| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.52766049A= | CA1910256917 | MBL2 | c.*2088T= (n.*2088T=) |