Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71085204C=CA1981315293SHANK2c.912+7218G= (n.912+7218G=)
c.320+7218G=
c.*475+7218G= (n.*475+7218G=)
c.56+7218G=
11g.71085204C>GCA1981315294SHANK2c.912+7218G>C (n.912+7218G>C)
c.320+7218G>C
c.*475+7218G>C (n.*475+7218G>C)
c.56+7218G>C
dbSNP
11g.71085209C>ACA679879537SHANK2c.912+7213G>T (n.912+7213G>T)
c.320+7213G>T
c.*475+7213G>T (n.*475+7213G>T)
c.56+7213G>T
dbSNP gnomAD v3 gnomAD v4
11g.71085209C=CA1981315295SHANK2c.912+7213G= (n.912+7213G=)
c.320+7213G=
c.*475+7213G= (n.*475+7213G=)
c.56+7213G=
11g.71085217G>ACA224326785SHANK2c.912+7205C>T (n.912+7205C>T)
c.320+7205C>T
c.*475+7205C>T (n.*475+7205C>T)
c.56+7205C>T
dbSNP
11g.71085217G=CA1981315296SHANK2c.912+7205C= (n.912+7205C=)
c.320+7205C=
c.*475+7205C= (n.*475+7205C=)
c.56+7205C=
11g.71085219G>ACA224326786SHANK2c.912+7203C>T (n.912+7203C>T)
c.320+7203C>T
c.*475+7203C>T (n.*475+7203C>T)
c.56+7203C>T
dbSNP gnomAD v3 gnomAD v4
11g.71085219G=CA1981315297SHANK2c.912+7203C= (n.912+7203C=)
c.320+7203C=
c.*475+7203C= (n.*475+7203C=)
c.56+7203C=
11g.71085221T>CCA224326811SHANK2c.912+7201A>G (n.912+7201A>G)
c.320+7201A>G
c.*475+7201A>G (n.*475+7201A>G)
c.56+7201A>G
dbSNP gnomAD v3 gnomAD v4
11g.71085221T=CA1981315298SHANK2c.912+7201A= (n.912+7201A=)
c.320+7201A=
c.*475+7201A= (n.*475+7201A=)
c.56+7201A=
11g.71085222T>CCA939359008SHANK2c.912+7200A>G (n.912+7200A>G)
c.320+7200A>G
c.*475+7200A>G (n.*475+7200A>G)
c.56+7200A>G
gnomAD v3 gnomAD v4
11g.71085223G>ACA939359010SHANK2c.912+7199C>T (n.912+7199C>T)
c.320+7199C>T
c.*475+7199C>T (n.*475+7199C>T)
c.56+7199C>T
dbSNP gnomAD v3 gnomAD v4
11g.71085223G=CA1981315299SHANK2c.912+7199C= (n.912+7199C=)
c.320+7199C=
c.*475+7199C= (n.*475+7199C=)
c.56+7199C=
11g.71085225G>CCA224326822SHANK2c.912+7197C>G (n.912+7197C>G)
c.320+7197C>G
c.*475+7197C>G (n.*475+7197C>G)
c.56+7197C>G
dbSNP gnomAD v3 gnomAD v4
11g.71085225G=CA1981315300SHANK2c.912+7197C= (n.912+7197C=)
c.320+7197C=
c.*475+7197C= (n.*475+7197C=)
c.56+7197C=
11g.71085227A>CCA939359012SHANK2c.912+7195T>G (n.912+7195T>G)
c.320+7195T>G
c.*475+7195T>G (n.*475+7195T>G)
c.56+7195T>G
gnomAD v3 gnomAD v4
11g.71085227A>TCA939359013SHANK2c.912+7195T>A (n.912+7195T>A)
c.320+7195T>A
c.*475+7195T>A (n.*475+7195T>A)
c.56+7195T>A
gnomAD v3 gnomAD v4
11g.71085228G>ACA939359014SHANK2c.912+7194C>T (n.912+7194C>T)
c.320+7194C>T
c.*475+7194C>T (n.*475+7194C>T)
c.56+7194C>T
dbSNP gnomAD v3 gnomAD v4
11g.71085228G>CCA939359015SHANK2c.912+7194C>G (n.912+7194C>G)
c.320+7194C>G
c.*475+7194C>G (n.*475+7194C>G)
c.56+7194C>G
dbSNP gnomAD v3 gnomAD v4
11g.71085228G=CA1981315301SHANK2c.912+7194C= (n.912+7194C=)
c.320+7194C=
c.*475+7194C= (n.*475+7194C=)
c.56+7194C=
11g.71085230G>ACA2564844445SHANK2c.912+7192C>T (n.912+7192C>T)
c.320+7192C>T
c.*475+7192C>T (n.*475+7192C>T)
c.56+7192C>T
11g.71085230G>CCA224326823SHANK2c.912+7192C>G (n.912+7192C>G)
c.320+7192C>G
c.*475+7192C>G (n.*475+7192C>G)
c.56+7192C>G
dbSNP gnomAD v3 gnomAD v4
11g.71085230G=CA1981315302SHANK2c.912+7192C= (n.912+7192C=)
c.320+7192C=
c.*475+7192C= (n.*475+7192C=)
c.56+7192C=
11g.71085231C>ACA1981315304SHANK2c.912+7191G>T (n.912+7191G>T)
c.320+7191G>T
c.*475+7191G>T (n.*475+7191G>T)
c.56+7191G>T
dbSNP
11g.71085231C=CA1981315303SHANK2c.912+7191G= (n.912+7191G=)
c.320+7191G=
c.*475+7191G= (n.*475+7191G=)
c.56+7191G=
11g.71085232A>GCA939359016SHANK2c.912+7190T>C (n.912+7190T>C)
c.320+7190T>C
c.*475+7190T>C (n.*475+7190T>C)
c.56+7190T>C
gnomAD v3 gnomAD v4
11g.71085234_71085236delinsATCCA1981315305SHANK2c.912+7186_912+7188delinsGAT (n.912+7186_912+7188delinsGAT)
c.320+7186_320+7188delinsGAT
c.*475+7186_*475+7188delinsGAT (n.*475+7186_*475+7188delinsGAT)
c.56+7186_56+7188delinsGAT
11g.71085235T>ACA679879542SHANK2c.912+7187A>T (n.912+7187A>T)
c.320+7187A>T
c.*475+7187A>T (n.*475+7187A>T)
c.56+7187A>T
dbSNP gnomAD v3 gnomAD v4
11g.71085235T>CCA1981315307SHANK2c.912+7187A>G (n.912+7187A>G)
c.320+7187A>G
c.*475+7187A>G (n.*475+7187A>G)
c.56+7187A>G
dbSNP
11g.71085235T=CA1981315306SHANK2c.912+7187A= (n.912+7187A=)
c.320+7187A=
c.*475+7187A= (n.*475+7187A=)
c.56+7187A=
11g.71085235_71085236delCA1981315308SHANK2c.912+7186_912+7187del (n.912+7186_912+7187del)
c.320+7186_320+7187del
c.*475+7186_*475+7187del (n.*475+7186_*475+7187del)
c.56+7186_56+7187del
dbSNP
11g.71085236C>ACA224326836SHANK2c.912+7186G>T (n.912+7186G>T)
c.320+7186G>T
c.*475+7186G>T (n.*475+7186G>T)
c.56+7186G>T
dbSNP
11g.71085236C=CA1981315309SHANK2c.912+7186G= (n.912+7186G=)
c.320+7186G=
c.*475+7186G= (n.*475+7186G=)
c.56+7186G=
11g.71085241G>ACA939359017SHANK2c.912+7181C>T (n.912+7181C>T)
c.320+7181C>T
c.*475+7181C>T (n.*475+7181C>T)
c.56+7181C>T
dbSNP gnomAD v3 gnomAD v4
11g.71085241G>CCA1981315311SHANK2c.912+7181C>G (n.912+7181C>G)
c.320+7181C>G
c.*475+7181C>G (n.*475+7181C>G)
c.56+7181C>G
dbSNP
11g.71085241G=CA1981315310SHANK2c.912+7181C= (n.912+7181C=)
c.320+7181C=
c.*475+7181C= (n.*475+7181C=)
c.56+7181C=
11g.71085242A=CA1981315312SHANK2c.912+7180T= (n.912+7180T=)
c.320+7180T=
c.*475+7180T= (n.*475+7180T=)
c.56+7180T=
11g.71085242A>TCA939359018SHANK2c.912+7180T>A (n.912+7180T>A)
c.320+7180T>A
c.*475+7180T>A (n.*475+7180T>A)
c.56+7180T>A
dbSNP gnomAD v3 gnomAD v4
11g.71085243G>ACA1981315314SHANK2c.912+7179C>T (n.912+7179C>T)
c.320+7179C>T
c.*475+7179C>T (n.*475+7179C>T)
c.56+7179C>T
dbSNP
11g.71085243G=CA1981315313SHANK2c.912+7179C= (n.912+7179C=)
c.320+7179C=
c.*475+7179C= (n.*475+7179C=)
c.56+7179C=
11g.71085246C=CA1981315315SHANK2c.912+7176G= (n.912+7176G=)
c.320+7176G=
c.*475+7176G= (n.*475+7176G=)
c.56+7176G=
11g.71085246C>TCA1981315316SHANK2c.912+7176G>A (n.912+7176G>A)
c.320+7176G>A
c.*475+7176G>A (n.*475+7176G>A)
c.56+7176G>A
dbSNP
11g.71085248G>ACA2792612917SHANK2c.912+7174C>T (n.912+7174C>T)
c.320+7174C>T
c.*475+7174C>T (n.*475+7174C>T)
c.56+7174C>T
11g.71085249G>ACA1981315318SHANK2c.912+7173C>T (n.912+7173C>T)
c.320+7173C>T
c.*475+7173C>T (n.*475+7173C>T)
c.56+7173C>T
dbSNP
11g.71085249G=CA1981315317SHANK2c.912+7173C= (n.912+7173C=)
c.320+7173C=
c.*475+7173C= (n.*475+7173C=)
c.56+7173C=
11g.71085251G=CA1981315319SHANK2c.912+7171C= (n.912+7171C=)
c.320+7171C=
c.*475+7171C= (n.*475+7171C=)
c.56+7171C=
11g.71085251G>TCA224326846SHANK2c.912+7171C>A (n.912+7171C>A)
c.320+7171C>A
c.*475+7171C>A (n.*475+7171C>A)
c.56+7171C>A
dbSNP gnomAD v3 gnomAD v4
11g.71085252T>ACA2792612918SHANK2c.912+7170A>T (n.912+7170A>T)
c.320+7170A>T
c.*475+7170A>T (n.*475+7170A>T)
c.56+7170A>T
11g.71085252T>CCA224326858SHANK2c.912+7170A>G (n.912+7170A>G)
c.320+7170A>G
c.*475+7170A>G (n.*475+7170A>G)
c.56+7170A>G
dbSNP gnomAD v3 gnomAD v4
11g.71085252T=CA1981315320SHANK2c.912+7170A= (n.912+7170A=)
c.320+7170A=
c.*475+7170A= (n.*475+7170A=)
c.56+7170A=
11g.71085254C=CA1981315321SHANK2c.912+7168G= (n.912+7168G=)
c.320+7168G=
c.*475+7168G= (n.*475+7168G=)
c.56+7168G=
11g.71085254C>TCA679879554SHANK2c.912+7168G>A (n.912+7168G>A)
c.320+7168G>A
c.*475+7168G>A (n.*475+7168G>A)
c.56+7168G>A
dbSNP gnomAD v3 gnomAD v4
11g.71085255G>ACA679879557SHANK2c.912+7167C>T (n.912+7167C>T)
c.320+7167C>T
c.*475+7167C>T (n.*475+7167C>T)
c.56+7167C>T
dbSNP gnomAD v3 gnomAD v4
11g.71085255G>CCA224326862SHANK2c.912+7167C>G (n.912+7167C>G)
c.320+7167C>G
c.*475+7167C>G (n.*475+7167C>G)
c.56+7167C>G
dbSNP gnomAD v3 gnomAD v4
11g.71085255G=CA1981315322SHANK2c.912+7167C= (n.912+7167C=)
c.320+7167C=
c.*475+7167C= (n.*475+7167C=)
c.56+7167C=
11g.71085259C>ACA1981315324SHANK2c.912+7163G>T (n.912+7163G>T)
c.320+7163G>T
c.*475+7163G>T (n.*475+7163G>T)
c.56+7163G>T
dbSNP
11g.71085259C=CA1981315323SHANK2c.912+7163G= (n.912+7163G=)
c.320+7163G=
c.*475+7163G= (n.*475+7163G=)
c.56+7163G=
11g.71085259C>TCA939359019SHANK2c.912+7163G>A (n.912+7163G>A)
c.320+7163G>A
c.*475+7163G>A (n.*475+7163G>A)
c.56+7163G>A
dbSNP gnomAD v3 gnomAD v4
11g.71085260A>CCA2792612919SHANK2c.912+7162T>G (n.912+7162T>G)
c.320+7162T>G
c.*475+7162T>G (n.*475+7162T>G)
c.56+7162T>G
11g.71085262G>ACA2512667033SHANK2c.912+7160C>T (n.912+7160C>T)
c.320+7160C>T
c.*475+7160C>T (n.*475+7160C>T)
c.56+7160C>T
11g.71085262G>TCA2792612920SHANK2c.912+7160C>A (n.912+7160C>A)
c.320+7160C>A
c.*475+7160C>A (n.*475+7160C>A)
c.56+7160C>A
11g.71085265T>ACA2792612921SHANK2c.912+7157A>T (n.912+7157A>T)
c.320+7157A>T
c.*475+7157A>T (n.*475+7157A>T)
c.56+7157A>T
11g.71085266A>GCA2792612922SHANK2c.912+7156T>C (n.912+7156T>C)
c.320+7156T>C
c.*475+7156T>C (n.*475+7156T>C)
c.56+7156T>C
11g.71085269C=CA1981315325SHANK2c.912+7153G= (n.912+7153G=)
c.320+7153G=
c.*475+7153G= (n.*475+7153G=)
c.56+7153G=
11g.71085269C>TCA679879565SHANK2c.912+7153G>A (n.912+7153G>A)
c.320+7153G>A
c.*475+7153G>A (n.*475+7153G>A)
c.56+7153G>A
dbSNP
11g.71085274T>CCA679879571SHANK2c.912+7148A>G (n.912+7148A>G)
c.320+7148A>G
c.*475+7148A>G (n.*475+7148A>G)
c.56+7148A>G
dbSNP gnomAD v3 gnomAD v4
11g.71085274T=CA1981315326SHANK2c.912+7148A= (n.912+7148A=)
c.320+7148A=
c.*475+7148A= (n.*475+7148A=)
c.56+7148A=
11g.71085275G>TCA2792612923SHANK2c.912+7147C>A (n.912+7147C>A)
c.320+7147C>A
c.*475+7147C>A (n.*475+7147C>A)
c.56+7147C>A
11g.71085276T>CCA679879576SHANK2c.912+7146A>G (n.912+7146A>G)
c.320+7146A>G
c.*475+7146A>G (n.*475+7146A>G)
c.56+7146A>G
dbSNP gnomAD v3 gnomAD v4
11g.71085276T>GCA2792612924SHANK2c.912+7146A>C (n.912+7146A>C)
c.320+7146A>C
c.*475+7146A>C (n.*475+7146A>C)
c.56+7146A>C
11g.71085276T=CA1981315327SHANK2c.912+7146A= (n.912+7146A=)
c.320+7146A=
c.*475+7146A= (n.*475+7146A=)
c.56+7146A=
11g.71085277T>CCA939359021SHANK2c.912+7145A>G (n.912+7145A>G)
c.320+7145A>G
c.*475+7145A>G (n.*475+7145A>G)
c.56+7145A>G
gnomAD v3 gnomAD v4
11g.71085282C>ACA939359022SHANK2c.912+7140G>T (n.912+7140G>T)
c.320+7140G>T
c.*475+7140G>T (n.*475+7140G>T)
c.56+7140G>T
dbSNP gnomAD v3 gnomAD v4
11g.71085282C=CA1981315328SHANK2c.912+7140G= (n.912+7140G=)
c.320+7140G=
c.*475+7140G= (n.*475+7140G=)
c.56+7140G=
11g.71085283C=CA1981315329SHANK2c.912+7139G= (n.912+7139G=)
c.320+7139G=
c.*475+7139G= (n.*475+7139G=)
c.56+7139G=
11g.71085283C>TCA939359023SHANK2c.912+7139G>A (n.912+7139G>A)
c.320+7139G>A
c.*475+7139G>A (n.*475+7139G>A)
c.56+7139G>A
dbSNP gnomAD v3 gnomAD v4
11g.71085285T>CCA679879581SHANK2c.912+7137A>G (n.912+7137A>G)
c.320+7137A>G
c.*475+7137A>G (n.*475+7137A>G)
c.56+7137A>G
dbSNP gnomAD v3 gnomAD v4
11g.71085285T=CA1981315330SHANK2c.912+7137A= (n.912+7137A=)
c.320+7137A=
c.*475+7137A= (n.*475+7137A=)
c.56+7137A=
11g.71085286G>CCA2792612925SHANK2c.912+7136C>G (n.912+7136C>G)
c.320+7136C>G
c.*475+7136C>G (n.*475+7136C>G)
c.56+7136C>G
11g.71085287T>ACA939359025SHANK2c.912+7135A>T (n.912+7135A>T)
c.320+7135A>T
c.*475+7135A>T (n.*475+7135A>T)
c.56+7135A>T
dbSNP gnomAD v3 gnomAD v4
11g.71085287T=CA1981315331SHANK2c.912+7135A= (n.912+7135A=)
c.320+7135A=
c.*475+7135A= (n.*475+7135A=)
c.56+7135A=
11g.71085288C>ACA1981315333SHANK2c.912+7134G>T (n.912+7134G>T)
c.320+7134G>T
c.*475+7134G>T (n.*475+7134G>T)
c.56+7134G>T
dbSNP
11g.71085288C=CA1981315332SHANK2c.912+7134G= (n.912+7134G=)
c.320+7134G=
c.*475+7134G= (n.*475+7134G=)
c.56+7134G=
11g.71085290C=CA1981315334SHANK2c.912+7132G= (n.912+7132G=)
c.320+7132G=
c.*475+7132G= (n.*475+7132G=)
c.56+7132G=
11g.71085290C>GCA939359026SHANK2c.912+7132G>C (n.912+7132G>C)
c.320+7132G>C
c.*475+7132G>C (n.*475+7132G>C)
c.56+7132G>C
dbSNP gnomAD v3 gnomAD v4
11g.71085291T>CCA2598832578SHANK2c.912+7131A>G (n.912+7131A>G)
c.320+7131A>G
c.*475+7131A>G (n.*475+7131A>G)
c.56+7131A>G
dbSNP gnomAD v3 gnomAD v4
11g.71085293C=CA1981315335SHANK2c.912+7129G= (n.912+7129G=)
c.320+7129G=
c.*475+7129G= (n.*475+7129G=)
c.56+7129G=
11g.71085293C>TCA679879583SHANK2c.912+7129G>A (n.912+7129G>A)
c.320+7129G>A
c.*475+7129G>A (n.*475+7129G>A)
c.56+7129G>A
dbSNP gnomAD v3 gnomAD v4
11g.71085294T>CCA679879587SHANK2c.912+7128A>G (n.912+7128A>G)
c.320+7128A>G
c.*475+7128A>G (n.*475+7128A>G)
c.56+7128A>G
dbSNP gnomAD v3 gnomAD v4
11g.71085294T=CA1981315336SHANK2c.912+7128A= (n.912+7128A=)
c.320+7128A=
c.*475+7128A= (n.*475+7128A=)
c.56+7128A=
11g.71085299A=CA1981315337SHANK2c.912+7123T= (n.912+7123T=)
c.320+7123T=
c.*475+7123T= (n.*475+7123T=)
c.56+7123T=
11g.71085299A>CCA679879600SHANK2c.912+7123T>G (n.912+7123T>G)
c.320+7123T>G
c.*475+7123T>G (n.*475+7123T>G)
c.56+7123T>G
dbSNP gnomAD v3 gnomAD v4
11g.71085299A>TCA939359029SHANK2c.912+7123T>A (n.912+7123T>A)
c.320+7123T>A
c.*475+7123T>A (n.*475+7123T>A)
c.56+7123T>A
dbSNP gnomAD v3 gnomAD v4
11g.71085300T>CCA1981315339SHANK2c.912+7122A>G (n.912+7122A>G)
c.320+7122A>G
c.*475+7122A>G (n.*475+7122A>G)
c.56+7122A>G
dbSNP
11g.71085300T=CA1981315338SHANK2c.912+7122A= (n.912+7122A=)
c.320+7122A=
c.*475+7122A= (n.*475+7122A=)
c.56+7122A=
11g.71085302C=CA1981315340SHANK2c.912+7120G= (n.912+7120G=)
c.320+7120G=
c.*475+7120G= (n.*475+7120G=)
c.56+7120G=
11g.71085302C>TCA939359031SHANK2c.912+7120G>A (n.912+7120G>A)
c.320+7120G>A
c.*475+7120G>A (n.*475+7120G>A)
c.56+7120G>A
dbSNP gnomAD v3 gnomAD v4
11g.71085306dupCA939359032SHANK2c.912+7119dup (n.912+7119dup)
c.320+7119dup
c.*475+7119dup (n.*475+7119dup)
c.56+7119dup
dbSNP gnomAD v3 gnomAD v4
11g.71085303_71085306dupCA2568685347SHANK2c.912+7116_912+7119dup (n.912+7116_912+7119dup)
c.320+7116_320+7119dup
c.*475+7116_*475+7119dup (n.*475+7116_*475+7119dup)
c.56+7116_56+7119dup

Number of alleles fetched