Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52766049A= | CA1910256917 | MBL2 | c.*2088T= (n.*2088T=) | |
10 | g.52766049A>C | CA1910256918 | MBL2 | c.*2088T>G (n.*2088T>G) | dbSNP |
10 | g.52766050A>G | CA2609208853 | MBL2 | c.*2087T>C (n.*2087T>C) | gnomAD v4 |
10 | g.52766052T>C | CA2609208854 | MBL2 | c.*2085A>G (n.*2085A>G) | gnomAD v4 |
10 | g.52766053A= | CA1910256919 | MBL2 | c.*2084T= (n.*2084T=) | |
10 | g.52766053A>G | CA666356295 | MBL2 | c.*2084T>C (n.*2084T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766057del | CA2609208855 | MBL2 | c.*2084del (n.*2084del) | gnomAD v4 |
10 | g.52766054A= | CA1910256920 | MBL2 | c.*2083T= (n.*2083T=) | |
10 | g.52766054A>C | CA666356300 | MBL2 | c.*2083T>G (n.*2083T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766056A= | CA1910256921 | MBL2 | c.*2081T= (n.*2081T=) | |
10 | g.52766056A>G | CA666356302 | MBL2 | c.*2081T>C (n.*2081T>C) | dbSNP |
10 | g.52766060T>C | CA2788008559 | MBL2 | c.*2077A>G (n.*2077A>G) | |
10 | g.52766061C>T | CA2609208856 | MBL2 | c.*2076G>A (n.*2076G>A) | gnomAD v4 |
10 | g.52766067A= | CA1910256922 | MBL2 | c.*2070T= (n.*2070T=) | |
10 | g.52766067A>G | CA2788008562 | MBL2 | c.*2070T>C (n.*2070T>C) | |
10 | g.52766067A>T | CA1910256923 | MBL2 | c.*2070T>A (n.*2070T>A) | dbSNP |
10 | g.52766070G>A | CA10635892 | MBL2 | c.*2067C>T (n.*2067C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766070G= | CA1910256924 | MBL2 | c.*2067C= (n.*2067C=) | |
10 | g.52766071C>A | CA10635901 | MBL2 | c.*2066G>T (n.*2066G>T) | ClinVar dbSNP gnomAD v4 |
10 | g.52766071C= | CA1910256925 | MBL2 | c.*2066G= (n.*2066G=) | |
10 | g.52766072A>T | CA2609208857 | MBL2 | c.*2065T>A (n.*2065T>A) | gnomAD v4 |
10 | g.52766074T>C | CA666356317 | MBL2 | c.*2063A>G (n.*2063A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766074T= | CA1910256926 | MBL2 | c.*2063A= (n.*2063A=) | |
10 | g.52766075del | CA2556103517 | MBL2 | c.*2063del (n.*2063del) | |
10 | g.52766078G>C | CA928435664 | MBL2 | c.*2059C>G (n.*2059C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766078G= | CA1910256927 | MBL2 | c.*2059C= (n.*2059C=) | |
10 | g.52766079T>G | CA2609208858 | MBL2 | c.*2058A>C (n.*2058A>C) | gnomAD v4 |
10 | g.52766080_52766084delinsTAAAG | CA1910256928 | MBL2 | c.*2053_*2057delinsCTTTA (n.*2053_*2057delinsCTTTA) | |
10 | g.52766081A= | CA1910256929 | MBL2 | c.*2056T= (n.*2056T=) | |
10 | g.52766081A>C | CA928435667 | MBL2 | c.*2056T>G (n.*2056T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766081A>G | CA1910256930 | MBL2 | c.*2056T>C (n.*2056T>C) | dbSNP |
10 | g.52766084_52766087del | CA593571542 | MBL2 | c.*2053_*2056del (n.*2053_*2056del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766082A= | CA1910256931 | MBL2 | c.*2055T= (n.*2055T=) | |
10 | g.52766082A>C | CA1910256932 | MBL2 | c.*2055T>G (n.*2055T>G) | dbSNP |
10 | g.52766082A>G | CA2609208859 | MBL2 | c.*2055T>C (n.*2055T>C) | gnomAD v4 |
10 | g.52766087A>G | CA2609208860 | MBL2 | c.*2050T>C (n.*2050T>C) | gnomAD v4 |
10 | g.52766088T>A | CA2788008563 | MBL2 | c.*2049A>T (n.*2049A>T) | |
10 | g.52766089T>A | CA1910256934 | MBL2 | c.*2048A>T (n.*2048A>T) | dbSNP |
10 | g.52766089T>C | CA10631781 | MBL2 | c.*2048A>G (n.*2048A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766089T>G | CA2739310487 | MBL2 | c.*2048A>C (n.*2048A>C) | |
10 | g.52766089T= | CA1910256933 | MBL2 | c.*2048A= (n.*2048A=) | |
10 | g.52766090del | CA469519152 | MBL2 | c.*2047del (n.*2047del) | |
10 | g.52766091T>C | CA2721879475 | MBL2 | c.*2046A>G (n.*2046A>G) | dbSNP |
10 | g.52766092A>G | CA2609208861 | MBL2 | c.*2045T>C (n.*2045T>C) | gnomAD v4 |
10 | g.52766096del | CA2518881960 | MBL2 | c.*2041del (n.*2041del) | |
10 | g.52766097C>A | CA10635446 | MBL2 | c.*2040G>T (n.*2040G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766097C= | CA1910256935 | MBL2 | c.*2040G= (n.*2040G=) | |
10 | g.52766098A= | CA1910256936 | MBL2 | c.*2039T= (n.*2039T=) | |
10 | g.52766098A>C | CA928435674 | MBL2 | c.*2039T>G (n.*2039T>G) | dbSNP |
10 | g.52766098_52766099delinsAT | CA1910256937 | MBL2 | c.*2038_*2039delinsAT (n.*2038_*2039delinsAT) |