Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71083217A>GCA2569178132SHANK2c.913-7942T>C (n.913-7942T>C)
c.321-7942T>C
c.*476-7942T>C (n.*476-7942T>C)
c.57-7942T>C
11g.71083218G>ACA939358606SHANK2c.913-7943C>T (n.913-7943C>T)
c.321-7943C>T
c.*476-7943C>T (n.*476-7943C>T)
c.57-7943C>T
 dbSNP gnomAD v3 gnomAD v4
11g.71083218G=CA1981314364SHANK2c.913-7943C= (n.913-7943C=)
c.321-7943C=
c.*476-7943C= (n.*476-7943C=)
c.57-7943C=
11g.71083224G=CA1981314365SHANK2c.913-7949C= (n.913-7949C=)
c.321-7949C=
c.*476-7949C= (n.*476-7949C=)
c.57-7949C=
11g.71083224G>TCA1981314366SHANK2c.913-7949C>A (n.913-7949C>A)
c.321-7949C>A
c.*476-7949C>A (n.*476-7949C>A)
c.57-7949C>A
 dbSNP
11g.71083225C=CA1981314367SHANK2c.913-7950G= (n.913-7950G=)
c.321-7950G=
c.*476-7950G= (n.*476-7950G=)
c.57-7950G=
11g.71083225C>GCA679877872SHANK2c.913-7950G>C (n.913-7950G>C)
c.321-7950G>C
c.*476-7950G>C (n.*476-7950G>C)
c.57-7950G>C
 dbSNP
11g.71083226C>ACA939358607SHANK2c.913-7951G>T (n.913-7951G>T)
c.321-7951G>T
c.*476-7951G>T (n.*476-7951G>T)
c.57-7951G>T
 dbSNP gnomAD v3 gnomAD v4
11g.71083226C=CA1981314368SHANK2c.913-7951G= (n.913-7951G=)
c.321-7951G=
c.*476-7951G= (n.*476-7951G=)
c.57-7951G=
11g.71083230G>ACA939358608SHANK2c.913-7955C>T (n.913-7955C>T)
c.321-7955C>T
c.*476-7955C>T (n.*476-7955C>T)
c.57-7955C>T
 dbSNP gnomAD v3 gnomAD v4
11g.71083230G=CA1981314369SHANK2c.913-7955C= (n.913-7955C=)
c.321-7955C=
c.*476-7955C= (n.*476-7955C=)
c.57-7955C=
11g.71083231T>CCA1981314371SHANK2c.913-7956A>G (n.913-7956A>G)
c.321-7956A>G
c.*476-7956A>G (n.*476-7956A>G)
c.57-7956A>G
 dbSNP
11g.71083231T=CA1981314370SHANK2c.913-7956A= (n.913-7956A=)
c.321-7956A=
c.*476-7956A= (n.*476-7956A=)
c.57-7956A=
11g.71083232G>ACA1981314373SHANK2c.913-7957C>T (n.913-7957C>T)
c.321-7957C>T
c.*476-7957C>T (n.*476-7957C>T)
c.57-7957C>T
 dbSNP
11g.71083232G=CA1981314372SHANK2c.913-7957C= (n.913-7957C=)
c.321-7957C=
c.*476-7957C= (n.*476-7957C=)
c.57-7957C=
11g.71083233C>ACA679877880SHANK2c.913-7958G>T (n.913-7958G>T)
c.321-7958G>T
c.*476-7958G>T (n.*476-7958G>T)
c.57-7958G>T
 dbSNP
11g.71083233C=CA1981314374SHANK2c.913-7958G= (n.913-7958G=)
c.321-7958G=
c.*476-7958G= (n.*476-7958G=)
c.57-7958G=
11g.71083233C>TCA679877875SHANK2c.913-7958G>A (n.913-7958G>A)
c.321-7958G>A
c.*476-7958G>A (n.*476-7958G>A)
c.57-7958G>A
 dbSNP gnomAD v3 gnomAD v4
11g.71083234C>ACA679877883SHANK2c.913-7959G>T (n.913-7959G>T)
c.321-7959G>T
c.*476-7959G>T (n.*476-7959G>T)
c.57-7959G>T
 dbSNP
11g.71083234C=CA1981314375SHANK2c.913-7959G= (n.913-7959G=)
c.321-7959G=
c.*476-7959G= (n.*476-7959G=)
c.57-7959G=
11g.71083236A=CA1981314376SHANK2c.913-7961T= (n.913-7961T=)
c.321-7961T=
c.*476-7961T= (n.*476-7961T=)
c.57-7961T=
11g.71083236A>GCA939358609SHANK2c.913-7961T>C (n.913-7961T>C)
c.321-7961T>C
c.*476-7961T>C (n.*476-7961T>C)
c.57-7961T>C
 dbSNP gnomAD v3 gnomAD v4
11g.71083237G>ACA679877884SHANK2c.913-7962C>T (n.913-7962C>T)
c.321-7962C>T
c.*476-7962C>T (n.*476-7962C>T)
c.57-7962C>T
 dbSNP
11g.71083237G=CA1981314377SHANK2c.913-7962C= (n.913-7962C=)
c.321-7962C=
c.*476-7962C= (n.*476-7962C=)
c.57-7962C=
11g.71083239C>ACA2571905612SHANK2c.913-7964G>T (n.913-7964G>T)
c.321-7964G>T
c.*476-7964G>T (n.*476-7964G>T)
c.57-7964G>T
11g.71083243T>CCA939358611SHANK2c.913-7968A>G (n.913-7968A>G)
c.321-7968A>G
c.*476-7968A>G (n.*476-7968A>G)
c.57-7968A>G
 dbSNP gnomAD v3 gnomAD v4
11g.71083243T=CA1981314378SHANK2c.913-7968A= (n.913-7968A=)
c.321-7968A=
c.*476-7968A= (n.*476-7968A=)
c.57-7968A=
11g.71083244G>ACA224325471SHANK2c.913-7969C>T (n.913-7969C>T)
c.321-7969C>T
c.*476-7969C>T (n.*476-7969C>T)
c.57-7969C>T
 dbSNP
11g.71083244G>CCA679877888SHANK2c.913-7969C>G (n.913-7969C>G)
c.321-7969C>G
c.*476-7969C>G (n.*476-7969C>G)
c.57-7969C>G
 dbSNP gnomAD v3 gnomAD v4
11g.71083244G=CA1981314379SHANK2c.913-7969C= (n.913-7969C=)
c.321-7969C=
c.*476-7969C= (n.*476-7969C=)
c.57-7969C=
11g.71083250_71083254delinsTTTACCA1981314380SHANK2c.913-7979_913-7975delinsGTAAA (n.913-7979_913-7975delinsGTAAA)
c.321-7979_321-7975delinsGTAAA
c.*476-7979_*476-7975delinsGTAAA (n.*476-7979_*476-7975delinsGTAAA)
c.57-7979_57-7975delinsGTAAA
11g.71083253_71083256delCA1981314381SHANK2c.913-7979_913-7976del (n.913-7979_913-7976del)
c.321-7979_321-7976del
c.*476-7979_*476-7976del (n.*476-7979_*476-7976del)
c.57-7979_57-7976del
 dbSNP
11g.71083254C=CA1981314382SHANK2c.913-7979G= (n.913-7979G=)
c.321-7979G=
c.*476-7979G= (n.*476-7979G=)
c.57-7979G=
11g.71083254C>TCA1981314383SHANK2c.913-7979G>A (n.913-7979G>A)
c.321-7979G>A
c.*476-7979G>A (n.*476-7979G>A)
c.57-7979G>A
 dbSNP
11g.71083255T>GCA224325488SHANK2c.913-7980A>C (n.913-7980A>C)
c.321-7980A>C
c.*476-7980A>C (n.*476-7980A>C)
c.57-7980A>C
 dbSNP gnomAD v3 gnomAD v4
11g.71083255T=CA1981314384SHANK2c.913-7980A= (n.913-7980A=)
c.321-7980A=
c.*476-7980A= (n.*476-7980A=)
c.57-7980A=
11g.71083256T>CCA679877893SHANK2c.913-7981A>G (n.913-7981A>G)
c.321-7981A>G
c.*476-7981A>G (n.*476-7981A>G)
c.57-7981A>G
 dbSNP gnomAD v3 gnomAD v4
11g.71083256T=CA1981314385SHANK2c.913-7981A= (n.913-7981A=)
c.321-7981A=
c.*476-7981A= (n.*476-7981A=)
c.57-7981A=
11g.71083258delCA2792612837SHANK2c.913-7983del (n.913-7983del)
c.321-7983del
c.*476-7983del (n.*476-7983del)
c.57-7983del
11g.71083258T>GCA1981314386SHANK2c.913-7983A>C (n.913-7983A>C)
c.321-7983A>C
c.*476-7983A>C (n.*476-7983A>C)
c.57-7983A>C
 dbSNP
11g.71083258T=CA1981314387SHANK2c.913-7983A= (n.913-7983A=)
c.321-7983A=
c.*476-7983A= (n.*476-7983A=)
c.57-7983A=
11g.71083259A=CA1981314388SHANK2c.913-7984T= (n.913-7984T=)
c.321-7984T=
c.*476-7984T= (n.*476-7984T=)
c.57-7984T=
11g.71083259A>CCA1981314389SHANK2c.913-7984T>G (n.913-7984T>G)
c.321-7984T>G
c.*476-7984T>G (n.*476-7984T>G)
c.57-7984T>G
 dbSNP
11g.71083267C=CA1981314390SHANK2c.913-7992G= (n.913-7992G=)
c.321-7992G=
c.*476-7992G= (n.*476-7992G=)
c.57-7992G=
11g.71083267C>TCA224325497SHANK2c.913-7992G>A (n.913-7992G>A)
c.321-7992G>A
c.*476-7992G>A (n.*476-7992G>A)
c.57-7992G>A
 dbSNP gnomAD v3 gnomAD v4
11g.71083268G>ACA224325506SHANK2c.913-7993C>T (n.913-7993C>T)
c.321-7993C>T
c.*476-7993C>T (n.*476-7993C>T)
c.57-7993C>T
 dbSNP gnomAD v3 gnomAD v4
11g.71083268G=CA1981314391SHANK2c.913-7993C= (n.913-7993C=)
c.321-7993C=
c.*476-7993C= (n.*476-7993C=)
c.57-7993C=
11g.71083268G>TCA939358615SHANK2c.913-7993C>A (n.913-7993C>A)
c.321-7993C>A
c.*476-7993C>A (n.*476-7993C>A)
c.57-7993C>A
 dbSNP gnomAD v3 gnomAD v4
11g.71083270C=CA1981314392SHANK2c.913-7995G= (n.913-7995G=)
c.321-7995G=
c.*476-7995G= (n.*476-7995G=)
c.57-7995G=
11g.71083270C>TCA1981314393SHANK2c.913-7995G>A (n.913-7995G>A)
c.321-7995G>A
c.*476-7995G>A (n.*476-7995G>A)
c.57-7995G>A
 dbSNP
11g.71083274C=CA1981314394SHANK2c.913-7999G= (n.913-7999G=)
c.321-7999G=
c.*476-7999G= (n.*476-7999G=)
c.57-7999G=
11g.71083274C>TCA224325536SHANK2c.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
11g.71083275G>ACA224325555SHANK2c.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
11g.71083275G=CA1981314395SHANK2c.913-8000C= (n.913-8000C=)
c.321-8000C=
c.*476-8000C= (n.*476-8000C=)
c.57-8000C=
11g.71083282_71083285delinsCATGCA1981314396SHANK2c.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
11g.71083290_71083292delCA679877903SHANK2c.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
11g.71083285_71083294delinsGATGATGACACA1981314397SHANK2c.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
11g.71083286A=CA1981314398SHANK2c.913-8011T= (n.913-8011T=)
c.321-8011T=
c.*476-8011T= (n.*476-8011T=)
c.57-8011T=
11g.71083286A>TCA939358623SHANK2c.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
11g.71083299_71083307dupCA939358620SHANK2c.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
11g.71083299_71083307delCA679877907SHANK2c.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
11g.71083287dupCA939358626SHANK2c.913-8012dup (n.913-8012dup)
c.321-8012dup
c.*476-8012dup (n.*476-8012dup)
c.57-8012dup
 dbSNP gnomAD v3 gnomAD v4
11g.71083288G>ACA1981314400SHANK2c.913-8013C>T (n.913-8013C>T)
c.321-8013C>T
c.*476-8013C>T (n.*476-8013C>T)
c.57-8013C>T
 dbSNP
11g.71083288G=CA1981314399SHANK2c.913-8013C= (n.913-8013C=)
c.321-8013C=
c.*476-8013C= (n.*476-8013C=)
c.57-8013C=
11g.71083290T>CCA2598832510SHANK2c.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
11g.71083290_71083293delinsTGACCA1981314401SHANK2c.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
11g.71083291_71083293delCA679877912SHANK2c.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
11g.71083292A>TCA2792612840SHANK2c.913-8017T>A (n.913-8017T>A)
c.321-8017T>A
c.*476-8017T>A (n.*476-8017T>A)
c.57-8017T>A
11g.71083296T>CCA939358627SHANK2c.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
11g.71083296T=CA1981314403SHANK2c.913-8021A= (n.913-8021A=)
c.321-8021A=
c.*476-8021A= (n.*476-8021A=)
c.57-8021A=
11g.71083296_71083308delinsTGATGACAATGAGCA1981314402SHANK2c.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
11g.71083302_71083313delCA679877914SHANK2c.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
11g.71083298A=CA1981314404SHANK2c.913-8023T= (n.913-8023T=)
c.321-8023T=
c.*476-8023T= (n.*476-8023T=)
c.57-8023T=
11g.71083298A>GCA224325575SHANK2c.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
11g.71083300G>ACA679877916SHANK2c.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
11g.71083300G=CA1981314405SHANK2c.913-8025C= (n.913-8025C=)
c.321-8025C=
c.*476-8025C= (n.*476-8025C=)
c.57-8025C=
11g.71083300G>TCA939358629SHANK2c.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
11g.71083304A=CA1981314406SHANK2c.913-8029T= (n.913-8029T=)
c.321-8029T=
c.*476-8029T= (n.*476-8029T=)
c.57-8029T=
11g.71083304A>CCA679877921SHANK2c.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
11g.71083312G>TCA2792612841SHANK2c.913-8037C>A (n.913-8037C>A)
c.321-8037C>A
c.*476-8037C>A (n.*476-8037C>A)
c.57-8037C>A
11g.71083314T>CCA679877929SHANK2c.913-8039A>G (n.913-8039A>G)
c.321-8039A>G
c.*476-8039A>G (n.*476-8039A>G)
c.57-8039A>G
 dbSNP
11g.71083314T=CA1981314407SHANK2c.913-8039A= (n.913-8039A=)
c.321-8039A=
c.*476-8039A= (n.*476-8039A=)
c.57-8039A=
11g.71083315G>ACA224325590SHANK2c.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
11g.71083315G=CA1981314408SHANK2c.913-8040C= (n.913-8040C=)
c.321-8040C=
c.*476-8040C= (n.*476-8040C=)
c.57-8040C=
11g.71083317_71083318delinsTGCA1981314409SHANK2c.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

Number of alleles fetched