Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71084309G>C | CA10635567 | SHANK2 | c.912+8113C>G (n.912+8113C>G) c.320+8113C>G c.*475+8113C>G (n.*475+8113C>G) c.56+8113C>G | |
11 | g.71084309dup | CA2598832562 | SHANK2 | c.912+8113dup (n.912+8113dup) c.320+8113dup c.*475+8113dup (n.*475+8113dup) c.56+8113dup | gnomAD v3 gnomAD v4 |
11 | g.71084315A= | CA1981314915 | SHANK2 | c.912+8107T= (n.912+8107T=) c.320+8107T= c.*475+8107T= (n.*475+8107T=) c.56+8107T= | |
11 | g.71084315A>G | CA679878961 | SHANK2 | c.912+8107T>C (n.912+8107T>C) c.320+8107T>C c.*475+8107T>C (n.*475+8107T>C) c.56+8107T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084316T>A | CA679878966 | SHANK2 | c.912+8106A>T (n.912+8106A>T) c.320+8106A>T c.*475+8106A>T (n.*475+8106A>T) c.56+8106A>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084316T>C | CA679878971 | SHANK2 | c.912+8106A>G (n.912+8106A>G) c.320+8106A>G c.*475+8106A>G (n.*475+8106A>G) c.56+8106A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084316T= | CA1981314916 | SHANK2 | c.912+8106A= (n.912+8106A=) c.320+8106A= c.*475+8106A= (n.*475+8106A=) c.56+8106A= | |
11 | g.71084319G>A | CA679878981 | SHANK2 | c.912+8103C>T (n.912+8103C>T) c.320+8103C>T c.*475+8103C>T (n.*475+8103C>T) c.56+8103C>T | dbSNP |
11 | g.71084319G= | CA1981314917 | SHANK2 | c.912+8103C= (n.912+8103C=) c.320+8103C= c.*475+8103C= (n.*475+8103C=) c.56+8103C= | |
11 | g.71084320G>A | CA939358879 | SHANK2 | c.912+8102C>T (n.912+8102C>T) c.320+8102C>T c.*475+8102C>T (n.*475+8102C>T) c.56+8102C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084320G= | CA1981314918 | SHANK2 | c.912+8102C= (n.912+8102C=) c.320+8102C= c.*475+8102C= (n.*475+8102C=) c.56+8102C= | |
11 | g.71084323C= | CA1981314919 | SHANK2 | c.912+8099G= (n.912+8099G=) c.320+8099G= c.*475+8099G= (n.*475+8099G=) c.56+8099G= | |
11 | g.71084323C>G | CA939358881 | SHANK2 | c.912+8099G>C (n.912+8099G>C) c.320+8099G>C c.*475+8099G>C (n.*475+8099G>C) c.56+8099G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084326C>A | CA679878985 | SHANK2 | c.912+8096G>T (n.912+8096G>T) c.320+8096G>T c.*475+8096G>T (n.*475+8096G>T) c.56+8096G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084326C= | CA1981314920 | SHANK2 | c.912+8096G= (n.912+8096G=) c.320+8096G= c.*475+8096G= (n.*475+8096G=) c.56+8096G= | |
11 | g.71084326C>G | CA1981314921 | SHANK2 | c.912+8096G>C (n.912+8096G>C) c.320+8096G>C c.*475+8096G>C (n.*475+8096G>C) c.56+8096G>C | dbSNP |
11 | g.71084340T>C | CA224326364 | SHANK2 | c.912+8082A>G (n.912+8082A>G) c.320+8082A>G c.*475+8082A>G (n.*475+8082A>G) c.56+8082A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084340T= | CA1981314922 | SHANK2 | c.912+8082A= (n.912+8082A=) c.320+8082A= c.*475+8082A= (n.*475+8082A=) c.56+8082A= | |
11 | g.71084341G>A | CA679878990 | SHANK2 | c.912+8081C>T (n.912+8081C>T) c.320+8081C>T c.*475+8081C>T (n.*475+8081C>T) c.56+8081C>T | dbSNP |
11 | g.71084341G= | CA1981314923 | SHANK2 | c.912+8081C= (n.912+8081C=) c.320+8081C= c.*475+8081C= (n.*475+8081C=) c.56+8081C= | |
11 | g.71084343G>A | CA2724524709 | SHANK2 | c.912+8079C>T (n.912+8079C>T) c.320+8079C>T c.*475+8079C>T (n.*475+8079C>T) c.56+8079C>T | dbSNP |
11 | g.71084344G>A | CA679878992 | SHANK2 | c.912+8078C>T (n.912+8078C>T) c.320+8078C>T c.*475+8078C>T (n.*475+8078C>T) c.56+8078C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084344G= | CA1981314924 | SHANK2 | c.912+8078C= (n.912+8078C=) c.320+8078C= c.*475+8078C= (n.*475+8078C=) c.56+8078C= | |
11 | g.71084346T>A | CA2792612892 | SHANK2 | c.912+8076A>T (n.912+8076A>T) c.320+8076A>T c.*475+8076A>T (n.*475+8076A>T) c.56+8076A>T | |
11 | g.71084346T>C | CA1981314926 | SHANK2 | c.912+8076A>G (n.912+8076A>G) c.320+8076A>G c.*475+8076A>G (n.*475+8076A>G) c.56+8076A>G | dbSNP |
11 | g.71084346T= | CA1981314925 | SHANK2 | c.912+8076A= (n.912+8076A=) c.320+8076A= c.*475+8076A= (n.*475+8076A=) c.56+8076A= | |
11 | g.71084347G>A | CA939358882 | SHANK2 | c.912+8075C>T (n.912+8075C>T) c.320+8075C>T c.*475+8075C>T (n.*475+8075C>T) c.56+8075C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084347G= | CA1981314927 | SHANK2 | c.912+8075C= (n.912+8075C=) c.320+8075C= c.*475+8075C= (n.*475+8075C=) c.56+8075C= | |
11 | g.71084350G>A | CA939358883 | SHANK2 | c.912+8072C>T (n.912+8072C>T) c.320+8072C>T c.*475+8072C>T (n.*475+8072C>T) c.56+8072C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084350G= | CA1981314928 | SHANK2 | c.912+8072C= (n.912+8072C=) c.320+8072C= c.*475+8072C= (n.*475+8072C=) c.56+8072C= | |
11 | g.71084353T>C | CA679878995 | SHANK2 | c.912+8069A>G (n.912+8069A>G) c.320+8069A>G c.*475+8069A>G (n.*475+8069A>G) c.56+8069A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084353T= | CA1981314929 | SHANK2 | c.912+8069A= (n.912+8069A=) c.320+8069A= c.*475+8069A= (n.*475+8069A=) c.56+8069A= | |
11 | g.71084356C>A | CA679878999 | SHANK2 | c.912+8066G>T (n.912+8066G>T) c.320+8066G>T c.*475+8066G>T (n.*475+8066G>T) c.56+8066G>T | dbSNP |
11 | g.71084356C= | CA1981314930 | SHANK2 | c.912+8066G= (n.912+8066G=) c.320+8066G= c.*475+8066G= (n.*475+8066G=) c.56+8066G= | |
11 | g.71084361C>A | CA224326365 | SHANK2 | c.912+8061G>T (n.912+8061G>T) c.320+8061G>T c.*475+8061G>T (n.*475+8061G>T) c.56+8061G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084361C= | CA1981314931 | SHANK2 | c.912+8061G= (n.912+8061G=) c.320+8061G= c.*475+8061G= (n.*475+8061G=) c.56+8061G= | |
11 | g.71084362T>C | CA679879003 | SHANK2 | c.912+8060A>G (n.912+8060A>G) c.320+8060A>G c.*475+8060A>G (n.*475+8060A>G) c.56+8060A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084362T= | CA1981314932 | SHANK2 | c.912+8060A= (n.912+8060A=) c.320+8060A= c.*475+8060A= (n.*475+8060A=) c.56+8060A= | |
11 | g.71084364T>G | CA679879021 | SHANK2 | c.912+8058A>C (n.912+8058A>C) c.320+8058A>C c.*475+8058A>C (n.*475+8058A>C) c.56+8058A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084364T= | CA1981314933 | SHANK2 | c.912+8058A= (n.912+8058A=) c.320+8058A= c.*475+8058A= (n.*475+8058A=) c.56+8058A= | |
11 | g.71084368A= | CA1981314934 | SHANK2 | c.912+8054T= (n.912+8054T=) c.320+8054T= c.*475+8054T= (n.*475+8054T=) c.56+8054T= | |
11 | g.71084368A>C | CA224326373 | SHANK2 | c.912+8054T>G (n.912+8054T>G) c.320+8054T>G c.*475+8054T>G (n.*475+8054T>G) c.56+8054T>G | dbSNP |
11 | g.71084370G>A | CA939358884 | SHANK2 | c.912+8052C>T (n.912+8052C>T) c.320+8052C>T c.*475+8052C>T (n.*475+8052C>T) c.56+8052C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084370G= | CA1981314935 | SHANK2 | c.912+8052C= (n.912+8052C=) c.320+8052C= c.*475+8052C= (n.*475+8052C=) c.56+8052C= | |
11 | g.71084371T>C | CA1981314937 | SHANK2 | c.912+8051A>G (n.912+8051A>G) c.320+8051A>G c.*475+8051A>G (n.*475+8051A>G) c.56+8051A>G | dbSNP |
11 | g.71084371T= | CA1981314936 | SHANK2 | c.912+8051A= (n.912+8051A=) c.320+8051A= c.*475+8051A= (n.*475+8051A=) c.56+8051A= | |
11 | g.71084372G>A | CA679879023 | SHANK2 | c.912+8050C>T (n.912+8050C>T) c.320+8050C>T c.*475+8050C>T (n.*475+8050C>T) c.56+8050C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084372G= | CA1981314938 | SHANK2 | c.912+8050C= (n.912+8050C=) c.320+8050C= c.*475+8050C= (n.*475+8050C=) c.56+8050C= | |
11 | g.71084376G>A | CA939358886 | SHANK2 | c.912+8046C>T (n.912+8046C>T) c.320+8046C>T c.*475+8046C>T (n.*475+8046C>T) c.56+8046C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71084376G= | CA1981314939 | SHANK2 | c.912+8046C= (n.912+8046C=) c.320+8046C= c.*475+8046C= (n.*475+8046C=) c.56+8046C= |