Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.113399912G>ACA6281048ANKK1c.1943G>A (p.Cys648Tyr)
c.1976G>A (p.Cys659Tyr)
c.1946G>A (p.Cys649Tyr)
c.1754G>A (p.Cys585Tyr)
c.1973G>A (p.Cys658Tyr)
 dbSNP ExAC
11g.113399912G>CCA382646723ANKK1c.1943G>C (p.Cys648Ser)
c.1976G>C (p.Cys659Ser)
c.1946G>C (p.Cys649Ser)
c.1754G>C (p.Cys585Ser)
c.1973G>C (p.Cys658Ser)
11g.113399912G=CA2001153223ANKK1c.1943G= (p.Cys648=)
c.1976G= (p.Cys659=)
c.1946G= (p.Cys649=)
c.1754G= (p.Cys585=)
c.1973G= (p.Cys658=)
11g.113399912G>TCA382646721ANKK1c.1943G>T (p.Cys648Phe)
c.1976G>T (p.Cys659Phe)
c.1946G>T (p.Cys649Phe)
c.1754G>T (p.Cys585Phe)
c.1973G>T (p.Cys658Phe)
11g.113399913_113399917delCA2616033668ANKK1c.1944_1948del (p.Gly649Ter)
c.1977_1981del (p.Gly660Ter)
c.1947_1951del (p.Gly650Ter)
c.1755_1759del (p.Gly586Ter)
c.1974_1978del (p.Gly659Ter)
 gnomAD v4
11g.113399913T>ACA382646725ANKK1c.1944T>A (p.Cys648Ter)
c.1977T>A (p.Cys659Ter)
c.1947T>A (p.Cys649Ter)
c.1755T>A (p.Cys585Ter)
c.1974T>A (p.Cys658Ter)
11g.113399913T>CCA477042945ANKK1c.1944T>C (p.Cys648=)
c.1977T>C (p.Cys659=)
c.1947T>C (p.Cys649=)
c.1755T>C (p.Cys585=)
c.1974T>C (p.Cys658=)
11g.113399913T>GCA382646727ANKK1c.1944T>G (p.Cys648Trp)
c.1977T>G (p.Cys659Trp)
c.1947T>G (p.Cys649Trp)
c.1755T>G (p.Cys585Trp)
c.1974T>G (p.Cys658Trp)
11g.113399914G>ACA382646729ANKK1c.1945G>A (p.Gly649Arg)
c.1978G>A (p.Gly660Arg)
c.1948G>A (p.Gly650Arg)
c.1756G>A (p.Gly586Arg)
c.1975G>A (p.Gly659Arg)
11g.113399914G>CCA382646731ANKK1c.1945G>C (p.Gly649Arg)
c.1978G>C (p.Gly660Arg)
c.1948G>C (p.Gly650Arg)
c.1756G>C (p.Gly586Arg)
c.1975G>C (p.Gly659Arg)
11g.113399914G>TCA382646733ANKK1c.1945G>T (p.Gly649Trp)
c.1978G>T (p.Gly660Trp)
c.1948G>T (p.Gly650Trp)
c.1756G>T (p.Gly586Trp)
c.1975G>T (p.Gly659Trp)
11g.113399915G>ACA382646739ANKK1c.1946G>A (p.Gly649Glu)
c.1979G>A (p.Gly660Glu)
c.1949G>A (p.Gly650Glu)
c.1757G>A (p.Gly586Glu)
c.1976G>A (p.Gly659Glu)
11g.113399915G>CCA382646737ANKK1c.1946G>C (p.Gly649Ala)
c.1979G>C (p.Gly660Ala)
c.1949G>C (p.Gly650Ala)
c.1757G>C (p.Gly586Ala)
c.1976G>C (p.Gly659Ala)
11g.113399915G>TCA382646735ANKK1c.1946G>T (p.Gly649Val)
c.1979G>T (p.Gly660Val)
c.1949G>T (p.Gly650Val)
c.1757G>T (p.Gly586Val)
c.1976G>T (p.Gly659Val)
11g.113399916G>ACA477042946ANKK1c.1947G>A (p.Gly649=)
c.1980G>A (p.Gly660=)
c.1950G>A (p.Gly650=)
c.1758G>A (p.Gly586=)
c.1977G>A (p.Gly659=)
11g.113399916G>CCA477042947ANKK1c.1947G>C (p.Gly649=)
c.1980G>C (p.Gly660=)
c.1950G>C (p.Gly650=)
c.1758G>C (p.Gly586=)
c.1977G>C (p.Gly659=)
11g.113399916G>TCA477042948ANKK1c.1947G>T (p.Gly649=)
c.1980G>T (p.Gly660=)
c.1950G>T (p.Gly650=)
c.1758G>T (p.Gly586=)
c.1977G>T (p.Gly659=)
11g.113399917G>ACA382646741ANKK1c.1948G>A (p.Ala650Thr)
c.1981G>A (p.Ala661Thr)
c.1951G>A (p.Ala651Thr)
c.1759G>A (p.Ala587Thr)
c.1978G>A (p.Ala660Thr)
 dbSNP
11g.113399917G>CCA382646743ANKK1c.1948G>C (p.Ala650Pro)
c.1981G>C (p.Ala661Pro)
c.1951G>C (p.Ala651Pro)
c.1759G>C (p.Ala587Pro)
c.1978G>C (p.Ala660Pro)
11g.113399917G=CA2001153226ANKK1c.1948G= (p.Ala650=)
c.1981G= (p.Ala661=)
c.1951G= (p.Ala651=)
c.1759G= (p.Ala587=)
c.1978G= (p.Ala660=)
11g.113399917G>TCA382646745ANKK1c.1948G>T (p.Ala650Ser)
c.1981G>T (p.Ala661Ser)
c.1951G>T (p.Ala651Ser)
c.1759G>T (p.Ala587Ser)
c.1978G>T (p.Ala660Ser)
 gnomAD v4 COSMIC
11g.113399918C>ACA382646747ANKK1c.1949C>A (p.Ala650Asp)
c.1982C>A (p.Ala661Asp)
c.1952C>A (p.Ala651Asp)
c.1760C>A (p.Ala587Asp)
c.1979C>A (p.Ala660Asp)
11g.113399918C>GCA382646749ANKK1c.1949C>G (p.Ala650Gly)
c.1982C>G (p.Ala661Gly)
c.1952C>G (p.Ala651Gly)
c.1760C>G (p.Ala587Gly)
c.1979C>G (p.Ala660Gly)
11g.113399918C>TCA382646751ANKK1c.1949C>T (p.Ala650Val)
c.1982C>T (p.Ala661Val)
c.1952C>T (p.Ala651Val)
c.1760C>T (p.Ala587Val)
c.1979C>T (p.Ala660Val)
11g.113399919T>ACA477042949ANKK1c.1950T>A (p.Ala650=)
c.1983T>A (p.Ala661=)
c.1953T>A (p.Ala651=)
c.1761T>A (p.Ala587=)
c.1980T>A (p.Ala660=)
11g.113399919T>CCA477042950ANKK1c.1950T>C (p.Ala650=)
c.1983T>C (p.Ala661=)
c.1953T>C (p.Ala651=)
c.1761T>C (p.Ala587=)
c.1980T>C (p.Ala660=)
11g.113399919T>GCA477042951ANKK1c.1950T>G (p.Ala650=)
c.1983T>G (p.Ala661=)
c.1953T>G (p.Ala651=)
c.1761T>G (p.Ala587=)
c.1980T>G (p.Ala660=)
11g.113399920G>ACA6281049ANKK1c.1951G>A (p.Asp651Asn)
c.1984G>A (p.Asp662Asn)
c.1954G>A (p.Asp652Asn)
c.1762G>A (p.Asp588Asn)
c.1981G>A (p.Asp661Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399920G>CCA382646757ANKK1c.1951G>C (p.Asp651His)
c.1984G>C (p.Asp662His)
c.1954G>C (p.Asp652His)
c.1762G>C (p.Asp588His)
c.1981G>C (p.Asp661His)
11g.113399920G=CA2001153230ANKK1c.1951G= (p.Asp651=)
c.1984G= (p.Asp662=)
c.1954G= (p.Asp652=)
c.1762G= (p.Asp588=)
c.1981G= (p.Asp661=)
11g.113399920G>TCA382646755ANKK1c.1951G>T (p.Asp651Tyr)
c.1984G>T (p.Asp662Tyr)
c.1954G>T (p.Asp652Tyr)
c.1762G>T (p.Asp588Tyr)
c.1981G>T (p.Asp661Tyr)
11g.113399921A=CA2001153234ANKK1c.1952A= (p.Asp651=)
c.1985A= (p.Asp662=)
c.1955A= (p.Asp652=)
c.1763A= (p.Asp588=)
c.1982A= (p.Asp661=)
11g.113399921A>CCA6281050ANKK1c.1952A>C (p.Asp651Ala)
c.1985A>C (p.Asp662Ala)
c.1955A>C (p.Asp652Ala)
c.1763A>C (p.Asp588Ala)
c.1982A>C (p.Asp661Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.113399921A>GCA382646760ANKK1c.1952A>G (p.Asp651Gly)
c.1985A>G (p.Asp662Gly)
c.1955A>G (p.Asp652Gly)
c.1763A>G (p.Asp588Gly)
c.1982A>G (p.Asp661Gly)
11g.113399921A>TCA382646762ANKK1c.1952A>T (p.Asp651Val)
c.1985A>T (p.Asp662Val)
c.1955A>T (p.Asp652Val)
c.1763A>T (p.Asp588Val)
c.1982A>T (p.Asp661Val)
11g.113399921_113399923delCA2616033678ANKK1c.1952_1954del (p.Asp651_Pro652delinsAla)
c.1985_1987del (p.Asp662_Pro663delinsAla)
c.1955_1957del (p.Asp652_Pro653delinsAla)
c.1763_1765del (p.Asp588_Pro589delinsAla)
c.1982_1984del (p.Asp661_Pro662delinsAla)
 gnomAD v4
11g.113399922C>ACA382646764ANKK1c.1953C>A (p.Asp651Glu)
c.1986C>A (p.Asp662Glu)
c.1956C>A (p.Asp652Glu)
c.1764C>A (p.Asp588Glu)
c.1983C>A (p.Asp661Glu)
11g.113399922C>GCA382646765ANKK1c.1953C>G (p.Asp651Glu)
c.1986C>G (p.Asp662Glu)
c.1956C>G (p.Asp652Glu)
c.1764C>G (p.Asp588Glu)
c.1983C>G (p.Asp661Glu)
11g.113399922C>TCA477042952ANKK1c.1953C>T (p.Asp651=)
c.1986C>T (p.Asp662=)
c.1956C>T (p.Asp652=)
c.1764C>T (p.Asp588=)
c.1983C>T (p.Asp661=)
11g.113399923C>ACA382646767ANKK1c.1954C>A (p.Pro652Thr)
c.1987C>A (p.Pro663Thr)
c.1957C>A (p.Pro653Thr)
c.1765C>A (p.Pro589Thr)
c.1984C>A (p.Pro662Thr)
11g.113399923C=CA2001153237ANKK1c.1954C= (p.Pro652=)
c.1987C= (p.Pro663=)
c.1957C= (p.Pro653=)
c.1765C= (p.Pro589=)
c.1984C= (p.Pro662=)
11g.113399923C>GCA382646768ANKK1c.1954C>G (p.Pro652Ala)
c.1987C>G (p.Pro663Ala)
c.1957C>G (p.Pro653Ala)
c.1765C>G (p.Pro589Ala)
c.1984C>G (p.Pro662Ala)
11g.113399923C>TCA6281051ANKK1c.1954C>T (p.Pro652Ser)
c.1987C>T (p.Pro663Ser)
c.1957C>T (p.Pro653Ser)
c.1765C>T (p.Pro589Ser)
c.1984C>T (p.Pro662Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.113399924C>ACA382646770ANKK1c.1955C>A (p.Pro652His)
c.1988C>A (p.Pro663His)
c.1958C>A (p.Pro653His)
c.1766C>A (p.Pro589His)
c.1985C>A (p.Pro662His)
11g.113399924C=CA2001153241ANKK1c.1955C= (p.Pro652=)
c.1988C= (p.Pro663=)
c.1958C= (p.Pro653=)
c.1766C= (p.Pro589=)
c.1985C= (p.Pro662=)
11g.113399924C>GCA382646775ANKK1c.1955C>G (p.Pro652Arg)
c.1988C>G (p.Pro663Arg)
c.1958C>G (p.Pro653Arg)
c.1766C>G (p.Pro589Arg)
c.1985C>G (p.Pro662Arg)
11g.113399924C>TCA382646777ANKK1c.1955C>T (p.Pro652Leu)
c.1988C>T (p.Pro663Leu)
c.1958C>T (p.Pro653Leu)
c.1766C>T (p.Pro589Leu)
c.1985C>T (p.Pro662Leu)
 dbSNP gnomAD v4
11g.113399924_113399925insAGCA2616033681ANKK1c.1955_1956insAG (p.Asn653AlafsTer22)
c.1988_1989insAG (p.Asn664AlafsTer22)
c.1958_1959insAG (p.Asn654AlafsTer22)
c.1766_1767insAG (p.Asn590AlafsTer22)
c.1985_1986insAG (p.Asn663AlafsTer22)
 gnomAD v4
11g.113399925C>ACA477042953ANKK1c.1956C>A (p.Pro652=)
c.1989C>A (p.Pro663=)
c.1959C>A (p.Pro653=)
c.1767C>A (p.Pro589=)
c.1986C>A (p.Pro662=)
11g.113399925C>GCA477042954ANKK1c.1956C>G (p.Pro652=)
c.1989C>G (p.Pro663=)
c.1959C>G (p.Pro653=)
c.1767C>G (p.Pro589=)
c.1986C>G (p.Pro662=)

Number of alleles fetched