Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52765972_52765974del | CA207456818 | MBL2 | c.*2167_*2169del (n.*2167_*2169del) | dbSNP |
10 | g.52765973A>G | CA2609208850 | MBL2 | c.*2164T>C (n.*2164T>C) | gnomAD v4 |
10 | g.52765975T>C | CA207456819 | MBL2 | c.*2162A>G (n.*2162A>G) | dbSNP |
10 | g.52765975T= | CA1910256881 | MBL2 | c.*2162A= (n.*2162A=) | |
10 | g.52765976A= | CA1910256882 | MBL2 | c.*2161T= (n.*2161T=) | |
10 | g.52765976A>G | CA666356248 | MBL2 | c.*2161T>C (n.*2161T>C) | dbSNP |
10 | g.52765977G>C | CA1910256884 | MBL2 | c.*2160C>G (n.*2160C>G) | dbSNP |
10 | g.52765977G= | CA1910256883 | MBL2 | c.*2160C= (n.*2160C=) | |
10 | g.52765977G>T | CA207456820 | MBL2 | c.*2160C>A (n.*2160C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52765981dup | CA2721879426 | MBL2 | c.*2159dup (n.*2159dup) | dbSNP |
10 | g.52765979_52765982delinsAAAG | CA1910256885 | MBL2 | c.*2155_*2158delinsCTTT (n.*2155_*2158delinsCTTT) | |
10 | g.52765982_52765984del | CA913468604 | MBL2 | c.*2155_*2157del (n.*2155_*2157del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52765982G>A | CA2721879428 | MBL2 | c.*2155C>T (n.*2155C>T) | dbSNP |
10 | g.52765982_52765986delinsGAAAA | CA1910256886 | MBL2 | c.*2151_*2155delinsTTTTC (n.*2151_*2155delinsTTTTC) | |
10 | g.52765988dup | CA2788008553 | MBL2 | c.*2154dup (n.*2154dup) | |
10 | g.52765988del | CA1910256887 | MBL2 | c.*2154del (n.*2154del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52765985_52765988del | CA593571533 | MBL2 | c.*2151_*2154del (n.*2151_*2154del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52765984A= | CA1910256888 | MBL2 | c.*2153T= (n.*2153T=) | |
10 | g.52765984A>C | CA593571535 | MBL2 | c.*2153T>G (n.*2153T>G) | dbSNP gnomAD v2 |
10 | g.52765989T>C | CA2721879459 | MBL2 | c.*2148A>G (n.*2148A>G) | dbSNP |
10 | g.52765990A= | CA1910256889 | MBL2 | c.*2147T= (n.*2147T=) | |
10 | g.52765990A>G | CA593571537 | MBL2 | c.*2147T>C (n.*2147T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52765993T>G | CA1910256891 | MBL2 | c.*2144A>C (n.*2144A>C) | dbSNP |
10 | g.52765993T= | CA1910256890 | MBL2 | c.*2144A= (n.*2144A=) | |
10 | g.52765999_52766002delinsATAT | CA1910256892 | MBL2 | c.*2135_*2138delinsATAT (n.*2135_*2138delinsATAT) | |
10 | g.52766005_52766007del | CA207456821 | MBL2 | c.*2135_*2137del (n.*2135_*2137del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766001A= | CA1910256893 | MBL2 | c.*2136T= (n.*2136T=) | |
10 | g.52766001A>G | CA666356269 | MBL2 | c.*2136T>C (n.*2136T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766003_52766004insC | CA653278901 | MBL2 | c.*2133_*2134insG (n.*2133_*2134insG) | COSMIC |
10 | g.52766006T>C | CA207456822 | MBL2 | c.*2131A>G (n.*2131A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766006T= | CA1910256894 | MBL2 | c.*2131A= (n.*2131A=) | |
10 | g.52766008A= | CA1910256895 | MBL2 | c.*2129T= (n.*2129T=) | |
10 | g.52766008A>G | CA666356279 | MBL2 | c.*2129T>C (n.*2129T>C) | ClinVar dbSNP |
10 | g.52766010A= | CA1910256896 | MBL2 | c.*2127T= (n.*2127T=) | |
10 | g.52766010A>G | CA593571540 | MBL2 | c.*2127T>C (n.*2127T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52766011T>A | CA666356283 | MBL2 | c.*2126A>T (n.*2126A>T) | dbSNP |
10 | g.52766011T= | CA1910256897 | MBL2 | c.*2126A= (n.*2126A=) | |
10 | g.52766012C>A | CA2788008557 | MBL2 | c.*2125G>T (n.*2125G>T) | |
10 | g.52766014C= | CA1910256898 | MBL2 | c.*2123G= (n.*2123G=) | |
10 | g.52766014C>G | CA207456823 | MBL2 | c.*2123G>C (n.*2123G>C) | dbSNP |
10 | g.52766015T= | CA1910256899 | MBL2 | c.*2122A= (n.*2122A=) | |
10 | g.52766016A= | CA1910256901 | MBL2 | c.*2121T= (n.*2121T=) | |
10 | g.52766016A>G | CA1910256902 | MBL2 | c.*2121T>C (n.*2121T>C) | dbSNP |
10 | g.52766019del | CA2520744960 | MBL2 | c.*2121del (n.*2121del) | |
10 | g.52766021_52766029dup | CA1910256900 | MBL2 | c.*2113_*2121dup (n.*2113_*2121dup) | dbSNP |
10 | g.52766018A= | CA1910256903 | MBL2 | c.*2119T= (n.*2119T=) | |
10 | g.52766018A>C | CA207456824 | MBL2 | c.*2119T>G (n.*2119T>G) | dbSNP |
10 | g.52766021C= | CA1910256904 | MBL2 | c.*2116G= (n.*2116G=) | |
10 | g.52766021C>G | CA666356287 | MBL2 | c.*2116G>C (n.*2116G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766021C>T | CA1910256905 | MBL2 | c.*2116G>A (n.*2116G>A) | dbSNP |
10 | g.52766023C>T | CA2609208851 | MBL2 | c.*2114G>A (n.*2114G>A) | gnomAD v4 |
10 | g.52766024C= | CA1910256906 | MBL2 | c.*2113G= (n.*2113G=) | |
10 | g.52766024C>T | CA1910256907 | MBL2 | c.*2113G>A (n.*2113G>A) | dbSNP |
10 | g.52766027A= | CA1910256908 | MBL2 | c.*2110T= (n.*2110T=) | |
10 | g.52766027A>C | CA207456825 | MBL2 | c.*2110T>G (n.*2110T>G) | dbSNP |
10 | g.52766033A= | CA1910256909 | MBL2 | c.*2104T= (n.*2104T=) | |
10 | g.52766033A>G | CA666356290 | MBL2 | c.*2104T>C (n.*2104T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766034T>C | CA1910256911 | MBL2 | c.*2103A>G (n.*2103A>G) | dbSNP |
10 | g.52766034T= | CA1910256910 | MBL2 | c.*2103A= (n.*2103A=) | |
10 | g.52766038C>T | CA2609208852 | MBL2 | c.*2099G>A (n.*2099G>A) | dbSNP gnomAD v4 |
10 | g.52766040_52766041delinsAG | CA1910256912 | MBL2 | c.*2096_*2097delinsCT (n.*2096_*2097delinsCT) | |
10 | g.52766041G>A | CA928435658 | MBL2 | c.*2096C>T (n.*2096C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52766041G= | CA1910256913 | MBL2 | c.*2096C= (n.*2096C=) | |
10 | g.52766042del | CA666356292 | MBL2 | c.*2096del (n.*2096del) | dbSNP |
10 | g.52766042G>A | CA207456826 | MBL2 | c.*2095C>T (n.*2095C>T) | dbSNP |
10 | g.52766042G= | CA1910256914 | MBL2 | c.*2095C= (n.*2095C=) | |
10 | g.52766042_52766043delinsGT | CA1910256915 | MBL2 | c.*2094_*2095delinsAC (n.*2094_*2095delinsAC) | |
10 | g.52766043T>A | CA928435660 | MBL2 | c.*2094A>T (n.*2094A>T) | gnomAD v3 gnomAD v4 |
10 | g.52766047del | CA1910256916 | MBL2 | c.*2094del (n.*2094del) | dbSNP |
10 | g.52766044T>A | CA2788008558 | MBL2 | c.*2093A>T (n.*2093A>T) | |
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=) |