Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.132329691T>A | CA375337770 | SETX | c.1907A>T (p.His636Leu) n.2091A>T | |
9 | g.132329691T>C | CA375337763 | SETX | c.1907A>G (p.His636Arg) n.2091A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329691T>G | CA375337765 | SETX | c.1907A>C (p.His636Pro) n.2091A>C | |
9 | g.132329691T= | CA1882149928 | SETX | c.1907A= (p.His636=) n.2091A= | |
9 | g.132329692G>A | CA375337776 | SETX | c.1906C>T (p.His636Tyr) n.2090C>T | dbSNP gnomAD v4 |
9 | g.132329692G>C | CA375337778 | SETX | c.1906C>G (p.His636Asp) n.2090C>G | |
9 | g.132329692G= | CA1882149931 | SETX | c.1906C= (p.His636=) n.2090C= | |
9 | g.132329692G>T | CA375337780 | SETX | c.1906C>A (p.His636Asn) n.2090C>A | |
9 | g.132329693C>A | CA375337784 | SETX | c.1905G>T (p.Met635Ile) n.2089G>T | |
9 | g.132329693C= | CA1882149934 | SETX | c.1905G= (p.Met635=) n.2089G= | |
9 | g.132329693C>G | CA375337785 | SETX | c.1905G>C (p.Met635Ile) n.2089G>C | |
9 | g.132329693C>T | CA375337786 | SETX | c.1905G>A (p.Met635Ile) n.2089G>A | |
9 | g.132329694A= | CA1882149940 | SETX | c.1904T= (p.Met635=) n.2088T= | |
9 | g.132329694A>C | CA375337790 | SETX | c.1904T>G (p.Met635Arg) n.2088T>G | |
9 | g.132329694A>G | CA5297697 | SETX | c.1904T>C (p.Met635Thr) n.2088T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329694A>T | CA375337793 | SETX | c.1904T>A (p.Met635Lys) n.2088T>A | |
9 | g.132329694_132329696dup | CA1882149938 | SETX | c.1902_1904dup (p.Asp634_Met635insIle) n.2086_2088dup | dbSNP |
9 | g.132329695T>A | CA375337794 | SETX | c.1903A>T (p.Met635Leu) n.2087A>T | |
9 | g.132329695T>C | CA375337795 | SETX | c.1903A>G (p.Met635Val) n.2087A>G | gnomAD v4 |
9 | g.132329695T>G | CA375337797 | SETX | c.1903A>C (p.Met635Leu) n.2087A>C | gnomAD v4 |
9 | g.132329696A= | CA1882149944 | SETX | c.1902T= (p.Asp634=) n.2086T= | |
9 | g.132329696A>C | CA375337806 | SETX | c.1902T>G (p.Asp634Glu) n.2086T>G | dbSNP gnomAD v4 |
9 | g.132329696A>G | CA467808956 | SETX | c.1902T>C (p.Asp634=) n.2086T>C | |
9 | g.132329696A>T | CA375337800 | SETX | c.1902T>A (p.Asp634Glu) n.2086T>A | |
9 | g.132329697T>A | CA375337810 | SETX | c.1901A>T (p.Asp634Val) n.2085A>T | |
9 | g.132329697T>C | CA375337830 | SETX | c.1901A>G (p.Asp634Gly) n.2085A>G | |
9 | g.132329697T>G | CA375337833 | SETX | c.1901A>C (p.Asp634Ala) n.2085A>C | |
9 | g.132329698C>A | CA375337839 | SETX | c.1900G>T (p.Asp634Tyr) n.2084G>T | gnomAD v4 |
9 | g.132329698C>G | CA375337841 | SETX | c.1900G>C (p.Asp634His) n.2084G>C | |
9 | g.132329698C>T | CA375337846 | SETX | c.1900G>A (p.Asp634Asn) n.2084G>A | |
9 | g.132329699T>A | CA375337848 | SETX | c.1899A>T (p.Lys633Asn) n.2083A>T | |
9 | g.132329699T>C | CA467808958 | SETX | c.1899A>G (p.Lys633=) n.2083A>G | |
9 | g.132329699T>G | CA375337850 | SETX | c.1899A>C (p.Lys633Asn) n.2083A>C | |
9 | g.132329700T>A | CA375337854 | SETX | c.1898A>T (p.Lys633Ile) n.2082A>T | |
9 | g.132329700T>C | CA375337859 | SETX | c.1898A>G (p.Lys633Arg) n.2082A>G | |
9 | g.132329700T>G | CA375337861 | SETX | c.1898A>C (p.Lys633Thr) n.2082A>C | |
9 | g.132329701T>A | CA375337865 | SETX | c.1897A>T (p.Lys633Ter) n.2081A>T | |
9 | g.132329701T>C | CA375337868 | SETX | c.1897A>G (p.Lys633Glu) n.2081A>G | dbSNP gnomAD v2 |
9 | g.132329701T>G | CA375337874 | SETX | c.1897A>C (p.Lys633Gln) n.2081A>C | |
9 | g.132329701T= | CA1882149946 | SETX | c.1897A= (p.Lys633=) n.2081A= | |
9 | g.132329702T>A | CA375337880 | SETX | c.1896A>T (p.Arg632Ser) n.2080A>T | |
9 | g.132329702T>C | CA5297698 | SETX | c.1896A>G (p.Arg632=) n.2080A>G | dbSNP ExAC gnomAD v2 |
9 | g.132329702T>G | CA375337877 | SETX | c.1896A>C (p.Arg632Ser) n.2080A>C | |
9 | g.132329702T= | CA1882149950 | SETX | c.1896A= (p.Arg632=) n.2080A= | |
9 | g.132329703C>A | CA5297699 | SETX | c.1895G>T (p.Arg632Ile) n.2079G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.132329703C= | CA1882149955 | SETX | c.1895G= (p.Arg632=) n.2079G= | |
9 | g.132329703C>G | CA375337895 | SETX | c.1895G>C (p.Arg632Thr) n.2079G>C | |
9 | g.132329703C>T | CA375337896 | SETX | c.1895G>A (p.Arg632Lys) n.2079G>A | |
9 | g.132329704T>A | CA375337898 | SETX | c.1894A>T (p.Arg632Ter) n.2078A>T | |
9 | g.132329704T>C | CA200813546 | SETX | c.1894A>G (p.Arg632Gly) n.2078A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |