Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71083299_71083307dup | CA939358620 | SHANK2 | c.913-8019_913-8011dup (n.913-8019_913-8011dup) c.321-8019_321-8011dup c.*476-8019_*476-8011dup (n.*476-8019_*476-8011dup) c.57-8019_57-8011dup | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083299_71083307del | CA679877907 | SHANK2 | c.913-8019_913-8011del (n.913-8019_913-8011del) c.321-8019_321-8011del c.*476-8019_*476-8011del (n.*476-8019_*476-8011del) c.57-8019_57-8011del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083296_71083308delinsTGATGACAATGAG | CA1981314402 | SHANK2 | c.913-8033_913-8021delinsCTCATTGTCATCA (n.913-8033_913-8021delinsCTCATTGTCATCA) c.321-8033_321-8021delinsCTCATTGTCATCA c.*476-8033_*476-8021delinsCTCATTGTCATCA (n.*476-8033_*476-8021delinsCTCATTGTCATCA) c.57-8033_57-8021delinsCTCATTGTCATCA | |
11 | g.71083302_71083313del | CA679877914 | SHANK2 | c.913-8033_913-8022del (n.913-8033_913-8022del) c.321-8033_321-8022del c.*476-8033_*476-8022del (n.*476-8033_*476-8022del) c.57-8033_57-8022del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083314T>C | CA679877929 | SHANK2 | c.913-8039A>G (n.913-8039A>G) c.321-8039A>G c.*476-8039A>G (n.*476-8039A>G) c.57-8039A>G | dbSNP |
11 | g.71083314T= | CA1981314407 | SHANK2 | c.913-8039A= (n.913-8039A=) c.321-8039A= c.*476-8039A= (n.*476-8039A=) c.57-8039A= | |
11 | g.71083315G>A | CA224325590 | SHANK2 | c.913-8040C>T (n.913-8040C>T) c.321-8040C>T c.*476-8040C>T (n.*476-8040C>T) c.57-8040C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083315G= | CA1981314408 | SHANK2 | c.913-8040C= (n.913-8040C=) c.321-8040C= c.*476-8040C= (n.*476-8040C=) c.57-8040C= | |
11 | g.71083317_71083318delinsTG | CA1981314409 | SHANK2 | c.913-8043_913-8042delinsCA (n.913-8043_913-8042delinsCA) c.321-8043_321-8042delinsCA c.*476-8043_*476-8042delinsCA (n.*476-8043_*476-8042delinsCA) c.57-8043_57-8042delinsCA | |
11 | g.71083323dup | CA679877931 | SHANK2 | c.913-8043dup (n.913-8043dup) c.321-8043dup c.*476-8043dup (n.*476-8043dup) c.57-8043dup | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083323del | CA679877934 | SHANK2 | c.913-8043del (n.913-8043del) c.321-8043del c.*476-8043del (n.*476-8043del) c.57-8043del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083319G>A | CA1981314411 | SHANK2 | c.913-8044C>T (n.913-8044C>T) c.321-8044C>T c.*476-8044C>T (n.*476-8044C>T) c.57-8044C>T | dbSNP |
11 | g.71083319G= | CA1981314410 | SHANK2 | c.913-8044C= (n.913-8044C=) c.321-8044C= c.*476-8044C= (n.*476-8044C=) c.57-8044C= | |
11 | g.71083320G>A | CA224325595 | SHANK2 | c.913-8045C>T (n.913-8045C>T) c.321-8045C>T c.*476-8045C>T (n.*476-8045C>T) c.57-8045C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083320G= | CA1981314412 | SHANK2 | c.913-8045C= (n.913-8045C=) c.321-8045C= c.*476-8045C= (n.*476-8045C=) c.57-8045C= | |
11 | g.71083322G>A | CA1981314413 | SHANK2 | c.913-8047C>T (n.913-8047C>T) c.321-8047C>T c.*476-8047C>T (n.*476-8047C>T) c.57-8047C>T | dbSNP |
11 | g.71083322G= | CA1981314414 | SHANK2 | c.913-8047C= (n.913-8047C=) c.321-8047C= c.*476-8047C= (n.*476-8047C=) c.57-8047C= | |
11 | g.71083322G>T | CA939358637 | SHANK2 | c.913-8047C>A (n.913-8047C>A) c.321-8047C>A c.*476-8047C>A (n.*476-8047C>A) c.57-8047C>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083323G>A | CA1981314416 | SHANK2 | c.913-8048C>T (n.913-8048C>T) c.321-8048C>T c.*476-8048C>T (n.*476-8048C>T) c.57-8048C>T | dbSNP |
11 | g.71083323G= | CA1981314415 | SHANK2 | c.913-8048C= (n.913-8048C=) c.321-8048C= c.*476-8048C= (n.*476-8048C=) c.57-8048C= | |
11 | g.71083325C= | CA1981314417 | SHANK2 | c.913-8050G= (n.913-8050G=) c.321-8050G= c.*476-8050G= (n.*476-8050G=) c.57-8050G= | |
11 | g.71083325C>T | CA1981314418 | SHANK2 | c.913-8050G>A (n.913-8050G>A) c.321-8050G>A c.*476-8050G>A (n.*476-8050G>A) c.57-8050G>A | dbSNP |
11 | g.71083335_71083338delinsCAAT | CA1981314419 | SHANK2 | c.913-8063_913-8060delinsATTG (n.913-8063_913-8060delinsATTG) c.321-8063_321-8060delinsATTG c.*476-8063_*476-8060delinsATTG (n.*476-8063_*476-8060delinsATTG) c.57-8063_57-8060delinsATTG | |
11 | g.71083339_71083341del | CA679877937 | SHANK2 | c.913-8063_913-8061del (n.913-8063_913-8061del) c.321-8063_321-8061del c.*476-8063_*476-8061del (n.*476-8063_*476-8061del) c.57-8063_57-8061del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083338T>C | CA939358644 | SHANK2 | c.913-8063A>G (n.913-8063A>G) c.321-8063A>G c.*476-8063A>G (n.*476-8063A>G) c.57-8063A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083338T= | CA1981314420 | SHANK2 | c.913-8063A= (n.913-8063A=) c.321-8063A= c.*476-8063A= (n.*476-8063A=) c.57-8063A= | |
11 | g.71083347G>A | CA679877938 | SHANK2 | c.913-8072C>T (n.913-8072C>T) c.321-8072C>T c.*476-8072C>T (n.*476-8072C>T) c.57-8072C>T | dbSNP |
11 | g.71083347G= | CA1981314421 | SHANK2 | c.913-8072C= (n.913-8072C=) c.321-8072C= c.*476-8072C= (n.*476-8072C=) c.57-8072C= | |
11 | g.71083352T>G | CA224325608 | SHANK2 | c.913-8077A>C (n.913-8077A>C) c.321-8077A>C c.*476-8077A>C (n.*476-8077A>C) c.57-8077A>C | dbSNP |
11 | g.71083352T= | CA1981314422 | SHANK2 | c.913-8077A= (n.913-8077A=) c.321-8077A= c.*476-8077A= (n.*476-8077A=) c.57-8077A= | |
11 | g.71083356T>C | CA939358645 | SHANK2 | c.913-8081A>G (n.913-8081A>G) c.321-8081A>G c.*476-8081A>G (n.*476-8081A>G) c.57-8081A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083356T= | CA1981314423 | SHANK2 | c.913-8081A= (n.913-8081A=) c.321-8081A= c.*476-8081A= (n.*476-8081A=) c.57-8081A= | |
11 | g.71083358A= | CA1981314424 | SHANK2 | c.913-8083T= (n.913-8083T=) c.321-8083T= c.*476-8083T= (n.*476-8083T=) c.57-8083T= | |
11 | g.71083358A>G | CA1981314425 | SHANK2 | c.913-8083T>C (n.913-8083T>C) c.321-8083T>C c.*476-8083T>C (n.*476-8083T>C) c.57-8083T>C | dbSNP |
11 | g.71083360G>A | CA224325614 | SHANK2 | c.913-8085C>T (n.913-8085C>T) c.321-8085C>T c.*476-8085C>T (n.*476-8085C>T) c.57-8085C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083360G= | CA1981314426 | SHANK2 | c.913-8085C= (n.913-8085C=) c.321-8085C= c.*476-8085C= (n.*476-8085C=) c.57-8085C= | |
11 | g.71083361C= | CA1981314427 | SHANK2 | c.913-8086G= (n.913-8086G=) c.321-8086G= c.*476-8086G= (n.*476-8086G=) c.57-8086G= | |
11 | g.71083361C>T | CA679877942 | SHANK2 | c.913-8086G>A (n.913-8086G>A) c.321-8086G>A c.*476-8086G>A (n.*476-8086G>A) c.57-8086G>A | dbSNP |
11 | g.71083363C>A | CA224325620 | SHANK2 | c.913-8088G>T (n.913-8088G>T) c.321-8088G>T c.*476-8088G>T (n.*476-8088G>T) c.57-8088G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083363C= | CA1981314428 | SHANK2 | c.913-8088G= (n.913-8088G=) c.321-8088G= c.*476-8088G= (n.*476-8088G=) c.57-8088G= | |
11 | g.71083367G= | CA1981314429 | SHANK2 | c.913-8092C= (n.913-8092C=) c.321-8092C= c.*476-8092C= (n.*476-8092C=) c.57-8092C= | |
11 | g.71083367G>T | CA1981314430 | SHANK2 | c.913-8092C>A (n.913-8092C>A) c.321-8092C>A c.*476-8092C>A (n.*476-8092C>A) c.57-8092C>A | dbSNP |
11 | g.71083369C= | CA1981314431 | SHANK2 | c.913-8094G= (n.913-8094G=) c.321-8094G= c.*476-8094G= (n.*476-8094G=) c.57-8094G= | |
11 | g.71083369C>G | CA224325627 | SHANK2 | c.913-8094G>C (n.913-8094G>C) c.321-8094G>C c.*476-8094G>C (n.*476-8094G>C) c.57-8094G>C | dbSNP |
11 | g.71083369C>T | CA2598832514 | SHANK2 | c.913-8094G>A (n.913-8094G>A) c.321-8094G>A c.*476-8094G>A (n.*476-8094G>A) c.57-8094G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083373G= | CA1981314432 | SHANK2 | c.913-8098C= (n.913-8098C=) c.321-8098C= c.*476-8098C= (n.*476-8098C=) c.57-8098C= | |
11 | g.71083373G>T | CA679877951 | SHANK2 | c.913-8098C>A (n.913-8098C>A) c.321-8098C>A c.*476-8098C>A (n.*476-8098C>A) c.57-8098C>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083375C= | CA1981314433 | SHANK2 | c.913-8100G= (n.913-8100G=) c.321-8100G= c.*476-8100G= (n.*476-8100G=) c.57-8100G= | |
11 | g.71083375C>G | CA679877952 | SHANK2 | c.913-8100G>C (n.913-8100G>C) c.321-8100G>C c.*476-8100G>C (n.*476-8100G>C) c.57-8100G>C | dbSNP |
11 | g.71083375C>T | CA224325631 | SHANK2 | c.913-8100G>A (n.913-8100G>A) c.321-8100G>A c.*476-8100G>A (n.*476-8100G>A) c.57-8100G>A | dbSNP gnomAD v3 gnomAD v4 |