| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.52766179_52766189del | CA2721879835 | MBL2 | c.*1949_*1959del (n.*1949_*1959del) | dbSNP |
| 10 | g.52766182G>A | CA207456836 | MBL2 | c.*1955C>T (n.*1955C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52766182G= | CA1910256975 | MBL2 | c.*1955C= (n.*1955C=) | |
| 10 | g.52766185C>A | CA2609208874 | MBL2 | c.*1952G>T (n.*1952G>T) | gnomAD v4 |
| 10 | g.52766185C>G | CA2561927707 | MBL2 | c.*1952G>C (n.*1952G>C) | |
| 10 | g.52766188G>T | CA2609208875 | MBL2 | c.*1949C>A (n.*1949C>A) | gnomAD v4 |
| 10 | g.52766190A>G | CA2721879983 | MBL2 | c.*1947T>C (n.*1947T>C) | dbSNP |
| 10 | g.52766191G>T | CA2523212960 | MBL2 | c.*1946C>A (n.*1946C>A) | |
| 10 | g.52766194A= | CA1910256976 | MBL2 | c.*1943T= (n.*1943T=) | |
| 10 | g.52766194A>T | CA207456837 | MBL2 | c.*1943T>A (n.*1943T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52766196C= | CA1910256977 | MBL2 | c.*1941G= (n.*1941G=) | |
| 10 | g.52766196C>T | CA666356469 | MBL2 | c.*1941G>A (n.*1941G>A) | dbSNP |
| 10 | g.52766197T>C | CA2609208876 | MBL2 | c.*1940A>G (n.*1940A>G) | gnomAD v4 |
| 10 | g.52766203G>A | CA666356470 | MBL2 | c.*1934C>T (n.*1934C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.52766203G= | CA1910256978 | MBL2 | c.*1934C= (n.*1934C=) | |
| 10 | g.52766204G>T | CA2609208877 | MBL2 | c.*1933C>A (n.*1933C>A) | gnomAD v4 |
| 10 | g.52766205A= | CA1910256979 | MBL2 | c.*1932T= (n.*1932T=) | |
| 10 | g.52766205A>G | CA666356471 | MBL2 | c.*1932T>C (n.*1932T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.52766205A>T | CA2721558563 | MBL2 | c.*1932T>A (n.*1932T>A) | dbSNP |
| 10 | g.52766207T>A | CA593571558 | MBL2 | c.*1930A>T (n.*1930A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52766207T= | CA1910256980 | MBL2 | c.*1930A= (n.*1930A=) | |
| 10 | g.52766213G>A | CA1910256982 | MBL2 | c.*1924C>T (n.*1924C>T) | dbSNP |
| 10 | g.52766213G= | CA1910256981 | MBL2 | c.*1924C= (n.*1924C=) | |
| 10 | g.52766213G>T | CA2609208878 | MBL2 | c.*1924C>A (n.*1924C>A) | gnomAD v4 |
| 10 | g.52766214A>G | CA2609208879 | MBL2 | c.*1923T>C (n.*1923T>C) | gnomAD v4 |
| 10 | g.52766217T>C | CA593571560 | MBL2 | c.*1920A>G (n.*1920A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52766217T= | CA1910256983 | MBL2 | c.*1920A= (n.*1920A=) | |
| 10 | g.52766219G>A | CA928435700 | MBL2 | c.*1918C>T (n.*1918C>T) | dbSNP |
| 10 | g.52766219G= | CA1910256984 | MBL2 | c.*1918C= (n.*1918C=) | |
| 10 | g.52766219G>T | CA2565178845 | MBL2 | c.*1918C>A (n.*1918C>A) | |
| 10 | g.52766221G>T | CA2609208880 | MBL2 | c.*1916C>A (n.*1916C>A) | gnomAD v4 |
| 10 | g.52766221_52766222delinsGA | CA1910256985 | MBL2 | c.*1915_*1916delinsTC (n.*1915_*1916delinsTC) | |
| 10 | g.52766222A= | CA1910256986 | MBL2 | c.*1915T= (n.*1915T=) | |
| 10 | g.52766222A>G | CA1910256987 | MBL2 | c.*1915T>C (n.*1915T>C) | dbSNP |
| 10 | g.52766223del | CA666356484 | MBL2 | c.*1915del (n.*1915del) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.52766223A= | CA1910256988 | MBL2 | c.*1914T= (n.*1914T=) | |
| 10 | g.52766223A>G | CA666356485 | MBL2 | c.*1914T>C (n.*1914T>C) | dbSNP |
| 10 | g.52766224G>A | CA10631783 | MBL2 | c.*1913C>T (n.*1913C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52766224G>C | CA1910256990 | MBL2 | c.*1913C>G (n.*1913C>G) | dbSNP |
| 10 | g.52766224G= | CA1910256989 | MBL2 | c.*1913C= (n.*1913C=) | |
| 10 | g.52766225C= | CA1910256992 | MBL2 | c.*1912G= (n.*1912G=) | |
| 10 | g.52766225C>T | CA1910256993 | MBL2 | c.*1912G>A (n.*1912G>A) | dbSNP |
| 10 | g.52766225_52766227delinsCTG | CA1910256991 | MBL2 | c.*1910_*1912delinsCAG (n.*1910_*1912delinsCAG) | |
| 10 | g.52766227_52766228del | CA666356486 | MBL2 | c.*1910_*1911del (n.*1910_*1911del) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.52766230T>A | CA207456838 | MBL2 | c.*1907A>T (n.*1907A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.52766230T= | CA1910256994 | MBL2 | c.*1907A= (n.*1907A=) | |
| 10 | g.52766231C>A | CA666356492 | MBL2 | c.*1906G>T (n.*1906G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.52766231C= | CA1910256995 | MBL2 | c.*1906G= (n.*1906G=) | |
| 10 | g.52766234del | CA2609208881 | MBL2 | c.*1904del (n.*1904del) | gnomAD v4 |
| 10 | g.52766235T>C | CA2609208882 | MBL2 | c.*1902A>G (n.*1902A>G) | gnomAD v4 |