Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.110812515C>ACA471506999RBM20c.2118C>A (p.Pro706=)
c.1734C>A (p.Pro578=)
c.1953C>A (p.Pro651=)
10g.110812515C>GCA471507000RBM20c.2118C>G (p.Pro706=)
c.1734C>G (p.Pro578=)
c.1953C>G (p.Pro651=)
10g.110812515C>TCA471507001RBM20c.2118C>T (p.Pro706=)
c.1734C>T (p.Pro578=)
c.1953C>T (p.Pro651=)
ClinVar dbSNP
10g.110812516T>ACA378371941RBM20c.2119T>A (p.Trp707Arg)
c.1735T>A (p.Trp579Arg)
c.1954T>A (p.Trp652Arg)
ClinVar dbSNP gnomAD v4
10g.110812516T>CCA378371945RBM20c.2119T>C (p.Trp707Arg)
c.1735T>C (p.Trp579Arg)
c.1954T>C (p.Trp652Arg)
ClinVar
10g.110812516T>GCA378371946RBM20c.2119T>G (p.Trp707Gly)
c.1735T>G (p.Trp579Gly)
c.1954T>G (p.Trp652Gly)
10g.110812517G>ACA378371947RBM20c.2120G>A (p.Trp707Ter)
c.1736G>A (p.Trp579Ter)
c.1955G>A (p.Trp652Ter)
10g.110812517G>CCA378371951RBM20c.2120G>C (p.Trp707Ser)
c.1736G>C (p.Trp579Ser)
c.1955G>C (p.Trp652Ser)
10g.110812517G>TCA378371955RBM20c.2120G>T (p.Trp707Leu)
c.1736G>T (p.Trp579Leu)
c.1955G>T (p.Trp652Leu)
10g.110812518G>ACA378371969RBM20c.2121G>A (p.Trp707Ter)
c.1737G>A (p.Trp579Ter)
c.1956G>A (p.Trp652Ter)
10g.110812518G>CCA378371967RBM20c.2121G>C (p.Trp707Cys)
c.1737G>C (p.Trp579Cys)
c.1956G>C (p.Trp652Cys)
10g.110812518G>TCA378371960RBM20c.2121G>T (p.Trp707Cys)
c.1737G>T (p.Trp579Cys)
c.1956G>T (p.Trp652Cys)
10g.110812519G>ACA378371972RBM20c.2122G>A (p.Ala708Thr)
c.1738G>A (p.Ala580Thr)
c.1957G>A (p.Ala653Thr)
10g.110812519G>CCA378371993RBM20c.2122G>C (p.Ala708Pro)
c.1738G>C (p.Ala580Pro)
c.1957G>C (p.Ala653Pro)
10g.110812519G>TCA378371983RBM20c.2122G>T (p.Ala708Ser)
c.1738G>T (p.Ala580Ser)
c.1957G>T (p.Ala653Ser)
10g.110812520C>ACA378371997RBM20c.2123C>A (p.Ala708Glu)
c.1739C>A (p.Ala580Glu)
c.1958C>A (p.Ala653Glu)
dbSNP
10g.110812520C>GCA5688668RBM20c.2123C>G (p.Ala708Gly)
c.1739C>G (p.Ala580Gly)
c.1958C>G (p.Ala653Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812520C>TCA378371998RBM20c.2123C>T (p.Ala708Val)
c.1739C>T (p.Ala580Val)
c.1958C>T (p.Ala653Val)
gnomAD v4
10g.110812521A>CCA471507008RBM20c.2124A>C (p.Ala708=)
c.1740A>C (p.Ala580=)
c.1959A>C (p.Ala653=)
10g.110812521A>GCA471507009RBM20c.2124A>G (p.Ala708=)
c.1740A>G (p.Ala580=)
c.1959A>G (p.Ala653=)
10g.110812521A>TCA471507010RBM20c.2124A>T (p.Ala708=)
c.1740A>T (p.Ala580=)
c.1959A>T (p.Ala653=)
gnomAD v4
10g.110812522C>ACA378371999RBM20c.2125C>A (p.His709Asn)
c.1741C>A (p.His581Asn)
c.1960C>A (p.His654Asn)
10g.110812522C>GCA378372003RBM20c.2125C>G (p.His709Asp)
c.1741C>G (p.His581Asp)
c.1960C>G (p.His654Asp)
10g.110812522C>TCA378372013RBM20c.2125C>T (p.His709Tyr)
c.1741C>T (p.His581Tyr)
c.1960C>T (p.His654Tyr)
10g.110812523A>CCA378372018RBM20c.2126A>C (p.His709Pro)
c.1742A>C (p.His581Pro)
c.1961A>C (p.His654Pro)
10g.110812523A>GCA378372025RBM20c.2126A>G (p.His709Arg)
c.1742A>G (p.His581Arg)
c.1961A>G (p.His654Arg)
ClinVar dbSNP gnomAD v4
10g.110812523A>TCA378372046RBM20c.2126A>T (p.His709Leu)
c.1742A>T (p.His581Leu)
c.1961A>T (p.His654Leu)
10g.110812524T>ACA378372055RBM20c.2127T>A (p.His709Gln)
c.1743T>A (p.His581Gln)
c.1962T>A (p.His654Gln)
10g.110812524T>CCA471507018RBM20c.2127T>C (p.His709=)
c.1743T>C (p.His581=)
c.1962T>C (p.His654=)
10g.110812524T>GCA378372059RBM20c.2127T>G (p.His709Gln)
c.1743T>G (p.His581Gln)
c.1962T>G (p.His654Gln)
10g.110812525G>ACA378372062RBM20c.2128G>A (p.Asp710Asn)
c.1744G>A (p.Asp582Asn)
c.1963G>A (p.Asp655Asn)
10g.110812525G>CCA378372061RBM20c.2128G>C (p.Asp710His)
c.1744G>C (p.Asp582His)
c.1963G>C (p.Asp655His)
10g.110812525G>TCA378372060RBM20c.2128G>T (p.Asp710Tyr)
c.1744G>T (p.Asp582Tyr)
c.1963G>T (p.Asp655Tyr)
10g.110812526A>CCA378372065RBM20c.2129A>C (p.Asp710Ala)
c.1745A>C (p.Asp582Ala)
c.1964A>C (p.Asp655Ala)
10g.110812526A>GCA378372068RBM20c.2129A>G (p.Asp710Gly)
c.1745A>G (p.Asp582Gly)
c.1964A>G (p.Asp655Gly)
gnomAD v4
10g.110812526A>TCA378372076RBM20c.2129A>T (p.Asp710Val)
c.1745A>T (p.Asp582Val)
c.1964A>T (p.Asp655Val)
10g.110812527T>ACA378372083RBM20c.2130T>A (p.Asp710Glu)
c.1746T>A (p.Asp582Glu)
c.1965T>A (p.Asp655Glu)
10g.110812527T>CCA471507027RBM20c.2130T>C (p.Asp710=)
c.1746T>C (p.Asp582=)
c.1965T>C (p.Asp655=)
dbSNP gnomAD v2 gnomAD v4
10g.110812527T>GCA378372086RBM20c.2130T>G (p.Asp710Glu)
c.1746T>G (p.Asp582Glu)
c.1965T>G (p.Asp655Glu)
10g.110812528C>ACA378372087RBM20c.2131C>A (p.Arg711Ser)
c.1747C>A (p.Arg583Ser)
c.1966C>A (p.Arg656Ser)
10g.110812528C>GCA378372089RBM20c.2131C>G (p.Arg711Gly)
c.1747C>G (p.Arg583Gly)
c.1966C>G (p.Arg656Gly)
ClinVar dbSNP
10g.110812528C>TCA10587690RBM20c.2131C>T (p.Arg711Cys)
c.1747C>T (p.Arg583Cys)
c.1966C>T (p.Arg656Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812529G>ACA378372098RBM20c.2132G>A (p.Arg711His)
c.1748G>A (p.Arg583His)
c.1967G>A (p.Arg656His)
ClinVar dbSNP
10g.110812529G>CCA378372114RBM20c.2132G>C (p.Arg711Pro)
c.1748G>C (p.Arg583Pro)
c.1967G>C (p.Arg656Pro)
ClinVar dbSNP
10g.110812529G>TCA378372118RBM20c.2132G>T (p.Arg711Leu)
c.1748G>T (p.Arg583Leu)
c.1967G>T (p.Arg656Leu)
gnomAD v4
10g.110812530C>ACA471507032RBM20c.2133C>A (p.Arg711=)
c.1749C>A (p.Arg583=)
c.1968C>A (p.Arg656=)
10g.110812530C>GCA471507035RBM20c.2133C>G (p.Arg711=)
c.1749C>G (p.Arg583=)
c.1968C>G (p.Arg656=)
10g.110812530C>TCA471507036RBM20c.2133C>T (p.Arg711=)
c.1749C>T (p.Arg583=)
c.1968C>T (p.Arg656=)
gnomAD v4
10g.110812531A>CCA378372123RBM20c.2134A>C (p.Lys712Gln)
c.1750A>C (p.Lys584Gln)
c.1969A>C (p.Lys657Gln)
10g.110812531A>GCA378372122RBM20c.2134A>G (p.Lys712Glu)
c.1750A>G (p.Lys584Glu)
c.1969A>G (p.Lys657Glu)
10g.110812531A>TCA378372121RBM20c.2134A>T (p.Lys712Ter)
c.1750A>T (p.Lys584Ter)
c.1969A>T (p.Lys657Ter)
10g.110812532A>CCA378372125RBM20c.2135A>C (p.Lys712Thr)
c.1751A>C (p.Lys584Thr)
c.1970A>C (p.Lys657Thr)
10g.110812532A>GCA378372126RBM20c.2135A>G (p.Lys712Arg)
c.1751A>G (p.Lys584Arg)
c.1970A>G (p.Lys657Arg)
10g.110812532A>TCA378372127RBM20c.2135A>T (p.Lys712Ile)
c.1751A>T (p.Lys584Ile)
c.1970A>T (p.Lys657Ile)
gnomAD v4
10g.110812533A>CCA378372131RBM20c.2136A>C (p.Lys712Asn)
c.1752A>C (p.Lys584Asn)
c.1971A>C (p.Lys657Asn)
10g.110812533A>GCA471507043RBM20c.2136A>G (p.Lys712=)
c.1752A>G (p.Lys584=)
c.1971A>G (p.Lys657=)
dbSNP
10g.110812533A>TCA378372137RBM20c.2136A>T (p.Lys712Asn)
c.1752A>T (p.Lys584Asn)
c.1971A>T (p.Lys657Asn)
10g.110812534C>ACA378372140RBM20c.2137C>A (p.His713Asn)
c.1753C>A (p.His585Asn)
c.1972C>A (p.His658Asn)
10g.110812534C>GCA378372149RBM20c.2137C>G (p.His713Asp)
c.1753C>G (p.His585Asp)
c.1972C>G (p.His658Asp)
10g.110812534C>TCA378372154RBM20c.2137C>T (p.His713Tyr)
c.1753C>T (p.His585Tyr)
c.1972C>T (p.His658Tyr)
dbSNP
10g.110812535A>CCA378372155RBM20c.2138A>C (p.His713Pro)
c.1754A>C (p.His585Pro)
c.1973A>C (p.His658Pro)
10g.110812535A>GCA378372159RBM20c.2138A>G (p.His713Arg)
c.1754A>G (p.His585Arg)
c.1973A>G (p.His658Arg)
dbSNP gnomAD v3 gnomAD v4
10g.110812535A>TCA378372160RBM20c.2138A>T (p.His713Leu)
c.1754A>T (p.His585Leu)
c.1973A>T (p.His658Leu)
10g.110812536C>ACA378372161RBM20c.2139C>A (p.His713Gln)
c.1755C>A (p.His585Gln)
c.1974C>A (p.His658Gln)
dbSNP gnomAD v4
10g.110812536C>GCA378372162RBM20c.2139C>G (p.His713Gln)
c.1755C>G (p.His585Gln)
c.1974C>G (p.His658Gln)
gnomAD v4
10g.110812536C>TCA471507050RBM20c.2139C>T (p.His713=)
c.1755C>T (p.His585=)
c.1974C>T (p.His658=)
dbSNP gnomAD v2 gnomAD v4
10g.110812538_110812542dupCA659824356RBM20c.2141_2145dup (p.Arg716ThrfsTer?)
c.1757_1761dup (p.Arg588ThrfsTer?)
c.1976_1980dup (p.Arg661ThrfsTer?)
dbSNP gnomAD v3 gnomAD v4
10g.110812537C>ACA378372172RBM20c.2140C>A (p.His714Asn)
c.1756C>A (p.His586Asn)
c.1975C>A (p.His659Asn)
10g.110812537C>GCA378372163RBM20c.2140C>G (p.His714Asp)
c.1756C>G (p.His586Asp)
c.1975C>G (p.His659Asp)
10g.110812537C>TCA378372170RBM20c.2140C>T (p.His714Tyr)
c.1756C>T (p.His586Tyr)
c.1975C>T (p.His659Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812538A>CCA378372180RBM20c.2141A>C (p.His714Pro)
c.1757A>C (p.His586Pro)
c.1976A>C (p.His659Pro)
10g.110812538A>GCA378372184RBM20c.2141A>G (p.His714Arg)
c.1757A>G (p.His586Arg)
c.1976A>G (p.His659Arg)
10g.110812538A>TCA378372188RBM20c.2141A>T (p.His714Leu)
c.1757A>T (p.His586Leu)
c.1976A>T (p.His659Leu)
10g.110812539C>ACA378372189RBM20c.2142C>A (p.His714Gln)
c.1758C>A (p.His586Gln)
c.1977C>A (p.His659Gln)
ClinVar dbSNP gnomAD v4
10g.110812539C>GCA378372190RBM20c.2142C>G (p.His714Gln)
c.1758C>G (p.His586Gln)
c.1977C>G (p.His659Gln)
10g.110812539C>TCA471507053RBM20c.2142C>T (p.His714=)
c.1758C>T (p.His586=)
c.1977C>T (p.His659=)
gnomAD v4
10g.110812540C>ACA378372192RBM20c.2143C>A (p.Pro715Thr)
c.1759C>A (p.Pro587Thr)
c.1978C>A (p.Pro660Thr)
10g.110812540C>GCA378372194RBM20c.2143C>G (p.Pro715Ala)
c.1759C>G (p.Pro587Ala)
c.1978C>G (p.Pro660Ala)
10g.110812540C>TCA378372196RBM20c.2143C>T (p.Pro715Ser)
c.1759C>T (p.Pro587Ser)
c.1978C>T (p.Pro660Ser)
10g.110812541C>ACA378372198RBM20c.2144C>A (p.Pro715His)
c.1760C>A (p.Pro587His)
c.1979C>A (p.Pro660His)
10g.110812541C>GCA378372201RBM20c.2144C>G (p.Pro715Arg)
c.1760C>G (p.Pro587Arg)
c.1979C>G (p.Pro660Arg)
10g.110812541C>TCA378372207RBM20c.2144C>T (p.Pro715Leu)
c.1760C>T (p.Pro587Leu)
c.1979C>T (p.Pro660Leu)
10g.110812542C>ACA471507058RBM20c.2145C>A (p.Pro715=)
c.1761C>A (p.Pro587=)
c.1980C>A (p.Pro660=)
10g.110812542C>GCA471507060RBM20c.2145C>G (p.Pro715=)
c.1761C>G (p.Pro587=)
c.1980C>G (p.Pro660=)
10g.110812542C>TCA5688669RBM20c.2145C>T (p.Pro715=)
c.1761C>T (p.Pro587=)
c.1980C>T (p.Pro660=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812543C>ACA471507062RBM20c.2146C>A (p.Arg716=)
c.1762C>A (p.Arg588=)
c.1981C>A (p.Arg661=)
10g.110812543C>GCA378372212RBM20c.2146C>G (p.Arg716Gly)
c.1762C>G (p.Arg588Gly)
c.1981C>G (p.Arg661Gly)
gnomAD v4
10g.110812543C>TCA378372218RBM20c.2146C>T (p.Arg716Trp)
c.1762C>T (p.Arg588Trp)
c.1981C>T (p.Arg661Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812544G>ACA133304RBM20c.2147G>A (p.Arg716Gln)
c.1763G>A (p.Arg588Gln)
c.1982G>A (p.Arg661Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812544G>CCA378372225RBM20c.2147G>C (p.Arg716Pro)
c.1763G>C (p.Arg588Pro)
c.1982G>C (p.Arg661Pro)
gnomAD v4
10g.110812544G>TCA378372222RBM20c.2147G>T (p.Arg716Leu)
c.1763G>T (p.Arg588Leu)
c.1982G>T (p.Arg661Leu)
10g.110812545G>ACA471507067RBM20c.2148G>A (p.Arg716=)
c.1764G>A (p.Arg588=)
c.1983G>A (p.Arg661=)
10g.110812545G>CCA471507068RBM20c.2148G>C (p.Arg716=)
c.1764G>C (p.Arg588=)
c.1983G>C (p.Arg661=)
10g.110812545G>TCA471507069RBM20c.2148G>T (p.Arg716=)
c.1764G>T (p.Arg588=)
c.1983G>T (p.Arg661=)
10g.110812546C>ACA213223830RBM20c.2149C>A (p.Gln717Lys)
c.1765C>A (p.Gln589Lys)
c.1984C>A (p.Gln662Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812546C>GCA378372238RBM20c.2149C>G (p.Gln717Glu)
c.1765C>G (p.Gln589Glu)
c.1984C>G (p.Gln662Glu)
10g.110812546C>TCA378372234RBM20c.2149C>T (p.Gln717Ter)
c.1765C>T (p.Gln589Ter)
c.1984C>T (p.Gln662Ter)
10g.110812547A>CCA378372240RBM20c.2150A>C (p.Gln717Pro)
c.1766A>C (p.Gln589Pro)
c.1985A>C (p.Gln662Pro)
10g.110812547A>GCA378372242RBM20c.2150A>G (p.Gln717Arg)
c.1766A>G (p.Gln589Arg)
c.1985A>G (p.Gln662Arg)
10g.110812547A>TCA378372244RBM20c.2150A>T (p.Gln717Leu)
c.1766A>T (p.Gln589Leu)
c.1985A>T (p.Gln662Leu)
10g.110812548A>CCA378372247RBM20c.2151A>C (p.Gln717His)
c.1767A>C (p.Gln589His)
c.1986A>C (p.Gln662His)
10g.110812548A>GCA471507074RBM20c.2151A>G (p.Gln717=)
c.1767A>G (p.Gln589=)
c.1986A>G (p.Gln662=)
10g.110812548A>TCA378372249RBM20c.2151A>T (p.Gln717His)
c.1767A>T (p.Gln589His)
c.1986A>T (p.Gln662His)
10g.110812549C>ACA378372251RBM20c.2152C>A (p.Leu718Met)
c.1768C>A (p.Leu590Met)
c.1987C>A (p.Leu663Met)
10g.110812549C>GCA213223846RBM20c.2152C>G (p.Leu718Val)
c.1768C>G (p.Leu590Val)
c.1987C>G (p.Leu663Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812549C>TCA471507078RBM20c.2152C>T (p.Leu718=)
c.1768C>T (p.Leu590=)
c.1987C>T (p.Leu663=)
10g.110812550T>ACA378372257RBM20c.2153T>A (p.Leu718Gln)
c.1769T>A (p.Leu590Gln)
c.1988T>A (p.Leu663Gln)
10g.110812550T>CCA5688670RBM20c.2153T>C (p.Leu718Pro)
c.1769T>C (p.Leu590Pro)
c.1988T>C (p.Leu663Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812550T>GCA378372263RBM20c.2153T>G (p.Leu718Arg)
c.1769T>G (p.Leu590Arg)
c.1988T>G (p.Leu663Arg)
10g.110812551G>ACA471507081RBM20c.2154G>A (p.Leu718=)
c.1770G>A (p.Leu590=)
c.1989G>A (p.Leu663=)
gnomAD v4
10g.110812551G>CCA471507083RBM20c.2154G>C (p.Leu718=)
c.1770G>C (p.Leu590=)
c.1989G>C (p.Leu663=)
gnomAD v4
10g.110812551G>TCA471507085RBM20c.2154G>T (p.Leu718=)
c.1770G>T (p.Leu590=)
c.1989G>T (p.Leu663=)
10g.110812552G>ACA378372269RBM20c.2155G>A (p.Asp719Asn)
c.1771G>A (p.Asp591Asn)
c.1990G>A (p.Asp664Asn)
10g.110812552G>CCA378372266RBM20c.2155G>C (p.Asp719His)
c.1771G>C (p.Asp591His)
c.1990G>C (p.Asp664His)
dbSNP gnomAD v2 gnomAD v4
10g.110812552G>TCA378372265RBM20c.2155G>T (p.Asp719Tyr)
c.1771G>T (p.Asp591Tyr)
c.1990G>T (p.Asp664Tyr)
10g.110812553A>CCA378372271RBM20c.2156A>C (p.Asp719Ala)
c.1772A>C (p.Asp591Ala)
c.1991A>C (p.Asp664Ala)
10g.110812553A>GCA378372272RBM20c.2156A>G (p.Asp719Gly)
c.1772A>G (p.Asp591Gly)
c.1991A>G (p.Asp664Gly)
10g.110812553A>TCA378372273RBM20c.2156A>T (p.Asp719Val)
c.1772A>T (p.Asp591Val)
c.1991A>T (p.Asp664Val)
10g.110812554C>ACA378372275RBM20c.2157C>A (p.Asp719Glu)
c.1773C>A (p.Asp591Glu)
c.1992C>A (p.Asp664Glu)
10g.110812554C>GCA378372276RBM20c.2157C>G (p.Asp719Glu)
c.1773C>G (p.Asp591Glu)
c.1992C>G (p.Asp664Glu)
10g.110812554C>TCA471507087RBM20c.2157C>T (p.Asp719=)
c.1773C>T (p.Asp591=)
c.1992C>T (p.Asp664=)
10g.110812555A>CCA378372277RBM20c.2158A>C (p.Lys720Gln)
c.1774A>C (p.Lys592Gln)
c.1993A>C (p.Lys665Gln)
10g.110812555A>GCA335557RBM20c.2158A>G (p.Lys720Glu)
c.1774A>G (p.Lys592Glu)
c.1993A>G (p.Lys665Glu)
ClinVar dbSNP gnomAD v4
10g.110812555A>TCA378372279RBM20c.2158A>T (p.Lys720Ter)
c.1774A>T (p.Lys592Ter)
c.1993A>T (p.Lys665Ter)
10g.110812556A>CCA378372280RBM20c.2159A>C (p.Lys720Thr)
c.1775A>C (p.Lys592Thr)
c.1994A>C (p.Lys665Thr)
10g.110812556A>GCA378372282RBM20c.2159A>G (p.Lys720Arg)
c.1775A>G (p.Lys592Arg)
c.1994A>G (p.Lys665Arg)
10g.110812556A>TCA378372283RBM20c.2159A>T (p.Lys720Met)
c.1775A>T (p.Lys592Met)
c.1994A>T (p.Lys665Met)
10g.110812557G>ACA471507090RBM20c.2160G>A (p.Lys720=)
c.1776G>A (p.Lys592=)
c.1995G>A (p.Lys665=)
10g.110812557G>CCA378372286RBM20c.2160G>C (p.Lys720Asn)
c.1776G>C (p.Lys592Asn)
c.1995G>C (p.Lys665Asn)
dbSNP gnomAD v2 gnomAD v4
10g.110812557G>TCA378372284RBM20c.2160G>T (p.Lys720Asn)
c.1776G>T (p.Lys592Asn)
c.1995G>T (p.Lys665Asn)
10g.110812558G>ACA378372287RBM20c.2161G>A (p.Ala721Thr)
c.1777G>A (p.Ala593Thr)
c.1996G>A (p.Ala666Thr)
ClinVar dbSNP gnomAD v4
10g.110812558G>CCA378372288RBM20c.2161G>C (p.Ala721Pro)
c.1777G>C (p.Ala593Pro)
c.1996G>C (p.Ala666Pro)
10g.110812558G>TCA10576769RBM20c.2161G>T (p.Ala721Ser)
c.1777G>T (p.Ala593Ser)
c.1996G>T (p.Ala666Ser)
ClinVar dbSNP gnomAD v4
10g.110812559C>ACA378372291RBM20c.2162C>A (p.Ala721Asp)
c.1778C>A (p.Ala593Asp)
c.1997C>A (p.Ala666Asp)
10g.110812559C>GCA378372292RBM20c.2162C>G (p.Ala721Gly)
c.1778C>G (p.Ala593Gly)
c.1997C>G (p.Ala666Gly)
10g.110812559C>TCA378372294RBM20c.2162C>T (p.Ala721Val)
c.1778C>T (p.Ala593Val)
c.1997C>T (p.Ala666Val)
10g.110812560T>ACA471507096RBM20c.2163T>A (p.Ala721=)
c.1779T>A (p.Ala593=)
c.1998T>A (p.Ala666=)
10g.110812560T>CCA471507095RBM20c.2163T>C (p.Ala721=)
c.1779T>C (p.Ala593=)
c.1998T>C (p.Ala666=)
10g.110812560T>GCA471507097RBM20c.2163T>G (p.Ala721=)
c.1779T>G (p.Ala593=)
c.1998T>G (p.Ala666=)
10g.110812561G>ACA378372301RBM20c.2164G>A (p.Glu722Lys)
c.1780G>A (p.Glu594Lys)
c.1999G>A (p.Glu667Lys)
10g.110812561G>CCA378372302RBM20c.2164G>C (p.Glu722Gln)
c.1780G>C (p.Glu594Gln)
c.1999G>C (p.Glu667Gln)
10g.110812561G>TCA378372305RBM20c.2164G>T (p.Glu722Ter)
c.1780G>T (p.Glu594Ter)
c.1999G>T (p.Glu667Ter)
COSMIC
10g.110812562_110812563delCA2610892817RBM20c.2165_2166del (p.Glu722ValfsTer?)
c.1781_1782del (p.Glu594ValfsTer?)
c.2000_2001del (p.Glu667ValfsTer?)
gnomAD v4
10g.110812564_110812572delCA2610892818RBM20c.2167_2175del (p.Leu723_Glu725del)
c.1783_1791del (p.Leu595_Glu597del)
c.2002_2010del (p.Leu668_Glu670del)
gnomAD v4
10g.110812562A>CCA378372313RBM20c.2165A>C (p.Glu722Ala)
c.1781A>C (p.Glu594Ala)
c.2000A>C (p.Glu667Ala)
10g.110812562A>GCA378372315RBM20c.2165A>G (p.Glu722Gly)
c.1781A>G (p.Glu594Gly)
c.2000A>G (p.Glu667Gly)
10g.110812562A>TCA378372322RBM20c.2165A>T (p.Glu722Val)
c.1781A>T (p.Glu594Val)
c.2000A>T (p.Glu667Val)
gnomAD v4
10g.110812563G>ACA471507100RBM20c.2166G>A (p.Glu722=)
c.1782G>A (p.Glu594=)
c.2001G>A (p.Glu667=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812563G>CCA378372327RBM20c.2166G>C (p.Glu722Asp)
c.1782G>C (p.Glu594Asp)
c.2001G>C (p.Glu667Asp)
10g.110812563G>TCA378372325RBM20c.2166G>T (p.Glu722Asp)
c.1782G>T (p.Glu594Asp)
c.2001G>T (p.Glu667Asp)
10g.110812564T>ACA378372330RBM20c.2167T>A (p.Leu723Met)
c.1783T>A (p.Leu595Met)
c.2002T>A (p.Leu668Met)
10g.110812564T>CCA471507104RBM20c.2167T>C (p.Leu723=)
c.1783T>C (p.Leu595=)
c.2002T>C (p.Leu668=)
10g.110812564T>GCA378372331RBM20c.2167T>G (p.Leu723Val)
c.1783T>G (p.Leu595Val)
c.2002T>G (p.Leu668Val)
10g.110812565T>ACA378372334RBM20c.2168T>A (p.Leu723Ter)
c.1784T>A (p.Leu595Ter)
c.2003T>A (p.Leu668Ter)
10g.110812565T>CCA5688671RBM20c.2168T>C (p.Leu723Ser)
c.1784T>C (p.Leu595Ser)
c.2003T>C (p.Leu668Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812565T>GCA378372337RBM20c.2168T>G (p.Leu723Trp)
c.1784T>G (p.Leu595Trp)
c.2003T>G (p.Leu668Trp)
10g.110812566G>ACA471507108RBM20c.2169G>A (p.Leu723=)
c.1785G>A (p.Leu595=)
c.2004G>A (p.Leu668=)
dbSNP gnomAD v2 gnomAD v4
10g.110812566G>CCA378372343RBM20c.2169G>C (p.Leu723Phe)
c.1785G>C (p.Leu595Phe)
c.2004G>C (p.Leu668Phe)
10g.110812566G>TCA378372345RBM20c.2169G>T (p.Leu723Phe)
c.1785G>T (p.Leu595Phe)
c.2004G>T (p.Leu668Phe)
10g.110812567G>ACA378372347RBM20c.2170G>A (p.Asp724Asn)
c.1786G>A (p.Asp596Asn)
c.2005G>A (p.Asp669Asn)
gnomAD v4
10g.110812567G>CCA378372350RBM20c.2170G>C (p.Asp724His)
c.1786G>C (p.Asp596His)
c.2005G>C (p.Asp669His)
10g.110812567G>TCA378372351RBM20c.2170G>T (p.Asp724Tyr)
c.1786G>T (p.Asp596Tyr)
c.2005G>T (p.Asp669Tyr)
10g.110812568A>CCA378372353RBM20c.2171A>C (p.Asp724Ala)
c.1787A>C (p.Asp596Ala)
c.2006A>C (p.Asp669Ala)
10g.110812568A>GCA378372355RBM20c.2171A>G (p.Asp724Gly)
c.1787A>G (p.Asp596Gly)
c.2006A>G (p.Asp669Gly)
10g.110812568A>TCA378372357RBM20c.2171A>T (p.Asp724Val)
c.1787A>T (p.Asp596Val)
c.2006A>T (p.Asp669Val)
10g.110812569C>ACA378372363RBM20c.2172C>A (p.Asp724Glu)
c.1788C>A (p.Asp596Glu)
c.2007C>A (p.Asp669Glu)
10g.110812569C>GCA378372366RBM20c.2172C>G (p.Asp724Glu)
c.1788C>G (p.Asp596Glu)
c.2007C>G (p.Asp669Glu)
10g.110812569C>TCA5688672RBM20c.2172C>T (p.Asp724=)
c.1788C>T (p.Asp596=)
c.2007C>T (p.Asp669=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.110812570G>ACA077326RBM20c.2173G>A (p.Glu725Lys)
c.1789G>A (p.Glu597Lys)
c.2008G>A (p.Glu670Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812570G>CCA378372367RBM20c.2173G>C (p.Glu725Gln)
c.1789G>C (p.Glu597Gln)
c.2008G>C (p.Glu670Gln)
10g.110812570G>TCA378372368RBM20c.2173G>T (p.Glu725Ter)
c.1789G>T (p.Glu597Ter)
c.2008G>T (p.Glu670Ter)
10g.110812571A>CCA213223908RBM20c.2174A>C (p.Glu725Ala)
c.1790A>C (p.Glu597Ala)
c.2009A>C (p.Glu670Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812571A>GCA378372374RBM20c.2174A>G (p.Glu725Gly)
c.1790A>G (p.Glu597Gly)
c.2009A>G (p.Glu670Gly)
10g.110812571A>TCA378372378RBM20c.2174A>T (p.Glu725Val)
c.1790A>T (p.Glu597Val)
c.2009A>T (p.Glu670Val)
10g.110812572G>ACA471507117RBM20c.2175G>A (p.Glu725=)
c.1791G>A (p.Glu597=)
c.2010G>A (p.Glu670=)
10g.110812572G>CCA378372387RBM20c.2175G>C (p.Glu725Asp)
c.1791G>C (p.Glu597Asp)
c.2010G>C (p.Glu670Asp)
10g.110812572G>TCA378372390RBM20c.2175G>T (p.Glu725Asp)
c.1791G>T (p.Glu597Asp)
c.2010G>T (p.Glu670Asp)
10g.110812573C>ACA471507120RBM20c.2176C>A (p.Arg726=)
c.1792C>A (p.Arg598=)
c.2011C>A (p.Arg671=)
dbSNP gnomAD v4
10g.110812573C>GCA378372391RBM20c.2176C>G (p.Arg726Gly)
c.1792C>G (p.Arg598Gly)
c.2011C>G (p.Arg671Gly)
ClinVar dbSNP gnomAD v4
10g.110812573C>TCA378372392RBM20c.2176C>T (p.Arg726Ter)
c.1792C>T (p.Arg598Ter)
c.2011C>T (p.Arg671Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812573_110812574insCAGTTGCA2610892819RBM20c.2176_2177insCAGTTG (p.Arg726delinsProValGly)
c.1792_1793insCAGTTG (p.Arg598delinsProValGly)
c.2011_2012insCAGTTG (p.Arg671delinsProValGly)
gnomAD v4
10g.110812574G>ACA213223915RBM20c.2177G>A (p.Arg726Gln)
c.1793G>A (p.Arg598Gln)
c.2012G>A (p.Arg671Gln)
ClinVar dbSNP gnomAD v4
10g.110812574G>CCA378372394RBM20c.2177G>C (p.Arg726Pro)
c.1793G>C (p.Arg598Pro)
c.2012G>C (p.Arg671Pro)
10g.110812574G>TCA5688673RBM20c.2177G>T (p.Arg726Leu)
c.1793G>T (p.Arg598Leu)
c.2012G>T (p.Arg671Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.110812575A>CCA471507124RBM20c.2178A>C (p.Arg726=)
c.1794A>C (p.Arg598=)
c.2013A>C (p.Arg671=)
10g.110812575A>GCA471507121RBM20c.2178A>G (p.Arg726=)
c.1794A>G (p.Arg598=)
c.2013A>G (p.Arg671=)
10g.110812575A>TCA471507122RBM20c.2178A>T (p.Arg726=)
c.1794A>T (p.Arg598=)
c.2013A>T (p.Arg671=)
10g.110812576C>ACA378372401RBM20c.2179C>A (p.Pro727Thr)
c.1795C>A (p.Pro599Thr)
c.2014C>A (p.Pro672Thr)
10g.110812576C>GCA378372399RBM20c.2179C>G (p.Pro727Ala)
c.1795C>G (p.Pro599Ala)
c.2014C>G (p.Pro672Ala)
10g.110812576C>TCA378372400RBM20c.2179C>T (p.Pro727Ser)
c.1795C>T (p.Pro599Ser)
c.2014C>T (p.Pro672Ser)
10g.110812577C>ACA378372402RBM20c.2180C>A (p.Pro727Gln)
c.1796C>A (p.Pro599Gln)
c.2015C>A (p.Pro672Gln)
10g.110812577C>GCA378372405RBM20c.2180C>G (p.Pro727Arg)
c.1796C>G (p.Pro599Arg)
c.2015C>G (p.Pro672Arg)
10g.110812577C>TCA378372406RBM20c.2180C>T (p.Pro727Leu)
c.1796C>T (p.Pro599Leu)
c.2015C>T (p.Pro672Leu)
10g.110812578A>CCA471507130RBM20c.2181A>C (p.Pro727=)
c.1797A>C (p.Pro599=)
c.2016A>C (p.Pro672=)
10g.110812578A>GCA471507131RBM20c.2181A>G (p.Pro727=)
c.1797A>G (p.Pro599=)
c.2016A>G (p.Pro672=)
10g.110812578A>TCA471507133RBM20c.2181A>T (p.Pro727=)
c.1797A>T (p.Pro599=)
c.2016A>T (p.Pro672=)
10g.110812580_110812582delCA10576770RBM20c.2183_2185del (p.Glu728del)
c.1799_1801del (p.Glu600del)
c.2018_2020del (p.Glu673del)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812579G>ACA378372413RBM20c.2182G>A (p.Glu728Lys)
c.1798G>A (p.Glu600Lys)
c.2017G>A (p.Glu673Lys)
ClinVar
10g.110812579G>CCA378372415RBM20c.2182G>C (p.Glu728Gln)
c.1798G>C (p.Glu600Gln)
c.2017G>C (p.Glu673Gln)
gnomAD v4
10g.110812579G>TCA378372423RBM20c.2182G>T (p.Glu728Ter)
c.1798G>T (p.Glu600Ter)
c.2017G>T (p.Glu673Ter)
ClinVar dbSNP
10g.110812580A>CCA378372426RBM20c.2183A>C (p.Glu728Ala)
c.1799A>C (p.Glu600Ala)
c.2018A>C (p.Glu673Ala)
10g.110812580A>GCA378372430RBM20c.2183A>G (p.Glu728Gly)
c.1799A>G (p.Glu600Gly)
c.2018A>G (p.Glu673Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812580A>TCA378372432RBM20c.2183A>T (p.Glu728Val)
c.1799A>T (p.Glu600Val)
c.2018A>T (p.Glu673Val)
10g.110812581A>CCA378372435RBM20c.2184A>C (p.Glu728Asp)
c.1800A>C (p.Glu600Asp)
c.2019A>C (p.Glu673Asp)
10g.110812581A>GCA471507140RBM20c.2184A>G (p.Glu728=)
c.1800A>G (p.Glu600=)
c.2019A>G (p.Glu673=)
10g.110812581A>TCA378372437RBM20c.2184A>T (p.Glu728Asp)
c.1800A>T (p.Glu600Asp)
c.2019A>T (p.Glu673Asp)
10g.110812582G>ACA213223935RBM20c.2185G>A (p.Gly729Arg)
c.1801G>A (p.Gly601Arg)
c.2020G>A (p.Gly674Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812582G>CCA378372445RBM20c.2185G>C (p.Gly729Arg)
c.1801G>C (p.Gly601Arg)
c.2020G>C (p.Gly674Arg)
10g.110812582G>TCA378372441RBM20c.2185G>T (p.Gly729Ter)
c.1801G>T (p.Gly601Ter)
c.2020G>T (p.Gly674Ter)
10g.110812583G>ACA378372460RBM20c.2186G>A (p.Gly729Glu)
c.1802G>A (p.Gly601Glu)
c.2021G>A (p.Gly674Glu)
10g.110812583G>CCA378372465RBM20c.2186G>C (p.Gly729Ala)
c.1802G>C (p.Gly601Ala)
c.2021G>C (p.Gly674Ala)
10g.110812583G>TCA378372467RBM20c.2186G>T (p.Gly729Val)
c.1802G>T (p.Gly601Val)
c.2021G>T (p.Gly674Val)
gnomAD v4
10g.110812584A>CCA471507144RBM20c.2187A>C (p.Gly729=)
c.1803A>C (p.Gly601=)
c.2022A>C (p.Gly674=)
10g.110812584A>GCA471507146RBM20c.2187A>G (p.Gly729=)
c.1803A>G (p.Gly601=)
c.2022A>G (p.Gly674=)
10g.110812584A>TCA471507147RBM20c.2187A>T (p.Gly729=)
c.1803A>T (p.Gly601=)
c.2022A>T (p.Gly674=)
10g.110812585G>ACA378372472RBM20c.2188G>A (p.Gly730Arg)
c.1804G>A (p.Gly602Arg)
c.2023G>A (p.Gly675Arg)
ClinVar dbSNP
10g.110812585G>CCA378372477RBM20c.2188G>C (p.Gly730Arg)
c.1804G>C (p.Gly602Arg)
c.2023G>C (p.Gly675Arg)
ClinVar dbSNP
10g.110812585G>TCA378372485RBM20c.2188G>T (p.Gly730Trp)
c.1804G>T (p.Gly602Trp)
c.2023G>T (p.Gly675Trp)
10g.110812586G>ACA378372491RBM20c.2189G>A (p.Gly730Glu)
c.1805G>A (p.Gly602Glu)
c.2024G>A (p.Gly675Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110812586G>CCA378372494RBM20c.2189G>C (p.Gly730Ala)
c.1805G>C (p.Gly602Ala)
c.2024G>C (p.Gly675Ala)
10g.110812586G>TCA378372498RBM20c.2189G>T (p.Gly730Val)
c.1805G>T (p.Gly602Val)
c.2024G>T (p.Gly675Val)
10g.110812587G>ACA471507152RBM20c.2190G>A (p.Gly730=)
c.1806G>A (p.Gly602=)
c.2025G>A (p.Gly675=)
10g.110812587G>CCA471507154RBM20c.2190G>C (p.Gly730=)
c.1806G>C (p.Gly602=)
c.2025G>C (p.Gly675=)
10g.110812587G>TCA471507155RBM20c.2190G>T (p.Gly730=)
c.1806G>T (p.Gly602=)
c.2025G>T (p.Gly675=)
10g.110812588A>CCA471507157RBM20c.2191A>C (p.Arg731=)
c.1807A>C (p.Arg603=)
c.2026A>C (p.Arg676=)
10g.110812588A>GCA378372503RBM20c.2191A>G (p.Arg731Gly)
c.1807A>G (p.Arg603Gly)
c.2026A>G (p.Arg676Gly)
10g.110812588A>TCA378372506RBM20c.2191A>T (p.Arg731Trp)
c.1807A>T (p.Arg603Trp)
c.2026A>T (p.Arg676Trp)
10g.110812589G>ACA378372510RBM20c.2192G>A (p.Arg731Lys)
c.1808G>A (p.Arg603Lys)
c.2027G>A (p.Arg676Lys)
dbSNP gnomAD v3 gnomAD v4
10g.110812589G>CCA378372514RBM20c.2192G>C (p.Arg731Thr)
c.1808G>C (p.Arg603Thr)
c.2027G>C (p.Arg676Thr)
10g.110812589G>TCA378372517RBM20c.2192G>T (p.Arg731Met)
c.1808G>T (p.Arg603Met)
c.2027G>T (p.Arg676Met)
10g.110812590G>ACA471507161RBM20c.2193G>A (p.Arg731=)
c.1809G>A (p.Arg603=)
c.2028G>A (p.Arg676=)
gnomAD v4
10g.110812590G>CCA378372528RBM20c.2193G>C (p.Arg731Ser)
c.1809G>C (p.Arg603Ser)
c.2028G>C (p.Arg676Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110812590G>TCA378372531RBM20c.2193G>T (p.Arg731Ser)
c.1809G>T (p.Arg603Ser)
c.2028G>T (p.Arg676Ser)
dbSNP
10g.110812591C>ACA378372535RBM20c.2194C>A (p.Pro732Thr)
c.1810C>A (p.Pro604Thr)
c.2029C>A (p.Pro677Thr)
gnomAD v4
10g.110812591C>GCA378372536RBM20c.2194C>G (p.Pro732Ala)
c.1810C>G (p.Pro604Ala)
c.2029C>G (p.Pro677Ala)
10g.110812591C>TCA378372541RBM20c.2194C>T (p.Pro732Ser)
c.1810C>T (p.Pro604Ser)
c.2029C>T (p.Pro677Ser)
10g.110812592C>ACA378372545RBM20c.2195C>A (p.Pro732His)
c.1811C>A (p.Pro604His)
c.2030C>A (p.Pro677His)
10g.110812592C>GCA378372548RBM20c.2195C>G (p.Pro732Arg)
c.1811C>G (p.Pro604Arg)
c.2030C>G (p.Pro677Arg)
10g.110812592C>TCA378372569RBM20c.2195C>T (p.Pro732Leu)
c.1811C>T (p.Pro604Leu)
c.2030C>T (p.Pro677Leu)
10g.110812593C>ACA471507173RBM20c.2196C>A (p.Pro732=)
c.1812C>A (p.Pro604=)
c.2031C>A (p.Pro677=)
10g.110812593C>GCA471507176RBM20c.2196C>G (p.Pro732=)
c.1812C>G (p.Pro604=)
c.2031C>G (p.Pro677=)
10g.110812593C>TCA471507177RBM20c.2196C>T (p.Pro732=)
c.1812C>T (p.Pro604=)
c.2031C>T (p.Pro677=)
ClinVar dbSNP gnomAD v4 COSMIC
10g.110812594C>ACA378372582RBM20c.2197C>A (p.His733Asn)
c.1813C>A (p.His605Asn)
c.2032C>A (p.His678Asn)
10g.110812594C>GCA378372600RBM20c.2197C>G (p.His733Asp)
c.1813C>G (p.His605Asp)
c.2032C>G (p.His678Asp)
10g.110812594C>TCA378372603RBM20c.2197C>T (p.His733Tyr)
c.1813C>T (p.His605Tyr)
c.2032C>T (p.His678Tyr)
gnomAD v4
10g.110812595A>CCA378372606RBM20c.2198A>C (p.His733Pro)
c.1814A>C (p.His605Pro)
c.2033A>C (p.His678Pro)
10g.110812595A>GCA378372608RBM20c.2198A>G (p.His733Arg)
c.1814A>G (p.His605Arg)
c.2033A>G (p.His678Arg)
10g.110812595A>TCA378372613RBM20c.2198A>T (p.His733Leu)
c.1814A>T (p.His605Leu)
c.2033A>T (p.His678Leu)
10g.110812596C>ACA378372618RBM20c.2199C>A (p.His733Gln)
c.1815C>A (p.His605Gln)
c.2034C>A (p.His678Gln)
10g.110812596C>GCA378372619RBM20c.2199C>G (p.His733Gln)
c.1815C>G (p.His605Gln)
c.2034C>G (p.His678Gln)
10g.110812596C>TCA471507181RBM20c.2199C>T (p.His733=)
c.1815C>T (p.His605=)
c.2034C>T (p.His678=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.110812597C>ACA471507182RBM20c.2200C>A (p.Arg734=)
c.1816C>A (p.Arg606=)
c.2035C>A (p.Arg679=)
10g.110812597C>GCA378372622RBM20c.2200C>G (p.Arg734Gly)
c.1816C>G (p.Arg606Gly)
c.2035C>G (p.Arg679Gly)
10g.110812597C>TCA10634587RBM20c.2200C>T (p.Arg734Trp)
c.1816C>T (p.Arg606Trp)
c.2035C>T (p.Arg679Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812598G>ACA181428RBM20c.2201G>A (p.Arg734Gln)
c.1817G>A (p.Arg606Gln)
c.2036G>A (p.Arg679Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812598G>CCA378372627RBM20c.2201G>C (p.Arg734Pro)
c.1817G>C (p.Arg606Pro)
c.2036G>C (p.Arg679Pro)
ClinVar dbSNP gnomAD v4
10g.110812598G>TCA378372624RBM20c.2201G>T (p.Arg734Leu)
c.1817G>T (p.Arg606Leu)
c.2036G>T (p.Arg679Leu)
10g.110812599G>ACA471507186RBM20c.2202G>A (p.Arg734=)
c.1818G>A (p.Arg606=)
c.2037G>A (p.Arg679=)
10g.110812599G>CCA471507187RBM20c.2202G>C (p.Arg734=)
c.1818G>C (p.Arg606=)
c.2037G>C (p.Arg679=)
10g.110812599G>TCA471507188RBM20c.2202G>T (p.Arg734=)
c.1818G>T (p.Arg606=)
c.2037G>T (p.Arg679=)
10g.110812600G>ACA378372630RBM20c.2203G>A (p.Glu735Lys)
c.1819G>A (p.Glu607Lys)
c.2038G>A (p.Glu680Lys)
gnomAD v4
10g.110812600G>CCA378372636RBM20c.2203G>C (p.Glu735Gln)
c.1819G>C (p.Glu607Gln)
c.2038G>C (p.Glu680Gln)
10g.110812600G>TCA378372634RBM20c.2203G>T (p.Glu735Ter)
c.1819G>T (p.Glu607Ter)
c.2038G>T (p.Glu680Ter)
10g.110812601A>CCA378372641RBM20c.2204A>C (p.Glu735Ala)
c.1820A>C (p.Glu607Ala)
c.2039A>C (p.Glu680Ala)
10g.110812601A>GCA378372648RBM20c.2204A>G (p.Glu735Gly)
c.1820A>G (p.Glu607Gly)
c.2039A>G (p.Glu680Gly)
gnomAD v4
10g.110812601A>TCA378372645RBM20c.2204A>T (p.Glu735Val)
c.1820A>T (p.Glu607Val)
c.2039A>T (p.Glu680Val)
10g.110812602G>ACA471507195RBM20c.2205G>A (p.Glu735=)
c.1821G>A (p.Glu607=)
c.2040G>A (p.Glu680=)
ClinVar dbSNP
10g.110812602G>CCA378372652RBM20c.2205G>C (p.Glu735Asp)
c.1821G>C (p.Glu607Asp)
c.2040G>C (p.Glu680Asp)
10g.110812602G>TCA378372653RBM20c.2205G>T (p.Glu735Asp)
c.1821G>T (p.Glu607Asp)
c.2040G>T (p.Glu680Asp)
10g.110812603A>CCA378372654RBM20c.2206A>C (p.Lys736Gln)
c.1822A>C (p.Lys608Gln)
c.2041A>C (p.Lys681Gln)
10g.110812603A>GCA378372655RBM20c.2206A>G (p.Lys736Glu)
c.1822A>G (p.Lys608Glu)
c.2041A>G (p.Lys681Glu)
10g.110812603A>TCA378372656RBM20c.2206A>T (p.Lys736Ter)
c.1822A>T (p.Lys608Ter)
c.2041A>T (p.Lys681Ter)
10g.110812604A>CCA378372659RBM20c.2207A>C (p.Lys736Thr)
c.1823A>C (p.Lys608Thr)
c.2042A>C (p.Lys681Thr)
ClinVar
10g.110812604A>GCA378372672RBM20c.2207A>G (p.Lys736Arg)
c.1823A>G (p.Lys608Arg)
c.2042A>G (p.Lys681Arg)
10g.110812604A>TCA378372675RBM20c.2207A>T (p.Lys736Met)
c.1823A>T (p.Lys608Met)
c.2042A>T (p.Lys681Met)
10g.110812605G>ACA471507202RBM20c.2208G>A (p.Lys736=)
c.1824G>A (p.Lys608=)
c.2043G>A (p.Lys681=)
ClinVar dbSNP
10g.110812605G>CCA378372679RBM20c.2208G>C (p.Lys736Asn)
c.1824G>C (p.Lys608Asn)
c.2043G>C (p.Lys681Asn)
10g.110812605G>TCA378372687RBM20c.2208G>T (p.Lys736Asn)
c.1824G>T (p.Lys608Asn)
c.2043G>T (p.Lys681Asn)
10g.110812606T>ACA378372697RBM20c.2209T>A (p.Tyr737Asn)
c.1825T>A (p.Tyr609Asn)
c.2044T>A (p.Tyr682Asn)
10g.110812606T>CCA378372692RBM20c.2209T>C (p.Tyr737His)
c.1825T>C (p.Tyr609His)
c.2044T>C (p.Tyr682His)
10g.110812606T>GCA378372690RBM20c.2209T>G (p.Tyr737Asp)
c.1825T>G (p.Tyr609Asp)
c.2044T>G (p.Tyr682Asp)
10g.110812607A>CCA378372701RBM20c.2210A>C (p.Tyr737Ser)
c.1826A>C (p.Tyr609Ser)
c.2045A>C (p.Tyr682Ser)
dbSNP
10g.110812607A>GCA378372702RBM20c.2210A>G (p.Tyr737Cys)
c.1826A>G (p.Tyr609Cys)
c.2045A>G (p.Tyr682Cys)
10g.110812607A>TCA378372703RBM20c.2210A>T (p.Tyr737Phe)
c.1826A>T (p.Tyr609Phe)
c.2045A>T (p.Tyr682Phe)
10g.110812608C>ACA378372704RBM20c.2211C>A (p.Tyr737Ter)
c.1827C>A (p.Tyr609Ter)
c.2046C>A (p.Tyr682Ter)
10g.110812608C>GCA378372705RBM20c.2211C>G (p.Tyr737Ter)
c.1827C>G (p.Tyr609Ter)
c.2046C>G (p.Tyr682Ter)
gnomAD v4
10g.110812608C>TCA471507207RBM20c.2211C>T (p.Tyr737=)
c.1827C>T (p.Tyr609=)
c.2046C>T (p.Tyr682=)
10g.110812609C>ACA378372708RBM20c.2212C>A (p.Pro738Thr)
c.1828C>A (p.Pro610Thr)
c.2047C>A (p.Pro683Thr)
10g.110812609C>GCA378372710RBM20c.2212C>G (p.Pro738Ala)
c.1828C>G (p.Pro610Ala)
c.2047C>G (p.Pro683Ala)
10g.110812609C>TCA378372713RBM20c.2212C>T (p.Pro738Ser)
c.1828C>T (p.Pro610Ser)
c.2047C>T (p.Pro683Ser)
10g.110812610C>ACA378372718RBM20c.2213C>A (p.Pro738Gln)
c.1829C>A (p.Pro610Gln)
c.2048C>A (p.Pro683Gln)
gnomAD v4 COSMIC
10g.110812610C>GCA378372733RBM20c.2213C>G (p.Pro738Arg)
c.1829C>G (p.Pro610Arg)
c.2048C>G (p.Pro683Arg)
ClinVar dbSNP gnomAD v4
10g.110812610C>TCA133307RBM20c.2213C>T (p.Pro738Leu)
c.1829C>T (p.Pro610Leu)
c.2048C>T (p.Pro683Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812611G>ACA16606623RBM20c.2214G>A (p.Pro738=)
c.1830G>A (p.Pro610=)
c.2049G>A (p.Pro683=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812611G>CCA471507211RBM20c.2214G>C (p.Pro738=)
c.1830G>C (p.Pro610=)
c.2049G>C (p.Pro683=)
10g.110812611G>TCA471507212RBM20c.2214G>T (p.Pro738=)
c.1830G>T (p.Pro610=)
c.2049G>T (p.Pro683=)
ClinVar dbSNP
10g.110812612A>CCA471507214RBM20c.2215A>C (p.Arg739=)
c.1831A>C (p.Arg611=)
c.2050A>C (p.Arg684=)
10g.110812612A>GCA378372741RBM20c.2215A>G (p.Arg739Gly)
c.1831A>G (p.Arg611Gly)
c.2050A>G (p.Arg684Gly)
10g.110812612A>TCA378372745RBM20c.2215A>T (p.Arg739Ter)
c.1831A>T (p.Arg611Ter)
c.2050A>T (p.Arg684Ter)
10g.110812613G>ACA378372753RBM20c.2216G>A (p.Arg739Lys)
c.1832G>A (p.Arg611Lys)
c.2051G>A (p.Arg684Lys)
gnomAD v4
10g.110812613G>CCA378372755RBM20c.2216G>C (p.Arg739Thr)
c.1832G>C (p.Arg611Thr)
c.2051G>C (p.Arg684Thr)
10g.110812613G>TCA378372759RBM20c.2216G>T (p.Arg739Ile)
c.1832G>T (p.Arg611Ile)
c.2051G>T (p.Arg684Ile)
ClinVar gnomAD v4
10g.110812614A>CCA378372763RBM20c.2217A>C (p.Arg739Ser)
c.1833A>C (p.Arg611Ser)
c.2052A>C (p.Arg684Ser)
10g.110812614A>GCA471507220RBM20c.2217A>G (p.Arg739=)
c.1833A>G (p.Arg611=)
c.2052A>G (p.Arg684=)
10g.110812614A>TCA378372766RBM20c.2217A>T (p.Arg739Ser)
c.1833A>T (p.Arg611Ser)
c.2052A>T (p.Arg684Ser)
10g.110812615T>ACA378372767RBM20c.2218T>A (p.Ser740Thr)
c.1834T>A (p.Ser612Thr)
c.2053T>A (p.Ser685Thr)
10g.110812615T>CCA378372768RBM20c.2218T>C (p.Ser740Pro)
c.1834T>C (p.Ser612Pro)
c.2053T>C (p.Ser685Pro)
10g.110812615T>GCA378372769RBM20c.2218T>G (p.Ser740Ala)
c.1834T>G (p.Ser612Ala)
c.2053T>G (p.Ser685Ala)

Number of alleles fetched