Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
11 | g.71083376G>A | CA224325655 | SHANK2 | c.913-8101C>T (n.913-8101C>T) c.321-8101C>T c.*476-8101C>T (n.*476-8101C>T) c.57-8101C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083376G= | CA1981314434 | SHANK2 | c.913-8101C= (n.913-8101C=) c.321-8101C= c.*476-8101C= (n.*476-8101C=) c.57-8101C= | |
11 | g.71083379C>T | CA2792612843 | SHANK2 | c.913-8104G>A (n.913-8104G>A) c.321-8104G>A c.*476-8104G>A (n.*476-8104G>A) c.57-8104G>A | |
11 | g.71083381C= | CA1981314435 | SHANK2 | c.913-8106G= (n.913-8106G=) c.321-8106G= c.*476-8106G= (n.*476-8106G=) c.57-8106G= | |
11 | g.71083381C>T | CA679877953 | SHANK2 | c.913-8106G>A (n.913-8106G>A) c.321-8106G>A c.*476-8106G>A (n.*476-8106G>A) c.57-8106G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083386G>C | CA679877957 | SHANK2 | c.913-8111C>G (n.913-8111C>G) c.321-8111C>G c.*476-8111C>G (n.*476-8111C>G) c.57-8111C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083386G= | CA1981314436 | SHANK2 | c.913-8111C= (n.913-8111C=) c.321-8111C= c.*476-8111C= (n.*476-8111C=) c.57-8111C= | |
11 | g.71083392G>A | CA939358648 | SHANK2 | c.913-8117C>T (n.913-8117C>T) c.321-8117C>T c.*476-8117C>T (n.*476-8117C>T) c.57-8117C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083392G= | CA1981314437 | SHANK2 | c.913-8117C= (n.913-8117C=) c.321-8117C= c.*476-8117C= (n.*476-8117C=) c.57-8117C= | |
11 | g.71083393C= | CA1981314438 | SHANK2 | c.913-8118G= (n.913-8118G=) c.321-8118G= c.*476-8118G= (n.*476-8118G=) c.57-8118G= | |
11 | g.71083393C>T | CA224325667 | SHANK2 | c.913-8118G>A (n.913-8118G>A) c.321-8118G>A c.*476-8118G>A (n.*476-8118G>A) c.57-8118G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083398C= | CA1981314439 | SHANK2 | c.913-8123G= (n.913-8123G=) c.321-8123G= c.*476-8123G= (n.*476-8123G=) c.57-8123G= | |
11 | g.71083398C>G | CA224325672 | SHANK2 | c.913-8123G>C (n.913-8123G>C) c.321-8123G>C c.*476-8123G>C (n.*476-8123G>C) c.57-8123G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083398C>T | CA679877962 | SHANK2 | c.913-8123G>A (n.913-8123G>A) c.321-8123G>A c.*476-8123G>A (n.*476-8123G>A) c.57-8123G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083399G>A | CA224325692 | SHANK2 | c.913-8124C>T (n.913-8124C>T) c.321-8124C>T c.*476-8124C>T (n.*476-8124C>T) c.57-8124C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083399G= | CA1981314440 | SHANK2 | c.913-8124C= (n.913-8124C=) c.321-8124C= c.*476-8124C= (n.*476-8124C=) c.57-8124C= | |
11 | g.71083401A= | CA1981314441 | SHANK2 | c.913-8126T= (n.913-8126T=) c.321-8126T= c.*476-8126T= (n.*476-8126T=) c.57-8126T= | |
11 | g.71083401A>G | CA679877970 | SHANK2 | c.913-8126T>C (n.913-8126T>C) c.321-8126T>C c.*476-8126T>C (n.*476-8126T>C) c.57-8126T>C | dbSNP |
11 | g.71083403A= | CA1981314443 | SHANK2 | c.913-8128T= (n.913-8128T=) c.321-8128T= c.*476-8128T= (n.*476-8128T=) c.57-8128T= | |
11 | g.71083403A>G | CA1981314442 | SHANK2 | c.913-8128T>C (n.913-8128T>C) c.321-8128T>C c.*476-8128T>C (n.*476-8128T>C) c.57-8128T>C | dbSNP |
11 | g.71083404_71083406delinsTTC | CA1981314444 | SHANK2 | c.913-8131_913-8129delinsGAA (n.913-8131_913-8129delinsGAA) c.321-8131_321-8129delinsGAA c.*476-8131_*476-8129delinsGAA (n.*476-8131_*476-8129delinsGAA) c.57-8131_57-8129delinsGAA | |
11 | g.71083405T>C | CA1981314447 | SHANK2 | c.913-8130A>G (n.913-8130A>G) c.321-8130A>G c.*476-8130A>G (n.*476-8130A>G) c.57-8130A>G | dbSNP |
11 | g.71083405T= | CA1981314445 | SHANK2 | c.913-8130A= (n.913-8130A=) c.321-8130A= c.*476-8130A= (n.*476-8130A=) c.57-8130A= | |
11 | g.71083406_71083407del | CA1981314446 | SHANK2 | c.913-8131_913-8130del (n.913-8131_913-8130del) c.321-8131_321-8130del c.*476-8131_*476-8130del (n.*476-8131_*476-8130del) c.57-8131_57-8130del | dbSNP |
11 | g.71083407T>A | CA10639278 | SHANK2 | c.913-8132A>T (n.913-8132A>T) c.321-8132A>T c.*476-8132A>T (n.*476-8132A>T) c.57-8132A>T | |
11 | g.71083412T>C | CA679877972 | SHANK2 | c.913-8137A>G (n.913-8137A>G) c.321-8137A>G c.*476-8137A>G (n.*476-8137A>G) c.57-8137A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083412T= | CA1981314448 | SHANK2 | c.913-8137A= (n.913-8137A=) c.321-8137A= c.*476-8137A= (n.*476-8137A=) c.57-8137A= | |
11 | g.71083414G>A | CA939358652 | SHANK2 | c.913-8139C>T (n.913-8139C>T) c.321-8139C>T c.*476-8139C>T (n.*476-8139C>T) c.57-8139C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083414G= | CA1981314449 | SHANK2 | c.913-8139C= (n.913-8139C=) c.321-8139C= c.*476-8139C= (n.*476-8139C=) c.57-8139C= | |
11 | g.71083414G>T | CA2792612845 | SHANK2 | c.913-8139C>A (n.913-8139C>A) c.321-8139C>A c.*476-8139C>A (n.*476-8139C>A) c.57-8139C>A | |
11 | g.71083415C= | CA1981314450 | SHANK2 | c.913-8140G= (n.913-8140G=) c.321-8140G= c.*476-8140G= (n.*476-8140G=) c.57-8140G= | |
11 | g.71083415C>T | CA1981314451 | SHANK2 | c.913-8140G>A (n.913-8140G>A) c.321-8140G>A c.*476-8140G>A (n.*476-8140G>A) c.57-8140G>A | dbSNP |
11 | g.71083417G>A | CA939358655 | SHANK2 | c.913-8142C>T (n.913-8142C>T) c.321-8142C>T c.*476-8142C>T (n.*476-8142C>T) c.57-8142C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083417G= | CA1981314452 | SHANK2 | c.913-8142C= (n.913-8142C=) c.321-8142C= c.*476-8142C= (n.*476-8142C=) c.57-8142C= | |
11 | g.71083419C= | CA1981314453 | SHANK2 | c.913-8144G= (n.913-8144G=) c.321-8144G= c.*476-8144G= (n.*476-8144G=) c.57-8144G= | |
11 | g.71083419C>T | CA1981314454 | SHANK2 | c.913-8144G>A (n.913-8144G>A) c.321-8144G>A c.*476-8144G>A (n.*476-8144G>A) c.57-8144G>A | dbSNP |
11 | g.71083421C= | CA1981314455 | SHANK2 | c.913-8146G= (n.913-8146G=) c.321-8146G= c.*476-8146G= (n.*476-8146G=) c.57-8146G= | |
11 | g.71083421C>G | CA2724354457 | SHANK2 | c.913-8146G>C (n.913-8146G>C) c.321-8146G>C c.*476-8146G>C (n.*476-8146G>C) c.57-8146G>C | dbSNP |
11 | g.71083421C>T | CA939358656 | SHANK2 | c.913-8146G>A (n.913-8146G>A) c.321-8146G>A c.*476-8146G>A (n.*476-8146G>A) c.57-8146G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083424G= | CA1981314456 | SHANK2 | c.913-8149C= (n.913-8149C=) c.321-8149C= c.*476-8149C= (n.*476-8149C=) c.57-8149C= | |
11 | g.71083424G>T | CA1981314457 | SHANK2 | c.913-8149C>A (n.913-8149C>A) c.321-8149C>A c.*476-8149C>A (n.*476-8149C>A) c.57-8149C>A | dbSNP |
11 | g.71083430T>G | CA1981314459 | SHANK2 | c.913-8155A>C (n.913-8155A>C) c.321-8155A>C c.*476-8155A>C (n.*476-8155A>C) c.57-8155A>C | dbSNP |
11 | g.71083430T= | CA1981314458 | SHANK2 | c.913-8155A= (n.913-8155A=) c.321-8155A= c.*476-8155A= (n.*476-8155A=) c.57-8155A= | |
11 | g.71083433A= | CA1981314460 | SHANK2 | c.913-8158T= (n.913-8158T=) c.321-8158T= c.*476-8158T= (n.*476-8158T=) c.57-8158T= | |
11 | g.71083433A>G | CA679877973 | SHANK2 | c.913-8158T>C (n.913-8158T>C) c.321-8158T>C c.*476-8158T>C (n.*476-8158T>C) c.57-8158T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083438G>A | CA224325704 | SHANK2 | c.913-8163C>T (n.913-8163C>T) c.321-8163C>T c.*476-8163C>T (n.*476-8163C>T) c.57-8163C>T | dbSNP |
11 | g.71083438G= | CA1981314461 | SHANK2 | c.913-8163C= (n.913-8163C=) c.321-8163C= c.*476-8163C= (n.*476-8163C=) c.57-8163C= | |
11 | g.71083442C= | CA1981314462 | SHANK2 | c.913-8167G= (n.913-8167G=) c.321-8167G= c.*476-8167G= (n.*476-8167G=) c.57-8167G= | |
11 | g.71083442C>T | CA224325710 | SHANK2 | c.913-8167G>A (n.913-8167G>A) c.321-8167G>A c.*476-8167G>A (n.*476-8167G>A) c.57-8167G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083446G>A | CA1981314464 | SHANK2 | c.913-8171C>T (n.913-8171C>T) c.321-8171C>T c.*476-8171C>T (n.*476-8171C>T) c.57-8171C>T | dbSNP |
11 | g.71083446G= | CA1981314463 | SHANK2 | c.913-8171C= (n.913-8171C=) c.321-8171C= c.*476-8171C= (n.*476-8171C=) c.57-8171C= | |
11 | g.71083448C>A | CA224325711 | SHANK2 | c.913-8173G>T (n.913-8173G>T) c.321-8173G>T c.*476-8173G>T (n.*476-8173G>T) c.57-8173G>T | dbSNP |
11 | g.71083448C= | CA1981314465 | SHANK2 | c.913-8173G= (n.913-8173G=) c.321-8173G= c.*476-8173G= (n.*476-8173G=) c.57-8173G= | |
11 | g.71083451C>A | CA679877980 | SHANK2 | c.913-8176G>T (n.913-8176G>T) c.321-8176G>T c.*476-8176G>T (n.*476-8176G>T) c.57-8176G>T | dbSNP |
11 | g.71083451C= | CA1981314466 | SHANK2 | c.913-8176G= (n.913-8176G=) c.321-8176G= c.*476-8176G= (n.*476-8176G=) c.57-8176G= | |
11 | g.71083456G>A | CA679877981 | SHANK2 | c.913-8181C>T (n.913-8181C>T) c.321-8181C>T c.*476-8181C>T (n.*476-8181C>T) c.57-8181C>T | dbSNP |
11 | g.71083456G= | CA1981314467 | SHANK2 | c.913-8181C= (n.913-8181C=) c.321-8181C= c.*476-8181C= (n.*476-8181C=) c.57-8181C= | |
11 | g.71083462A>G | CA2835854568 | SHANK2 | c.913-8187T>C (n.913-8187T>C) c.321-8187T>C c.*476-8187T>C (n.*476-8187T>C) c.57-8187T>C | |
11 | g.71083464C>A | CA1981314469 | SHANK2 | c.913-8189G>T (n.913-8189G>T) c.321-8189G>T c.*476-8189G>T (n.*476-8189G>T) c.57-8189G>T | dbSNP |
11 | g.71083464C= | CA1981314468 | SHANK2 | c.913-8189G= (n.913-8189G=) c.321-8189G= c.*476-8189G= (n.*476-8189G=) c.57-8189G= | |
11 | g.71083465A= | CA1981314470 | SHANK2 | c.913-8190T= (n.913-8190T=) c.321-8190T= c.*476-8190T= (n.*476-8190T=) c.57-8190T= | |
11 | g.71083465A>G | CA939358657 | SHANK2 | c.913-8190T>C (n.913-8190T>C) c.321-8190T>C c.*476-8190T>C (n.*476-8190T>C) c.57-8190T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71083467A= | CA1981314471 | SHANK2 | c.913-8192T= (n.913-8192T=) c.321-8192T= c.*476-8192T= (n.*476-8192T=) c.57-8192T= | |
11 | g.71083467A>G | CA1981314472 | SHANK2 | c.913-8192T>C (n.913-8192T>C) c.321-8192T>C c.*476-8192T>C (n.*476-8192T>C) c.57-8192T>C | dbSNP |
11 | g.71083468C= | CA1981314473 | SHANK2 | c.913-8193G= (n.913-8193G=) c.321-8193G= c.*476-8193G= (n.*476-8193G=) c.57-8193G= | |
11 | g.71083468C>T | CA224325716 | SHANK2 | c.913-8193G>A (n.913-8193G>A) c.321-8193G>A c.*476-8193G>A (n.*476-8193G>A) c.57-8193G>A | dbSNP gnomAD v3 gnomAD v4 |