Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52765942C>T | CA2721879403 | MBL2 | c.*2195G>A (n.*2195G>A) | dbSNP |
10 | g.52765945A= | CA1910256869 | MBL2 | c.*2192T= (n.*2192T=) | |
10 | g.52765945A>G | CA666356225 | MBL2 | c.*2192T>C (n.*2192T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52765945A>T | CA1910256870 | MBL2 | c.*2192T>A (n.*2192T>A) | dbSNP |
10 | g.52765946_52765951delinsAAACTT | CA1910256871 | MBL2 | c.*2186_*2191delinsAAGTTT (n.*2186_*2191delinsAAGTTT) | |
10 | g.52765947A>G | CA2788008549 | MBL2 | c.*2190T>C (n.*2190T>C) | |
10 | g.52765951_52765955del | CA207456814 | MBL2 | c.*2186_*2190del (n.*2186_*2190del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52765949C>A | CA207456815 | MBL2 | c.*2188G>T (n.*2188G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52765949C= | CA1910256872 | MBL2 | c.*2188G= (n.*2188G=) | |
10 | g.52765950T>C | CA2788008550 | MBL2 | c.*2187A>G (n.*2187A>G) | |
10 | g.52765951T>C | CA207456816 | MBL2 | c.*2186A>G (n.*2186A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52765951T= | CA1910256873 | MBL2 | c.*2186A= (n.*2186A=) | |
10 | g.52765955T>C | CA207456817 | MBL2 | c.*2182A>G (n.*2182A>G) | dbSNP |
10 | g.52765955T= | CA1910256874 | MBL2 | c.*2182A= (n.*2182A=) | |
10 | g.52765958A= | CA1910256875 | MBL2 | c.*2179T= (n.*2179T=) | |
10 | g.52765958A>G | CA1910256876 | MBL2 | c.*2179T>C (n.*2179T>C) | dbSNP |
10 | g.52765961T>G | CA666356231 | MBL2 | c.*2176A>C (n.*2176A>C) | dbSNP |
10 | g.52765961T= | CA1910256877 | MBL2 | c.*2176A= (n.*2176A=) | |
10 | g.52765962C>A | CA1910256878 | MBL2 | c.*2175G>T (n.*2175G>T) | dbSNP |
10 | g.52765962C= | CA1910256879 | MBL2 | c.*2175G= (n.*2175G=) | |
10 | g.52765967_52765970delinsTACA | CA1910256880 | MBL2 | c.*2167_*2170delinsTGTA (n.*2167_*2170delinsTGTA) | |
10 | g.52765968A>G | CA2788008551 | MBL2 | c.*2169T>C (n.*2169T>C) | |
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 |