Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.70473356A=CA1981068020SHANK2c.3296T= (p.Ile1099=)
c.841T= (n.841T=)
c.5063T= (p.Ile1688=)
c.2572T=
c.3926T= (p.Ile1309=)
c.3353T= (p.Ile1118=)
c.3299T= (p.Ile1100=)
c.*67T= (n.*67T=)
c.3275T= (p.Ile1092=)
c.839T=
c.2900T= (p.Ile967=)
n.1815T=
n.917T=
c.5033T= (p.Ile1678=)
c.5075T= (p.Ile1692=)
c.5054T= (p.Ile1685=)
c.5048T= (p.Ile1683=)
c.5027T= (p.Ile1676=)
c.3938T= (p.Ile1313=)
c.5036T= (p.Ile1679=)
n.918T=
11g.70473356A>CCA381676486SHANK2c.3296T>G (p.Ile1099Ser)
c.841T>G (n.841T>G)
c.5063T>G (p.Ile1688Ser)
c.2572T>G
c.3926T>G (p.Ile1309Ser)
c.3353T>G (p.Ile1118Ser)
c.3299T>G (p.Ile1100Ser)
c.*67T>G (n.*67T>G)
c.3275T>G (p.Ile1092Ser)
c.839T>G
c.2900T>G (p.Ile967Ser)
n.1815T>G
n.917T>G
c.5033T>G (p.Ile1678Ser)
c.5075T>G (p.Ile1692Ser)
c.5054T>G (p.Ile1685Ser)
c.5048T>G (p.Ile1683Ser)
c.5027T>G (p.Ile1676Ser)
c.3938T>G (p.Ile1313Ser)
c.5036T>G (p.Ile1679Ser)
n.918T>G
11g.70473356A>GCA381676484SHANK2c.3296T>C (p.Ile1099Thr)
c.841T>C (n.841T>C)
c.5063T>C (p.Ile1688Thr)
c.2572T>C
c.3926T>C (p.Ile1309Thr)
c.3353T>C (p.Ile1118Thr)
c.3299T>C (p.Ile1100Thr)
c.*67T>C (n.*67T>C)
c.3275T>C (p.Ile1092Thr)
c.839T>C
c.2900T>C (p.Ile967Thr)
n.1815T>C
n.917T>C
c.5033T>C (p.Ile1678Thr)
c.5075T>C (p.Ile1692Thr)
c.5054T>C (p.Ile1685Thr)
c.5048T>C (p.Ile1683Thr)
c.5027T>C (p.Ile1676Thr)
c.3938T>C (p.Ile1313Thr)
c.5036T>C (p.Ile1679Thr)
n.918T>C
11g.70473356A>TCA381676483SHANK2c.3296T>A (p.Ile1099Asn)
c.841T>A (n.841T>A)
c.5063T>A (p.Ile1688Asn)
c.2572T>A
c.3926T>A (p.Ile1309Asn)
c.3353T>A (p.Ile1118Asn)
c.3299T>A (p.Ile1100Asn)
c.*67T>A (n.*67T>A)
c.3275T>A (p.Ile1092Asn)
c.839T>A
c.2900T>A (p.Ile967Asn)
n.1815T>A
n.917T>A
c.5033T>A (p.Ile1678Asn)
c.5075T>A (p.Ile1692Asn)
c.5054T>A (p.Ile1685Asn)
c.5048T>A (p.Ile1683Asn)
c.5027T>A (p.Ile1676Asn)
c.3938T>A (p.Ile1313Asn)
c.5036T>A (p.Ile1679Asn)
n.918T>A
 dbSNP
11g.70473357T>ACA381676488SHANK2c.3295A>T (p.Ile1099Phe)
c.840A>T (n.840A>T)
c.5062A>T (p.Ile1688Phe)
c.2571A>T
c.3925A>T (p.Ile1309Phe)
c.3352A>T (p.Ile1118Phe)
c.3298A>T (p.Ile1100Phe)
c.*66A>T (n.*66A>T)
c.3274A>T (p.Ile1092Phe)
c.838A>T
c.2899A>T (p.Ile967Phe)
n.1814A>T
n.916A>T
c.5032A>T (p.Ile1678Phe)
c.5074A>T (p.Ile1692Phe)
c.5053A>T (p.Ile1685Phe)
c.5047A>T (p.Ile1683Phe)
c.5026A>T (p.Ile1676Phe)
c.3937A>T (p.Ile1313Phe)
c.5035A>T (p.Ile1679Phe)
n.917A>T
11g.70473357T>CCA381676490SHANK2c.3295A>G (p.Ile1099Val)
c.840A>G (n.840A>G)
c.5062A>G (p.Ile1688Val)
c.2571A>G
c.3925A>G (p.Ile1309Val)
c.3352A>G (p.Ile1118Val)
c.3298A>G (p.Ile1100Val)
c.*66A>G (n.*66A>G)
c.3274A>G (p.Ile1092Val)
c.838A>G
c.2899A>G (p.Ile967Val)
n.1814A>G
n.916A>G
c.5032A>G (p.Ile1678Val)
c.5074A>G (p.Ile1692Val)
c.5053A>G (p.Ile1685Val)
c.5047A>G (p.Ile1683Val)
c.5026A>G (p.Ile1676Val)
c.3937A>G (p.Ile1313Val)
c.5035A>G (p.Ile1679Val)
n.917A>G
11g.70473357T>GCA381676492SHANK2c.3295A>C (p.Ile1099Leu)
c.840A>C (n.840A>C)
c.5062A>C (p.Ile1688Leu)
c.2571A>C
c.3925A>C (p.Ile1309Leu)
c.3352A>C (p.Ile1118Leu)
c.3298A>C (p.Ile1100Leu)
c.*66A>C (n.*66A>C)
c.3274A>C (p.Ile1092Leu)
c.838A>C
c.2899A>C (p.Ile967Leu)
n.1814A>C
n.916A>C
c.5032A>C (p.Ile1678Leu)
c.5074A>C (p.Ile1692Leu)
c.5053A>C (p.Ile1685Leu)
c.5047A>C (p.Ile1683Leu)
c.5026A>C (p.Ile1676Leu)
c.3937A>C (p.Ile1313Leu)
c.5035A>C (p.Ile1679Leu)
n.917A>C
11g.70473358G>ACA475470775SHANK2c.3294C>T (p.Pro1098=)
c.839C>T (n.839C>T)
c.5061C>T (p.Pro1687=)
c.2570C>T
c.3924C>T (p.Pro1308=)
c.3351C>T (p.Pro1117=)
c.3297C>T (p.Pro1099=)
c.*65C>T (n.*65C>T)
c.3273C>T (p.Pro1091=)
c.837C>T
c.2898C>T (p.Pro966=)
n.1813C>T
n.915C>T
c.5031C>T (p.Pro1677=)
c.5073C>T (p.Pro1691=)
c.5052C>T (p.Pro1684=)
c.5046C>T (p.Pro1682=)
c.5025C>T (p.Pro1675=)
c.3936C>T (p.Pro1312=)
c.5034C>T (p.Pro1678=)
n.916C>T
 gnomAD v4
11g.70473358G>CCA475470774SHANK2c.3294C>G (p.Pro1098=)
c.839C>G (n.839C>G)
c.5061C>G (p.Pro1687=)
c.2570C>G
c.3924C>G (p.Pro1308=)
c.3351C>G (p.Pro1117=)
c.3297C>G (p.Pro1099=)
c.*65C>G (n.*65C>G)
c.3273C>G (p.Pro1091=)
c.837C>G
c.2898C>G (p.Pro966=)
n.1813C>G
n.915C>G
c.5031C>G (p.Pro1677=)
c.5073C>G (p.Pro1691=)
c.5052C>G (p.Pro1684=)
c.5046C>G (p.Pro1682=)
c.5025C>G (p.Pro1675=)
c.3936C>G (p.Pro1312=)
c.5034C>G (p.Pro1678=)
n.916C>G
11g.70473358G>TCA475470773SHANK2c.3294C>A (p.Pro1098=)
c.839C>A (n.839C>A)
c.5061C>A (p.Pro1687=)
c.2570C>A
c.3924C>A (p.Pro1308=)
c.3351C>A (p.Pro1117=)
c.3297C>A (p.Pro1099=)
c.*65C>A (n.*65C>A)
c.3273C>A (p.Pro1091=)
c.837C>A
c.2898C>A (p.Pro966=)
n.1813C>A
n.915C>A
c.5031C>A (p.Pro1677=)
c.5073C>A (p.Pro1691=)
c.5052C>A (p.Pro1684=)
c.5046C>A (p.Pro1682=)
c.5025C>A (p.Pro1675=)
c.3936C>A (p.Pro1312=)
c.5034C>A (p.Pro1678=)
n.916C>A
 gnomAD v4
11g.70473359G>ACA381676494SHANK2c.3293C>T (p.Pro1098Leu)
c.838C>T (n.838C>T)
c.5060C>T (p.Pro1687Leu)
c.2569C>T
c.3923C>T (p.Pro1308Leu)
c.3350C>T (p.Pro1117Leu)
c.3296C>T (p.Pro1099Leu)
c.*64C>T (n.*64C>T)
c.3272C>T (p.Pro1091Leu)
c.836C>T
c.2897C>T (p.Pro966Leu)
n.1812C>T
n.914C>T
c.5030C>T (p.Pro1677Leu)
c.5072C>T (p.Pro1691Leu)
c.5051C>T (p.Pro1684Leu)
c.5045C>T (p.Pro1682Leu)
c.5024C>T (p.Pro1675Leu)
c.3935C>T (p.Pro1312Leu)
c.5033C>T (p.Pro1678Leu)
n.915C>T
11g.70473359G>CCA381676496SHANK2c.3293C>G (p.Pro1098Arg)
c.838C>G (n.838C>G)
c.5060C>G (p.Pro1687Arg)
c.2569C>G
c.3923C>G (p.Pro1308Arg)
c.3350C>G (p.Pro1117Arg)
c.3296C>G (p.Pro1099Arg)
c.*64C>G (n.*64C>G)
c.3272C>G (p.Pro1091Arg)
c.836C>G
c.2897C>G (p.Pro966Arg)
n.1812C>G
n.914C>G
c.5030C>G (p.Pro1677Arg)
c.5072C>G (p.Pro1691Arg)
c.5051C>G (p.Pro1684Arg)
c.5045C>G (p.Pro1682Arg)
c.5024C>G (p.Pro1675Arg)
c.3935C>G (p.Pro1312Arg)
c.5033C>G (p.Pro1678Arg)
n.915C>G
11g.70473359G>TCA381676498SHANK2c.3293C>A (p.Pro1098His)
c.838C>A (n.838C>A)
c.5060C>A (p.Pro1687His)
c.2569C>A
c.3923C>A (p.Pro1308His)
c.3350C>A (p.Pro1117His)
c.3296C>A (p.Pro1099His)
c.*64C>A (n.*64C>A)
c.3272C>A (p.Pro1091His)
c.836C>A
c.2897C>A (p.Pro966His)
n.1812C>A
n.914C>A
c.5030C>A (p.Pro1677His)
c.5072C>A (p.Pro1691His)
c.5051C>A (p.Pro1684His)
c.5045C>A (p.Pro1682His)
c.5024C>A (p.Pro1675His)
c.3935C>A (p.Pro1312His)
c.5033C>A (p.Pro1678His)
n.915C>A
11g.70473360G>ACA381676500SHANK2c.3292C>T (p.Pro1098Ser)
c.837C>T (n.837C>T)
c.5059C>T (p.Pro1687Ser)
c.2568C>T
c.3922C>T (p.Pro1308Ser)
c.3349C>T (p.Pro1117Ser)
c.3295C>T (p.Pro1099Ser)
c.*63C>T (n.*63C>T)
c.3271C>T (p.Pro1091Ser)
c.835C>T
c.2896C>T (p.Pro966Ser)
n.1811C>T
n.913C>T
c.5029C>T (p.Pro1677Ser)
c.5071C>T (p.Pro1691Ser)
c.5050C>T (p.Pro1684Ser)
c.5044C>T (p.Pro1682Ser)
c.5023C>T (p.Pro1675Ser)
c.3934C>T (p.Pro1312Ser)
c.5032C>T (p.Pro1678Ser)
n.914C>T
11g.70473360G>CCA381676505SHANK2c.3292C>G (p.Pro1098Ala)
c.837C>G (n.837C>G)
c.5059C>G (p.Pro1687Ala)
c.2568C>G
c.3922C>G (p.Pro1308Ala)
c.3349C>G (p.Pro1117Ala)
c.3295C>G (p.Pro1099Ala)
c.*63C>G (n.*63C>G)
c.3271C>G (p.Pro1091Ala)
c.835C>G
c.2896C>G (p.Pro966Ala)
n.1811C>G
n.913C>G
c.5029C>G (p.Pro1677Ala)
c.5071C>G (p.Pro1691Ala)
c.5050C>G (p.Pro1684Ala)
c.5044C>G (p.Pro1682Ala)
c.5023C>G (p.Pro1675Ala)
c.3934C>G (p.Pro1312Ala)
c.5032C>G (p.Pro1678Ala)
n.914C>G
 COSMIC COSMIC
11g.70473360G=CA1981068021SHANK2c.3292C= (p.Pro1098=)
c.837C= (n.837C=)
c.5059C= (p.Pro1687=)
c.2568C=
c.3922C= (p.Pro1308=)
c.3349C= (p.Pro1117=)
c.3295C= (p.Pro1099=)
c.*63C= (n.*63C=)
c.3271C= (p.Pro1091=)
c.835C=
c.2896C= (p.Pro966=)
n.1811C=
n.913C=
c.5029C= (p.Pro1677=)
c.5071C= (p.Pro1691=)
c.5050C= (p.Pro1684=)
c.5044C= (p.Pro1682=)
c.5023C= (p.Pro1675=)
c.3934C= (p.Pro1312=)
c.5032C= (p.Pro1678=)
n.914C=
11g.70473360G>TCA381676503SHANK2c.3292C>A (p.Pro1098Thr)
c.837C>A (n.837C>A)
c.5059C>A (p.Pro1687Thr)
c.2568C>A
c.3922C>A (p.Pro1308Thr)
c.3349C>A (p.Pro1117Thr)
c.3295C>A (p.Pro1099Thr)
c.*63C>A (n.*63C>A)
c.3271C>A (p.Pro1091Thr)
c.835C>A
c.2896C>A (p.Pro966Thr)
n.1811C>A
n.913C>A
c.5029C>A (p.Pro1677Thr)
c.5071C>A (p.Pro1691Thr)
c.5050C>A (p.Pro1684Thr)
c.5044C>A (p.Pro1682Thr)
c.5023C>A (p.Pro1675Thr)
c.3934C>A (p.Pro1312Thr)
c.5032C>A (p.Pro1678Thr)
n.914C>A
 dbSNP gnomAD v4
11g.70473361C>ACA381676507SHANK2c.3291G>T (p.Gln1097His)
c.836G>T (n.836G>T)
c.5058G>T (p.Gln1686His)
c.2567G>T
c.3921G>T (p.Gln1307His)
c.3348G>T (p.Gln1116His)
c.3294G>T (p.Gln1098His)
c.*62G>T (n.*62G>T)
c.3270G>T (p.Gln1090His)
c.834G>T
c.2895G>T (p.Gln965His)
n.1810G>T
n.912G>T
c.5028G>T (p.Gln1676His)
c.5070G>T (p.Gln1690His)
c.5049G>T (p.Gln1683His)
c.5043G>T (p.Gln1681His)
c.5022G>T (p.Gln1674His)
c.3933G>T (p.Gln1311His)
c.5031G>T (p.Gln1677His)
n.913G>T
11g.70473361C=CA1981068022SHANK2c.3291G= (p.Gln1097=)
c.836G= (n.836G=)
c.5058G= (p.Gln1686=)
c.2567G=
c.3921G= (p.Gln1307=)
c.3348G= (p.Gln1116=)
c.3294G= (p.Gln1098=)
c.*62G= (n.*62G=)
c.3270G= (p.Gln1090=)
c.834G=
c.2895G= (p.Gln965=)
n.1810G=
n.912G=
c.5028G= (p.Gln1676=)
c.5070G= (p.Gln1690=)
c.5049G= (p.Gln1683=)
c.5043G= (p.Gln1681=)
c.5022G= (p.Gln1674=)
c.3933G= (p.Gln1311=)
c.5031G= (p.Gln1677=)
n.913G=
11g.70473361C>GCA6160778SHANK2c.3291G>C (p.Gln1097His)
c.836G>C (n.836G>C)
c.5058G>C (p.Gln1686His)
c.2567G>C
c.3921G>C (p.Gln1307His)
c.3348G>C (p.Gln1116His)
c.3294G>C (p.Gln1098His)
c.*62G>C (n.*62G>C)
c.3270G>C (p.Gln1090His)
c.834G>C
c.2895G>C (p.Gln965His)
n.1810G>C
n.912G>C
c.5028G>C (p.Gln1676His)
c.5070G>C (p.Gln1690His)
c.5049G>C (p.Gln1683His)
c.5043G>C (p.Gln1681His)
c.5022G>C (p.Gln1674His)
c.3933G>C (p.Gln1311His)
c.5031G>C (p.Gln1677His)
n.913G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473361C>TCA475470776SHANK2c.3291G>A (p.Gln1097=)
c.836G>A (n.836G>A)
c.5058G>A (p.Gln1686=)
c.2567G>A
c.3921G>A (p.Gln1307=)
c.3348G>A (p.Gln1116=)
c.3294G>A (p.Gln1098=)
c.*62G>A (n.*62G>A)
c.3270G>A (p.Gln1090=)
c.834G>A
c.2895G>A (p.Gln965=)
n.1810G>A
n.912G>A
c.5028G>A (p.Gln1676=)
c.5070G>A (p.Gln1690=)
c.5049G>A (p.Gln1683=)
c.5043G>A (p.Gln1681=)
c.5022G>A (p.Gln1674=)
c.3933G>A (p.Gln1311=)
c.5031G>A (p.Gln1677=)
n.913G>A
 gnomAD v4
11g.70473362T>ACA381676510SHANK2c.3290A>T (p.Gln1097Leu)
c.835A>T (n.835A>T)
c.5057A>T (p.Gln1686Leu)
c.2566A>T
c.3920A>T (p.Gln1307Leu)
c.3347A>T (p.Gln1116Leu)
c.3293A>T (p.Gln1098Leu)
c.*61A>T (n.*61A>T)
c.3269A>T (p.Gln1090Leu)
c.833A>T
c.2894A>T (p.Gln965Leu)
n.1809A>T
n.911A>T
c.5027A>T (p.Gln1676Leu)
c.5069A>T (p.Gln1690Leu)
c.5048A>T (p.Gln1683Leu)
c.5042A>T (p.Gln1681Leu)
c.5021A>T (p.Gln1674Leu)
c.3932A>T (p.Gln1311Leu)
c.5030A>T (p.Gln1677Leu)
n.912A>T
11g.70473362T>CCA381676512SHANK2c.3290A>G (p.Gln1097Arg)
c.835A>G (n.835A>G)
c.5057A>G (p.Gln1686Arg)
c.2566A>G
c.3920A>G (p.Gln1307Arg)
c.3347A>G (p.Gln1116Arg)
c.3293A>G (p.Gln1098Arg)
c.*61A>G (n.*61A>G)
c.3269A>G (p.Gln1090Arg)
c.833A>G
c.2894A>G (p.Gln965Arg)
n.1809A>G
n.911A>G
c.5027A>G (p.Gln1676Arg)
c.5069A>G (p.Gln1690Arg)
c.5048A>G (p.Gln1683Arg)
c.5042A>G (p.Gln1681Arg)
c.5021A>G (p.Gln1674Arg)
c.3932A>G (p.Gln1311Arg)
c.5030A>G (p.Gln1677Arg)
n.912A>G
11g.70473362T>GCA381676514SHANK2c.3290A>C (p.Gln1097Pro)
c.835A>C (n.835A>C)
c.5057A>C (p.Gln1686Pro)
c.2566A>C
c.3920A>C (p.Gln1307Pro)
c.3347A>C (p.Gln1116Pro)
c.3293A>C (p.Gln1098Pro)
c.*61A>C (n.*61A>C)
c.3269A>C (p.Gln1090Pro)
c.833A>C
c.2894A>C (p.Gln965Pro)
n.1809A>C
n.911A>C
c.5027A>C (p.Gln1676Pro)
c.5069A>C (p.Gln1690Pro)
c.5048A>C (p.Gln1683Pro)
c.5042A>C (p.Gln1681Pro)
c.5021A>C (p.Gln1674Pro)
c.3932A>C (p.Gln1311Pro)
c.5030A>C (p.Gln1677Pro)
n.912A>C
11g.70473363G>ACA381676516SHANK2c.3289C>T (p.Gln1097Ter)
c.834C>T (n.834C>T)
c.5056C>T (p.Gln1686Ter)
c.2565C>T
c.3919C>T (p.Gln1307Ter)
c.3346C>T (p.Gln1116Ter)
c.3292C>T (p.Gln1098Ter)
c.*60C>T (n.*60C>T)
c.3268C>T (p.Gln1090Ter)
c.832C>T
c.2893C>T (p.Gln965Ter)
n.1808C>T
n.910C>T
c.5026C>T (p.Gln1676Ter)
c.5068C>T (p.Gln1690Ter)
c.5047C>T (p.Gln1683Ter)
c.5041C>T (p.Gln1681Ter)
c.5020C>T (p.Gln1674Ter)
c.3931C>T (p.Gln1311Ter)
c.5029C>T (p.Gln1677Ter)
n.911C>T
11g.70473363G>CCA381676517SHANK2c.3289C>G (p.Gln1097Glu)
c.834C>G (n.834C>G)
c.5056C>G (p.Gln1686Glu)
c.2565C>G
c.3919C>G (p.Gln1307Glu)
c.3346C>G (p.Gln1116Glu)
c.3292C>G (p.Gln1098Glu)
c.*60C>G (n.*60C>G)
c.3268C>G (p.Gln1090Glu)
c.832C>G
c.2893C>G (p.Gln965Glu)
n.1808C>G
n.910C>G
c.5026C>G (p.Gln1676Glu)
c.5068C>G (p.Gln1690Glu)
c.5047C>G (p.Gln1683Glu)
c.5041C>G (p.Gln1681Glu)
c.5020C>G (p.Gln1674Glu)
c.3931C>G (p.Gln1311Glu)
c.5029C>G (p.Gln1677Glu)
n.911C>G
11g.70473363G>TCA381676519SHANK2c.3289C>A (p.Gln1097Lys)
c.834C>A (n.834C>A)
c.5056C>A (p.Gln1686Lys)
c.2565C>A
c.3919C>A (p.Gln1307Lys)
c.3346C>A (p.Gln1116Lys)
c.3292C>A (p.Gln1098Lys)
c.*60C>A (n.*60C>A)
c.3268C>A (p.Gln1090Lys)
c.832C>A
c.2893C>A (p.Gln965Lys)
n.1808C>A
n.910C>A
c.5026C>A (p.Gln1676Lys)
c.5068C>A (p.Gln1690Lys)
c.5047C>A (p.Gln1683Lys)
c.5041C>A (p.Gln1681Lys)
c.5020C>A (p.Gln1674Lys)
c.3931C>A (p.Gln1311Lys)
c.5029C>A (p.Gln1677Lys)
n.911C>A
11g.70473364G>ACA6160779SHANK2c.3288C>T (p.Ser1096=)
c.833C>T (n.833C>T)
c.5055C>T (p.Ser1685=)
c.2564C>T
c.3918C>T (p.Ser1306=)
c.3345C>T (p.Ser1115=)
c.3291C>T (p.Ser1097=)
c.*59C>T (n.*59C>T)
c.3267C>T (p.Ser1089=)
c.831C>T
c.2892C>T (p.Ser964=)
n.1807C>T
n.909C>T
c.5025C>T (p.Ser1675=)
c.5067C>T (p.Ser1689=)
c.5046C>T (p.Ser1682=)
c.5040C>T (p.Ser1680=)
c.5019C>T (p.Ser1673=)
c.3930C>T (p.Ser1310=)
c.5028C>T (p.Ser1676=)
n.910C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473364G>CCA475470777SHANK2c.3288C>G (p.Ser1096=)
c.833C>G (n.833C>G)
c.5055C>G (p.Ser1685=)
c.2564C>G
c.3918C>G (p.Ser1306=)
c.3345C>G (p.Ser1115=)
c.3291C>G (p.Ser1097=)
c.*59C>G (n.*59C>G)
c.3267C>G (p.Ser1089=)
c.831C>G
c.2892C>G (p.Ser964=)
n.1807C>G
n.909C>G
c.5025C>G (p.Ser1675=)
c.5067C>G (p.Ser1689=)
c.5046C>G (p.Ser1682=)
c.5040C>G (p.Ser1680=)
c.5019C>G (p.Ser1673=)
c.3930C>G (p.Ser1310=)
c.5028C>G (p.Ser1676=)
n.910C>G
11g.70473364G=CA1981068023SHANK2c.3288C= (p.Ser1096=)
c.833C= (n.833C=)
c.5055C= (p.Ser1685=)
c.2564C=
c.3918C= (p.Ser1306=)
c.3345C= (p.Ser1115=)
c.3291C= (p.Ser1097=)
c.*59C= (n.*59C=)
c.3267C= (p.Ser1089=)
c.831C=
c.2892C= (p.Ser964=)
n.1807C=
n.909C=
c.5025C= (p.Ser1675=)
c.5067C= (p.Ser1689=)
c.5046C= (p.Ser1682=)
c.5040C= (p.Ser1680=)
c.5019C= (p.Ser1673=)
c.3930C= (p.Ser1310=)
c.5028C= (p.Ser1676=)
n.910C=
11g.70473364G>TCA475470778SHANK2c.3288C>A (p.Ser1096=)
c.833C>A (n.833C>A)
c.5055C>A (p.Ser1685=)
c.2564C>A
c.3918C>A (p.Ser1306=)
c.3345C>A (p.Ser1115=)
c.3291C>A (p.Ser1097=)
c.*59C>A (n.*59C>A)
c.3267C>A (p.Ser1089=)
c.831C>A
c.2892C>A (p.Ser964=)
n.1807C>A
n.909C>A
c.5025C>A (p.Ser1675=)
c.5067C>A (p.Ser1689=)
c.5046C>A (p.Ser1682=)
c.5040C>A (p.Ser1680=)
c.5019C>A (p.Ser1673=)
c.3930C>A (p.Ser1310=)
c.5028C>A (p.Ser1676=)
n.910C>A
11g.70473365G>ACA381676522SHANK2c.3287C>T (p.Ser1096Phe)
c.832C>T (n.832C>T)
c.5054C>T (p.Ser1685Phe)
c.2563C>T
c.3917C>T (p.Ser1306Phe)
c.3344C>T (p.Ser1115Phe)
c.3290C>T (p.Ser1097Phe)
c.*58C>T (n.*58C>T)
c.3266C>T (p.Ser1089Phe)
c.830C>T
c.2891C>T (p.Ser964Phe)
n.1806C>T
n.908C>T
c.5024C>T (p.Ser1675Phe)
c.5066C>T (p.Ser1689Phe)
c.5045C>T (p.Ser1682Phe)
c.5039C>T (p.Ser1680Phe)
c.5018C>T (p.Ser1673Phe)
c.3929C>T (p.Ser1310Phe)
c.5027C>T (p.Ser1676Phe)
n.909C>T
11g.70473365G>CCA6160780SHANK2c.3287C>G (p.Ser1096Cys)
c.832C>G (n.832C>G)
c.5054C>G (p.Ser1685Cys)
c.2563C>G
c.3917C>G (p.Ser1306Cys)
c.3344C>G (p.Ser1115Cys)
c.3290C>G (p.Ser1097Cys)
c.*58C>G (n.*58C>G)
c.3266C>G (p.Ser1089Cys)
c.830C>G
c.2891C>G (p.Ser964Cys)
n.1806C>G
n.908C>G
c.5024C>G (p.Ser1675Cys)
c.5066C>G (p.Ser1689Cys)
c.5045C>G (p.Ser1682Cys)
c.5039C>G (p.Ser1680Cys)
c.5018C>G (p.Ser1673Cys)
c.3929C>G (p.Ser1310Cys)
c.5027C>G (p.Ser1676Cys)
n.909C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473365G=CA1981068024SHANK2c.3287C= (p.Ser1096=)
c.832C= (n.832C=)
c.5054C= (p.Ser1685=)
c.2563C=
c.3917C= (p.Ser1306=)
c.3344C= (p.Ser1115=)
c.3290C= (p.Ser1097=)
c.*58C= (n.*58C=)
c.3266C= (p.Ser1089=)
c.830C=
c.2891C= (p.Ser964=)
n.1806C=
n.908C=
c.5024C= (p.Ser1675=)
c.5066C= (p.Ser1689=)
c.5045C= (p.Ser1682=)
c.5039C= (p.Ser1680=)
c.5018C= (p.Ser1673=)
c.3929C= (p.Ser1310=)
c.5027C= (p.Ser1676=)
n.909C=
11g.70473365G>TCA381676525SHANK2c.3287C>A (p.Ser1096Tyr)
c.832C>A (n.832C>A)
c.5054C>A (p.Ser1685Tyr)
c.2563C>A
c.3917C>A (p.Ser1306Tyr)
c.3344C>A (p.Ser1115Tyr)
c.3290C>A (p.Ser1097Tyr)
c.*58C>A (n.*58C>A)
c.3266C>A (p.Ser1089Tyr)
c.830C>A
c.2891C>A (p.Ser964Tyr)
n.1806C>A
n.908C>A
c.5024C>A (p.Ser1675Tyr)
c.5066C>A (p.Ser1689Tyr)
c.5045C>A (p.Ser1682Tyr)
c.5039C>A (p.Ser1680Tyr)
c.5018C>A (p.Ser1673Tyr)
c.3929C>A (p.Ser1310Tyr)
c.5027C>A (p.Ser1676Tyr)
n.909C>A
11g.70473366A=CA1981068025SHANK2c.3286T= (p.Ser1096=)
c.831T= (n.831T=)
c.5053T= (p.Ser1685=)
c.2562T=
c.3916T= (p.Ser1306=)
c.3343T= (p.Ser1115=)
c.3289T= (p.Ser1097=)
c.*57T= (n.*57T=)
c.3265T= (p.Ser1089=)
c.829T=
c.2890T= (p.Ser964=)
n.1805T=
n.907T=
c.5023T= (p.Ser1675=)
c.5065T= (p.Ser1689=)
c.5044T= (p.Ser1682=)
c.5038T= (p.Ser1680=)
c.5017T= (p.Ser1673=)
c.3928T= (p.Ser1310=)
c.5026T= (p.Ser1676=)
n.908T=
11g.70473366A>CCA381676529SHANK2c.3286T>G (p.Ser1096Ala)
c.831T>G (n.831T>G)
c.5053T>G (p.Ser1685Ala)
c.2562T>G
c.3916T>G (p.Ser1306Ala)
c.3343T>G (p.Ser1115Ala)
c.3289T>G (p.Ser1097Ala)
c.*57T>G (n.*57T>G)
c.3265T>G (p.Ser1089Ala)
c.829T>G
c.2890T>G (p.Ser964Ala)
n.1805T>G
n.907T>G
c.5023T>G (p.Ser1675Ala)
c.5065T>G (p.Ser1689Ala)
c.5044T>G (p.Ser1682Ala)
c.5038T>G (p.Ser1680Ala)
c.5017T>G (p.Ser1673Ala)
c.3928T>G (p.Ser1310Ala)
c.5026T>G (p.Ser1676Ala)
n.908T>G
11g.70473366A>GCA381676531SHANK2c.3286T>C (p.Ser1096Pro)
c.831T>C (n.831T>C)
c.5053T>C (p.Ser1685Pro)
c.2562T>C
c.3916T>C (p.Ser1306Pro)
c.3343T>C (p.Ser1115Pro)
c.3289T>C (p.Ser1097Pro)
c.*57T>C (n.*57T>C)
c.3265T>C (p.Ser1089Pro)
c.829T>C
c.2890T>C (p.Ser964Pro)
n.1805T>C
n.907T>C
c.5023T>C (p.Ser1675Pro)
c.5065T>C (p.Ser1689Pro)
c.5044T>C (p.Ser1682Pro)
c.5038T>C (p.Ser1680Pro)
c.5017T>C (p.Ser1673Pro)
c.3928T>C (p.Ser1310Pro)
c.5026T>C (p.Ser1676Pro)
n.908T>C
 dbSNP
11g.70473366A>TCA381676527SHANK2c.3286T>A (p.Ser1096Thr)
c.831T>A (n.831T>A)
c.5053T>A (p.Ser1685Thr)
c.2562T>A
c.3916T>A (p.Ser1306Thr)
c.3343T>A (p.Ser1115Thr)
c.3289T>A (p.Ser1097Thr)
c.*57T>A (n.*57T>A)
c.3265T>A (p.Ser1089Thr)
c.829T>A
c.2890T>A (p.Ser964Thr)
n.1805T>A
n.907T>A
c.5023T>A (p.Ser1675Thr)
c.5065T>A (p.Ser1689Thr)
c.5044T>A (p.Ser1682Thr)
c.5038T>A (p.Ser1680Thr)
c.5017T>A (p.Ser1673Thr)
c.3928T>A (p.Ser1310Thr)
c.5026T>A (p.Ser1676Thr)
n.908T>A
11g.70473367G>ACA475470779SHANK2c.3285C>T (p.Thr1095=)
c.830C>T (n.830C>T)
c.5052C>T (p.Thr1684=)
c.2561C>T
c.3915C>T (p.Thr1305=)
c.3342C>T (p.Thr1114=)
c.3288C>T (p.Thr1096=)
c.*56C>T (n.*56C>T)
c.3264C>T (p.Thr1088=)
c.828C>T
c.2889C>T (p.Thr963=)
n.1804C>T
n.906C>T
c.5022C>T (p.Thr1674=)
c.5064C>T (p.Thr1688=)
c.5043C>T (p.Thr1681=)
c.5037C>T (p.Thr1679=)
c.5016C>T (p.Thr1672=)
c.3927C>T (p.Thr1309=)
c.5025C>T (p.Thr1675=)
n.907C>T
11g.70473367G>CCA475470780SHANK2c.3285C>G (p.Thr1095=)
c.830C>G (n.830C>G)
c.5052C>G (p.Thr1684=)
c.2561C>G
c.3915C>G (p.Thr1305=)
c.3342C>G (p.Thr1114=)
c.3288C>G (p.Thr1096=)
c.*56C>G (n.*56C>G)
c.3264C>G (p.Thr1088=)
c.828C>G
c.2889C>G (p.Thr963=)
n.1804C>G
n.906C>G
c.5022C>G (p.Thr1674=)
c.5064C>G (p.Thr1688=)
c.5043C>G (p.Thr1681=)
c.5037C>G (p.Thr1679=)
c.5016C>G (p.Thr1672=)
c.3927C>G (p.Thr1309=)
c.5025C>G (p.Thr1675=)
n.907C>G
11g.70473367G=CA1981068026SHANK2c.3285C= (p.Thr1095=)
c.830C= (n.830C=)
c.5052C= (p.Thr1684=)
c.2561C=
c.3915C= (p.Thr1305=)
c.3342C= (p.Thr1114=)
c.3288C= (p.Thr1096=)
c.*56C= (n.*56C=)
c.3264C= (p.Thr1088=)
c.828C=
c.2889C= (p.Thr963=)
n.1804C=
n.906C=
c.5022C= (p.Thr1674=)
c.5064C= (p.Thr1688=)
c.5043C= (p.Thr1681=)
c.5037C= (p.Thr1679=)
c.5016C= (p.Thr1672=)
c.3927C= (p.Thr1309=)
c.5025C= (p.Thr1675=)
n.907C=
11g.70473367G>TCA6160781SHANK2c.3285C>A (p.Thr1095=)
c.830C>A (n.830C>A)
c.5052C>A (p.Thr1684=)
c.2561C>A
c.3915C>A (p.Thr1305=)
c.3342C>A (p.Thr1114=)
c.3288C>A (p.Thr1096=)
c.*56C>A (n.*56C>A)
c.3264C>A (p.Thr1088=)
c.828C>A
c.2889C>A (p.Thr963=)
n.1804C>A
n.906C>A
c.5022C>A (p.Thr1674=)
c.5064C>A (p.Thr1688=)
c.5043C>A (p.Thr1681=)
c.5037C>A (p.Thr1679=)
c.5016C>A (p.Thr1672=)
c.3927C>A (p.Thr1309=)
c.5025C>A (p.Thr1675=)
n.907C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473368G>ACA381676534SHANK2c.3284C>T (p.Thr1095Ile)
c.829C>T (n.829C>T)
c.5051C>T (p.Thr1684Ile)
c.2560C>T
c.3914C>T (p.Thr1305Ile)
c.3341C>T (p.Thr1114Ile)
c.3287C>T (p.Thr1096Ile)
c.*55C>T (n.*55C>T)
c.3263C>T (p.Thr1088Ile)
c.827C>T
c.2888C>T (p.Thr963Ile)
n.1803C>T
n.905C>T
c.5021C>T (p.Thr1674Ile)
c.5063C>T (p.Thr1688Ile)
c.5042C>T (p.Thr1681Ile)
c.5036C>T (p.Thr1679Ile)
c.5015C>T (p.Thr1672Ile)
c.3926C>T (p.Thr1309Ile)
c.5024C>T (p.Thr1675Ile)
n.906C>T
 dbSNP
11g.70473368G>CCA381676535SHANK2c.3284C>G (p.Thr1095Ser)
c.829C>G (n.829C>G)
c.5051C>G (p.Thr1684Ser)
c.2560C>G
c.3914C>G (p.Thr1305Ser)
c.3341C>G (p.Thr1114Ser)
c.3287C>G (p.Thr1096Ser)
c.*55C>G (n.*55C>G)
c.3263C>G (p.Thr1088Ser)
c.827C>G
c.2888C>G (p.Thr963Ser)
n.1803C>G
n.905C>G
c.5021C>G (p.Thr1674Ser)
c.5063C>G (p.Thr1688Ser)
c.5042C>G (p.Thr1681Ser)
c.5036C>G (p.Thr1679Ser)
c.5015C>G (p.Thr1672Ser)
c.3926C>G (p.Thr1309Ser)
c.5024C>G (p.Thr1675Ser)
n.906C>G
 dbSNP gnomAD v2 gnomAD v4
11g.70473368G=CA1981068027SHANK2c.3284C= (p.Thr1095=)
c.829C= (n.829C=)
c.5051C= (p.Thr1684=)
c.2560C=
c.3914C= (p.Thr1305=)
c.3341C= (p.Thr1114=)
c.3287C= (p.Thr1096=)
c.*55C= (n.*55C=)
c.3263C= (p.Thr1088=)
c.827C=
c.2888C= (p.Thr963=)
n.1803C=
n.905C=
c.5021C= (p.Thr1674=)
c.5063C= (p.Thr1688=)
c.5042C= (p.Thr1681=)
c.5036C= (p.Thr1679=)
c.5015C= (p.Thr1672=)
c.3926C= (p.Thr1309=)
c.5024C= (p.Thr1675=)
n.906C=
11g.70473368G>TCA381676537SHANK2c.3284C>A (p.Thr1095Asn)
c.829C>A (n.829C>A)
c.5051C>A (p.Thr1684Asn)
c.2560C>A
c.3914C>A (p.Thr1305Asn)
c.3341C>A (p.Thr1114Asn)
c.3287C>A (p.Thr1096Asn)
c.*55C>A (n.*55C>A)
c.3263C>A (p.Thr1088Asn)
c.827C>A
c.2888C>A (p.Thr963Asn)
n.1803C>A
n.905C>A
c.5021C>A (p.Thr1674Asn)
c.5063C>A (p.Thr1688Asn)
c.5042C>A (p.Thr1681Asn)
c.5036C>A (p.Thr1679Asn)
c.5015C>A (p.Thr1672Asn)
c.3926C>A (p.Thr1309Asn)
c.5024C>A (p.Thr1675Asn)
n.906C>A
 dbSNP gnomAD v4
11g.70473369T>ACA381676539SHANK2c.3283A>T (p.Thr1095Ser)
c.828A>T (n.828A>T)
c.5050A>T (p.Thr1684Ser)
c.2559A>T
c.3913A>T (p.Thr1305Ser)
c.3340A>T (p.Thr1114Ser)
c.3286A>T (p.Thr1096Ser)
c.*54A>T (n.*54A>T)
c.3262A>T (p.Thr1088Ser)
c.826A>T
c.2887A>T (p.Thr963Ser)
n.1802A>T
n.904A>T
c.5020A>T (p.Thr1674Ser)
c.5062A>T (p.Thr1688Ser)
c.5041A>T (p.Thr1681Ser)
c.5035A>T (p.Thr1679Ser)
c.5014A>T (p.Thr1672Ser)
c.3925A>T (p.Thr1309Ser)
c.5023A>T (p.Thr1675Ser)
n.905A>T
11g.70473369T>CCA381676541SHANK2c.3283A>G (p.Thr1095Ala)
c.828A>G (n.828A>G)
c.5050A>G (p.Thr1684Ala)
c.2559A>G
c.3913A>G (p.Thr1305Ala)
c.3340A>G (p.Thr1114Ala)
c.3286A>G (p.Thr1096Ala)
c.*54A>G (n.*54A>G)
c.3262A>G (p.Thr1088Ala)
c.826A>G
c.2887A>G (p.Thr963Ala)
n.1802A>G
n.904A>G
c.5020A>G (p.Thr1674Ala)
c.5062A>G (p.Thr1688Ala)
c.5041A>G (p.Thr1681Ala)
c.5035A>G (p.Thr1679Ala)
c.5014A>G (p.Thr1672Ala)
c.3925A>G (p.Thr1309Ala)
c.5023A>G (p.Thr1675Ala)
n.905A>G
11g.70473369T>GCA381676543SHANK2c.3283A>C (p.Thr1095Pro)
c.828A>C (n.828A>C)
c.5050A>C (p.Thr1684Pro)
c.2559A>C
c.3913A>C (p.Thr1305Pro)
c.3340A>C (p.Thr1114Pro)
c.3286A>C (p.Thr1096Pro)
c.*54A>C (n.*54A>C)
c.3262A>C (p.Thr1088Pro)
c.826A>C
c.2887A>C (p.Thr963Pro)
n.1802A>C
n.904A>C
c.5020A>C (p.Thr1674Pro)
c.5062A>C (p.Thr1688Pro)
c.5041A>C (p.Thr1681Pro)
c.5035A>C (p.Thr1679Pro)
c.5014A>C (p.Thr1672Pro)
c.3925A>C (p.Thr1309Pro)
c.5023A>C (p.Thr1675Pro)
n.905A>C
 dbSNP
11g.70473369T=CA1981068028SHANK2c.3283A= (p.Thr1095=)
c.828A= (n.828A=)
c.5050A= (p.Thr1684=)
c.2559A=
c.3913A= (p.Thr1305=)
c.3340A= (p.Thr1114=)
c.3286A= (p.Thr1096=)
c.*54A= (n.*54A=)
c.3262A= (p.Thr1088=)
c.826A=
c.2887A= (p.Thr963=)
n.1802A=
n.904A=
c.5020A= (p.Thr1674=)
c.5062A= (p.Thr1688=)
c.5041A= (p.Thr1681=)
c.5035A= (p.Thr1679=)
c.5014A= (p.Thr1672=)
c.3925A= (p.Thr1309=)
c.5023A= (p.Thr1675=)
n.905A=
11g.70473370G>ACA475470782SHANK2c.3282C>T (p.Gly1094=)
c.827C>T (n.827C>T)
c.5049C>T (p.Gly1683=)
c.2558C>T
c.3912C>T (p.Gly1304=)
c.3339C>T (p.Gly1113=)
c.3285C>T (p.Gly1095=)
c.*53C>T (n.*53C>T)
c.3261C>T (p.Gly1087=)
c.825C>T
c.2886C>T (p.Gly962=)
n.1801C>T
n.903C>T
c.5019C>T (p.Gly1673=)
c.5061C>T (p.Gly1687=)
c.5040C>T (p.Gly1680=)
c.5034C>T (p.Gly1678=)
c.5013C>T (p.Gly1671=)
c.3924C>T (p.Gly1308=)
c.5022C>T (p.Gly1674=)
n.904C>T
11g.70473370G>CCA475470783SHANK2c.3282C>G (p.Gly1094=)
c.827C>G (n.827C>G)
c.5049C>G (p.Gly1683=)
c.2558C>G
c.3912C>G (p.Gly1304=)
c.3339C>G (p.Gly1113=)
c.3285C>G (p.Gly1095=)
c.*53C>G (n.*53C>G)
c.3261C>G (p.Gly1087=)
c.825C>G
c.2886C>G (p.Gly962=)
n.1801C>G
n.903C>G
c.5019C>G (p.Gly1673=)
c.5061C>G (p.Gly1687=)
c.5040C>G (p.Gly1680=)
c.5034C>G (p.Gly1678=)
c.5013C>G (p.Gly1671=)
c.3924C>G (p.Gly1308=)
c.5022C>G (p.Gly1674=)
n.904C>G
11g.70473370G>TCA475470785SHANK2c.3282C>A (p.Gly1094=)
c.827C>A (n.827C>A)
c.5049C>A (p.Gly1683=)
c.2558C>A
c.3912C>A (p.Gly1304=)
c.3339C>A (p.Gly1113=)
c.3285C>A (p.Gly1095=)
c.*53C>A (n.*53C>A)
c.3261C>A (p.Gly1087=)
c.825C>A
c.2886C>A (p.Gly962=)
n.1801C>A
n.903C>A
c.5019C>A (p.Gly1673=)
c.5061C>A (p.Gly1687=)
c.5040C>A (p.Gly1680=)
c.5034C>A (p.Gly1678=)
c.5013C>A (p.Gly1671=)
c.3924C>A (p.Gly1308=)
c.5022C>A (p.Gly1674=)
n.904C>A
 gnomAD v4
11g.70473371C>ACA381676546SHANK2c.3281G>T (p.Gly1094Val)
c.826G>T (n.826G>T)
c.5048G>T (p.Gly1683Val)
c.2557G>T
c.3911G>T (p.Gly1304Val)
c.3338G>T (p.Gly1113Val)
c.3284G>T (p.Gly1095Val)
c.*52G>T (n.*52G>T)
c.3260G>T (p.Gly1087Val)
c.824G>T
c.2885G>T (p.Gly962Val)
n.1800G>T
n.902G>T
c.5018G>T (p.Gly1673Val)
c.5060G>T (p.Gly1687Val)
c.5039G>T (p.Gly1680Val)
c.5033G>T (p.Gly1678Val)
c.5012G>T (p.Gly1671Val)
c.3923G>T (p.Gly1308Val)
c.5021G>T (p.Gly1674Val)
n.903G>T
11g.70473371C=CA1981068029SHANK2c.3281G= (p.Gly1094=)
c.826G= (n.826G=)
c.5048G= (p.Gly1683=)
c.2557G=
c.3911G= (p.Gly1304=)
c.3338G= (p.Gly1113=)
c.3284G= (p.Gly1095=)
c.*52G= (n.*52G=)
c.3260G= (p.Gly1087=)
c.824G=
c.2885G= (p.Gly962=)
n.1800G=
n.902G=
c.5018G= (p.Gly1673=)
c.5060G= (p.Gly1687=)
c.5039G= (p.Gly1680=)
c.5033G= (p.Gly1678=)
c.5012G= (p.Gly1671=)
c.3923G= (p.Gly1308=)
c.5021G= (p.Gly1674=)
n.903G=
11g.70473371C>GCA381676548SHANK2c.3281G>C (p.Gly1094Ala)
c.826G>C (n.826G>C)
c.5048G>C (p.Gly1683Ala)
c.2557G>C
c.3911G>C (p.Gly1304Ala)
c.3338G>C (p.Gly1113Ala)
c.3284G>C (p.Gly1095Ala)
c.*52G>C (n.*52G>C)
c.3260G>C (p.Gly1087Ala)
c.824G>C
c.2885G>C (p.Gly962Ala)
n.1800G>C
n.902G>C
c.5018G>C (p.Gly1673Ala)
c.5060G>C (p.Gly1687Ala)
c.5039G>C (p.Gly1680Ala)
c.5033G>C (p.Gly1678Ala)
c.5012G>C (p.Gly1671Ala)
c.3923G>C (p.Gly1308Ala)
c.5021G>C (p.Gly1674Ala)
n.903G>C
11g.70473371C>TCA381676550SHANK2c.3281G>A (p.Gly1094Asp)
c.826G>A (n.826G>A)
c.5048G>A (p.Gly1683Asp)
c.2557G>A
c.3911G>A (p.Gly1304Asp)
c.3338G>A (p.Gly1113Asp)
c.3284G>A (p.Gly1095Asp)
c.*52G>A (n.*52G>A)
c.3260G>A (p.Gly1087Asp)
c.824G>A
c.2885G>A (p.Gly962Asp)
n.1800G>A
n.902G>A
c.5018G>A (p.Gly1673Asp)
c.5060G>A (p.Gly1687Asp)
c.5039G>A (p.Gly1680Asp)
c.5033G>A (p.Gly1678Asp)
c.5012G>A (p.Gly1671Asp)
c.3923G>A (p.Gly1308Asp)
c.5021G>A (p.Gly1674Asp)
n.903G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70473372C>ACA381676552SHANK2c.3280G>T (p.Gly1094Cys)
c.825G>T (n.825G>T)
c.5047G>T (p.Gly1683Cys)
c.2556G>T
c.3910G>T (p.Gly1304Cys)
c.3337G>T (p.Gly1113Cys)
c.3283G>T (p.Gly1095Cys)
c.*51G>T (n.*51G>T)
c.3259G>T (p.Gly1087Cys)
c.823G>T
c.2884G>T (p.Gly962Cys)
n.1799G>T
n.901G>T
c.5017G>T (p.Gly1673Cys)
c.5059G>T (p.Gly1687Cys)
c.5038G>T (p.Gly1680Cys)
c.5032G>T (p.Gly1678Cys)
c.5011G>T (p.Gly1671Cys)
c.3922G>T (p.Gly1308Cys)
c.5020G>T (p.Gly1674Cys)
n.902G>T
 COSMIC COSMIC COSMIC
11g.70473372C=CA1981068030SHANK2c.3280G= (p.Gly1094=)
c.825G= (n.825G=)
c.5047G= (p.Gly1683=)
c.2556G=
c.3910G= (p.Gly1304=)
c.3337G= (p.Gly1113=)
c.3283G= (p.Gly1095=)
c.*51G= (n.*51G=)
c.3259G= (p.Gly1087=)
c.823G=
c.2884G= (p.Gly962=)
n.1799G=
n.901G=
c.5017G= (p.Gly1673=)
c.5059G= (p.Gly1687=)
c.5038G= (p.Gly1680=)
c.5032G= (p.Gly1678=)
c.5011G= (p.Gly1671=)
c.3922G= (p.Gly1308=)
c.5020G= (p.Gly1674=)
n.902G=
11g.70473372C>GCA381676554SHANK2c.3280G>C (p.Gly1094Arg)
c.825G>C (n.825G>C)
c.5047G>C (p.Gly1683Arg)
c.2556G>C
c.3910G>C (p.Gly1304Arg)
c.3337G>C (p.Gly1113Arg)
c.3283G>C (p.Gly1095Arg)
c.*51G>C (n.*51G>C)
c.3259G>C (p.Gly1087Arg)
c.823G>C
c.2884G>C (p.Gly962Arg)
n.1799G>C
n.901G>C
c.5017G>C (p.Gly1673Arg)
c.5059G>C (p.Gly1687Arg)
c.5038G>C (p.Gly1680Arg)
c.5032G>C (p.Gly1678Arg)
c.5011G>C (p.Gly1671Arg)
c.3922G>C (p.Gly1308Arg)
c.5020G>C (p.Gly1674Arg)
n.902G>C
11g.70473372C>TCA6160782SHANK2c.3280G>A (p.Gly1094Ser)
c.825G>A (n.825G>A)
c.5047G>A (p.Gly1683Ser)
c.2556G>A
c.3910G>A (p.Gly1304Ser)
c.3337G>A (p.Gly1113Ser)
c.3283G>A (p.Gly1095Ser)
c.*51G>A (n.*51G>A)
c.3259G>A (p.Gly1087Ser)
c.823G>A
c.2884G>A (p.Gly962Ser)
n.1799G>A
n.901G>A
c.5017G>A (p.Gly1673Ser)
c.5059G>A (p.Gly1687Ser)
c.5038G>A (p.Gly1680Ser)
c.5032G>A (p.Gly1678Ser)
c.5011G>A (p.Gly1671Ser)
c.3922G>A (p.Gly1308Ser)
c.5020G>A (p.Gly1674Ser)
n.902G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473373G>ACA475470788SHANK2c.3279C>T (p.Pro1093=)
c.824C>T (n.824C>T)
c.5046C>T (p.Pro1682=)
c.2555C>T
c.3909C>T (p.Pro1303=)
c.3336C>T (p.Pro1112=)
c.3282C>T (p.Pro1094=)
c.*50C>T (n.*50C>T)
c.3258C>T (p.Pro1086=)
c.822C>T
c.2883C>T (p.Pro961=)
n.1798C>T
n.900C>T
c.5016C>T (p.Pro1672=)
c.5058C>T (p.Pro1686=)
c.5037C>T (p.Pro1679=)
c.5031C>T (p.Pro1677=)
c.5010C>T (p.Pro1670=)
c.3921C>T (p.Pro1307=)
c.5019C>T (p.Pro1673=)
n.901C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473373G>CCA475470789SHANK2c.3279C>G (p.Pro1093=)
c.824C>G (n.824C>G)
c.5046C>G (p.Pro1682=)
c.2555C>G
c.3909C>G (p.Pro1303=)
c.3336C>G (p.Pro1112=)
c.3282C>G (p.Pro1094=)
c.*50C>G (n.*50C>G)
c.3258C>G (p.Pro1086=)
c.822C>G
c.2883C>G (p.Pro961=)
n.1798C>G
n.900C>G
c.5016C>G (p.Pro1672=)
c.5058C>G (p.Pro1686=)
c.5037C>G (p.Pro1679=)
c.5031C>G (p.Pro1677=)
c.5010C>G (p.Pro1670=)
c.3921C>G (p.Pro1307=)
c.5019C>G (p.Pro1673=)
n.901C>G
 gnomAD v4
11g.70473373G=CA1981068031SHANK2c.3279C= (p.Pro1093=)
c.824C= (n.824C=)
c.5046C= (p.Pro1682=)
c.2555C=
c.3909C= (p.Pro1303=)
c.3336C= (p.Pro1112=)
c.3282C= (p.Pro1094=)
c.*50C= (n.*50C=)
c.3258C= (p.Pro1086=)
c.822C=
c.2883C= (p.Pro961=)
n.1798C=
n.900C=
c.5016C= (p.Pro1672=)
c.5058C= (p.Pro1686=)
c.5037C= (p.Pro1679=)
c.5031C= (p.Pro1677=)
c.5010C= (p.Pro1670=)
c.3921C= (p.Pro1307=)
c.5019C= (p.Pro1673=)
n.901C=
11g.70473373G>TCA475470791SHANK2c.3279C>A (p.Pro1093=)
c.824C>A (n.824C>A)
c.5046C>A (p.Pro1682=)
c.2555C>A
c.3909C>A (p.Pro1303=)
c.3336C>A (p.Pro1112=)
c.3282C>A (p.Pro1094=)
c.*50C>A (n.*50C>A)
c.3258C>A (p.Pro1086=)
c.822C>A
c.2883C>A (p.Pro961=)
n.1798C>A
n.900C>A
c.5016C>A (p.Pro1672=)
c.5058C>A (p.Pro1686=)
c.5037C>A (p.Pro1679=)
c.5031C>A (p.Pro1677=)
c.5010C>A (p.Pro1670=)
c.3921C>A (p.Pro1307=)
c.5019C>A (p.Pro1673=)
n.901C>A
 gnomAD v4
11g.70473376delCA2614835681SHANK2c.3279del (p.Gly1094AlafsTer?)
c.824del (n.824del)
c.5046del (p.Gly1683AlafsTer?)
c.2555del
c.3909del (p.Gly1304AlafsTer?)
c.3336del (p.Gly1113AlafsTer?)
c.3282del (p.Gly1095AlafsTer?)
c.*50del (n.*50del)
c.3258del (p.Gly1087AlafsTer?)
c.822del
c.2883del (p.Gly962AlafsTer?)
n.1798del
n.900del
c.5016del (p.Gly1673AlafsTer?)
c.5058del (p.Gly1687AlafsTer?)
c.5037del (p.Gly1680AlafsTer?)
c.5031del (p.Gly1678AlafsTer?)
c.5010del (p.Gly1671AlafsTer?)
c.3921del (p.Gly1308AlafsTer?)
c.5019del (p.Gly1674AlafsTer?)
n.901del
 gnomAD v4
11g.70473374G>ACA381676574SHANK2c.3278C>T (p.Pro1093Leu)
c.823C>T (n.823C>T)
c.5045C>T (p.Pro1682Leu)
c.2554C>T
c.3908C>T (p.Pro1303Leu)
c.3335C>T (p.Pro1112Leu)
c.3281C>T (p.Pro1094Leu)
c.*49C>T (n.*49C>T)
c.3257C>T (p.Pro1086Leu)
c.821C>T
c.2882C>T (p.Pro961Leu)
n.1797C>T
n.899C>T
c.5015C>T (p.Pro1672Leu)
c.5057C>T (p.Pro1686Leu)
c.5036C>T (p.Pro1679Leu)
c.5030C>T (p.Pro1677Leu)
c.5009C>T (p.Pro1670Leu)
c.3920C>T (p.Pro1307Leu)
c.5018C>T (p.Pro1673Leu)
n.900C>T
11g.70473374G>CCA381676571SHANK2c.3278C>G (p.Pro1093Arg)
c.823C>G (n.823C>G)
c.5045C>G (p.Pro1682Arg)
c.2554C>G
c.3908C>G (p.Pro1303Arg)
c.3335C>G (p.Pro1112Arg)
c.3281C>G (p.Pro1094Arg)
c.*49C>G (n.*49C>G)
c.3257C>G (p.Pro1086Arg)
c.821C>G
c.2882C>G (p.Pro961Arg)
n.1797C>G
n.899C>G
c.5015C>G (p.Pro1672Arg)
c.5057C>G (p.Pro1686Arg)
c.5036C>G (p.Pro1679Arg)
c.5030C>G (p.Pro1677Arg)
c.5009C>G (p.Pro1670Arg)
c.3920C>G (p.Pro1307Arg)
c.5018C>G (p.Pro1673Arg)
n.900C>G
11g.70473374G>TCA381676572SHANK2c.3278C>A (p.Pro1093His)
c.823C>A (n.823C>A)
c.5045C>A (p.Pro1682His)
c.2554C>A
c.3908C>A (p.Pro1303His)
c.3335C>A (p.Pro1112His)
c.3281C>A (p.Pro1094His)
c.*49C>A (n.*49C>A)
c.3257C>A (p.Pro1086His)
c.821C>A
c.2882C>A (p.Pro961His)
n.1797C>A
n.899C>A
c.5015C>A (p.Pro1672His)
c.5057C>A (p.Pro1686His)
c.5036C>A (p.Pro1679His)
c.5030C>A (p.Pro1677His)
c.5009C>A (p.Pro1670His)
c.3920C>A (p.Pro1307His)
c.5018C>A (p.Pro1673His)
n.900C>A
 gnomAD v4
11g.70473375G>ACA381676577SHANK2c.3277C>T (p.Pro1093Ser)
c.822C>T (n.822C>T)
c.5044C>T (p.Pro1682Ser)
c.2553C>T
c.3907C>T (p.Pro1303Ser)
c.3334C>T (p.Pro1112Ser)
c.3280C>T (p.Pro1094Ser)
c.*48C>T (n.*48C>T)
c.3256C>T (p.Pro1086Ser)
c.820C>T
c.2881C>T (p.Pro961Ser)
n.1796C>T
n.898C>T
c.5014C>T (p.Pro1672Ser)
c.5056C>T (p.Pro1686Ser)
c.5035C>T (p.Pro1679Ser)
c.5029C>T (p.Pro1677Ser)
c.5008C>T (p.Pro1670Ser)
c.3919C>T (p.Pro1307Ser)
c.5017C>T (p.Pro1673Ser)
n.899C>T
11g.70473375G>CCA381676578SHANK2c.3277C>G (p.Pro1093Ala)
c.822C>G (n.822C>G)
c.5044C>G (p.Pro1682Ala)
c.2553C>G
c.3907C>G (p.Pro1303Ala)
c.3334C>G (p.Pro1112Ala)
c.3280C>G (p.Pro1094Ala)
c.*48C>G (n.*48C>G)
c.3256C>G (p.Pro1086Ala)
c.820C>G
c.2881C>G (p.Pro961Ala)
n.1796C>G
n.898C>G
c.5014C>G (p.Pro1672Ala)
c.5056C>G (p.Pro1686Ala)
c.5035C>G (p.Pro1679Ala)
c.5029C>G (p.Pro1677Ala)
c.5008C>G (p.Pro1670Ala)
c.3919C>G (p.Pro1307Ala)
c.5017C>G (p.Pro1673Ala)
n.899C>G
11g.70473375G>TCA381676580SHANK2c.3277C>A (p.Pro1093Thr)
c.822C>A (n.822C>A)
c.5044C>A (p.Pro1682Thr)
c.2553C>A
c.3907C>A (p.Pro1303Thr)
c.3334C>A (p.Pro1112Thr)
c.3280C>A (p.Pro1094Thr)
c.*48C>A (n.*48C>A)
c.3256C>A (p.Pro1086Thr)
c.820C>A
c.2881C>A (p.Pro961Thr)
n.1796C>A
n.898C>A
c.5014C>A (p.Pro1672Thr)
c.5056C>A (p.Pro1686Thr)
c.5035C>A (p.Pro1679Thr)
c.5029C>A (p.Pro1677Thr)
c.5008C>A (p.Pro1670Thr)
c.3919C>A (p.Pro1307Thr)
c.5017C>A (p.Pro1673Thr)
n.899C>A
 gnomAD v4
11g.70473376G>ACA475470794SHANK2c.3276C>T (p.Arg1092=)
c.821C>T (n.821C>T)
c.5043C>T (p.Arg1681=)
c.2552C>T
c.3906C>T (p.Arg1302=)
c.3333C>T (p.Arg1111=)
c.3279C>T (p.Arg1093=)
c.*47C>T (n.*47C>T)
c.3255C>T (p.Arg1085=)
c.819C>T
c.2880C>T (p.Arg960=)
n.1795C>T
n.897C>T
c.5013C>T (p.Arg1671=)
c.5055C>T (p.Arg1685=)
c.5034C>T (p.Arg1678=)
c.5028C>T (p.Arg1676=)
c.5007C>T (p.Arg1669=)
c.3918C>T (p.Arg1306=)
c.5016C>T (p.Arg1672=)
n.898C>T
11g.70473376G>CCA475470797SHANK2c.3276C>G (p.Arg1092=)
c.821C>G (n.821C>G)
c.5043C>G (p.Arg1681=)
c.2552C>G
c.3906C>G (p.Arg1302=)
c.3333C>G (p.Arg1111=)
c.3279C>G (p.Arg1093=)
c.*47C>G (n.*47C>G)
c.3255C>G (p.Arg1085=)
c.819C>G
c.2880C>G (p.Arg960=)
n.1795C>G
n.897C>G
c.5013C>G (p.Arg1671=)
c.5055C>G (p.Arg1685=)
c.5034C>G (p.Arg1678=)
c.5028C>G (p.Arg1676=)
c.5007C>G (p.Arg1669=)
c.3918C>G (p.Arg1306=)
c.5016C>G (p.Arg1672=)
n.898C>G
11g.70473376G>TCA475470795SHANK2c.3276C>A (p.Arg1092=)
c.821C>A (n.821C>A)
c.5043C>A (p.Arg1681=)
c.2552C>A
c.3906C>A (p.Arg1302=)
c.3333C>A (p.Arg1111=)
c.3279C>A (p.Arg1093=)
c.*47C>A (n.*47C>A)
c.3255C>A (p.Arg1085=)
c.819C>A
c.2880C>A (p.Arg960=)
n.1795C>A
n.897C>A
c.5013C>A (p.Arg1671=)
c.5055C>A (p.Arg1685=)
c.5034C>A (p.Arg1678=)
c.5028C>A (p.Arg1676=)
c.5007C>A (p.Arg1669=)
c.3918C>A (p.Arg1306=)
c.5016C>A (p.Arg1672=)
n.898C>A
11g.70473377C>ACA381676582SHANK2c.3275G>T (p.Arg1092Leu)
c.820G>T (n.820G>T)
c.5042G>T (p.Arg1681Leu)
c.2551G>T
c.3905G>T (p.Arg1302Leu)
c.3332G>T (p.Arg1111Leu)
c.3278G>T (p.Arg1093Leu)
c.*46G>T (n.*46G>T)
c.3254G>T (p.Arg1085Leu)
c.818G>T
c.2879G>T (p.Arg960Leu)
n.1794G>T
n.896G>T
c.5012G>T (p.Arg1671Leu)
c.5054G>T (p.Arg1685Leu)
c.5033G>T (p.Arg1678Leu)
c.5027G>T (p.Arg1676Leu)
c.5006G>T (p.Arg1669Leu)
c.3917G>T (p.Arg1306Leu)
c.5015G>T (p.Arg1672Leu)
n.897G>T
11g.70473377C=CA1981068032SHANK2c.3275G= (p.Arg1092=)
c.820G= (n.820G=)
c.5042G= (p.Arg1681=)
c.2551G=
c.3905G= (p.Arg1302=)
c.3332G= (p.Arg1111=)
c.3278G= (p.Arg1093=)
c.*46G= (n.*46G=)
c.3254G= (p.Arg1085=)
c.818G=
c.2879G= (p.Arg960=)
n.1794G=
n.896G=
c.5012G= (p.Arg1671=)
c.5054G= (p.Arg1685=)
c.5033G= (p.Arg1678=)
c.5027G= (p.Arg1676=)
c.5006G= (p.Arg1669=)
c.3917G= (p.Arg1306=)
c.5015G= (p.Arg1672=)
n.897G=
11g.70473377C>GCA381676584SHANK2c.3275G>C (p.Arg1092Pro)
c.820G>C (n.820G>C)
c.5042G>C (p.Arg1681Pro)
c.2551G>C
c.3905G>C (p.Arg1302Pro)
c.3332G>C (p.Arg1111Pro)
c.3278G>C (p.Arg1093Pro)
c.*46G>C (n.*46G>C)
c.3254G>C (p.Arg1085Pro)
c.818G>C
c.2879G>C (p.Arg960Pro)
n.1794G>C
n.896G>C
c.5012G>C (p.Arg1671Pro)
c.5054G>C (p.Arg1685Pro)
c.5033G>C (p.Arg1678Pro)
c.5027G>C (p.Arg1676Pro)
c.5006G>C (p.Arg1669Pro)
c.3917G>C (p.Arg1306Pro)
c.5015G>C (p.Arg1672Pro)
n.897G>C
11g.70473377C>TCA6160783SHANK2c.3275G>A (p.Arg1092His)
c.820G>A (n.820G>A)
c.5042G>A (p.Arg1681His)
c.2551G>A
c.3905G>A (p.Arg1302His)
c.3332G>A (p.Arg1111His)
c.3278G>A (p.Arg1093His)
c.*46G>A (n.*46G>A)
c.3254G>A (p.Arg1085His)
c.818G>A
c.2879G>A (p.Arg960His)
n.1794G>A
n.896G>A
c.5012G>A (p.Arg1671His)
c.5054G>A (p.Arg1685His)
c.5033G>A (p.Arg1678His)
c.5027G>A (p.Arg1676His)
c.5006G>A (p.Arg1669His)
c.3917G>A (p.Arg1306His)
c.5015G>A (p.Arg1672His)
n.897G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473378G>ACA381676588SHANK2c.3274C>T (p.Arg1092Cys)
c.819C>T (n.819C>T)
c.5041C>T (p.Arg1681Cys)
c.2550C>T
c.3904C>T (p.Arg1302Cys)
c.3331C>T (p.Arg1111Cys)
c.3277C>T (p.Arg1093Cys)
c.*45C>T (n.*45C>T)
c.3253C>T (p.Arg1085Cys)
c.817C>T
c.2878C>T (p.Arg960Cys)
n.1793C>T
n.895C>T
c.5011C>T (p.Arg1671Cys)
c.5053C>T (p.Arg1685Cys)
c.5032C>T (p.Arg1678Cys)
c.5026C>T (p.Arg1676Cys)
c.5005C>T (p.Arg1669Cys)
c.3916C>T (p.Arg1306Cys)
c.5014C>T (p.Arg1672Cys)
n.896C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473378G>CCA381676590SHANK2c.3274C>G (p.Arg1092Gly)
c.819C>G (n.819C>G)
c.5041C>G (p.Arg1681Gly)
c.2550C>G
c.3904C>G (p.Arg1302Gly)
c.3331C>G (p.Arg1111Gly)
c.3277C>G (p.Arg1093Gly)
c.*45C>G (n.*45C>G)
c.3253C>G (p.Arg1085Gly)
c.817C>G
c.2878C>G (p.Arg960Gly)
n.1793C>G
n.895C>G
c.5011C>G (p.Arg1671Gly)
c.5053C>G (p.Arg1685Gly)
c.5032C>G (p.Arg1678Gly)
c.5026C>G (p.Arg1676Gly)
c.5005C>G (p.Arg1669Gly)
c.3916C>G (p.Arg1306Gly)
c.5014C>G (p.Arg1672Gly)
n.896C>G
11g.70473378G=CA1981068033SHANK2c.3274C= (p.Arg1092=)
c.819C= (n.819C=)
c.5041C= (p.Arg1681=)
c.2550C=
c.3904C= (p.Arg1302=)
c.3331C= (p.Arg1111=)
c.3277C= (p.Arg1093=)
c.*45C= (n.*45C=)
c.3253C= (p.Arg1085=)
c.817C=
c.2878C= (p.Arg960=)
n.1793C=
n.895C=
c.5011C= (p.Arg1671=)
c.5053C= (p.Arg1685=)
c.5032C= (p.Arg1678=)
c.5026C= (p.Arg1676=)
c.5005C= (p.Arg1669=)
c.3916C= (p.Arg1306=)
c.5014C= (p.Arg1672=)
n.896C=
11g.70473378G>TCA381676595SHANK2c.3274C>A (p.Arg1092Ser)
c.819C>A (n.819C>A)
c.5041C>A (p.Arg1681Ser)
c.2550C>A
c.3904C>A (p.Arg1302Ser)
c.3331C>A (p.Arg1111Ser)
c.3277C>A (p.Arg1093Ser)
c.*45C>A (n.*45C>A)
c.3253C>A (p.Arg1085Ser)
c.817C>A
c.2878C>A (p.Arg960Ser)
n.1793C>A
n.895C>A
c.5011C>A (p.Arg1671Ser)
c.5053C>A (p.Arg1685Ser)
c.5032C>A (p.Arg1678Ser)
c.5026C>A (p.Arg1676Ser)
c.5005C>A (p.Arg1669Ser)
c.3916C>A (p.Arg1306Ser)
c.5014C>A (p.Arg1672Ser)
n.896C>A
 gnomAD v4
11g.70473379A>CCA475470799SHANK2c.3273T>G (p.Val1091=)
c.818T>G (n.818T>G)
c.5040T>G (p.Val1680=)
c.2549T>G
c.3903T>G (p.Val1301=)
c.3330T>G (p.Val1110=)
c.3276T>G (p.Val1092=)
c.*44T>G (n.*44T>G)
c.3252T>G (p.Val1084=)
c.816T>G
c.2877T>G (p.Val959=)
n.1792T>G
n.894T>G
c.5010T>G (p.Val1670=)
c.5052T>G (p.Val1684=)
c.5031T>G (p.Val1677=)
c.5025T>G (p.Val1675=)
c.5004T>G (p.Val1668=)
c.3915T>G (p.Val1305=)
c.5013T>G (p.Val1671=)
n.895T>G
11g.70473379A>GCA475470800SHANK2c.3273T>C (p.Val1091=)
c.818T>C (n.818T>C)
c.5040T>C (p.Val1680=)
c.2549T>C
c.3903T>C (p.Val1301=)
c.3330T>C (p.Val1110=)
c.3276T>C (p.Val1092=)
c.*44T>C (n.*44T>C)
c.3252T>C (p.Val1084=)
c.816T>C
c.2877T>C (p.Val959=)
n.1792T>C
n.894T>C
c.5010T>C (p.Val1670=)
c.5052T>C (p.Val1684=)
c.5031T>C (p.Val1677=)
c.5025T>C (p.Val1675=)
c.5004T>C (p.Val1668=)
c.3915T>C (p.Val1305=)
c.5013T>C (p.Val1671=)
n.895T>C
11g.70473379A>TCA475470802SHANK2c.3273T>A (p.Val1091=)
c.818T>A (n.818T>A)
c.5040T>A (p.Val1680=)
c.2549T>A
c.3903T>A (p.Val1301=)
c.3330T>A (p.Val1110=)
c.3276T>A (p.Val1092=)
c.*44T>A (n.*44T>A)
c.3252T>A (p.Val1084=)
c.816T>A
c.2877T>A (p.Val959=)
n.1792T>A
n.894T>A
c.5010T>A (p.Val1670=)
c.5052T>A (p.Val1684=)
c.5031T>A (p.Val1677=)
c.5025T>A (p.Val1675=)
c.5004T>A (p.Val1668=)
c.3915T>A (p.Val1305=)
c.5013T>A (p.Val1671=)
n.895T>A
11g.70473380A>CCA381676597SHANK2c.3272T>G (p.Val1091Gly)
c.817T>G (n.817T>G)
c.5039T>G (p.Val1680Gly)
c.2548T>G
c.3902T>G (p.Val1301Gly)
c.3329T>G (p.Val1110Gly)
c.3275T>G (p.Val1092Gly)
c.*43T>G (n.*43T>G)
c.3251T>G (p.Val1084Gly)
c.815T>G
c.2876T>G (p.Val959Gly)
n.1791T>G
n.893T>G
c.5009T>G (p.Val1670Gly)
c.5051T>G (p.Val1684Gly)
c.5030T>G (p.Val1677Gly)
c.5024T>G (p.Val1675Gly)
c.5003T>G (p.Val1668Gly)
c.3914T>G (p.Val1305Gly)
c.5012T>G (p.Val1671Gly)
n.894T>G
11g.70473380A>GCA381676599SHANK2c.3272T>C (p.Val1091Ala)
c.817T>C (n.817T>C)
c.5039T>C (p.Val1680Ala)
c.2548T>C
c.3902T>C (p.Val1301Ala)
c.3329T>C (p.Val1110Ala)
c.3275T>C (p.Val1092Ala)
c.*43T>C (n.*43T>C)
c.3251T>C (p.Val1084Ala)
c.815T>C
c.2876T>C (p.Val959Ala)
n.1791T>C
n.893T>C
c.5009T>C (p.Val1670Ala)
c.5051T>C (p.Val1684Ala)
c.5030T>C (p.Val1677Ala)
c.5024T>C (p.Val1675Ala)
c.5003T>C (p.Val1668Ala)
c.3914T>C (p.Val1305Ala)
c.5012T>C (p.Val1671Ala)
n.894T>C
11g.70473380A>TCA381676601SHANK2c.3272T>A (p.Val1091Asp)
c.817T>A (n.817T>A)
c.5039T>A (p.Val1680Asp)
c.2548T>A
c.3902T>A (p.Val1301Asp)
c.3329T>A (p.Val1110Asp)
c.3275T>A (p.Val1092Asp)
c.*43T>A (n.*43T>A)
c.3251T>A (p.Val1084Asp)
c.815T>A
c.2876T>A (p.Val959Asp)
n.1791T>A
n.893T>A
c.5009T>A (p.Val1670Asp)
c.5051T>A (p.Val1684Asp)
c.5030T>A (p.Val1677Asp)
c.5024T>A (p.Val1675Asp)
c.5003T>A (p.Val1668Asp)
c.3914T>A (p.Val1305Asp)
c.5012T>A (p.Val1671Asp)
n.894T>A
11g.70473381C>ACA381676607SHANK2c.3271G>T (p.Val1091Phe)
c.816G>T (n.816G>T)
c.5038G>T (p.Val1680Phe)
c.2547G>T
c.3901G>T (p.Val1301Phe)
c.3328G>T (p.Val1110Phe)
c.3274G>T (p.Val1092Phe)
c.*42G>T (n.*42G>T)
c.3250G>T (p.Val1084Phe)
c.814G>T
c.2875G>T (p.Val959Phe)
n.1790G>T
n.892G>T
c.5008G>T (p.Val1670Phe)
c.5050G>T (p.Val1684Phe)
c.5029G>T (p.Val1677Phe)
c.5023G>T (p.Val1675Phe)
c.5002G>T (p.Val1668Phe)
c.3913G>T (p.Val1305Phe)
c.5011G>T (p.Val1671Phe)
n.893G>T
11g.70473381C>GCA381676605SHANK2c.3271G>C (p.Val1091Leu)
c.816G>C (n.816G>C)
c.5038G>C (p.Val1680Leu)
c.2547G>C
c.3901G>C (p.Val1301Leu)
c.3328G>C (p.Val1110Leu)
c.3274G>C (p.Val1092Leu)
c.*42G>C (n.*42G>C)
c.3250G>C (p.Val1084Leu)
c.814G>C
c.2875G>C (p.Val959Leu)
n.1790G>C
n.892G>C
c.5008G>C (p.Val1670Leu)
c.5050G>C (p.Val1684Leu)
c.5029G>C (p.Val1677Leu)
c.5023G>C (p.Val1675Leu)
c.5002G>C (p.Val1668Leu)
c.3913G>C (p.Val1305Leu)
c.5011G>C (p.Val1671Leu)
n.893G>C
11g.70473381C>TCA381676602SHANK2c.3271G>A (p.Val1091Ile)
c.816G>A (n.816G>A)
c.5038G>A (p.Val1680Ile)
c.2547G>A
c.3901G>A (p.Val1301Ile)
c.3328G>A (p.Val1110Ile)
c.3274G>A (p.Val1092Ile)
c.*42G>A (n.*42G>A)
c.3250G>A (p.Val1084Ile)
c.814G>A
c.2875G>A (p.Val959Ile)
n.1790G>A
n.892G>A
c.5008G>A (p.Val1670Ile)
c.5050G>A (p.Val1684Ile)
c.5029G>A (p.Val1677Ile)
c.5023G>A (p.Val1675Ile)
c.5002G>A (p.Val1668Ile)
c.3913G>A (p.Val1305Ile)
c.5011G>A (p.Val1671Ile)
n.893G>A
11g.70473382A=CA1981068034SHANK2c.3270T= (p.Thr1090=)
c.815T= (n.815T=)
c.5037T= (p.Thr1679=)
c.2546T=
c.3900T= (p.Thr1300=)
c.3327T= (p.Thr1109=)
c.3273T= (p.Thr1091=)
c.*41T= (n.*41T=)
c.3249T= (p.Thr1083=)
c.813T=
c.2874T= (p.Thr958=)
n.1789T=
n.891T=
c.5007T= (p.Thr1669=)
c.5049T= (p.Thr1683=)
c.5028T= (p.Thr1676=)
c.5022T= (p.Thr1674=)
c.5001T= (p.Thr1667=)
c.3912T= (p.Thr1304=)
c.5010T= (p.Thr1670=)
n.892T=
11g.70473382A>CCA475470803SHANK2c.3270T>G (p.Thr1090=)
c.815T>G (n.815T>G)
c.5037T>G (p.Thr1679=)
c.2546T>G
c.3900T>G (p.Thr1300=)
c.3327T>G (p.Thr1109=)
c.3273T>G (p.Thr1091=)
c.*41T>G (n.*41T>G)
c.3249T>G (p.Thr1083=)
c.813T>G
c.2874T>G (p.Thr958=)
n.1789T>G
n.891T>G
c.5007T>G (p.Thr1669=)
c.5049T>G (p.Thr1683=)
c.5028T>G (p.Thr1676=)
c.5022T>G (p.Thr1674=)
c.5001T>G (p.Thr1667=)
c.3912T>G (p.Thr1304=)
c.5010T>G (p.Thr1670=)
n.892T>G
 dbSNP
11g.70473382A>GCA475470805SHANK2c.3270T>C (p.Thr1090=)
c.815T>C (n.815T>C)
c.5037T>C (p.Thr1679=)
c.2546T>C
c.3900T>C (p.Thr1300=)
c.3327T>C (p.Thr1109=)
c.3273T>C (p.Thr1091=)
c.*41T>C (n.*41T>C)
c.3249T>C (p.Thr1083=)
c.813T>C
c.2874T>C (p.Thr958=)
n.1789T>C
n.891T>C
c.5007T>C (p.Thr1669=)
c.5049T>C (p.Thr1683=)
c.5028T>C (p.Thr1676=)
c.5022T>C (p.Thr1674=)
c.5001T>C (p.Thr1667=)
c.3912T>C (p.Thr1304=)
c.5010T>C (p.Thr1670=)
n.892T>C
11g.70473382A>TCA475470804SHANK2c.3270T>A (p.Thr1090=)
c.815T>A (n.815T>A)
c.5037T>A (p.Thr1679=)
c.2546T>A
c.3900T>A (p.Thr1300=)
c.3327T>A (p.Thr1109=)
c.3273T>A (p.Thr1091=)
c.*41T>A (n.*41T>A)
c.3249T>A (p.Thr1083=)
c.813T>A
c.2874T>A (p.Thr958=)
n.1789T>A
n.891T>A
c.5007T>A (p.Thr1669=)
c.5049T>A (p.Thr1683=)
c.5028T>A (p.Thr1676=)
c.5022T>A (p.Thr1674=)
c.5001T>A (p.Thr1667=)
c.3912T>A (p.Thr1304=)
c.5010T>A (p.Thr1670=)
n.892T>A
11g.70473383G>ACA381676612SHANK2c.3269C>T (p.Thr1090Ile)
c.814C>T (n.814C>T)
c.5036C>T (p.Thr1679Ile)
c.2545C>T
c.3899C>T (p.Thr1300Ile)
c.3326C>T (p.Thr1109Ile)
c.3272C>T (p.Thr1091Ile)
c.*40C>T (n.*40C>T)
c.3248C>T (p.Thr1083Ile)
c.812C>T
c.2873C>T (p.Thr958Ile)
n.1788C>T
n.890C>T
c.5006C>T (p.Thr1669Ile)
c.5048C>T (p.Thr1683Ile)
c.5027C>T (p.Thr1676Ile)
c.5021C>T (p.Thr1674Ile)
c.5000C>T (p.Thr1667Ile)
c.3911C>T (p.Thr1304Ile)
c.5009C>T (p.Thr1670Ile)
n.891C>T
11g.70473383G>CCA381676609SHANK2c.3269C>G (p.Thr1090Ser)
c.814C>G (n.814C>G)
c.5036C>G (p.Thr1679Ser)
c.2545C>G
c.3899C>G (p.Thr1300Ser)
c.3326C>G (p.Thr1109Ser)
c.3272C>G (p.Thr1091Ser)
c.*40C>G (n.*40C>G)
c.3248C>G (p.Thr1083Ser)
c.812C>G
c.2873C>G (p.Thr958Ser)
n.1788C>G
n.890C>G
c.5006C>G (p.Thr1669Ser)
c.5048C>G (p.Thr1683Ser)
c.5027C>G (p.Thr1676Ser)
c.5021C>G (p.Thr1674Ser)
c.5000C>G (p.Thr1667Ser)
c.3911C>G (p.Thr1304Ser)
c.5009C>G (p.Thr1670Ser)
n.891C>G
 dbSNP
11g.70473383G=CA1981068035SHANK2c.3269C= (p.Thr1090=)
c.814C= (n.814C=)
c.5036C= (p.Thr1679=)
c.2545C=
c.3899C= (p.Thr1300=)
c.3326C= (p.Thr1109=)
c.3272C= (p.Thr1091=)
c.*40C= (n.*40C=)
c.3248C= (p.Thr1083=)
c.812C=
c.2873C= (p.Thr958=)
n.1788C=
n.890C=
c.5006C= (p.Thr1669=)
c.5048C= (p.Thr1683=)
c.5027C= (p.Thr1676=)
c.5021C= (p.Thr1674=)
c.5000C= (p.Thr1667=)
c.3911C= (p.Thr1304=)
c.5009C= (p.Thr1670=)
n.891C=
11g.70473383G>TCA381676611SHANK2c.3269C>A (p.Thr1090Asn)
c.814C>A (n.814C>A)
c.5036C>A (p.Thr1679Asn)
c.2545C>A
c.3899C>A (p.Thr1300Asn)
c.3326C>A (p.Thr1109Asn)
c.3272C>A (p.Thr1091Asn)
c.*40C>A (n.*40C>A)
c.3248C>A (p.Thr1083Asn)
c.812C>A
c.2873C>A (p.Thr958Asn)
n.1788C>A
n.890C>A
c.5006C>A (p.Thr1669Asn)
c.5048C>A (p.Thr1683Asn)
c.5027C>A (p.Thr1676Asn)
c.5021C>A (p.Thr1674Asn)
c.5000C>A (p.Thr1667Asn)
c.3911C>A (p.Thr1304Asn)
c.5009C>A (p.Thr1670Asn)
n.891C>A
 gnomAD v4
11g.70473384T>ACA381676615SHANK2c.3268A>T (p.Thr1090Ser)
c.813A>T (n.813A>T)
c.5035A>T (p.Thr1679Ser)
c.2544A>T
c.3898A>T (p.Thr1300Ser)
c.3325A>T (p.Thr1109Ser)
c.3271A>T (p.Thr1091Ser)
c.*39A>T (n.*39A>T)
c.3247A>T (p.Thr1083Ser)
c.811A>T
c.2872A>T (p.Thr958Ser)
n.1787A>T
n.889A>T
c.5005A>T (p.Thr1669Ser)
c.5047A>T (p.Thr1683Ser)
c.5026A>T (p.Thr1676Ser)
c.5020A>T (p.Thr1674Ser)
c.4999A>T (p.Thr1667Ser)
c.3910A>T (p.Thr1304Ser)
c.5008A>T (p.Thr1670Ser)
n.890A>T
11g.70473384T>CCA381676619SHANK2c.3268A>G (p.Thr1090Ala)
c.813A>G (n.813A>G)
c.5035A>G (p.Thr1679Ala)
c.2544A>G
c.3898A>G (p.Thr1300Ala)
c.3325A>G (p.Thr1109Ala)
c.3271A>G (p.Thr1091Ala)
c.*39A>G (n.*39A>G)
c.3247A>G (p.Thr1083Ala)
c.811A>G
c.2872A>G (p.Thr958Ala)
n.1787A>G
n.889A>G
c.5005A>G (p.Thr1669Ala)
c.5047A>G (p.Thr1683Ala)
c.5026A>G (p.Thr1676Ala)
c.5020A>G (p.Thr1674Ala)
c.4999A>G (p.Thr1667Ala)
c.3910A>G (p.Thr1304Ala)
c.5008A>G (p.Thr1670Ala)
n.890A>G
11g.70473384T>GCA381676621SHANK2c.3268A>C (p.Thr1090Pro)
c.813A>C (n.813A>C)
c.5035A>C (p.Thr1679Pro)
c.2544A>C
c.3898A>C (p.Thr1300Pro)
c.3325A>C (p.Thr1109Pro)
c.3271A>C (p.Thr1091Pro)
c.*39A>C (n.*39A>C)
c.3247A>C (p.Thr1083Pro)
c.811A>C
c.2872A>C (p.Thr958Pro)
n.1787A>C
n.889A>C
c.5005A>C (p.Thr1669Pro)
c.5047A>C (p.Thr1683Pro)
c.5026A>C (p.Thr1676Pro)
c.5020A>C (p.Thr1674Pro)
c.4999A>C (p.Thr1667Pro)
c.3910A>C (p.Thr1304Pro)
c.5008A>C (p.Thr1670Pro)
n.890A>C
11g.70473385G>ACA475470809SHANK2c.3267C>T (p.Phe1089=)
c.812C>T (n.812C>T)
c.5034C>T (p.Phe1678=)
c.2543C>T
c.3897C>T (p.Phe1299=)
c.3324C>T (p.Phe1108=)
c.3270C>T (p.Phe1090=)
c.*38C>T (n.*38C>T)
c.3246C>T (p.Phe1082=)
c.810C>T
c.2871C>T (p.Phe957=)
n.1786C>T
n.888C>T
c.5004C>T (p.Phe1668=)
c.5046C>T (p.Phe1682=)
c.5025C>T (p.Phe1675=)
c.5019C>T (p.Phe1673=)
c.4998C>T (p.Phe1666=)
c.3909C>T (p.Phe1303=)
c.5007C>T (p.Phe1669=)
n.889C>T
11g.70473385G>CCA381676624SHANK2c.3267C>G (p.Phe1089Leu)
c.812C>G (n.812C>G)
c.5034C>G (p.Phe1678Leu)
c.2543C>G
c.3897C>G (p.Phe1299Leu)
c.3324C>G (p.Phe1108Leu)
c.3270C>G (p.Phe1090Leu)
c.*38C>G (n.*38C>G)
c.3246C>G (p.Phe1082Leu)
c.810C>G
c.2871C>G (p.Phe957Leu)
n.1786C>G
n.888C>G
c.5004C>G (p.Phe1668Leu)
c.5046C>G (p.Phe1682Leu)
c.5025C>G (p.Phe1675Leu)
c.5019C>G (p.Phe1673Leu)
c.4998C>G (p.Phe1666Leu)
c.3909C>G (p.Phe1303Leu)
c.5007C>G (p.Phe1669Leu)
n.889C>G
11g.70473385G>TCA381676627SHANK2c.3267C>A (p.Phe1089Leu)
c.812C>A (n.812C>A)
c.5034C>A (p.Phe1678Leu)
c.2543C>A
c.3897C>A (p.Phe1299Leu)
c.3324C>A (p.Phe1108Leu)
c.3270C>A (p.Phe1090Leu)
c.*38C>A (n.*38C>A)
c.3246C>A (p.Phe1082Leu)
c.810C>A
c.2871C>A (p.Phe957Leu)
n.1786C>A
n.888C>A
c.5004C>A (p.Phe1668Leu)
c.5046C>A (p.Phe1682Leu)
c.5025C>A (p.Phe1675Leu)
c.5019C>A (p.Phe1673Leu)
c.4998C>A (p.Phe1666Leu)
c.3909C>A (p.Phe1303Leu)
c.5007C>A (p.Phe1669Leu)
n.889C>A
 gnomAD v4
11g.70473386A=CA1981068036SHANK2c.3266T= (p.Phe1089=)
c.811T= (n.811T=)
c.5033T= (p.Phe1678=)
c.2542T=
c.3896T= (p.Phe1299=)
c.3323T= (p.Phe1108=)
c.3269T= (p.Phe1090=)
c.*37T= (n.*37T=)
c.3245T= (p.Phe1082=)
c.809T=
c.2870T= (p.Phe957=)
n.1785T=
n.887T=
c.5003T= (p.Phe1668=)
c.5045T= (p.Phe1682=)
c.5024T= (p.Phe1675=)
c.5018T= (p.Phe1673=)
c.4997T= (p.Phe1666=)
c.3908T= (p.Phe1303=)
c.5006T= (p.Phe1669=)
n.888T=
11g.70473386A>CCA381676633SHANK2c.3266T>G (p.Phe1089Cys)
c.811T>G (n.811T>G)
c.5033T>G (p.Phe1678Cys)
c.2542T>G
c.3896T>G (p.Phe1299Cys)
c.3323T>G (p.Phe1108Cys)
c.3269T>G (p.Phe1090Cys)
c.*37T>G (n.*37T>G)
c.3245T>G (p.Phe1082Cys)
c.809T>G
c.2870T>G (p.Phe957Cys)
n.1785T>G
n.887T>G
c.5003T>G (p.Phe1668Cys)
c.5045T>G (p.Phe1682Cys)
c.5024T>G (p.Phe1675Cys)
c.5018T>G (p.Phe1673Cys)
c.4997T>G (p.Phe1666Cys)
c.3908T>G (p.Phe1303Cys)
c.5006T>G (p.Phe1669Cys)
n.888T>G
11g.70473386A>GCA381676634SHANK2c.3266T>C (p.Phe1089Ser)
c.811T>C (n.811T>C)
c.5033T>C (p.Phe1678Ser)
c.2542T>C
c.3896T>C (p.Phe1299Ser)
c.3323T>C (p.Phe1108Ser)
c.3269T>C (p.Phe1090Ser)
c.*37T>C (n.*37T>C)
c.3245T>C (p.Phe1082Ser)
c.809T>C
c.2870T>C (p.Phe957Ser)
n.1785T>C
n.887T>C
c.5003T>C (p.Phe1668Ser)
c.5045T>C (p.Phe1682Ser)
c.5024T>C (p.Phe1675Ser)
c.5018T>C (p.Phe1673Ser)
c.4997T>C (p.Phe1666Ser)
c.3908T>C (p.Phe1303Ser)
c.5006T>C (p.Phe1669Ser)
n.888T>C
11g.70473386A>TCA381676637SHANK2c.3266T>A (p.Phe1089Tyr)
c.811T>A (n.811T>A)
c.5033T>A (p.Phe1678Tyr)
c.2542T>A
c.3896T>A (p.Phe1299Tyr)
c.3323T>A (p.Phe1108Tyr)
c.3269T>A (p.Phe1090Tyr)
c.*37T>A (n.*37T>A)
c.3245T>A (p.Phe1082Tyr)
c.809T>A
c.2870T>A (p.Phe957Tyr)
n.1785T>A
n.887T>A
c.5003T>A (p.Phe1668Tyr)
c.5045T>A (p.Phe1682Tyr)
c.5024T>A (p.Phe1675Tyr)
c.5018T>A (p.Phe1673Tyr)
c.4997T>A (p.Phe1666Tyr)
c.3908T>A (p.Phe1303Tyr)
c.5006T>A (p.Phe1669Tyr)
n.888T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473387A=CA1981068037SHANK2c.3265T= (p.Phe1089=)
c.810T= (n.810T=)
c.5032T= (p.Phe1678=)
c.2541T=
c.3895T= (p.Phe1299=)
c.3322T= (p.Phe1108=)
c.3268T= (p.Phe1090=)
c.*36T= (n.*36T=)
c.3244T= (p.Phe1082=)
c.808T=
c.2869T= (p.Phe957=)
n.1784T=
n.886T=
c.5002T= (p.Phe1668=)
c.5044T= (p.Phe1682=)
c.5023T= (p.Phe1675=)
c.5017T= (p.Phe1673=)
c.4996T= (p.Phe1666=)
c.3907T= (p.Phe1303=)
c.5005T= (p.Phe1669=)
n.887T=
11g.70473387A>CCA381676639SHANK2c.3265T>G (p.Phe1089Val)
c.810T>G (n.810T>G)
c.5032T>G (p.Phe1678Val)
c.2541T>G
c.3895T>G (p.Phe1299Val)
c.3322T>G (p.Phe1108Val)
c.3268T>G (p.Phe1090Val)
c.*36T>G (n.*36T>G)
c.3244T>G (p.Phe1082Val)
c.808T>G
c.2869T>G (p.Phe957Val)
n.1784T>G
n.886T>G
c.5002T>G (p.Phe1668Val)
c.5044T>G (p.Phe1682Val)
c.5023T>G (p.Phe1675Val)
c.5017T>G (p.Phe1673Val)
c.4996T>G (p.Phe1666Val)
c.3907T>G (p.Phe1303Val)
c.5005T>G (p.Phe1669Val)
n.887T>G
11g.70473387A>GCA6160784SHANK2c.3265T>C (p.Phe1089Leu)
c.810T>C (n.810T>C)
c.5032T>C (p.Phe1678Leu)
c.2541T>C
c.3895T>C (p.Phe1299Leu)
c.3322T>C (p.Phe1108Leu)
c.3268T>C (p.Phe1090Leu)
c.*36T>C (n.*36T>C)
c.3244T>C (p.Phe1082Leu)
c.808T>C
c.2869T>C (p.Phe957Leu)
n.1784T>C
n.886T>C
c.5002T>C (p.Phe1668Leu)
c.5044T>C (p.Phe1682Leu)
c.5023T>C (p.Phe1675Leu)
c.5017T>C (p.Phe1673Leu)
c.4996T>C (p.Phe1666Leu)
c.3907T>C (p.Phe1303Leu)
c.5005T>C (p.Phe1669Leu)
n.887T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473387A>TCA381676643SHANK2c.3265T>A (p.Phe1089Ile)
c.810T>A (n.810T>A)
c.5032T>A (p.Phe1678Ile)
c.2541T>A
c.3895T>A (p.Phe1299Ile)
c.3322T>A (p.Phe1108Ile)
c.3268T>A (p.Phe1090Ile)
c.*36T>A (n.*36T>A)
c.3244T>A (p.Phe1082Ile)
c.808T>A
c.2869T>A (p.Phe957Ile)
n.1784T>A
n.886T>A
c.5002T>A (p.Phe1668Ile)
c.5044T>A (p.Phe1682Ile)
c.5023T>A (p.Phe1675Ile)
c.5017T>A (p.Phe1673Ile)
c.4996T>A (p.Phe1666Ile)
c.3907T>A (p.Phe1303Ile)
c.5005T>A (p.Phe1669Ile)
n.887T>A
11g.70473388G>ACA475470812SHANK2c.3264C>T (p.Thr1088=)
c.809C>T (n.809C>T)
c.5031C>T (p.Thr1677=)
c.2540C>T
c.3894C>T (p.Thr1298=)
c.3321C>T (p.Thr1107=)
c.3267C>T (p.Thr1089=)
c.*35C>T (n.*35C>T)
c.3243C>T (p.Thr1081=)
c.807C>T
c.2868C>T (p.Thr956=)
n.1783C>T
n.885C>T
c.5001C>T (p.Thr1667=)
c.5043C>T (p.Thr1681=)
c.5022C>T (p.Thr1674=)
c.5016C>T (p.Thr1672=)
c.4995C>T (p.Thr1665=)
c.3906C>T (p.Thr1302=)
c.5004C>T (p.Thr1668=)
n.886C>T
 dbSNP
11g.70473388G>CCA475470813SHANK2c.3264C>G (p.Thr1088=)
c.809C>G (n.809C>G)
c.5031C>G (p.Thr1677=)
c.2540C>G
c.3894C>G (p.Thr1298=)
c.3321C>G (p.Thr1107=)
c.3267C>G (p.Thr1089=)
c.*35C>G (n.*35C>G)
c.3243C>G (p.Thr1081=)
c.807C>G
c.2868C>G (p.Thr956=)
n.1783C>G
n.885C>G
c.5001C>G (p.Thr1667=)
c.5043C>G (p.Thr1681=)
c.5022C>G (p.Thr1674=)
c.5016C>G (p.Thr1672=)
c.4995C>G (p.Thr1665=)
c.3906C>G (p.Thr1302=)
c.5004C>G (p.Thr1668=)
n.886C>G
11g.70473388G=CA1981068038SHANK2c.3264C= (p.Thr1088=)
c.809C= (n.809C=)
c.5031C= (p.Thr1677=)
c.2540C=
c.3894C= (p.Thr1298=)
c.3321C= (p.Thr1107=)
c.3267C= (p.Thr1089=)
c.*35C= (n.*35C=)
c.3243C= (p.Thr1081=)
c.807C=
c.2868C= (p.Thr956=)
n.1783C=
n.885C=
c.5001C= (p.Thr1667=)
c.5043C= (p.Thr1681=)
c.5022C= (p.Thr1674=)
c.5016C= (p.Thr1672=)
c.4995C= (p.Thr1665=)
c.3906C= (p.Thr1302=)
c.5004C= (p.Thr1668=)
n.886C=
11g.70473388G>TCA475470814SHANK2c.3264C>A (p.Thr1088=)
c.809C>A (n.809C>A)
c.5031C>A (p.Thr1677=)
c.2540C>A
c.3894C>A (p.Thr1298=)
c.3321C>A (p.Thr1107=)
c.3267C>A (p.Thr1089=)
c.*35C>A (n.*35C>A)
c.3243C>A (p.Thr1081=)
c.807C>A
c.2868C>A (p.Thr956=)
n.1783C>A
n.885C>A
c.5001C>A (p.Thr1667=)
c.5043C>A (p.Thr1681=)
c.5022C>A (p.Thr1674=)
c.5016C>A (p.Thr1672=)
c.4995C>A (p.Thr1665=)
c.3906C>A (p.Thr1302=)
c.5004C>A (p.Thr1668=)
n.886C>A
 gnomAD v4
11g.70473389G>ACA381676650SHANK2c.3263C>T (p.Thr1088Ile)
c.808C>T (n.808C>T)
c.5030C>T (p.Thr1677Ile)
c.2539C>T
c.3893C>T (p.Thr1298Ile)
c.3320C>T (p.Thr1107Ile)
c.3266C>T (p.Thr1089Ile)
c.*34C>T (n.*34C>T)
c.3242C>T (p.Thr1081Ile)
c.806C>T
c.2867C>T (p.Thr956Ile)
n.1782C>T
n.884C>T
c.5000C>T (p.Thr1667Ile)
c.5042C>T (p.Thr1681Ile)
c.5021C>T (p.Thr1674Ile)
c.5015C>T (p.Thr1672Ile)
c.4994C>T (p.Thr1665Ile)
c.3905C>T (p.Thr1302Ile)
c.5003C>T (p.Thr1668Ile)
n.885C>T
11g.70473389G>CCA381676646SHANK2c.3263C>G (p.Thr1088Ser)
c.808C>G (n.808C>G)
c.5030C>G (p.Thr1677Ser)
c.2539C>G
c.3893C>G (p.Thr1298Ser)
c.3320C>G (p.Thr1107Ser)
c.3266C>G (p.Thr1089Ser)
c.*34C>G (n.*34C>G)
c.3242C>G (p.Thr1081Ser)
c.806C>G
c.2867C>G (p.Thr956Ser)
n.1782C>G
n.884C>G
c.5000C>G (p.Thr1667Ser)
c.5042C>G (p.Thr1681Ser)
c.5021C>G (p.Thr1674Ser)
c.5015C>G (p.Thr1672Ser)
c.4994C>G (p.Thr1665Ser)
c.3905C>G (p.Thr1302Ser)
c.5003C>G (p.Thr1668Ser)
n.885C>G
11g.70473389G>TCA381676648SHANK2c.3263C>A (p.Thr1088Asn)
c.808C>A (n.808C>A)
c.5030C>A (p.Thr1677Asn)
c.2539C>A
c.3893C>A (p.Thr1298Asn)
c.3320C>A (p.Thr1107Asn)
c.3266C>A (p.Thr1089Asn)
c.*34C>A (n.*34C>A)
c.3242C>A (p.Thr1081Asn)
c.806C>A
c.2867C>A (p.Thr956Asn)
n.1782C>A
n.884C>A
c.5000C>A (p.Thr1667Asn)
c.5042C>A (p.Thr1681Asn)
c.5021C>A (p.Thr1674Asn)
c.5015C>A (p.Thr1672Asn)
c.4994C>A (p.Thr1665Asn)
c.3905C>A (p.Thr1302Asn)
c.5003C>A (p.Thr1668Asn)
n.885C>A
11g.70473390T>ACA381676654SHANK2c.3262A>T (p.Thr1088Ser)
c.807A>T (n.807A>T)
c.5029A>T (p.Thr1677Ser)
c.2538A>T
c.3892A>T (p.Thr1298Ser)
c.3319A>T (p.Thr1107Ser)
c.3265A>T (p.Thr1089Ser)
c.*33A>T (n.*33A>T)
c.3241A>T (p.Thr1081Ser)
c.805A>T
c.2866A>T (p.Thr956Ser)
n.1781A>T
n.883A>T
c.4999A>T (p.Thr1667Ser)
c.5041A>T (p.Thr1681Ser)
c.5020A>T (p.Thr1674Ser)
c.5014A>T (p.Thr1672Ser)
c.4993A>T (p.Thr1665Ser)
c.3904A>T (p.Thr1302Ser)
c.5002A>T (p.Thr1668Ser)
n.884A>T
11g.70473390T>CCA381676656SHANK2c.3262A>G (p.Thr1088Ala)
c.807A>G (n.807A>G)
c.5029A>G (p.Thr1677Ala)
c.2538A>G
c.3892A>G (p.Thr1298Ala)
c.3319A>G (p.Thr1107Ala)
c.3265A>G (p.Thr1089Ala)
c.*33A>G (n.*33A>G)
c.3241A>G (p.Thr1081Ala)
c.805A>G
c.2866A>G (p.Thr956Ala)
n.1781A>G
n.883A>G
c.4999A>G (p.Thr1667Ala)
c.5041A>G (p.Thr1681Ala)
c.5020A>G (p.Thr1674Ala)
c.5014A>G (p.Thr1672Ala)
c.4993A>G (p.Thr1665Ala)
c.3904A>G (p.Thr1302Ala)
c.5002A>G (p.Thr1668Ala)
n.884A>G
11g.70473390T>GCA381676659SHANK2c.3262A>C (p.Thr1088Pro)
c.807A>C (n.807A>C)
c.5029A>C (p.Thr1677Pro)
c.2538A>C
c.3892A>C (p.Thr1298Pro)
c.3319A>C (p.Thr1107Pro)
c.3265A>C (p.Thr1089Pro)
c.*33A>C (n.*33A>C)
c.3241A>C (p.Thr1081Pro)
c.805A>C
c.2866A>C (p.Thr956Pro)
n.1781A>C
n.883A>C
c.4999A>C (p.Thr1667Pro)
c.5041A>C (p.Thr1681Pro)
c.5020A>C (p.Thr1674Pro)
c.5014A>C (p.Thr1672Pro)
c.4993A>C (p.Thr1665Pro)
c.3904A>C (p.Thr1302Pro)
c.5002A>C (p.Thr1668Pro)
n.884A>C
11g.70473391G>ACA475470820SHANK2c.3261C>T (p.Val1087=)
c.806C>T (n.806C>T)
c.5028C>T (p.Val1676=)
c.2537C>T
c.3891C>T (p.Val1297=)
c.3318C>T (p.Val1106=)
c.3264C>T (p.Val1088=)
c.*32C>T (n.*32C>T)
c.3240C>T (p.Val1080=)
c.804C>T
c.2865C>T (p.Val955=)
n.1780C>T
n.882C>T
c.4998C>T (p.Val1666=)
c.5040C>T (p.Val1680=)
c.5019C>T (p.Val1673=)
c.5013C>T (p.Val1671=)
c.4992C>T (p.Val1664=)
c.3903C>T (p.Val1301=)
c.5001C>T (p.Val1667=)
n.883C>T
 gnomAD v4
11g.70473391G>CCA475470816SHANK2c.3261C>G (p.Val1087=)
c.806C>G (n.806C>G)
c.5028C>G (p.Val1676=)
c.2537C>G
c.3891C>G (p.Val1297=)
c.3318C>G (p.Val1106=)
c.3264C>G (p.Val1088=)
c.*32C>G (n.*32C>G)
c.3240C>G (p.Val1080=)
c.804C>G
c.2865C>G (p.Val955=)
n.1780C>G
n.882C>G
c.4998C>G (p.Val1666=)
c.5040C>G (p.Val1680=)
c.5019C>G (p.Val1673=)
c.5013C>G (p.Val1671=)
c.4992C>G (p.Val1664=)
c.3903C>G (p.Val1301=)
c.5001C>G (p.Val1667=)
n.883C>G
11g.70473391G>TCA475470818SHANK2c.3261C>A (p.Val1087=)
c.806C>A (n.806C>A)
c.5028C>A (p.Val1676=)
c.2537C>A
c.3891C>A (p.Val1297=)
c.3318C>A (p.Val1106=)
c.3264C>A (p.Val1088=)
c.*32C>A (n.*32C>A)
c.3240C>A (p.Val1080=)
c.804C>A
c.2865C>A (p.Val955=)
n.1780C>A
n.882C>A
c.4998C>A (p.Val1666=)
c.5040C>A (p.Val1680=)
c.5019C>A (p.Val1673=)
c.5013C>A (p.Val1671=)
c.4992C>A (p.Val1664=)
c.3903C>A (p.Val1301=)
c.5001C>A (p.Val1667=)
n.883C>A
 gnomAD v4
11g.70473392A>CCA381676663SHANK2c.3260T>G (p.Val1087Gly)
c.805T>G (n.805T>G)
c.5027T>G (p.Val1676Gly)
c.2536T>G
c.3890T>G (p.Val1297Gly)
c.3317T>G (p.Val1106Gly)
c.3263T>G (p.Val1088Gly)
c.*31T>G (n.*31T>G)
c.3239T>G (p.Val1080Gly)
c.803T>G
c.2864T>G (p.Val955Gly)
n.1779T>G
n.881T>G
c.4997T>G (p.Val1666Gly)
c.5039T>G (p.Val1680Gly)
c.5018T>G (p.Val1673Gly)
c.5012T>G (p.Val1671Gly)
c.4991T>G (p.Val1664Gly)
c.3902T>G (p.Val1301Gly)
c.5000T>G (p.Val1667Gly)
n.882T>G
11g.70473392A>GCA381676669SHANK2c.3260T>C (p.Val1087Ala)
c.805T>C (n.805T>C)
c.5027T>C (p.Val1676Ala)
c.2536T>C
c.3890T>C (p.Val1297Ala)
c.3317T>C (p.Val1106Ala)
c.3263T>C (p.Val1088Ala)
c.*31T>C (n.*31T>C)
c.3239T>C (p.Val1080Ala)
c.803T>C
c.2864T>C (p.Val955Ala)
n.1779T>C
n.881T>C
c.4997T>C (p.Val1666Ala)
c.5039T>C (p.Val1680Ala)
c.5018T>C (p.Val1673Ala)
c.5012T>C (p.Val1671Ala)
c.4991T>C (p.Val1664Ala)
c.3902T>C (p.Val1301Ala)
c.5000T>C (p.Val1667Ala)
n.882T>C
11g.70473392A>TCA381676678SHANK2c.3260T>A (p.Val1087Asp)
c.805T>A (n.805T>A)
c.5027T>A (p.Val1676Asp)
c.2536T>A
c.3890T>A (p.Val1297Asp)
c.3317T>A (p.Val1106Asp)
c.3263T>A (p.Val1088Asp)
c.*31T>A (n.*31T>A)
c.3239T>A (p.Val1080Asp)
c.803T>A
c.2864T>A (p.Val955Asp)
n.1779T>A
n.881T>A
c.4997T>A (p.Val1666Asp)
c.5039T>A (p.Val1680Asp)
c.5018T>A (p.Val1673Asp)
c.5012T>A (p.Val1671Asp)
c.4991T>A (p.Val1664Asp)
c.3902T>A (p.Val1301Asp)
c.5000T>A (p.Val1667Asp)
n.882T>A
11g.70473393C>ACA381676680SHANK2c.3259G>T (p.Val1087Phe)
c.804G>T (n.804G>T)
c.5026G>T (p.Val1676Phe)
c.2535G>T
c.3889G>T (p.Val1297Phe)
c.3316G>T (p.Val1106Phe)
c.3262G>T (p.Val1088Phe)
c.*30G>T (n.*30G>T)
c.3238G>T (p.Val1080Phe)
c.802G>T
c.2863G>T (p.Val955Phe)
n.1778G>T
n.880G>T
c.4996G>T (p.Val1666Phe)
c.5038G>T (p.Val1680Phe)
c.5017G>T (p.Val1673Phe)
c.5011G>T (p.Val1671Phe)
c.4990G>T (p.Val1664Phe)
c.3901G>T (p.Val1301Phe)
c.4999G>T (p.Val1667Phe)
n.881G>T
11g.70473393C>GCA381676683SHANK2c.3259G>C (p.Val1087Leu)
c.804G>C (n.804G>C)
c.5026G>C (p.Val1676Leu)
c.2535G>C
c.3889G>C (p.Val1297Leu)
c.3316G>C (p.Val1106Leu)
c.3262G>C (p.Val1088Leu)
c.*30G>C (n.*30G>C)
c.3238G>C (p.Val1080Leu)
c.802G>C
c.2863G>C (p.Val955Leu)
n.1778G>C
n.880G>C
c.4996G>C (p.Val1666Leu)
c.5038G>C (p.Val1680Leu)
c.5017G>C (p.Val1673Leu)
c.5011G>C (p.Val1671Leu)
c.4990G>C (p.Val1664Leu)
c.3901G>C (p.Val1301Leu)
c.4999G>C (p.Val1667Leu)
n.881G>C
11g.70473393C>TCA381676686SHANK2c.3259G>A (p.Val1087Ile)
c.804G>A (n.804G>A)
c.5026G>A (p.Val1676Ile)
c.2535G>A
c.3889G>A (p.Val1297Ile)
c.3316G>A (p.Val1106Ile)
c.3262G>A (p.Val1088Ile)
c.*30G>A (n.*30G>A)
c.3238G>A (p.Val1080Ile)
c.802G>A
c.2863G>A (p.Val955Ile)
n.1778G>A
n.880G>A
c.4996G>A (p.Val1666Ile)
c.5038G>A (p.Val1680Ile)
c.5017G>A (p.Val1673Ile)
c.5011G>A (p.Val1671Ile)
c.4990G>A (p.Val1664Ile)
c.3901G>A (p.Val1301Ile)
c.4999G>A (p.Val1667Ile)
n.881G>A
 gnomAD v4
11g.70473394C>ACA475470822SHANK2c.3258G>T (p.Thr1086=)
c.803G>T (n.803G>T)
c.5025G>T (p.Thr1675=)
c.2534G>T
c.3888G>T (p.Thr1296=)
c.3315G>T (p.Thr1105=)
c.3261G>T (p.Thr1087=)
c.*29G>T (n.*29G>T)
c.3237G>T (p.Thr1079=)
c.801G>T
c.2862G>T (p.Thr954=)
n.1777G>T
n.879G>T
c.4995G>T (p.Thr1665=)
c.5037G>T (p.Thr1679=)
c.5016G>T (p.Thr1672=)
c.5010G>T (p.Thr1670=)
c.4989G>T (p.Thr1663=)
c.3900G>T (p.Thr1300=)
c.4998G>T (p.Thr1666=)
n.880G>T
11g.70473394C=CA1981068039SHANK2c.3258G= (p.Thr1086=)
c.803G= (n.803G=)
c.5025G= (p.Thr1675=)
c.2534G=
c.3888G= (p.Thr1296=)
c.3315G= (p.Thr1105=)
c.3261G= (p.Thr1087=)
c.*29G= (n.*29G=)
c.3237G= (p.Thr1079=)
c.801G=
c.2862G= (p.Thr954=)
n.1777G=
n.879G=
c.4995G= (p.Thr1665=)
c.5037G= (p.Thr1679=)
c.5016G= (p.Thr1672=)
c.5010G= (p.Thr1670=)
c.4989G= (p.Thr1663=)
c.3900G= (p.Thr1300=)
c.4998G= (p.Thr1666=)
n.880G=
11g.70473394C>GCA475470824SHANK2c.3258G>C (p.Thr1086=)
c.803G>C (n.803G>C)
c.5025G>C (p.Thr1675=)
c.2534G>C
c.3888G>C (p.Thr1296=)
c.3315G>C (p.Thr1105=)
c.3261G>C (p.Thr1087=)
c.*29G>C (n.*29G>C)
c.3237G>C (p.Thr1079=)
c.801G>C
c.2862G>C (p.Thr954=)
n.1777G>C
n.879G>C
c.4995G>C (p.Thr1665=)
c.5037G>C (p.Thr1679=)
c.5016G>C (p.Thr1672=)
c.5010G>C (p.Thr1670=)
c.4989G>C (p.Thr1663=)
c.3900G>C (p.Thr1300=)
c.4998G>C (p.Thr1666=)
n.880G>C
 dbSNP gnomAD v2 gnomAD v4
11g.70473394C>TCA6160785SHANK2c.3258G>A (p.Thr1086=)
c.803G>A (n.803G>A)
c.5025G>A (p.Thr1675=)
c.2534G>A
c.3888G>A (p.Thr1296=)
c.3315G>A (p.Thr1105=)
c.3261G>A (p.Thr1087=)
c.*29G>A (n.*29G>A)
c.3237G>A (p.Thr1079=)
c.801G>A
c.2862G>A (p.Thr954=)
n.1777G>A
n.879G>A
c.4995G>A (p.Thr1665=)
c.5037G>A (p.Thr1679=)
c.5016G>A (p.Thr1672=)
c.5010G>A (p.Thr1670=)
c.4989G>A (p.Thr1663=)
c.3900G>A (p.Thr1300=)
c.4998G>A (p.Thr1666=)
n.880G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473395G>ACA381676692SHANK2c.3257C>T (p.Thr1086Met)
c.802C>T (n.802C>T)
c.5024C>T (p.Thr1675Met)
c.2533C>T
c.3887C>T (p.Thr1296Met)
c.3314C>T (p.Thr1105Met)
c.3260C>T (p.Thr1087Met)
c.*28C>T (n.*28C>T)
c.3236C>T (p.Thr1079Met)
c.800C>T
c.2861C>T (p.Thr954Met)
n.1776C>T
n.878C>T
c.4994C>T (p.Thr1665Met)
c.5036C>T (p.Thr1679Met)
c.5015C>T (p.Thr1672Met)
c.5009C>T (p.Thr1670Met)
c.4988C>T (p.Thr1663Met)
c.3899C>T (p.Thr1300Met)
c.4997C>T (p.Thr1666Met)
n.879C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473395G>CCA381676695SHANK2c.3257C>G (p.Thr1086Arg)
c.802C>G (n.802C>G)
c.5024C>G (p.Thr1675Arg)
c.2533C>G
c.3887C>G (p.Thr1296Arg)
c.3314C>G (p.Thr1105Arg)
c.3260C>G (p.Thr1087Arg)
c.*28C>G (n.*28C>G)
c.3236C>G (p.Thr1079Arg)
c.800C>G
c.2861C>G (p.Thr954Arg)
n.1776C>G
n.878C>G
c.4994C>G (p.Thr1665Arg)
c.5036C>G (p.Thr1679Arg)
c.5015C>G (p.Thr1672Arg)
c.5009C>G (p.Thr1670Arg)
c.4988C>G (p.Thr1663Arg)
c.3899C>G (p.Thr1300Arg)
c.4997C>G (p.Thr1666Arg)
n.879C>G
11g.70473395G=CA1981068040SHANK2c.3257C= (p.Thr1086=)
c.802C= (n.802C=)
c.5024C= (p.Thr1675=)
c.2533C=
c.3887C= (p.Thr1296=)
c.3314C= (p.Thr1105=)
c.3260C= (p.Thr1087=)
c.*28C= (n.*28C=)
c.3236C= (p.Thr1079=)
c.800C=
c.2861C= (p.Thr954=)
n.1776C=
n.878C=
c.4994C= (p.Thr1665=)
c.5036C= (p.Thr1679=)
c.5015C= (p.Thr1672=)
c.5009C= (p.Thr1670=)
c.4988C= (p.Thr1663=)
c.3899C= (p.Thr1300=)
c.4997C= (p.Thr1666=)
n.879C=
11g.70473395G>TCA381676696SHANK2c.3257C>A (p.Thr1086Lys)
c.802C>A (n.802C>A)
c.5024C>A (p.Thr1675Lys)
c.2533C>A
c.3887C>A (p.Thr1296Lys)
c.3314C>A (p.Thr1105Lys)
c.3260C>A (p.Thr1087Lys)
c.*28C>A (n.*28C>A)
c.3236C>A (p.Thr1079Lys)
c.800C>A
c.2861C>A (p.Thr954Lys)
n.1776C>A
n.878C>A
c.4994C>A (p.Thr1665Lys)
c.5036C>A (p.Thr1679Lys)
c.5015C>A (p.Thr1672Lys)
c.5009C>A (p.Thr1670Lys)
c.4988C>A (p.Thr1663Lys)
c.3899C>A (p.Thr1300Lys)
c.4997C>A (p.Thr1666Lys)
n.879C>A
 gnomAD v4
11g.70473396T>ACA381676699SHANK2c.3256A>T (p.Thr1086Ser)
c.801A>T (n.801A>T)
c.5023A>T (p.Thr1675Ser)
c.2532A>T
c.3886A>T (p.Thr1296Ser)
c.3313A>T (p.Thr1105Ser)
c.3259A>T (p.Thr1087Ser)
c.*27A>T (n.*27A>T)
c.3235A>T (p.Thr1079Ser)
c.799A>T
c.2860A>T (p.Thr954Ser)
n.1775A>T
n.877A>T
c.4993A>T (p.Thr1665Ser)
c.5035A>T (p.Thr1679Ser)
c.5014A>T (p.Thr1672Ser)
c.5008A>T (p.Thr1670Ser)
c.4987A>T (p.Thr1663Ser)
c.3898A>T (p.Thr1300Ser)
c.4996A>T (p.Thr1666Ser)
n.878A>T
11g.70473396T>CCA381676702SHANK2c.3256A>G (p.Thr1086Ala)
c.801A>G (n.801A>G)
c.5023A>G (p.Thr1675Ala)
c.2532A>G
c.3886A>G (p.Thr1296Ala)
c.3313A>G (p.Thr1105Ala)
c.3259A>G (p.Thr1087Ala)
c.*27A>G (n.*27A>G)
c.3235A>G (p.Thr1079Ala)
c.799A>G
c.2860A>G (p.Thr954Ala)
n.1775A>G
n.877A>G
c.4993A>G (p.Thr1665Ala)
c.5035A>G (p.Thr1679Ala)
c.5014A>G (p.Thr1672Ala)
c.5008A>G (p.Thr1670Ala)
c.4987A>G (p.Thr1663Ala)
c.3898A>G (p.Thr1300Ala)
c.4996A>G (p.Thr1666Ala)
n.878A>G
11g.70473396T>GCA381676698SHANK2c.3256A>C (p.Thr1086Pro)
c.801A>C (n.801A>C)
c.5023A>C (p.Thr1675Pro)
c.2532A>C
c.3886A>C (p.Thr1296Pro)
c.3313A>C (p.Thr1105Pro)
c.3259A>C (p.Thr1087Pro)
c.*27A>C (n.*27A>C)
c.3235A>C (p.Thr1079Pro)
c.799A>C
c.2860A>C (p.Thr954Pro)
n.1775A>C
n.877A>C
c.4993A>C (p.Thr1665Pro)
c.5035A>C (p.Thr1679Pro)
c.5014A>C (p.Thr1672Pro)
c.5008A>C (p.Thr1670Pro)
c.4987A>C (p.Thr1663Pro)
c.3898A>C (p.Thr1300Pro)
c.4996A>C (p.Thr1666Pro)
n.878A>C
11g.70473397C>ACA475470827SHANK2c.3255G>T (p.Thr1085=)
c.800G>T (n.800G>T)
c.5022G>T (p.Thr1674=)
c.2531G>T
c.3885G>T (p.Thr1295=)
c.3312G>T (p.Thr1104=)
c.3258G>T (p.Thr1086=)
c.*26G>T (n.*26G>T)
c.3234G>T (p.Thr1078=)
c.798G>T
c.2859G>T (p.Thr953=)
n.1774G>T
n.876G>T
c.4992G>T (p.Thr1664=)
c.5034G>T (p.Thr1678=)
c.5013G>T (p.Thr1671=)
c.5007G>T (p.Thr1669=)
c.4986G>T (p.Thr1662=)
c.3897G>T (p.Thr1299=)
c.4995G>T (p.Thr1665=)
n.877G>T
11g.70473397C=CA1981068041SHANK2c.3255G= (p.Thr1085=)
c.800G= (n.800G=)
c.5022G= (p.Thr1674=)
c.2531G=
c.3885G= (p.Thr1295=)
c.3312G= (p.Thr1104=)
c.3258G= (p.Thr1086=)
c.*26G= (n.*26G=)
c.3234G= (p.Thr1078=)
c.798G=
c.2859G= (p.Thr953=)
n.1774G=
n.876G=
c.4992G= (p.Thr1664=)
c.5034G= (p.Thr1678=)
c.5013G= (p.Thr1671=)
c.5007G= (p.Thr1669=)
c.4986G= (p.Thr1662=)
c.3897G= (p.Thr1299=)
c.4995G= (p.Thr1665=)
n.877G=
11g.70473397C>GCA475470828SHANK2c.3255G>C (p.Thr1085=)
c.800G>C (n.800G>C)
c.5022G>C (p.Thr1674=)
c.2531G>C
c.3885G>C (p.Thr1295=)
c.3312G>C (p.Thr1104=)
c.3258G>C (p.Thr1086=)
c.*26G>C (n.*26G>C)
c.3234G>C (p.Thr1078=)
c.798G>C
c.2859G>C (p.Thr953=)
n.1774G>C
n.876G>C
c.4992G>C (p.Thr1664=)
c.5034G>C (p.Thr1678=)
c.5013G>C (p.Thr1671=)
c.5007G>C (p.Thr1669=)
c.4986G>C (p.Thr1662=)
c.3897G>C (p.Thr1299=)
c.4995G>C (p.Thr1665=)
n.877G>C
 gnomAD v4
11g.70473397C>TCA6160786SHANK2c.3255G>A (p.Thr1085=)
c.800G>A (n.800G>A)
c.5022G>A (p.Thr1674=)
c.2531G>A
c.3885G>A (p.Thr1295=)
c.3312G>A (p.Thr1104=)
c.3258G>A (p.Thr1086=)
c.*26G>A (n.*26G>A)
c.3234G>A (p.Thr1078=)
c.798G>A
c.2859G>A (p.Thr953=)
n.1774G>A
n.876G>A
c.4992G>A (p.Thr1664=)
c.5034G>A (p.Thr1678=)
c.5013G>A (p.Thr1671=)
c.5007G>A (p.Thr1669=)
c.4986G>A (p.Thr1662=)
c.3897G>A (p.Thr1299=)
c.4995G>A (p.Thr1665=)
n.877G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473398G>ACA214622SHANK2c.3254C>T (p.Thr1085Met)
c.799C>T (n.799C>T)
c.5021C>T (p.Thr1674Met)
c.2530C>T
c.3884C>T (p.Thr1295Met)
c.3311C>T (p.Thr1104Met)
c.3257C>T (p.Thr1086Met)
c.*25C>T (n.*25C>T)
c.3233C>T (p.Thr1078Met)
c.797C>T
c.2858C>T (p.Thr953Met)
n.1773C>T
n.875C>T
c.4991C>T (p.Thr1664Met)
c.5033C>T (p.Thr1678Met)
c.5012C>T (p.Thr1671Met)
c.5006C>T (p.Thr1669Met)
c.4985C>T (p.Thr1662Met)
c.3896C>T (p.Thr1299Met)
c.4994C>T (p.Thr1665Met)
n.876C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473398G>CCA381676715SHANK2c.3254C>G (p.Thr1085Arg)
c.799C>G (n.799C>G)
c.5021C>G (p.Thr1674Arg)
c.2530C>G
c.3884C>G (p.Thr1295Arg)
c.3311C>G (p.Thr1104Arg)
c.3257C>G (p.Thr1086Arg)
c.*25C>G (n.*25C>G)
c.3233C>G (p.Thr1078Arg)
c.797C>G
c.2858C>G (p.Thr953Arg)
n.1773C>G
n.875C>G
c.4991C>G (p.Thr1664Arg)
c.5033C>G (p.Thr1678Arg)
c.5012C>G (p.Thr1671Arg)
c.5006C>G (p.Thr1669Arg)
c.4985C>G (p.Thr1662Arg)
c.3896C>G (p.Thr1299Arg)
c.4994C>G (p.Thr1665Arg)
n.876C>G
11g.70473398G=CA1981068042SHANK2c.3254C= (p.Thr1085=)
c.799C= (n.799C=)
c.5021C= (p.Thr1674=)
c.2530C=
c.3884C= (p.Thr1295=)
c.3311C= (p.Thr1104=)
c.3257C= (p.Thr1086=)
c.*25C= (n.*25C=)
c.3233C= (p.Thr1078=)
c.797C=
c.2858C= (p.Thr953=)
n.1773C=
n.875C=
c.4991C= (p.Thr1664=)
c.5033C= (p.Thr1678=)
c.5012C= (p.Thr1671=)
c.5006C= (p.Thr1669=)
c.4985C= (p.Thr1662=)
c.3896C= (p.Thr1299=)
c.4994C= (p.Thr1665=)
n.876C=
11g.70473398G>TCA381676719SHANK2c.3254C>A (p.Thr1085Lys)
c.799C>A (n.799C>A)
c.5021C>A (p.Thr1674Lys)
c.2530C>A
c.3884C>A (p.Thr1295Lys)
c.3311C>A (p.Thr1104Lys)
c.3257C>A (p.Thr1086Lys)
c.*25C>A (n.*25C>A)
c.3233C>A (p.Thr1078Lys)
c.797C>A
c.2858C>A (p.Thr953Lys)
n.1773C>A
n.875C>A
c.4991C>A (p.Thr1664Lys)
c.5033C>A (p.Thr1678Lys)
c.5012C>A (p.Thr1671Lys)
c.5006C>A (p.Thr1669Lys)
c.4985C>A (p.Thr1662Lys)
c.3896C>A (p.Thr1299Lys)
c.4994C>A (p.Thr1665Lys)
n.876C>A
 gnomAD v4
11g.70473399T>ACA381676722SHANK2c.3253A>T (p.Thr1085Ser)
c.798A>T (n.798A>T)
c.5020A>T (p.Thr1674Ser)
c.2529A>T
c.3883A>T (p.Thr1295Ser)
c.3310A>T (p.Thr1104Ser)
c.3256A>T (p.Thr1086Ser)
c.*24A>T (n.*24A>T)
c.3232A>T (p.Thr1078Ser)
c.796A>T
c.2857A>T (p.Thr953Ser)
n.1772A>T
n.874A>T
c.4990A>T (p.Thr1664Ser)
c.5032A>T (p.Thr1678Ser)
c.5011A>T (p.Thr1671Ser)
c.5005A>T (p.Thr1669Ser)
c.4984A>T (p.Thr1662Ser)
c.3895A>T (p.Thr1299Ser)
c.4993A>T (p.Thr1665Ser)
n.875A>T
11g.70473399T>CCA381676723SHANK2c.3253A>G (p.Thr1085Ala)
c.798A>G (n.798A>G)
c.5020A>G (p.Thr1674Ala)
c.2529A>G
c.3883A>G (p.Thr1295Ala)
c.3310A>G (p.Thr1104Ala)
c.3256A>G (p.Thr1086Ala)
c.*24A>G (n.*24A>G)
c.3232A>G (p.Thr1078Ala)
c.796A>G
c.2857A>G (p.Thr953Ala)
n.1772A>G
n.874A>G
c.4990A>G (p.Thr1664Ala)
c.5032A>G (p.Thr1678Ala)
c.5011A>G (p.Thr1671Ala)
c.5005A>G (p.Thr1669Ala)
c.4984A>G (p.Thr1662Ala)
c.3895A>G (p.Thr1299Ala)
c.4993A>G (p.Thr1665Ala)
n.875A>G
 dbSNP gnomAD v4
11g.70473399T>GCA381676724SHANK2c.3253A>C (p.Thr1085Pro)
c.798A>C (n.798A>C)
c.5020A>C (p.Thr1674Pro)
c.2529A>C
c.3883A>C (p.Thr1295Pro)
c.3310A>C (p.Thr1104Pro)
c.3256A>C (p.Thr1086Pro)
c.*24A>C (n.*24A>C)
c.3232A>C (p.Thr1078Pro)
c.796A>C
c.2857A>C (p.Thr953Pro)
n.1772A>C
n.874A>C
c.4990A>C (p.Thr1664Pro)
c.5032A>C (p.Thr1678Pro)
c.5011A>C (p.Thr1671Pro)
c.5005A>C (p.Thr1669Pro)
c.4984A>C (p.Thr1662Pro)
c.3895A>C (p.Thr1299Pro)
c.4993A>C (p.Thr1665Pro)
n.875A>C
11g.70473399T=CA1981068043SHANK2c.3253A= (p.Thr1085=)
c.798A= (n.798A=)
c.5020A= (p.Thr1674=)
c.2529A=
c.3883A= (p.Thr1295=)
c.3310A= (p.Thr1104=)
c.3256A= (p.Thr1086=)
c.*24A= (n.*24A=)
c.3232A= (p.Thr1078=)
c.796A=
c.2857A= (p.Thr953=)
n.1772A=
n.874A=
c.4990A= (p.Thr1664=)
c.5032A= (p.Thr1678=)
c.5011A= (p.Thr1671=)
c.5005A= (p.Thr1669=)
c.4984A= (p.Thr1662=)
c.3895A= (p.Thr1299=)
c.4993A= (p.Thr1665=)
n.875A=
11g.70473400G>ACA475470830SHANK2c.3252C>T (p.Ser1084=)
c.797C>T (n.797C>T)
c.5019C>T (p.Ser1673=)
c.2528C>T
c.3882C>T (p.Ser1294=)
c.3309C>T (p.Ser1103=)
c.3255C>T (p.Ser1085=)
c.*23C>T (n.*23C>T)
c.3231C>T (p.Ser1077=)
c.795C>T
c.2856C>T (p.Ser952=)
n.1771C>T
n.873C>T
c.4989C>T (p.Ser1663=)
c.5031C>T (p.Ser1677=)
c.5010C>T (p.Ser1670=)
c.5004C>T (p.Ser1668=)
c.4983C>T (p.Ser1661=)
c.3894C>T (p.Ser1298=)
c.4992C>T (p.Ser1664=)
n.874C>T
 gnomAD v4
11g.70473400G>CCA381676728SHANK2c.3252C>G (p.Ser1084Arg)
c.797C>G (n.797C>G)
c.5019C>G (p.Ser1673Arg)
c.2528C>G
c.3882C>G (p.Ser1294Arg)
c.3309C>G (p.Ser1103Arg)
c.3255C>G (p.Ser1085Arg)
c.*23C>G (n.*23C>G)
c.3231C>G (p.Ser1077Arg)
c.795C>G
c.2856C>G (p.Ser952Arg)
n.1771C>G
n.873C>G
c.4989C>G (p.Ser1663Arg)
c.5031C>G (p.Ser1677Arg)
c.5010C>G (p.Ser1670Arg)
c.5004C>G (p.Ser1668Arg)
c.4983C>G (p.Ser1661Arg)
c.3894C>G (p.Ser1298Arg)
c.4992C>G (p.Ser1664Arg)
n.874C>G
11g.70473400G>TCA381676727SHANK2c.3252C>A (p.Ser1084Arg)
c.797C>A (n.797C>A)
c.5019C>A (p.Ser1673Arg)
c.2528C>A
c.3882C>A (p.Ser1294Arg)
c.3309C>A (p.Ser1103Arg)
c.3255C>A (p.Ser1085Arg)
c.*23C>A (n.*23C>A)
c.3231C>A (p.Ser1077Arg)
c.795C>A
c.2856C>A (p.Ser952Arg)
n.1771C>A
n.873C>A
c.4989C>A (p.Ser1663Arg)
c.5031C>A (p.Ser1677Arg)
c.5010C>A (p.Ser1670Arg)
c.5004C>A (p.Ser1668Arg)
c.4983C>A (p.Ser1661Arg)
c.3894C>A (p.Ser1298Arg)
c.4992C>A (p.Ser1664Arg)
n.874C>A
 gnomAD v4
11g.70473401C>ACA381676729SHANK2c.3251G>T (p.Ser1084Ile)
c.796G>T (n.796G>T)
c.5018G>T (p.Ser1673Ile)
c.2527G>T
c.3881G>T (p.Ser1294Ile)
c.3308G>T (p.Ser1103Ile)
c.3254G>T (p.Ser1085Ile)
c.*22G>T (n.*22G>T)
c.3230G>T (p.Ser1077Ile)
c.794G>T
c.2855G>T (p.Ser952Ile)
n.1770G>T
n.872G>T
c.4988G>T (p.Ser1663Ile)
c.5030G>T (p.Ser1677Ile)
c.5009G>T (p.Ser1670Ile)
c.5003G>T (p.Ser1668Ile)
c.4982G>T (p.Ser1661Ile)
c.3893G>T (p.Ser1298Ile)
c.4991G>T (p.Ser1664Ile)
n.873G>T
11g.70473401C=CA1981068044SHANK2c.3251G= (p.Ser1084=)
c.796G= (n.796G=)
c.5018G= (p.Ser1673=)
c.2527G=
c.3881G= (p.Ser1294=)
c.3308G= (p.Ser1103=)
c.3254G= (p.Ser1085=)
c.*22G= (n.*22G=)
c.3230G= (p.Ser1077=)
c.794G=
c.2855G= (p.Ser952=)
n.1770G=
n.872G=
c.4988G= (p.Ser1663=)
c.5030G= (p.Ser1677=)
c.5009G= (p.Ser1670=)
c.5003G= (p.Ser1668=)
c.4982G= (p.Ser1661=)
c.3893G= (p.Ser1298=)
c.4991G= (p.Ser1664=)
n.873G=
11g.70473401C>GCA381676730SHANK2c.3251G>C (p.Ser1084Thr)
c.796G>C (n.796G>C)
c.5018G>C (p.Ser1673Thr)
c.2527G>C
c.3881G>C (p.Ser1294Thr)
c.3308G>C (p.Ser1103Thr)
c.3254G>C (p.Ser1085Thr)
c.*22G>C (n.*22G>C)
c.3230G>C (p.Ser1077Thr)
c.794G>C
c.2855G>C (p.Ser952Thr)
n.1770G>C
n.872G>C
c.4988G>C (p.Ser1663Thr)
c.5030G>C (p.Ser1677Thr)
c.5009G>C (p.Ser1670Thr)
c.5003G>C (p.Ser1668Thr)
c.4982G>C (p.Ser1661Thr)
c.3893G>C (p.Ser1298Thr)
c.4991G>C (p.Ser1664Thr)
n.873G>C
11g.70473401C>TCA381676732SHANK2c.3251G>A (p.Ser1084Asn)
c.796G>A (n.796G>A)
c.5018G>A (p.Ser1673Asn)
c.2527G>A
c.3881G>A (p.Ser1294Asn)
c.3308G>A (p.Ser1103Asn)
c.3254G>A (p.Ser1085Asn)
c.*22G>A (n.*22G>A)
c.3230G>A (p.Ser1077Asn)
c.794G>A
c.2855G>A (p.Ser952Asn)
n.1770G>A
n.872G>A
c.4988G>A (p.Ser1663Asn)
c.5030G>A (p.Ser1677Asn)
c.5009G>A (p.Ser1670Asn)
c.5003G>A (p.Ser1668Asn)
c.4982G>A (p.Ser1661Asn)
c.3893G>A (p.Ser1298Asn)
c.4991G>A (p.Ser1664Asn)
n.873G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70473402T>ACA381676734SHANK2c.3250A>T (p.Ser1084Cys)
c.795A>T (n.795A>T)
c.5017A>T (p.Ser1673Cys)
c.2526A>T
c.3880A>T (p.Ser1294Cys)
c.3307A>T (p.Ser1103Cys)
c.3253A>T (p.Ser1085Cys)
c.*21A>T (n.*21A>T)
c.3229A>T (p.Ser1077Cys)
c.793A>T
c.2854A>T (p.Ser952Cys)
n.1769A>T
n.871A>T
c.4987A>T (p.Ser1663Cys)
c.5029A>T (p.Ser1677Cys)
c.5008A>T (p.Ser1670Cys)
c.5002A>T (p.Ser1668Cys)
c.4981A>T (p.Ser1661Cys)
c.3892A>T (p.Ser1298Cys)
c.4990A>T (p.Ser1664Cys)
n.872A>T
11g.70473402T>CCA381676736SHANK2c.3250A>G (p.Ser1084Gly)
c.795A>G (n.795A>G)
c.5017A>G (p.Ser1673Gly)
c.2526A>G
c.3880A>G (p.Ser1294Gly)
c.3307A>G (p.Ser1103Gly)
c.3253A>G (p.Ser1085Gly)
c.*21A>G (n.*21A>G)
c.3229A>G (p.Ser1077Gly)
c.793A>G
c.2854A>G (p.Ser952Gly)
n.1769A>G
n.871A>G
c.4987A>G (p.Ser1663Gly)
c.5029A>G (p.Ser1677Gly)
c.5008A>G (p.Ser1670Gly)
c.5002A>G (p.Ser1668Gly)
c.4981A>G (p.Ser1661Gly)
c.3892A>G (p.Ser1298Gly)
c.4990A>G (p.Ser1664Gly)
n.872A>G
11g.70473402T>GCA381676742SHANK2c.3250A>C (p.Ser1084Arg)
c.795A>C (n.795A>C)
c.5017A>C (p.Ser1673Arg)
c.2526A>C
c.3880A>C (p.Ser1294Arg)
c.3307A>C (p.Ser1103Arg)
c.3253A>C (p.Ser1085Arg)
c.*21A>C (n.*21A>C)
c.3229A>C (p.Ser1077Arg)
c.793A>C
c.2854A>C (p.Ser952Arg)
n.1769A>C
n.871A>C
c.4987A>C (p.Ser1663Arg)
c.5029A>C (p.Ser1677Arg)
c.5008A>C (p.Ser1670Arg)
c.5002A>C (p.Ser1668Arg)
c.4981A>C (p.Ser1661Arg)
c.3892A>C (p.Ser1298Arg)
c.4990A>C (p.Ser1664Arg)
n.872A>C
11g.70473403C>ACA475470834SHANK2c.3249G>T (p.Arg1083=)
c.794G>T (n.794G>T)
c.5016G>T (p.Arg1672=)
c.2525G>T
c.3879G>T (p.Arg1293=)
c.3306G>T (p.Arg1102=)
c.3252G>T (p.Arg1084=)
c.*20G>T (n.*20G>T)
c.3228G>T (p.Arg1076=)
c.792G>T
c.2853G>T (p.Arg951=)
n.1768G>T
n.870G>T
c.4986G>T (p.Arg1662=)
c.5028G>T (p.Arg1676=)
c.5007G>T (p.Arg1669=)
c.5001G>T (p.Arg1667=)
c.4980G>T (p.Arg1660=)
c.3891G>T (p.Arg1297=)
c.4989G>T (p.Arg1663=)
n.871G>T
 gnomAD v4
11g.70473403C>GCA475470838SHANK2c.3249G>C (p.Arg1083=)
c.794G>C (n.794G>C)
c.5016G>C (p.Arg1672=)
c.2525G>C
c.3879G>C (p.Arg1293=)
c.3306G>C (p.Arg1102=)
c.3252G>C (p.Arg1084=)
c.*20G>C (n.*20G>C)
c.3228G>C (p.Arg1076=)
c.792G>C
c.2853G>C (p.Arg951=)
n.1768G>C
n.870G>C
c.4986G>C (p.Arg1662=)
c.5028G>C (p.Arg1676=)
c.5007G>C (p.Arg1669=)
c.5001G>C (p.Arg1667=)
c.4980G>C (p.Arg1660=)
c.3891G>C (p.Arg1297=)
c.4989G>C (p.Arg1663=)
n.871G>C
11g.70473403C>TCA475470836SHANK2c.3249G>A (p.Arg1083=)
c.794G>A (n.794G>A)
c.5016G>A (p.Arg1672=)
c.2525G>A
c.3879G>A (p.Arg1293=)
c.3306G>A (p.Arg1102=)
c.3252G>A (p.Arg1084=)
c.*20G>A (n.*20G>A)
c.3228G>A (p.Arg1076=)
c.792G>A
c.2853G>A (p.Arg951=)
n.1768G>A
n.870G>A
c.4986G>A (p.Arg1662=)
c.5028G>A (p.Arg1676=)
c.5007G>A (p.Arg1669=)
c.5001G>A (p.Arg1667=)
c.4980G>A (p.Arg1660=)
c.3891G>A (p.Arg1297=)
c.4989G>A (p.Arg1663=)
n.871G>A
11g.70473404C>ACA381676743SHANK2c.3248G>T (p.Arg1083Leu)
c.793G>T (n.793G>T)
c.5015G>T (p.Arg1672Leu)
c.2524G>T
c.3878G>T (p.Arg1293Leu)
c.3305G>T (p.Arg1102Leu)
c.3251G>T (p.Arg1084Leu)
c.*19G>T (n.*19G>T)
c.3227G>T (p.Arg1076Leu)
c.791G>T
c.2852G>T (p.Arg951Leu)
n.1767G>T
n.869G>T
c.4985G>T (p.Arg1662Leu)
c.5027G>T (p.Arg1676Leu)
c.5006G>T (p.Arg1669Leu)
c.5000G>T (p.Arg1667Leu)
c.4979G>T (p.Arg1660Leu)
c.3890G>T (p.Arg1297Leu)
c.4988G>T (p.Arg1663Leu)
n.870G>T
 gnomAD v4
11g.70473404C=CA1981068045SHANK2c.3248G= (p.Arg1083=)
c.793G= (n.793G=)
c.5015G= (p.Arg1672=)
c.2524G=
c.3878G= (p.Arg1293=)
c.3305G= (p.Arg1102=)
c.3251G= (p.Arg1084=)
c.*19G= (n.*19G=)
c.3227G= (p.Arg1076=)
c.791G=
c.2852G= (p.Arg951=)
n.1767G=
n.869G=
c.4985G= (p.Arg1662=)
c.5027G= (p.Arg1676=)
c.5006G= (p.Arg1669=)
c.5000G= (p.Arg1667=)
c.4979G= (p.Arg1660=)
c.3890G= (p.Arg1297=)
c.4988G= (p.Arg1663=)
n.870G=
11g.70473404C>GCA381676744SHANK2c.3248G>C (p.Arg1083Pro)
c.793G>C (n.793G>C)
c.5015G>C (p.Arg1672Pro)
c.2524G>C
c.3878G>C (p.Arg1293Pro)
c.3305G>C (p.Arg1102Pro)
c.3251G>C (p.Arg1084Pro)
c.*19G>C (n.*19G>C)
c.3227G>C (p.Arg1076Pro)
c.791G>C
c.2852G>C (p.Arg951Pro)
n.1767G>C
n.869G>C
c.4985G>C (p.Arg1662Pro)
c.5027G>C (p.Arg1676Pro)
c.5006G>C (p.Arg1669Pro)
c.5000G>C (p.Arg1667Pro)
c.4979G>C (p.Arg1660Pro)
c.3890G>C (p.Arg1297Pro)
c.4988G>C (p.Arg1663Pro)
n.870G>C
11g.70473404C>TCA6160787SHANK2c.3248G>A (p.Arg1083Gln)
c.793G>A (n.793G>A)
c.5015G>A (p.Arg1672Gln)
c.2524G>A
c.3878G>A (p.Arg1293Gln)
c.3305G>A (p.Arg1102Gln)
c.3251G>A (p.Arg1084Gln)
c.*19G>A (n.*19G>A)
c.3227G>A (p.Arg1076Gln)
c.791G>A
c.2852G>A (p.Arg951Gln)
n.1767G>A
n.869G>A
c.4985G>A (p.Arg1662Gln)
c.5027G>A (p.Arg1676Gln)
c.5006G>A (p.Arg1669Gln)
c.5000G>A (p.Arg1667Gln)
c.4979G>A (p.Arg1660Gln)
c.3890G>A (p.Arg1297Gln)
c.4988G>A (p.Arg1663Gln)
n.870G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473405G>ACA223591893SHANK2c.3247C>T (p.Arg1083Trp)
c.792C>T (n.792C>T)
c.5014C>T (p.Arg1672Trp)
c.2523C>T
c.3877C>T (p.Arg1293Trp)
c.3304C>T (p.Arg1102Trp)
c.3250C>T (p.Arg1084Trp)
c.*18C>T (n.*18C>T)
c.3226C>T (p.Arg1076Trp)
c.790C>T
c.2851C>T (p.Arg951Trp)
n.1766C>T
n.868C>T
c.4984C>T (p.Arg1662Trp)
c.5026C>T (p.Arg1676Trp)
c.5005C>T (p.Arg1669Trp)
c.4999C>T (p.Arg1667Trp)
c.4978C>T (p.Arg1660Trp)
c.3889C>T (p.Arg1297Trp)
c.4987C>T (p.Arg1663Trp)
n.869C>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473405G>CCA6160788SHANK2c.3247C>G (p.Arg1083Gly)
c.792C>G (n.792C>G)
c.5014C>G (p.Arg1672Gly)
c.2523C>G
c.3877C>G (p.Arg1293Gly)
c.3304C>G (p.Arg1102Gly)
c.3250C>G (p.Arg1084Gly)
c.*18C>G (n.*18C>G)
c.3226C>G (p.Arg1076Gly)
c.790C>G
c.2851C>G (p.Arg951Gly)
n.1766C>G
n.868C>G
c.4984C>G (p.Arg1662Gly)
c.5026C>G (p.Arg1676Gly)
c.5005C>G (p.Arg1669Gly)
c.4999C>G (p.Arg1667Gly)
c.4978C>G (p.Arg1660Gly)
c.3889C>G (p.Arg1297Gly)
c.4987C>G (p.Arg1663Gly)
n.869C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473405G=CA1981068046SHANK2c.3247C= (p.Arg1083=)
c.792C= (n.792C=)
c.5014C= (p.Arg1672=)
c.2523C=
c.3877C= (p.Arg1293=)
c.3304C= (p.Arg1102=)
c.3250C= (p.Arg1084=)
c.*18C= (n.*18C=)
c.3226C= (p.Arg1076=)
c.790C=
c.2851C= (p.Arg951=)
n.1766C=
n.868C=
c.4984C= (p.Arg1662=)
c.5026C= (p.Arg1676=)
c.5005C= (p.Arg1669=)
c.4999C= (p.Arg1667=)
c.4978C= (p.Arg1660=)
c.3889C= (p.Arg1297=)
c.4987C= (p.Arg1663=)
n.869C=
11g.70473405G>TCA475470840SHANK2c.3247C>A (p.Arg1083=)
c.792C>A (n.792C>A)
c.5014C>A (p.Arg1672=)
c.2523C>A
c.3877C>A (p.Arg1293=)
c.3304C>A (p.Arg1102=)
c.3250C>A (p.Arg1084=)
c.*18C>A (n.*18C>A)
c.3226C>A (p.Arg1076=)
c.790C>A
c.2851C>A (p.Arg951=)
n.1766C>A
n.868C>A
c.4984C>A (p.Arg1662=)
c.5026C>A (p.Arg1676=)
c.5005C>A (p.Arg1669=)
c.4999C>A (p.Arg1667=)
c.4978C>A (p.Arg1660=)
c.3889C>A (p.Arg1297=)
c.4987C>A (p.Arg1663=)
n.869C>A
 gnomAD v4
11g.70473406T>ACA475470841SHANK2c.3246A>T (p.Thr1082=)
c.791A>T (n.791A>T)
c.5013A>T (p.Thr1671=)
c.2522A>T
c.3876A>T (p.Thr1292=)
c.3303A>T (p.Thr1101=)
c.3249A>T (p.Thr1083=)
c.*17A>T (n.*17A>T)
c.3225A>T (p.Thr1075=)
c.789A>T
c.2850A>T (p.Thr950=)
n.1765A>T
n.867A>T
c.4983A>T (p.Thr1661=)
c.5025A>T (p.Thr1675=)
c.5004A>T (p.Thr1668=)
c.4998A>T (p.Thr1666=)
c.4977A>T (p.Thr1659=)
c.3888A>T (p.Thr1296=)
c.4986A>T (p.Thr1662=)
n.868A>T
11g.70473406T>CCA475470842SHANK2c.3246A>G (p.Thr1082=)
c.791A>G (n.791A>G)
c.5013A>G (p.Thr1671=)
c.2522A>G
c.3876A>G (p.Thr1292=)
c.3303A>G (p.Thr1101=)
c.3249A>G (p.Thr1083=)
c.*17A>G (n.*17A>G)
c.3225A>G (p.Thr1075=)
c.789A>G
c.2850A>G (p.Thr950=)
n.1765A>G
n.867A>G
c.4983A>G (p.Thr1661=)
c.5025A>G (p.Thr1675=)
c.5004A>G (p.Thr1668=)
c.4998A>G (p.Thr1666=)
c.4977A>G (p.Thr1659=)
c.3888A>G (p.Thr1296=)
c.4986A>G (p.Thr1662=)
n.868A>G
11g.70473406T>GCA475470843SHANK2c.3246A>C (p.Thr1082=)
c.791A>C (n.791A>C)
c.5013A>C (p.Thr1671=)
c.2522A>C
c.3876A>C (p.Thr1292=)
c.3303A>C (p.Thr1101=)
c.3249A>C (p.Thr1083=)
c.*17A>C (n.*17A>C)
c.3225A>C (p.Thr1075=)
c.789A>C
c.2850A>C (p.Thr950=)
n.1765A>C
n.867A>C
c.4983A>C (p.Thr1661=)
c.5025A>C (p.Thr1675=)
c.5004A>C (p.Thr1668=)
c.4998A>C (p.Thr1666=)
c.4977A>C (p.Thr1659=)
c.3888A>C (p.Thr1296=)
c.4986A>C (p.Thr1662=)
n.868A>C
11g.70473407G>ACA223591898SHANK2c.3245C>T (p.Thr1082Ile)
c.790C>T (n.790C>T)
c.5012C>T (p.Thr1671Ile)
c.2521C>T
c.3875C>T (p.Thr1292Ile)
c.3302C>T (p.Thr1101Ile)
c.3248C>T (p.Thr1083Ile)
c.*16C>T (n.*16C>T)
c.3224C>T (p.Thr1075Ile)
c.788C>T
c.2849C>T (p.Thr950Ile)
n.1764C>T
n.866C>T
c.4982C>T (p.Thr1661Ile)
c.5024C>T (p.Thr1675Ile)
c.5003C>T (p.Thr1668Ile)
c.4997C>T (p.Thr1666Ile)
c.4976C>T (p.Thr1659Ile)
c.3887C>T (p.Thr1296Ile)
c.4985C>T (p.Thr1662Ile)
n.867C>T
 dbSNP
11g.70473407G>CCA381676753SHANK2c.3245C>G (p.Thr1082Arg)
c.790C>G (n.790C>G)
c.5012C>G (p.Thr1671Arg)
c.2521C>G
c.3875C>G (p.Thr1292Arg)
c.3302C>G (p.Thr1101Arg)
c.3248C>G (p.Thr1083Arg)
c.*16C>G (n.*16C>G)
c.3224C>G (p.Thr1075Arg)
c.788C>G
c.2849C>G (p.Thr950Arg)
n.1764C>G
n.866C>G
c.4982C>G (p.Thr1661Arg)
c.5024C>G (p.Thr1675Arg)
c.5003C>G (p.Thr1668Arg)
c.4997C>G (p.Thr1666Arg)
c.4976C>G (p.Thr1659Arg)
c.3887C>G (p.Thr1296Arg)
c.4985C>G (p.Thr1662Arg)
n.867C>G
11g.70473407G=CA1981068047SHANK2c.3245C= (p.Thr1082=)
c.790C= (n.790C=)
c.5012C= (p.Thr1671=)
c.2521C=
c.3875C= (p.Thr1292=)
c.3302C= (p.Thr1101=)
c.3248C= (p.Thr1083=)
c.*16C= (n.*16C=)
c.3224C= (p.Thr1075=)
c.788C=
c.2849C= (p.Thr950=)
n.1764C=
n.866C=
c.4982C= (p.Thr1661=)
c.5024C= (p.Thr1675=)
c.5003C= (p.Thr1668=)
c.4997C= (p.Thr1666=)
c.4976C= (p.Thr1659=)
c.3887C= (p.Thr1296=)
c.4985C= (p.Thr1662=)
n.867C=
11g.70473407G>TCA381676755SHANK2c.3245C>A (p.Thr1082Lys)
c.790C>A (n.790C>A)
c.5012C>A (p.Thr1671Lys)
c.2521C>A
c.3875C>A (p.Thr1292Lys)
c.3302C>A (p.Thr1101Lys)
c.3248C>A (p.Thr1083Lys)
c.*16C>A (n.*16C>A)
c.3224C>A (p.Thr1075Lys)
c.788C>A
c.2849C>A (p.Thr950Lys)
n.1764C>A
n.866C>A
c.4982C>A (p.Thr1661Lys)
c.5024C>A (p.Thr1675Lys)
c.5003C>A (p.Thr1668Lys)
c.4997C>A (p.Thr1666Lys)
c.4976C>A (p.Thr1659Lys)
c.3887C>A (p.Thr1296Lys)
c.4985C>A (p.Thr1662Lys)
n.867C>A
 gnomAD v4
11g.70473408T>ACA381676758SHANK2c.3244A>T (p.Thr1082Ser)
c.789A>T (n.789A>T)
c.5011A>T (p.Thr1671Ser)
c.2520A>T
c.3874A>T (p.Thr1292Ser)
c.3301A>T (p.Thr1101Ser)
c.3247A>T (p.Thr1083Ser)
c.*15A>T (n.*15A>T)
c.3223A>T (p.Thr1075Ser)
c.787A>T
c.2848A>T (p.Thr950Ser)
n.1763A>T
n.865A>T
c.4981A>T (p.Thr1661Ser)
c.5023A>T (p.Thr1675Ser)
c.5002A>T (p.Thr1668Ser)
c.4996A>T (p.Thr1666Ser)
c.4975A>T (p.Thr1659Ser)
c.3886A>T (p.Thr1296Ser)
c.4984A>T (p.Thr1662Ser)
n.866A>T
11g.70473408T>CCA381676761SHANK2c.3244A>G (p.Thr1082Ala)
c.789A>G (n.789A>G)
c.5011A>G (p.Thr1671Ala)
c.2520A>G
c.3874A>G (p.Thr1292Ala)
c.3301A>G (p.Thr1101Ala)
c.3247A>G (p.Thr1083Ala)
c.*15A>G (n.*15A>G)
c.3223A>G (p.Thr1075Ala)
c.787A>G
c.2848A>G (p.Thr950Ala)
n.1763A>G
n.865A>G
c.4981A>G (p.Thr1661Ala)
c.5023A>G (p.Thr1675Ala)
c.5002A>G (p.Thr1668Ala)
c.4996A>G (p.Thr1666Ala)
c.4975A>G (p.Thr1659Ala)
c.3886A>G (p.Thr1296Ala)
c.4984A>G (p.Thr1662Ala)
n.866A>G
 dbSNP gnomAD v2 gnomAD v4
11g.70473408T>GCA381676763SHANK2c.3244A>C (p.Thr1082Pro)
c.789A>C (n.789A>C)
c.5011A>C (p.Thr1671Pro)
c.2520A>C
c.3874A>C (p.Thr1292Pro)
c.3301A>C (p.Thr1101Pro)
c.3247A>C (p.Thr1083Pro)
c.*15A>C (n.*15A>C)
c.3223A>C (p.Thr1075Pro)
c.787A>C
c.2848A>C (p.Thr950Pro)
n.1763A>C
n.865A>C
c.4981A>C (p.Thr1661Pro)
c.5023A>C (p.Thr1675Pro)
c.5002A>C (p.Thr1668Pro)
c.4996A>C (p.Thr1666Pro)
c.4975A>C (p.Thr1659Pro)
c.3886A>C (p.Thr1296Pro)
c.4984A>C (p.Thr1662Pro)
n.866A>C
11g.70473408T=CA1981068048SHANK2c.3244A= (p.Thr1082=)
c.789A= (n.789A=)
c.5011A= (p.Thr1671=)
c.2520A=
c.3874A= (p.Thr1292=)
c.3301A= (p.Thr1101=)
c.3247A= (p.Thr1083=)
c.*15A= (n.*15A=)
c.3223A= (p.Thr1075=)
c.787A=
c.2848A= (p.Thr950=)
n.1763A=
n.865A=
c.4981A= (p.Thr1661=)
c.5023A= (p.Thr1675=)
c.5002A= (p.Thr1668=)
c.4996A= (p.Thr1666=)
c.4975A= (p.Thr1659=)
c.3886A= (p.Thr1296=)
c.4984A= (p.Thr1662=)
n.866A=
11g.70473409A>CCA475470847SHANK2c.3243T>G (p.Gly1081=)
c.788T>G (n.788T>G)
c.5010T>G (p.Gly1670=)
c.2519T>G
c.3873T>G (p.Gly1291=)
c.3300T>G (p.Gly1100=)
c.3246T>G (p.Gly1082=)
c.*14T>G (n.*14T>G)
c.3222T>G (p.Gly1074=)
c.786T>G
c.2847T>G (p.Gly949=)
n.1762T>G
n.864T>G
c.4980T>G (p.Gly1660=)
c.5022T>G (p.Gly1674=)
c.5001T>G (p.Gly1667=)
c.4995T>G (p.Gly1665=)
c.4974T>G (p.Gly1658=)
c.3885T>G (p.Gly1295=)
c.4983T>G (p.Gly1661=)
n.865T>G
11g.70473409A>GCA475470848SHANK2c.3243T>C (p.Gly1081=)
c.788T>C (n.788T>C)
c.5010T>C (p.Gly1670=)
c.2519T>C
c.3873T>C (p.Gly1291=)
c.3300T>C (p.Gly1100=)
c.3246T>C (p.Gly1082=)
c.*14T>C (n.*14T>C)
c.3222T>C (p.Gly1074=)
c.786T>C
c.2847T>C (p.Gly949=)
n.1762T>C
n.864T>C
c.4980T>C (p.Gly1660=)
c.5022T>C (p.Gly1674=)
c.5001T>C (p.Gly1667=)
c.4995T>C (p.Gly1665=)
c.4974T>C (p.Gly1658=)
c.3885T>C (p.Gly1295=)
c.4983T>C (p.Gly1661=)
n.865T>C
11g.70473409A>TCA475470849SHANK2c.3243T>A (p.Gly1081=)
c.788T>A (n.788T>A)
c.5010T>A (p.Gly1670=)
c.2519T>A
c.3873T>A (p.Gly1291=)
c.3300T>A (p.Gly1100=)
c.3246T>A (p.Gly1082=)
c.*14T>A (n.*14T>A)
c.3222T>A (p.Gly1074=)
c.786T>A
c.2847T>A (p.Gly949=)
n.1762T>A
n.864T>A
c.4980T>A (p.Gly1660=)
c.5022T>A (p.Gly1674=)
c.5001T>A (p.Gly1667=)
c.4995T>A (p.Gly1665=)
c.4974T>A (p.Gly1658=)
c.3885T>A (p.Gly1295=)
c.4983T>A (p.Gly1661=)
n.865T>A
11g.70473409_70473411delinsTCCACA2580084801SHANK2c.3241_3243delinsTGGA (p.Gly1081TrpfsTer29)
c.786_788delinsTGGA (n.786_788delinsTGGA)
c.5008_5010delinsTGGA (p.Gly1670TrpfsTer29)
c.2517_2519delinsTGGA
c.3871_3873delinsTGGA (p.Gly1291TrpfsTer29)
c.3298_3300delinsTGGA (p.Gly1100TrpfsTer29)
c.3244_3246delinsTGGA (p.Gly1082TrpfsTer29)
c.*12_*14delinsTGGA (n.*12_*14delinsTGGA)
c.3220_3222delinsTGGA (p.Gly1074TrpfsTer29)
c.784_786delinsTGGA
c.2845_2847delinsTGGA (p.Gly949TrpfsTer29)
n.1760_1762delinsTGGA
n.862_864delinsTGGA
c.4978_4980delinsTGGA (p.Gly1660TrpfsTer29)
c.5020_5022delinsTGGA (p.Gly1674TrpfsTer29)
c.4999_5001delinsTGGA (p.Gly1667TrpfsTer29)
c.4993_4995delinsTGGA (p.Gly1665TrpfsTer29)
c.4972_4974delinsTGGA (p.Gly1658TrpfsTer29)
c.3883_3885delinsTGGA (p.Gly1295TrpfsTer29)
c.4981_4983delinsTGGA (p.Gly1661TrpfsTer29)
n.863_865delinsTGGA
 ClinVar dbSNP
11g.70473410C>ACA381676764SHANK2c.3242G>T (p.Gly1081Val)
c.787G>T (n.787G>T)
c.5009G>T (p.Gly1670Val)
c.2518G>T
c.3872G>T (p.Gly1291Val)
c.3299G>T (p.Gly1100Val)
c.3245G>T (p.Gly1082Val)
c.*13G>T (n.*13G>T)
c.3221G>T (p.Gly1074Val)
c.785G>T
c.2846G>T (p.Gly949Val)
n.1761G>T
n.863G>T
c.4979G>T (p.Gly1660Val)
c.5021G>T (p.Gly1674Val)
c.5000G>T (p.Gly1667Val)
c.4994G>T (p.Gly1665Val)
c.4973G>T (p.Gly1658Val)
c.3884G>T (p.Gly1295Val)
c.4982G>T (p.Gly1661Val)
n.864G>T
11g.70473410C>GCA381676765SHANK2c.3242G>C (p.Gly1081Ala)
c.787G>C (n.787G>C)
c.5009G>C (p.Gly1670Ala)
c.2518G>C
c.3872G>C (p.Gly1291Ala)
c.3299G>C (p.Gly1100Ala)
c.3245G>C (p.Gly1082Ala)
c.*13G>C (n.*13G>C)
c.3221G>C (p.Gly1074Ala)
c.785G>C
c.2846G>C (p.Gly949Ala)
n.1761G>C
n.863G>C
c.4979G>C (p.Gly1660Ala)
c.5021G>C (p.Gly1674Ala)
c.5000G>C (p.Gly1667Ala)
c.4994G>C (p.Gly1665Ala)
c.4973G>C (p.Gly1658Ala)
c.3884G>C (p.Gly1295Ala)
c.4982G>C (p.Gly1661Ala)
n.864G>C
11g.70473410C>TCA381676766SHANK2c.3242G>A (p.Gly1081Asp)
c.787G>A (n.787G>A)
c.5009G>A (p.Gly1670Asp)
c.2518G>A
c.3872G>A (p.Gly1291Asp)
c.3299G>A (p.Gly1100Asp)
c.3245G>A (p.Gly1082Asp)
c.*13G>A (n.*13G>A)
c.3221G>A (p.Gly1074Asp)
c.785G>A
c.2846G>A (p.Gly949Asp)
n.1761G>A
n.863G>A
c.4979G>A (p.Gly1660Asp)
c.5021G>A (p.Gly1674Asp)
c.5000G>A (p.Gly1667Asp)
c.4994G>A (p.Gly1665Asp)
c.4973G>A (p.Gly1658Asp)
c.3884G>A (p.Gly1295Asp)
c.4982G>A (p.Gly1661Asp)
n.864G>A
11g.70473411C>ACA381676768SHANK2c.3241G>T (p.Gly1081Cys)
c.786G>T (n.786G>T)
c.5008G>T (p.Gly1670Cys)
c.2517G>T
c.3871G>T (p.Gly1291Cys)
c.3298G>T (p.Gly1100Cys)
c.3244G>T (p.Gly1082Cys)
c.*12G>T (n.*12G>T)
c.3220G>T (p.Gly1074Cys)
c.784G>T
c.2845G>T (p.Gly949Cys)
n.1760G>T
n.862G>T
c.4978G>T (p.Gly1660Cys)
c.5020G>T (p.Gly1674Cys)
c.4999G>T (p.Gly1667Cys)
c.4993G>T (p.Gly1665Cys)
c.4972G>T (p.Gly1658Cys)
c.3883G>T (p.Gly1295Cys)
c.4981G>T (p.Gly1661Cys)
n.863G>T
11g.70473411C>GCA381676772SHANK2c.3241G>C (p.Gly1081Arg)
c.786G>C (n.786G>C)
c.5008G>C (p.Gly1670Arg)
c.2517G>C
c.3871G>C (p.Gly1291Arg)
c.3298G>C (p.Gly1100Arg)
c.3244G>C (p.Gly1082Arg)
c.*12G>C (n.*12G>C)
c.3220G>C (p.Gly1074Arg)
c.784G>C
c.2845G>C (p.Gly949Arg)
n.1760G>C
n.862G>C
c.4978G>C (p.Gly1660Arg)
c.5020G>C (p.Gly1674Arg)
c.4999G>C (p.Gly1667Arg)
c.4993G>C (p.Gly1665Arg)
c.4972G>C (p.Gly1658Arg)
c.3883G>C (p.Gly1295Arg)
c.4981G>C (p.Gly1661Arg)
n.863G>C
11g.70473411C>TCA381676769SHANK2c.3241G>A (p.Gly1081Ser)
c.786G>A (n.786G>A)
c.5008G>A (p.Gly1670Ser)
c.2517G>A
c.3871G>A (p.Gly1291Ser)
c.3298G>A (p.Gly1100Ser)
c.3244G>A (p.Gly1082Ser)
c.*12G>A (n.*12G>A)
c.3220G>A (p.Gly1074Ser)
c.784G>A
c.2845G>A (p.Gly949Ser)
n.1760G>A
n.862G>A
c.4978G>A (p.Gly1660Ser)
c.5020G>A (p.Gly1674Ser)
c.4999G>A (p.Gly1667Ser)
c.4993G>A (p.Gly1665Ser)
c.4972G>A (p.Gly1658Ser)
c.3883G>A (p.Gly1295Ser)
c.4981G>A (p.Gly1661Ser)
n.863G>A
11g.70473412T>ACA475470855SHANK2c.3240A>T (p.Ser1080=)
c.785A>T (n.785A>T)
c.5007A>T (p.Ser1669=)
c.2516A>T
c.3870A>T (p.Ser1290=)
c.3297A>T (p.Ser1099=)
c.3243A>T (p.Ser1081=)
c.*11A>T (n.*11A>T)
c.3219A>T (p.Ser1073=)
c.783A>T
c.2844A>T (p.Ser948=)
n.1759A>T
n.861A>T
c.4977A>T (p.Ser1659=)
c.5019A>T (p.Ser1673=)
c.4998A>T (p.Ser1666=)
c.4992A>T (p.Ser1664=)
c.4971A>T (p.Ser1657=)
c.3882A>T (p.Ser1294=)
c.4980A>T (p.Ser1660=)
n.862A>T
11g.70473412T>CCA475470853SHANK2c.3240A>G (p.Ser1080=)
c.785A>G (n.785A>G)
c.5007A>G (p.Ser1669=)
c.2516A>G
c.3870A>G (p.Ser1290=)
c.3297A>G (p.Ser1099=)
c.3243A>G (p.Ser1081=)
c.*11A>G (n.*11A>G)
c.3219A>G (p.Ser1073=)
c.783A>G
c.2844A>G (p.Ser948=)
n.1759A>G
n.861A>G
c.4977A>G (p.Ser1659=)
c.5019A>G (p.Ser1673=)
c.4998A>G (p.Ser1666=)
c.4992A>G (p.Ser1664=)
c.4971A>G (p.Ser1657=)
c.3882A>G (p.Ser1294=)
c.4980A>G (p.Ser1660=)
n.862A>G
11g.70473412T>GCA475470854SHANK2c.3240A>C (p.Ser1080=)
c.785A>C (n.785A>C)
c.5007A>C (p.Ser1669=)
c.2516A>C
c.3870A>C (p.Ser1290=)
c.3297A>C (p.Ser1099=)
c.3243A>C (p.Ser1081=)
c.*11A>C (n.*11A>C)
c.3219A>C (p.Ser1073=)
c.783A>C
c.2844A>C (p.Ser948=)
n.1759A>C
n.861A>C
c.4977A>C (p.Ser1659=)
c.5019A>C (p.Ser1673=)
c.4998A>C (p.Ser1666=)
c.4992A>C (p.Ser1664=)
c.4971A>C (p.Ser1657=)
c.3882A>C (p.Ser1294=)
c.4980A>C (p.Ser1660=)
n.862A>C
11g.70473413G>ACA381676775SHANK2c.3239C>T (p.Ser1080Leu)
c.784C>T (n.784C>T)
c.5006C>T (p.Ser1669Leu)
c.2515C>T
c.3869C>T (p.Ser1290Leu)
c.3296C>T (p.Ser1099Leu)
c.3242C>T (p.Ser1081Leu)
c.*10C>T (n.*10C>T)
c.3218C>T (p.Ser1073Leu)
c.782C>T
c.2843C>T (p.Ser948Leu)
n.1758C>T
n.860C>T
c.4976C>T (p.Ser1659Leu)
c.5018C>T (p.Ser1673Leu)
c.4997C>T (p.Ser1666Leu)
c.4991C>T (p.Ser1664Leu)
c.4970C>T (p.Ser1657Leu)
c.3881C>T (p.Ser1294Leu)
c.4979C>T (p.Ser1660Leu)
n.861C>T
11g.70473413G>CCA381676777SHANK2c.3239C>G (p.Ser1080Ter)
c.784C>G (n.784C>G)
c.5006C>G (p.Ser1669Ter)
c.2515C>G
c.3869C>G (p.Ser1290Ter)
c.3296C>G (p.Ser1099Ter)
c.3242C>G (p.Ser1081Ter)
c.*10C>G (n.*10C>G)
c.3218C>G (p.Ser1073Ter)
c.782C>G
c.2843C>G (p.Ser948Ter)
n.1758C>G
n.860C>G
c.4976C>G (p.Ser1659Ter)
c.5018C>G (p.Ser1673Ter)
c.4997C>G (p.Ser1666Ter)
c.4991C>G (p.Ser1664Ter)
c.4970C>G (p.Ser1657Ter)
c.3881C>G (p.Ser1294Ter)
c.4979C>G (p.Ser1660Ter)
n.861C>G
11g.70473413G>TCA381676779SHANK2c.3239C>A (p.Ser1080Ter)
c.784C>A (n.784C>A)
c.5006C>A (p.Ser1669Ter)
c.2515C>A
c.3869C>A (p.Ser1290Ter)
c.3296C>A (p.Ser1099Ter)
c.3242C>A (p.Ser1081Ter)
c.*10C>A (n.*10C>A)
c.3218C>A (p.Ser1073Ter)
c.782C>A
c.2843C>A (p.Ser948Ter)
n.1758C>A
n.860C>A
c.4976C>A (p.Ser1659Ter)
c.5018C>A (p.Ser1673Ter)
c.4997C>A (p.Ser1666Ter)
c.4991C>A (p.Ser1664Ter)
c.4970C>A (p.Ser1657Ter)
c.3881C>A (p.Ser1294Ter)
c.4979C>A (p.Ser1660Ter)
n.861C>A
11g.70473414A=CA1981068049SHANK2c.3238T= (p.Ser1080=)
c.783T= (n.783T=)
c.5005T= (p.Ser1669=)
c.2514T=
c.3868T= (p.Ser1290=)
c.3295T= (p.Ser1099=)
c.3241T= (p.Ser1081=)
c.*9T= (n.*9T=)
c.3217T= (p.Ser1073=)
c.781T=
c.2842T= (p.Ser948=)
n.1757T=
n.859T=
c.4975T= (p.Ser1659=)
c.5017T= (p.Ser1673=)
c.4996T= (p.Ser1666=)
c.4990T= (p.Ser1664=)
c.4969T= (p.Ser1657=)
c.3880T= (p.Ser1294=)
c.4978T= (p.Ser1660=)
n.860T=
11g.70473414A>CCA381676783SHANK2c.3238T>G (p.Ser1080Ala)
c.783T>G (n.783T>G)
c.5005T>G (p.Ser1669Ala)
c.2514T>G
c.3868T>G (p.Ser1290Ala)
c.3295T>G (p.Ser1099Ala)
c.3241T>G (p.Ser1081Ala)
c.*9T>G (n.*9T>G)
c.3217T>G (p.Ser1073Ala)
c.781T>G
c.2842T>G (p.Ser948Ala)
n.1757T>G
n.859T>G
c.4975T>G (p.Ser1659Ala)
c.5017T>G (p.Ser1673Ala)
c.4996T>G (p.Ser1666Ala)
c.4990T>G (p.Ser1664Ala)
c.4969T>G (p.Ser1657Ala)
c.3880T>G (p.Ser1294Ala)
c.4978T>G (p.Ser1660Ala)
n.860T>G
11g.70473414A>GCA381676791SHANK2c.3238T>C (p.Ser1080Pro)
c.783T>C (n.783T>C)
c.5005T>C (p.Ser1669Pro)
c.2514T>C
c.3868T>C (p.Ser1290Pro)
c.3295T>C (p.Ser1099Pro)
c.3241T>C (p.Ser1081Pro)
c.*9T>C (n.*9T>C)
c.3217T>C (p.Ser1073Pro)
c.781T>C
c.2842T>C (p.Ser948Pro)
n.1757T>C
n.859T>C
c.4975T>C (p.Ser1659Pro)
c.5017T>C (p.Ser1673Pro)
c.4996T>C (p.Ser1666Pro)
c.4990T>C (p.Ser1664Pro)
c.4969T>C (p.Ser1657Pro)
c.3880T>C (p.Ser1294Pro)
c.4978T>C (p.Ser1660Pro)
n.860T>C
 dbSNP gnomAD v3 gnomAD v4
11g.70473414A>TCA381676794SHANK2c.3238T>A (p.Ser1080Thr)
c.783T>A (n.783T>A)
c.5005T>A (p.Ser1669Thr)
c.2514T>A
c.3868T>A (p.Ser1290Thr)
c.3295T>A (p.Ser1099Thr)
c.3241T>A (p.Ser1081Thr)
c.*9T>A (n.*9T>A)
c.3217T>A (p.Ser1073Thr)
c.781T>A
c.2842T>A (p.Ser948Thr)
n.1757T>A
n.859T>A
c.4975T>A (p.Ser1659Thr)
c.5017T>A (p.Ser1673Thr)
c.4996T>A (p.Ser1666Thr)
c.4990T>A (p.Ser1664Thr)
c.4969T>A (p.Ser1657Thr)
c.3880T>A (p.Ser1294Thr)
c.4978T>A (p.Ser1660Thr)
n.860T>A
11g.70473415G>ACA475470857SHANK2c.3237C>T (p.Ile1079=)
c.782C>T (n.782C>T)
c.5004C>T (p.Ile1668=)
c.2513C>T
c.3867C>T (p.Ile1289=)
c.3294C>T (p.Ile1098=)
c.3240C>T (p.Ile1080=)
c.*8C>T (n.*8C>T)
c.3216C>T (p.Ile1072=)
c.780C>T
c.2841C>T (p.Ile947=)
n.1756C>T
n.858C>T
c.4974C>T (p.Ile1658=)
c.5016C>T (p.Ile1672=)
c.4995C>T (p.Ile1665=)
c.4989C>T (p.Ile1663=)
c.4968C>T (p.Ile1656=)
c.3879C>T (p.Ile1293=)
c.4977C>T (p.Ile1659=)
n.859C>T
11g.70473415G>CCA381676797SHANK2c.3237C>G (p.Ile1079Met)
c.782C>G (n.782C>G)
c.5004C>G (p.Ile1668Met)
c.2513C>G
c.3867C>G (p.Ile1289Met)
c.3294C>G (p.Ile1098Met)
c.3240C>G (p.Ile1080Met)
c.*8C>G (n.*8C>G)
c.3216C>G (p.Ile1072Met)
c.780C>G
c.2841C>G (p.Ile947Met)
n.1756C>G
n.858C>G
c.4974C>G (p.Ile1658Met)
c.5016C>G (p.Ile1672Met)
c.4995C>G (p.Ile1665Met)
c.4989C>G (p.Ile1663Met)
c.4968C>G (p.Ile1656Met)
c.3879C>G (p.Ile1293Met)
c.4977C>G (p.Ile1659Met)
n.859C>G
11g.70473415G>TCA475470858SHANK2c.3237C>A (p.Ile1079=)
c.782C>A (n.782C>A)
c.5004C>A (p.Ile1668=)
c.2513C>A
c.3867C>A (p.Ile1289=)
c.3294C>A (p.Ile1098=)
c.3240C>A (p.Ile1080=)
c.*8C>A (n.*8C>A)
c.3216C>A (p.Ile1072=)
c.780C>A
c.2841C>A (p.Ile947=)
n.1756C>A
n.858C>A
c.4974C>A (p.Ile1658=)
c.5016C>A (p.Ile1672=)
c.4995C>A (p.Ile1665=)
c.4989C>A (p.Ile1663=)
c.4968C>A (p.Ile1656=)
c.3879C>A (p.Ile1293=)
c.4977C>A (p.Ile1659=)
n.859C>A
 gnomAD v4
11g.70473416A>CCA381676800SHANK2c.3236T>G (p.Ile1079Ser)
c.781T>G (n.781T>G)
c.5003T>G (p.Ile1668Ser)
c.2512T>G
c.3866T>G (p.Ile1289Ser)
c.3293T>G (p.Ile1098Ser)
c.3239T>G (p.Ile1080Ser)
c.*7T>G (n.*7T>G)
c.3215T>G (p.Ile1072Ser)
c.779T>G
c.2840T>G (p.Ile947Ser)
n.1755T>G
n.857T>G
c.4973T>G (p.Ile1658Ser)
c.5015T>G (p.Ile1672Ser)
c.4994T>G (p.Ile1665Ser)
c.4988T>G (p.Ile1663Ser)
c.4967T>G (p.Ile1656Ser)
c.3878T>G (p.Ile1293Ser)
c.4976T>G (p.Ile1659Ser)
n.858T>G
 gnomAD v4
11g.70473416A>GCA381676802SHANK2c.3236T>C (p.Ile1079Thr)
c.781T>C (n.781T>C)
c.5003T>C (p.Ile1668Thr)
c.2512T>C
c.3866T>C (p.Ile1289Thr)
c.3293T>C (p.Ile1098Thr)
c.3239T>C (p.Ile1080Thr)
c.*7T>C (n.*7T>C)
c.3215T>C (p.Ile1072Thr)
c.779T>C
c.2840T>C (p.Ile947Thr)
n.1755T>C
n.857T>C
c.4973T>C (p.Ile1658Thr)
c.5015T>C (p.Ile1672Thr)
c.4994T>C (p.Ile1665Thr)
c.4988T>C (p.Ile1663Thr)
c.4967T>C (p.Ile1656Thr)
c.3878T>C (p.Ile1293Thr)
c.4976T>C (p.Ile1659Thr)
n.858T>C
 gnomAD v4
11g.70473416A>TCA381676805SHANK2c.3236T>A (p.Ile1079Asn)
c.781T>A (n.781T>A)
c.5003T>A (p.Ile1668Asn)
c.2512T>A
c.3866T>A (p.Ile1289Asn)
c.3293T>A (p.Ile1098Asn)
c.3239T>A (p.Ile1080Asn)
c.*7T>A (n.*7T>A)
c.3215T>A (p.Ile1072Asn)
c.779T>A
c.2840T>A (p.Ile947Asn)
n.1755T>A
n.857T>A
c.4973T>A (p.Ile1658Asn)
c.5015T>A (p.Ile1672Asn)
c.4994T>A (p.Ile1665Asn)
c.4988T>A (p.Ile1663Asn)
c.4967T>A (p.Ile1656Asn)
c.3878T>A (p.Ile1293Asn)
c.4976T>A (p.Ile1659Asn)
n.858T>A
11g.70473417T>ACA381676808SHANK2c.3235A>T (p.Ile1079Phe)
c.780A>T (n.780A>T)
c.5002A>T (p.Ile1668Phe)
c.2511A>T
c.3865A>T (p.Ile1289Phe)
c.3292A>T (p.Ile1098Phe)
c.3238A>T (p.Ile1080Phe)
c.*6A>T (n.*6A>T)
c.3214A>T (p.Ile1072Phe)
c.778A>T
c.2839A>T (p.Ile947Phe)
n.1754A>T
n.856A>T
c.4972A>T (p.Ile1658Phe)
c.5014A>T (p.Ile1672Phe)
c.4993A>T (p.Ile1665Phe)
c.4987A>T (p.Ile1663Phe)
c.4966A>T (p.Ile1656Phe)
c.3877A>T (p.Ile1293Phe)
c.4975A>T (p.Ile1659Phe)
n.857A>T
11g.70473417T>CCA381676811SHANK2c.3235A>G (p.Ile1079Val)
c.780A>G (n.780A>G)
c.5002A>G (p.Ile1668Val)
c.2511A>G
c.3865A>G (p.Ile1289Val)
c.3292A>G (p.Ile1098Val)
c.3238A>G (p.Ile1080Val)
c.*6A>G (n.*6A>G)
c.3214A>G (p.Ile1072Val)
c.778A>G
c.2839A>G (p.Ile947Val)
n.1754A>G
n.856A>G
c.4972A>G (p.Ile1658Val)
c.5014A>G (p.Ile1672Val)
c.4993A>G (p.Ile1665Val)
c.4987A>G (p.Ile1663Val)
c.4966A>G (p.Ile1656Val)
c.3877A>G (p.Ile1293Val)
c.4975A>G (p.Ile1659Val)
n.857A>G
11g.70473417T>GCA381676814SHANK2c.3235A>C (p.Ile1079Leu)
c.780A>C (n.780A>C)
c.5002A>C (p.Ile1668Leu)
c.2511A>C
c.3865A>C (p.Ile1289Leu)
c.3292A>C (p.Ile1098Leu)
c.3238A>C (p.Ile1080Leu)
c.*6A>C (n.*6A>C)
c.3214A>C (p.Ile1072Leu)
c.778A>C
c.2839A>C (p.Ile947Leu)
n.1754A>C
n.856A>C
c.4972A>C (p.Ile1658Leu)
c.5014A>C (p.Ile1672Leu)
c.4993A>C (p.Ile1665Leu)
c.4987A>C (p.Ile1663Leu)
c.4966A>C (p.Ile1656Leu)
c.3877A>C (p.Ile1293Leu)
c.4975A>C (p.Ile1659Leu)
n.857A>C
11g.70473418G>ACA475470861SHANK2c.3234C>T (p.Thr1078=)
c.779C>T (n.779C>T)
c.5001C>T (p.Thr1667=)
c.2510C>T
c.3864C>T (p.Thr1288=)
c.3291C>T (p.Thr1097=)
c.3237C>T (p.Thr1079=)
c.*5C>T (n.*5C>T)
c.3213C>T (p.Thr1071=)
c.777C>T
c.2838C>T (p.Thr946=)
n.1753C>T
n.855C>T
c.4971C>T (p.Thr1657=)
c.5013C>T (p.Thr1671=)
c.4992C>T (p.Thr1664=)
c.4986C>T (p.Thr1662=)
c.4965C>T (p.Thr1655=)
c.3876C>T (p.Thr1292=)
c.4974C>T (p.Thr1658=)
n.856C>T
 COSMIC COSMIC COSMIC
11g.70473418G>CCA475470862SHANK2c.3234C>G (p.Thr1078=)
c.779C>G (n.779C>G)
c.5001C>G (p.Thr1667=)
c.2510C>G
c.3864C>G (p.Thr1288=)
c.3291C>G (p.Thr1097=)
c.3237C>G (p.Thr1079=)
c.*5C>G (n.*5C>G)
c.3213C>G (p.Thr1071=)
c.777C>G
c.2838C>G (p.Thr946=)
n.1753C>G
n.855C>G
c.4971C>G (p.Thr1657=)
c.5013C>G (p.Thr1671=)
c.4992C>G (p.Thr1664=)
c.4986C>G (p.Thr1662=)
c.4965C>G (p.Thr1655=)
c.3876C>G (p.Thr1292=)
c.4974C>G (p.Thr1658=)
n.856C>G
11g.70473418G>TCA475470863SHANK2c.3234C>A (p.Thr1078=)
c.779C>A (n.779C>A)
c.5001C>A (p.Thr1667=)
c.2510C>A
c.3864C>A (p.Thr1288=)
c.3291C>A (p.Thr1097=)
c.3237C>A (p.Thr1079=)
c.*5C>A (n.*5C>A)
c.3213C>A (p.Thr1071=)
c.777C>A
c.2838C>A (p.Thr946=)
n.1753C>A
n.855C>A
c.4971C>A (p.Thr1657=)
c.5013C>A (p.Thr1671=)
c.4992C>A (p.Thr1664=)
c.4986C>A (p.Thr1662=)
c.4965C>A (p.Thr1655=)
c.3876C>A (p.Thr1292=)
c.4974C>A (p.Thr1658=)
n.856C>A
11g.70473419G>ACA381676826SHANK2c.3233C>T (p.Thr1078Ile)
c.778C>T (n.778C>T)
c.5000C>T (p.Thr1667Ile)
c.2509C>T
c.3863C>T (p.Thr1288Ile)
c.3290C>T (p.Thr1097Ile)
c.3236C>T (p.Thr1079Ile)
c.*4C>T (n.*4C>T)
c.3212C>T (p.Thr1071Ile)
c.776C>T
c.2837C>T (p.Thr946Ile)
n.1752C>T
n.854C>T
c.4970C>T (p.Thr1657Ile)
c.5012C>T (p.Thr1671Ile)
c.4991C>T (p.Thr1664Ile)
c.4985C>T (p.Thr1662Ile)
c.4964C>T (p.Thr1655Ile)
c.3875C>T (p.Thr1292Ile)
c.4973C>T (p.Thr1658Ile)
n.855C>T
11g.70473419G>CCA381676833SHANK2c.3233C>G (p.Thr1078Ser)
c.778C>G (n.778C>G)
c.5000C>G (p.Thr1667Ser)
c.2509C>G
c.3863C>G (p.Thr1288Ser)
c.3290C>G (p.Thr1097Ser)
c.3236C>G (p.Thr1079Ser)
c.*4C>G (n.*4C>G)
c.3212C>G (p.Thr1071Ser)
c.776C>G
c.2837C>G (p.Thr946Ser)
n.1752C>G
n.854C>G
c.4970C>G (p.Thr1657Ser)
c.5012C>G (p.Thr1671Ser)
c.4991C>G (p.Thr1664Ser)
c.4985C>G (p.Thr1662Ser)
c.4964C>G (p.Thr1655Ser)
c.3875C>G (p.Thr1292Ser)
c.4973C>G (p.Thr1658Ser)
n.855C>G
11g.70473419G>TCA381676831SHANK2c.3233C>A (p.Thr1078Asn)
c.778C>A (n.778C>A)
c.5000C>A (p.Thr1667Asn)
c.2509C>A
c.3863C>A (p.Thr1288Asn)
c.3290C>A (p.Thr1097Asn)
c.3236C>A (p.Thr1079Asn)
c.*4C>A (n.*4C>A)
c.3212C>A (p.Thr1071Asn)
c.776C>A
c.2837C>A (p.Thr946Asn)
n.1752C>A
n.854C>A
c.4970C>A (p.Thr1657Asn)
c.5012C>A (p.Thr1671Asn)
c.4991C>A (p.Thr1664Asn)
c.4985C>A (p.Thr1662Asn)
c.4964C>A (p.Thr1655Asn)
c.3875C>A (p.Thr1292Asn)
c.4973C>A (p.Thr1658Asn)
n.855C>A
 gnomAD v4
11g.70473420T>ACA381676835SHANK2c.3232A>T (p.Thr1078Ser)
c.777A>T (n.777A>T)
c.4999A>T (p.Thr1667Ser)
c.2508A>T
c.3862A>T (p.Thr1288Ser)
c.3289A>T (p.Thr1097Ser)
c.3235A>T (p.Thr1079Ser)
c.*3A>T (n.*3A>T)
c.3211A>T (p.Thr1071Ser)
c.775A>T
c.2836A>T (p.Thr946Ser)
n.1751A>T
n.853A>T
c.4969A>T (p.Thr1657Ser)
c.5011A>T (p.Thr1671Ser)
c.4990A>T (p.Thr1664Ser)
c.4984A>T (p.Thr1662Ser)
c.4963A>T (p.Thr1655Ser)
c.3874A>T (p.Thr1292Ser)
c.4972A>T (p.Thr1658Ser)
n.854A>T
11g.70473420T>CCA381676838SHANK2c.3232A>G (p.Thr1078Ala)
c.777A>G (n.777A>G)
c.4999A>G (p.Thr1667Ala)
c.2508A>G
c.3862A>G (p.Thr1288Ala)
c.3289A>G (p.Thr1097Ala)
c.3235A>G (p.Thr1079Ala)
c.*3A>G (n.*3A>G)
c.3211A>G (p.Thr1071Ala)
c.775A>G
c.2836A>G (p.Thr946Ala)
n.1751A>G
n.853A>G
c.4969A>G (p.Thr1657Ala)
c.5011A>G (p.Thr1671Ala)
c.4990A>G (p.Thr1664Ala)
c.4984A>G (p.Thr1662Ala)
c.4963A>G (p.Thr1655Ala)
c.3874A>G (p.Thr1292Ala)
c.4972A>G (p.Thr1658Ala)
n.854A>G
11g.70473420T>GCA381676840SHANK2c.3232A>C (p.Thr1078Pro)
c.777A>C (n.777A>C)
c.4999A>C (p.Thr1667Pro)
c.2508A>C
c.3862A>C (p.Thr1288Pro)
c.3289A>C (p.Thr1097Pro)
c.3235A>C (p.Thr1079Pro)
c.*3A>C (n.*3A>C)
c.3211A>C (p.Thr1071Pro)
c.775A>C
c.2836A>C (p.Thr946Pro)
n.1751A>C
n.853A>C
c.4969A>C (p.Thr1657Pro)
c.5011A>C (p.Thr1671Pro)
c.4990A>C (p.Thr1664Pro)
c.4984A>C (p.Thr1662Pro)
c.4963A>C (p.Thr1655Pro)
c.3874A>C (p.Thr1292Pro)
c.4972A>C (p.Thr1658Pro)
n.854A>C
11g.70473421G>ACA475470864SHANK2c.3231C>T (p.Ser1077=)
c.776C>T (n.776C>T)
c.4998C>T (p.Ser1666=)
c.2507C>T
c.3861C>T (p.Ser1287=)
c.3288C>T (p.Ser1096=)
c.3234C>T (p.Ser1078=)
c.*2C>T (n.*2C>T)
c.3210C>T (p.Ser1070=)
c.774C>T
c.2835C>T (p.Ser945=)
n.1750C>T
n.852C>T
c.4968C>T (p.Ser1656=)
c.5010C>T (p.Ser1670=)
c.4989C>T (p.Ser1663=)
c.4983C>T (p.Ser1661=)
c.4962C>T (p.Ser1654=)
c.3873C>T (p.Ser1291=)
c.4971C>T (p.Ser1657=)
n.853C>T
11g.70473421G>CCA381676842SHANK2c.3231C>G (p.Ser1077Arg)
c.776C>G (n.776C>G)
c.4998C>G (p.Ser1666Arg)
c.2507C>G
c.3861C>G (p.Ser1287Arg)
c.3288C>G (p.Ser1096Arg)
c.3234C>G (p.Ser1078Arg)
c.*2C>G (n.*2C>G)
c.3210C>G (p.Ser1070Arg)
c.774C>G
c.2835C>G (p.Ser945Arg)
n.1750C>G
n.852C>G
c.4968C>G (p.Ser1656Arg)
c.5010C>G (p.Ser1670Arg)
c.4989C>G (p.Ser1663Arg)
c.4983C>G (p.Ser1661Arg)
c.4962C>G (p.Ser1654Arg)
c.3873C>G (p.Ser1291Arg)
c.4971C>G (p.Ser1657Arg)
n.853C>G
11g.70473421G>TCA381676844SHANK2c.3231C>A (p.Ser1077Arg)
c.776C>A (n.776C>A)
c.4998C>A (p.Ser1666Arg)
c.2507C>A
c.3861C>A (p.Ser1287Arg)
c.3288C>A (p.Ser1096Arg)
c.3234C>A (p.Ser1078Arg)
c.*2C>A (n.*2C>A)
c.3210C>A (p.Ser1070Arg)
c.774C>A
c.2835C>A (p.Ser945Arg)
n.1750C>A
n.852C>A
c.4968C>A (p.Ser1656Arg)
c.5010C>A (p.Ser1670Arg)
c.4989C>A (p.Ser1663Arg)
c.4983C>A (p.Ser1661Arg)
c.4962C>A (p.Ser1654Arg)
c.3873C>A (p.Ser1291Arg)
c.4971C>A (p.Ser1657Arg)
n.853C>A
 gnomAD v4
11g.70473422C>ACA381676848SHANK2c.3230G>T (p.Ser1077Ile)
c.775G>T (n.775G>T)
c.4997G>T (p.Ser1666Ile)
c.2506G>T
c.3860G>T (p.Ser1287Ile)
c.3287G>T (p.Ser1096Ile)
c.3233G>T (p.Ser1078Ile)
c.*1G>T (n.*1G>T)
c.3209G>T (p.Ser1070Ile)
c.773G>T
c.2834G>T (p.Ser945Ile)
n.1749G>T
n.851G>T
c.4967G>T (p.Ser1656Ile)
c.5009G>T (p.Ser1670Ile)
c.4988G>T (p.Ser1663Ile)
c.4982G>T (p.Ser1661Ile)
c.4961G>T (p.Ser1654Ile)
c.3872G>T (p.Ser1291Ile)
c.4970G>T (p.Ser1657Ile)
n.852G>T
 gnomAD v4
11g.70473422C>GCA381676851SHANK2c.3230G>C (p.Ser1077Thr)
c.775G>C (n.775G>C)
c.4997G>C (p.Ser1666Thr)
c.2506G>C
c.3860G>C (p.Ser1287Thr)
c.3287G>C (p.Ser1096Thr)
c.3233G>C (p.Ser1078Thr)
c.*1G>C (n.*1G>C)
c.3209G>C (p.Ser1070Thr)
c.773G>C
c.2834G>C (p.Ser945Thr)
n.1749G>C
n.851G>C
c.4967G>C (p.Ser1656Thr)
c.5009G>C (p.Ser1670Thr)
c.4988G>C (p.Ser1663Thr)
c.4982G>C (p.Ser1661Thr)
c.4961G>C (p.Ser1654Thr)
c.3872G>C (p.Ser1291Thr)
c.4970G>C (p.Ser1657Thr)
n.852G>C
11g.70473422C>TCA381676858SHANK2c.3230G>A (p.Ser1077Asn)
c.775G>A (n.775G>A)
c.4997G>A (p.Ser1666Asn)
c.2506G>A
c.3860G>A (p.Ser1287Asn)
c.3287G>A (p.Ser1096Asn)
c.3233G>A (p.Ser1078Asn)
c.*1G>A (n.*1G>A)
c.3209G>A (p.Ser1070Asn)
c.773G>A
c.2834G>A (p.Ser945Asn)
n.1749G>A
n.851G>A
c.4967G>A (p.Ser1656Asn)
c.5009G>A (p.Ser1670Asn)
c.4988G>A (p.Ser1663Asn)
c.4982G>A (p.Ser1661Asn)
c.4961G>A (p.Ser1654Asn)
c.3872G>A (p.Ser1291Asn)
c.4970G>A (p.Ser1657Asn)
n.852G>A
 gnomAD v4
11g.70473423T>ACA381676860SHANK2c.3229A>T (p.Ser1077Cys)
c.774A>T (p.Ter258Cys)
c.4996A>T (p.Ser1666Cys)
c.2505A>T
c.3859A>T (p.Ser1287Cys)
c.3286A>T (p.Ser1096Cys)
c.3232A>T (p.Ser1078Cys)
c.735A>T (p.Ter245Cys)
c.3208A>T (p.Ser1070Cys)
c.772A>T
c.2833A>T (p.Ser945Cys)
n.1748A>T
n.850A>T
c.4966A>T (p.Ser1656Cys)
c.5008A>T (p.Ser1670Cys)
c.4987A>T (p.Ser1663Cys)
c.4981A>T (p.Ser1661Cys)
c.4960A>T (p.Ser1654Cys)
c.3871A>T (p.Ser1291Cys)
c.4969A>T (p.Ser1657Cys)
n.851A>T
11g.70473423T>CCA381676862SHANK2c.3229A>G (p.Ser1077Gly)
c.774A>G (p.Ter258Trp)
c.4996A>G (p.Ser1666Gly)
c.2505A>G
c.3859A>G (p.Ser1287Gly)
c.3286A>G (p.Ser1096Gly)
c.3232A>G (p.Ser1078Gly)
c.735A>G (p.Ter245Trp)
c.3208A>G (p.Ser1070Gly)
c.772A>G
c.2833A>G (p.Ser945Gly)
n.1748A>G
n.850A>G
c.4966A>G (p.Ser1656Gly)
c.5008A>G (p.Ser1670Gly)
c.4987A>G (p.Ser1663Gly)
c.4981A>G (p.Ser1661Gly)
c.4960A>G (p.Ser1654Gly)
c.3871A>G (p.Ser1291Gly)
c.4969A>G (p.Ser1657Gly)
n.851A>G
11g.70473423T>GCA381676863SHANK2c.3229A>C (p.Ser1077Arg)
c.774A>C (p.Ter258Cys)
c.4996A>C (p.Ser1666Arg)
c.2505A>C
c.3859A>C (p.Ser1287Arg)
c.3286A>C (p.Ser1096Arg)
c.3232A>C (p.Ser1078Arg)
c.735A>C (p.Ter245Cys)
c.3208A>C (p.Ser1070Arg)
c.772A>C
c.2833A>C (p.Ser945Arg)
n.1748A>C
n.850A>C
c.4966A>C (p.Ser1656Arg)
c.5008A>C (p.Ser1670Arg)
c.4987A>C (p.Ser1663Arg)
c.4981A>C (p.Ser1661Arg)
c.4960A>C (p.Ser1654Arg)
c.3871A>C (p.Ser1291Arg)
c.4969A>C (p.Ser1657Arg)
n.851A>C
11g.70473424C>ACA381676865SHANK2c.3228G>T (p.Met1076Ile)
c.773G>T (p.Ter258Leu)
c.4995G>T (p.Met1665Ile)
c.2504G>T
c.3858G>T (p.Met1286Ile)
c.3285G>T (p.Met1095Ile)
c.3231G>T (p.Met1077Ile)
c.734G>T (p.Ter245Leu)
c.3207G>T (p.Met1069Ile)
c.771G>T
c.2832G>T (p.Met944Ile)
n.1747G>T
n.849G>T
c.4965G>T (p.Met1655Ile)
c.5007G>T (p.Met1669Ile)
c.4986G>T (p.Met1662Ile)
c.4980G>T (p.Met1660Ile)
c.4959G>T (p.Met1653Ile)
c.3870G>T (p.Met1290Ile)
c.4968G>T (p.Met1656Ile)
n.850G>T
11g.70473424C=CA1981068050SHANK2c.3228G= (p.Met1076=)
c.773G= (p.Ter258=)
c.4995G= (p.Met1665=)
c.2504G=
c.3858G= (p.Met1286=)
c.3285G= (p.Met1095=)
c.3231G= (p.Met1077=)
c.734G= (p.Ter245=)
c.3207G= (p.Met1069=)
c.771G=
c.2832G= (p.Met944=)
n.1747G=
n.849G=
c.4965G= (p.Met1655=)
c.5007G= (p.Met1669=)
c.4986G= (p.Met1662=)
c.4980G= (p.Met1660=)
c.4959G= (p.Met1653=)
c.3870G= (p.Met1290=)
c.4968G= (p.Met1656=)
n.850G=
11g.70473424C>GCA381676867SHANK2c.3228G>C (p.Met1076Ile)
c.773G>C (p.Ter258Ser)
c.4995G>C (p.Met1665Ile)
c.2504G>C
c.3858G>C (p.Met1286Ile)
c.3285G>C (p.Met1095Ile)
c.3231G>C (p.Met1077Ile)
c.734G>C (p.Ter245Ser)
c.3207G>C (p.Met1069Ile)
c.771G>C
c.2832G>C (p.Met944Ile)
n.1747G>C
n.849G>C
c.4965G>C (p.Met1655Ile)
c.5007G>C (p.Met1669Ile)
c.4986G>C (p.Met1662Ile)
c.4980G>C (p.Met1660Ile)
c.4959G>C (p.Met1653Ile)
c.3870G>C (p.Met1290Ile)
c.4968G>C (p.Met1656Ile)
n.850G>C
11g.70473424C>TCA6160789SHANK2c.3228G>A (p.Met1076Ile)
c.773G>A (p.Ter258=)
c.4995G>A (p.Met1665Ile)
c.2504G>A
c.3858G>A (p.Met1286Ile)
c.3285G>A (p.Met1095Ile)
c.3231G>A (p.Met1077Ile)
c.734G>A (p.Ter245=)
c.3207G>A (p.Met1069Ile)
c.771G>A
c.2832G>A (p.Met944Ile)
n.1747G>A
n.849G>A
c.4965G>A (p.Met1655Ile)
c.5007G>A (p.Met1669Ile)
c.4986G>A (p.Met1662Ile)
c.4980G>A (p.Met1660Ile)
c.4959G>A (p.Met1653Ile)
c.3870G>A (p.Met1290Ile)
c.4968G>A (p.Met1656Ile)
n.850G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473425A=CA1981068051SHANK2c.3227T= (p.Met1076=)
c.772T= (p.Ter258=)
c.4994T= (p.Met1665=)
c.2503T=
c.3857T= (p.Met1286=)
c.3284T= (p.Met1095=)
c.3230T= (p.Met1077=)
c.733T= (p.Ter245=)
c.3206T= (p.Met1069=)
c.770T=
c.2831T= (p.Met944=)
n.1746T=
n.848T=
c.4964T= (p.Met1655=)
c.5006T= (p.Met1669=)
c.4985T= (p.Met1662=)
c.4979T= (p.Met1660=)
c.4958T= (p.Met1653=)
c.3869T= (p.Met1290=)
c.4967T= (p.Met1656=)
n.849T=
11g.70473425A>CCA381676873SHANK2c.3227T>G (p.Met1076Arg)
c.772T>G (p.Ter258Gly)
c.4994T>G (p.Met1665Arg)
c.2503T>G
c.3857T>G (p.Met1286Arg)
c.3284T>G (p.Met1095Arg)
c.3230T>G (p.Met1077Arg)
c.733T>G (p.Ter245Gly)
c.3206T>G (p.Met1069Arg)
c.770T>G
c.2831T>G (p.Met944Arg)
n.1746T>G
n.848T>G
c.4964T>G (p.Met1655Arg)
c.5006T>G (p.Met1669Arg)
c.4985T>G (p.Met1662Arg)
c.4979T>G (p.Met1660Arg)
c.4958T>G (p.Met1653Arg)
c.3869T>G (p.Met1290Arg)
c.4967T>G (p.Met1656Arg)
n.849T>G
 dbSNP gnomAD v3 gnomAD v4
11g.70473425A>GCA381676871SHANK2c.3227T>C (p.Met1076Thr)
c.772T>C (p.Ter258Arg)
c.4994T>C (p.Met1665Thr)
c.2503T>C
c.3857T>C (p.Met1286Thr)
c.3284T>C (p.Met1095Thr)
c.3230T>C (p.Met1077Thr)
c.733T>C (p.Ter245Arg)
c.3206T>C (p.Met1069Thr)
c.770T>C
c.2831T>C (p.Met944Thr)
n.1746T>C
n.848T>C
c.4964T>C (p.Met1655Thr)
c.5006T>C (p.Met1669Thr)
c.4985T>C (p.Met1662Thr)
c.4979T>C (p.Met1660Thr)
c.4958T>C (p.Met1653Thr)
c.3869T>C (p.Met1290Thr)
c.4967T>C (p.Met1656Thr)
n.849T>C
 ClinVar gnomAD v4
11g.70473425A>TCA381676874SHANK2c.3227T>A (p.Met1076Lys)
c.772T>A (p.Ter258Arg)
c.4994T>A (p.Met1665Lys)
c.2503T>A
c.3857T>A (p.Met1286Lys)
c.3284T>A (p.Met1095Lys)
c.3230T>A (p.Met1077Lys)
c.733T>A (p.Ter245Arg)
c.3206T>A (p.Met1069Lys)
c.770T>A
c.2831T>A (p.Met944Lys)
n.1746T>A
n.848T>A
c.4964T>A (p.Met1655Lys)
c.5006T>A (p.Met1669Lys)
c.4985T>A (p.Met1662Lys)
c.4979T>A (p.Met1660Lys)
c.4958T>A (p.Met1653Lys)
c.3869T>A (p.Met1290Lys)
c.4967T>A (p.Met1656Lys)
n.849T>A
11g.70473426T>ACA381676876SHANK2c.3226A>T (p.Met1076Leu)
c.771A>T (p.Ser257=)
c.4993A>T (p.Met1665Leu)
c.2502A>T
c.3856A>T (p.Met1286Leu)
c.3283A>T (p.Met1095Leu)
c.3229A>T (p.Met1077Leu)
c.732A>T (p.Ser244=)
c.3205A>T (p.Met1069Leu)
c.769A>T
c.2830A>T (p.Met944Leu)
n.1745A>T
n.847A>T
c.4963A>T (p.Met1655Leu)
c.5005A>T (p.Met1669Leu)
c.4984A>T (p.Met1662Leu)
c.4978A>T (p.Met1660Leu)
c.4957A>T (p.Met1653Leu)
c.3868A>T (p.Met1290Leu)
c.4966A>T (p.Met1656Leu)
n.848A>T
11g.70473426T>CCA381676879SHANK2c.3226A>G (p.Met1076Val)
c.771A>G (p.Ser257=)
c.4993A>G (p.Met1665Val)
c.2502A>G
c.3856A>G (p.Met1286Val)
c.3283A>G (p.Met1095Val)
c.3229A>G (p.Met1077Val)
c.732A>G (p.Ser244=)
c.3205A>G (p.Met1069Val)
c.769A>G
c.2830A>G (p.Met944Val)
n.1745A>G
n.847A>G
c.4963A>G (p.Met1655Val)
c.5005A>G (p.Met1669Val)
c.4984A>G (p.Met1662Val)
c.4978A>G (p.Met1660Val)
c.4957A>G (p.Met1653Val)
c.3868A>G (p.Met1290Val)
c.4966A>G (p.Met1656Val)
n.848A>G
11g.70473426T>GCA381676881SHANK2c.3226A>C (p.Met1076Leu)
c.771A>C (p.Ser257=)
c.4993A>C (p.Met1665Leu)
c.2502A>C
c.3856A>C (p.Met1286Leu)
c.3283A>C (p.Met1095Leu)
c.3229A>C (p.Met1077Leu)
c.732A>C (p.Ser244=)
c.3205A>C (p.Met1069Leu)
c.769A>C
c.2830A>C (p.Met944Leu)
n.1745A>C
n.847A>C
c.4963A>C (p.Met1655Leu)
c.5005A>C (p.Met1669Leu)
c.4984A>C (p.Met1662Leu)
c.4978A>C (p.Met1660Leu)
c.4957A>C (p.Met1653Leu)
c.3868A>C (p.Met1290Leu)
c.4966A>C (p.Met1656Leu)
n.848A>C
11g.70473427G>ACA381676884SHANK2c.3225C>T (p.Ile1075=)
c.770C>T (p.Ser257Leu)
c.4992C>T (p.Ile1664=)
c.2501C>T
c.3855C>T (p.Ile1285=)
c.3282C>T (p.Ile1094=)
c.3228C>T (p.Ile1076=)
c.731C>T (p.Ser244Leu)
c.3204C>T (p.Ile1068=)
c.768C>T
c.2829C>T (p.Ile943=)
n.1744C>T
n.846C>T
c.4962C>T (p.Ile1654=)
c.5004C>T (p.Ile1668=)
c.4983C>T (p.Ile1661=)
c.4977C>T (p.Ile1659=)
c.4956C>T (p.Ile1652=)
c.3867C>T (p.Ile1289=)
c.4965C>T (p.Ile1655=)
n.847C>T
11g.70473427G>CCA381676885SHANK2c.3225C>G (p.Ile1075Met)
c.770C>G (p.Ser257Ter)
c.4992C>G (p.Ile1664Met)
c.2501C>G
c.3855C>G (p.Ile1285Met)
c.3282C>G (p.Ile1094Met)
c.3228C>G (p.Ile1076Met)
c.731C>G (p.Ser244Ter)
c.3204C>G (p.Ile1068Met)
c.768C>G
c.2829C>G (p.Ile943Met)
n.1744C>G
n.846C>G
c.4962C>G (p.Ile1654Met)
c.5004C>G (p.Ile1668Met)
c.4983C>G (p.Ile1661Met)
c.4977C>G (p.Ile1659Met)
c.4956C>G (p.Ile1652Met)
c.3867C>G (p.Ile1289Met)
c.4965C>G (p.Ile1655Met)
n.847C>G
11g.70473427G>TCA381676887SHANK2c.3225C>A (p.Ile1075=)
c.770C>A (p.Ser257Ter)
c.4992C>A (p.Ile1664=)
c.2501C>A
c.3855C>A (p.Ile1285=)
c.3282C>A (p.Ile1094=)
c.3228C>A (p.Ile1076=)
c.731C>A (p.Ser244Ter)
c.3204C>A (p.Ile1068=)
c.768C>A
c.2829C>A (p.Ile943=)
n.1744C>A
n.846C>A
c.4962C>A (p.Ile1654=)
c.5004C>A (p.Ile1668=)
c.4983C>A (p.Ile1661=)
c.4977C>A (p.Ile1659=)
c.4956C>A (p.Ile1652=)
c.3867C>A (p.Ile1289=)
c.4965C>A (p.Ile1655=)
n.847C>A
 gnomAD v4
11g.70473428A=CA1981068052SHANK2c.3224T= (p.Ile1075=)
c.769T= (p.Ser257=)
c.4991T= (p.Ile1664=)
c.2500T=
c.3854T= (p.Ile1285=)
c.3281T= (p.Ile1094=)
c.3227T= (p.Ile1076=)
c.730T= (p.Ser244=)
c.3203T= (p.Ile1068=)
c.767T=
c.2828T= (p.Ile943=)
n.1743T=
n.845T=
c.4961T= (p.Ile1654=)
c.5003T= (p.Ile1668=)
c.4982T= (p.Ile1661=)
c.4976T= (p.Ile1659=)
c.4955T= (p.Ile1652=)
c.3866T= (p.Ile1289=)
c.4964T= (p.Ile1655=)
n.846T=
11g.70473428A>CCA381676900SHANK2c.3224T>G (p.Ile1075Ser)
c.769T>G (p.Ser257Ala)
c.4991T>G (p.Ile1664Ser)
c.2500T>G
c.3854T>G (p.Ile1285Ser)
c.3281T>G (p.Ile1094Ser)
c.3227T>G (p.Ile1076Ser)
c.730T>G (p.Ser244Ala)
c.3203T>G (p.Ile1068Ser)
c.767T>G
c.2828T>G (p.Ile943Ser)
n.1743T>G
n.845T>G
c.4961T>G (p.Ile1654Ser)
c.5003T>G (p.Ile1668Ser)
c.4982T>G (p.Ile1661Ser)
c.4976T>G (p.Ile1659Ser)
c.4955T>G (p.Ile1652Ser)
c.3866T>G (p.Ile1289Ser)
c.4964T>G (p.Ile1655Ser)
n.846T>G
11g.70473428A>GCA214649SHANK2c.3224T>C (p.Ile1075Thr)
c.769T>C (p.Ser257Pro)
c.4991T>C (p.Ile1664Thr)
c.2500T>C
c.3854T>C (p.Ile1285Thr)
c.3281T>C (p.Ile1094Thr)
c.3227T>C (p.Ile1076Thr)
c.730T>C (p.Ser244Pro)
c.3203T>C (p.Ile1068Thr)
c.767T>C
c.2828T>C (p.Ile943Thr)
n.1743T>C
n.845T>C
c.4961T>C (p.Ile1654Thr)
c.5003T>C (p.Ile1668Thr)
c.4982T>C (p.Ile1661Thr)
c.4976T>C (p.Ile1659Thr)
c.4955T>C (p.Ile1652Thr)
c.3866T>C (p.Ile1289Thr)
c.4964T>C (p.Ile1655Thr)
n.846T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473428A>TCA381676889SHANK2c.3224T>A (p.Ile1075Asn)
c.769T>A (p.Ser257Thr)
c.4991T>A (p.Ile1664Asn)
c.2500T>A
c.3854T>A (p.Ile1285Asn)
c.3281T>A (p.Ile1094Asn)
c.3227T>A (p.Ile1076Asn)
c.730T>A (p.Ser244Thr)
c.3203T>A (p.Ile1068Asn)
c.767T>A
c.2828T>A (p.Ile943Asn)
n.1743T>A
n.845T>A
c.4961T>A (p.Ile1654Asn)
c.5003T>A (p.Ile1668Asn)
c.4982T>A (p.Ile1661Asn)
c.4976T>A (p.Ile1659Asn)
c.4955T>A (p.Ile1652Asn)
c.3866T>A (p.Ile1289Asn)
c.4964T>A (p.Ile1655Asn)
n.846T>A
11g.70473429T>ACA381676901SHANK2c.3223A>T (p.Ile1075Phe)
c.768A>T (p.Arg256Ser)
c.4990A>T (p.Ile1664Phe)
c.2499A>T
c.3853A>T (p.Ile1285Phe)
c.3280A>T (p.Ile1094Phe)
c.3226A>T (p.Ile1076Phe)
c.729A>T (p.Arg243Ser)
c.3202A>T (p.Ile1068Phe)
c.766A>T
c.2827A>T (p.Ile943Phe)
n.1742A>T
n.844A>T
c.4960A>T (p.Ile1654Phe)
c.5002A>T (p.Ile1668Phe)
c.4981A>T (p.Ile1661Phe)
c.4975A>T (p.Ile1659Phe)
c.4954A>T (p.Ile1652Phe)
c.3865A>T (p.Ile1289Phe)
c.4963A>T (p.Ile1655Phe)
n.845A>T
11g.70473429T>CCA381676902SHANK2c.3223A>G (p.Ile1075Val)
c.768A>G (p.Arg256=)
c.4990A>G (p.Ile1664Val)
c.2499A>G
c.3853A>G (p.Ile1285Val)
c.3280A>G (p.Ile1094Val)
c.3226A>G (p.Ile1076Val)
c.729A>G (p.Arg243=)
c.3202A>G (p.Ile1068Val)
c.766A>G
c.2827A>G (p.Ile943Val)
n.1742A>G
n.844A>G
c.4960A>G (p.Ile1654Val)
c.5002A>G (p.Ile1668Val)
c.4981A>G (p.Ile1661Val)
c.4975A>G (p.Ile1659Val)
c.4954A>G (p.Ile1652Val)
c.3865A>G (p.Ile1289Val)
c.4963A>G (p.Ile1655Val)
n.845A>G
11g.70473429T>GCA381676903SHANK2c.3223A>C (p.Ile1075Leu)
c.768A>C (p.Arg256Ser)
c.4990A>C (p.Ile1664Leu)
c.2499A>C
c.3853A>C (p.Ile1285Leu)
c.3280A>C (p.Ile1094Leu)
c.3226A>C (p.Ile1076Leu)
c.729A>C (p.Arg243Ser)
c.3202A>C (p.Ile1068Leu)
c.766A>C
c.2827A>C (p.Ile943Leu)
n.1742A>C
n.844A>C
c.4960A>C (p.Ile1654Leu)
c.5002A>C (p.Ile1668Leu)
c.4981A>C (p.Ile1661Leu)
c.4975A>C (p.Ile1659Leu)
c.4954A>C (p.Ile1652Leu)
c.3865A>C (p.Ile1289Leu)
c.4963A>C (p.Ile1655Leu)
n.845A>C
11g.70473430C>ACA381676904SHANK2c.3222G>T (p.Glu1074Asp)
c.767G>T (p.Arg256Ile)
c.4989G>T (p.Glu1663Asp)
c.2498G>T
c.3852G>T (p.Glu1284Asp)
c.3279G>T (p.Glu1093Asp)
c.3225G>T (p.Glu1075Asp)
c.728G>T (p.Arg243Ile)
c.3201G>T (p.Glu1067Asp)
c.765G>T
c.2826G>T (p.Glu942Asp)
n.1741G>T
n.843G>T
c.4959G>T (p.Glu1653Asp)
c.5001G>T (p.Glu1667Asp)
c.4980G>T (p.Glu1660Asp)
c.4974G>T (p.Glu1658Asp)
c.4953G>T (p.Glu1651Asp)
c.3864G>T (p.Glu1288Asp)
c.4962G>T (p.Glu1654Asp)
n.844G>T
11g.70473430C=CA1981068053SHANK2c.3222G= (p.Glu1074=)
c.767G= (p.Arg256=)
c.4989G= (p.Glu1663=)
c.2498G=
c.3852G= (p.Glu1284=)
c.3279G= (p.Glu1093=)
c.3225G= (p.Glu1075=)
c.728G= (p.Arg243=)
c.3201G= (p.Glu1067=)
c.765G=
c.2826G= (p.Glu942=)
n.1741G=
n.843G=
c.4959G= (p.Glu1653=)
c.5001G= (p.Glu1667=)
c.4980G= (p.Glu1660=)
c.4974G= (p.Glu1658=)
c.4953G= (p.Glu1651=)
c.3864G= (p.Glu1288=)
c.4962G= (p.Glu1654=)
n.844G=
11g.70473430C>GCA381676905SHANK2c.3222G>C (p.Glu1074Asp)
c.767G>C (p.Arg256Thr)
c.4989G>C (p.Glu1663Asp)
c.2498G>C
c.3852G>C (p.Glu1284Asp)
c.3279G>C (p.Glu1093Asp)
c.3225G>C (p.Glu1075Asp)
c.728G>C (p.Arg243Thr)
c.3201G>C (p.Glu1067Asp)
c.765G>C
c.2826G>C (p.Glu942Asp)
n.1741G>C
n.843G>C
c.4959G>C (p.Glu1653Asp)
c.5001G>C (p.Glu1667Asp)
c.4980G>C (p.Glu1660Asp)
c.4974G>C (p.Glu1658Asp)
c.4953G>C (p.Glu1651Asp)
c.3864G>C (p.Glu1288Asp)
c.4962G>C (p.Glu1654Asp)
n.844G>C
11g.70473430C>TCA6160790SHANK2c.3222G>A (p.Glu1074=)
c.767G>A (p.Arg256Lys)
c.4989G>A (p.Glu1663=)
c.2498G>A
c.3852G>A (p.Glu1284=)
c.3279G>A (p.Glu1093=)
c.3225G>A (p.Glu1075=)
c.728G>A (p.Arg243Lys)
c.3201G>A (p.Glu1067=)
c.765G>A
c.2826G>A (p.Glu942=)
n.1741G>A
n.843G>A
c.4959G>A (p.Glu1653=)
c.5001G>A (p.Glu1667=)
c.4980G>A (p.Glu1660=)
c.4974G>A (p.Glu1658=)
c.4953G>A (p.Glu1651=)
c.3864G>A (p.Glu1288=)
c.4962G>A (p.Glu1654=)
n.844G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473431T>ACA381676907SHANK2c.3221A>T (p.Glu1074Val)
c.766A>T (p.Arg256Ter)
c.4988A>T (p.Glu1663Val)
c.2497A>T
c.3851A>T (p.Glu1284Val)
c.3278A>T (p.Glu1093Val)
c.3224A>T (p.Glu1075Val)
c.727A>T (p.Arg243Ter)
c.3200A>T (p.Glu1067Val)
c.764A>T
c.2825A>T (p.Glu942Val)
n.1740A>T
n.842A>T
c.4958A>T (p.Glu1653Val)
c.5000A>T (p.Glu1667Val)
c.4979A>T (p.Glu1660Val)
c.4973A>T (p.Glu1658Val)
c.4952A>T (p.Glu1651Val)
c.3863A>T (p.Glu1288Val)
c.4961A>T (p.Glu1654Val)
n.843A>T
11g.70473431T>CCA381676909SHANK2c.3221A>G (p.Glu1074Gly)
c.766A>G (p.Arg256Gly)
c.4988A>G (p.Glu1663Gly)
c.2497A>G
c.3851A>G (p.Glu1284Gly)
c.3278A>G (p.Glu1093Gly)
c.3224A>G (p.Glu1075Gly)
c.727A>G (p.Arg243Gly)
c.3200A>G (p.Glu1067Gly)
c.764A>G
c.2825A>G (p.Glu942Gly)
n.1740A>G
n.842A>G
c.4958A>G (p.Glu1653Gly)
c.5000A>G (p.Glu1667Gly)
c.4979A>G (p.Glu1660Gly)
c.4973A>G (p.Glu1658Gly)
c.4952A>G (p.Glu1651Gly)
c.3863A>G (p.Glu1288Gly)
c.4961A>G (p.Glu1654Gly)
n.843A>G
11g.70473431T>GCA381676908SHANK2c.3221A>C (p.Glu1074Ala)
c.766A>C (p.Arg256=)
c.4988A>C (p.Glu1663Ala)
c.2497A>C
c.3851A>C (p.Glu1284Ala)
c.3278A>C (p.Glu1093Ala)
c.3224A>C (p.Glu1075Ala)
c.727A>C (p.Arg243=)
c.3200A>C (p.Glu1067Ala)
c.764A>C
c.2825A>C (p.Glu942Ala)
n.1740A>C
n.842A>C
c.4958A>C (p.Glu1653Ala)
c.5000A>C (p.Glu1667Ala)
c.4979A>C (p.Glu1660Ala)
c.4973A>C (p.Glu1658Ala)
c.4952A>C (p.Glu1651Ala)
c.3863A>C (p.Glu1288Ala)
c.4961A>C (p.Glu1654Ala)
n.843A>C
11g.70473432C>ACA381676910SHANK2c.3220G>T (p.Glu1074Ter)
c.765G>T (p.Arg255=)
c.4987G>T (p.Glu1663Ter)
c.2496G>T
c.3850G>T (p.Glu1284Ter)
c.3277G>T (p.Glu1093Ter)
c.3223G>T (p.Glu1075Ter)
c.726G>T (p.Arg242=)
c.3199G>T (p.Glu1067Ter)
c.763G>T
c.2824G>T (p.Glu942Ter)
n.1739G>T
n.841G>T
c.4957G>T (p.Glu1653Ter)
c.4999G>T (p.Glu1667Ter)
c.4978G>T (p.Glu1660Ter)
c.4972G>T (p.Glu1658Ter)
c.4951G>T (p.Glu1651Ter)
c.3862G>T (p.Glu1288Ter)
c.4960G>T (p.Glu1654Ter)
n.842G>T
11g.70473432C=CA1981068054SHANK2c.3220G= (p.Glu1074=)
c.765G= (p.Arg255=)
c.4987G= (p.Glu1663=)
c.2496G=
c.3850G= (p.Glu1284=)
c.3277G= (p.Glu1093=)
c.3223G= (p.Glu1075=)
c.726G= (p.Arg242=)
c.3199G= (p.Glu1067=)
c.763G=
c.2824G= (p.Glu942=)
n.1739G=
n.841G=
c.4957G= (p.Glu1653=)
c.4999G= (p.Glu1667=)
c.4978G= (p.Glu1660=)
c.4972G= (p.Glu1658=)
c.4951G= (p.Glu1651=)
c.3862G= (p.Glu1288=)
c.4960G= (p.Glu1654=)
n.842G=
11g.70473432C>GCA381676912SHANK2c.3220G>C (p.Glu1074Gln)
c.765G>C (p.Arg255=)
c.4987G>C (p.Glu1663Gln)
c.2496G>C
c.3850G>C (p.Glu1284Gln)
c.3277G>C (p.Glu1093Gln)
c.3223G>C (p.Glu1075Gln)
c.726G>C (p.Arg242=)
c.3199G>C (p.Glu1067Gln)
c.763G>C
c.2824G>C (p.Glu942Gln)
n.1739G>C
n.841G>C
c.4957G>C (p.Glu1653Gln)
c.4999G>C (p.Glu1667Gln)
c.4978G>C (p.Glu1660Gln)
c.4972G>C (p.Glu1658Gln)
c.4951G>C (p.Glu1651Gln)
c.3862G>C (p.Glu1288Gln)
c.4960G>C (p.Glu1654Gln)
n.842G>C
11g.70473432C>TCA381676914SHANK2c.3220G>A (p.Glu1074Lys)
c.765G>A (p.Arg255=)
c.4987G>A (p.Glu1663Lys)
c.2496G>A
c.3850G>A (p.Glu1284Lys)
c.3277G>A (p.Glu1093Lys)
c.3223G>A (p.Glu1075Lys)
c.726G>A (p.Arg242=)
c.3199G>A (p.Glu1067Lys)
c.763G>A
c.2824G>A (p.Glu942Lys)
n.1739G>A
n.841G>A
c.4957G>A (p.Glu1653Lys)
c.4999G>A (p.Glu1667Lys)
c.4978G>A (p.Glu1660Lys)
c.4972G>A (p.Glu1658Lys)
c.4951G>A (p.Glu1651Lys)
c.3862G>A (p.Glu1288Lys)
c.4960G>A (p.Glu1654Lys)
n.842G>A
 dbSNP
11g.70473433C>ACA381676915SHANK2c.3219G>T (p.Pro1073=)
c.764G>T (p.Arg255Leu)
c.4986G>T (p.Pro1662=)
c.2495G>T
c.3849G>T (p.Pro1283=)
c.3276G>T (p.Pro1092=)
c.3222G>T (p.Pro1074=)
c.725G>T (p.Arg242Leu)
c.3198G>T (p.Pro1066=)
c.762G>T
c.2823G>T (p.Pro941=)
n.1738G>T
n.840G>T
c.4956G>T (p.Pro1652=)
c.4998G>T (p.Pro1666=)
c.4977G>T (p.Pro1659=)
c.4971G>T (p.Pro1657=)
c.4950G>T (p.Pro1650=)
c.3861G>T (p.Pro1287=)
c.4959G>T (p.Pro1653=)
n.841G>T
11g.70473433C=CA1981068055SHANK2c.3219G= (p.Pro1073=)
c.764G= (p.Arg255=)
c.4986G= (p.Pro1662=)
c.2495G=
c.3849G= (p.Pro1283=)
c.3276G= (p.Pro1092=)
c.3222G= (p.Pro1074=)
c.725G= (p.Arg242=)
c.3198G= (p.Pro1066=)
c.762G=
c.2823G= (p.Pro941=)
n.1738G=
n.840G=
c.4956G= (p.Pro1652=)
c.4998G= (p.Pro1666=)
c.4977G= (p.Pro1659=)
c.4971G= (p.Pro1657=)
c.4950G= (p.Pro1650=)
c.3861G= (p.Pro1287=)
c.4959G= (p.Pro1653=)
n.841G=
11g.70473433C>GCA381676916SHANK2c.3219G>C (p.Pro1073=)
c.764G>C (p.Arg255Pro)
c.4986G>C (p.Pro1662=)
c.2495G>C
c.3849G>C (p.Pro1283=)
c.3276G>C (p.Pro1092=)
c.3222G>C (p.Pro1074=)
c.725G>C (p.Arg242Pro)
c.3198G>C (p.Pro1066=)
c.762G>C
c.2823G>C (p.Pro941=)
n.1738G>C
n.840G>C
c.4956G>C (p.Pro1652=)
c.4998G>C (p.Pro1666=)
c.4977G>C (p.Pro1659=)
c.4971G>C (p.Pro1657=)
c.4950G>C (p.Pro1650=)
c.3861G>C (p.Pro1287=)
c.4959G>C (p.Pro1653=)
n.841G>C
11g.70473433C>TCA6160791SHANK2c.3219G>A (p.Pro1073=)
c.764G>A (p.Arg255Gln)
c.4986G>A (p.Pro1662=)
c.2495G>A
c.3849G>A (p.Pro1283=)
c.3276G>A (p.Pro1092=)
c.3222G>A (p.Pro1074=)
c.725G>A (p.Arg242Gln)
c.3198G>A (p.Pro1066=)
c.762G>A
c.2823G>A (p.Pro941=)
n.1738G>A
n.840G>A
c.4956G>A (p.Pro1652=)
c.4998G>A (p.Pro1666=)
c.4977G>A (p.Pro1659=)
c.4971G>A (p.Pro1657=)
c.4950G>A (p.Pro1650=)
c.3861G>A (p.Pro1287=)
c.4959G>A (p.Pro1653=)
n.841G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473433_70473434delCA2573147657SHANK2c.3218_3219del (p.Pro1073ArgfsTer?)
c.763_764del (p.Arg255GlufsTer?)
c.4985_4986del (p.Pro1662ArgfsTer?)
c.2494_2495del
c.3848_3849del (p.Pro1283ArgfsTer?)
c.3275_3276del (p.Pro1092ArgfsTer?)
c.3221_3222del (p.Pro1074ArgfsTer?)
c.724_725del (p.Arg242GlufsTer?)
c.3197_3198del (p.Pro1066ArgfsTer?)
c.761_762del
c.2822_2823del (p.Pro941ArgfsTer?)
n.1737_1738del
n.839_840del
c.4955_4956del (p.Pro1652ArgfsTer?)
c.4997_4998del (p.Pro1666ArgfsTer?)
c.4976_4977del (p.Pro1659ArgfsTer?)
c.4970_4971del (p.Pro1657ArgfsTer?)
c.4949_4950del (p.Pro1650ArgfsTer?)
c.3860_3861del (p.Pro1287ArgfsTer?)
c.4958_4959del (p.Pro1653ArgfsTer?)
n.840_841del
 ClinVar dbSNP
11g.70473434G>ACA6160792SHANK2c.3218C>T (p.Pro1073Leu)
c.763C>T (p.Arg255Trp)
c.4985C>T (p.Pro1662Leu)
c.2494C>T
c.3848C>T (p.Pro1283Leu)
c.3275C>T (p.Pro1092Leu)
c.3221C>T (p.Pro1074Leu)
c.724C>T (p.Arg242Trp)
c.3197C>T (p.Pro1066Leu)
c.761C>T
c.2822C>T (p.Pro941Leu)
n.1737C>T
n.839C>T
c.4955C>T (p.Pro1652Leu)
c.4997C>T (p.Pro1666Leu)
c.4976C>T (p.Pro1659Leu)
c.4970C>T (p.Pro1657Leu)
c.4949C>T (p.Pro1650Leu)
c.3860C>T (p.Pro1287Leu)
c.4958C>T (p.Pro1653Leu)
n.840C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473434G>CCA381676918SHANK2c.3218C>G (p.Pro1073Arg)
c.763C>G (p.Arg255Gly)
c.4985C>G (p.Pro1662Arg)
c.2494C>G
c.3848C>G (p.Pro1283Arg)
c.3275C>G (p.Pro1092Arg)
c.3221C>G (p.Pro1074Arg)
c.724C>G (p.Arg242Gly)
c.3197C>G (p.Pro1066Arg)
c.761C>G
c.2822C>G (p.Pro941Arg)
n.1737C>G
n.839C>G
c.4955C>G (p.Pro1652Arg)
c.4997C>G (p.Pro1666Arg)
c.4976C>G (p.Pro1659Arg)
c.4970C>G (p.Pro1657Arg)
c.4949C>G (p.Pro1650Arg)
c.3860C>G (p.Pro1287Arg)
c.4958C>G (p.Pro1653Arg)
n.840C>G
11g.70473434G=CA1981068056SHANK2c.3218C= (p.Pro1073=)
c.763C= (p.Arg255=)
c.4985C= (p.Pro1662=)
c.2494C=
c.3848C= (p.Pro1283=)
c.3275C= (p.Pro1092=)
c.3221C= (p.Pro1074=)
c.724C= (p.Arg242=)
c.3197C= (p.Pro1066=)
c.761C=
c.2822C= (p.Pro941=)
n.1737C=
n.839C=
c.4955C= (p.Pro1652=)
c.4997C= (p.Pro1666=)
c.4976C= (p.Pro1659=)
c.4970C= (p.Pro1657=)
c.4949C= (p.Pro1650=)
c.3860C= (p.Pro1287=)
c.4958C= (p.Pro1653=)
n.840C=
11g.70473434G>TCA381676920SHANK2c.3218C>A (p.Pro1073Gln)
c.763C>A (p.Arg255=)
c.4985C>A (p.Pro1662Gln)
c.2494C>A
c.3848C>A (p.Pro1283Gln)
c.3275C>A (p.Pro1092Gln)
c.3221C>A (p.Pro1074Gln)
c.724C>A (p.Arg242=)
c.3197C>A (p.Pro1066Gln)
c.761C>A
c.2822C>A (p.Pro941Gln)
n.1737C>A
n.839C>A
c.4955C>A (p.Pro1652Gln)
c.4997C>A (p.Pro1666Gln)
c.4976C>A (p.Pro1659Gln)
c.4970C>A (p.Pro1657Gln)
c.4949C>A (p.Pro1650Gln)
c.3860C>A (p.Pro1287Gln)
c.4958C>A (p.Pro1653Gln)
n.840C>A
 gnomAD v4
11g.70473435G>ACA381676921SHANK2c.3217C>T (p.Pro1073Ser)
c.762C>T (p.Ala254=)
c.4984C>T (p.Pro1662Ser)
c.2493C>T
c.3847C>T (p.Pro1283Ser)
c.3274C>T (p.Pro1092Ser)
c.3220C>T (p.Pro1074Ser)
c.723C>T (p.Ala241=)
c.3196C>T (p.Pro1066Ser)
c.760C>T
c.2821C>T (p.Pro941Ser)
n.1736C>T
n.838C>T
c.4954C>T (p.Pro1652Ser)
c.4996C>T (p.Pro1666Ser)
c.4975C>T (p.Pro1659Ser)
c.4969C>T (p.Pro1657Ser)
c.4948C>T (p.Pro1650Ser)
c.3859C>T (p.Pro1287Ser)
c.4957C>T (p.Pro1653Ser)
n.839C>T
 gnomAD v4
11g.70473435G>CCA381676922SHANK2c.3217C>G (p.Pro1073Ala)
c.762C>G (p.Ala254=)
c.4984C>G (p.Pro1662Ala)
c.2493C>G
c.3847C>G (p.Pro1283Ala)
c.3274C>G (p.Pro1092Ala)
c.3220C>G (p.Pro1074Ala)
c.723C>G (p.Ala241=)
c.3196C>G (p.Pro1066Ala)
c.760C>G
c.2821C>G (p.Pro941Ala)
n.1736C>G
n.838C>G
c.4954C>G (p.Pro1652Ala)
c.4996C>G (p.Pro1666Ala)
c.4975C>G (p.Pro1659Ala)
c.4969C>G (p.Pro1657Ala)
c.4948C>G (p.Pro1650Ala)
c.3859C>G (p.Pro1287Ala)
c.4957C>G (p.Pro1653Ala)
n.839C>G
11g.70473435G>TCA381676923SHANK2c.3217C>A (p.Pro1073Thr)
c.762C>A (p.Ala254=)
c.4984C>A (p.Pro1662Thr)
c.2493C>A
c.3847C>A (p.Pro1283Thr)
c.3274C>A (p.Pro1092Thr)
c.3220C>A (p.Pro1074Thr)
c.723C>A (p.Ala241=)
c.3196C>A (p.Pro1066Thr)
c.760C>A
c.2821C>A (p.Pro941Thr)
n.1736C>A
n.838C>A
c.4954C>A (p.Pro1652Thr)
c.4996C>A (p.Pro1666Thr)
c.4975C>A (p.Pro1659Thr)
c.4969C>A (p.Pro1657Thr)
c.4948C>A (p.Pro1650Thr)
c.3859C>A (p.Pro1287Thr)
c.4957C>A (p.Pro1653Thr)
n.839C>A
11g.70473436G>ACA6160793SHANK2c.3216C>T (p.Ser1072=)
c.761C>T (p.Ala254Val)
c.4983C>T (p.Ser1661=)
c.2492C>T
c.3846C>T (p.Ser1282=)
c.3273C>T (p.Ser1091=)
c.3219C>T (p.Ser1073=)
c.722C>T (p.Ala241Val)
c.3195C>T (p.Ser1065=)
c.759C>T
c.2820C>T (p.Ser940=)
n.1735C>T
n.837C>T
c.4953C>T (p.Ser1651=)
c.4995C>T (p.Ser1665=)
c.4974C>T (p.Ser1658=)
c.4968C>T (p.Ser1656=)
c.4947C>T (p.Ser1649=)
c.3858C>T (p.Ser1286=)
c.4956C>T (p.Ser1652=)
n.838C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473436G>CCA381676928SHANK2c.3216C>G (p.Ser1072Arg)
c.761C>G (p.Ala254Gly)
c.4983C>G (p.Ser1661Arg)
c.2492C>G
c.3846C>G (p.Ser1282Arg)
c.3273C>G (p.Ser1091Arg)
c.3219C>G (p.Ser1073Arg)
c.722C>G (p.Ala241Gly)
c.3195C>G (p.Ser1065Arg)
c.759C>G
c.2820C>G (p.Ser940Arg)
n.1735C>G
n.837C>G
c.4953C>G (p.Ser1651Arg)
c.4995C>G (p.Ser1665Arg)
c.4974C>G (p.Ser1658Arg)
c.4968C>G (p.Ser1656Arg)
c.4947C>G (p.Ser1649Arg)
c.3858C>G (p.Ser1286Arg)
c.4956C>G (p.Ser1652Arg)
n.838C>G
11g.70473436G=CA1981068057SHANK2c.3216C= (p.Ser1072=)
c.761C= (p.Ala254=)
c.4983C= (p.Ser1661=)
c.2492C=
c.3846C= (p.Ser1282=)
c.3273C= (p.Ser1091=)
c.3219C= (p.Ser1073=)
c.722C= (p.Ala241=)
c.3195C= (p.Ser1065=)
c.759C=
c.2820C= (p.Ser940=)
n.1735C=
n.837C=
c.4953C= (p.Ser1651=)
c.4995C= (p.Ser1665=)
c.4974C= (p.Ser1658=)
c.4968C= (p.Ser1656=)
c.4947C= (p.Ser1649=)
c.3858C= (p.Ser1286=)
c.4956C= (p.Ser1652=)
n.838C=
11g.70473436G>TCA381676926SHANK2c.3216C>A (p.Ser1072Arg)
c.761C>A (p.Ala254Asp)
c.4983C>A (p.Ser1661Arg)
c.2492C>A
c.3846C>A (p.Ser1282Arg)
c.3273C>A (p.Ser1091Arg)
c.3219C>A (p.Ser1073Arg)
c.722C>A (p.Ala241Asp)
c.3195C>A (p.Ser1065Arg)
c.759C>A
c.2820C>A (p.Ser940Arg)
n.1735C>A
n.837C>A
c.4953C>A (p.Ser1651Arg)
c.4995C>A (p.Ser1665Arg)
c.4974C>A (p.Ser1658Arg)
c.4968C>A (p.Ser1656Arg)
c.4947C>A (p.Ser1649Arg)
c.3858C>A (p.Ser1286Arg)
c.4956C>A (p.Ser1652Arg)
n.838C>A
 gnomAD v4
11g.70473437C>ACA381676931SHANK2c.3215G>T (p.Ser1072Ile)
c.760G>T (p.Ala254Ser)
c.4982G>T (p.Ser1661Ile)
c.2491G>T
c.3845G>T (p.Ser1282Ile)
c.3272G>T (p.Ser1091Ile)
c.3218G>T (p.Ser1073Ile)
c.721G>T (p.Ala241Ser)
c.3194G>T (p.Ser1065Ile)
c.758G>T
c.2819G>T (p.Ser940Ile)
n.1734G>T
n.836G>T
c.4952G>T (p.Ser1651Ile)
c.4994G>T (p.Ser1665Ile)
c.4973G>T (p.Ser1658Ile)
c.4967G>T (p.Ser1656Ile)
c.4946G>T (p.Ser1649Ile)
c.3857G>T (p.Ser1286Ile)
c.4955G>T (p.Ser1652Ile)
n.837G>T
11g.70473437C>GCA381676937SHANK2c.3215G>C (p.Ser1072Thr)
c.760G>C (p.Ala254Pro)
c.4982G>C (p.Ser1661Thr)
c.2491G>C
c.3845G>C (p.Ser1282Thr)
c.3272G>C (p.Ser1091Thr)
c.3218G>C (p.Ser1073Thr)
c.721G>C (p.Ala241Pro)
c.3194G>C (p.Ser1065Thr)
c.758G>C
c.2819G>C (p.Ser940Thr)
n.1734G>C
n.836G>C
c.4952G>C (p.Ser1651Thr)
c.4994G>C (p.Ser1665Thr)
c.4973G>C (p.Ser1658Thr)
c.4967G>C (p.Ser1656Thr)
c.4946G>C (p.Ser1649Thr)
c.3857G>C (p.Ser1286Thr)
c.4955G>C (p.Ser1652Thr)
n.837G>C
11g.70473437C>TCA381676940SHANK2c.3215G>A (p.Ser1072Asn)
c.760G>A (p.Ala254Thr)
c.4982G>A (p.Ser1661Asn)
c.2491G>A
c.3845G>A (p.Ser1282Asn)
c.3272G>A (p.Ser1091Asn)
c.3218G>A (p.Ser1073Asn)
c.721G>A (p.Ala241Thr)
c.3194G>A (p.Ser1065Asn)
c.758G>A
c.2819G>A (p.Ser940Asn)
n.1734G>A
n.836G>A
c.4952G>A (p.Ser1651Asn)
c.4994G>A (p.Ser1665Asn)
c.4973G>A (p.Ser1658Asn)
c.4967G>A (p.Ser1656Asn)
c.4946G>A (p.Ser1649Asn)
c.3857G>A (p.Ser1286Asn)
c.4955G>A (p.Ser1652Asn)
n.837G>A
11g.70473438T>ACA381676942SHANK2c.3214A>T (p.Ser1072Cys)
c.759A>T (p.Glu253Asp)
c.4981A>T (p.Ser1661Cys)
c.2490A>T
c.3844A>T (p.Ser1282Cys)
c.3271A>T (p.Ser1091Cys)
c.3217A>T (p.Ser1073Cys)
c.720A>T (p.Glu240Asp)
c.3193A>T (p.Ser1065Cys)
c.757A>T
c.2818A>T (p.Ser940Cys)
n.1733A>T
n.835A>T
c.4951A>T (p.Ser1651Cys)
c.4993A>T (p.Ser1665Cys)
c.4972A>T (p.Ser1658Cys)
c.4966A>T (p.Ser1656Cys)
c.4945A>T (p.Ser1649Cys)
c.3856A>T (p.Ser1286Cys)
c.4954A>T (p.Ser1652Cys)
n.836A>T
11g.70473438T>CCA381676944SHANK2c.3214A>G (p.Ser1072Gly)
c.759A>G (p.Glu253=)
c.4981A>G (p.Ser1661Gly)
c.2490A>G
c.3844A>G (p.Ser1282Gly)
c.3271A>G (p.Ser1091Gly)
c.3217A>G (p.Ser1073Gly)
c.720A>G (p.Glu240=)
c.3193A>G (p.Ser1065Gly)
c.757A>G
c.2818A>G (p.Ser940Gly)
n.1733A>G
n.835A>G
c.4951A>G (p.Ser1651Gly)
c.4993A>G (p.Ser1665Gly)
c.4972A>G (p.Ser1658Gly)
c.4966A>G (p.Ser1656Gly)
c.4945A>G (p.Ser1649Gly)
c.3856A>G (p.Ser1286Gly)
c.4954A>G (p.Ser1652Gly)
n.836A>G
11g.70473438T>GCA381676948SHANK2c.3214A>C (p.Ser1072Arg)
c.759A>C (p.Glu253Asp)
c.4981A>C (p.Ser1661Arg)
c.2490A>C
c.3844A>C (p.Ser1282Arg)
c.3271A>C (p.Ser1091Arg)
c.3217A>C (p.Ser1073Arg)
c.720A>C (p.Glu240Asp)
c.3193A>C (p.Ser1065Arg)
c.757A>C
c.2818A>C (p.Ser940Arg)
n.1733A>C
n.835A>C
c.4951A>C (p.Ser1651Arg)
c.4993A>C (p.Ser1665Arg)
c.4972A>C (p.Ser1658Arg)
c.4966A>C (p.Ser1656Arg)
c.4945A>C (p.Ser1649Arg)
c.3856A>C (p.Ser1286Arg)
c.4954A>C (p.Ser1652Arg)
n.836A>C
11g.70473439T>ACA381676951SHANK2c.3213A>T (p.Arg1071Ser)
c.758A>T (p.Glu253Val)
c.4980A>T (p.Arg1660Ser)
c.2489A>T
c.3843A>T (p.Arg1281Ser)
c.3270A>T (p.Arg1090Ser)
c.3216A>T (p.Arg1072Ser)
c.719A>T (p.Glu240Val)
c.3192A>T (p.Arg1064Ser)
c.756A>T
c.2817A>T (p.Arg939Ser)
n.1732A>T
n.834A>T
c.4950A>T (p.Arg1650Ser)
c.4992A>T (p.Arg1664Ser)
c.4971A>T (p.Arg1657Ser)
c.4965A>T (p.Arg1655Ser)
c.4944A>T (p.Arg1648Ser)
c.3855A>T (p.Arg1285Ser)
c.4953A>T (p.Arg1651Ser)
n.835A>T
11g.70473439T>CCA381676954SHANK2c.3213A>G (p.Arg1071=)
c.758A>G (p.Glu253Gly)
c.4980A>G (p.Arg1660=)
c.2489A>G
c.3843A>G (p.Arg1281=)
c.3270A>G (p.Arg1090=)
c.3216A>G (p.Arg1072=)
c.719A>G (p.Glu240Gly)
c.3192A>G (p.Arg1064=)
c.756A>G
c.2817A>G (p.Arg939=)
n.1732A>G
n.834A>G
c.4950A>G (p.Arg1650=)
c.4992A>G (p.Arg1664=)
c.4971A>G (p.Arg1657=)
c.4965A>G (p.Arg1655=)
c.4944A>G (p.Arg1648=)
c.3855A>G (p.Arg1285=)
c.4953A>G (p.Arg1651=)
n.835A>G
 gnomAD v4
11g.70473439T>GCA381676957SHANK2c.3213A>C (p.Arg1071Ser)
c.758A>C (p.Glu253Ala)
c.4980A>C (p.Arg1660Ser)
c.2489A>C
c.3843A>C (p.Arg1281Ser)
c.3270A>C (p.Arg1090Ser)
c.3216A>C (p.Arg1072Ser)
c.719A>C (p.Glu240Ala)
c.3192A>C (p.Arg1064Ser)
c.756A>C
c.2817A>C (p.Arg939Ser)
n.1732A>C
n.834A>C
c.4950A>C (p.Arg1650Ser)
c.4992A>C (p.Arg1664Ser)
c.4971A>C (p.Arg1657Ser)
c.4965A>C (p.Arg1655Ser)
c.4944A>C (p.Arg1648Ser)
c.3855A>C (p.Arg1285Ser)
c.4953A>C (p.Arg1651Ser)
n.835A>C
11g.70473440C>ACA381676960SHANK2c.3213-1G>T (n.3213-1G>T)
c.758-1G>T (n.758-1G>T)
c.4980-1G>T (n.4980-1G>T)
c.2489-1G>T
c.3843-1G>T (n.3843-1G>T)
c.3270-1G>T (n.3270-1G>T)
c.3216-1G>T (n.3216-1G>T)
c.719-1G>T (n.719-1G>T)
c.3192-1G>T (n.3192-1G>T)
c.756-1G>T
c.2817-1G>T (n.2817-1G>T)
n.1731G>T
n.834-1G>T
c.4950-1G>T (n.4950-1G>T)
c.4992-1G>T (n.4992-1G>T)
c.4971-1G>T (n.4971-1G>T)
c.4965-1G>T (n.4965-1G>T)
c.4944-1G>T (n.4944-1G>T)
c.3855-1G>T (n.3855-1G>T)
c.4953-1G>T (n.4953-1G>T)
n.835-1G>T
11g.70473440C>GCA381676963SHANK2c.3213-1G>C (n.3213-1G>C)
c.758-1G>C (n.758-1G>C)
c.4980-1G>C (n.4980-1G>C)
c.2489-1G>C
c.3843-1G>C (n.3843-1G>C)
c.3270-1G>C (n.3270-1G>C)
c.3216-1G>C (n.3216-1G>C)
c.719-1G>C (n.719-1G>C)
c.3192-1G>C (n.3192-1G>C)
c.756-1G>C
c.2817-1G>C (n.2817-1G>C)
n.1731G>C
n.834-1G>C
c.4950-1G>C (n.4950-1G>C)
c.4992-1G>C (n.4992-1G>C)
c.4971-1G>C (n.4971-1G>C)
c.4965-1G>C (n.4965-1G>C)
c.4944-1G>C (n.4944-1G>C)
c.3855-1G>C (n.3855-1G>C)
c.4953-1G>C (n.4953-1G>C)
n.835-1G>C
11g.70473440C>TCA381676964SHANK2c.3213-1G>A (n.3213-1G>A)
c.758-1G>A (n.758-1G>A)
c.4980-1G>A (n.4980-1G>A)
c.2489-1G>A
c.3843-1G>A (n.3843-1G>A)
c.3270-1G>A (n.3270-1G>A)
c.3216-1G>A (n.3216-1G>A)
c.719-1G>A (n.719-1G>A)
c.3192-1G>A (n.3192-1G>A)
c.756-1G>A
c.2817-1G>A (n.2817-1G>A)
n.1731G>A
n.834-1G>A
c.4950-1G>A (n.4950-1G>A)
c.4992-1G>A (n.4992-1G>A)
c.4971-1G>A (n.4971-1G>A)
c.4965-1G>A (n.4965-1G>A)
c.4944-1G>A (n.4944-1G>A)
c.3855-1G>A (n.3855-1G>A)
c.4953-1G>A (n.4953-1G>A)
n.835-1G>A
11g.70473441T>ACA381676967SHANK2c.3213-2A>T (n.3213-2A>T)
c.758-2A>T (n.758-2A>T)
c.4980-2A>T (n.4980-2A>T)
c.2489-2A>T
c.3843-2A>T (n.3843-2A>T)
c.3270-2A>T (n.3270-2A>T)
c.3216-2A>T (n.3216-2A>T)
c.719-2A>T (n.719-2A>T)
c.3192-2A>T (n.3192-2A>T)
c.756-2A>T
c.2817-2A>T (n.2817-2A>T)
n.1730A>T
n.834-2A>T
c.4950-2A>T (n.4950-2A>T)
c.4992-2A>T (n.4992-2A>T)
c.4971-2A>T (n.4971-2A>T)
c.4965-2A>T (n.4965-2A>T)
c.4944-2A>T (n.4944-2A>T)
c.3855-2A>T (n.3855-2A>T)
c.4953-2A>T (n.4953-2A>T)
n.835-2A>T
11g.70473441T>CCA381676965SHANK2c.3213-2A>G (n.3213-2A>G)
c.758-2A>G (n.758-2A>G)
c.4980-2A>G (n.4980-2A>G)
c.2489-2A>G
c.3843-2A>G (n.3843-2A>G)
c.3270-2A>G (n.3270-2A>G)
c.3216-2A>G (n.3216-2A>G)
c.719-2A>G (n.719-2A>G)
c.3192-2A>G (n.3192-2A>G)
c.756-2A>G
c.2817-2A>G (n.2817-2A>G)
n.1730A>G
n.834-2A>G
c.4950-2A>G (n.4950-2A>G)
c.4992-2A>G (n.4992-2A>G)
c.4971-2A>G (n.4971-2A>G)
c.4965-2A>G (n.4965-2A>G)
c.4944-2A>G (n.4944-2A>G)
c.3855-2A>G (n.3855-2A>G)
c.4953-2A>G (n.4953-2A>G)
n.835-2A>G
11g.70473441T>GCA381676966SHANK2c.3213-2A>C (n.3213-2A>C)
c.758-2A>C (n.758-2A>C)
c.4980-2A>C (n.4980-2A>C)
c.2489-2A>C
c.3843-2A>C (n.3843-2A>C)
c.3270-2A>C (n.3270-2A>C)
c.3216-2A>C (n.3216-2A>C)
c.719-2A>C (n.719-2A>C)
c.3192-2A>C (n.3192-2A>C)
c.756-2A>C
c.2817-2A>C (n.2817-2A>C)
n.1730A>C
n.834-2A>C
c.4950-2A>C (n.4950-2A>C)
c.4992-2A>C (n.4992-2A>C)
c.4971-2A>C (n.4971-2A>C)
c.4965-2A>C (n.4965-2A>C)
c.4944-2A>C (n.4944-2A>C)
c.3855-2A>C (n.3855-2A>C)
c.4953-2A>C (n.4953-2A>C)
n.835-2A>C
11g.70473442G>ACA600241158SHANK2c.3213-3C>T (n.3213-3C>T)
c.758-3C>T (n.758-3C>T)
c.4980-3C>T (n.4980-3C>T)
c.2489-3C>T
c.3843-3C>T (n.3843-3C>T)
c.3270-3C>T (n.3270-3C>T)
c.3216-3C>T (n.3216-3C>T)
c.719-3C>T (n.719-3C>T)
c.3192-3C>T (n.3192-3C>T)
c.756-3C>T
c.2817-3C>T (n.2817-3C>T)
n.1729C>T
n.834-3C>T
c.4950-3C>T (n.4950-3C>T)
c.4992-3C>T (n.4992-3C>T)
c.4971-3C>T (n.4971-3C>T)
c.4965-3C>T (n.4965-3C>T)
c.4944-3C>T (n.4944-3C>T)
c.3855-3C>T (n.3855-3C>T)
c.4953-3C>T (n.4953-3C>T)
n.835-3C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473442G=CA1981068058SHANK2c.3213-3C= (n.3213-3C=)
c.758-3C= (n.758-3C=)
c.4980-3C= (n.4980-3C=)
c.2489-3C=
c.3843-3C= (n.3843-3C=)
c.3270-3C= (n.3270-3C=)
c.3216-3C= (n.3216-3C=)
c.719-3C= (n.719-3C=)
c.3192-3C= (n.3192-3C=)
c.756-3C=
c.2817-3C= (n.2817-3C=)
n.1729C=
n.834-3C=
c.4950-3C= (n.4950-3C=)
c.4992-3C= (n.4992-3C=)
c.4971-3C= (n.4971-3C=)
c.4965-3C= (n.4965-3C=)
c.4944-3C= (n.4944-3C=)
c.3855-3C= (n.3855-3C=)
c.4953-3C= (n.4953-3C=)
n.835-3C=
11g.70473442G>TCA2614835682SHANK2c.3213-3C>A (n.3213-3C>A)
c.758-3C>A (n.758-3C>A)
c.4980-3C>A (n.4980-3C>A)
c.2489-3C>A
c.3843-3C>A (n.3843-3C>A)
c.3270-3C>A (n.3270-3C>A)
c.3216-3C>A (n.3216-3C>A)
c.719-3C>A (n.719-3C>A)
c.3192-3C>A (n.3192-3C>A)
c.756-3C>A
c.2817-3C>A (n.2817-3C>A)
n.1729C>A
n.834-3C>A
c.4950-3C>A (n.4950-3C>A)
c.4992-3C>A (n.4992-3C>A)
c.4971-3C>A (n.4971-3C>A)
c.4965-3C>A (n.4965-3C>A)
c.4944-3C>A (n.4944-3C>A)
c.3855-3C>A (n.3855-3C>A)
c.4953-3C>A (n.4953-3C>A)
n.835-3C>A
 gnomAD v4
11g.70473443A>TCA2614835683SHANK2c.3213-4T>A (n.3213-4T>A)
c.758-4T>A (n.758-4T>A)
c.4980-4T>A (n.4980-4T>A)
c.2489-4T>A
c.3843-4T>A (n.3843-4T>A)
c.3270-4T>A (n.3270-4T>A)
c.3216-4T>A (n.3216-4T>A)
c.719-4T>A (n.719-4T>A)
c.3192-4T>A (n.3192-4T>A)
c.756-4T>A
c.2817-4T>A (n.2817-4T>A)
n.1728T>A
n.834-4T>A
c.4950-4T>A (n.4950-4T>A)
c.4992-4T>A (n.4992-4T>A)
c.4971-4T>A (n.4971-4T>A)
c.4965-4T>A (n.4965-4T>A)
c.4944-4T>A (n.4944-4T>A)
c.3855-4T>A (n.3855-4T>A)
c.4953-4T>A (n.4953-4T>A)
n.835-4T>A
 gnomAD v4
11g.70473446C=CA1981068059SHANK2c.3213-7G= (n.3213-7G=)
c.758-7G= (n.758-7G=)
c.4980-7G= (n.4980-7G=)
c.2489-7G=
c.3843-7G= (n.3843-7G=)
c.3270-7G= (n.3270-7G=)
c.3216-7G= (n.3216-7G=)
c.719-7G= (n.719-7G=)
c.3192-7G= (n.3192-7G=)
c.756-7G=
c.2817-7G= (n.2817-7G=)
n.1725G=
n.834-7G=
c.4950-7G= (n.4950-7G=)
c.4992-7G= (n.4992-7G=)
c.4971-7G= (n.4971-7G=)
c.4965-7G= (n.4965-7G=)
c.4944-7G= (n.4944-7G=)
c.3855-7G= (n.3855-7G=)
c.4953-7G= (n.4953-7G=)
n.835-7G=
11g.70473446C>TCA913612235SHANK2c.3213-7G>A (n.3213-7G>A)
c.758-7G>A (n.758-7G>A)
c.4980-7G>A (n.4980-7G>A)
c.2489-7G>A
c.3843-7G>A (n.3843-7G>A)
c.3270-7G>A (n.3270-7G>A)
c.3216-7G>A (n.3216-7G>A)
c.719-7G>A (n.719-7G>A)
c.3192-7G>A (n.3192-7G>A)
c.756-7G>A
c.2817-7G>A (n.2817-7G>A)
n.1725G>A
n.834-7G>A
c.4950-7G>A (n.4950-7G>A)
c.4992-7G>A (n.4992-7G>A)
c.4971-7G>A (n.4971-7G>A)
c.4965-7G>A (n.4965-7G>A)
c.4944-7G>A (n.4944-7G>A)
c.3855-7G>A (n.3855-7G>A)
c.4953-7G>A (n.4953-7G>A)
n.835-7G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70473448G>ACA2614835684SHANK2c.3213-9C>T (n.3213-9C>T)
c.758-9C>T (n.758-9C>T)
c.4980-9C>T (n.4980-9C>T)
c.2489-9C>T
c.3843-9C>T (n.3843-9C>T)
c.3270-9C>T (n.3270-9C>T)
c.3216-9C>T (n.3216-9C>T)
c.719-9C>T (n.719-9C>T)
c.3192-9C>T (n.3192-9C>T)
c.756-9C>T
c.2817-9C>T (n.2817-9C>T)
n.1723C>T
n.834-9C>T
c.4950-9C>T (n.4950-9C>T)
c.4992-9C>T (n.4992-9C>T)
c.4971-9C>T (n.4971-9C>T)
c.4965-9C>T (n.4965-9C>T)
c.4944-9C>T (n.4944-9C>T)
c.3855-9C>T (n.3855-9C>T)
c.4953-9C>T (n.4953-9C>T)
n.835-9C>T
 gnomAD v4
11g.70473448G>TCA2614835685SHANK2c.3213-9C>A (n.3213-9C>A)
c.758-9C>A (n.758-9C>A)
c.4980-9C>A (n.4980-9C>A)
c.2489-9C>A
c.3843-9C>A (n.3843-9C>A)
c.3270-9C>A (n.3270-9C>A)
c.3216-9C>A (n.3216-9C>A)
c.719-9C>A (n.719-9C>A)
c.3192-9C>A (n.3192-9C>A)
c.756-9C>A
c.2817-9C>A (n.2817-9C>A)
n.1723C>A
n.834-9C>A
c.4950-9C>A (n.4950-9C>A)
c.4992-9C>A (n.4992-9C>A)
c.4971-9C>A (n.4971-9C>A)
c.4965-9C>A (n.4965-9C>A)
c.4944-9C>A (n.4944-9C>A)
c.3855-9C>A (n.3855-9C>A)
c.4953-9C>A (n.4953-9C>A)
n.835-9C>A
 gnomAD v4
11g.70473449C>ACA2614835687SHANK2c.3213-10G>T (n.3213-10G>T)
c.758-10G>T (n.758-10G>T)
c.4980-10G>T (n.4980-10G>T)
c.2489-10G>T
c.3843-10G>T (n.3843-10G>T)
c.3270-10G>T (n.3270-10G>T)
c.3216-10G>T (n.3216-10G>T)
c.719-10G>T (n.719-10G>T)
c.3192-10G>T (n.3192-10G>T)
c.756-10G>T
c.2817-10G>T (n.2817-10G>T)
n.1722G>T
n.834-10G>T
c.4950-10G>T (n.4950-10G>T)
c.4992-10G>T (n.4992-10G>T)
c.4971-10G>T (n.4971-10G>T)
c.4965-10G>T (n.4965-10G>T)
c.4944-10G>T (n.4944-10G>T)
c.3855-10G>T (n.3855-10G>T)
c.4953-10G>T (n.4953-10G>T)
n.835-10G>T
 gnomAD v4
11g.70473449C>TCA2614835686SHANK2c.3213-10G>A (n.3213-10G>A)
c.758-10G>A (n.758-10G>A)
c.4980-10G>A (n.4980-10G>A)
c.2489-10G>A
c.3843-10G>A (n.3843-10G>A)
c.3270-10G>A (n.3270-10G>A)
c.3216-10G>A (n.3216-10G>A)
c.719-10G>A (n.719-10G>A)
c.3192-10G>A (n.3192-10G>A)
c.756-10G>A
c.2817-10G>A (n.2817-10G>A)
n.1722G>A
n.834-10G>A
c.4950-10G>A (n.4950-10G>A)
c.4992-10G>A (n.4992-10G>A)
c.4971-10G>A (n.4971-10G>A)
c.4965-10G>A (n.4965-10G>A)
c.4944-10G>A (n.4944-10G>A)
c.3855-10G>A (n.3855-10G>A)
c.4953-10G>A (n.4953-10G>A)
n.835-10G>A
 gnomAD v4
11g.70473450A=CA1981068060SHANK2c.3213-11T= (n.3213-11T=)
c.758-11T= (n.758-11T=)
c.4980-11T= (n.4980-11T=)
c.2489-11T=
c.3843-11T= (n.3843-11T=)
c.3270-11T= (n.3270-11T=)
c.3216-11T= (n.3216-11T=)
c.719-11T= (n.719-11T=)
c.3192-11T= (n.3192-11T=)
c.756-11T=
c.2817-11T= (n.2817-11T=)
n.1721T=
n.834-11T=
c.4950-11T= (n.4950-11T=)
c.4992-11T= (n.4992-11T=)
c.4971-11T= (n.4971-11T=)
c.4965-11T= (n.4965-11T=)
c.4944-11T= (n.4944-11T=)
c.3855-11T= (n.3855-11T=)
c.4953-11T= (n.4953-11T=)
n.835-11T=
11g.70473450A>GCA6160794SHANK2c.3213-11T>C (n.3213-11T>C)
c.758-11T>C (n.758-11T>C)
c.4980-11T>C (n.4980-11T>C)
c.2489-11T>C
c.3843-11T>C (n.3843-11T>C)
c.3270-11T>C (n.3270-11T>C)
c.3216-11T>C (n.3216-11T>C)
c.719-11T>C (n.719-11T>C)
c.3192-11T>C (n.3192-11T>C)
c.756-11T>C
c.2817-11T>C (n.2817-11T>C)
n.1721T>C
n.834-11T>C
c.4950-11T>C (n.4950-11T>C)
c.4992-11T>C (n.4992-11T>C)
c.4971-11T>C (n.4971-11T>C)
c.4965-11T>C (n.4965-11T>C)
c.4944-11T>C (n.4944-11T>C)
c.3855-11T>C (n.3855-11T>C)
c.4953-11T>C (n.4953-11T>C)
n.835-11T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473451A=CA1981068061SHANK2c.3213-12T= (n.3213-12T=)
c.758-12T= (n.758-12T=)
c.4980-12T= (n.4980-12T=)
c.2489-12T=
c.3843-12T= (n.3843-12T=)
c.3270-12T= (n.3270-12T=)
c.3216-12T= (n.3216-12T=)
c.719-12T= (n.719-12T=)
c.3192-12T= (n.3192-12T=)
c.756-12T=
c.2817-12T= (n.2817-12T=)
n.1720T=
n.834-12T=
c.4950-12T= (n.4950-12T=)
c.4992-12T= (n.4992-12T=)
c.4971-12T= (n.4971-12T=)
c.4965-12T= (n.4965-12T=)
c.4944-12T= (n.4944-12T=)
c.3855-12T= (n.3855-12T=)
c.4953-12T= (n.4953-12T=)
n.835-12T=
11g.70473451A>GCA6160795SHANK2c.3213-12T>C (n.3213-12T>C)
c.758-12T>C (n.758-12T>C)
c.4980-12T>C (n.4980-12T>C)
c.2489-12T>C
c.3843-12T>C (n.3843-12T>C)
c.3270-12T>C (n.3270-12T>C)
c.3216-12T>C (n.3216-12T>C)
c.719-12T>C (n.719-12T>C)
c.3192-12T>C (n.3192-12T>C)
c.756-12T>C
c.2817-12T>C (n.2817-12T>C)
n.1720T>C
n.834-12T>C
c.4950-12T>C (n.4950-12T>C)
c.4992-12T>C (n.4992-12T>C)
c.4971-12T>C (n.4971-12T>C)
c.4965-12T>C (n.4965-12T>C)
c.4944-12T>C (n.4944-12T>C)
c.3855-12T>C (n.3855-12T>C)
c.4953-12T>C (n.4953-12T>C)
n.835-12T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473452C>ACA2614835688SHANK2c.3213-13G>T (n.3213-13G>T)
c.758-13G>T (n.758-13G>T)
c.4980-13G>T (n.4980-13G>T)
c.2489-13G>T
c.3843-13G>T (n.3843-13G>T)
c.3270-13G>T (n.3270-13G>T)
c.3216-13G>T (n.3216-13G>T)
c.719-13G>T (n.719-13G>T)
c.3192-13G>T (n.3192-13G>T)
c.756-13G>T
c.2817-13G>T (n.2817-13G>T)
n.1719G>T
n.834-13G>T
c.4950-13G>T (n.4950-13G>T)
c.4992-13G>T (n.4992-13G>T)
c.4971-13G>T (n.4971-13G>T)
c.4965-13G>T (n.4965-13G>T)
c.4944-13G>T (n.4944-13G>T)
c.3855-13G>T (n.3855-13G>T)
c.4953-13G>T (n.4953-13G>T)
n.835-13G>T
 gnomAD v4
11g.70473452C=CA1981068062SHANK2c.3213-13G= (n.3213-13G=)
c.758-13G= (n.758-13G=)
c.4980-13G= (n.4980-13G=)
c.2489-13G=
c.3843-13G= (n.3843-13G=)
c.3270-13G= (n.3270-13G=)
c.3216-13G= (n.3216-13G=)
c.719-13G= (n.719-13G=)
c.3192-13G= (n.3192-13G=)
c.756-13G=
c.2817-13G= (n.2817-13G=)
n.1719G=
n.834-13G=
c.4950-13G= (n.4950-13G=)
c.4992-13G= (n.4992-13G=)
c.4971-13G= (n.4971-13G=)
c.4965-13G= (n.4965-13G=)
c.4944-13G= (n.4944-13G=)
c.3855-13G= (n.3855-13G=)
c.4953-13G= (n.4953-13G=)
n.835-13G=
11g.70473452C>GCA223591917SHANK2c.3213-13G>C (n.3213-13G>C)
c.758-13G>C (n.758-13G>C)
c.4980-13G>C (n.4980-13G>C)
c.2489-13G>C
c.3843-13G>C (n.3843-13G>C)
c.3270-13G>C (n.3270-13G>C)
c.3216-13G>C (n.3216-13G>C)
c.719-13G>C (n.719-13G>C)
c.3192-13G>C (n.3192-13G>C)
c.756-13G>C
c.2817-13G>C (n.2817-13G>C)
n.1719G>C
n.834-13G>C
c.4950-13G>C (n.4950-13G>C)
c.4992-13G>C (n.4992-13G>C)
c.4971-13G>C (n.4971-13G>C)
c.4965-13G>C (n.4965-13G>C)
c.4944-13G>C (n.4944-13G>C)
c.3855-13G>C (n.3855-13G>C)
c.4953-13G>C (n.4953-13G>C)
n.835-13G>C
 dbSNP gnomAD v4
11g.70473454C=CA1981068063SHANK2c.3213-15G= (n.3213-15G=)
c.758-15G= (n.758-15G=)
c.4980-15G= (n.4980-15G=)
c.2489-15G=
c.3843-15G= (n.3843-15G=)
c.3270-15G= (n.3270-15G=)
c.3216-15G= (n.3216-15G=)
c.719-15G= (n.719-15G=)
c.3192-15G= (n.3192-15G=)
c.756-15G=
c.2817-15G= (n.2817-15G=)
n.1717G=
n.834-15G=
c.4950-15G= (n.4950-15G=)
c.4992-15G= (n.4992-15G=)
c.4971-15G= (n.4971-15G=)
c.4965-15G= (n.4965-15G=)
c.4944-15G= (n.4944-15G=)
c.3855-15G= (n.3855-15G=)
c.4953-15G= (n.4953-15G=)
n.835-15G=
11g.70473454C>TCA6160796SHANK2c.3213-15G>A (n.3213-15G>A)
c.758-15G>A (n.758-15G>A)
c.4980-15G>A (n.4980-15G>A)
c.2489-15G>A
c.3843-15G>A (n.3843-15G>A)
c.3270-15G>A (n.3270-15G>A)
c.3216-15G>A (n.3216-15G>A)
c.719-15G>A (n.719-15G>A)
c.3192-15G>A (n.3192-15G>A)
c.756-15G>A
c.2817-15G>A (n.2817-15G>A)
n.1717G>A
n.834-15G>A
c.4950-15G>A (n.4950-15G>A)
c.4992-15G>A (n.4992-15G>A)
c.4971-15G>A (n.4971-15G>A)
c.4965-15G>A (n.4965-15G>A)
c.4944-15G>A (n.4944-15G>A)
c.3855-15G>A (n.3855-15G>A)
c.4953-15G>A (n.4953-15G>A)
n.835-15G>A
 dbSNP ExAC gnomAD v2
11g.70473454_70473456delinsCAGCA1981068064SHANK2c.3213-17_3213-15delinsCTG (n.3213-17_3213-15delinsCTG)
c.758-17_758-15delinsCTG (n.758-17_758-15delinsCTG)
c.4980-17_4980-15delinsCTG (n.4980-17_4980-15delinsCTG)
c.2489-17_2489-15delinsCTG
c.3843-17_3843-15delinsCTG (n.3843-17_3843-15delinsCTG)
c.3270-17_3270-15delinsCTG (n.3270-17_3270-15delinsCTG)
c.3216-17_3216-15delinsCTG (n.3216-17_3216-15delinsCTG)
c.719-17_719-15delinsCTG (n.719-17_719-15delinsCTG)
c.3192-17_3192-15delinsCTG (n.3192-17_3192-15delinsCTG)
c.756-17_756-15delinsCTG
c.2817-17_2817-15delinsCTG (n.2817-17_2817-15delinsCTG)
n.1715_1717delinsCTG
n.834-17_834-15delinsCTG
c.4950-17_4950-15delinsCTG (n.4950-17_4950-15delinsCTG)
c.4992-17_4992-15delinsCTG (n.4992-17_4992-15delinsCTG)
c.4971-17_4971-15delinsCTG (n.4971-17_4971-15delinsCTG)
c.4965-17_4965-15delinsCTG (n.4965-17_4965-15delinsCTG)
c.4944-17_4944-15delinsCTG (n.4944-17_4944-15delinsCTG)
c.3855-17_3855-15delinsCTG (n.3855-17_3855-15delinsCTG)
c.4953-17_4953-15delinsCTG (n.4953-17_4953-15delinsCTG)
n.835-17_835-15delinsCTG
11g.70473455A>GCA2574908644SHANK2c.3213-16T>C (n.3213-16T>C)
c.758-16T>C (n.758-16T>C)
c.4980-16T>C (n.4980-16T>C)
c.2489-16T>C
c.3843-16T>C (n.3843-16T>C)
c.3270-16T>C (n.3270-16T>C)
c.3216-16T>C (n.3216-16T>C)
c.719-16T>C (n.719-16T>C)
c.3192-16T>C (n.3192-16T>C)
c.756-16T>C
c.2817-16T>C (n.2817-16T>C)
n.1716T>C
n.834-16T>C
c.4950-16T>C (n.4950-16T>C)
c.4992-16T>C (n.4992-16T>C)
c.4971-16T>C (n.4971-16T>C)
c.4965-16T>C (n.4965-16T>C)
c.4944-16T>C (n.4944-16T>C)
c.3855-16T>C (n.3855-16T>C)
c.4953-16T>C (n.4953-16T>C)
n.835-16T>C
 gnomAD v4
11g.70473458_70473459delCA600036830SHANK2c.3213-17_3213-16del (n.3213-17_3213-16del)
c.758-17_758-16del (n.758-17_758-16del)
c.4980-17_4980-16del (n.4980-17_4980-16del)
c.2489-17_2489-16del
c.3843-17_3843-16del (n.3843-17_3843-16del)
c.3270-17_3270-16del (n.3270-17_3270-16del)
c.3216-17_3216-16del (n.3216-17_3216-16del)
c.719-17_719-16del (n.719-17_719-16del)
c.3192-17_3192-16del (n.3192-17_3192-16del)
c.756-17_756-16del
c.2817-17_2817-16del (n.2817-17_2817-16del)
n.1715_1716del
n.834-17_834-16del
c.4950-17_4950-16del (n.4950-17_4950-16del)
c.4992-17_4992-16del (n.4992-17_4992-16del)
c.4971-17_4971-16del (n.4971-17_4971-16del)
c.4965-17_4965-16del (n.4965-17_4965-16del)
c.4944-17_4944-16del (n.4944-17_4944-16del)
c.3855-17_3855-16del (n.3855-17_3855-16del)
c.4953-17_4953-16del (n.4953-17_4953-16del)
n.835-17_835-16del
 dbSNP gnomAD v2 gnomAD v4
11g.70473456G>ACA6160797SHANK2c.3213-17C>T (n.3213-17C>T)
c.758-17C>T (n.758-17C>T)
c.4980-17C>T (n.4980-17C>T)
c.2489-17C>T
c.3843-17C>T (n.3843-17C>T)
c.3270-17C>T (n.3270-17C>T)
c.3216-17C>T (n.3216-17C>T)
c.719-17C>T (n.719-17C>T)
c.3192-17C>T (n.3192-17C>T)
c.756-17C>T
c.2817-17C>T (n.2817-17C>T)
n.1715C>T
n.834-17C>T
c.4950-17C>T (n.4950-17C>T)
c.4992-17C>T (n.4992-17C>T)
c.4971-17C>T (n.4971-17C>T)
c.4965-17C>T (n.4965-17C>T)
c.4944-17C>T (n.4944-17C>T)
c.3855-17C>T (n.3855-17C>T)
c.4953-17C>T (n.4953-17C>T)
n.835-17C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473456G>CCA6160798SHANK2c.3213-17C>G (n.3213-17C>G)
c.758-17C>G (n.758-17C>G)
c.4980-17C>G (n.4980-17C>G)
c.2489-17C>G
c.3843-17C>G (n.3843-17C>G)
c.3270-17C>G (n.3270-17C>G)
c.3216-17C>G (n.3216-17C>G)
c.719-17C>G (n.719-17C>G)
c.3192-17C>G (n.3192-17C>G)
c.756-17C>G
c.2817-17C>G (n.2817-17C>G)
n.1715C>G
n.834-17C>G
c.4950-17C>G (n.4950-17C>G)
c.4992-17C>G (n.4992-17C>G)
c.4971-17C>G (n.4971-17C>G)
c.4965-17C>G (n.4965-17C>G)
c.4944-17C>G (n.4944-17C>G)
c.3855-17C>G (n.3855-17C>G)
c.4953-17C>G (n.4953-17C>G)
n.835-17C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473456G=CA1981068065SHANK2c.3213-17C= (n.3213-17C=)
c.758-17C= (n.758-17C=)
c.4980-17C= (n.4980-17C=)
c.2489-17C=
c.3843-17C= (n.3843-17C=)
c.3270-17C= (n.3270-17C=)
c.3216-17C= (n.3216-17C=)
c.719-17C= (n.719-17C=)
c.3192-17C= (n.3192-17C=)
c.756-17C=
c.2817-17C= (n.2817-17C=)
n.1715C=
n.834-17C=
c.4950-17C= (n.4950-17C=)
c.4992-17C= (n.4992-17C=)
c.4971-17C= (n.4971-17C=)
c.4965-17C= (n.4965-17C=)
c.4944-17C= (n.4944-17C=)
c.3855-17C= (n.3855-17C=)
c.4953-17C= (n.4953-17C=)
n.835-17C=

Number of alleles fetched