1647G>T (p.Glu549Asp) c.1866G>T (p.Glu622Asp) | ClinVar |
10 | g.110812429C>A | CA378371040 | RBM20 | c.2032C>A (p.His678Asn) c.1648C>A (p.His550Asn) c.1867C>A (p.His623Asn) | |
10 | g.110812429C>G | CA378371041 | RBM20 | c.2032C>G (p.His678Asp) c.1648C>G (p.His550Asp) c.1867C>G (p.His623Asp) | |
10 | g.110812429C>T | CA378371042 | RBM20 | c.2032C>T (p.His678Tyr) c.1648C>T (p.His550Tyr) c.1867C>T (p.His623Tyr) | gnomAD v4 |
10 | g.110812430A>C | CA378371044 | RBM20 | c.2033A>C (p.His678Pro) c.1649A>C (p.His550Pro) c.1868A>C (p.His623Pro) | |
10 | g.110812430A>G | CA378371045 | RBM20 | c.2033A>G (p.His678Arg) c.1649A>G (p.His550Arg) c.1868A>G (p.His623Arg) | |
10 | g.110812430A>T | CA378371046 | RBM20 | c.2033A>T (p.His678Leu) c.1649A>T (p.His550Leu) c.1868A>T (p.His623Leu) | |
10 | g.110812430dup | CA2573053236 | RBM20 | c.2033dup (p.His678GlnfsTer22) c.1649dup (p.His550GlnfsTer22) c.1868dup (p.His623GlnfsTer22) | ClinVar dbSNP |
10 | g.110812431C>A | CA378371047 | RBM20 | c.2034C>A (p.His678Gln) c.1650C>A (p.His550Gln) c.1869C>A (p.His623Gln) | dbSNP |
10 | g.110812431C>G | CA378371048 | RBM20 | c.2034C>G (p.His678Gln) c.1650C>G (p.His550Gln) c.1869C>G (p.His623Gln) | dbSNP |
10 | g.110812431C>T | CA471368129 | RBM20 | c.2034C>T (p.His678=) c.1650C>T (p.His550=) c.1869C>T (p.His623=) | |
10 | g.110812432T>A | CA378371050 | RBM20 | c.2035T>A (p.Ser679Thr) c.1651T>A (p.Ser551Thr) c.1870T>A (p.Ser624Thr) | |
10 | g.110812432T>C | CA378371053 | RBM20 | c.2035T>C (p.Ser679Pro) c.1651T>C (p.Ser551Pro) c.1870T>C (p.Ser624Pro) | |
10 | g.110812432T>G | CA378371052 | RBM20 | c.2035T>G (p.Ser679Ala) c.1651T>G (p.Ser551Ala) c.1870T>G (p.Ser624Ala) | |
10 | g.110812433C>A | CA378371056 | RBM20 | c.2036C>A (p.Ser679Tyr) c.1652C>A (p.Ser551Tyr) c.1871C>A (p.Ser624Tyr) | |
10 | g.110812433C>G | CA378371061 | RBM20 | c.2036C>G (p.Ser679Cys) c.1652C>G (p.Ser551Cys) c.1871C>G (p.Ser624Cys) | |
10 | g.110812433C>T | CA378371063 | RBM20 | c.2036C>T (p.Ser679Phe) c.1652C>T (p.Ser551Phe) c.1871C>T (p.Ser624Phe) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812434T>A | CA471368131 | RBM20 | c.2037T>A (p.Ser679=) c.1653T>A (p.Ser551=) c.1872T>A (p.Ser624=) | |
10 | g.110812434T>C | CA471368133 | RBM20 | c.2037T>C (p.Ser679=) c.1653T>C (p.Ser551=) c.1872T>C (p.Ser624=) | |
10 | g.110812434T>G | CA471368132 | RBM20 | c.2037T>G (p.Ser679=) c.1653T>G (p.Ser551=) c.1872T>G (p.Ser624=) | |
10 | g.110812435C>A | CA378371066 | RBM20 | c.2038C>A (p.Pro680Thr) c.1654C>A (p.Pro552Thr) c.1873C>A (p.Pro625Thr) | |
10 | g.110812435C>G | CA378371068 | RBM20 | c.2038C>G (p.Pro680Ala) c.1654C>G (p.Pro552Ala) c.1873C>G (p.Pro625Ala) | |
10 | g.110812435C>T | CA378371071 | RBM20 | c.2038C>T (p.Pro680Ser) c.1654C>T (p.Pro552Ser) c.1873C>T (p.Pro625Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812436C>A | CA378371073 | RBM20 | c.2039C>A (p.Pro680His) c.1655C>A (p.Pro552His) c.1874C>A (p.Pro625His) | |
10 | g.110812436C>G | CA378371076 | RBM20 | c.2039C>G (p.Pro680Arg) c.1655C>G (p.Pro552Arg) c.1874C>G (p.Pro625Arg) | |
10 | g.110812436C>T | CA378371079 | RBM20 | c.2039C>T (p.Pro680Leu) c.1655C>T (p.Pro552Leu) c.1874C>T (p.Pro625Leu) | |
10 | g.110812437C>A | CA471368134 | RBM20 | c.2040C>A (p.Pro680=) c.1656C>A (p.Pro552=) c.1875C>A (p.Pro625=) | |
10 | g.110812437C>G | CA471368135 | RBM20 | c.2040C>G (p.Pro680=) c.1656C>G (p.Pro552=) c.1875C>G (p.Pro625=) | |
10 | g.110812437C>T | CA213223715 | RBM20 | c.2040C>T (p.Pro680=) c.1656C>T (p.Pro552=) c.1875C>T (p.Pro625=) | dbSNP |
10 | g.110812438T>A | CA378371091 | RBM20 | c.2041T>A (p.Tyr681Asn) c.1657T>A (p.Tyr553Asn) c.1876T>A (p.Tyr626Asn) | |
10 | g.110812438T>C | CA378371090 | RBM20 | c.2041T>C (p.Tyr681His) c.1657T>C (p.Tyr553His) c.1876T>C (p.Tyr626His) | ClinVar dbSNP gnomAD v4 |
10 | g.110812438T>G | CA378371088 | RBM20 | c.2041T>G (p.Tyr681Asp) c.1657T>G (p.Tyr553Asp) c.1876T>G (p.Tyr626Asp) | |
10 | g.110812439del | CA2739276021 | RBM20 | c.2042del (p.Tyr681LeufsTer?) c.1658del (p.Tyr553LeufsTer?) c.1877del (p.Tyr626LeufsTer?) | ClinVar |
10 | g.110812439A>C | CA378371093 | RBM20 | c.2042A>C (p.Tyr681Ser) c.1658A>C (p.Tyr553Ser) c.1877A>C (p.Tyr626Ser) | |
10 | g.110812439A>G | CA5688663 | RBM20 | c.2042A>G (p.Tyr681Cys) c.1658A>G (p.Tyr553Cys) c.1877A>G (p.Tyr626Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812439A>T | CA378371096 | RBM20 | c.2042A>T (p.Tyr681Phe) c.1658A>T (p.Tyr553Phe) c.1877A>T (p.Tyr626Phe) | |
10 | g.110812440T>A | CA378371110 | RBM20 | c.2043T>A (p.Tyr681Ter) c.1659T>A (p.Tyr553Ter) c.1878T>A (p.Tyr626Ter) | ClinVar dbSNP |
10 | g.110812440T>C | CA5688664 | RBM20 | c.2043T>C (p.Tyr681=) c.1659T>C (p.Tyr553=) c.1878T>C (p.Tyr626=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812440T>G | CA378371112 | RBM20 | c.2043T>G (p.Tyr681Ter) c.1659T>G (p.Tyr553Ter) c.1878T>G (p.Tyr626Ter) | |
10 | g.110812441G>A | CA378371113 | RBM20 | c.2044G>A (p.Ala682Thr) c.1660G>A (p.Ala554Thr) c.1879G>A (p.Ala627Thr) | gnomAD v4 |
10 | g.110812441G>C | CA378371114 | RBM20 | c.2044G>C (p.Ala682Pro) c.1660G>C (p.Ala554Pro) c.1879G>C (p.Ala627Pro) | dbSNP |
10 | g.110812441G>T | CA378371116 | RBM20 | c.2044G>T (p.Ala682Ser) c.1660G>T (p.Ala554Ser) c.1879G>T (p.Ala627Ser) | |
10 | g.110812442C>A | CA378371119 | RBM20 | c.2045C>A (p.Ala682Asp) c.1661C>A (p.Ala554Asp) c.1880C>A (p.Ala627Asp) | |
10 | g.110812442C>G | CA378371121 | RBM20 | c.2045C>G (p.Ala682Gly) c.1661C>G (p.Ala554Gly) c.1880C>G (p.Ala627Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812442C>T | CA378371127 | RBM20 | c.2045C>T (p.Ala682Val) c.1661C>T (p.Ala554Val) c.1880C>T (p.Ala627Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812443C>A | CA471506815 | RBM20 | c.2046C>A (p.Ala682=) c.1662C>A (p.Ala554=) c.1881C>A (p.Ala627=) | |
10 | g.110812443C>G | CA471506817 | RBM20 | c.2046C>G (p.Ala682=) c.1662C>G (p.Ala554=) c.1881C>G (p.Ala627=) | gnomAD v4 |
10 | g.110812443C>T | CA213223726 | RBM20 | c.2046C>T (p.Ala682=) c.1662C>T (p.Ala554=) c.1881C>T (p.Ala627=) | ClinVar dbSNP gnomAD v4 |
10 | g.110812444A>C | CA471506818 | RBM20 | c.2047A>C (p.Arg683=) c.1663A>C (p.Arg555=) c.1882A>C (p.Arg628=) | |
10 | g.110812444A>G | CA378371132 | RBM20 | c.2047A>G (p.Arg683Gly) c.1663A>G (p.Arg555Gly) c.1882A>G (p.Arg628Gly) | ClinVar dbSNP gnomAD v4 |
10 | g.110812444A>T | CA378371139 | RBM20 | c.2047A>T (p.Arg683Trp) c.1663A>T (p.Arg555Trp) c.1882A>T (p.Arg628Trp) | |
10 | g.110812445G>A | CA378371142 | RBM20 | c.2048G>A (p.Arg683Lys) c.1664G>A (p.Arg555Lys) c.1883G>A (p.Arg628Lys) | gnomAD v4 |
10 | g.110812445G>C | CA378371150 | RBM20 | c.2048G>C (p.Arg683Thr) c.1664G>C (p.Arg555Thr) c.1883G>C (p.Arg628Thr) | |
10 | g.110812445G>T | CA378371152 | RBM20 | c.2048G>T (p.Arg683Met) c.1664G>T (p.Arg555Met) c.1883G>T (p.Arg628Met) | |
10 | g.110812450_110812453del | CA2697558788 | RBM20 | c.2053_2056del (p.Glu685LysfsTer?) c.1669_1672del (p.Glu557LysfsTer?) c.1888_1891del (p.Glu630LysfsTer?) | ClinVar |
10 | g.110812446G>A | CA471506821 | RBM20 | c.2049G>A (p.Arg683=) c.1665G>A (p.Arg555=) c.1884G>A (p.Arg628=) | |
10 | g.110812446G>C | CA378371156 | RBM20 | c.2049G>C (p.Arg683Ser) c.1665G>C (p.Arg555Ser) c.1884G>C (p.Arg628Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110812446G>T | CA378371158 | RBM20 | c.2049G>T (p.Arg683Ser) c.1665G>T (p.Arg555Ser) c.1884G>T (p.Arg628Ser) | |
10 | g.110812447A>C | CA471506823 | RBM20 | c.2050A>C (p.Arg684=) c.1666A>C (p.Arg556=) c.1885A>C (p.Arg629=) | |
10 | g.110812447A>G | CA378371159 | RBM20 | c.2050A>G (p.Arg684Gly) c.1666A>G (p.Arg556Gly) c.1885A>G (p.Arg629Gly) | |
10 | g.110812447A>T | CA378371162 | RBM20 | c.2050A>T (p.Arg684Trp) c.1666A>T (p.Arg556Trp) c.1885A>T (p.Arg629Trp) | |
10 | g.110812448G>A | CA213223735 | RBM20 | c.2051G>A (p.Arg684Lys) c.1667G>A (p.Arg556Lys) c.1886G>A (p.Arg629Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812448G>C | CA378371163 | RBM20 | c.2051G>C (p.Arg684Thr) c.1667G>C (p.Arg556Thr) c.1886G>C (p.Arg629Thr) | |
10 | g.110812448G>T | CA378371165 | RBM20 | c.2051G>T (p.Arg684Met) c.1667G>T (p.Arg556Met) c.1886G>T (p.Arg629Met) | ClinVar |
10 | g.110812449G>A | CA471506828 | RBM20 | c.2052G>A (p.Arg684=) c.1668G>A (p.Arg556=) c.1887G>A (p.Arg629=) | |
10 | g.110812449G>C | CA378371166 | RBM20 | c.2052G>C (p.Arg684Ser) c.1668G>C (p.Arg556Ser) c.1887G>C (p.Arg629Ser) | COSMIC |
10 | g.110812449G>T | CA378371168 | RBM20 | c.2052G>T (p.Arg684Ser) c.1668G>T (p.Arg556Ser) c.1887G>T (p.Arg629Ser) | |
10 | g.110812450G>A | CA378371171 | RBM20 | c.2053G>A (p.Glu685Lys) c.1669G>A (p.Glu557Lys) c.1888G>A (p.Glu630Lys) | |
10 | g.110812450G>C | CA378371178 | RBM20 | c.2053G>C (p.Glu685Gln) c.1669G>C (p.Glu557Gln) c.1888G>C (p.Glu630Gln) | |
10 | g.110812450G>T | CA378371187 | RBM20 | c.2053G>T (p.Glu685Ter) c.1669G>T (p.Glu557Ter) c.1888G>T (p.Glu630Ter) | |
10 | g.110812451A>C | CA378371189 | RBM20 | c.2054A>C (p.Glu685Ala) c.1670A>C (p.Glu557Ala) c.1889A>C (p.Glu630Ala) | gnomAD v4 |
10 | g.110812451A>G | CA378371190 | RBM20 | c.2054A>G (p.Glu685Gly) c.1670A>G (p.Glu557Gly) c.1889A>G (p.Glu630Gly) | |
10 | g.110812451A>T | CA378371188 | RBM20 | c.2054A>T (p.Glu685Val) c.1670A>T (p.Glu557Val) c.1889A>T (p.Glu630Val) | |
10 | g.110812452G>A | CA471506829 | RBM20 | c.2055G>A (p.Glu685=) c.1671G>A (p.Glu557=) c.1890G>A (p.Glu630=) | gnomAD v4 |
10 | g.110812452G>C | CA378371195 | RBM20 | c.2055G>C (p.Glu685Asp) c.1671G>C (p.Glu557Asp) c.1890G>C (p.Glu630Asp) | |
10 | g.110812452G>T | CA378371198 | RBM20 | c.2055G>T (p.Glu685Asp) c.1671G>T (p.Glu557Asp) c.1890G>T (p.Glu630Asp) | |
10 | g.110812453G>A | CA378371199 | RBM20 | c.2056G>A (p.Glu686Lys) c.1672G>A (p.Glu558Lys) c.1891G>A (p.Glu631Lys) | gnomAD v4 |
10 | g.110812453G>C | CA378371201 | RBM20 | c.2056G>C (p.Glu686Gln) c.1672G>C (p.Glu558Gln) c.1891G>C (p.Glu631Gln) | |
10 | g.110812453G>T | CA378371204 | RBM20 | c.2056G>T (p.Glu686Ter) c.1672G>T (p.Glu558Ter) c.1891G>T (p.Glu631Ter) | |
10 | g.110812454A>C | CA378371205 | RBM20 | c.2057A>C (p.Glu686Ala) c.1673A>C (p.Glu558Ala) c.1892A>C (p.Glu631Ala) | |
10 | g.110812454A>G | CA378371206 | RBM20 | c.2057A>G (p.Glu686Gly) c.1673A>G (p.Glu558Gly) c.1892A>G (p.Glu631Gly) | |
10 | g.110812454A>T | CA378371207 | RBM20 | c.2057A>T (p.Glu686Val) c.1673A>T (p.Glu558Val) c.1892A>T (p.Glu631Val) | |
10 | g.110812455A>C | CA378371208 | RBM20 | c.2058A>C (p.Glu686Asp) c.1674A>C (p.Glu558Asp) c.1893A>C (p.Glu631Asp) | |
10 | g.110812455A>G | CA471506835 | RBM20 | c.2058A>G (p.Glu686=) c.1674A>G (p.Glu558=) c.1893A>G (p.Glu631=) | dbSNP gnomAD v4 |
10 | g.110812455A>T | CA378371209 | RBM20 | c.2058A>T (p.Glu686Asp) c.1674A>T (p.Glu558Asp) c.1893A>T (p.Glu631Asp) | |
10 | g.110812456G>A | CA378371216 | RBM20 | c.2059G>A (p.Glu687Lys) c.1675G>A (p.Glu559Lys) c.1894G>A (p.Glu632Lys) | |
10 | g.110812456G>C | CA378371219 | RBM20 | c.2059G>C (p.Glu687Gln) c.1675G>C (p.Glu559Gln) c.1894G>C (p.Glu632Gln) | |
10 | g.110812456G>T | CA378371225 | RBM20 | c.2059G>T (p.Glu687Ter) c.1675G>T (p.Glu559Ter) c.1894G>T (p.Glu632Ter) | |
10 | g.110812457del | CA2697558789 | RBM20 | c.2060del (p.Glu687GlyfsTer?) c.1676del (p.Glu559GlyfsTer?) c.1895del (p.Glu632GlyfsTer?) | ClinVar |
10 | g.110812457A>C | CA378371233 | RBM20 | c.2060A>C (p.Glu687Ala) c.1676A>C (p.Glu559Ala) c.1895A>C (p.Glu632Ala) | |
10 | g.110812457A>G | CA213223742 | RBM20 | c.2060A>G (p.Glu687Gly) c.1676A>G (p.Glu559Gly) c.1895A>G (p.Glu632Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110812457A>T | CA378371227 | RBM20 | c.2060A>T (p.Glu687Val) c.1676A>T (p.Glu559Val) c.1895A>T (p.Glu632Val) | |
10 | g.110812458G>A | CA471506839 | RBM20 | c.2061G>A (p.Glu687=) c.1677G>A (p.Glu559=) c.1896G>A (p.Glu632=) | ClinVar dbSNP |
10 | g.110812458G>C | CA378371234 | RBM20 | c.2061G>C (p.Glu687Asp) c.1677G>C (p.Glu559Asp) c.1896G>C (p.Glu632Asp) | |
10 | g.110812458G>T | CA378371237 | RBM20 | c.2061G>T (p.Glu687Asp) c.1677G>T (p.Glu559Asp) c.1896G>T (p.Glu632Asp) | |
10 | g.110812459C>A | CA471506842 | RBM20 | c.2062C>A (p.Arg688=) c.1678C>A (p.Arg560=) c.1897C>A (p.Arg633=) | |
10 | g.110812459C>G | CA378371240 | RBM20 | c.2062C>G (p.Arg688Gly) c.1678C>G (p.Arg560Gly) c.1897C>G (p.Arg633Gly) | |
10 | g.110812459C>T | CA335555 | RBM20 | c.2062C>T (p.Arg688Ter) c.1678C>T (p.Arg560Ter) c.1897C>T (p.Arg633Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812460G>A | CA5688665 | RBM20 | c.2063G>A (p.Arg688Gln) c.1679G>A (p.Arg560Gln) c.1898G>A (p.Arg633Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110812460G>C | CA378371250 | RBM20 | c.2063G>C (p.Arg688Pro) c.1679G>C (p.Arg560Pro) c.1898G>C (p.Arg633Pro) | |
10 | g.110812460G>T | CA378371251 | RBM20 | c.2063G>T (p.Arg688Leu) c.1679G>T (p.Arg560Leu) c.1898G>T (p.Arg633Leu) | |
10 | g.110812461A>C | CA471506844 | RBM20 | c.2064A>C (p.Arg688=) c.1680A>C (p.Arg560=) c.1899A>C (p.Arg633=) | |
10 | g.110812461A>G | CA471506846 | RBM20 | c.2064A>G (p.Arg688=) c.1680A>G (p.Arg560=) c.1899A>G (p.Arg633=) | |
10 | g.110812461A>T | CA471506850 | RBM20 | c.2064A>T (p.Arg688=) c.1680A>T (p.Arg560=) c.1899A>T (p.Arg633=) | |
10 | g.110812462G>A | CA378371252 | RBM20 | c.2065G>A (p.Asp689Asn) c.1681G>A (p.Asp561Asn) c.1900G>A (p.Asp634Asn) | ClinVar dbSNP |
10 | g.110812462G>C | CA378371253 | RBM20 | c.2065G>C (p.Asp689His) c.1681G>C (p.Asp561His) c.1900G>C (p.Asp634His) | |
10 | g.110812462G>T | CA378371256 | RBM20 | c.2065G>T (p.Asp689Tyr) c.1681G>T (p.Asp561Tyr) c.1900G>T (p.Asp634Tyr) | |
10 | g.110812463A>C | CA378371265 | RBM20 | c.2066A>C (p.Asp689Ala) c.1682A>C (p.Asp561Ala) c.1901A>C (p.Asp634Ala) | |
10 | g.110812463A>G | CA378371268 | RBM20 | c.2066A>G (p.Asp689Gly) c.1682A>G (p.Asp561Gly) c.1901A>G (p.Asp634Gly) | |
10 | g.110812463A>T | CA378371274 | RBM20 | c.2066A>T (p.Asp689Val) c.1682A>T (p.Asp561Val) c.1901A>T (p.Asp634Val) | gnomAD v4 |
10 | g.110812464C>A | CA378371276 | RBM20 | c.2067C>A (p.Asp689Glu) c.1683C>A (p.Asp561Glu) c.1902C>A (p.Asp634Glu) | ClinVar |
10 | g.110812464C>G | CA378371279 | RBM20 | c.2067C>G (p.Asp689Glu) c.1683C>G (p.Asp561Glu) c.1902C>G (p.Asp634Glu) | |
10 | g.110812464C>T | CA471506857 | RBM20 | c.2067C>T (p.Asp689=) c.1683C>T (p.Asp561=) c.1902C>T (p.Asp634=) | gnomAD v4 |
10 | g.110812465C>A | CA378371289 | RBM20 | c.2068C>A (p.Pro690Thr) c.1684C>A (p.Pro562Thr) c.1903C>A (p.Pro635Thr) | gnomAD v4 |
10 | g.110812465C>G | CA378371296 | RBM20 | c.2068C>G (p.Pro690Ala) c.1684C>G (p.Pro562Ala) c.1903C>G (p.Pro635Ala) | |
10 | g.110812465C>T | CA378371293 | RBM20 | c.2068C>T (p.Pro690Ser) c.1684C>T (p.Pro562Ser) c.1903C>T (p.Pro635Ser) | dbSNP gnomAD v4 |