Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.132329588_132329591delinsCTCA | CA1882149716 | SETX | c.2007_2010delinsTGAG (p.Asn669=) n.2191_2194delinsTGAG | |
9 | g.132329590_132329592del | CA200813396 | SETX | c.2007_2009del (p.Asn669_Glu670delinsLys) n.2191_2193del | dbSNP |
9 | g.132329590_132329593delinsCATT | CA1882149718 | SETX | c.2005_2008delinsAATG (p.Asn669=) n.2189_2192delinsAATG | |
9 | g.132329591A>C | CA375337186 | SETX | c.2007T>G (p.Asn669Lys) n.2191T>G | gnomAD v4 |
9 | g.132329591A>G | CA467808896 | SETX | c.2007T>C (p.Asn669=) n.2191T>C | |
9 | g.132329591A>T | CA375337187 | SETX | c.2007T>A (p.Asn669Lys) n.2191T>A | |
9 | g.132329594_132329596del | CA5297679 | SETX | c.2005_2007del (p.Asn669del) n.2189_2191del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329592T>A | CA375337188 | SETX | c.2006A>T (p.Asn669Ile) n.2190A>T | |
9 | g.132329592T>C | CA375337189 | SETX | c.2006A>G (p.Asn669Ser) n.2190A>G | dbSNP gnomAD v2 |
9 | g.132329592T>G | CA375337190 | SETX | c.2006A>C (p.Asn669Thr) n.2190A>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329592T= | CA1882149726 | SETX | c.2006A= (p.Asn669=) n.2190A= | |
9 | g.132329593T>A | CA5297680 | SETX | c.2005A>T (p.Asn669Tyr) n.2189A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329593T>C | CA375337191 | SETX | c.2005A>G (p.Asn669Asp) n.2189A>G | |
9 | g.132329593T>G | CA375337192 | SETX | c.2005A>C (p.Asn669His) n.2189A>C | |
9 | g.132329593T= | CA1882149731 | SETX | c.2005A= (p.Asn669=) n.2189A= | |
9 | g.132329594A>C | CA375337193 | SETX | c.2004T>G (p.Asn668Lys) n.2188T>G | |
9 | g.132329594A>G | CA467808897 | SETX | c.2004T>C (p.Asn668=) n.2188T>C | |
9 | g.132329594A>T | CA375337194 | SETX | c.2004T>A (p.Asn668Lys) n.2188T>A | |
9 | g.132329595T>A | CA375337195 | SETX | c.2003A>T (p.Asn668Ile) n.2187A>T | |
9 | g.132329595T>C | CA5297681 | SETX | c.2003A>G (p.Asn668Ser) n.2187A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329595T>G | CA375337196 | SETX | c.2003A>C (p.Asn668Thr) n.2187A>C | |
9 | g.132329595T= | CA1882149736 | SETX | c.2003A= (p.Asn668=) n.2187A= | |
9 | g.132329596T>A | CA375337197 | SETX | c.2002A>T (p.Asn668Tyr) n.2186A>T | |
9 | g.132329596T>C | CA375337199 | SETX | c.2002A>G (p.Asn668Asp) n.2186A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132329596T>G | CA375337198 | SETX | c.2002A>C (p.Asn668His) n.2186A>C | |
9 | g.132329596T= | CA1882149742 | SETX | c.2002A= (p.Asn668=) n.2186A= | |
9 | g.132329597G>A | CA467808898 | SETX | c.2001C>T (p.Asp667=) n.2185C>T | |
9 | g.132329597G>C | CA375337200 | SETX | c.2001C>G (p.Asp667Glu) n.2185C>G | |
9 | g.132329597G>T | CA375337201 | SETX | c.2001C>A (p.Asp667Glu) n.2185C>A | |
9 | g.132329598T>A | CA200813418 | SETX | c.2000A>T (p.Asp667Val) n.2184A>T | dbSNP |
9 | g.132329598T>C | CA375337202 | SETX | c.2000A>G (p.Asp667Gly) n.2184A>G | |
9 | g.132329598T>G | CA375337203 | SETX | c.2000A>C (p.Asp667Ala) n.2184A>C | |
9 | g.132329598T= | CA1882149746 | SETX | c.2000A= (p.Asp667=) n.2184A= | |
9 | g.132329599C>A | CA375337204 | SETX | c.1999G>T (p.Asp667Tyr) n.2183G>T | |
9 | g.132329599C>G | CA375337205 | SETX | c.1999G>C (p.Asp667His) n.2183G>C | |
9 | g.132329599C>T | CA375337206 | SETX | c.1999G>A (p.Asp667Asn) n.2183G>A | ClinVar gnomAD v4 |
9 | g.132329600A= | CA1882149749 | SETX | c.1998T= (p.Gly666=) n.2182T= | |
9 | g.132329600A>C | CA467808901 | SETX | c.1998T>G (p.Gly666=) n.2182T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329600A>G | CA467808899 | SETX | c.1998T>C (p.Gly666=) n.2182T>C | |
9 | g.132329600A>T | CA467808900 | SETX | c.1998T>A (p.Gly666=) n.2182T>A | |
9 | g.132329601C>A | CA5297682 | SETX | c.1997G>T (p.Gly666Val) n.2181G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132329601C= | CA1882149753 | SETX | c.1997G= (p.Gly666=) n.2181G= | |
9 | g.132329601C>G | CA375337207 | SETX | c.1997G>C (p.Gly666Ala) n.2181G>C | |
9 | g.132329601C>T | CA375337208 | SETX | c.1997G>A (p.Gly666Asp) n.2181G>A | |
9 | g.132329602C>A | CA375337210 | SETX | c.1996G>T (p.Gly666Cys) n.2180G>T | |
9 | g.132329602C= | CA1882149756 | SETX | c.1996G= (p.Gly666=) n.2180G= | |
9 | g.132329602C>G | CA5297683 | SETX | c.1996G>C (p.Gly666Arg) n.2180G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132329602C>T | CA375337209 | SETX | c.1996G>A (p.Gly666Ser) n.2180G>A | |
9 | g.132329603T>A | CA375337211 | SETX | c.1995A>T (p.Glu665Asp) n.2179A>T | |
9 | g.132329603T>C | CA467808902 | SETX | c.1995A>G (p.Glu665=) n.2179A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132329603T>G | CA375337212 | SETX | c.1995A>C (p.Glu665Asp) n.2179A>C | |
9 | g.132329603T= | CA1882149761 | SETX | c.1995A= (p.Glu665=) n.2179A= | |
9 | g.132329603_132329609delinsTTCTATA | CA1882149759 | SETX | c.1989_1995delinsTATAGAA (p.Thr663=) n.2173_2179delinsTATAGAA | |
9 | g.132329604T>A | CA375337213 | SETX | c.1994A>T (p.Glu665Val) n.2178A>T | |
9 | g.132329604T>C | CA375337214 | SETX | c.1994A>G (p.Glu665Gly) n.2178A>G | |
9 | g.132329604T>G | CA375337215 | SETX | c.1994A>C (p.Glu665Ala) n.2178A>C | |
9 | g.132329604_132329609del | CA5297684 | SETX | c.1989_1994del (p.Ile664_Glu665del) n.2173_2178del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329605C>A | CA375337216 | SETX | c.1993G>T (p.Glu665Ter) n.2177G>T | |
9 | g.132329605C= | CA1882149766 | SETX | c.1993G= (p.Glu665=) n.2177G= | |
9 | g.132329605C>G | CA375337217 | SETX | c.1993G>C (p.Glu665Gln) n.2177G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329605C>T | CA375337218 | SETX | c.1993G>A (p.Glu665Lys) n.2177G>A | ClinVar dbSNP |
9 | g.132329606T>A | CA467808903 | SETX | c.1992A>T (p.Ile664=) n.2176A>T | |
9 | g.132329606T>C | CA375337219 | SETX | c.1992A>G (p.Ile664Met) n.2176A>G | dbSNP |
9 | g.132329606T>G | CA467808904 | SETX | c.1992A>C (p.Ile664=) n.2176A>C | |
9 | g.132329606T= | CA1882149771 | SETX | c.1992A= (p.Ile664=) n.2176A= | |
9 | g.132329608_132329609dup | CA2692254683 | SETX | c.1991_1992dup (p.Glu665Ter) n.2175_2176dup | gnomAD v4 |
9 | g.132329607A= | CA1882149774 | SETX | c.1991T= (p.Ile664=) n.2175T= | |
9 | g.132329607A>C | CA375337221 | SETX | c.1991T>G (p.Ile664Arg) n.2175T>G | |
9 | g.132329607A>G | CA375337222 | SETX | c.1991T>C (p.Ile664Thr) n.2175T>C | ClinVar dbSNP gnomAD v4 |
9 | g.132329607A>T | CA375337220 | SETX | c.1991T>A (p.Ile664Lys) n.2175T>A | |
9 | g.132329608T>A | CA375337223 | SETX | c.1990A>T (p.Ile664Leu) n.2174A>T | |
9 | g.132329608T>C | CA5297685 | SETX | c.1990A>G (p.Ile664Val) n.2174A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132329608T>G | CA375337224 | SETX | c.1990A>C (p.Ile664Leu) n.2174A>C | |
9 | g.132329608T= | CA1882149779 | SETX | c.1990A= (p.Ile664=) n.2174A= | |
9 | g.132329609A>C | CA467808905 | SETX | c.1989T>G (p.Thr663=) n.2173T>G | |
9 | g.132329609A>G | CA467808906 | SETX | c.1989T>C (p.Thr663=) n.2173T>C | |
9 | g.132329609A>T | CA467808907 | SETX | c.1989T>A (p.Thr663=) n.2173T>A | |
9 | g.132329610G>A | CA5297686 | SETX | c.1988C>T (p.Thr663Ile) n.2172C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329610G>C | CA375337225 | SETX | c.1988C>G (p.Thr663Ser) n.2172C>G | dbSNP gnomAD v4 |
9 | g.132329610G= | CA1882149780 | SETX | c.1988C= (p.Thr663=) n.2172C= | |
9 | g.132329610G>T | CA375337226 | SETX | c.1988C>A (p.Thr663Asn) n.2172C>A | |
9 | g.132329611T>A | CA375337229 | SETX | c.1987A>T (p.Thr663Ser) n.2171A>T | |
9 | g.132329611T>C | CA375337227 | SETX | c.1987A>G (p.Thr663Ala) n.2171A>G | |
9 | g.132329611T>G | CA375337228 | SETX | c.1987A>C (p.Thr663Pro) n.2171A>C | |
9 | g.132329612G>A | CA467808908 | SETX | c.1986C>T (p.Asn662=) n.2170C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329612G>C | CA375337230 | SETX | c.1986C>G (p.Asn662Lys) n.2170C>G | |
9 | g.132329612G= | CA1882149782 | SETX | c.1986C= (p.Asn662=) n.2170C= | |
9 | g.132329612G>T | CA375337231 | SETX | c.1986C>A (p.Asn662Lys) n.2170C>A | gnomAD v4 |
9 | g.132329613T>A | CA375337232 | SETX | c.1985A>T (p.Asn662Ile) n.2169A>T | |
9 | g.132329613T>C | CA375337233 | SETX | c.1985A>G (p.Asn662Ser) n.2169A>G | gnomAD v4 |
9 | g.132329613T>G | CA375337234 | SETX | c.1985A>C (p.Asn662Thr) n.2169A>C | |
9 | g.132329614T>A | CA375337235 | SETX | c.1984A>T (p.Asn662Tyr) n.2168A>T | |
9 | g.132329614T>C | CA375337237 | SETX | c.1984A>G (p.Asn662Asp) n.2168A>G | dbSNP gnomAD v4 |
9 | g.132329614T>G | CA375337236 | SETX | c.1984A>C (p.Asn662His) n.2168A>C | |
9 | g.132329614T= | CA1882149787 | SETX | c.1984A= (p.Asn662=) n.2168A= | |
9 | g.132329615A>C | CA375337238 | SETX | c.1983T>G (p.Asp661Glu) n.2167T>G | |
9 | g.132329615A>G | CA467808909 | SETX | c.1983T>C (p.Asp661=) n.2167T>C | |
9 | g.132329615A>T | CA375337239 | SETX | c.1983T>A (p.Asp661Glu) n.2167T>A | |
9 | g.132329616T>A | CA375337240 | SETX | c.1982A>T (p.Asp661Val) n.2166A>T | |
9 | g.132329616T>C | CA375337241 | SETX | c.1982A>G (p.Asp661Gly) n.2166A>G | dbSNP gnomAD v4 |
9 | g.132329616T>G | CA375337242 | SETX | c.1982A>C (p.Asp661Ala) n.2166A>C | |
9 | g.132329616T= | CA1882149790 | SETX | c.1982A= (p.Asp661=) n.2166A= | |
9 | g.132329617C>A | CA375337243 | SETX | c.1981G>T (p.Asp661Tyr) n.2165G>T | |
9 | g.132329617C>G | CA375337244 | SETX | c.1981G>C (p.Asp661His) n.2165G>C | |
9 | g.132329617C>T | CA375337245 | SETX | c.1981G>A (p.Asp661Asn) n.2165G>A | |
9 | g.132329618T>A | CA467808912 | SETX | c.1980A>T (p.Ala660=) n.2164A>T | |
9 | g.132329618T>C | CA467808910 | SETX | c.1980A>G (p.Ala660=) n.2164A>G | |
9 | g.132329618T>G | CA467808911 | SETX | c.1980A>C (p.Ala660=) n.2164A>C | |
9 | g.132329619G>A | CA375337246 | SETX | c.1979C>T (p.Ala660Val) n.2163C>T | |
9 | g.132329619G>C | CA148707 | SETX | c.1979C>G (p.Ala660Gly) n.2163C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.132329619G= | CA1882149794 | SETX | c.1979C= (p.Ala660=) n.2163C= | |
9 | g.132329619G>T | CA375337250 | SETX | c.1979C>A (p.Ala660Glu) n.2163C>A | dbSNP |
9 | g.132329620C>A | CA375337257 | SETX | c.1978G>T (p.Ala660Ser) n.2162G>T | |
9 | g.132329620C= | CA1882149800 | SETX | c.1978G= (p.Ala660=) n.2162G= | |
9 | g.132329620C>G | CA375337253 | SETX | c.1978G>C (p.Ala660Pro) n.2162G>C | |
9 | g.132329620C>T | CA375337252 | SETX | c.1978G>A (p.Ala660Thr) n.2162G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329621T>A | CA375337258 | SETX | c.1977A>T (p.Lys659Asn) n.2161A>T | |
9 | g.132329621T>C | CA467808913 | SETX | c.1977A>G (p.Lys659=) n.2161A>G | |
9 | g.132329621T>G | CA375337259 | SETX | c.1977A>C (p.Lys659Asn) n.2161A>C | |
9 | g.132329622T>A | CA375337261 | SETX | c.1976A>T (p.Lys659Ile) n.2160A>T | |
9 | g.132329622T>C | CA375337262 | SETX | c.1976A>G (p.Lys659Arg) n.2160A>G | |
9 | g.132329622T>G | CA375337263 | SETX | c.1976A>C (p.Lys659Thr) n.2160A>C | |
9 | g.132329623T>A | CA375337264 | SETX | c.1975A>T (p.Lys659Ter) n.2159A>T | |
9 | g.132329623T>C | CA375337265 | SETX | c.1975A>G (p.Lys659Glu) n.2159A>G | |
9 | g.132329623T>G | CA375337266 | SETX | c.1975A>C (p.Lys659Gln) n.2159A>C | |
9 | g.132329624G>A | CA467808914 | SETX | c.1974C>T (p.Ile658=) n.2158C>T | gnomAD v4 |
9 | g.132329624G>C | CA375337268 | SETX | c.1974C>G (p.Ile658Met) n.2158C>G | |
9 | g.132329624G>T | CA467808915 | SETX | c.1974C>A (p.Ile658=) n.2158C>A | |
9 | g.132329625A>C | CA375337269 | SETX | c.1973T>G (p.Ile658Ser) n.2157T>G | |
9 | g.132329625A>G | CA375337270 | SETX | c.1973T>C (p.Ile658Thr) n.2157T>C | |
9 | g.132329625A>T | CA375337272 | SETX | c.1973T>A (p.Ile658Asn) n.2157T>A | |
9 | g.132329626T>A | CA375337274 | SETX | c.1972A>T (p.Ile658Phe) n.2156A>T | |
9 | g.132329626T>C | CA375337275 | SETX | c.1972A>G (p.Ile658Val) n.2156A>G | |
9 | g.132329626T>G | CA375337280 | SETX | c.1972A>C (p.Ile658Leu) n.2156A>C | |
9 | g.132329627C>A | CA375337282 | SETX | c.1971G>T (p.Leu657Phe) n.2155G>T | |
9 | g.132329627C>G | CA375337283 | SETX | c.1971G>C (p.Leu657Phe) n.2155G>C | |
9 | g.132329627C>T | CA467808916 | SETX | c.1971G>A (p.Leu657=) n.2155G>A | COSMIC COSMIC |
9 | g.132329628A>C | CA375337285 | SETX | c.1970T>G (p.Leu657Trp) n.2154T>G | |
9 | g.132329628A>G | CA375337286 | SETX | c.1970T>C (p.Leu657Ser) n.2154T>C | |
9 | g.132329628A>T | CA375337287 | SETX | c.1970T>A (p.Leu657Ter) n.2154T>A | |
9 | g.132329629A>C | CA375337288 | SETX | c.1969T>G (p.Leu657Val) n.2153T>G | |
9 | g.132329629A>G | CA467808917 | SETX | c.1969T>C (p.Leu657=) n.2153T>C | |
9 | g.132329629A>T | CA375337290 | SETX | c.1969T>A (p.Leu657Met) n.2153T>A | |
9 | g.132329630T>A | CA467808918 | SETX | c.1968A>T (p.Val656=) n.2152A>T | |
9 | g.132329630T>C | CA5297687 | SETX | c.1968A>G (p.Val656=) n.2152A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329630T>G | CA467808919 | SETX | c.1968A>C (p.Val656=) n.2152A>C | |
9 | g.132329630T= | CA1882149805 | SETX | c.1968A= (p.Val656=) n.2152A= | |
9 | g.132329631A>C | CA375337296 | SETX | c.1967T>G (p.Val656Gly) n.2151T>G | |
9 | g.132329631A>G | CA375337299 | SETX | c.1967T>C (p.Val656Ala) n.2151T>C | |
9 | g.132329631A>T | CA375337301 | SETX | c.1967T>A (p.Val656Glu) n.2151T>A | |
9 | g.132329632C>A | CA375337305 | SETX | c.1966G>T (p.Val656Leu) n.2150G>T | |
9 | g.132329632C= | CA1882149809 | SETX | c.1966G= (p.Val656=) n.2150G= | |
9 | g.132329632C>G | CA375337306 | SETX | c.1966G>C (p.Val656Leu) n.2150G>C | |
9 | g.132329632C>T | CA5297688 | SETX | c.1966G>A (p.Val656Ile) n.2150G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329633A>C | CA375337312 | SETX | c.1965T>G (p.Ser655Arg) n.2149T>G | |
9 | g.132329633A>G | CA467808920 | SETX | c.1965T>C (p.Ser655=) n.2149T>C | gnomAD v4 |
9 | g.132329633A>T | CA375337310 | SETX | c.1965T>A (p.Ser655Arg) n.2149T>A | |
9 | g.132329634C>A | CA375337315 | SETX | c.1964G>T (p.Ser655Ile) n.2148G>T | |
9 | g.132329634C= | CA1882149812 | SETX | c.1964G= (p.Ser655=) n.2148G= | |
9 | g.132329634C>G | CA375337316 | SETX | c.1964G>C (p.Ser655Thr) n.2148G>C | ClinVar |
9 | g.132329634C>T | CA375337318 | SETX | c.1964G>A (p.Ser655Asn) n.2148G>A | dbSNP gnomAD v4 |
9 | g.132329635T>A | CA375337320 | SETX | c.1963A>T (p.Ser655Cys) n.2147A>T | |
9 | g.132329635T>C | CA375337321 | SETX | c.1963A>G (p.Ser655Gly) n.2147A>G | |
9 | g.132329635T>G | CA375337322 | SETX | c.1963A>C (p.Ser655Arg) n.2147A>C | |
9 | g.132329636G>A | CA200813460 | SETX | c.1962C>T (p.Asp654=) n.2146C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132329636G>C | CA375337323 | SETX | c.1962C>G (p.Asp654Glu) n.2146C>G | |
9 | g.132329636G= | CA1882149816 | SETX | c.1962C= (p.Asp654=) n.2146C= | |
9 | g.132329636G>T | CA375337326 | SETX | c.1962C>A (p.Asp654Glu) n.2146C>A | |
9 | g.132329636_132329637insGATCAAT | CA2786130884 | SETX | c.1961_1962insATTGATC (p.Asp654GlufsTer11) n.2145_2146insATTGATC | |
9 | g.132329637T>A | CA375337328 | SETX | c.1961A>T (p.Asp654Val) n.2145A>T | |
9 | g.132329637T>C | CA375337332 | SETX | c.1961A>G (p.Asp654Gly) n.2145A>G | |
9 | g.132329637T>G | CA375337334 | SETX | c.1961A>C (p.Asp654Ala) n.2145A>C | |
9 | g.132329638C>A | CA375337336 | SETX | c.1960G>T (p.Asp654Tyr) n.2144G>T | gnomAD v4 |
9 | g.132329638C>G | CA375337338 | SETX | c.1960G>C (p.Asp654His) n.2144G>C | |
9 | g.132329638C>T | CA375337340 | SETX | c.1960G>A (p.Asp654Asn) n.2144G>A | ClinVar gnomAD v4 |
9 | g.132329639T>A | CA375337343 | SETX | c.1959A>T (p.Gln653His) n.2143A>T | |
9 | g.132329639T>C | CA467808921 | SETX | c.1959A>G (p.Gln653=) n.2143A>G | |
9 | g.132329639T>G | CA375337345 | SETX | c.1959A>C (p.Gln653His) n.2143A>C | |
9 | g.132329640T>A | CA375337348 | SETX | c.1958A>T (p.Gln653Leu) n.2142A>T | |
9 | g.132329640T>C | CA375337350 | SETX | c.1958A>G (p.Gln653Arg) n.2142A>G | |
9 | g.132329640T>G | CA375337353 | SETX | c.1958A>C (p.Gln653Pro) n.2142A>C | |
9 | g.132329640_132329641insTACCATCAACATGAAATTCCT | CA2786130885 | SETX | c.1958_1959insGGAATTTCATGTTGATGGTAA (p.Gln653_Asp654insGluPheHisValAspGlyLys) n.2142_2143insGGAATTTCATGTTGATGGTAA | |
9 | g.132329641G>A | CA375337355 | SETX | c.1957C>T (p.Gln653Ter) n.2141C>T | |
9 | g.132329641G>C | CA375337358 | SETX | c.1957C>G (p.Gln653Glu) n.2141C>G | |
9 | g.132329641G= | CA1882149822 | SETX | c.1957C= (p.Gln653=) n.2141C= | |
9 | g.132329641G>T | CA027112 | SETX | c.1957C>A (p.Gln653Lys) n.2141C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.[132329641G>T;132329791T>C] | CA027283 | SETX | c.[1807A>G;1957C>A] (p.[Asn603Asp;Gln653Lys]) n.[1991A>G;2141C>A] | |
9 | g.132329642C>A | CA467808922 | SETX | c.1956G>T (p.Val652=) n.2140G>T | |
9 | g.132329642C= | CA1882149828 | SETX | c.1956G= (p.Val652=) n.2140G= | |
9 | g.132329642C>G | CA467808923 | SETX | c.1956G>C (p.Val652=) n.2140G>C | |
9 | g.132329642C>T | CA5297689 | SETX | c.1956G>A (p.Val652=) n.2140G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.132329643A>C | CA375337374 | SETX | c.1955T>G (p.Val652Gly) n.2139T>G | |
9 | g.132329643A>G | CA375337376 | SETX | c.1955T>C (p.Val652Ala) n.2139T>C | |
9 | g.132329643A>T | CA375337380 | SETX | c.1955T>A (p.Val652Glu) n.2139T>A | |
9 | g.132329644C>A | CA375337387 | SETX | c.1954G>T (p.Val652Leu) n.2138G>T | |
9 | g.132329644C>G | CA375337390 | SETX | c.1954G>C (p.Val652Leu) n.2138G>C | |
9 | g.132329644C>T | CA375337391 | SETX | c.1954G>A (p.Val652Met) n.2138G>A | gnomAD v4 |
9 | g.132329645T>A | CA375337393 | SETX | c.1953A>T (p.Lys651Asn) n.2137A>T | |
9 | g.132329645T>C | CA467808924 | SETX | c.1953A>G (p.Lys651=) n.2137A>G | |
9 | g.132329645T>G | CA375337392 | SETX | c.1953A>C (p.Lys651Asn) n.2137A>C | |
9 | g.132329646T>A | CA375337396 | SETX | c.1952A>T (p.Lys651Ile) n.2136A>T | |
9 | g.132329646T>C | CA375337402 | SETX | c.1952A>G (p.Lys651Arg) n.2136A>G | |
9 | g.132329646T>G | CA375337398 | SETX | c.1952A>C (p.Lys651Thr) n.2136A>C | |
9 | g.132329647T>A | CA375337405 | SETX | c.1951A>T (p.Lys651Ter) n.2135A>T | gnomAD v4 |
9 | g.132329647T>C | CA200813491 | SETX | c.1951A>G (p.Lys651Glu) n.2135A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.132329647T>G | CA375337409 | SETX | c.1951A>C (p.Lys651Gln) n.2135A>C | |
9 | g.132329647T= | CA1882149833 | SETX | c.1951A= (p.Lys651=) n.2135A= | |
9 | g.132329648C>A | CA375337417 | SETX | c.1950G>T (p.Met650Ile) n.2134G>T | COSMIC COSMIC |
9 | g.132329648C>G | CA375337422 | SETX | c.1950G>C (p.Met650Ile) n.2134G>C | |
9 | g.132329648C>T | CA375337419 | SETX | c.1950G>A (p.Met650Ile) n.2134G>A | COSMIC COSMIC |
9 | g.132329649A>C | CA375337429 | SETX | c.1949T>G (p.Met650Arg) n.2133T>G | gnomAD v4 |
9 | g.132329649A>G | CA375337432 | SETX | c.1949T>C (p.Met650Thr) n.2133T>C | |
9 | g.132329649A>T | CA375337435 | SETX | c.1949T>A (p.Met650Lys) n.2133T>A | |
9 | g.132329650T>A | CA375337439 | SETX | c.1948A>T (p.Met650Leu) n.2132A>T | |
9 | g.132329650T>C | CA5297690 | SETX | c.1948A>G (p.Met650Val) n.2132A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329650T>G | CA375337443 | SETX | c.1948A>C (p.Met650Leu) n.2132A>C | |
9 | g.132329650T= | CA1882149840 | SETX | c.1948A= (p.Met650=) n.2132A= | |
9 | g.132329651T>A | CA467808925 | SETX | c.1947A>T (p.Pro649=) n.2131A>T | |
9 | g.132329651T>C | CA5297691 | SETX | c.1947A>G (p.Pro649=) n.2131A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132329651T>G | CA467808926 | SETX | c.1947A>C (p.Pro649=) n.2131A>C | |
9 | g.132329651T= | CA1882149843 | SETX | c.1947A= (p.Pro649=) n.2131A= | |
9 | g.132329652G>A | CA375337469 | SETX | c.1946C>T (p.Pro649Leu) n.2130C>T | |
9 | g.132329652G>C | CA375337472 | SETX | c.1946C>G (p.Pro649Arg) n.2130C>G | gnomAD v4 |
9 | g.132329652G>T | CA375337476 | SETX | c.1946C>A (p.Pro649Gln) n.2130C>A | |
9 | g.132329653G>A | CA375337484 | SETX | c.1945C>T (p.Pro649Ser) n.2129C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132329653G>C | CA375337480 | SETX | c.1945C>G (p.Pro649Ala) n.2129C>G | |
9 | g.132329653G= | CA1882149846 | SETX | c.1945C= (p.Pro649=) n.2129C= | |
9 | g.132329653G>T | CA375337482 | SETX | c.1945C>A (p.Pro649Thr) n.2129C>A | |
9 | g.132329653_132329656delinsGTTC | CA1882149848 | SETX | c.1942_1945delinsGAAC (p.Glu648=) n.2126_2129delinsGAAC | |
9 | g.132329654T>A | CA375337485 | SETX | c.1944A>T (p.Glu648Asp) n.2128A>T | |
9 | g.132329654T>C | CA467808927 | SETX | c.1944A>G (p.Glu648=) n.2128A>G | gnomAD v4 COSMIC COSMIC |
9 | g.132329654T>G | CA375337486 | SETX | c.1944A>C (p.Glu648Asp) n.2128A>C | |
9 | g.132329656_132329658del | CA860624785 | SETX | c.1942_1944del (p.Glu648del) n.2126_2128del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.132329655T>A | CA375337487 | SETX | c.1943A>T (p.Glu648Val) n.2127A>T | |
9 | g.132329655T>C | CA375337488 | SETX | c.1943A>G (p.Glu648Gly) n.2127A>G | |
9 | g.132329655T>G | CA375337489 | SETX | c.1943A>C (p.Glu648Ala) n.2127A>C | |
9 | g.132329656C>A | CA375337491 | SETX | c.1942G>T (p.Glu648Ter) n.2126G>T | |
9 | g.132329656C= | CA1882149854 | SETX | c.1942G= (p.Glu648=) n.2126G= | |
9 | g.132329656C>G | CA375337501 | SETX | c.1942G>C (p.Glu648Gln) n.2126G>C | |
9 | g.132329656C>T | CA375337503 | SETX | c.1942G>A (p.Glu648Lys) n.2126G>A | dbSNP |
9 | g.132329657T>A | CA375337507 | SETX | c.1941A>T (p.Lys647Asn) n.2125A>T | |
9 | g.132329657T>C | CA467808928 | SETX | c.1941A>G (p.Lys647=) n.2125A>G | |
9 | g.132329657T>G | CA375337509 | SETX | c.1941A>C (p.Lys647Asn) n.2125A>C | |
9 | g.132329658T>A | CA375337516 | SETX | c.1940A>T (p.Lys647Ile) n.2124A>T | |
9 | g.132329658T>C | CA375337517 | SETX | c.1940A>G (p.Lys647Arg) n.2124A>G | gnomAD v4 |
9 | g.132329658T>G | CA375337513 | SETX | c.1940A>C (p.Lys647Thr) n.2124A>C | |
9 | g.132329659T>A | CA375337518 | SETX | c.1939A>T (p.Lys647Ter) n.2123A>T | |
9 | g.132329659T>C | CA375337519 | SETX | c.1939A>G (p.Lys647Glu) n.2123A>G | |
9 | g.132329659T>G | CA375337520 | SETX | c.1939A>C (p.Lys647Gln) n.2123A>C | |
9 | g.132329660A>C | CA467808929 | SETX | c.1938T>G (p.Ser646=) n.2122T>G | |
9 | g.132329660A>G | CA467808930 | SETX | c.1938T>C (p.Ser646=) n.2122T>C | |
9 | g.132329660A>T | CA467808931 | SETX | c.1938T>A (p.Ser646=) n.2122T>A | |
9 | g.132329661G>A | CA5297692 | SETX | c.1937C>T (p.Ser646Phe) n.2121C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329661G>C | CA375337526 | SETX | c.1937C>G (p.Ser646Cys) n.2121C>G | |
9 | g.132329661G= | CA1882149856 | SETX | c.1937C= (p.Ser646=) n.2121C= | |
9 | g.132329661G>T | CA375337529 | SETX | c.1937C>A (p.Ser646Tyr) n.2121C>A | |
9 | g.132329662A>C | CA375337531 | SETX | c.1936T>G (p.Ser646Ala) n.2120T>G | |
9 | g.132329662A>G | CA375337533 | SETX | c.1936T>C (p.Ser646Pro) n.2120T>C | |
9 | g.132329662A>T | CA375337535 | SETX | c.1936T>A (p.Ser646Thr) n.2120T>A | |
9 | g.132329663A>C | CA375337536 | SETX | c.1935T>G (p.Phe645Leu) n.2119T>G | |
9 | g.132329663A>G | CA467808932 | SETX | c.1935T>C (p.Phe645=) n.2119T>C | |
9 | g.132329663A>T | CA375337537 | SETX | c.1935T>A (p.Phe645Leu) n.2119T>A | |
9 | g.132329664A>C | CA375337540 | SETX | c.1934T>G (p.Phe645Cys) n.2118T>G | |
9 | g.132329664A>G | CA375337539 | SETX | c.1934T>C (p.Phe645Ser) n.2118T>C | |
9 | g.132329664A>T | CA375337538 | SETX | c.1934T>A (p.Phe645Tyr) n.2118T>A | ClinVar dbSNP |
9 | g.132329665A= | CA1882149862 | SETX | c.1933T= (p.Phe645=) n.2117T= | |
9 | g.132329665A>C | CA375337543 | SETX | c.1933T>G (p.Phe645Val) n.2117T>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132329665A>G | CA375337557 | SETX | c.1933T>C (p.Phe645Leu) n.2117T>C | |
9 | g.132329665A>T | CA375337560 | SETX | c.1933T>A (p.Phe645Ile) n.2117T>A | |
9 | g.132329666T>A | CA467808933 | SETX | c.1932A>T (p.Thr644=) n.2116A>T | |
9 | g.132329666T>C | CA5297693 | SETX | c.1932A>G (p.Thr644=) n.2116A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329666T>G | CA467808934 | SETX | c.1932A>C (p.Thr644=) n.2116A>C | |
9 | g.132329666T= | CA1882149866 | SETX | c.1932A= (p.Thr644=) n.2116A= | |
9 | g.132329667G>A | CA375337564 | SETX | c.1931C>T (p.Thr644Ile) n.2115C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132329667G>C | CA375337565 | SETX | c.1931C>G (p.Thr644Arg) n.2115C>G | |
9 | g.132329667G= | CA1882149868 | SETX | c.1931C= (p.Thr644=) n.2115C= | |
9 | g.132329667G>T | CA375337566 | SETX | c.1931C>A (p.Thr644Lys) n.2115C>A | |
9 | g.132329668T>A | CA375337569 | SETX | c.1930A>T (p.Thr644Ser) n.2114A>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132329668T>C | CA375337577 | SETX | c.1930A>G (p.Thr644Ala) n.2114A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329668T>G | CA375337580 | SETX | c.1930A>C (p.Thr644Pro) n.2114A>C | |
9 | g.132329668T= | CA1882149872 | SETX | c.1930A= (p.Thr644=) n.2114A= | |
9 | g.132329669T>A | CA467808940 | SETX | c.1929A>T (p.Pro643=) n.2113A>T | |
9 | g.132329669T>C | CA467808938 | SETX | c.1929A>G (p.Pro643=) n.2113A>G | |
9 | g.132329669T>G | CA467808939 | SETX | c.1929A>C (p.Pro643=) n.2113A>C | dbSNP gnomAD v4 |
9 | g.132329669T= | CA1882149877 | SETX | c.1929A= (p.Pro643=) n.2113A= | |
9 | g.132329670G>A | CA375337587 | SETX | c.1928C>T (p.Pro643Leu) n.2112C>T | |
9 | g.132329670G>C | CA375337590 | SETX | c.1928C>G (p.Pro643Arg) n.2112C>G | |
9 | g.132329670G>T | CA375337593 | SETX | c.1928C>A (p.Pro643Gln) n.2112C>A | |
9 | g.132329671G>A | CA375337595 | SETX | c.1927C>T (p.Pro643Ser) n.2111C>T | |
9 | g.132329671G>C | CA375337596 | SETX | c.1927C>G (p.Pro643Ala) n.2111C>G | |
9 | g.132329671G>T | CA375337594 | SETX | c.1927C>A (p.Pro643Thr) n.2111C>A | |
9 | g.132329672G>A | CA467808941 | SETX | c.1926C>T (p.Ser642=) n.2110C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329672G>C | CA375337599 | SETX | c.1926C>G (p.Ser642Arg) n.2110C>G | |
9 | g.132329672G= | CA1882149882 | SETX | c.1926C= (p.Ser642=) n.2110C= | |
9 | g.132329672G>T | CA375337603 | SETX | c.1926C>A (p.Ser642Arg) n.2110C>A | gnomAD v4 |
9 | g.132329673C>A | CA375337605 | SETX | c.1925G>T (p.Ser642Ile) n.2109G>T | |
9 | g.132329673C>G | CA375337614 | SETX | c.1925G>C (p.Ser642Thr) n.2109G>C | |
9 | g.132329673C>T | CA375337618 | SETX | c.1925G>A (p.Ser642Asn) n.2109G>A | |
9 | g.132329674T>A | CA375337635 | SETX | c.1924A>T (p.Ser642Cys) n.2108A>T | |
9 | g.132329674T>C | CA5297694 | SETX | c.1924A>G (p.Ser642Gly) n.2108A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132329674T>G | CA375337625 | SETX | c.1924A>C (p.Ser642Arg) n.2108A>C | |
9 | g.132329674T= | CA1882149887 | SETX | c.1924A= (p.Ser642=) n.2108A= | |
9 | g.132329675G>A | CA200813516 | SETX | c.1923C>T (p.Ser641=) n.2107C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329675G>C | CA467808942 | SETX | c.1923C>G (p.Ser641=) n.2107C>G | |
9 | g.132329675G= | CA1882149892 | SETX | c.1923C= (p.Ser641=) n.2107C= | |
9 | g.132329675G>T | CA467808944 | SETX | c.1923C>A (p.Ser641=) n.2107C>A | gnomAD v4 |
9 | g.132329676G>A | CA375337638 | SETX | c.1922C>T (p.Ser641Phe) n.2106C>T | |
9 | g.132329676G>C | CA10626636 | SETX | c.1922C>G (p.Ser641Cys) n.2106C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329676G= | CA1882149896 | SETX | c.1922C= (p.Ser641=) n.2106C= | |
9 | g.132329676G>T | CA375337639 | SETX | c.1922C>A (p.Ser641Tyr) n.2106C>A | |
9 | g.132329677A>C | CA375337641 | SETX | c.1921T>G (p.Ser641Ala) n.2105T>G | |
9 | g.132329677A>G | CA375337643 | SETX | c.1921T>C (p.Ser641Pro) n.2105T>C | |
9 | g.132329677A>T | CA375337645 | SETX | c.1921T>A (p.Ser641Thr) n.2105T>A | gnomAD v4 |
9 | g.132329678A>C | CA467808947 | SETX | c.1920T>G (p.Ala640=) n.2104T>G | |
9 | g.132329678A>G | CA467808946 | SETX | c.1920T>C (p.Ala640=) n.2104T>C | |
9 | g.132329678A>T | CA467808945 | SETX | c.1920T>A (p.Ala640=) n.2104T>A | |
9 | g.132329679G>A | CA375337667 | SETX | c.1919C>T (p.Ala640Val) n.2103C>T | |
9 | g.132329679G>C | CA200813534 | SETX | c.1919C>G (p.Ala640Gly) n.2103C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329679G= | CA1882149903 | SETX | c.1919C= (p.Ala640=) n.2103C= | |
9 | g.132329679G>T | CA375337666 | SETX | c.1919C>A (p.Ala640Asp) n.2103C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329680C>A | CA375337669 | SETX | c.1918G>T (p.Ala640Ser) n.2102G>T | |
9 | g.132329680C= | CA1882149908 | SETX | c.1918G= (p.Ala640=) n.2102G= | |
9 | g.132329680C>G | CA375337671 | SETX | c.1918G>C (p.Ala640Pro) n.2102G>C | |
9 | g.132329680C>T | CA375337673 | SETX | c.1918G>A (p.Ala640Thr) n.2102G>A | dbSNP |
9 | g.132329681T>A | CA375337674 | SETX | c.1917A>T (p.Glu639Asp) n.2101A>T | |
9 | g.132329681T>C | CA467808949 | SETX | c.1917A>G (p.Glu639=) n.2101A>G | |
9 | g.132329681T>G | CA375337675 | SETX | c.1917A>C (p.Glu639Asp) n.2101A>C | |
9 | g.132329682T>A | CA375337676 | SETX | c.1916A>T (p.Glu639Val) n.2100A>T | |
9 | g.132329682T>C | CA375337677 | SETX | c.1916A>G (p.Glu639Gly) n.2100A>G | |
9 | g.132329682T>G | CA375337678 | SETX | c.1916A>C (p.Glu639Ala) n.2100A>C | |
9 | g.132329683C>A | CA375337679 | SETX | c.1915G>T (p.Glu639Ter) n.2099G>T | |
9 | g.132329683C>G | CA375337680 | SETX | c.1915G>C (p.Glu639Gln) n.2099G>C | gnomAD v4 |
9 | g.132329683C>T | CA375337681 | SETX | c.1915G>A (p.Glu639Lys) n.2099G>A | |
9 | g.132329684C>A | CA375337684 | SETX | c.1914G>T (p.Leu638Phe) n.2098G>T | |
9 | g.132329684C= | CA1882149913 | SETX | c.1914G= (p.Leu638=) n.2098G= | |
9 | g.132329684C>G | CA375337689 | SETX | c.1914G>C (p.Leu638Phe) n.2098G>C | |
9 | g.132329684C>T | CA467808950 | SETX | c.1914G>A (p.Leu638=) n.2098G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329685A>C | CA375337692 | SETX | c.1913T>G (p.Leu638Trp) n.2097T>G | |
9 | g.132329685A>G | CA375337706 | SETX | c.1913T>C (p.Leu638Ser) n.2097T>C | |
9 | g.132329685A>T | CA375337693 | SETX | c.1913T>A (p.Leu638Ter) n.2097T>A | |
9 | g.132329687del | CA2579491651 | SETX | c.1913del (p.Leu638TrpfsTer13) n.2097del | |
9 | g.132329686A>C | CA375337711 | SETX | c.1912T>G (p.Leu638Val) n.2096T>G | |
9 | g.132329686A>G | CA467808952 | SETX | c.1912T>C (p.Leu638=) n.2096T>C | |
9 | g.132329686A>T | CA375337713 | SETX | c.1912T>A (p.Leu638Met) n.2096T>A | |
9 | g.132329687A>C | CA375337716 | SETX | c.1911T>G (p.Cys637Trp) n.2095T>G | |
9 | g.132329687A>G | CA467808953 | SETX | c.1911T>C (p.Cys637=) n.2095T>C | |
9 | g.132329687A>T | CA375337723 | SETX | c.1911T>A (p.Cys637Ter) n.2095T>A | |
9 | g.132329688C>A | CA375337726 | SETX | c.1910G>T (p.Cys637Phe) n.2094G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132329688C= | CA1882149917 | SETX | c.1910G= (p.Cys637=) n.2094G= | |
9 | g.132329688C>G | CA375337728 | SETX | c.1910G>C (p.Cys637Ser) n.2094G>C | |
9 | g.132329688C>T | CA200813537 | SETX | c.1910G>A (p.Cys637Tyr) n.2094G>A | ClinVar dbSNP gnomAD v4 |
9 | g.132329689A= | CA1882149922 | SETX | c.1909T= (p.Cys637=) n.2093T= | |
9 | g.132329689A>C | CA375337749 | SETX | c.1909T>G (p.Cys637Gly) n.2093T>G | |
9 | g.132329689A>G | CA5297695 | SETX | c.1909T>C (p.Cys637Arg) n.2093T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132329689A>T | CA375337751 | SETX | c.1909T>A (p.Cys637Ser) n.2093T>A | |
9 | g.132329690A= | CA1882149925 | SETX | c.1908T= (p.His636=) n.2092T= | |
9 | g.132329690A>C | CA375337754 | SETX | c.1908T>G (p.His636Gln) n.2092T>G | |
9 | g.132329690A>G | CA5297696 | SETX | c.1908T>C (p.His636=) n.2092T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132329690A>T | CA375337758 | SETX | c.1908T>A (p.His636Gln) n.2092T>A | |
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= |