Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36217403T>ACA373424228CLTA,GNEc.2224A>T (p.Ser742Cys)
c.1954A>T (p.Ser652Cys)
c.2131A>T (p.Ser711Cys)
c.1909A>T (p.Ser637Cys)
c.485+13224T>A (n.485+13224T>A)
c.1801A>T (p.Ser601Cys)
c.2116A>T (p.Ser706Cys)
c.2071A>T (p.Ser691Cys)
c.1978A>T (p.Ser660Cys)
9g.36217403T>CCA373424229CLTA,GNEc.2224A>G (p.Ser742Gly)
c.1954A>G (p.Ser652Gly)
c.2131A>G (p.Ser711Gly)
c.1909A>G (p.Ser637Gly)
c.485+13224T>C (n.485+13224T>C)
c.1801A>G (p.Ser601Gly)
c.2116A>G (p.Ser706Gly)
c.2071A>G (p.Ser691Gly)
c.1978A>G (p.Ser660Gly)
9g.36217403T>GCA373424231CLTA,GNEc.2224A>C (p.Ser742Arg)
c.1954A>C (p.Ser652Arg)
c.2131A>C (p.Ser711Arg)
c.1909A>C (p.Ser637Arg)
c.485+13224T>G (n.485+13224T>G)
c.1801A>C (p.Ser601Arg)
c.2116A>C (p.Ser706Arg)
c.2071A>C (p.Ser691Arg)
c.1978A>C (p.Ser660Arg)
9g.36217404G>ACA464494583CLTA,GNEc.2223C>T (p.Ala741=)
c.1953C>T (p.Ala651=)
c.2130C>T (p.Ala710=)
c.1908C>T (p.Ala636=)
c.485+13225G>A (n.485+13225G>A)
c.1800C>T (p.Ala600=)
c.2115C>T (p.Ala705=)
c.2070C>T (p.Ala690=)
c.1977C>T (p.Ala659=)
9g.36217404G>CCA464494584CLTA,GNEc.2223C>G (p.Ala741=)
c.1953C>G (p.Ala651=)
c.2130C>G (p.Ala710=)
c.1908C>G (p.Ala636=)
c.485+13225G>C (n.485+13225G>C)
c.1800C>G (p.Ala600=)
c.2115C>G (p.Ala705=)
c.2070C>G (p.Ala690=)
c.1977C>G (p.Ala659=)
9g.36217404G>TCA464494585CLTA,GNEc.2223C>A (p.Ala741=)
c.1953C>A (p.Ala651=)
c.2130C>A (p.Ala710=)
c.1908C>A (p.Ala636=)
c.485+13225G>T (n.485+13225G>T)
c.1800C>A (p.Ala600=)
c.2115C>A (p.Ala705=)
c.2070C>A (p.Ala690=)
c.1977C>A (p.Ala659=)
9g.36217405G>ACA373424232CLTA,GNEc.2222C>T (p.Ala741Val)
c.1952C>T (p.Ala651Val)
c.2129C>T (p.Ala710Val)
c.1907C>T (p.Ala636Val)
c.485+13226G>A (n.485+13226G>A)
c.1799C>T (p.Ala600Val)
c.2114C>T (p.Ala705Val)
c.2069C>T (p.Ala690Val)
c.1976C>T (p.Ala659Val)
 ClinVar
9g.36217405G>CCA373424233CLTA,GNEc.2222C>G (p.Ala741Gly)
c.1952C>G (p.Ala651Gly)
c.2129C>G (p.Ala710Gly)
c.1907C>G (p.Ala636Gly)
c.485+13226G>C (n.485+13226G>C)
c.1799C>G (p.Ala600Gly)
c.2114C>G (p.Ala705Gly)
c.2069C>G (p.Ala690Gly)
c.1976C>G (p.Ala659Gly)
9g.36217405G>TCA373424234CLTA,GNEc.2222C>A (p.Ala741Asp)
c.1952C>A (p.Ala651Asp)
c.2129C>A (p.Ala710Asp)
c.1907C>A (p.Ala636Asp)
c.485+13226G>T (n.485+13226G>T)
c.1799C>A (p.Ala600Asp)
c.2114C>A (p.Ala705Asp)
c.2069C>A (p.Ala690Asp)
c.1976C>A (p.Ala659Asp)
9g.36217406C>ACA373424237CLTA,GNEc.2221G>T (p.Ala741Ser)
c.1951G>T (p.Ala651Ser)
c.2128G>T (p.Ala710Ser)
c.1906G>T (p.Ala636Ser)
c.485+13227C>A (n.485+13227C>A)
c.1798G>T (p.Ala600Ser)
c.2113G>T (p.Ala705Ser)
c.2068G>T (p.Ala690Ser)
c.1975G>T (p.Ala659Ser)
9g.36217406C>GCA373424239CLTA,GNEc.2221G>C (p.Ala741Pro)
c.1951G>C (p.Ala651Pro)
c.2128G>C (p.Ala710Pro)
c.1906G>C (p.Ala636Pro)
c.485+13227C>G (n.485+13227C>G)
c.1798G>C (p.Ala600Pro)
c.2113G>C (p.Ala705Pro)
c.2068G>C (p.Ala690Pro)
c.1975G>C (p.Ala659Pro)
9g.36217406C>TCA373424235CLTA,GNEc.2221G>A (p.Ala741Thr)
c.1951G>A (p.Ala651Thr)
c.2128G>A (p.Ala710Thr)
c.1906G>A (p.Ala636Thr)
c.485+13227C>T (n.485+13227C>T)
c.1798G>A (p.Ala600Thr)
c.2113G>A (p.Ala705Thr)
c.2068G>A (p.Ala690Thr)
c.1975G>A (p.Ala659Thr)
9g.36217407A=CA1846323695CLTA,GNEc.2220T= (p.Ala740=)
c.1950T= (p.Ala650=)
c.2127T= (p.Ala709=)
c.1905T= (p.Ala635=)
c.485+13228A= (n.485+13228A=)
c.1797T= (p.Ala599=)
c.2112T= (p.Ala704=)
c.2067T= (p.Ala689=)
c.1974T= (p.Ala658=)
9g.36217407A>CCA464494587CLTA,GNEc.2220T>G (p.Ala740=)
c.1950T>G (p.Ala650=)
c.2127T>G (p.Ala709=)
c.1905T>G (p.Ala635=)
c.485+13228A>C (n.485+13228A>C)
c.1797T>G (p.Ala599=)
c.2112T>G (p.Ala704=)
c.2067T>G (p.Ala689=)
c.1974T>G (p.Ala658=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36217407A>GCA464494588CLTA,GNEc.2220T>C (p.Ala740=)
c.1950T>C (p.Ala650=)
c.2127T>C (p.Ala709=)
c.1905T>C (p.Ala635=)
c.485+13228A>G (n.485+13228A>G)
c.1797T>C (p.Ala599=)
c.2112T>C (p.Ala704=)
c.2067T>C (p.Ala689=)
c.1974T>C (p.Ala658=)
 ClinVar dbSNP
9g.36217407A>TCA464494586CLTA,GNEc.2220T>A (p.Ala740=)
c.1950T>A (p.Ala650=)
c.2127T>A (p.Ala709=)
c.1905T>A (p.Ala635=)
c.485+13228A>T (n.485+13228A>T)
c.1797T>A (p.Ala599=)
c.2112T>A (p.Ala704=)
c.2067T>A (p.Ala689=)
c.1974T>A (p.Ala658=)
9g.36217408G>ACA373424241CLTA,GNEc.2219C>T (p.Ala740Val)
c.1949C>T (p.Ala650Val)
c.2126C>T (p.Ala709Val)
c.1904C>T (p.Ala635Val)
c.485+13229G>A (n.485+13229G>A)
c.1796C>T (p.Ala599Val)
c.2111C>T (p.Ala704Val)
c.2066C>T (p.Ala689Val)
c.1973C>T (p.Ala658Val)
9g.36217408G>CCA373424242CLTA,GNEc.2219C>G (p.Ala740Gly)
c.1949C>G (p.Ala650Gly)
c.2126C>G (p.Ala709Gly)
c.1904C>G (p.Ala635Gly)
c.485+13229G>C (n.485+13229G>C)
c.1796C>G (p.Ala599Gly)
c.2111C>G (p.Ala704Gly)
c.2066C>G (p.Ala689Gly)
c.1973C>G (p.Ala658Gly)
9g.36217408G>TCA373424244CLTA,GNEc.2219C>A (p.Ala740Asp)
c.1949C>A (p.Ala650Asp)
c.2126C>A (p.Ala709Asp)
c.1904C>A (p.Ala635Asp)
c.485+13229G>T (n.485+13229G>T)
c.1796C>A (p.Ala599Asp)
c.2111C>A (p.Ala704Asp)
c.2066C>A (p.Ala689Asp)
c.1973C>A (p.Ala658Asp)
9g.36217409C>ACA373424246CLTA,GNEc.2218G>T (p.Ala740Ser)
c.1948G>T (p.Ala650Ser)
c.2125G>T (p.Ala709Ser)
c.1903G>T (p.Ala635Ser)
c.485+13230C>A (n.485+13230C>A)
c.1795G>T (p.Ala599Ser)
c.2110G>T (p.Ala704Ser)
c.2065G>T (p.Ala689Ser)
c.1972G>T (p.Ala658Ser)
9g.36217409C>GCA373424248CLTA,GNEc.2218G>C (p.Ala740Pro)
c.1948G>C (p.Ala650Pro)
c.2125G>C (p.Ala709Pro)
c.1903G>C (p.Ala635Pro)
c.485+13230C>G (n.485+13230C>G)
c.1795G>C (p.Ala599Pro)
c.2110G>C (p.Ala704Pro)
c.2065G>C (p.Ala689Pro)
c.1972G>C (p.Ala658Pro)
9g.36217409C>TCA373424249CLTA,GNEc.2218G>A (p.Ala740Thr)
c.1948G>A (p.Ala650Thr)
c.2125G>A (p.Ala709Thr)
c.1903G>A (p.Ala635Thr)
c.485+13230C>T (n.485+13230C>T)
c.1795G>A (p.Ala599Thr)
c.2110G>A (p.Ala704Thr)
c.2065G>A (p.Ala689Thr)
c.1972G>A (p.Ala658Thr)
 gnomAD v4
9g.36217410A>CCA464494589CLTA,GNEc.2217T>G (p.Gly739=)
c.1947T>G (p.Gly649=)
c.2124T>G (p.Gly708=)
c.1902T>G (p.Gly634=)
c.485+13231A>C (n.485+13231A>C)
c.1794T>G (p.Gly598=)
c.2109T>G (p.Gly703=)
c.2064T>G (p.Gly688=)
c.1971T>G (p.Gly657=)
9g.36217410A>GCA464494590CLTA,GNEc.2217T>C (p.Gly739=)
c.1947T>C (p.Gly649=)
c.2124T>C (p.Gly708=)
c.1902T>C (p.Gly634=)
c.485+13231A>G (n.485+13231A>G)
c.1794T>C (p.Gly598=)
c.2109T>C (p.Gly703=)
c.2064T>C (p.Gly688=)
c.1971T>C (p.Gly657=)
9g.36217410A>TCA464494591CLTA,GNEc.2217T>A (p.Gly739=)
c.1947T>A (p.Gly649=)
c.2124T>A (p.Gly708=)
c.1902T>A (p.Gly634=)
c.485+13231A>T (n.485+13231A>T)
c.1794T>A (p.Gly598=)
c.2109T>A (p.Gly703=)
c.2064T>A (p.Gly688=)
c.1971T>A (p.Gly657=)
9g.36217411C>ACA373424251CLTA,GNEc.2216G>T (p.Gly739Val)
c.1946G>T (p.Gly649Val)
c.2123G>T (p.Gly708Val)
c.1901G>T (p.Gly634Val)
c.485+13232C>A (n.485+13232C>A)
c.1793G>T (p.Gly598Val)
c.2108G>T (p.Gly703Val)
c.2063G>T (p.Gly688Val)
c.1970G>T (p.Gly657Val)
9g.36217411C>GCA373424253CLTA,GNEc.2216G>C (p.Gly739Ala)
c.1946G>C (p.Gly649Ala)
c.2123G>C (p.Gly708Ala)
c.1901G>C (p.Gly634Ala)
c.485+13232C>G (n.485+13232C>G)
c.1793G>C (p.Gly598Ala)
c.2108G>C (p.Gly703Ala)
c.2063G>C (p.Gly688Ala)
c.1970G>C (p.Gly657Ala)
9g.36217411C>TCA373424255CLTA,GNEc.2216G>A (p.Gly739Asp)
c.1946G>A (p.Gly649Asp)
c.2123G>A (p.Gly708Asp)
c.1901G>A (p.Gly634Asp)
c.485+13232C>T (n.485+13232C>T)
c.1793G>A (p.Gly598Asp)
c.2108G>A (p.Gly703Asp)
c.2063G>A (p.Gly688Asp)
c.1970G>A (p.Gly657Asp)
 gnomAD v4
9g.36217412C>ACA373424256CLTA,GNEc.2215G>T (p.Gly739Cys)
c.1945G>T (p.Gly649Cys)
c.2122G>T (p.Gly708Cys)
c.1900G>T (p.Gly634Cys)
c.485+13233C>A (n.485+13233C>A)
c.1792G>T (p.Gly598Cys)
c.2107G>T (p.Gly703Cys)
c.2062G>T (p.Gly688Cys)
c.1969G>T (p.Gly657Cys)
9g.36217412C=CA1846323710CLTA,GNEc.2215G= (p.Gly739=)
c.1945G= (p.Gly649=)
c.2122G= (p.Gly708=)
c.1900G= (p.Gly634=)
c.485+13233C= (n.485+13233C=)
c.1792G= (p.Gly598=)
c.2107G= (p.Gly703=)
c.2062G= (p.Gly688=)
c.1969G= (p.Gly657=)
9g.36217412C>GCA373424258CLTA,GNEc.2215G>C (p.Gly739Arg)
c.1945G>C (p.Gly649Arg)
c.2122G>C (p.Gly708Arg)
c.1900G>C (p.Gly634Arg)
c.485+13233C>G (n.485+13233C>G)
c.1792G>C (p.Gly598Arg)
c.2107G>C (p.Gly703Arg)
c.2062G>C (p.Gly688Arg)
c.1969G>C (p.Gly657Arg)
9g.36217412C>TCA373424260CLTA,GNEc.2215G>A (p.Gly739Ser)
c.1945G>A (p.Gly649Ser)
c.2122G>A (p.Gly708Ser)
c.1900G>A (p.Gly634Ser)
c.485+13233C>T (n.485+13233C>T)
c.1792G>A (p.Gly598Ser)
c.2107G>A (p.Gly703Ser)
c.2062G>A (p.Gly688Ser)
c.1969G>A (p.Gly657Ser)
 ClinVar dbSNP gnomAD v4
9g.36217413C>ACA464494592CLTA,GNEc.2214G>T (p.Leu738=)
c.1944G>T (p.Leu648=)
c.2121G>T (p.Leu707=)
c.1899G>T (p.Leu633=)
c.485+13234C>A (n.485+13234C>A)
c.1791G>T (p.Leu597=)
c.2106G>T (p.Leu702=)
c.2061G>T (p.Leu687=)
c.1968G>T (p.Leu656=)
9g.36217413C>GCA464494593CLTA,GNEc.2214G>C (p.Leu738=)
c.1944G>C (p.Leu648=)
c.2121G>C (p.Leu707=)
c.1899G>C (p.Leu633=)
c.485+13234C>G (n.485+13234C>G)
c.1791G>C (p.Leu597=)
c.2106G>C (p.Leu702=)
c.2061G>C (p.Leu687=)
c.1968G>C (p.Leu656=)
 gnomAD v4
9g.36217413C>TCA464494594CLTA,GNEc.2214G>A (p.Leu738=)
c.1944G>A (p.Leu648=)
c.2121G>A (p.Leu707=)
c.1899G>A (p.Leu633=)
c.485+13234C>T (n.485+13234C>T)
c.1791G>A (p.Leu597=)
c.2106G>A (p.Leu702=)
c.2061G>A (p.Leu687=)
c.1968G>A (p.Leu656=)
9g.36217414A=CA1846323720CLTA,GNEc.2213T= (p.Leu738=)
c.1943T= (p.Leu648=)
c.2120T= (p.Leu707=)
c.1898T= (p.Leu633=)
c.485+13235A= (n.485+13235A=)
c.1790T= (p.Leu597=)
c.2105T= (p.Leu702=)
c.2060T= (p.Leu687=)
c.1967T= (p.Leu656=)
9g.36217414A>CCA373424263CLTA,GNEc.2213T>G (p.Leu738Arg)
c.1943T>G (p.Leu648Arg)
c.2120T>G (p.Leu707Arg)
c.1898T>G (p.Leu633Arg)
c.485+13235A>C (n.485+13235A>C)
c.1790T>G (p.Leu597Arg)
c.2105T>G (p.Leu702Arg)
c.2060T>G (p.Leu687Arg)
c.1967T>G (p.Leu656Arg)
9g.36217414A>GCA10606347CLTA,GNEc.2213T>C (p.Leu738Pro)
c.1943T>C (p.Leu648Pro)
c.2120T>C (p.Leu707Pro)
c.1898T>C (p.Leu633Pro)
c.485+13235A>G (n.485+13235A>G)
c.1790T>C (p.Leu597Pro)
c.2105T>C (p.Leu702Pro)
c.2060T>C (p.Leu687Pro)
c.1967T>C (p.Leu656Pro)
 ClinVar dbSNP
9g.36217414A>TCA373424262CLTA,GNEc.2213T>A (p.Leu738Gln)
c.1943T>A (p.Leu648Gln)
c.2120T>A (p.Leu707Gln)
c.1898T>A (p.Leu633Gln)
c.485+13235A>T (n.485+13235A>T)
c.1790T>A (p.Leu597Gln)
c.2105T>A (p.Leu702Gln)
c.2060T>A (p.Leu687Gln)
c.1967T>A (p.Leu656Gln)
9g.36217415G>ACA5056344CLTA,GNEc.2212C>T (p.Leu738=)
c.1942C>T (p.Leu648=)
c.2119C>T (p.Leu707=)
c.1897C>T (p.Leu633=)
c.485+13236G>A (n.485+13236G>A)
c.1789C>T (p.Leu597=)
c.2104C>T (p.Leu702=)
c.2059C>T (p.Leu687=)
c.1966C>T (p.Leu656=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36217415G>CCA373424266CLTA,GNEc.2212C>G (p.Leu738Val)
c.1942C>G (p.Leu648Val)
c.2119C>G (p.Leu707Val)
c.1897C>G (p.Leu633Val)
c.485+13236G>C (n.485+13236G>C)
c.1789C>G (p.Leu597Val)
c.2104C>G (p.Leu702Val)
c.2059C>G (p.Leu687Val)
c.1966C>G (p.Leu656Val)
9g.36217415G=CA1846323725CLTA,GNEc.2212C= (p.Leu738=)
c.1942C= (p.Leu648=)
c.2119C= (p.Leu707=)
c.1897C= (p.Leu633=)
c.485+13236G= (n.485+13236G=)
c.1789C= (p.Leu597=)
c.2104C= (p.Leu702=)
c.2059C= (p.Leu687=)
c.1966C= (p.Leu656=)
9g.36217415G>TCA373424268CLTA,GNEc.2212C>A (p.Leu738Met)
c.1942C>A (p.Leu648Met)
c.2119C>A (p.Leu707Met)
c.1897C>A (p.Leu633Met)
c.485+13236G>T (n.485+13236G>T)
c.1789C>A (p.Leu597Met)
c.2104C>A (p.Leu702Met)
c.2059C>A (p.Leu687Met)
c.1966C>A (p.Leu656Met)
9g.36217416C>ACA464494595CLTA,GNEc.2211G>T (p.Leu737=)
c.1941G>T (p.Leu647=)
c.2118G>T (p.Leu706=)
c.1896G>T (p.Leu632=)
c.485+13237C>A (n.485+13237C>A)
c.1788G>T (p.Leu596=)
c.2103G>T (p.Leu701=)
c.2058G>T (p.Leu686=)
c.1965G>T (p.Leu655=)
 ClinVar gnomAD v4
9g.36217416C=CA1846323732CLTA,GNEc.2211G= (p.Leu737=)
c.1941G= (p.Leu647=)
c.2118G= (p.Leu706=)
c.1896G= (p.Leu632=)
c.485+13237C= (n.485+13237C=)
c.1788G= (p.Leu596=)
c.2103G= (p.Leu701=)
c.2058G= (p.Leu686=)
c.1965G= (p.Leu655=)
9g.36217416C>GCA464494596CLTA,GNEc.2211G>C (p.Leu737=)
c.1941G>C (p.Leu647=)
c.2118G>C (p.Leu706=)
c.1896G>C (p.Leu632=)
c.485+13237C>G (n.485+13237C>G)
c.1788G>C (p.Leu596=)
c.2103G>C (p.Leu701=)
c.2058G>C (p.Leu686=)
c.1965G>C (p.Leu655=)
9g.36217416C>TCA464494597CLTA,GNEc.2211G>A (p.Leu737=)
c.1941G>A (p.Leu647=)
c.2118G>A (p.Leu706=)
c.1896G>A (p.Leu632=)
c.485+13237C>T (n.485+13237C>T)
c.1788G>A (p.Leu596=)
c.2103G>A (p.Leu701=)
c.2058G>A (p.Leu686=)
c.1965G>A (p.Leu655=)
 ClinVar dbSNP
9g.36217416dupCA588147029CLTA,GNEc.2211dup (p.Leu738AlafsTer?)
c.1941dup (p.Leu648AlafsTer?)
c.2118dup (p.Leu707AlafsTer?)
c.1896dup (p.Leu633AlafsTer?)
c.485+13237dup (n.485+13237dup)
c.1788dup (p.Leu597AlafsTer?)
c.2103dup (p.Leu702AlafsTer?)
c.2058dup (p.Leu687AlafsTer?)
c.1965dup (p.Leu656AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.36217417A=CA1846323736CLTA,GNEc.2210T= (p.Leu737=)
c.1940T= (p.Leu647=)
c.2117T= (p.Leu706=)
c.1895T= (p.Leu632=)
c.485+13238A= (n.485+13238A=)
c.1787T= (p.Leu596=)
c.2102T= (p.Leu701=)
c.2057T= (p.Leu686=)
c.1964T= (p.Leu655=)
9g.36217417A>CCA373424270CLTA,GNEc.2210T>G (p.Leu737Arg)
c.1940T>G (p.Leu647Arg)
c.2117T>G (p.Leu706Arg)
c.1895T>G (p.Leu632Arg)
c.485+13238A>C (n.485+13238A>C)
c.1787T>G (p.Leu596Arg)
c.2102T>G (p.Leu701Arg)
c.2057T>G (p.Leu686Arg)
c.1964T>G (p.Leu655Arg)
 dbSNP

Number of alleles fetched