Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
X | g.53378229A>T | CA2820953190 | SMC1A | c.*1874T>A (n.*1874T>A) | |
X | g.53378234C>A | CA2693802254 | SMC1A | c.*1869G>T (n.*1869G>T) | gnomAD v4 |
X | g.53378235A= | CA2429816180 | SMC1A | c.*1868T= (n.*1868T=) | |
X | g.53378235A>G | CA876268868 | SMC1A | c.*1868T>C (n.*1868T>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378236T>C | CA2429816182 | SMC1A | c.*1867A>G (n.*1867A>G) | dbSNP gnomAD v4 |
X | g.53378236T= | CA2429816181 | SMC1A | c.*1867A= (n.*1867A=) | |
X | g.53378242T>A | CA876268878 | SMC1A | c.*1861A>T (n.*1861A>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378242T= | CA2429816183 | SMC1A | c.*1861A= (n.*1861A=) | |
X | g.53378245T>C | CA658090780 | SMC1A | c.*1858A>G (n.*1858A>G) | COSMIC |
X | g.53378248C>G | CA2820953191 | SMC1A | c.*1855G>C (n.*1855G>C) | |
X | g.53378248C>T | CA2693802255 | SMC1A | c.*1855G>A (n.*1855G>A) | gnomAD v4 |
X | g.53378251A= | CA2429816184 | SMC1A | c.*1852T= (n.*1852T=) | |
X | g.53378251A>G | CA2429816185 | SMC1A | c.*1852T>C (n.*1852T>C) | dbSNP |
X | g.53378252C= | CA2429816186 | SMC1A | c.*1851G= (n.*1851G=) | |
X | g.53378252C>T | CA2429816187 | SMC1A | c.*1851G>A (n.*1851G>A) | dbSNP |
X | g.53378253A>C | CA2820953192 | SMC1A | c.*1850T>G (n.*1850T>G) | |
X | g.53378253A>G | CA2693802256 | SMC1A | c.*1850T>C (n.*1850T>C) | gnomAD v4 |
X | g.53378265G>T | CA2693802257 | SMC1A | c.*1838C>A (n.*1838C>A) | gnomAD v4 |
X | g.53378266C>T | CA2693802258 | SMC1A | c.*1837G>A (n.*1837G>A) | gnomAD v4 |
X | g.53378268C>G | CA2820953194 | SMC1A | c.*1835G>C (n.*1835G>C) | |
X | g.53378271G>A | CA876268879 | SMC1A | c.*1832C>T (n.*1832C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378271G= | CA2429816188 | SMC1A | c.*1832C= (n.*1832C=) | |
X | g.53378272T>G | CA876268882 | SMC1A | c.*1831A>C (n.*1831A>C) | dbSNP |
X | g.53378272T= | CA2429816189 | SMC1A | c.*1831A= (n.*1831A=) | |
X | g.53378275A>G | CA2693802259 | SMC1A | c.*1828T>C (n.*1828T>C) | gnomAD v4 |
X | g.53378276G>T | CA2693802260 | SMC1A | c.*1827C>A (n.*1827C>A) | gnomAD v4 |
X | g.53378277T>C | CA329905952 | SMC1A | c.*1826A>G (n.*1826A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378277T= | CA2429816190 | SMC1A | c.*1826A= (n.*1826A=) | |
X | g.53378283G>T | CA2693802261 | SMC1A | c.*1820C>A (n.*1820C>A) | gnomAD v4 |
X | g.53378287T>C | CA876268889 | SMC1A | c.*1816A>G (n.*1816A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378287T= | CA2429816191 | SMC1A | c.*1816A= (n.*1816A=) | |
X | g.53378288_53378289delinsAG | CA2429816192 | SMC1A | c.*1814_*1815delinsCT (n.*1814_*1815delinsCT) | |
X | g.53378289del | CA641884610 | SMC1A | c.*1814del (n.*1814del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378291A= | CA2429816193 | SMC1A | c.*1812T= (n.*1812T=) | |
X | g.53378291A>C | CA641884616 | SMC1A | c.*1812T>G (n.*1812T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53378297T>A | CA2693802262 | SMC1A | c.*1806A>T (n.*1806A>T) | gnomAD v4 |
X | g.53378301_53378303delinsAAC | CA2429816194 | SMC1A | c.*1800_*1802delinsGTT (n.*1800_*1802delinsGTT) | |
X | g.53378303_53378304del | CA876268908 | SMC1A | c.*1800_*1801del (n.*1800_*1801del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53378303C>A | CA2693802263 | SMC1A | c.*1800G>T (n.*1800G>T) | gnomAD v4 |
X | g.53378304A>G | CA2693802264 | SMC1A | c.*1799T>C (n.*1799T>C) | gnomAD v4 |
X | g.53378306T>A | CA329905953 | SMC1A | c.*1797A>T (n.*1797A>T) | dbSNP |
X | g.53378306T= | CA2429816195 | SMC1A | c.*1797A= (n.*1797A=) | |
X | g.53378307C>A | CA2820953196 | SMC1A | c.*1796G>T (n.*1796G>T) | |
X | g.53378310A>G | CA2693802265 | SMC1A | c.*1793T>C (n.*1793T>C) | gnomAD v4 |