Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71083216T>C | CA679877865 | SHANK2 | c.913-7941A>G (n.913-7941A>G) c.321-7941A>G c.*476-7941A>G (n.*476-7941A>G) c.57-7941A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083216T= | CA1981314363 | SHANK2 | c.913-7941A= (n.913-7941A=) c.321-7941A= c.*476-7941A= (n.*476-7941A=) c.57-7941A= | |
11 | g.71083217A>G | CA2569178132 | SHANK2 | c.913-7942T>C (n.913-7942T>C) c.321-7942T>C c.*476-7942T>C (n.*476-7942T>C) c.57-7942T>C | |
11 | g.71083218G>A | CA939358606 | SHANK2 | c.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 |
11 | g.71083218G= | CA1981314364 | SHANK2 | c.913-7943C= (n.913-7943C=) c.321-7943C= c.*476-7943C= (n.*476-7943C=) c.57-7943C= | |
11 | g.71083224G= | CA1981314365 | SHANK2 | c.913-7949C= (n.913-7949C=) c.321-7949C= c.*476-7949C= (n.*476-7949C=) c.57-7949C= | |
11 | g.71083224G>T | CA1981314366 | SHANK2 | c.913-7949C>A (n.913-7949C>A) c.321-7949C>A c.*476-7949C>A (n.*476-7949C>A) c.57-7949C>A | dbSNP |
11 | g.71083225C= | CA1981314367 | SHANK2 | c.913-7950G= (n.913-7950G=) c.321-7950G= c.*476-7950G= (n.*476-7950G=) c.57-7950G= | |
11 | g.71083225C>G | CA679877872 | SHANK2 | c.913-7950G>C (n.913-7950G>C) c.321-7950G>C c.*476-7950G>C (n.*476-7950G>C) c.57-7950G>C | dbSNP |
11 | g.71083226C>A | CA939358607 | SHANK2 | c.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 |
11 | g.71083226C= | CA1981314368 | SHANK2 | c.913-7951G= (n.913-7951G=) c.321-7951G= c.*476-7951G= (n.*476-7951G=) c.57-7951G= | |
11 | g.71083230G>A | CA939358608 | SHANK2 | c.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 |
11 | g.71083230G= | CA1981314369 | SHANK2 | c.913-7955C= (n.913-7955C=) c.321-7955C= c.*476-7955C= (n.*476-7955C=) c.57-7955C= | |
11 | g.71083231T>C | CA1981314371 | SHANK2 | c.913-7956A>G (n.913-7956A>G) c.321-7956A>G c.*476-7956A>G (n.*476-7956A>G) c.57-7956A>G | dbSNP |
11 | g.71083231T= | CA1981314370 | SHANK2 | c.913-7956A= (n.913-7956A=) c.321-7956A= c.*476-7956A= (n.*476-7956A=) c.57-7956A= | |
11 | g.71083232G>A | CA1981314373 | SHANK2 | c.913-7957C>T (n.913-7957C>T) c.321-7957C>T c.*476-7957C>T (n.*476-7957C>T) c.57-7957C>T | dbSNP |
11 | g.71083232G= | CA1981314372 | SHANK2 | c.913-7957C= (n.913-7957C=) c.321-7957C= c.*476-7957C= (n.*476-7957C=) c.57-7957C= | |
11 | g.71083233C>A | CA679877880 | SHANK2 | c.913-7958G>T (n.913-7958G>T) c.321-7958G>T c.*476-7958G>T (n.*476-7958G>T) c.57-7958G>T | dbSNP |
11 | g.71083233C= | CA1981314374 | SHANK2 | c.913-7958G= (n.913-7958G=) c.321-7958G= c.*476-7958G= (n.*476-7958G=) c.57-7958G= | |
11 | g.71083233C>T | CA679877875 | SHANK2 | c.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 |
11 | g.71083234C>A | CA679877883 | SHANK2 | c.913-7959G>T (n.913-7959G>T) c.321-7959G>T c.*476-7959G>T (n.*476-7959G>T) c.57-7959G>T | dbSNP |
11 | g.71083234C= | CA1981314375 | SHANK2 | c.913-7959G= (n.913-7959G=) c.321-7959G= c.*476-7959G= (n.*476-7959G=) c.57-7959G= | |
11 | g.71083236A= | CA1981314376 | SHANK2 | c.913-7961T= (n.913-7961T=) c.321-7961T= c.*476-7961T= (n.*476-7961T=) c.57-7961T= | |
11 | g.71083236A>G | CA939358609 | SHANK2 | c.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 |
11 | g.71083237G>A | CA679877884 | SHANK2 | c.913-7962C>T (n.913-7962C>T) c.321-7962C>T c.*476-7962C>T (n.*476-7962C>T) c.57-7962C>T | dbSNP |
11 | g.71083237G= | CA1981314377 | SHANK2 | c.913-7962C= (n.913-7962C=) c.321-7962C= c.*476-7962C= (n.*476-7962C=) c.57-7962C= | |
11 | g.71083239C>A | CA2571905612 | SHANK2 | c.913-7964G>T (n.913-7964G>T) c.321-7964G>T c.*476-7964G>T (n.*476-7964G>T) c.57-7964G>T | |
11 | g.71083243T>C | CA939358611 | SHANK2 | c.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 |
11 | g.71083243T= | CA1981314378 | SHANK2 | c.913-7968A= (n.913-7968A=) c.321-7968A= c.*476-7968A= (n.*476-7968A=) c.57-7968A= | |
11 | g.71083244G>A | CA224325471 | SHANK2 | c.913-7969C>T (n.913-7969C>T) c.321-7969C>T c.*476-7969C>T (n.*476-7969C>T) c.57-7969C>T | dbSNP |
11 | g.71083244G>C | CA679877888 | SHANK2 | c.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 |
11 | g.71083244G= | CA1981314379 | SHANK2 | c.913-7969C= (n.913-7969C=) c.321-7969C= c.*476-7969C= (n.*476-7969C=) c.57-7969C= | |
11 | g.71083250_71083254delinsTTTAC | CA1981314380 | SHANK2 | c.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 | |
11 | g.71083253_71083256del | CA1981314381 | SHANK2 | c.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 |
11 | g.71083254C= | CA1981314382 | SHANK2 | c.913-7979G= (n.913-7979G=) c.321-7979G= c.*476-7979G= (n.*476-7979G=) c.57-7979G= | |
11 | g.71083254C>T | CA1981314383 | SHANK2 | c.913-7979G>A (n.913-7979G>A) c.321-7979G>A c.*476-7979G>A (n.*476-7979G>A) c.57-7979G>A | dbSNP |
11 | g.71083255T>G | CA224325488 | SHANK2 | c.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 |
11 | g.71083255T= | CA1981314384 | SHANK2 | c.913-7980A= (n.913-7980A=) c.321-7980A= c.*476-7980A= (n.*476-7980A=) c.57-7980A= | |
11 | g.71083256T>C | CA679877893 | SHANK2 | c.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 |
11 | g.71083256T= | CA1981314385 | SHANK2 | c.913-7981A= (n.913-7981A=) c.321-7981A= c.*476-7981A= (n.*476-7981A=) c.57-7981A= | |
11 | g.71083258del | CA2792612837 | SHANK2 | c.913-7983del (n.913-7983del) c.321-7983del c.*476-7983del (n.*476-7983del) c.57-7983del | |
11 | g.71083258T>G | CA1981314386 | SHANK2 | c.913-7983A>C (n.913-7983A>C) c.321-7983A>C c.*476-7983A>C (n.*476-7983A>C) c.57-7983A>C | dbSNP |
11 | g.71083258T= | CA1981314387 | SHANK2 | c.913-7983A= (n.913-7983A=) c.321-7983A= c.*476-7983A= (n.*476-7983A=) c.57-7983A= | |
11 | g.71083259A= | CA1981314388 | SHANK2 | c.913-7984T= (n.913-7984T=) c.321-7984T= c.*476-7984T= (n.*476-7984T=) c.57-7984T= | |
11 | g.71083259A>C | CA1981314389 | SHANK2 | c.913-7984T>G (n.913-7984T>G) c.321-7984T>G c.*476-7984T>G (n.*476-7984T>G) c.57-7984T>G | dbSNP |
11 | g.71083267C= | CA1981314390 | SHANK2 | c.913-7992G= (n.913-7992G=) c.321-7992G= c.*476-7992G= (n.*476-7992G=) c.57-7992G= | |
11 | g.71083267C>T | CA224325497 | SHANK2 | c.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 |
11 | g.71083268G>A | CA224325506 | SHANK2 | c.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 |
11 | g.71083268G= | CA1981314391 | SHANK2 | c.913-7993C= (n.913-7993C=) c.321-7993C= c.*476-7993C= (n.*476-7993C=) c.57-7993C= | |
11 | g.71083268G>T | CA939358615 | SHANK2 | c.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 |
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= |