Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53378099A>T | CA2693802235 | SMC1A | c.*2004T>A (n.*2004T>A) | gnomAD v4 |
X | g.53378100C>A | CA2693802236 | SMC1A | c.*2003G>T (n.*2003G>T) | gnomAD v4 |
X | g.53378100C= | CA2429816152 | SMC1A | c.*2003G= (n.*2003G=) | |
X | g.53378100C>T | CA1133194534 | SMC1A | c.*2003G>A (n.*2003G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378105G= | CA2429816153 | SMC1A | c.*1998C= (n.*1998C=) | |
X | g.53378105G>T | CA2429816154 | SMC1A | c.*1998C>A (n.*1998C>A) | dbSNP gnomAD v4 |
X | g.53378107T>C | CA329905947 | SMC1A | c.*1996A>G (n.*1996A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378107T= | CA2429816155 | SMC1A | c.*1996A= (n.*1996A=) | |
X | g.53378114C>A | CA2693802237 | SMC1A | c.*1989G>T (n.*1989G>T) | gnomAD v4 |
X | g.53378122dup | CA2820953183 | SMC1A | c.*1985dup (n.*1985dup) | |
X | g.53378125C>A | CA2693802238 | SMC1A | c.*1978G>T (n.*1978G>T) | gnomAD v4 |
X | g.53378127G>A | CA1133194536 | SMC1A | c.*1976C>T (n.*1976C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378127G= | CA2429816156 | SMC1A | c.*1976C= (n.*1976C=) | |
X | g.53378130T>C | CA2429816158 | SMC1A | c.*1973A>G (n.*1973A>G) | dbSNP |
X | g.53378130T= | CA2429816157 | SMC1A | c.*1973A= (n.*1973A=) | |
X | g.53378133A= | CA2429816159 | SMC1A | c.*1970T= (n.*1970T=) | |
X | g.53378133A>G | CA2429816160 | SMC1A | c.*1970T>C (n.*1970T>C) | dbSNP |
X | g.53378134T>C | CA876268831 | SMC1A | c.*1969A>G (n.*1969A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378134T= | CA2429816161 | SMC1A | c.*1969A= (n.*1969A=) | |
X | g.53378136G>A | CA1139667582 | SMC1A | c.*1967C>T (n.*1967C>T) | ClinVar dbSNP |
X | g.53378136G= | CA2429816162 | SMC1A | c.*1967C= (n.*1967C=) | |
X | g.53378136G>T | CA2693802239 | SMC1A | c.*1967C>A (n.*1967C>A) | gnomAD v4 |
X | g.53378139C>A | CA2693802240 | SMC1A | c.*1964G>T (n.*1964G>T) | gnomAD v4 |
X | g.53378140A= | CA2429816163 | SMC1A | c.*1963T= (n.*1963T=) | |
X | g.53378140A>G | CA329905948 | SMC1A | c.*1963T>C (n.*1963T>C) | dbSNP gnomAD v3 |
X | g.53378142G>A | CA10646336 | SMC1A | c.*1961C>T (n.*1961C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378142G>C | CA2820953184 | SMC1A | c.*1961C>G (n.*1961C>G) | |
X | g.53378142G= | CA2429816164 | SMC1A | c.*1961C= (n.*1961C=) | |
X | g.53378142G>T | CA2561210790 | SMC1A | c.*1961C>A (n.*1961C>A) | |
X | g.53378143del | CA2518054450 | SMC1A | c.*1960del (n.*1960del) | |
X | g.53378146del | CA2515280530 | SMC1A | c.*1959del (n.*1959del) | |
X | g.53378145G>C | CA876268834 | SMC1A | c.*1958C>G (n.*1958C>G) | dbSNP |
X | g.53378145G= | CA2429816165 | SMC1A | c.*1958C= (n.*1958C=) | |
X | g.53378146G>A | CA2693802241 | SMC1A | c.*1957C>T (n.*1957C>T) | gnomAD v4 |
X | g.53378146G>T | CA2693802242 | SMC1A | c.*1957C>A (n.*1957C>A) | gnomAD v4 |
X | g.53378147C>A | CA2693802243 | SMC1A | c.*1956G>T (n.*1956G>T) | gnomAD v4 |
X | g.53378151T>C | CA876268836 | SMC1A | c.*1952A>G (n.*1952A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378151T= | CA2429816166 | SMC1A | c.*1952A= (n.*1952A=) | |
X | g.53378152T>C | CA2558546342 | SMC1A | c.*1951A>G (n.*1951A>G) | |
X | g.53378155A>G | CA2820953185 | SMC1A | c.*1948T>C (n.*1948T>C) | |
X | g.53378157G>T | CA2693802244 | SMC1A | c.*1946C>A (n.*1946C>A) | gnomAD v4 |
X | g.53378157_53378160delinsGTAT | CA2429816167 | SMC1A | c.*1943_*1946delinsATAC (n.*1943_*1946delinsATAC) | |
X | g.53378158T>C | CA2820953186 | SMC1A | c.*1945A>G (n.*1945A>G) | |
X | g.53378163_53378165del | CA516551626 | SMC1A | c.*1943_*1945del (n.*1943_*1945del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378159A>G | CA2521507762 | SMC1A | c.*1944T>C (n.*1944T>C) | |
X | g.53378163T>C | CA329905949 | SMC1A | c.*1940A>G (n.*1940A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378163T= | CA2429816168 | SMC1A | c.*1940A= (n.*1940A=) | |
X | g.53378168_53378169del | CA2527142370 | SMC1A | c.*1937_*1938del (n.*1937_*1938del) | |
X | g.53378169A= | CA2429816169 | SMC1A | c.*1934T= (n.*1934T=) | |
X | g.53378169A>G | CA876268839 | SMC1A | c.*1934T>C (n.*1934T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53378173A>G | CA2693802245 | SMC1A | c.*1930T>C (n.*1930T>C) | gnomAD v4 |
X | g.53378176T>G | CA876268851 | SMC1A | c.*1927A>C (n.*1927A>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378176T= | CA2429816170 | SMC1A | c.*1927A= (n.*1927A=) | |
X | g.53378183A>T | CA2820953187 | SMC1A | c.*1920T>A (n.*1920T>A) | |
X | g.53378188_53378189del | CA2820953188 | SMC1A | c.*1915_*1916del (n.*1915_*1916del) | |
X | g.53378188A= | CA2429816171 | SMC1A | c.*1915T= (n.*1915T=) | |
X | g.53378188A>G | CA876268853 | SMC1A | c.*1915T>C (n.*1915T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378189T>C | CA329905950 | SMC1A | c.*1914A>G (n.*1914A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378189T= | CA2429816172 | SMC1A | c.*1914A= (n.*1914A=) | |
X | g.53378192C= | CA2429816173 | SMC1A | c.*1911G= (n.*1911G=) | |
X | g.53378192C>T | CA2429816174 | SMC1A | c.*1911G>A (n.*1911G>A) | dbSNP |
X | g.53378197C>T | CA2693802246 | SMC1A | c.*1906G>A (n.*1906G>A) | gnomAD v4 |
X | g.53378198A>G | CA2693802247 | SMC1A | c.*1905T>C (n.*1905T>C) | gnomAD v4 |