Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52765906A= | CA1910256848 | MBL2 | c.*2231T= (n.*2231T=) | |
10 | g.52765906A>G | CA207456809 | MBL2 | c.*2231T>C (n.*2231T>C) | dbSNP |
10 | g.52765907_52765915delinsAACTTATTG | CA1910256849 | MBL2 | c.*2222_*2230delinsCAATAAGTT (n.*2222_*2230delinsCAATAAGTT) | |
10 | g.52765909_52765916del | CA666356203 | MBL2 | c.*2222_*2229del (n.*2222_*2229del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52765913T>C | CA1910256851 | MBL2 | c.*2224A>G (n.*2224A>G) | dbSNP |
10 | g.52765913T= | CA1910256850 | MBL2 | c.*2224A= (n.*2224A=) | |
10 | g.52765917G>A | CA207456810 | MBL2 | c.*2220C>T (n.*2220C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52765917G= | CA1910256852 | MBL2 | c.*2220C= (n.*2220C=) | |
10 | g.52765918T>A | CA2580598415 | MBL2 | c.*2219A>T (n.*2219A>T) | |
10 | g.52765918T>C | CA2580598414 | MBL2 | c.*2219A>G (n.*2219A>G) | |
10 | g.52765918T>G | CA10635445 | MBL2 | c.*2219A>C (n.*2219A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52765918T= | CA1910256853 | MBL2 | c.*2219A= (n.*2219A=) | |
10 | g.52765920T>G | CA1910256855 | MBL2 | c.*2217A>C (n.*2217A>C) | dbSNP |
10 | g.52765920T= | CA1910256854 | MBL2 | c.*2217A= (n.*2217A=) | |
10 | g.52765922C= | CA1910256856 | MBL2 | c.*2215G= (n.*2215G=) | |
10 | g.52765922C>G | CA1910256857 | MBL2 | c.*2215G>C (n.*2215G>C) | dbSNP |
10 | g.52765925A= | CA1910256858 | MBL2 | c.*2212T= (n.*2212T=) | |
10 | g.52765925A>T | CA666356215 | MBL2 | c.*2212T>A (n.*2212T>A) | dbSNP |
10 | g.52765926A= | CA1910256859 | MBL2 | c.*2211T= (n.*2211T=) | |
10 | g.52765926A>G | CA593571528 | MBL2 | c.*2211T>C (n.*2211T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52765927C= | CA1910256860 | MBL2 | c.*2210G= (n.*2210G=) | |
10 | g.52765927C>G | CA928435634 | MBL2 | c.*2210G>C (n.*2210G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.52765928A= | CA1910256861 | MBL2 | c.*2209T= (n.*2209T=) | |
10 | g.52765928A>G | CA207456811 | MBL2 | c.*2209T>C (n.*2209T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52765930C= | CA1910256862 | MBL2 | c.*2207G= (n.*2207G=) | |
10 | g.52765930C>G | CA1910256863 | MBL2 | c.*2207G>C (n.*2207G>C) | dbSNP |
10 | g.52765930C>T | CA207456812 | MBL2 | c.*2207G>A (n.*2207G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52765931G>A | CA207456813 | MBL2 | c.*2206C>T (n.*2206C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52765931G= | CA1910256864 | MBL2 | c.*2206C= (n.*2206C=) | |
10 | g.52765932dup | CA1910256865 | MBL2 | c.*2205dup (n.*2205dup) | dbSNP |
10 | g.52765935G>A | CA1910256866 | MBL2 | c.*2202C>T (n.*2202C>T) | dbSNP |
10 | g.52765935G= | CA1910256867 | MBL2 | c.*2202C= (n.*2202C=) | |
10 | g.52765937C>A | CA2609208849 | MBL2 | c.*2200G>T (n.*2200G>T) | gnomAD v4 |
10 | g.52765940C= | CA1910256868 | MBL2 | c.*2197G= (n.*2197G=) | |
10 | g.52765940C>T | CA593571530 | MBL2 | c.*2197G>A (n.*2197G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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=) |