Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71083270C= | CA1981314392 | SHANK2 | c.913-7995G= (n.913-7995G=) c.321-7995G= c.*476-7995G= (n.*476-7995G=) c.57-7995G= | |
11 | g.71083270C>T | CA1981314393 | SHANK2 | c.913-7995G>A (n.913-7995G>A) c.321-7995G>A c.*476-7995G>A (n.*476-7995G>A) c.57-7995G>A | dbSNP |
11 | g.71083274C= | CA1981314394 | SHANK2 | c.913-7999G= (n.913-7999G=) c.321-7999G= c.*476-7999G= (n.*476-7999G=) c.57-7999G= | |
11 | g.71083274C>T | CA224325536 | SHANK2 | c.913-7999G>A (n.913-7999G>A) c.321-7999G>A c.*476-7999G>A (n.*476-7999G>A) c.57-7999G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083275G>A | CA224325555 | SHANK2 | c.913-8000C>T (n.913-8000C>T) c.321-8000C>T c.*476-8000C>T (n.*476-8000C>T) c.57-8000C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083275G= | CA1981314395 | SHANK2 | c.913-8000C= (n.913-8000C=) c.321-8000C= c.*476-8000C= (n.*476-8000C=) c.57-8000C= | |
11 | g.71083282_71083285delinsCATG | CA1981314396 | SHANK2 | c.913-8010_913-8007delinsCATG (n.913-8010_913-8007delinsCATG) c.321-8010_321-8007delinsCATG c.*476-8010_*476-8007delinsCATG (n.*476-8010_*476-8007delinsCATG) c.57-8010_57-8007delinsCATG | |
11 | g.71083290_71083292del | CA679877903 | SHANK2 | c.913-8010_913-8008del (n.913-8010_913-8008del) c.321-8010_321-8008del c.*476-8010_*476-8008del (n.*476-8010_*476-8008del) c.57-8010_57-8008del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083285_71083294delinsGATGATGACA | CA1981314397 | SHANK2 | c.913-8019_913-8010delinsTGTCATCATC (n.913-8019_913-8010delinsTGTCATCATC) c.321-8019_321-8010delinsTGTCATCATC c.*476-8019_*476-8010delinsTGTCATCATC (n.*476-8019_*476-8010delinsTGTCATCATC) c.57-8019_57-8010delinsTGTCATCATC | |
11 | g.71083286A= | CA1981314398 | SHANK2 | c.913-8011T= (n.913-8011T=) c.321-8011T= c.*476-8011T= (n.*476-8011T=) c.57-8011T= | |
11 | g.71083286A>T | CA939358623 | SHANK2 | c.913-8011T>A (n.913-8011T>A) c.321-8011T>A c.*476-8011T>A (n.*476-8011T>A) c.57-8011T>A | dbSNP gnomAD v3 gnomAD v4 |
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.71083287dup | CA939358626 | SHANK2 | c.913-8012dup (n.913-8012dup) c.321-8012dup c.*476-8012dup (n.*476-8012dup) c.57-8012dup | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083288G>A | CA1981314400 | SHANK2 | c.913-8013C>T (n.913-8013C>T) c.321-8013C>T c.*476-8013C>T (n.*476-8013C>T) c.57-8013C>T | dbSNP |
11 | g.71083288G= | CA1981314399 | SHANK2 | c.913-8013C= (n.913-8013C=) c.321-8013C= c.*476-8013C= (n.*476-8013C=) c.57-8013C= | |
11 | g.71083290T>C | CA2598832510 | SHANK2 | c.913-8015A>G (n.913-8015A>G) c.321-8015A>G c.*476-8015A>G (n.*476-8015A>G) c.57-8015A>G | gnomAD v3 gnomAD v4 |
11 | g.71083290_71083293delinsTGAC | CA1981314401 | SHANK2 | c.913-8018_913-8015delinsGTCA (n.913-8018_913-8015delinsGTCA) c.321-8018_321-8015delinsGTCA c.*476-8018_*476-8015delinsGTCA (n.*476-8018_*476-8015delinsGTCA) c.57-8018_57-8015delinsGTCA | |
11 | g.71083291_71083293del | CA679877912 | SHANK2 | c.913-8018_913-8016del (n.913-8018_913-8016del) c.321-8018_321-8016del c.*476-8018_*476-8016del (n.*476-8018_*476-8016del) c.57-8018_57-8016del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083292A>T | CA2792612840 | SHANK2 | c.913-8017T>A (n.913-8017T>A) c.321-8017T>A c.*476-8017T>A (n.*476-8017T>A) c.57-8017T>A | |
11 | g.71083296T>C | CA939358627 | SHANK2 | c.913-8021A>G (n.913-8021A>G) c.321-8021A>G c.*476-8021A>G (n.*476-8021A>G) c.57-8021A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083296T= | CA1981314403 | SHANK2 | c.913-8021A= (n.913-8021A=) c.321-8021A= c.*476-8021A= (n.*476-8021A=) c.57-8021A= | |
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.71083298A= | CA1981314404 | SHANK2 | c.913-8023T= (n.913-8023T=) c.321-8023T= c.*476-8023T= (n.*476-8023T=) c.57-8023T= | |
11 | g.71083298A>G | CA224325575 | SHANK2 | c.913-8023T>C (n.913-8023T>C) c.321-8023T>C c.*476-8023T>C (n.*476-8023T>C) c.57-8023T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083300G>A | CA679877916 | SHANK2 | c.913-8025C>T (n.913-8025C>T) c.321-8025C>T c.*476-8025C>T (n.*476-8025C>T) c.57-8025C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083300G= | CA1981314405 | SHANK2 | c.913-8025C= (n.913-8025C=) c.321-8025C= c.*476-8025C= (n.*476-8025C=) c.57-8025C= | |
11 | g.71083300G>T | CA939358629 | SHANK2 | c.913-8025C>A (n.913-8025C>A) c.321-8025C>A c.*476-8025C>A (n.*476-8025C>A) c.57-8025C>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083304A= | CA1981314406 | SHANK2 | c.913-8029T= (n.913-8029T=) c.321-8029T= c.*476-8029T= (n.*476-8029T=) c.57-8029T= | |
11 | g.71083304A>C | CA679877921 | SHANK2 | c.913-8029T>G (n.913-8029T>G) c.321-8029T>G c.*476-8029T>G (n.*476-8029T>G) c.57-8029T>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083312G>T | CA2792612841 | SHANK2 | c.913-8037C>A (n.913-8037C>A) c.321-8037C>A c.*476-8037C>A (n.*476-8037C>A) c.57-8037C>A | |
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 |