| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53378142G>A | CA10646336 | SMC1A | c.*1961C>T (n.*1961C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.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.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.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 |
| X | g.53378202C>A | CA2693802248 | SMC1A | c.*1901G>T (n.*1901G>T) | gnomAD v4 |
| X | g.53378203C>A | CA2693802249 | SMC1A | c.*1900G>T (n.*1900G>T) | gnomAD v4 |
| X | g.53378205C= | CA2429816175 | SMC1A | c.*1898G= (n.*1898G=) | |
| X | g.53378205C>T | CA329905951 | SMC1A | c.*1898G>A (n.*1898G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53378206T>G | CA1133194549 | SMC1A | c.*1897A>C (n.*1897A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53378206T= | CA2429816176 | SMC1A | c.*1897A= (n.*1897A=) | |
| X | g.53378211G>T | CA2693802250 | SMC1A | c.*1892C>A (n.*1892C>A) | gnomAD v4 |
| X | g.53378212G>A | CA1133194550 | SMC1A | c.*1891C>T (n.*1891C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53378212G= | CA2429816177 | SMC1A | c.*1891C= (n.*1891C=) | |
| X | g.53378212G>T | CA2512477834 | SMC1A | c.*1891C>A (n.*1891C>A) | |
| X | g.53378214A>G | CA2693802251 | SMC1A | c.*1889T>C (n.*1889T>C) | gnomAD v4 |
| X | g.53378221C>A | CA2693802252 | SMC1A | c.*1882G>T (n.*1882G>T) | gnomAD v4 |
| X | g.53378222T>G | CA1133194553 | SMC1A | c.*1881A>C (n.*1881A>C) | dbSNP |
| X | g.53378222T= | CA2429816178 | SMC1A | c.*1881A= (n.*1881A=) | |
| X | g.53378225del | CA2693802253 | SMC1A | c.*1879del (n.*1879del) | gnomAD v4 |
| X | g.53378225G>A | CA876268861 | SMC1A | c.*1878C>T (n.*1878C>T) | dbSNP |
| X | g.53378225G= | CA2429816179 | SMC1A | c.*1878C= (n.*1878C=) |