Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71085139G= | CA1981315265 | SHANK2 | c.912+7283C= (n.912+7283C=) c.320+7283C= c.*475+7283C= (n.*475+7283C=) c.56+7283C= | |
11 | g.71085139G>T | CA679879498 | SHANK2 | c.912+7283C>A (n.912+7283C>A) c.320+7283C>A c.*475+7283C>A (n.*475+7283C>A) c.56+7283C>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71085140A= | CA1981315266 | SHANK2 | c.912+7282T= (n.912+7282T=) c.320+7282T= c.*475+7282T= (n.*475+7282T=) c.56+7282T= | |
11 | g.71085140A>G | CA939359002 | SHANK2 | c.912+7282T>C (n.912+7282T>C) c.320+7282T>C c.*475+7282T>C (n.*475+7282T>C) c.56+7282T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71085141T>C | CA224326769 | SHANK2 | c.912+7281A>G (n.912+7281A>G) c.320+7281A>G c.*475+7281A>G (n.*475+7281A>G) c.56+7281A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71085141T= | CA1981315267 | SHANK2 | c.912+7281A= (n.912+7281A=) c.320+7281A= c.*475+7281A= (n.*475+7281A=) c.56+7281A= | |
11 | g.71085142A= | CA1981315268 | SHANK2 | c.912+7280T= (n.912+7280T=) c.320+7280T= c.*475+7280T= (n.*475+7280T=) c.56+7280T= | |
11 | g.71085142A>G | CA224326779 | SHANK2 | c.912+7280T>C (n.912+7280T>C) c.320+7280T>C c.*475+7280T>C (n.*475+7280T>C) c.56+7280T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71085143T>A | CA1981315270 | SHANK2 | c.912+7279A>T (n.912+7279A>T) c.320+7279A>T c.*475+7279A>T (n.*475+7279A>T) c.56+7279A>T | dbSNP |
11 | g.71085143T= | CA1981315269 | SHANK2 | c.912+7279A= (n.912+7279A=) c.320+7279A= c.*475+7279A= (n.*475+7279A=) c.56+7279A= | |
11 | g.71085145A= | CA1981315271 | SHANK2 | c.912+7277T= (n.912+7277T=) c.320+7277T= c.*475+7277T= (n.*475+7277T=) c.56+7277T= | |
11 | g.71085145A>G | CA224326780 | SHANK2 | c.912+7277T>C (n.912+7277T>C) c.320+7277T>C c.*475+7277T>C (n.*475+7277T>C) c.56+7277T>C | dbSNP |
11 | g.71085151_71085153delinsAGC | CA1981315272 | SHANK2 | c.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 | |
11 | g.71085152_71085153del | CA679879502 | SHANK2 | c.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 |
11 | g.71085155C= | CA1981315274 | SHANK2 | c.912+7267G= (n.912+7267G=) c.320+7267G= c.*475+7267G= (n.*475+7267G=) c.56+7267G= | |
11 | g.71085155C>G | CA1981315273 | SHANK2 | c.912+7267G>C (n.912+7267G>C) c.320+7267G>C c.*475+7267G>C (n.*475+7267G>C) c.56+7267G>C | dbSNP |
11 | g.71085155C>T | CA2598832574 | SHANK2 | c.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 |
11 | g.71085158A= | CA1981315275 | SHANK2 | c.912+7264T= (n.912+7264T=) c.320+7264T= c.*475+7264T= (n.*475+7264T=) c.56+7264T= | |
11 | g.71085158A>C | CA1981315276 | SHANK2 | c.912+7264T>G (n.912+7264T>G) c.320+7264T>G c.*475+7264T>G (n.*475+7264T>G) c.56+7264T>G | dbSNP |
11 | g.71085163C= | CA1981315277 | SHANK2 | c.912+7259G= (n.912+7259G=) c.320+7259G= c.*475+7259G= (n.*475+7259G=) c.56+7259G= | |
11 | g.71085163C>T | CA679879509 | SHANK2 | c.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 |
11 | g.71085166T>C | CA1981315279 | SHANK2 | c.912+7256A>G (n.912+7256A>G) c.320+7256A>G c.*475+7256A>G (n.*475+7256A>G) c.56+7256A>G | dbSNP |
11 | g.71085166T= | CA1981315278 | SHANK2 | c.912+7256A= (n.912+7256A=) c.320+7256A= c.*475+7256A= (n.*475+7256A=) c.56+7256A= | |
11 | g.71085168G>A | CA1981315281 | SHANK2 | c.912+7254C>T (n.912+7254C>T) c.320+7254C>T c.*475+7254C>T (n.*475+7254C>T) c.56+7254C>T | dbSNP |
11 | g.71085168G>C | CA1981315282 | SHANK2 | c.912+7254C>G (n.912+7254C>G) c.320+7254C>G c.*475+7254C>G (n.*475+7254C>G) c.56+7254C>G | dbSNP |
11 | g.71085168G= | CA1981315280 | SHANK2 | c.912+7254C= (n.912+7254C=) c.320+7254C= c.*475+7254C= (n.*475+7254C=) c.56+7254C= | |
11 | g.71085170C>T | CA2566340579 | SHANK2 | c.912+7252G>A (n.912+7252G>A) c.320+7252G>A c.*475+7252G>A (n.*475+7252G>A) c.56+7252G>A | dbSNP |
11 | g.71085173T>C | CA1981315284 | SHANK2 | c.912+7249A>G (n.912+7249A>G) c.320+7249A>G c.*475+7249A>G (n.*475+7249A>G) c.56+7249A>G | dbSNP |
11 | g.71085173T= | CA1981315283 | SHANK2 | c.912+7249A= (n.912+7249A=) c.320+7249A= c.*475+7249A= (n.*475+7249A=) c.56+7249A= | |
11 | g.71085180G>A | CA2598832575 | SHANK2 | c.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 |
11 | g.71085182C= | CA1981315285 | SHANK2 | c.912+7240G= (n.912+7240G=) c.320+7240G= c.*475+7240G= (n.*475+7240G=) c.56+7240G= | |
11 | g.71085183A= | CA1981315286 | SHANK2 | c.912+7239T= (n.912+7239T=) c.320+7239T= c.*475+7239T= (n.*475+7239T=) c.56+7239T= | |
11 | g.71085183A>C | CA2598832576 | SHANK2 | c.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 |
11 | g.71085183A>T | CA939359004 | SHANK2 | c.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 |
11 | g.71085183dup | CA679879510 | SHANK2 | c.912+7239dup (n.912+7239dup) c.320+7239dup c.*475+7239dup (n.*475+7239dup) c.56+7239dup | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71085185G>A | CA1981315288 | SHANK2 | c.912+7237C>T (n.912+7237C>T) c.320+7237C>T c.*475+7237C>T (n.*475+7237C>T) c.56+7237C>T | dbSNP |
11 | g.71085185G>C | CA939359005 | SHANK2 | c.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 |
11 | g.71085185G= | CA1981315287 | SHANK2 | c.912+7237C= (n.912+7237C=) c.320+7237C= c.*475+7237C= (n.*475+7237C=) c.56+7237C= | |
11 | g.71085186G>A | CA679879518 | SHANK2 | c.912+7236C>T (n.912+7236C>T) c.320+7236C>T c.*475+7236C>T (n.*475+7236C>T) c.56+7236C>T | dbSNP |
11 | g.71085186G= | CA1981315289 | SHANK2 | c.912+7236C= (n.912+7236C=) c.320+7236C= c.*475+7236C= (n.*475+7236C=) c.56+7236C= | |
11 | g.71085186G>T | CA2792612916 | SHANK2 | c.912+7236C>A (n.912+7236C>A) c.320+7236C>A c.*475+7236C>A (n.*475+7236C>A) c.56+7236C>A | |
11 | g.71085194C>T | CA2724525350 | SHANK2 | c.912+7228G>A (n.912+7228G>A) c.320+7228G>A c.*475+7228G>A (n.*475+7228G>A) c.56+7228G>A | dbSNP |
11 | g.71085195T>G | CA939359006 | SHANK2 | c.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 |
11 | g.71085195T= | CA1981315290 | SHANK2 | c.912+7227A= (n.912+7227A=) c.320+7227A= c.*475+7227A= (n.*475+7227A=) c.56+7227A= | |
11 | g.71085199G= | CA1981315292 | SHANK2 | c.912+7223C= (n.912+7223C=) c.320+7223C= c.*475+7223C= (n.*475+7223C=) c.56+7223C= | |
11 | g.71085199G>T | CA1981315291 | SHANK2 | c.912+7223C>A (n.912+7223C>A) c.320+7223C>A c.*475+7223C>A (n.*475+7223C>A) c.56+7223C>A | dbSNP |
11 | g.71085201A>G | CA10631459 | SHANK2 | c.912+7221T>C (n.912+7221T>C) c.320+7221T>C c.*475+7221T>C (n.*475+7221T>C) c.56+7221T>C | |
11 | g.71085204C= | CA1981315293 | SHANK2 | c.912+7218G= (n.912+7218G=) c.320+7218G= c.*475+7218G= (n.*475+7218G=) c.56+7218G= | |
11 | g.71085204C>G | CA1981315294 | SHANK2 | c.912+7218G>C (n.912+7218G>C) c.320+7218G>C c.*475+7218G>C (n.*475+7218G>C) c.56+7218G>C | dbSNP |
11 | g.71085209C>A | CA679879537 | SHANK2 | c.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 |
11 | g.71085209C= | CA1981315295 | SHANK2 | c.912+7213G= (n.912+7213G=) c.320+7213G= c.*475+7213G= (n.*475+7213G=) c.56+7213G= | |
11 | g.71085217G>A | CA224326785 | SHANK2 | c.912+7205C>T (n.912+7205C>T) c.320+7205C>T c.*475+7205C>T (n.*475+7205C>T) c.56+7205C>T | dbSNP |
11 | g.71085217G= | CA1981315296 | SHANK2 | c.912+7205C= (n.912+7205C=) c.320+7205C= c.*475+7205C= (n.*475+7205C=) c.56+7205C= | |
11 | g.71085219G>A | CA224326786 | SHANK2 | c.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 |
11 | g.71085219G= | CA1981315297 | SHANK2 | c.912+7203C= (n.912+7203C=) c.320+7203C= c.*475+7203C= (n.*475+7203C=) c.56+7203C= | |
11 | g.71085221T>C | CA224326811 | SHANK2 | c.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 |
11 | g.71085221T= | CA1981315298 | SHANK2 | c.912+7201A= (n.912+7201A=) c.320+7201A= c.*475+7201A= (n.*475+7201A=) c.56+7201A= | |
11 | g.71085222T>C | CA939359008 | SHANK2 | c.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 |
11 | g.71085223G>A | CA939359010 | SHANK2 | c.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 |
11 | g.71085223G= | CA1981315299 | SHANK2 | c.912+7199C= (n.912+7199C=) c.320+7199C= c.*475+7199C= (n.*475+7199C=) c.56+7199C= | |
11 | g.71085225G>C | CA224326822 | SHANK2 | c.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 |
11 | g.71085225G= | CA1981315300 | SHANK2 | c.912+7197C= (n.912+7197C=) c.320+7197C= c.*475+7197C= (n.*475+7197C=) c.56+7197C= | |
11 | g.71085227A>C | CA939359012 | SHANK2 | c.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 |
11 | g.71085227A>T | CA939359013 | SHANK2 | c.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 |
11 | g.71085228G>A | CA939359014 | SHANK2 | c.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 |
11 | g.71085228G>C | CA939359015 | SHANK2 | c.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 |
11 | g.71085228G= | CA1981315301 | SHANK2 | c.912+7194C= (n.912+7194C=) c.320+7194C= c.*475+7194C= (n.*475+7194C=) c.56+7194C= | |
11 | g.71085230G>A | CA2564844445 | SHANK2 | c.912+7192C>T (n.912+7192C>T) c.320+7192C>T c.*475+7192C>T (n.*475+7192C>T) c.56+7192C>T | |
11 | g.71085230G>C | CA224326823 | SHANK2 | c.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 |
11 | g.71085230G= | CA1981315302 | SHANK2 | c.912+7192C= (n.912+7192C=) c.320+7192C= c.*475+7192C= (n.*475+7192C=) c.56+7192C= | |
11 | g.71085231C>A | CA1981315304 | SHANK2 | c.912+7191G>T (n.912+7191G>T) c.320+7191G>T c.*475+7191G>T (n.*475+7191G>T) c.56+7191G>T | dbSNP |
11 | g.71085231C= | CA1981315303 | SHANK2 | c.912+7191G= (n.912+7191G=) c.320+7191G= c.*475+7191G= (n.*475+7191G=) c.56+7191G= | |
11 | g.71085232A>G | CA939359016 | SHANK2 | c.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 |
11 | g.71085234_71085236delinsATC | CA1981315305 | SHANK2 | c.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 | |
11 | g.71085235T>A | CA679879542 | SHANK2 | c.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 |
11 | g.71085235T>C | CA1981315307 | SHANK2 | c.912+7187A>G (n.912+7187A>G) c.320+7187A>G c.*475+7187A>G (n.*475+7187A>G) c.56+7187A>G | dbSNP |
11 | g.71085235T= | CA1981315306 | SHANK2 | c.912+7187A= (n.912+7187A=) c.320+7187A= c.*475+7187A= (n.*475+7187A=) c.56+7187A= | |
11 | g.71085235_71085236del | CA1981315308 | SHANK2 | c.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 |
11 | g.71085236C>A | CA224326836 | SHANK2 | c.912+7186G>T (n.912+7186G>T) c.320+7186G>T c.*475+7186G>T (n.*475+7186G>T) c.56+7186G>T | dbSNP |
11 | g.71085236C= | CA1981315309 | SHANK2 | c.912+7186G= (n.912+7186G=) c.320+7186G= c.*475+7186G= (n.*475+7186G=) c.56+7186G= |