Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71085151_71085153delinsAGCCA1981315272SHANK2c.912+7269_912+7271delinsGCT (n.912+7269_912+7271delinsGCT)
c.320+7269_320+7271delinsGCT
c.*475+7269_*475+7271delinsGCT (n.*475+7269_*475+7271delinsGCT)
c.56+7269_56+7271delinsGCT
11g.71085152_71085153delCA679879502SHANK2c.912+7269_912+7270del (n.912+7269_912+7270del)
c.320+7269_320+7270del
c.*475+7269_*475+7270del (n.*475+7269_*475+7270del)
c.56+7269_56+7270del
 dbSNP
11g.71085155C=CA1981315274SHANK2c.912+7267G= (n.912+7267G=)
c.320+7267G=
c.*475+7267G= (n.*475+7267G=)
c.56+7267G=
11g.71085155C>GCA1981315273SHANK2c.912+7267G>C (n.912+7267G>C)
c.320+7267G>C
c.*475+7267G>C (n.*475+7267G>C)
c.56+7267G>C
 dbSNP
11g.71085155C>TCA2598832574SHANK2c.912+7267G>A (n.912+7267G>A)
c.320+7267G>A
c.*475+7267G>A (n.*475+7267G>A)
c.56+7267G>A
 dbSNP gnomAD v3 gnomAD v4
11g.71085158A=CA1981315275SHANK2c.912+7264T= (n.912+7264T=)
c.320+7264T=
c.*475+7264T= (n.*475+7264T=)
c.56+7264T=
11g.71085158A>CCA1981315276SHANK2c.912+7264T>G (n.912+7264T>G)
c.320+7264T>G
c.*475+7264T>G (n.*475+7264T>G)
c.56+7264T>G
 dbSNP
11g.71085163C=CA1981315277SHANK2c.912+7259G= (n.912+7259G=)
c.320+7259G=
c.*475+7259G= (n.*475+7259G=)
c.56+7259G=
11g.71085163C>TCA679879509SHANK2c.912+7259G>A (n.912+7259G>A)
c.320+7259G>A
c.*475+7259G>A (n.*475+7259G>A)
c.56+7259G>A
 dbSNP gnomAD v3 gnomAD v4
11g.71085166T>CCA1981315279SHANK2c.912+7256A>G (n.912+7256A>G)
c.320+7256A>G
c.*475+7256A>G (n.*475+7256A>G)
c.56+7256A>G
 dbSNP
11g.71085166T=CA1981315278SHANK2c.912+7256A= (n.912+7256A=)
c.320+7256A=
c.*475+7256A= (n.*475+7256A=)
c.56+7256A=
11g.71085168G>ACA1981315281SHANK2c.912+7254C>T (n.912+7254C>T)
c.320+7254C>T
c.*475+7254C>T (n.*475+7254C>T)
c.56+7254C>T
 dbSNP
11g.71085168G>CCA1981315282SHANK2c.912+7254C>G (n.912+7254C>G)
c.320+7254C>G
c.*475+7254C>G (n.*475+7254C>G)
c.56+7254C>G
 dbSNP
11g.71085168G=CA1981315280SHANK2c.912+7254C= (n.912+7254C=)
c.320+7254C=
c.*475+7254C= (n.*475+7254C=)
c.56+7254C=
11g.71085170C>TCA2566340579SHANK2c.912+7252G>A (n.912+7252G>A)
c.320+7252G>A
c.*475+7252G>A (n.*475+7252G>A)
c.56+7252G>A
 dbSNP
11g.71085173T>CCA1981315284SHANK2c.912+7249A>G (n.912+7249A>G)
c.320+7249A>G
c.*475+7249A>G (n.*475+7249A>G)
c.56+7249A>G
 dbSNP
11g.71085173T=CA1981315283SHANK2c.912+7249A= (n.912+7249A=)
c.320+7249A=
c.*475+7249A= (n.*475+7249A=)
c.56+7249A=
11g.71085180G>ACA2598832575SHANK2c.912+7242C>T (n.912+7242C>T)
c.320+7242C>T
c.*475+7242C>T (n.*475+7242C>T)
c.56+7242C>T
 gnomAD v3 gnomAD v4
11g.71085182C=CA1981315285SHANK2c.912+7240G= (n.912+7240G=)
c.320+7240G=
c.*475+7240G= (n.*475+7240G=)
c.56+7240G=
11g.71085183A=CA1981315286SHANK2c.912+7239T= (n.912+7239T=)
c.320+7239T=
c.*475+7239T= (n.*475+7239T=)
c.56+7239T=
11g.71085183A>CCA2598832576SHANK2c.912+7239T>G (n.912+7239T>G)
c.320+7239T>G
c.*475+7239T>G (n.*475+7239T>G)
c.56+7239T>G
 dbSNP gnomAD v3 gnomAD v4
11g.71085183A>TCA939359004SHANK2c.912+7239T>A (n.912+7239T>A)
c.320+7239T>A
c.*475+7239T>A (n.*475+7239T>A)
c.56+7239T>A
 dbSNP gnomAD v3 gnomAD v4
11g.71085183dupCA679879510SHANK2c.912+7239dup (n.912+7239dup)
c.320+7239dup
c.*475+7239dup (n.*475+7239dup)
c.56+7239dup
 dbSNP gnomAD v3 gnomAD v4
11g.71085185G>ACA1981315288SHANK2c.912+7237C>T (n.912+7237C>T)
c.320+7237C>T
c.*475+7237C>T (n.*475+7237C>T)
c.56+7237C>T
 dbSNP
11g.71085185G>CCA939359005SHANK2c.912+7237C>G (n.912+7237C>G)
c.320+7237C>G
c.*475+7237C>G (n.*475+7237C>G)
c.56+7237C>G
 dbSNP gnomAD v3 gnomAD v4
11g.71085185G=CA1981315287SHANK2c.912+7237C= (n.912+7237C=)
c.320+7237C=
c.*475+7237C= (n.*475+7237C=)
c.56+7237C=
11g.71085186G>ACA679879518SHANK2c.912+7236C>T (n.912+7236C>T)
c.320+7236C>T
c.*475+7236C>T (n.*475+7236C>T)
c.56+7236C>T
 dbSNP
11g.71085186G=CA1981315289SHANK2c.912+7236C= (n.912+7236C=)
c.320+7236C=
c.*475+7236C= (n.*475+7236C=)
c.56+7236C=
11g.71085186G>TCA2792612916SHANK2c.912+7236C>A (n.912+7236C>A)
c.320+7236C>A
c.*475+7236C>A (n.*475+7236C>A)
c.56+7236C>A
11g.71085194C>TCA2724525350SHANK2c.912+7228G>A (n.912+7228G>A)
c.320+7228G>A
c.*475+7228G>A (n.*475+7228G>A)
c.56+7228G>A
 dbSNP
11g.71085195T>GCA939359006SHANK2c.912+7227A>C (n.912+7227A>C)
c.320+7227A>C
c.*475+7227A>C (n.*475+7227A>C)
c.56+7227A>C
 dbSNP gnomAD v3 gnomAD v4
11g.71085195T=CA1981315290SHANK2c.912+7227A= (n.912+7227A=)
c.320+7227A=
c.*475+7227A= (n.*475+7227A=)
c.56+7227A=
11g.71085199G=CA1981315292SHANK2c.912+7223C= (n.912+7223C=)
c.320+7223C=
c.*475+7223C= (n.*475+7223C=)
c.56+7223C=
11g.71085199G>TCA1981315291SHANK2c.912+7223C>A (n.912+7223C>A)
c.320+7223C>A
c.*475+7223C>A (n.*475+7223C>A)
c.56+7223C>A
 dbSNP
11g.71085201A>GCA10631459SHANK2c.912+7221T>C (n.912+7221T>C)
c.320+7221T>C
c.*475+7221T>C (n.*475+7221T>C)
c.56+7221T>C
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

Number of alleles fetched