Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
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 |