Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.70473308G>ACA381676365SHANK2c.3344C>T (p.Thr1115Ile)
c.889C>T (n.889C>T)
c.5111C>T (p.Thr1704Ile)
c.2620C>T
c.3974C>T (p.Thr1325Ile)
c.3401C>T (p.Thr1134Ile)
c.3347C>T (p.Thr1116Ile)
c.*115C>T (n.*115C>T)
c.3323C>T (p.Thr1108Ile)
c.887C>T
c.2948C>T (p.Thr983Ile)
n.1863C>T
n.965C>T
c.5081C>T (p.Thr1694Ile)
c.5123C>T (p.Thr1708Ile)
c.5102C>T (p.Thr1701Ile)
c.5096C>T (p.Thr1699Ile)
c.5075C>T (p.Thr1692Ile)
c.3986C>T (p.Thr1329Ile)
c.5084C>T (p.Thr1695Ile)
n.966C>T
 gnomAD v4
11g.70473308G>CCA381676366SHANK2c.3344C>G (p.Thr1115Arg)
c.889C>G (n.889C>G)
c.5111C>G (p.Thr1704Arg)
c.2620C>G
c.3974C>G (p.Thr1325Arg)
c.3401C>G (p.Thr1134Arg)
c.3347C>G (p.Thr1116Arg)
c.*115C>G (n.*115C>G)
c.3323C>G (p.Thr1108Arg)
c.887C>G
c.2948C>G (p.Thr983Arg)
n.1863C>G
n.965C>G
c.5081C>G (p.Thr1694Arg)
c.5123C>G (p.Thr1708Arg)
c.5102C>G (p.Thr1701Arg)
c.5096C>G (p.Thr1699Arg)
c.5075C>G (p.Thr1692Arg)
c.3986C>G (p.Thr1329Arg)
c.5084C>G (p.Thr1695Arg)
n.966C>G
11g.70473308G>TCA381676367SHANK2c.3344C>A (p.Thr1115Lys)
c.889C>A (n.889C>A)
c.5111C>A (p.Thr1704Lys)
c.2620C>A
c.3974C>A (p.Thr1325Lys)
c.3401C>A (p.Thr1134Lys)
c.3347C>A (p.Thr1116Lys)
c.*115C>A (n.*115C>A)
c.3323C>A (p.Thr1108Lys)
c.887C>A
c.2948C>A (p.Thr983Lys)
n.1863C>A
n.965C>A
c.5081C>A (p.Thr1694Lys)
c.5123C>A (p.Thr1708Lys)
c.5102C>A (p.Thr1701Lys)
c.5096C>A (p.Thr1699Lys)
c.5075C>A (p.Thr1692Lys)
c.3986C>A (p.Thr1329Lys)
c.5084C>A (p.Thr1695Lys)
n.966C>A
11g.70473309T>ACA381676370SHANK2c.3343A>T (p.Thr1115Ser)
c.888A>T (n.888A>T)
c.5110A>T (p.Thr1704Ser)
c.2619A>T
c.3973A>T (p.Thr1325Ser)
c.3400A>T (p.Thr1134Ser)
c.3346A>T (p.Thr1116Ser)
c.*114A>T (n.*114A>T)
c.3322A>T (p.Thr1108Ser)
c.886A>T
c.2947A>T (p.Thr983Ser)
n.1862A>T
n.964A>T
c.5080A>T (p.Thr1694Ser)
c.5122A>T (p.Thr1708Ser)
c.5101A>T (p.Thr1701Ser)
c.5095A>T (p.Thr1699Ser)
c.5074A>T (p.Thr1692Ser)
c.3985A>T (p.Thr1329Ser)
c.5083A>T (p.Thr1695Ser)
n.965A>T
11g.70473309T>CCA381676369SHANK2c.3343A>G (p.Thr1115Ala)
c.888A>G (n.888A>G)
c.5110A>G (p.Thr1704Ala)
c.2619A>G
c.3973A>G (p.Thr1325Ala)
c.3400A>G (p.Thr1134Ala)
c.3346A>G (p.Thr1116Ala)
c.*114A>G (n.*114A>G)
c.3322A>G (p.Thr1108Ala)
c.886A>G
c.2947A>G (p.Thr983Ala)
n.1862A>G
n.964A>G
c.5080A>G (p.Thr1694Ala)
c.5122A>G (p.Thr1708Ala)
c.5101A>G (p.Thr1701Ala)
c.5095A>G (p.Thr1699Ala)
c.5074A>G (p.Thr1692Ala)
c.3985A>G (p.Thr1329Ala)
c.5083A>G (p.Thr1695Ala)
n.965A>G
 gnomAD v4
11g.70473309T>GCA381676368SHANK2c.3343A>C (p.Thr1115Pro)
c.888A>C (n.888A>C)
c.5110A>C (p.Thr1704Pro)
c.2619A>C
c.3973A>C (p.Thr1325Pro)
c.3400A>C (p.Thr1134Pro)
c.3346A>C (p.Thr1116Pro)
c.*114A>C (n.*114A>C)
c.3322A>C (p.Thr1108Pro)
c.886A>C
c.2947A>C (p.Thr983Pro)
n.1862A>C
n.964A>C
c.5080A>C (p.Thr1694Pro)
c.5122A>C (p.Thr1708Pro)
c.5101A>C (p.Thr1701Pro)
c.5095A>C (p.Thr1699Pro)
c.5074A>C (p.Thr1692Pro)
c.3985A>C (p.Thr1329Pro)
c.5083A>C (p.Thr1695Pro)
n.965A>C
11g.70473310T>ACA475470739SHANK2c.3342A>T (p.Gly1114=)
c.887A>T (n.887A>T)
c.5109A>T (p.Gly1703=)
c.2618A>T
c.3972A>T (p.Gly1324=)
c.3399A>T (p.Gly1133=)
c.3345A>T (p.Gly1115=)
c.*113A>T (n.*113A>T)
c.3321A>T (p.Gly1107=)
c.885A>T
c.2946A>T (p.Gly982=)
n.1861A>T
n.963A>T
c.5079A>T (p.Gly1693=)
c.5121A>T (p.Gly1707=)
c.5100A>T (p.Gly1700=)
c.5094A>T (p.Gly1698=)
c.5073A>T (p.Gly1691=)
c.3984A>T (p.Gly1328=)
c.5082A>T (p.Gly1694=)
n.964A>T
11g.70473310T>CCA475470740SHANK2c.3342A>G (p.Gly1114=)
c.887A>G (n.887A>G)
c.5109A>G (p.Gly1703=)
c.2618A>G
c.3972A>G (p.Gly1324=)
c.3399A>G (p.Gly1133=)
c.3345A>G (p.Gly1115=)
c.*113A>G (n.*113A>G)
c.3321A>G (p.Gly1107=)
c.885A>G
c.2946A>G (p.Gly982=)
n.1861A>G
n.963A>G
c.5079A>G (p.Gly1693=)
c.5121A>G (p.Gly1707=)
c.5100A>G (p.Gly1700=)
c.5094A>G (p.Gly1698=)
c.5073A>G (p.Gly1691=)
c.3984A>G (p.Gly1328=)
c.5082A>G (p.Gly1694=)
n.964A>G
11g.70473310T>GCA475470741SHANK2c.3342A>C (p.Gly1114=)
c.887A>C (n.887A>C)
c.5109A>C (p.Gly1703=)
c.2618A>C
c.3972A>C (p.Gly1324=)
c.3399A>C (p.Gly1133=)
c.3345A>C (p.Gly1115=)
c.*113A>C (n.*113A>C)
c.3321A>C (p.Gly1107=)
c.885A>C
c.2946A>C (p.Gly982=)
n.1861A>C
n.963A>C
c.5079A>C (p.Gly1693=)
c.5121A>C (p.Gly1707=)
c.5100A>C (p.Gly1700=)
c.5094A>C (p.Gly1698=)
c.5073A>C (p.Gly1691=)
c.3984A>C (p.Gly1328=)
c.5082A>C (p.Gly1694=)
n.964A>C
11g.70473311C>ACA381676371SHANK2c.3341G>T (p.Gly1114Val)
c.886G>T (n.886G>T)
c.5108G>T (p.Gly1703Val)
c.2617G>T
c.3971G>T (p.Gly1324Val)
c.3398G>T (p.Gly1133Val)
c.3344G>T (p.Gly1115Val)
c.*112G>T (n.*112G>T)
c.3320G>T (p.Gly1107Val)
c.884G>T
c.2945G>T (p.Gly982Val)
n.1860G>T
n.962G>T
c.5078G>T (p.Gly1693Val)
c.5120G>T (p.Gly1707Val)
c.5099G>T (p.Gly1700Val)
c.5093G>T (p.Gly1698Val)
c.5072G>T (p.Gly1691Val)
c.3983G>T (p.Gly1328Val)
c.5081G>T (p.Gly1694Val)
n.963G>T
11g.70473311C>GCA381676373SHANK2c.3341G>C (p.Gly1114Ala)
c.886G>C (n.886G>C)
c.5108G>C (p.Gly1703Ala)
c.2617G>C
c.3971G>C (p.Gly1324Ala)
c.3398G>C (p.Gly1133Ala)
c.3344G>C (p.Gly1115Ala)
c.*112G>C (n.*112G>C)
c.3320G>C (p.Gly1107Ala)
c.884G>C
c.2945G>C (p.Gly982Ala)
n.1860G>C
n.962G>C
c.5078G>C (p.Gly1693Ala)
c.5120G>C (p.Gly1707Ala)
c.5099G>C (p.Gly1700Ala)
c.5093G>C (p.Gly1698Ala)
c.5072G>C (p.Gly1691Ala)
c.3983G>C (p.Gly1328Ala)
c.5081G>C (p.Gly1694Ala)
n.963G>C
 gnomAD v4
11g.70473311C>TCA381676372SHANK2c.3341G>A (p.Gly1114Glu)
c.886G>A (n.886G>A)
c.5108G>A (p.Gly1703Glu)
c.2617G>A
c.3971G>A (p.Gly1324Glu)
c.3398G>A (p.Gly1133Glu)
c.3344G>A (p.Gly1115Glu)
c.*112G>A (n.*112G>A)
c.3320G>A (p.Gly1107Glu)
c.884G>A
c.2945G>A (p.Gly982Glu)
n.1860G>A
n.962G>A
c.5078G>A (p.Gly1693Glu)
c.5120G>A (p.Gly1707Glu)
c.5099G>A (p.Gly1700Glu)
c.5093G>A (p.Gly1698Glu)
c.5072G>A (p.Gly1691Glu)
c.3983G>A (p.Gly1328Glu)
c.5081G>A (p.Gly1694Glu)
n.963G>A
11g.70473312C>ACA381676374SHANK2c.3340G>T (p.Gly1114Ter)
c.885G>T (n.885G>T)
c.5107G>T (p.Gly1703Ter)
c.2616G>T
c.3970G>T (p.Gly1324Ter)
c.3397G>T (p.Gly1133Ter)
c.3343G>T (p.Gly1115Ter)
c.*111G>T (n.*111G>T)
c.3319G>T (p.Gly1107Ter)
c.883G>T
c.2944G>T (p.Gly982Ter)
n.1859G>T
n.961G>T
c.5077G>T (p.Gly1693Ter)
c.5119G>T (p.Gly1707Ter)
c.5098G>T (p.Gly1700Ter)
c.5092G>T (p.Gly1698Ter)
c.5071G>T (p.Gly1691Ter)
c.3982G>T (p.Gly1328Ter)
c.5080G>T (p.Gly1694Ter)
n.962G>T
11g.70473312C>GCA381676376SHANK2c.3340G>C (p.Gly1114Arg)
c.885G>C (n.885G>C)
c.5107G>C (p.Gly1703Arg)
c.2616G>C
c.3970G>C (p.Gly1324Arg)
c.3397G>C (p.Gly1133Arg)
c.3343G>C (p.Gly1115Arg)
c.*111G>C (n.*111G>C)
c.3319G>C (p.Gly1107Arg)
c.883G>C
c.2944G>C (p.Gly982Arg)
n.1859G>C
n.961G>C
c.5077G>C (p.Gly1693Arg)
c.5119G>C (p.Gly1707Arg)
c.5098G>C (p.Gly1700Arg)
c.5092G>C (p.Gly1698Arg)
c.5071G>C (p.Gly1691Arg)
c.3982G>C (p.Gly1328Arg)
c.5080G>C (p.Gly1694Arg)
n.962G>C
11g.70473312C>TCA381676375SHANK2c.3340G>A (p.Gly1114Arg)
c.885G>A (n.885G>A)
c.5107G>A (p.Gly1703Arg)
c.2616G>A
c.3970G>A (p.Gly1324Arg)
c.3397G>A (p.Gly1133Arg)
c.3343G>A (p.Gly1115Arg)
c.*111G>A (n.*111G>A)
c.3319G>A (p.Gly1107Arg)
c.883G>A
c.2944G>A (p.Gly982Arg)
n.1859G>A
n.961G>A
c.5077G>A (p.Gly1693Arg)
c.5119G>A (p.Gly1707Arg)
c.5098G>A (p.Gly1700Arg)
c.5092G>A (p.Gly1698Arg)
c.5071G>A (p.Gly1691Arg)
c.3982G>A (p.Gly1328Arg)
c.5080G>A (p.Gly1694Arg)
n.962G>A
11g.70473313T>ACA475470742SHANK2c.3339A>T (p.Ser1113=)
c.884A>T (n.884A>T)
c.5106A>T (p.Ser1702=)
c.2615A>T
c.3969A>T (p.Ser1323=)
c.3396A>T (p.Ser1132=)
c.3342A>T (p.Ser1114=)
c.*110A>T (n.*110A>T)
c.3318A>T (p.Ser1106=)
c.882A>T
c.2943A>T (p.Ser981=)
n.1858A>T
n.960A>T
c.5076A>T (p.Ser1692=)
c.5118A>T (p.Ser1706=)
c.5097A>T (p.Ser1699=)
c.5091A>T (p.Ser1697=)
c.5070A>T (p.Ser1690=)
c.3981A>T (p.Ser1327=)
c.5079A>T (p.Ser1693=)
n.961A>T
11g.70473313T>CCA475470744SHANK2c.3339A>G (p.Ser1113=)
c.884A>G (n.884A>G)
c.5106A>G (p.Ser1702=)
c.2615A>G
c.3969A>G (p.Ser1323=)
c.3396A>G (p.Ser1132=)
c.3342A>G (p.Ser1114=)
c.*110A>G (n.*110A>G)
c.3318A>G (p.Ser1106=)
c.882A>G
c.2943A>G (p.Ser981=)
n.1858A>G
n.960A>G
c.5076A>G (p.Ser1692=)
c.5118A>G (p.Ser1706=)
c.5097A>G (p.Ser1699=)
c.5091A>G (p.Ser1697=)
c.5070A>G (p.Ser1690=)
c.3981A>G (p.Ser1327=)
c.5079A>G (p.Ser1693=)
n.961A>G
11g.70473313T>GCA475470743SHANK2c.3339A>C (p.Ser1113=)
c.884A>C (n.884A>C)
c.5106A>C (p.Ser1702=)
c.2615A>C
c.3969A>C (p.Ser1323=)
c.3396A>C (p.Ser1132=)
c.3342A>C (p.Ser1114=)
c.*110A>C (n.*110A>C)
c.3318A>C (p.Ser1106=)
c.882A>C
c.2943A>C (p.Ser981=)
n.1858A>C
n.960A>C
c.5076A>C (p.Ser1692=)
c.5118A>C (p.Ser1706=)
c.5097A>C (p.Ser1699=)
c.5091A>C (p.Ser1697=)
c.5070A>C (p.Ser1690=)
c.3981A>C (p.Ser1327=)
c.5079A>C (p.Ser1693=)
n.961A>C
11g.70473314G>ACA381676377SHANK2c.3338C>T (p.Ser1113Leu)
c.883C>T (n.883C>T)
c.5105C>T (p.Ser1702Leu)
c.2614C>T
c.3968C>T (p.Ser1323Leu)
c.3395C>T (p.Ser1132Leu)
c.3341C>T (p.Ser1114Leu)
c.*109C>T (n.*109C>T)
c.3317C>T (p.Ser1106Leu)
c.881C>T
c.2942C>T (p.Ser981Leu)
n.1857C>T
n.959C>T
c.5075C>T (p.Ser1692Leu)
c.5117C>T (p.Ser1706Leu)
c.5096C>T (p.Ser1699Leu)
c.5090C>T (p.Ser1697Leu)
c.5069C>T (p.Ser1690Leu)
c.3980C>T (p.Ser1327Leu)
c.5078C>T (p.Ser1693Leu)
n.960C>T
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
11g.70473314G>CCA381676379SHANK2c.3338C>G (p.Ser1113Ter)
c.883C>G (n.883C>G)
c.5105C>G (p.Ser1702Ter)
c.2614C>G
c.3968C>G (p.Ser1323Ter)
c.3395C>G (p.Ser1132Ter)
c.3341C>G (p.Ser1114Ter)
c.*109C>G (n.*109C>G)
c.3317C>G (p.Ser1106Ter)
c.881C>G
c.2942C>G (p.Ser981Ter)
n.1857C>G
n.959C>G
c.5075C>G (p.Ser1692Ter)
c.5117C>G (p.Ser1706Ter)
c.5096C>G (p.Ser1699Ter)
c.5090C>G (p.Ser1697Ter)
c.5069C>G (p.Ser1690Ter)
c.3980C>G (p.Ser1327Ter)
c.5078C>G (p.Ser1693Ter)
n.960C>G
11g.70473314G=CA1981067994SHANK2c.3338C= (p.Ser1113=)
c.883C= (n.883C=)
c.5105C= (p.Ser1702=)
c.2614C=
c.3968C= (p.Ser1323=)
c.3395C= (p.Ser1132=)
c.3341C= (p.Ser1114=)
c.*109C= (n.*109C=)
c.3317C= (p.Ser1106=)
c.881C=
c.2942C= (p.Ser981=)
n.1857C=
n.959C=
c.5075C= (p.Ser1692=)
c.5117C= (p.Ser1706=)
c.5096C= (p.Ser1699=)
c.5090C= (p.Ser1697=)
c.5069C= (p.Ser1690=)
c.3980C= (p.Ser1327=)
c.5078C= (p.Ser1693=)
n.960C=
11g.70473314G>TCA381676378SHANK2c.3338C>A (p.Ser1113Ter)
c.883C>A (n.883C>A)
c.5105C>A (p.Ser1702Ter)
c.2614C>A
c.3968C>A (p.Ser1323Ter)
c.3395C>A (p.Ser1132Ter)
c.3341C>A (p.Ser1114Ter)
c.*109C>A (n.*109C>A)
c.3317C>A (p.Ser1106Ter)
c.881C>A
c.2942C>A (p.Ser981Ter)
n.1857C>A
n.959C>A
c.5075C>A (p.Ser1692Ter)
c.5117C>A (p.Ser1706Ter)
c.5096C>A (p.Ser1699Ter)
c.5090C>A (p.Ser1697Ter)
c.5069C>A (p.Ser1690Ter)
c.3980C>A (p.Ser1327Ter)
c.5078C>A (p.Ser1693Ter)
n.960C>A
11g.70473315A=CA1981067995SHANK2c.3337T= (p.Ser1113=)
c.882T= (n.882T=)
c.5104T= (p.Ser1702=)
c.2613T=
c.3967T= (p.Ser1323=)
c.3394T= (p.Ser1132=)
c.3340T= (p.Ser1114=)
c.*108T= (n.*108T=)
c.3316T= (p.Ser1106=)
c.880T=
c.2941T= (p.Ser981=)
n.1856T=
n.958T=
c.5074T= (p.Ser1692=)
c.5116T= (p.Ser1706=)
c.5095T= (p.Ser1699=)
c.5089T= (p.Ser1697=)
c.5068T= (p.Ser1690=)
c.3979T= (p.Ser1327=)
c.5077T= (p.Ser1693=)
n.959T=
11g.70473315A>CCA381676380SHANK2c.3337T>G (p.Ser1113Ala)
c.882T>G (n.882T>G)
c.5104T>G (p.Ser1702Ala)
c.2613T>G
c.3967T>G (p.Ser1323Ala)
c.3394T>G (p.Ser1132Ala)
c.3340T>G (p.Ser1114Ala)
c.*108T>G (n.*108T>G)
c.3316T>G (p.Ser1106Ala)
c.880T>G
c.2941T>G (p.Ser981Ala)
n.1856T>G
n.958T>G
c.5074T>G (p.Ser1692Ala)
c.5116T>G (p.Ser1706Ala)
c.5095T>G (p.Ser1699Ala)
c.5089T>G (p.Ser1697Ala)
c.5068T>G (p.Ser1690Ala)
c.3979T>G (p.Ser1327Ala)
c.5077T>G (p.Ser1693Ala)
n.959T>G
11g.70473315A>GCA381676381SHANK2c.3337T>C (p.Ser1113Pro)
c.882T>C (n.882T>C)
c.5104T>C (p.Ser1702Pro)
c.2613T>C
c.3967T>C (p.Ser1323Pro)
c.3394T>C (p.Ser1132Pro)
c.3340T>C (p.Ser1114Pro)
c.*108T>C (n.*108T>C)
c.3316T>C (p.Ser1106Pro)
c.880T>C
c.2941T>C (p.Ser981Pro)
n.1856T>C
n.958T>C
c.5074T>C (p.Ser1692Pro)
c.5116T>C (p.Ser1706Pro)
c.5095T>C (p.Ser1699Pro)
c.5089T>C (p.Ser1697Pro)
c.5068T>C (p.Ser1690Pro)
c.3979T>C (p.Ser1327Pro)
c.5077T>C (p.Ser1693Pro)
n.959T>C
11g.70473315A>TCA6160769SHANK2c.3337T>A (p.Ser1113Thr)
c.882T>A (n.882T>A)
c.5104T>A (p.Ser1702Thr)
c.2613T>A
c.3967T>A (p.Ser1323Thr)
c.3394T>A (p.Ser1132Thr)
c.3340T>A (p.Ser1114Thr)
c.*108T>A (n.*108T>A)
c.3316T>A (p.Ser1106Thr)
c.880T>A
c.2941T>A (p.Ser981Thr)
n.1856T>A
n.958T>A
c.5074T>A (p.Ser1692Thr)
c.5116T>A (p.Ser1706Thr)
c.5095T>A (p.Ser1699Thr)
c.5089T>A (p.Ser1697Thr)
c.5068T>A (p.Ser1690Thr)
c.3979T>A (p.Ser1327Thr)
c.5077T>A (p.Ser1693Thr)
n.959T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473316G>ACA6160770SHANK2c.3336C>T (p.Thr1112=)
c.881C>T (n.881C>T)
c.5103C>T (p.Thr1701=)
c.2612C>T
c.3966C>T (p.Thr1322=)
c.3393C>T (p.Thr1131=)
c.3339C>T (p.Thr1113=)
c.*107C>T (n.*107C>T)
c.3315C>T (p.Thr1105=)
c.879C>T
c.2940C>T (p.Thr980=)
n.1855C>T
n.957C>T
c.5073C>T (p.Thr1691=)
c.5115C>T (p.Thr1705=)
c.5094C>T (p.Thr1698=)
c.5088C>T (p.Thr1696=)
c.5067C>T (p.Thr1689=)
c.3978C>T (p.Thr1326=)
c.5076C>T (p.Thr1692=)
n.958C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473316G>CCA475470745SHANK2c.3336C>G (p.Thr1112=)
c.881C>G (n.881C>G)
c.5103C>G (p.Thr1701=)
c.2612C>G
c.3966C>G (p.Thr1322=)
c.3393C>G (p.Thr1131=)
c.3339C>G (p.Thr1113=)
c.*107C>G (n.*107C>G)
c.3315C>G (p.Thr1105=)
c.879C>G
c.2940C>G (p.Thr980=)
n.1855C>G
n.957C>G
c.5073C>G (p.Thr1691=)
c.5115C>G (p.Thr1705=)
c.5094C>G (p.Thr1698=)
c.5088C>G (p.Thr1696=)
c.5067C>G (p.Thr1689=)
c.3978C>G (p.Thr1326=)
c.5076C>G (p.Thr1692=)
n.958C>G
11g.70473316G=CA1981067996SHANK2c.3336C= (p.Thr1112=)
c.881C= (n.881C=)
c.5103C= (p.Thr1701=)
c.2612C=
c.3966C= (p.Thr1322=)
c.3393C= (p.Thr1131=)
c.3339C= (p.Thr1113=)
c.*107C= (n.*107C=)
c.3315C= (p.Thr1105=)
c.879C=
c.2940C= (p.Thr980=)
n.1855C=
n.957C=
c.5073C= (p.Thr1691=)
c.5115C= (p.Thr1705=)
c.5094C= (p.Thr1698=)
c.5088C= (p.Thr1696=)
c.5067C= (p.Thr1689=)
c.3978C= (p.Thr1326=)
c.5076C= (p.Thr1692=)
n.958C=
11g.70473316G>TCA475470746SHANK2c.3336C>A (p.Thr1112=)
c.881C>A (n.881C>A)
c.5103C>A (p.Thr1701=)
c.2612C>A
c.3966C>A (p.Thr1322=)
c.3393C>A (p.Thr1131=)
c.3339C>A (p.Thr1113=)
c.*107C>A (n.*107C>A)
c.3315C>A (p.Thr1105=)
c.879C>A
c.2940C>A (p.Thr980=)
n.1855C>A
n.957C>A
c.5073C>A (p.Thr1691=)
c.5115C>A (p.Thr1705=)
c.5094C>A (p.Thr1698=)
c.5088C>A (p.Thr1696=)
c.5067C>A (p.Thr1689=)
c.3978C>A (p.Thr1326=)
c.5076C>A (p.Thr1692=)
n.958C>A
11g.70473317G>ACA6160771SHANK2c.3335C>T (p.Thr1112Ile)
c.880C>T (n.880C>T)
c.5102C>T (p.Thr1701Ile)
c.2611C>T
c.3965C>T (p.Thr1322Ile)
c.3392C>T (p.Thr1131Ile)
c.3338C>T (p.Thr1113Ile)
c.*106C>T (n.*106C>T)
c.3314C>T (p.Thr1105Ile)
c.878C>T
c.2939C>T (p.Thr980Ile)
n.1854C>T
n.956C>T
c.5072C>T (p.Thr1691Ile)
c.5114C>T (p.Thr1705Ile)
c.5093C>T (p.Thr1698Ile)
c.5087C>T (p.Thr1696Ile)
c.5066C>T (p.Thr1689Ile)
c.3977C>T (p.Thr1326Ile)
c.5075C>T (p.Thr1692Ile)
n.957C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473317G>CCA381676382SHANK2c.3335C>G (p.Thr1112Ser)
c.880C>G (n.880C>G)
c.5102C>G (p.Thr1701Ser)
c.2611C>G
c.3965C>G (p.Thr1322Ser)
c.3392C>G (p.Thr1131Ser)
c.3338C>G (p.Thr1113Ser)
c.*106C>G (n.*106C>G)
c.3314C>G (p.Thr1105Ser)
c.878C>G
c.2939C>G (p.Thr980Ser)
n.1854C>G
n.956C>G
c.5072C>G (p.Thr1691Ser)
c.5114C>G (p.Thr1705Ser)
c.5093C>G (p.Thr1698Ser)
c.5087C>G (p.Thr1696Ser)
c.5066C>G (p.Thr1689Ser)
c.3977C>G (p.Thr1326Ser)
c.5075C>G (p.Thr1692Ser)
n.957C>G
11g.70473317G=CA1981067997SHANK2c.3335C= (p.Thr1112=)
c.880C= (n.880C=)
c.5102C= (p.Thr1701=)
c.2611C=
c.3965C= (p.Thr1322=)
c.3392C= (p.Thr1131=)
c.3338C= (p.Thr1113=)
c.*106C= (n.*106C=)
c.3314C= (p.Thr1105=)
c.878C=
c.2939C= (p.Thr980=)
n.1854C=
n.956C=
c.5072C= (p.Thr1691=)
c.5114C= (p.Thr1705=)
c.5093C= (p.Thr1698=)
c.5087C= (p.Thr1696=)
c.5066C= (p.Thr1689=)
c.3977C= (p.Thr1326=)
c.5075C= (p.Thr1692=)
n.957C=
11g.70473317G>TCA381676383SHANK2c.3335C>A (p.Thr1112Asn)
c.880C>A (n.880C>A)
c.5102C>A (p.Thr1701Asn)
c.2611C>A
c.3965C>A (p.Thr1322Asn)
c.3392C>A (p.Thr1131Asn)
c.3338C>A (p.Thr1113Asn)
c.*106C>A (n.*106C>A)
c.3314C>A (p.Thr1105Asn)
c.878C>A
c.2939C>A (p.Thr980Asn)
n.1854C>A
n.956C>A
c.5072C>A (p.Thr1691Asn)
c.5114C>A (p.Thr1705Asn)
c.5093C>A (p.Thr1698Asn)
c.5087C>A (p.Thr1696Asn)
c.5066C>A (p.Thr1689Asn)
c.3977C>A (p.Thr1326Asn)
c.5075C>A (p.Thr1692Asn)
n.957C>A
11g.70473318T>ACA381676384SHANK2c.3334A>T (p.Thr1112Ser)
c.879A>T (n.879A>T)
c.5101A>T (p.Thr1701Ser)
c.2610A>T
c.3964A>T (p.Thr1322Ser)
c.3391A>T (p.Thr1131Ser)
c.3337A>T (p.Thr1113Ser)
c.*105A>T (n.*105A>T)
c.3313A>T (p.Thr1105Ser)
c.877A>T
c.2938A>T (p.Thr980Ser)
n.1853A>T
n.955A>T
c.5071A>T (p.Thr1691Ser)
c.5113A>T (p.Thr1705Ser)
c.5092A>T (p.Thr1698Ser)
c.5086A>T (p.Thr1696Ser)
c.5065A>T (p.Thr1689Ser)
c.3976A>T (p.Thr1326Ser)
c.5074A>T (p.Thr1692Ser)
n.956A>T
11g.70473318T>CCA381676385SHANK2c.3334A>G (p.Thr1112Ala)
c.879A>G (n.879A>G)
c.5101A>G (p.Thr1701Ala)
c.2610A>G
c.3964A>G (p.Thr1322Ala)
c.3391A>G (p.Thr1131Ala)
c.3337A>G (p.Thr1113Ala)
c.*105A>G (n.*105A>G)
c.3313A>G (p.Thr1105Ala)
c.877A>G
c.2938A>G (p.Thr980Ala)
n.1853A>G
n.955A>G
c.5071A>G (p.Thr1691Ala)
c.5113A>G (p.Thr1705Ala)
c.5092A>G (p.Thr1698Ala)
c.5086A>G (p.Thr1696Ala)
c.5065A>G (p.Thr1689Ala)
c.3976A>G (p.Thr1326Ala)
c.5074A>G (p.Thr1692Ala)
n.956A>G
11g.70473318T>GCA381676386SHANK2c.3334A>C (p.Thr1112Pro)
c.879A>C (n.879A>C)
c.5101A>C (p.Thr1701Pro)
c.2610A>C
c.3964A>C (p.Thr1322Pro)
c.3391A>C (p.Thr1131Pro)
c.3337A>C (p.Thr1113Pro)
c.*105A>C (n.*105A>C)
c.3313A>C (p.Thr1105Pro)
c.877A>C
c.2938A>C (p.Thr980Pro)
n.1853A>C
n.955A>C
c.5071A>C (p.Thr1691Pro)
c.5113A>C (p.Thr1705Pro)
c.5092A>C (p.Thr1698Pro)
c.5086A>C (p.Thr1696Pro)
c.5065A>C (p.Thr1689Pro)
c.3976A>C (p.Thr1326Pro)
c.5074A>C (p.Thr1692Pro)
n.956A>C
11g.70473319C>ACA381676387SHANK2c.3333G>T (p.Arg1111Ser)
c.878G>T (n.878G>T)
c.5100G>T (p.Arg1700Ser)
c.2609G>T
c.3963G>T (p.Arg1321Ser)
c.3390G>T (p.Arg1130Ser)
c.3336G>T (p.Arg1112Ser)
c.*104G>T (n.*104G>T)
c.3312G>T (p.Arg1104Ser)
c.876G>T
c.2937G>T (p.Arg979Ser)
n.1852G>T
n.954G>T
c.5070G>T (p.Arg1690Ser)
c.5112G>T (p.Arg1704Ser)
c.5091G>T (p.Arg1697Ser)
c.5085G>T (p.Arg1695Ser)
c.5064G>T (p.Arg1688Ser)
c.3975G>T (p.Arg1325Ser)
c.5073G>T (p.Arg1691Ser)
n.955G>T
11g.70473319C=CA1981067998SHANK2c.3333G= (p.Arg1111=)
c.878G= (n.878G=)
c.5100G= (p.Arg1700=)
c.2609G=
c.3963G= (p.Arg1321=)
c.3390G= (p.Arg1130=)
c.3336G= (p.Arg1112=)
c.*104G= (n.*104G=)
c.3312G= (p.Arg1104=)
c.876G=
c.2937G= (p.Arg979=)
n.1852G=
n.954G=
c.5070G= (p.Arg1690=)
c.5112G= (p.Arg1704=)
c.5091G= (p.Arg1697=)
c.5085G= (p.Arg1695=)
c.5064G= (p.Arg1688=)
c.3975G= (p.Arg1325=)
c.5073G= (p.Arg1691=)
n.955G=
11g.70473319C>GCA381676388SHANK2c.3333G>C (p.Arg1111Ser)
c.878G>C (n.878G>C)
c.5100G>C (p.Arg1700Ser)
c.2609G>C
c.3963G>C (p.Arg1321Ser)
c.3390G>C (p.Arg1130Ser)
c.3336G>C (p.Arg1112Ser)
c.*104G>C (n.*104G>C)
c.3312G>C (p.Arg1104Ser)
c.876G>C
c.2937G>C (p.Arg979Ser)
n.1852G>C
n.954G>C
c.5070G>C (p.Arg1690Ser)
c.5112G>C (p.Arg1704Ser)
c.5091G>C (p.Arg1697Ser)
c.5085G>C (p.Arg1695Ser)
c.5064G>C (p.Arg1688Ser)
c.3975G>C (p.Arg1325Ser)
c.5073G>C (p.Arg1691Ser)
n.955G>C
11g.70473319C>TCA475470747SHANK2c.3333G>A (p.Arg1111=)
c.878G>A (n.878G>A)
c.5100G>A (p.Arg1700=)
c.2609G>A
c.3963G>A (p.Arg1321=)
c.3390G>A (p.Arg1130=)
c.3336G>A (p.Arg1112=)
c.*104G>A (n.*104G>A)
c.3312G>A (p.Arg1104=)
c.876G>A
c.2937G>A (p.Arg979=)
n.1852G>A
n.954G>A
c.5070G>A (p.Arg1690=)
c.5112G>A (p.Arg1704=)
c.5091G>A (p.Arg1697=)
c.5085G>A (p.Arg1695=)
c.5064G>A (p.Arg1688=)
c.3975G>A (p.Arg1325=)
c.5073G>A (p.Arg1691=)
n.955G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70473320C>ACA381676389SHANK2c.3332G>T (p.Arg1111Met)
c.877G>T (n.877G>T)
c.5099G>T (p.Arg1700Met)
c.2608G>T
c.3962G>T (p.Arg1321Met)
c.3389G>T (p.Arg1130Met)
c.3335G>T (p.Arg1112Met)
c.*103G>T (n.*103G>T)
c.3311G>T (p.Arg1104Met)
c.875G>T
c.2936G>T (p.Arg979Met)
n.1851G>T
n.953G>T
c.5069G>T (p.Arg1690Met)
c.5111G>T (p.Arg1704Met)
c.5090G>T (p.Arg1697Met)
c.5084G>T (p.Arg1695Met)
c.5063G>T (p.Arg1688Met)
c.3974G>T (p.Arg1325Met)
c.5072G>T (p.Arg1691Met)
n.954G>T
11g.70473320C>GCA381676390SHANK2c.3332G>C (p.Arg1111Thr)
c.877G>C (n.877G>C)
c.5099G>C (p.Arg1700Thr)
c.2608G>C
c.3962G>C (p.Arg1321Thr)
c.3389G>C (p.Arg1130Thr)
c.3335G>C (p.Arg1112Thr)
c.*103G>C (n.*103G>C)
c.3311G>C (p.Arg1104Thr)
c.875G>C
c.2936G>C (p.Arg979Thr)
n.1851G>C
n.953G>C
c.5069G>C (p.Arg1690Thr)
c.5111G>C (p.Arg1704Thr)
c.5090G>C (p.Arg1697Thr)
c.5084G>C (p.Arg1695Thr)
c.5063G>C (p.Arg1688Thr)
c.3974G>C (p.Arg1325Thr)
c.5072G>C (p.Arg1691Thr)
n.954G>C
11g.70473320C>TCA381676391SHANK2c.3332G>A (p.Arg1111Lys)
c.877G>A (n.877G>A)
c.5099G>A (p.Arg1700Lys)
c.2608G>A
c.3962G>A (p.Arg1321Lys)
c.3389G>A (p.Arg1130Lys)
c.3335G>A (p.Arg1112Lys)
c.*103G>A (n.*103G>A)
c.3311G>A (p.Arg1104Lys)
c.875G>A
c.2936G>A (p.Arg979Lys)
n.1851G>A
n.953G>A
c.5069G>A (p.Arg1690Lys)
c.5111G>A (p.Arg1704Lys)
c.5090G>A (p.Arg1697Lys)
c.5084G>A (p.Arg1695Lys)
c.5063G>A (p.Arg1688Lys)
c.3974G>A (p.Arg1325Lys)
c.5072G>A (p.Arg1691Lys)
n.954G>A
11g.70473321T>ACA381676392SHANK2c.3331A>T (p.Arg1111Trp)
c.876A>T (n.876A>T)
c.5098A>T (p.Arg1700Trp)
c.2607A>T
c.3961A>T (p.Arg1321Trp)
c.3388A>T (p.Arg1130Trp)
c.3334A>T (p.Arg1112Trp)
c.*102A>T (n.*102A>T)
c.3310A>T (p.Arg1104Trp)
c.874A>T
c.2935A>T (p.Arg979Trp)
n.1850A>T
n.952A>T
c.5068A>T (p.Arg1690Trp)
c.5110A>T (p.Arg1704Trp)
c.5089A>T (p.Arg1697Trp)
c.5083A>T (p.Arg1695Trp)
c.5062A>T (p.Arg1688Trp)
c.3973A>T (p.Arg1325Trp)
c.5071A>T (p.Arg1691Trp)
n.953A>T
11g.70473321T>CCA381676393SHANK2c.3331A>G (p.Arg1111Gly)
c.876A>G (n.876A>G)
c.5098A>G (p.Arg1700Gly)
c.2607A>G
c.3961A>G (p.Arg1321Gly)
c.3388A>G (p.Arg1130Gly)
c.3334A>G (p.Arg1112Gly)
c.*102A>G (n.*102A>G)
c.3310A>G (p.Arg1104Gly)
c.874A>G
c.2935A>G (p.Arg979Gly)
n.1850A>G
n.952A>G
c.5068A>G (p.Arg1690Gly)
c.5110A>G (p.Arg1704Gly)
c.5089A>G (p.Arg1697Gly)
c.5083A>G (p.Arg1695Gly)
c.5062A>G (p.Arg1688Gly)
c.3973A>G (p.Arg1325Gly)
c.5071A>G (p.Arg1691Gly)
n.953A>G
 dbSNP gnomAD v3 gnomAD v4
11g.70473321T>GCA475470748SHANK2c.3331A>C (p.Arg1111=)
c.876A>C (n.876A>C)
c.5098A>C (p.Arg1700=)
c.2607A>C
c.3961A>C (p.Arg1321=)
c.3388A>C (p.Arg1130=)
c.3334A>C (p.Arg1112=)
c.*102A>C (n.*102A>C)
c.3310A>C (p.Arg1104=)
c.874A>C
c.2935A>C (p.Arg979=)
n.1850A>C
n.952A>C
c.5068A>C (p.Arg1690=)
c.5110A>C (p.Arg1704=)
c.5089A>C (p.Arg1697=)
c.5083A>C (p.Arg1695=)
c.5062A>C (p.Arg1688=)
c.3973A>C (p.Arg1325=)
c.5071A>C (p.Arg1691=)
n.953A>C
 gnomAD v4
11g.70473321T=CA1981067999SHANK2c.3331A= (p.Arg1111=)
c.876A= (n.876A=)
c.5098A= (p.Arg1700=)
c.2607A=
c.3961A= (p.Arg1321=)
c.3388A= (p.Arg1130=)
c.3334A= (p.Arg1112=)
c.*102A= (n.*102A=)
c.3310A= (p.Arg1104=)
c.874A=
c.2935A= (p.Arg979=)
n.1850A=
n.952A=
c.5068A= (p.Arg1690=)
c.5110A= (p.Arg1704=)
c.5089A= (p.Arg1697=)
c.5083A= (p.Arg1695=)
c.5062A= (p.Arg1688=)
c.3973A= (p.Arg1325=)
c.5071A= (p.Arg1691=)
n.953A=
11g.70473322G>ACA475470749SHANK2c.3330C>T (p.Ser1110=)
c.875C>T (n.875C>T)
c.5097C>T (p.Ser1699=)
c.2606C>T
c.3960C>T (p.Ser1320=)
c.3387C>T (p.Ser1129=)
c.3333C>T (p.Ser1111=)
c.*101C>T (n.*101C>T)
c.3309C>T (p.Ser1103=)
c.873C>T
c.2934C>T (p.Ser978=)
n.1849C>T
n.951C>T
c.5067C>T (p.Ser1689=)
c.5109C>T (p.Ser1703=)
c.5088C>T (p.Ser1696=)
c.5082C>T (p.Ser1694=)
c.5061C>T (p.Ser1687=)
c.3972C>T (p.Ser1324=)
c.5070C>T (p.Ser1690=)
n.952C>T
11g.70473322G>CCA381676394SHANK2c.3330C>G (p.Ser1110Arg)
c.875C>G (n.875C>G)
c.5097C>G (p.Ser1699Arg)
c.2606C>G
c.3960C>G (p.Ser1320Arg)
c.3387C>G (p.Ser1129Arg)
c.3333C>G (p.Ser1111Arg)
c.*101C>G (n.*101C>G)
c.3309C>G (p.Ser1103Arg)
c.873C>G
c.2934C>G (p.Ser978Arg)
n.1849C>G
n.951C>G
c.5067C>G (p.Ser1689Arg)
c.5109C>G (p.Ser1703Arg)
c.5088C>G (p.Ser1696Arg)
c.5082C>G (p.Ser1694Arg)
c.5061C>G (p.Ser1687Arg)
c.3972C>G (p.Ser1324Arg)
c.5070C>G (p.Ser1690Arg)
n.952C>G
11g.70473322G>TCA381676395SHANK2c.3330C>A (p.Ser1110Arg)
c.875C>A (n.875C>A)
c.5097C>A (p.Ser1699Arg)
c.2606C>A
c.3960C>A (p.Ser1320Arg)
c.3387C>A (p.Ser1129Arg)
c.3333C>A (p.Ser1111Arg)
c.*101C>A (n.*101C>A)
c.3309C>A (p.Ser1103Arg)
c.873C>A
c.2934C>A (p.Ser978Arg)
n.1849C>A
n.951C>A
c.5067C>A (p.Ser1689Arg)
c.5109C>A (p.Ser1703Arg)
c.5088C>A (p.Ser1696Arg)
c.5082C>A (p.Ser1694Arg)
c.5061C>A (p.Ser1687Arg)
c.3972C>A (p.Ser1324Arg)
c.5070C>A (p.Ser1690Arg)
n.952C>A
11g.70473323C>ACA381676396SHANK2c.3329G>T (p.Ser1110Ile)
c.874G>T (n.874G>T)
c.5096G>T (p.Ser1699Ile)
c.2605G>T
c.3959G>T (p.Ser1320Ile)
c.3386G>T (p.Ser1129Ile)
c.3332G>T (p.Ser1111Ile)
c.*100G>T (n.*100G>T)
c.3308G>T (p.Ser1103Ile)
c.872G>T
c.2933G>T (p.Ser978Ile)
n.1848G>T
n.950G>T
c.5066G>T (p.Ser1689Ile)
c.5108G>T (p.Ser1703Ile)
c.5087G>T (p.Ser1696Ile)
c.5081G>T (p.Ser1694Ile)
c.5060G>T (p.Ser1687Ile)
c.3971G>T (p.Ser1324Ile)
c.5069G>T (p.Ser1690Ile)
n.951G>T
 gnomAD v4
11g.70473323C=CA1981068000SHANK2c.3329G= (p.Ser1110=)
c.874G= (n.874G=)
c.5096G= (p.Ser1699=)
c.2605G=
c.3959G= (p.Ser1320=)
c.3386G= (p.Ser1129=)
c.3332G= (p.Ser1111=)
c.*100G= (n.*100G=)
c.3308G= (p.Ser1103=)
c.872G=
c.2933G= (p.Ser978=)
n.1848G=
n.950G=
c.5066G= (p.Ser1689=)
c.5108G= (p.Ser1703=)
c.5087G= (p.Ser1696=)
c.5081G= (p.Ser1694=)
c.5060G= (p.Ser1687=)
c.3971G= (p.Ser1324=)
c.5069G= (p.Ser1690=)
n.951G=
11g.70473323C>GCA381676397SHANK2c.3329G>C (p.Ser1110Thr)
c.874G>C (n.874G>C)
c.5096G>C (p.Ser1699Thr)
c.2605G>C
c.3959G>C (p.Ser1320Thr)
c.3386G>C (p.Ser1129Thr)
c.3332G>C (p.Ser1111Thr)
c.*100G>C (n.*100G>C)
c.3308G>C (p.Ser1103Thr)
c.872G>C
c.2933G>C (p.Ser978Thr)
n.1848G>C
n.950G>C
c.5066G>C (p.Ser1689Thr)
c.5108G>C (p.Ser1703Thr)
c.5087G>C (p.Ser1696Thr)
c.5081G>C (p.Ser1694Thr)
c.5060G>C (p.Ser1687Thr)
c.3971G>C (p.Ser1324Thr)
c.5069G>C (p.Ser1690Thr)
n.951G>C
11g.70473323C>TCA381676398SHANK2c.3329G>A (p.Ser1110Asn)
c.874G>A (n.874G>A)
c.5096G>A (p.Ser1699Asn)
c.2605G>A
c.3959G>A (p.Ser1320Asn)
c.3386G>A (p.Ser1129Asn)
c.3332G>A (p.Ser1111Asn)
c.*100G>A (n.*100G>A)
c.3308G>A (p.Ser1103Asn)
c.872G>A
c.2933G>A (p.Ser978Asn)
n.1848G>A
n.950G>A
c.5066G>A (p.Ser1689Asn)
c.5108G>A (p.Ser1703Asn)
c.5087G>A (p.Ser1696Asn)
c.5081G>A (p.Ser1694Asn)
c.5060G>A (p.Ser1687Asn)
c.3971G>A (p.Ser1324Asn)
c.5069G>A (p.Ser1690Asn)
n.951G>A
 dbSNP gnomAD v4
11g.70473324T>ACA381676399SHANK2c.3328A>T (p.Ser1110Cys)
c.873A>T (n.873A>T)
c.5095A>T (p.Ser1699Cys)
c.2604A>T
c.3958A>T (p.Ser1320Cys)
c.3385A>T (p.Ser1129Cys)
c.3331A>T (p.Ser1111Cys)
c.*99A>T (n.*99A>T)
c.3307A>T (p.Ser1103Cys)
c.871A>T
c.2932A>T (p.Ser978Cys)
n.1847A>T
n.949A>T
c.5065A>T (p.Ser1689Cys)
c.5107A>T (p.Ser1703Cys)
c.5086A>T (p.Ser1696Cys)
c.5080A>T (p.Ser1694Cys)
c.5059A>T (p.Ser1687Cys)
c.3970A>T (p.Ser1324Cys)
c.5068A>T (p.Ser1690Cys)
n.950A>T
11g.70473324T>CCA381676400SHANK2c.3328A>G (p.Ser1110Gly)
c.873A>G (n.873A>G)
c.5095A>G (p.Ser1699Gly)
c.2604A>G
c.3958A>G (p.Ser1320Gly)
c.3385A>G (p.Ser1129Gly)
c.3331A>G (p.Ser1111Gly)
c.*99A>G (n.*99A>G)
c.3307A>G (p.Ser1103Gly)
c.871A>G
c.2932A>G (p.Ser978Gly)
n.1847A>G
n.949A>G
c.5065A>G (p.Ser1689Gly)
c.5107A>G (p.Ser1703Gly)
c.5086A>G (p.Ser1696Gly)
c.5080A>G (p.Ser1694Gly)
c.5059A>G (p.Ser1687Gly)
c.3970A>G (p.Ser1324Gly)
c.5068A>G (p.Ser1690Gly)
n.950A>G
 dbSNP gnomAD v2 gnomAD v4
11g.70473324T>GCA381676401SHANK2c.3328A>C (p.Ser1110Arg)
c.873A>C (n.873A>C)
c.5095A>C (p.Ser1699Arg)
c.2604A>C
c.3958A>C (p.Ser1320Arg)
c.3385A>C (p.Ser1129Arg)
c.3331A>C (p.Ser1111Arg)
c.*99A>C (n.*99A>C)
c.3307A>C (p.Ser1103Arg)
c.871A>C
c.2932A>C (p.Ser978Arg)
n.1847A>C
n.949A>C
c.5065A>C (p.Ser1689Arg)
c.5107A>C (p.Ser1703Arg)
c.5086A>C (p.Ser1696Arg)
c.5080A>C (p.Ser1694Arg)
c.5059A>C (p.Ser1687Arg)
c.3970A>C (p.Ser1324Arg)
c.5068A>C (p.Ser1690Arg)
n.950A>C
11g.70473324T=CA1981068001SHANK2c.3328A= (p.Ser1110=)
c.873A= (n.873A=)
c.5095A= (p.Ser1699=)
c.2604A=
c.3958A= (p.Ser1320=)
c.3385A= (p.Ser1129=)
c.3331A= (p.Ser1111=)
c.*99A= (n.*99A=)
c.3307A= (p.Ser1103=)
c.871A=
c.2932A= (p.Ser978=)
n.1847A=
n.949A=
c.5065A= (p.Ser1689=)
c.5107A= (p.Ser1703=)
c.5086A= (p.Ser1696=)
c.5080A= (p.Ser1694=)
c.5059A= (p.Ser1687=)
c.3970A= (p.Ser1324=)
c.5068A= (p.Ser1690=)
n.950A=
11g.70473325T>ACA381676402SHANK2c.3327A>T (p.Glu1109Asp)
c.872A>T (n.872A>T)
c.5094A>T (p.Glu1698Asp)
c.2603A>T
c.3957A>T (p.Glu1319Asp)
c.3384A>T (p.Glu1128Asp)
c.3330A>T (p.Glu1110Asp)
c.*98A>T (n.*98A>T)
c.3306A>T (p.Glu1102Asp)
c.870A>T
c.2931A>T (p.Glu977Asp)
n.1846A>T
n.948A>T
c.5064A>T (p.Glu1688Asp)
c.5106A>T (p.Glu1702Asp)
c.5085A>T (p.Glu1695Asp)
c.5079A>T (p.Glu1693Asp)
c.5058A>T (p.Glu1686Asp)
c.3969A>T (p.Glu1323Asp)
c.5067A>T (p.Glu1689Asp)
n.949A>T
11g.70473325T>CCA475470750SHANK2c.3327A>G (p.Glu1109=)
c.872A>G (n.872A>G)
c.5094A>G (p.Glu1698=)
c.2603A>G
c.3957A>G (p.Glu1319=)
c.3384A>G (p.Glu1128=)
c.3330A>G (p.Glu1110=)
c.*98A>G (n.*98A>G)
c.3306A>G (p.Glu1102=)
c.870A>G
c.2931A>G (p.Glu977=)
n.1846A>G
n.948A>G
c.5064A>G (p.Glu1688=)
c.5106A>G (p.Glu1702=)
c.5085A>G (p.Glu1695=)
c.5079A>G (p.Glu1693=)
c.5058A>G (p.Glu1686=)
c.3969A>G (p.Glu1323=)
c.5067A>G (p.Glu1689=)
n.949A>G
11g.70473325T>GCA381676403SHANK2c.3327A>C (p.Glu1109Asp)
c.872A>C (n.872A>C)
c.5094A>C (p.Glu1698Asp)
c.2603A>C
c.3957A>C (p.Glu1319Asp)
c.3384A>C (p.Glu1128Asp)
c.3330A>C (p.Glu1110Asp)
c.*98A>C (n.*98A>C)
c.3306A>C (p.Glu1102Asp)
c.870A>C
c.2931A>C (p.Glu977Asp)
n.1846A>C
n.948A>C
c.5064A>C (p.Glu1688Asp)
c.5106A>C (p.Glu1702Asp)
c.5085A>C (p.Glu1695Asp)
c.5079A>C (p.Glu1693Asp)
c.5058A>C (p.Glu1686Asp)
c.3969A>C (p.Glu1323Asp)
c.5067A>C (p.Glu1689Asp)
n.949A>C
11g.70473326T>ACA381676404SHANK2c.3326A>T (p.Glu1109Val)
c.871A>T (n.871A>T)
c.5093A>T (p.Glu1698Val)
c.2602A>T
c.3956A>T (p.Glu1319Val)
c.3383A>T (p.Glu1128Val)
c.3329A>T (p.Glu1110Val)
c.*97A>T (n.*97A>T)
c.3305A>T (p.Glu1102Val)
c.869A>T
c.2930A>T (p.Glu977Val)
n.1845A>T
n.947A>T
c.5063A>T (p.Glu1688Val)
c.5105A>T (p.Glu1702Val)
c.5084A>T (p.Glu1695Val)
c.5078A>T (p.Glu1693Val)
c.5057A>T (p.Glu1686Val)
c.3968A>T (p.Glu1323Val)
c.5066A>T (p.Glu1689Val)
n.948A>T
11g.70473326T>CCA381676405SHANK2c.3326A>G (p.Glu1109Gly)
c.871A>G (n.871A>G)
c.5093A>G (p.Glu1698Gly)
c.2602A>G
c.3956A>G (p.Glu1319Gly)
c.3383A>G (p.Glu1128Gly)
c.3329A>G (p.Glu1110Gly)
c.*97A>G (n.*97A>G)
c.3305A>G (p.Glu1102Gly)
c.869A>G
c.2930A>G (p.Glu977Gly)
n.1845A>G
n.947A>G
c.5063A>G (p.Glu1688Gly)
c.5105A>G (p.Glu1702Gly)
c.5084A>G (p.Glu1695Gly)
c.5078A>G (p.Glu1693Gly)
c.5057A>G (p.Glu1686Gly)
c.3968A>G (p.Glu1323Gly)
c.5066A>G (p.Glu1689Gly)
n.948A>G
 gnomAD v4
11g.70473326T>GCA381676406SHANK2c.3326A>C (p.Glu1109Ala)
c.871A>C (n.871A>C)
c.5093A>C (p.Glu1698Ala)
c.2602A>C
c.3956A>C (p.Glu1319Ala)
c.3383A>C (p.Glu1128Ala)
c.3329A>C (p.Glu1110Ala)
c.*97A>C (n.*97A>C)
c.3305A>C (p.Glu1102Ala)
c.869A>C
c.2930A>C (p.Glu977Ala)
n.1845A>C
n.947A>C
c.5063A>C (p.Glu1688Ala)
c.5105A>C (p.Glu1702Ala)
c.5084A>C (p.Glu1695Ala)
c.5078A>C (p.Glu1693Ala)
c.5057A>C (p.Glu1686Ala)
c.3968A>C (p.Glu1323Ala)
c.5066A>C (p.Glu1689Ala)
n.948A>C
11g.70473327C>ACA381676407SHANK2c.3325G>T (p.Glu1109Ter)
c.870G>T (n.870G>T)
c.5092G>T (p.Glu1698Ter)
c.2601G>T
c.3955G>T (p.Glu1319Ter)
c.3382G>T (p.Glu1128Ter)
c.3328G>T (p.Glu1110Ter)
c.*96G>T (n.*96G>T)
c.3304G>T (p.Glu1102Ter)
c.868G>T
c.2929G>T (p.Glu977Ter)
n.1844G>T
n.946G>T
c.5062G>T (p.Glu1688Ter)
c.5104G>T (p.Glu1702Ter)
c.5083G>T (p.Glu1695Ter)
c.5077G>T (p.Glu1693Ter)
c.5056G>T (p.Glu1686Ter)
c.3967G>T (p.Glu1323Ter)
c.5065G>T (p.Glu1689Ter)
n.947G>T
11g.70473327C>GCA381676409SHANK2c.3325G>C (p.Glu1109Gln)
c.870G>C (n.870G>C)
c.5092G>C (p.Glu1698Gln)
c.2601G>C
c.3955G>C (p.Glu1319Gln)
c.3382G>C (p.Glu1128Gln)
c.3328G>C (p.Glu1110Gln)
c.*96G>C (n.*96G>C)
c.3304G>C (p.Glu1102Gln)
c.868G>C
c.2929G>C (p.Glu977Gln)
n.1844G>C
n.946G>C
c.5062G>C (p.Glu1688Gln)
c.5104G>C (p.Glu1702Gln)
c.5083G>C (p.Glu1695Gln)
c.5077G>C (p.Glu1693Gln)
c.5056G>C (p.Glu1686Gln)
c.3967G>C (p.Glu1323Gln)
c.5065G>C (p.Glu1689Gln)
n.947G>C
11g.70473327C>TCA381676408SHANK2c.3325G>A (p.Glu1109Lys)
c.870G>A (n.870G>A)
c.5092G>A (p.Glu1698Lys)
c.2601G>A
c.3955G>A (p.Glu1319Lys)
c.3382G>A (p.Glu1128Lys)
c.3328G>A (p.Glu1110Lys)
c.*96G>A (n.*96G>A)
c.3304G>A (p.Glu1102Lys)
c.868G>A
c.2929G>A (p.Glu977Lys)
n.1844G>A
n.946G>A
c.5062G>A (p.Glu1688Lys)
c.5104G>A (p.Glu1702Lys)
c.5083G>A (p.Glu1695Lys)
c.5077G>A (p.Glu1693Lys)
c.5056G>A (p.Glu1686Lys)
c.3967G>A (p.Glu1323Lys)
c.5065G>A (p.Glu1689Lys)
n.947G>A
11g.70473328A=CA1981068002SHANK2c.3324T= (p.Tyr1108=)
c.869T= (n.869T=)
c.5091T= (p.Tyr1697=)
c.2600T=
c.3954T= (p.Tyr1318=)
c.3381T= (p.Tyr1127=)
c.3327T= (p.Tyr1109=)
c.*95T= (n.*95T=)
c.3303T= (p.Tyr1101=)
c.867T=
c.2928T= (p.Tyr976=)
n.1843T=
n.945T=
c.5061T= (p.Tyr1687=)
c.5103T= (p.Tyr1701=)
c.5082T= (p.Tyr1694=)
c.5076T= (p.Tyr1692=)
c.5055T= (p.Tyr1685=)
c.3966T= (p.Tyr1322=)
c.5064T= (p.Tyr1688=)
n.946T=
11g.70473328A>CCA381676410SHANK2c.3324T>G (p.Tyr1108Ter)
c.869T>G (n.869T>G)
c.5091T>G (p.Tyr1697Ter)
c.2600T>G
c.3954T>G (p.Tyr1318Ter)
c.3381T>G (p.Tyr1127Ter)
c.3327T>G (p.Tyr1109Ter)
c.*95T>G (n.*95T>G)
c.3303T>G (p.Tyr1101Ter)
c.867T>G
c.2928T>G (p.Tyr976Ter)
n.1843T>G
n.945T>G
c.5061T>G (p.Tyr1687Ter)
c.5103T>G (p.Tyr1701Ter)
c.5082T>G (p.Tyr1694Ter)
c.5076T>G (p.Tyr1692Ter)
c.5055T>G (p.Tyr1685Ter)
c.3966T>G (p.Tyr1322Ter)
c.5064T>G (p.Tyr1688Ter)
n.946T>G
11g.70473328A>GCA6160772SHANK2c.3324T>C (p.Tyr1108=)
c.869T>C (n.869T>C)
c.5091T>C (p.Tyr1697=)
c.2600T>C
c.3954T>C (p.Tyr1318=)
c.3381T>C (p.Tyr1127=)
c.3327T>C (p.Tyr1109=)
c.*95T>C (n.*95T>C)
c.3303T>C (p.Tyr1101=)
c.867T>C
c.2928T>C (p.Tyr976=)
n.1843T>C
n.945T>C
c.5061T>C (p.Tyr1687=)
c.5103T>C (p.Tyr1701=)
c.5082T>C (p.Tyr1694=)
c.5076T>C (p.Tyr1692=)
c.5055T>C (p.Tyr1685=)
c.3966T>C (p.Tyr1322=)
c.5064T>C (p.Tyr1688=)
n.946T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473328A>TCA381676411SHANK2c.3324T>A (p.Tyr1108Ter)
c.869T>A (n.869T>A)
c.5091T>A (p.Tyr1697Ter)
c.2600T>A
c.3954T>A (p.Tyr1318Ter)
c.3381T>A (p.Tyr1127Ter)
c.3327T>A (p.Tyr1109Ter)
c.*95T>A (n.*95T>A)
c.3303T>A (p.Tyr1101Ter)
c.867T>A
c.2928T>A (p.Tyr976Ter)
n.1843T>A
n.945T>A
c.5061T>A (p.Tyr1687Ter)
c.5103T>A (p.Tyr1701Ter)
c.5082T>A (p.Tyr1694Ter)
c.5076T>A (p.Tyr1692Ter)
c.5055T>A (p.Tyr1685Ter)
c.3966T>A (p.Tyr1322Ter)
c.5064T>A (p.Tyr1688Ter)
n.946T>A
11g.70473329T>ACA381676412SHANK2c.3323A>T (p.Tyr1108Phe)
c.868A>T (n.868A>T)
c.5090A>T (p.Tyr1697Phe)
c.2599A>T
c.3953A>T (p.Tyr1318Phe)
c.3380A>T (p.Tyr1127Phe)
c.3326A>T (p.Tyr1109Phe)
c.*94A>T (n.*94A>T)
c.3302A>T (p.Tyr1101Phe)
c.866A>T
c.2927A>T (p.Tyr976Phe)
n.1842A>T
n.944A>T
c.5060A>T (p.Tyr1687Phe)
c.5102A>T (p.Tyr1701Phe)
c.5081A>T (p.Tyr1694Phe)
c.5075A>T (p.Tyr1692Phe)
c.5054A>T (p.Tyr1685Phe)
c.3965A>T (p.Tyr1322Phe)
c.5063A>T (p.Tyr1688Phe)
n.945A>T
11g.70473329T>CCA6160773SHANK2c.3323A>G (p.Tyr1108Cys)
c.868A>G (n.868A>G)
c.5090A>G (p.Tyr1697Cys)
c.2599A>G
c.3953A>G (p.Tyr1318Cys)
c.3380A>G (p.Tyr1127Cys)
c.3326A>G (p.Tyr1109Cys)
c.*94A>G (n.*94A>G)
c.3302A>G (p.Tyr1101Cys)
c.866A>G
c.2927A>G (p.Tyr976Cys)
n.1842A>G
n.944A>G
c.5060A>G (p.Tyr1687Cys)
c.5102A>G (p.Tyr1701Cys)
c.5081A>G (p.Tyr1694Cys)
c.5075A>G (p.Tyr1692Cys)
c.5054A>G (p.Tyr1685Cys)
c.3965A>G (p.Tyr1322Cys)
c.5063A>G (p.Tyr1688Cys)
n.945A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473329T>GCA381676413SHANK2c.3323A>C (p.Tyr1108Ser)
c.868A>C (n.868A>C)
c.5090A>C (p.Tyr1697Ser)
c.2599A>C
c.3953A>C (p.Tyr1318Ser)
c.3380A>C (p.Tyr1127Ser)
c.3326A>C (p.Tyr1109Ser)
c.*94A>C (n.*94A>C)
c.3302A>C (p.Tyr1101Ser)
c.866A>C
c.2927A>C (p.Tyr976Ser)
n.1842A>C
n.944A>C
c.5060A>C (p.Tyr1687Ser)
c.5102A>C (p.Tyr1701Ser)
c.5081A>C (p.Tyr1694Ser)
c.5075A>C (p.Tyr1692Ser)
c.5054A>C (p.Tyr1685Ser)
c.3965A>C (p.Tyr1322Ser)
c.5063A>C (p.Tyr1688Ser)
n.945A>C
11g.70473329T=CA1981068003SHANK2c.3323A= (p.Tyr1108=)
c.868A= (n.868A=)
c.5090A= (p.Tyr1697=)
c.2599A=
c.3953A= (p.Tyr1318=)
c.3380A= (p.Tyr1127=)
c.3326A= (p.Tyr1109=)
c.*94A= (n.*94A=)
c.3302A= (p.Tyr1101=)
c.866A=
c.2927A= (p.Tyr976=)
n.1842A=
n.944A=
c.5060A= (p.Tyr1687=)
c.5102A= (p.Tyr1701=)
c.5081A= (p.Tyr1694=)
c.5075A= (p.Tyr1692=)
c.5054A= (p.Tyr1685=)
c.3965A= (p.Tyr1322=)
c.5063A= (p.Tyr1688=)
n.945A=
11g.70473330A>CCA381676414SHANK2c.3322T>G (p.Tyr1108Asp)
c.867T>G (n.867T>G)
c.5089T>G (p.Tyr1697Asp)
c.2598T>G
c.3952T>G (p.Tyr1318Asp)
c.3379T>G (p.Tyr1127Asp)
c.3325T>G (p.Tyr1109Asp)
c.*93T>G (n.*93T>G)
c.3301T>G (p.Tyr1101Asp)
c.865T>G
c.2926T>G (p.Tyr976Asp)
n.1841T>G
n.943T>G
c.5059T>G (p.Tyr1687Asp)
c.5101T>G (p.Tyr1701Asp)
c.5080T>G (p.Tyr1694Asp)
c.5074T>G (p.Tyr1692Asp)
c.5053T>G (p.Tyr1685Asp)
c.3964T>G (p.Tyr1322Asp)
c.5062T>G (p.Tyr1688Asp)
n.944T>G
11g.70473330A>GCA381676415SHANK2c.3322T>C (p.Tyr1108His)
c.867T>C (n.867T>C)
c.5089T>C (p.Tyr1697His)
c.2598T>C
c.3952T>C (p.Tyr1318His)
c.3379T>C (p.Tyr1127His)
c.3325T>C (p.Tyr1109His)
c.*93T>C (n.*93T>C)
c.3301T>C (p.Tyr1101His)
c.865T>C
c.2926T>C (p.Tyr976His)
n.1841T>C
n.943T>C
c.5059T>C (p.Tyr1687His)
c.5101T>C (p.Tyr1701His)
c.5080T>C (p.Tyr1694His)
c.5074T>C (p.Tyr1692His)
c.5053T>C (p.Tyr1685His)
c.3964T>C (p.Tyr1322His)
c.5062T>C (p.Tyr1688His)
n.944T>C
11g.70473330A>TCA381676416SHANK2c.3322T>A (p.Tyr1108Asn)
c.867T>A (n.867T>A)
c.5089T>A (p.Tyr1697Asn)
c.2598T>A
c.3952T>A (p.Tyr1318Asn)
c.3379T>A (p.Tyr1127Asn)
c.3325T>A (p.Tyr1109Asn)
c.*93T>A (n.*93T>A)
c.3301T>A (p.Tyr1101Asn)
c.865T>A
c.2926T>A (p.Tyr976Asn)
n.1841T>A
n.943T>A
c.5059T>A (p.Tyr1687Asn)
c.5101T>A (p.Tyr1701Asn)
c.5080T>A (p.Tyr1694Asn)
c.5074T>A (p.Tyr1692Asn)
c.5053T>A (p.Tyr1685Asn)
c.3964T>A (p.Tyr1322Asn)
c.5062T>A (p.Tyr1688Asn)
n.944T>A
11g.70473331G>ACA475470751SHANK2c.3321C>T (p.Asp1107=)
c.866C>T (n.866C>T)
c.5088C>T (p.Asp1696=)
c.2597C>T
c.3951C>T (p.Asp1317=)
c.3378C>T (p.Asp1126=)
c.3324C>T (p.Asp1108=)
c.*92C>T (n.*92C>T)
c.3300C>T (p.Asp1100=)
c.864C>T
c.2925C>T (p.Asp975=)
n.1840C>T
n.942C>T
c.5058C>T (p.Asp1686=)
c.5100C>T (p.Asp1700=)
c.5079C>T (p.Asp1693=)
c.5073C>T (p.Asp1691=)
c.5052C>T (p.Asp1684=)
c.3963C>T (p.Asp1321=)
c.5061C>T (p.Asp1687=)
n.943C>T
 gnomAD v4
11g.70473331G>CCA381676417SHANK2c.3321C>G (p.Asp1107Glu)
c.866C>G (n.866C>G)
c.5088C>G (p.Asp1696Glu)
c.2597C>G
c.3951C>G (p.Asp1317Glu)
c.3378C>G (p.Asp1126Glu)
c.3324C>G (p.Asp1108Glu)
c.*92C>G (n.*92C>G)
c.3300C>G (p.Asp1100Glu)
c.864C>G
c.2925C>G (p.Asp975Glu)
n.1840C>G
n.942C>G
c.5058C>G (p.Asp1686Glu)
c.5100C>G (p.Asp1700Glu)
c.5079C>G (p.Asp1693Glu)
c.5073C>G (p.Asp1691Glu)
c.5052C>G (p.Asp1684Glu)
c.3963C>G (p.Asp1321Glu)
c.5061C>G (p.Asp1687Glu)
n.943C>G
11g.70473331G=CA1981068004SHANK2c.3321C= (p.Asp1107=)
c.866C= (n.866C=)
c.5088C= (p.Asp1696=)
c.2597C=
c.3951C= (p.Asp1317=)
c.3378C= (p.Asp1126=)
c.3324C= (p.Asp1108=)
c.*92C= (n.*92C=)
c.3300C= (p.Asp1100=)
c.864C=
c.2925C= (p.Asp975=)
n.1840C=
n.942C=
c.5058C= (p.Asp1686=)
c.5100C= (p.Asp1700=)
c.5079C= (p.Asp1693=)
c.5073C= (p.Asp1691=)
c.5052C= (p.Asp1684=)
c.3963C= (p.Asp1321=)
c.5061C= (p.Asp1687=)
n.943C=
11g.70473331G>TCA6160774SHANK2c.3321C>A (p.Asp1107Glu)
c.866C>A (n.866C>A)
c.5088C>A (p.Asp1696Glu)
c.2597C>A
c.3951C>A (p.Asp1317Glu)
c.3378C>A (p.Asp1126Glu)
c.3324C>A (p.Asp1108Glu)
c.*92C>A (n.*92C>A)
c.3300C>A (p.Asp1100Glu)
c.864C>A
c.2925C>A (p.Asp975Glu)
n.1840C>A
n.942C>A
c.5058C>A (p.Asp1686Glu)
c.5100C>A (p.Asp1700Glu)
c.5079C>A (p.Asp1693Glu)
c.5073C>A (p.Asp1691Glu)
c.5052C>A (p.Asp1684Glu)
c.3963C>A (p.Asp1321Glu)
c.5061C>A (p.Asp1687Glu)
n.943C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473332T>ACA381676420SHANK2c.3320A>T (p.Asp1107Val)
c.865A>T (n.865A>T)
c.5087A>T (p.Asp1696Val)
c.2596A>T
c.3950A>T (p.Asp1317Val)
c.3377A>T (p.Asp1126Val)
c.3323A>T (p.Asp1108Val)
c.*91A>T (n.*91A>T)
c.3299A>T (p.Asp1100Val)
c.863A>T
c.2924A>T (p.Asp975Val)
n.1839A>T
n.941A>T
c.5057A>T (p.Asp1686Val)
c.5099A>T (p.Asp1700Val)
c.5078A>T (p.Asp1693Val)
c.5072A>T (p.Asp1691Val)
c.5051A>T (p.Asp1684Val)
c.3962A>T (p.Asp1321Val)
c.5060A>T (p.Asp1687Val)
n.942A>T
11g.70473332T>CCA381676419SHANK2c.3320A>G (p.Asp1107Gly)
c.865A>G (n.865A>G)
c.5087A>G (p.Asp1696Gly)
c.2596A>G
c.3950A>G (p.Asp1317Gly)
c.3377A>G (p.Asp1126Gly)
c.3323A>G (p.Asp1108Gly)
c.*91A>G (n.*91A>G)
c.3299A>G (p.Asp1100Gly)
c.863A>G
c.2924A>G (p.Asp975Gly)
n.1839A>G
n.941A>G
c.5057A>G (p.Asp1686Gly)
c.5099A>G (p.Asp1700Gly)
c.5078A>G (p.Asp1693Gly)
c.5072A>G (p.Asp1691Gly)
c.5051A>G (p.Asp1684Gly)
c.3962A>G (p.Asp1321Gly)
c.5060A>G (p.Asp1687Gly)
n.942A>G
11g.70473332T>GCA381676418SHANK2c.3320A>C (p.Asp1107Ala)
c.865A>C (n.865A>C)
c.5087A>C (p.Asp1696Ala)
c.2596A>C
c.3950A>C (p.Asp1317Ala)
c.3377A>C (p.Asp1126Ala)
c.3323A>C (p.Asp1108Ala)
c.*91A>C (n.*91A>C)
c.3299A>C (p.Asp1100Ala)
c.863A>C
c.2924A>C (p.Asp975Ala)
n.1839A>C
n.941A>C
c.5057A>C (p.Asp1686Ala)
c.5099A>C (p.Asp1700Ala)
c.5078A>C (p.Asp1693Ala)
c.5072A>C (p.Asp1691Ala)
c.5051A>C (p.Asp1684Ala)
c.3962A>C (p.Asp1321Ala)
c.5060A>C (p.Asp1687Ala)
n.942A>C
11g.70473333C>ACA381676421SHANK2c.3319G>T (p.Asp1107Tyr)
c.864G>T (n.864G>T)
c.5086G>T (p.Asp1696Tyr)
c.2595G>T
c.3949G>T (p.Asp1317Tyr)
c.3376G>T (p.Asp1126Tyr)
c.3322G>T (p.Asp1108Tyr)
c.*90G>T (n.*90G>T)
c.3298G>T (p.Asp1100Tyr)
c.862G>T
c.2923G>T (p.Asp975Tyr)
n.1838G>T
n.940G>T
c.5056G>T (p.Asp1686Tyr)
c.5098G>T (p.Asp1700Tyr)
c.5077G>T (p.Asp1693Tyr)
c.5071G>T (p.Asp1691Tyr)
c.5050G>T (p.Asp1684Tyr)
c.3961G>T (p.Asp1321Tyr)
c.5059G>T (p.Asp1687Tyr)
n.941G>T
11g.70473333C=CA1981068005SHANK2c.3319G= (p.Asp1107=)
c.864G= (n.864G=)
c.5086G= (p.Asp1696=)
c.2595G=
c.3949G= (p.Asp1317=)
c.3376G= (p.Asp1126=)
c.3322G= (p.Asp1108=)
c.*90G= (n.*90G=)
c.3298G= (p.Asp1100=)
c.862G=
c.2923G= (p.Asp975=)
n.1838G=
n.940G=
c.5056G= (p.Asp1686=)
c.5098G= (p.Asp1700=)
c.5077G= (p.Asp1693=)
c.5071G= (p.Asp1691=)
c.5050G= (p.Asp1684=)
c.3961G= (p.Asp1321=)
c.5059G= (p.Asp1687=)
n.941G=
11g.70473333C>GCA381676422SHANK2c.3319G>C (p.Asp1107His)
c.864G>C (n.864G>C)
c.5086G>C (p.Asp1696His)
c.2595G>C
c.3949G>C (p.Asp1317His)
c.3376G>C (p.Asp1126His)
c.3322G>C (p.Asp1108His)
c.*90G>C (n.*90G>C)
c.3298G>C (p.Asp1100His)
c.862G>C
c.2923G>C (p.Asp975His)
n.1838G>C
n.940G>C
c.5056G>C (p.Asp1686His)
c.5098G>C (p.Asp1700His)
c.5077G>C (p.Asp1693His)
c.5071G>C (p.Asp1691His)
c.5050G>C (p.Asp1684His)
c.3961G>C (p.Asp1321His)
c.5059G>C (p.Asp1687His)
n.941G>C
11g.70473333C>TCA6160775SHANK2c.3319G>A (p.Asp1107Asn)
c.864G>A (n.864G>A)
c.5086G>A (p.Asp1696Asn)
c.2595G>A
c.3949G>A (p.Asp1317Asn)
c.3376G>A (p.Asp1126Asn)
c.3322G>A (p.Asp1108Asn)
c.*90G>A (n.*90G>A)
c.3298G>A (p.Asp1100Asn)
c.862G>A
c.2923G>A (p.Asp975Asn)
n.1838G>A
n.940G>A
c.5056G>A (p.Asp1686Asn)
c.5098G>A (p.Asp1700Asn)
c.5077G>A (p.Asp1693Asn)
c.5071G>A (p.Asp1691Asn)
c.5050G>A (p.Asp1684Asn)
c.3961G>A (p.Asp1321Asn)
c.5059G>A (p.Asp1687Asn)
n.941G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473334G>ACA475470752SHANK2c.3318C>T (p.Pro1106=)
c.863C>T (n.863C>T)
c.5085C>T (p.Pro1695=)
c.2594C>T
c.3948C>T (p.Pro1316=)
c.3375C>T (p.Pro1125=)
c.3321C>T (p.Pro1107=)
c.*89C>T (n.*89C>T)
c.3297C>T (p.Pro1099=)
c.861C>T
c.2922C>T (p.Pro974=)
n.1837C>T
n.939C>T
c.5055C>T (p.Pro1685=)
c.5097C>T (p.Pro1699=)
c.5076C>T (p.Pro1692=)
c.5070C>T (p.Pro1690=)
c.5049C>T (p.Pro1683=)
c.3960C>T (p.Pro1320=)
c.5058C>T (p.Pro1686=)
n.940C>T
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
11g.70473334G>CCA475470753SHANK2c.3318C>G (p.Pro1106=)
c.863C>G (n.863C>G)
c.5085C>G (p.Pro1695=)
c.2594C>G
c.3948C>G (p.Pro1316=)
c.3375C>G (p.Pro1125=)
c.3321C>G (p.Pro1107=)
c.*89C>G (n.*89C>G)
c.3297C>G (p.Pro1099=)
c.861C>G
c.2922C>G (p.Pro974=)
n.1837C>G
n.939C>G
c.5055C>G (p.Pro1685=)
c.5097C>G (p.Pro1699=)
c.5076C>G (p.Pro1692=)
c.5070C>G (p.Pro1690=)
c.5049C>G (p.Pro1683=)
c.3960C>G (p.Pro1320=)
c.5058C>G (p.Pro1686=)
n.940C>G
11g.70473334G=CA1981068006SHANK2c.3318C= (p.Pro1106=)
c.863C= (n.863C=)
c.5085C= (p.Pro1695=)
c.2594C=
c.3948C= (p.Pro1316=)
c.3375C= (p.Pro1125=)
c.3321C= (p.Pro1107=)
c.*89C= (n.*89C=)
c.3297C= (p.Pro1099=)
c.861C=
c.2922C= (p.Pro974=)
n.1837C=
n.939C=
c.5055C= (p.Pro1685=)
c.5097C= (p.Pro1699=)
c.5076C= (p.Pro1692=)
c.5070C= (p.Pro1690=)
c.5049C= (p.Pro1683=)
c.3960C= (p.Pro1320=)
c.5058C= (p.Pro1686=)
n.940C=
11g.70473334G>TCA475470754SHANK2c.3318C>A (p.Pro1106=)
c.863C>A (n.863C>A)
c.5085C>A (p.Pro1695=)
c.2594C>A
c.3948C>A (p.Pro1316=)
c.3375C>A (p.Pro1125=)
c.3321C>A (p.Pro1107=)
c.*89C>A (n.*89C>A)
c.3297C>A (p.Pro1099=)
c.861C>A
c.2922C>A (p.Pro974=)
n.1837C>A
n.939C>A
c.5055C>A (p.Pro1685=)
c.5097C>A (p.Pro1699=)
c.5076C>A (p.Pro1692=)
c.5070C>A (p.Pro1690=)
c.5049C>A (p.Pro1683=)
c.3960C>A (p.Pro1320=)
c.5058C>A (p.Pro1686=)
n.940C>A
 gnomAD v4
11g.70473339dupCA918909353SHANK2c.3318dup (p.Asp1107ArgfsTer3)
c.863dup (n.863dup)
c.5085dup (p.Asp1696ArgfsTer3)
c.2594dup
c.3948dup (p.Asp1317ArgfsTer3)
c.3375dup (p.Asp1126ArgfsTer3)
c.3321dup (p.Asp1108ArgfsTer3)
c.*89dup (n.*89dup)
c.3297dup (p.Asp1100ArgfsTer3)
c.861dup
c.2922dup (p.Asp975ArgfsTer3)
n.1837dup
n.939dup
c.5055dup (p.Asp1686ArgfsTer3)
c.5097dup (p.Asp1700ArgfsTer3)
c.5076dup (p.Asp1693ArgfsTer3)
c.5070dup (p.Asp1691ArgfsTer3)
c.5049dup (p.Asp1684ArgfsTer3)
c.3960dup (p.Asp1321ArgfsTer3)
c.5058dup (p.Asp1687ArgfsTer3)
n.940dup
 dbSNP
11g.70473338_70473339dupCA2792603591SHANK2c.3317_3318dup (p.Asp1107ProfsTer23)
c.862_863dup (n.862_863dup)
c.5084_5085dup (p.Asp1696ProfsTer23)
c.2593_2594dup
c.3947_3948dup (p.Asp1317ProfsTer23)
c.3374_3375dup (p.Asp1126ProfsTer23)
c.3320_3321dup (p.Asp1108ProfsTer23)
c.*88_*89dup (n.*88_*89dup)
c.3296_3297dup (p.Asp1100ProfsTer23)
c.860_861dup
c.2921_2922dup (p.Asp975ProfsTer23)
n.1836_1837dup
n.938_939dup
c.5054_5055dup (p.Asp1686ProfsTer23)
c.5096_5097dup (p.Asp1700ProfsTer23)
c.5075_5076dup (p.Asp1693ProfsTer23)
c.5069_5070dup (p.Asp1691ProfsTer23)
c.5048_5049dup (p.Asp1684ProfsTer23)
c.3959_3960dup (p.Asp1321ProfsTer23)
c.5057_5058dup (p.Asp1687ProfsTer23)
n.939_940dup
11g.70473339delCA2614835680SHANK2c.3318del (p.Asp1107ThrfsTer22)
c.863del (n.863del)
c.5085del (p.Asp1696ThrfsTer22)
c.2594del
c.3948del (p.Asp1317ThrfsTer22)
c.3375del (p.Asp1126ThrfsTer22)
c.3321del (p.Asp1108ThrfsTer22)
c.*89del (n.*89del)
c.3297del (p.Asp1100ThrfsTer22)
c.861del
c.2922del (p.Asp975ThrfsTer22)
n.1837del
n.939del
c.5055del (p.Asp1686ThrfsTer22)
c.5097del (p.Asp1700ThrfsTer22)
c.5076del (p.Asp1693ThrfsTer22)
c.5070del (p.Asp1691ThrfsTer22)
c.5049del (p.Asp1684ThrfsTer22)
c.3960del (p.Asp1321ThrfsTer22)
c.5058del (p.Asp1687ThrfsTer22)
n.940del
 gnomAD v4
11g.70473335G>ACA381676423SHANK2c.3317C>T (p.Pro1106Leu)
c.862C>T (n.862C>T)
c.5084C>T (p.Pro1695Leu)
c.2593C>T
c.3947C>T (p.Pro1316Leu)
c.3374C>T (p.Pro1125Leu)
c.3320C>T (p.Pro1107Leu)
c.*88C>T (n.*88C>T)
c.3296C>T (p.Pro1099Leu)
c.860C>T
c.2921C>T (p.Pro974Leu)
n.1836C>T
n.938C>T
c.5054C>T (p.Pro1685Leu)
c.5096C>T (p.Pro1699Leu)
c.5075C>T (p.Pro1692Leu)
c.5069C>T (p.Pro1690Leu)
c.5048C>T (p.Pro1683Leu)
c.3959C>T (p.Pro1320Leu)
c.5057C>T (p.Pro1686Leu)
n.939C>T
 dbSNP gnomAD v2
11g.70473335G>CCA381676424SHANK2c.3317C>G (p.Pro1106Arg)
c.862C>G (n.862C>G)
c.5084C>G (p.Pro1695Arg)
c.2593C>G
c.3947C>G (p.Pro1316Arg)
c.3374C>G (p.Pro1125Arg)
c.3320C>G (p.Pro1107Arg)
c.*88C>G (n.*88C>G)
c.3296C>G (p.Pro1099Arg)
c.860C>G
c.2921C>G (p.Pro974Arg)
n.1836C>G
n.938C>G
c.5054C>G (p.Pro1685Arg)
c.5096C>G (p.Pro1699Arg)
c.5075C>G (p.Pro1692Arg)
c.5069C>G (p.Pro1690Arg)
c.5048C>G (p.Pro1683Arg)
c.3959C>G (p.Pro1320Arg)
c.5057C>G (p.Pro1686Arg)
n.939C>G
11g.70473335G=CA1981068007SHANK2c.3317C= (p.Pro1106=)
c.862C= (n.862C=)
c.5084C= (p.Pro1695=)
c.2593C=
c.3947C= (p.Pro1316=)
c.3374C= (p.Pro1125=)
c.3320C= (p.Pro1107=)
c.*88C= (n.*88C=)
c.3296C= (p.Pro1099=)
c.860C=
c.2921C= (p.Pro974=)
n.1836C=
n.938C=
c.5054C= (p.Pro1685=)
c.5096C= (p.Pro1699=)
c.5075C= (p.Pro1692=)
c.5069C= (p.Pro1690=)
c.5048C= (p.Pro1683=)
c.3959C= (p.Pro1320=)
c.5057C= (p.Pro1686=)
n.939C=
11g.70473335G>TCA381676425SHANK2c.3317C>A (p.Pro1106His)
c.862C>A (n.862C>A)
c.5084C>A (p.Pro1695His)
c.2593C>A
c.3947C>A (p.Pro1316His)
c.3374C>A (p.Pro1125His)
c.3320C>A (p.Pro1107His)
c.*88C>A (n.*88C>A)
c.3296C>A (p.Pro1099His)
c.860C>A
c.2921C>A (p.Pro974His)
n.1836C>A
n.938C>A
c.5054C>A (p.Pro1685His)
c.5096C>A (p.Pro1699His)
c.5075C>A (p.Pro1692His)
c.5069C>A (p.Pro1690His)
c.5048C>A (p.Pro1683His)
c.3959C>A (p.Pro1320His)
c.5057C>A (p.Pro1686His)
n.939C>A
11g.70473336G>ACA381676426SHANK2c.3316C>T (p.Pro1106Ser)
c.861C>T (n.861C>T)
c.5083C>T (p.Pro1695Ser)
c.2592C>T
c.3946C>T (p.Pro1316Ser)
c.3373C>T (p.Pro1125Ser)
c.3319C>T (p.Pro1107Ser)
c.*87C>T (n.*87C>T)
c.3295C>T (p.Pro1099Ser)
c.859C>T
c.2920C>T (p.Pro974Ser)
n.1835C>T
n.937C>T
c.5053C>T (p.Pro1685Ser)
c.5095C>T (p.Pro1699Ser)
c.5074C>T (p.Pro1692Ser)
c.5068C>T (p.Pro1690Ser)
c.5047C>T (p.Pro1683Ser)
c.3958C>T (p.Pro1320Ser)
c.5056C>T (p.Pro1686Ser)
n.938C>T
 dbSNP gnomAD v4
11g.70473336G>CCA381676427SHANK2c.3316C>G (p.Pro1106Ala)
c.861C>G (n.861C>G)
c.5083C>G (p.Pro1695Ala)
c.2592C>G
c.3946C>G (p.Pro1316Ala)
c.3373C>G (p.Pro1125Ala)
c.3319C>G (p.Pro1107Ala)
c.*87C>G (n.*87C>G)
c.3295C>G (p.Pro1099Ala)
c.859C>G
c.2920C>G (p.Pro974Ala)
n.1835C>G
n.937C>G
c.5053C>G (p.Pro1685Ala)
c.5095C>G (p.Pro1699Ala)
c.5074C>G (p.Pro1692Ala)
c.5068C>G (p.Pro1690Ala)
c.5047C>G (p.Pro1683Ala)
c.3958C>G (p.Pro1320Ala)
c.5056C>G (p.Pro1686Ala)
n.938C>G
11g.70473336G=CA1981068008SHANK2c.3316C= (p.Pro1106=)
c.861C= (n.861C=)
c.5083C= (p.Pro1695=)
c.2592C=
c.3946C= (p.Pro1316=)
c.3373C= (p.Pro1125=)
c.3319C= (p.Pro1107=)
c.*87C= (n.*87C=)
c.3295C= (p.Pro1099=)
c.859C=
c.2920C= (p.Pro974=)
n.1835C=
n.937C=
c.5053C= (p.Pro1685=)
c.5095C= (p.Pro1699=)
c.5074C= (p.Pro1692=)
c.5068C= (p.Pro1690=)
c.5047C= (p.Pro1683=)
c.3958C= (p.Pro1320=)
c.5056C= (p.Pro1686=)
n.938C=
11g.70473336G>TCA381676428SHANK2c.3316C>A (p.Pro1106Thr)
c.861C>A (n.861C>A)
c.5083C>A (p.Pro1695Thr)
c.2592C>A
c.3946C>A (p.Pro1316Thr)
c.3373C>A (p.Pro1125Thr)
c.3319C>A (p.Pro1107Thr)
c.*87C>A (n.*87C>A)
c.3295C>A (p.Pro1099Thr)
c.859C>A
c.2920C>A (p.Pro974Thr)
n.1835C>A
n.937C>A
c.5053C>A (p.Pro1685Thr)
c.5095C>A (p.Pro1699Thr)
c.5074C>A (p.Pro1692Thr)
c.5068C>A (p.Pro1690Thr)
c.5047C>A (p.Pro1683Thr)
c.3958C>A (p.Pro1320Thr)
c.5056C>A (p.Pro1686Thr)
n.938C>A
11g.70473337G>ACA475470755SHANK2c.3315C>T (p.Pro1105=)
c.860C>T (n.860C>T)
c.5082C>T (p.Pro1694=)
c.2591C>T
c.3945C>T (p.Pro1315=)
c.3372C>T (p.Pro1124=)
c.3318C>T (p.Pro1106=)
c.*86C>T (n.*86C>T)
c.3294C>T (p.Pro1098=)
c.858C>T
c.2919C>T (p.Pro973=)
n.1834C>T
n.936C>T
c.5052C>T (p.Pro1684=)
c.5094C>T (p.Pro1698=)
c.5073C>T (p.Pro1691=)
c.5067C>T (p.Pro1689=)
c.5046C>T (p.Pro1682=)
c.3957C>T (p.Pro1319=)
c.5055C>T (p.Pro1685=)
n.937C>T
 gnomAD v4
11g.70473337G>CCA475470756SHANK2c.3315C>G (p.Pro1105=)
c.860C>G (n.860C>G)
c.5082C>G (p.Pro1694=)
c.2591C>G
c.3945C>G (p.Pro1315=)
c.3372C>G (p.Pro1124=)
c.3318C>G (p.Pro1106=)
c.*86C>G (n.*86C>G)
c.3294C>G (p.Pro1098=)
c.858C>G
c.2919C>G (p.Pro973=)
n.1834C>G
n.936C>G
c.5052C>G (p.Pro1684=)
c.5094C>G (p.Pro1698=)
c.5073C>G (p.Pro1691=)
c.5067C>G (p.Pro1689=)
c.5046C>G (p.Pro1682=)
c.3957C>G (p.Pro1319=)
c.5055C>G (p.Pro1685=)
n.937C>G
11g.70473337G>TCA475470757SHANK2c.3315C>A (p.Pro1105=)
c.860C>A (n.860C>A)
c.5082C>A (p.Pro1694=)
c.2591C>A
c.3945C>A (p.Pro1315=)
c.3372C>A (p.Pro1124=)
c.3318C>A (p.Pro1106=)
c.*86C>A (n.*86C>A)
c.3294C>A (p.Pro1098=)
c.858C>A
c.2919C>A (p.Pro973=)
n.1834C>A
n.936C>A
c.5052C>A (p.Pro1684=)
c.5094C>A (p.Pro1698=)
c.5073C>A (p.Pro1691=)
c.5067C>A (p.Pro1689=)
c.5046C>A (p.Pro1682=)
c.3957C>A (p.Pro1319=)
c.5055C>A (p.Pro1685=)
n.937C>A
 gnomAD v4
11g.70473338G>ACA381676429SHANK2c.3314C>T (p.Pro1105Leu)
c.859C>T (n.859C>T)
c.5081C>T (p.Pro1694Leu)
c.2590C>T
c.3944C>T (p.Pro1315Leu)
c.3371C>T (p.Pro1124Leu)
c.3317C>T (p.Pro1106Leu)
c.*85C>T (n.*85C>T)
c.3293C>T (p.Pro1098Leu)
c.857C>T
c.2918C>T (p.Pro973Leu)
n.1833C>T
n.935C>T
c.5051C>T (p.Pro1684Leu)
c.5093C>T (p.Pro1698Leu)
c.5072C>T (p.Pro1691Leu)
c.5066C>T (p.Pro1689Leu)
c.5045C>T (p.Pro1682Leu)
c.3956C>T (p.Pro1319Leu)
c.5054C>T (p.Pro1685Leu)
n.936C>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473338G>CCA381676430SHANK2c.3314C>G (p.Pro1105Arg)
c.859C>G (n.859C>G)
c.5081C>G (p.Pro1694Arg)
c.2590C>G
c.3944C>G (p.Pro1315Arg)
c.3371C>G (p.Pro1124Arg)
c.3317C>G (p.Pro1106Arg)
c.*85C>G (n.*85C>G)
c.3293C>G (p.Pro1098Arg)
c.857C>G
c.2918C>G (p.Pro973Arg)
n.1833C>G
n.935C>G
c.5051C>G (p.Pro1684Arg)
c.5093C>G (p.Pro1698Arg)
c.5072C>G (p.Pro1691Arg)
c.5066C>G (p.Pro1689Arg)
c.5045C>G (p.Pro1682Arg)
c.3956C>G (p.Pro1319Arg)
c.5054C>G (p.Pro1685Arg)
n.936C>G
11g.70473338G=CA1981068009SHANK2c.3314C= (p.Pro1105=)
c.859C= (n.859C=)
c.5081C= (p.Pro1694=)
c.2590C=
c.3944C= (p.Pro1315=)
c.3371C= (p.Pro1124=)
c.3317C= (p.Pro1106=)
c.*85C= (n.*85C=)
c.3293C= (p.Pro1098=)
c.857C=
c.2918C= (p.Pro973=)
n.1833C=
n.935C=
c.5051C= (p.Pro1684=)
c.5093C= (p.Pro1698=)
c.5072C= (p.Pro1691=)
c.5066C= (p.Pro1689=)
c.5045C= (p.Pro1682=)
c.3956C= (p.Pro1319=)
c.5054C= (p.Pro1685=)
n.936C=
11g.70473338G>TCA381676431SHANK2c.3314C>A (p.Pro1105His)
c.859C>A (n.859C>A)
c.5081C>A (p.Pro1694His)
c.2590C>A
c.3944C>A (p.Pro1315His)
c.3371C>A (p.Pro1124His)
c.3317C>A (p.Pro1106His)
c.*85C>A (n.*85C>A)
c.3293C>A (p.Pro1098His)
c.857C>A
c.2918C>A (p.Pro973His)
n.1833C>A
n.935C>A
c.5051C>A (p.Pro1684His)
c.5093C>A (p.Pro1698His)
c.5072C>A (p.Pro1691His)
c.5066C>A (p.Pro1689His)
c.5045C>A (p.Pro1682His)
c.3956C>A (p.Pro1319His)
c.5054C>A (p.Pro1685His)
n.936C>A
11g.70473339G>ACA381676432SHANK2c.3313C>T (p.Pro1105Ser)
c.858C>T (n.858C>T)
c.5080C>T (p.Pro1694Ser)
c.2589C>T
c.3943C>T (p.Pro1315Ser)
c.3370C>T (p.Pro1124Ser)
c.3316C>T (p.Pro1106Ser)
c.*84C>T (n.*84C>T)
c.3292C>T (p.Pro1098Ser)
c.856C>T
c.2917C>T (p.Pro973Ser)
n.1832C>T
n.934C>T
c.5050C>T (p.Pro1684Ser)
c.5092C>T (p.Pro1698Ser)
c.5071C>T (p.Pro1691Ser)
c.5065C>T (p.Pro1689Ser)
c.5044C>T (p.Pro1682Ser)
c.3955C>T (p.Pro1319Ser)
c.5053C>T (p.Pro1685Ser)
n.935C>T
11g.70473339G>CCA381676434SHANK2c.3313C>G (p.Pro1105Ala)
c.858C>G (n.858C>G)
c.5080C>G (p.Pro1694Ala)
c.2589C>G
c.3943C>G (p.Pro1315Ala)
c.3370C>G (p.Pro1124Ala)
c.3316C>G (p.Pro1106Ala)
c.*84C>G (n.*84C>G)
c.3292C>G (p.Pro1098Ala)
c.856C>G
c.2917C>G (p.Pro973Ala)
n.1832C>G
n.934C>G
c.5050C>G (p.Pro1684Ala)
c.5092C>G (p.Pro1698Ala)
c.5071C>G (p.Pro1691Ala)
c.5065C>G (p.Pro1689Ala)
c.5044C>G (p.Pro1682Ala)
c.3955C>G (p.Pro1319Ala)
c.5053C>G (p.Pro1685Ala)
n.935C>G
11g.70473339G>TCA381676433SHANK2c.3313C>A (p.Pro1105Thr)
c.858C>A (n.858C>A)
c.5080C>A (p.Pro1694Thr)
c.2589C>A
c.3943C>A (p.Pro1315Thr)
c.3370C>A (p.Pro1124Thr)
c.3316C>A (p.Pro1106Thr)
c.*84C>A (n.*84C>A)
c.3292C>A (p.Pro1098Thr)
c.856C>A
c.2917C>A (p.Pro973Thr)
n.1832C>A
n.934C>A
c.5050C>A (p.Pro1684Thr)
c.5092C>A (p.Pro1698Thr)
c.5071C>A (p.Pro1691Thr)
c.5065C>A (p.Pro1689Thr)
c.5044C>A (p.Pro1682Thr)
c.3955C>A (p.Pro1319Thr)
c.5053C>A (p.Pro1685Thr)
n.935C>A
 gnomAD v4
11g.70473340C>ACA475470758SHANK2c.3312G>T (p.Arg1104=)
c.857G>T (n.857G>T)
c.5079G>T (p.Arg1693=)
c.2588G>T
c.3942G>T (p.Arg1314=)
c.3369G>T (p.Arg1123=)
c.3315G>T (p.Arg1105=)
c.*83G>T (n.*83G>T)
c.3291G>T (p.Arg1097=)
c.855G>T
c.2916G>T (p.Arg972=)
n.1831G>T
n.933G>T
c.5049G>T (p.Arg1683=)
c.5091G>T (p.Arg1697=)
c.5070G>T (p.Arg1690=)
c.5064G>T (p.Arg1688=)
c.5043G>T (p.Arg1681=)
c.3954G>T (p.Arg1318=)
c.5052G>T (p.Arg1684=)
n.934G>T
11g.70473340C=CA1981068010SHANK2c.3312G= (p.Arg1104=)
c.857G= (n.857G=)
c.5079G= (p.Arg1693=)
c.2588G=
c.3942G= (p.Arg1314=)
c.3369G= (p.Arg1123=)
c.3315G= (p.Arg1105=)
c.*83G= (n.*83G=)
c.3291G= (p.Arg1097=)
c.855G=
c.2916G= (p.Arg972=)
n.1831G=
n.933G=
c.5049G= (p.Arg1683=)
c.5091G= (p.Arg1697=)
c.5070G= (p.Arg1690=)
c.5064G= (p.Arg1688=)
c.5043G= (p.Arg1681=)
c.3954G= (p.Arg1318=)
c.5052G= (p.Arg1684=)
n.934G=
11g.70473340C>GCA475470759SHANK2c.3312G>C (p.Arg1104=)
c.857G>C (n.857G>C)
c.5079G>C (p.Arg1693=)
c.2588G>C
c.3942G>C (p.Arg1314=)
c.3369G>C (p.Arg1123=)
c.3315G>C (p.Arg1105=)
c.*83G>C (n.*83G>C)
c.3291G>C (p.Arg1097=)
c.855G>C
c.2916G>C (p.Arg972=)
n.1831G>C
n.933G>C
c.5049G>C (p.Arg1683=)
c.5091G>C (p.Arg1697=)
c.5070G>C (p.Arg1690=)
c.5064G>C (p.Arg1688=)
c.5043G>C (p.Arg1681=)
c.3954G>C (p.Arg1318=)
c.5052G>C (p.Arg1684=)
n.934G>C
11g.70473340C>TCA475470760SHANK2c.3312G>A (p.Arg1104=)
c.857G>A (n.857G>A)
c.5079G>A (p.Arg1693=)
c.2588G>A
c.3942G>A (p.Arg1314=)
c.3369G>A (p.Arg1123=)
c.3315G>A (p.Arg1105=)
c.*83G>A (n.*83G>A)
c.3291G>A (p.Arg1097=)
c.855G>A
c.2916G>A (p.Arg972=)
n.1831G>A
n.933G>A
c.5049G>A (p.Arg1683=)
c.5091G>A (p.Arg1697=)
c.5070G>A (p.Arg1690=)
c.5064G>A (p.Arg1688=)
c.5043G>A (p.Arg1681=)
c.3954G>A (p.Arg1318=)
c.5052G>A (p.Arg1684=)
n.934G>A
 ClinVar dbSNP gnomAD v4
11g.70473341C>ACA381676435SHANK2c.3311G>T (p.Arg1104Leu)
c.856G>T (n.856G>T)
c.5078G>T (p.Arg1693Leu)
c.2587G>T
c.3941G>T (p.Arg1314Leu)
c.3368G>T (p.Arg1123Leu)
c.3314G>T (p.Arg1105Leu)
c.*82G>T (n.*82G>T)
c.3290G>T (p.Arg1097Leu)
c.854G>T
c.2915G>T (p.Arg972Leu)
n.1830G>T
n.932G>T
c.5048G>T (p.Arg1683Leu)
c.5090G>T (p.Arg1697Leu)
c.5069G>T (p.Arg1690Leu)
c.5063G>T (p.Arg1688Leu)
c.5042G>T (p.Arg1681Leu)
c.3953G>T (p.Arg1318Leu)
c.5051G>T (p.Arg1684Leu)
n.933G>T
 dbSNP
11g.70473341C=CA1981068011SHANK2c.3311G= (p.Arg1104=)
c.856G= (n.856G=)
c.5078G= (p.Arg1693=)
c.2587G=
c.3941G= (p.Arg1314=)
c.3368G= (p.Arg1123=)
c.3314G= (p.Arg1105=)
c.*82G= (n.*82G=)
c.3290G= (p.Arg1097=)
c.854G=
c.2915G= (p.Arg972=)
n.1830G=
n.932G=
c.5048G= (p.Arg1683=)
c.5090G= (p.Arg1697=)
c.5069G= (p.Arg1690=)
c.5063G= (p.Arg1688=)
c.5042G= (p.Arg1681=)
c.3953G= (p.Arg1318=)
c.5051G= (p.Arg1684=)
n.933G=
11g.70473341C>GCA381676436SHANK2c.3311G>C (p.Arg1104Pro)
c.856G>C (n.856G>C)
c.5078G>C (p.Arg1693Pro)
c.2587G>C
c.3941G>C (p.Arg1314Pro)
c.3368G>C (p.Arg1123Pro)
c.3314G>C (p.Arg1105Pro)
c.*82G>C (n.*82G>C)
c.3290G>C (p.Arg1097Pro)
c.854G>C
c.2915G>C (p.Arg972Pro)
n.1830G>C
n.932G>C
c.5048G>C (p.Arg1683Pro)
c.5090G>C (p.Arg1697Pro)
c.5069G>C (p.Arg1690Pro)
c.5063G>C (p.Arg1688Pro)
c.5042G>C (p.Arg1681Pro)
c.3953G>C (p.Arg1318Pro)
c.5051G>C (p.Arg1684Pro)
n.933G>C
11g.70473341C>TCA6160776SHANK2c.3311G>A (p.Arg1104Gln)
c.856G>A (n.856G>A)
c.5078G>A (p.Arg1693Gln)
c.2587G>A
c.3941G>A (p.Arg1314Gln)
c.3368G>A (p.Arg1123Gln)
c.3314G>A (p.Arg1105Gln)
c.*82G>A (n.*82G>A)
c.3290G>A (p.Arg1097Gln)
c.854G>A
c.2915G>A (p.Arg972Gln)
n.1830G>A
n.932G>A
c.5048G>A (p.Arg1683Gln)
c.5090G>A (p.Arg1697Gln)
c.5069G>A (p.Arg1690Gln)
c.5063G>A (p.Arg1688Gln)
c.5042G>A (p.Arg1681Gln)
c.3953G>A (p.Arg1318Gln)
c.5051G>A (p.Arg1684Gln)
n.933G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473342G>ACA6160777SHANK2c.3310C>T (p.Arg1104Trp)
c.855C>T (n.855C>T)
c.5077C>T (p.Arg1693Trp)
c.2586C>T
c.3940C>T (p.Arg1314Trp)
c.3367C>T (p.Arg1123Trp)
c.3313C>T (p.Arg1105Trp)
c.*81C>T (n.*81C>T)
c.3289C>T (p.Arg1097Trp)
c.853C>T
c.2914C>T (p.Arg972Trp)
n.1829C>T
n.931C>T
c.5047C>T (p.Arg1683Trp)
c.5089C>T (p.Arg1697Trp)
c.5068C>T (p.Arg1690Trp)
c.5062C>T (p.Arg1688Trp)
c.5041C>T (p.Arg1681Trp)
c.3952C>T (p.Arg1318Trp)
c.5050C>T (p.Arg1684Trp)
n.932C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473342G>CCA381676437SHANK2c.3310C>G (p.Arg1104Gly)
c.855C>G (n.855C>G)
c.5077C>G (p.Arg1693Gly)
c.2586C>G
c.3940C>G (p.Arg1314Gly)
c.3367C>G (p.Arg1123Gly)
c.3313C>G (p.Arg1105Gly)
c.*81C>G (n.*81C>G)
c.3289C>G (p.Arg1097Gly)
c.853C>G
c.2914C>G (p.Arg972Gly)
n.1829C>G
n.931C>G
c.5047C>G (p.Arg1683Gly)
c.5089C>G (p.Arg1697Gly)
c.5068C>G (p.Arg1690Gly)
c.5062C>G (p.Arg1688Gly)
c.5041C>G (p.Arg1681Gly)
c.3952C>G (p.Arg1318Gly)
c.5050C>G (p.Arg1684Gly)
n.932C>G
11g.70473342G=CA1981068012SHANK2c.3310C= (p.Arg1104=)
c.855C= (n.855C=)
c.5077C= (p.Arg1693=)
c.2586C=
c.3940C= (p.Arg1314=)
c.3367C= (p.Arg1123=)
c.3313C= (p.Arg1105=)
c.*81C= (n.*81C=)
c.3289C= (p.Arg1097=)
c.853C=
c.2914C= (p.Arg972=)
n.1829C=
n.931C=
c.5047C= (p.Arg1683=)
c.5089C= (p.Arg1697=)
c.5068C= (p.Arg1690=)
c.5062C= (p.Arg1688=)
c.5041C= (p.Arg1681=)
c.3952C= (p.Arg1318=)
c.5050C= (p.Arg1684=)
n.932C=
11g.70473342G>TCA475470761SHANK2c.3310C>A (p.Arg1104=)
c.855C>A (n.855C>A)
c.5077C>A (p.Arg1693=)
c.2586C>A
c.3940C>A (p.Arg1314=)
c.3367C>A (p.Arg1123=)
c.3313C>A (p.Arg1105=)
c.*81C>A (n.*81C>A)
c.3289C>A (p.Arg1097=)
c.853C>A
c.2914C>A (p.Arg972=)
n.1829C>A
n.931C>A
c.5047C>A (p.Arg1683=)
c.5089C>A (p.Arg1697=)
c.5068C>A (p.Arg1690=)
c.5062C>A (p.Arg1688=)
c.5041C>A (p.Arg1681=)
c.3952C>A (p.Arg1318=)
c.5050C>A (p.Arg1684=)
n.932C>A
11g.70473343G>ACA475470762SHANK2c.3309C>T (p.Ser1103=)
c.854C>T (n.854C>T)
c.5076C>T (p.Ser1692=)
c.2585C>T
c.3939C>T (p.Ser1313=)
c.3366C>T (p.Ser1122=)
c.3312C>T (p.Ser1104=)
c.*80C>T (n.*80C>T)
c.3288C>T (p.Ser1096=)
c.852C>T
c.2913C>T (p.Ser971=)
n.1828C>T
n.930C>T
c.5046C>T (p.Ser1682=)
c.5088C>T (p.Ser1696=)
c.5067C>T (p.Ser1689=)
c.5061C>T (p.Ser1687=)
c.5040C>T (p.Ser1680=)
c.3951C>T (p.Ser1317=)
c.5049C>T (p.Ser1683=)
n.931C>T
 dbSNP
11g.70473343G>CCA381676438SHANK2c.3309C>G (p.Ser1103Arg)
c.854C>G (n.854C>G)
c.5076C>G (p.Ser1692Arg)
c.2585C>G
c.3939C>G (p.Ser1313Arg)
c.3366C>G (p.Ser1122Arg)
c.3312C>G (p.Ser1104Arg)
c.*80C>G (n.*80C>G)
c.3288C>G (p.Ser1096Arg)
c.852C>G
c.2913C>G (p.Ser971Arg)
n.1828C>G
n.930C>G
c.5046C>G (p.Ser1682Arg)
c.5088C>G (p.Ser1696Arg)
c.5067C>G (p.Ser1689Arg)
c.5061C>G (p.Ser1687Arg)
c.5040C>G (p.Ser1680Arg)
c.3951C>G (p.Ser1317Arg)
c.5049C>G (p.Ser1683Arg)
n.931C>G
11g.70473343G=CA1981068013SHANK2c.3309C= (p.Ser1103=)
c.854C= (n.854C=)
c.5076C= (p.Ser1692=)
c.2585C=
c.3939C= (p.Ser1313=)
c.3366C= (p.Ser1122=)
c.3312C= (p.Ser1104=)
c.*80C= (n.*80C=)
c.3288C= (p.Ser1096=)
c.852C=
c.2913C= (p.Ser971=)
n.1828C=
n.930C=
c.5046C= (p.Ser1682=)
c.5088C= (p.Ser1696=)
c.5067C= (p.Ser1689=)
c.5061C= (p.Ser1687=)
c.5040C= (p.Ser1680=)
c.3951C= (p.Ser1317=)
c.5049C= (p.Ser1683=)
n.931C=
11g.70473343G>TCA381676439SHANK2c.3309C>A (p.Ser1103Arg)
c.854C>A (n.854C>A)
c.5076C>A (p.Ser1692Arg)
c.2585C>A
c.3939C>A (p.Ser1313Arg)
c.3366C>A (p.Ser1122Arg)
c.3312C>A (p.Ser1104Arg)
c.*80C>A (n.*80C>A)
c.3288C>A (p.Ser1096Arg)
c.852C>A
c.2913C>A (p.Ser971Arg)
n.1828C>A
n.930C>A
c.5046C>A (p.Ser1682Arg)
c.5088C>A (p.Ser1696Arg)
c.5067C>A (p.Ser1689Arg)
c.5061C>A (p.Ser1687Arg)
c.5040C>A (p.Ser1680Arg)
c.3951C>A (p.Ser1317Arg)
c.5049C>A (p.Ser1683Arg)
n.931C>A
 gnomAD v4
11g.70473344C>ACA381676440SHANK2c.3308G>T (p.Ser1103Ile)
c.853G>T (n.853G>T)
c.5075G>T (p.Ser1692Ile)
c.2584G>T
c.3938G>T (p.Ser1313Ile)
c.3365G>T (p.Ser1122Ile)
c.3311G>T (p.Ser1104Ile)
c.*79G>T (n.*79G>T)
c.3287G>T (p.Ser1096Ile)
c.851G>T
c.2912G>T (p.Ser971Ile)
n.1827G>T
n.929G>T
c.5045G>T (p.Ser1682Ile)
c.5087G>T (p.Ser1696Ile)
c.5066G>T (p.Ser1689Ile)
c.5060G>T (p.Ser1687Ile)
c.5039G>T (p.Ser1680Ile)
c.3950G>T (p.Ser1317Ile)
c.5048G>T (p.Ser1683Ile)
n.930G>T
11g.70473344C=CA1981068014SHANK2c.3308G= (p.Ser1103=)
c.853G= (n.853G=)
c.5075G= (p.Ser1692=)
c.2584G=
c.3938G= (p.Ser1313=)
c.3365G= (p.Ser1122=)
c.3311G= (p.Ser1104=)
c.*79G= (n.*79G=)
c.3287G= (p.Ser1096=)
c.851G=
c.2912G= (p.Ser971=)
n.1827G=
n.929G=
c.5045G= (p.Ser1682=)
c.5087G= (p.Ser1696=)
c.5066G= (p.Ser1689=)
c.5060G= (p.Ser1687=)
c.5039G= (p.Ser1680=)
c.3950G= (p.Ser1317=)
c.5048G= (p.Ser1683=)
n.930G=
11g.70473344C>GCA381676441SHANK2c.3308G>C (p.Ser1103Thr)
c.853G>C (n.853G>C)
c.5075G>C (p.Ser1692Thr)
c.2584G>C
c.3938G>C (p.Ser1313Thr)
c.3365G>C (p.Ser1122Thr)
c.3311G>C (p.Ser1104Thr)
c.*79G>C (n.*79G>C)
c.3287G>C (p.Ser1096Thr)
c.851G>C
c.2912G>C (p.Ser971Thr)
n.1827G>C
n.929G>C
c.5045G>C (p.Ser1682Thr)
c.5087G>C (p.Ser1696Thr)
c.5066G>C (p.Ser1689Thr)
c.5060G>C (p.Ser1687Thr)
c.5039G>C (p.Ser1680Thr)
c.3950G>C (p.Ser1317Thr)
c.5048G>C (p.Ser1683Thr)
n.930G>C
11g.70473344C>TCA381676442SHANK2c.3308G>A (p.Ser1103Asn)
c.853G>A (n.853G>A)
c.5075G>A (p.Ser1692Asn)
c.2584G>A
c.3938G>A (p.Ser1313Asn)
c.3365G>A (p.Ser1122Asn)
c.3311G>A (p.Ser1104Asn)
c.*79G>A (n.*79G>A)
c.3287G>A (p.Ser1096Asn)
c.851G>A
c.2912G>A (p.Ser971Asn)
n.1827G>A
n.929G>A
c.5045G>A (p.Ser1682Asn)
c.5087G>A (p.Ser1696Asn)
c.5066G>A (p.Ser1689Asn)
c.5060G>A (p.Ser1687Asn)
c.5039G>A (p.Ser1680Asn)
c.3950G>A (p.Ser1317Asn)
c.5048G>A (p.Ser1683Asn)
n.930G>A
 dbSNP
11g.70473345T>ACA381676443SHANK2c.3307A>T (p.Ser1103Cys)
c.852A>T (n.852A>T)
c.5074A>T (p.Ser1692Cys)
c.2583A>T
c.3937A>T (p.Ser1313Cys)
c.3364A>T (p.Ser1122Cys)
c.3310A>T (p.Ser1104Cys)
c.*78A>T (n.*78A>T)
c.3286A>T (p.Ser1096Cys)
c.850A>T
c.2911A>T (p.Ser971Cys)
n.1826A>T
n.928A>T
c.5044A>T (p.Ser1682Cys)
c.5086A>T (p.Ser1696Cys)
c.5065A>T (p.Ser1689Cys)
c.5059A>T (p.Ser1687Cys)
c.5038A>T (p.Ser1680Cys)
c.3949A>T (p.Ser1317Cys)
c.5047A>T (p.Ser1683Cys)
n.929A>T
11g.70473345T>CCA381676444SHANK2c.3307A>G (p.Ser1103Gly)
c.852A>G (n.852A>G)
c.5074A>G (p.Ser1692Gly)
c.2583A>G
c.3937A>G (p.Ser1313Gly)
c.3364A>G (p.Ser1122Gly)
c.3310A>G (p.Ser1104Gly)
c.*78A>G (n.*78A>G)
c.3286A>G (p.Ser1096Gly)
c.850A>G
c.2911A>G (p.Ser971Gly)
n.1826A>G
n.928A>G
c.5044A>G (p.Ser1682Gly)
c.5086A>G (p.Ser1696Gly)
c.5065A>G (p.Ser1689Gly)
c.5059A>G (p.Ser1687Gly)
c.5038A>G (p.Ser1680Gly)
c.3949A>G (p.Ser1317Gly)
c.5047A>G (p.Ser1683Gly)
n.929A>G
11g.70473345T>GCA381676445SHANK2c.3307A>C (p.Ser1103Arg)
c.852A>C (n.852A>C)
c.5074A>C (p.Ser1692Arg)
c.2583A>C
c.3937A>C (p.Ser1313Arg)
c.3364A>C (p.Ser1122Arg)
c.3310A>C (p.Ser1104Arg)
c.*78A>C (n.*78A>C)
c.3286A>C (p.Ser1096Arg)
c.850A>C
c.2911A>C (p.Ser971Arg)
n.1826A>C
n.928A>C
c.5044A>C (p.Ser1682Arg)
c.5086A>C (p.Ser1696Arg)
c.5065A>C (p.Ser1689Arg)
c.5059A>C (p.Ser1687Arg)
c.5038A>C (p.Ser1680Arg)
c.3949A>C (p.Ser1317Arg)
c.5047A>C (p.Ser1683Arg)
n.929A>C
11g.70473346C>ACA381676448SHANK2c.3306G>T (p.Gln1102His)
c.851G>T (n.851G>T)
c.5073G>T (p.Gln1691His)
c.2582G>T
c.3936G>T (p.Gln1312His)
c.3363G>T (p.Gln1121His)
c.3309G>T (p.Gln1103His)
c.*77G>T (n.*77G>T)
c.3285G>T (p.Gln1095His)
c.849G>T
c.2910G>T (p.Gln970His)
n.1825G>T
n.927G>T
c.5043G>T (p.Gln1681His)
c.5085G>T (p.Gln1695His)
c.5064G>T (p.Gln1688His)
c.5058G>T (p.Gln1686His)
c.5037G>T (p.Gln1679His)
c.3948G>T (p.Gln1316His)
c.5046G>T (p.Gln1682His)
n.928G>T
11g.70473346C=CA1981068015SHANK2c.3306G= (p.Gln1102=)
c.851G= (n.851G=)
c.5073G= (p.Gln1691=)
c.2582G=
c.3936G= (p.Gln1312=)
c.3363G= (p.Gln1121=)
c.3309G= (p.Gln1103=)
c.*77G= (n.*77G=)
c.3285G= (p.Gln1095=)
c.849G=
c.2910G= (p.Gln970=)
n.1825G=
n.927G=
c.5043G= (p.Gln1681=)
c.5085G= (p.Gln1695=)
c.5064G= (p.Gln1688=)
c.5058G= (p.Gln1686=)
c.5037G= (p.Gln1679=)
c.3948G= (p.Gln1316=)
c.5046G= (p.Gln1682=)
n.928G=
11g.70473346C>GCA381676446SHANK2c.3306G>C (p.Gln1102His)
c.851G>C (n.851G>C)
c.5073G>C (p.Gln1691His)
c.2582G>C
c.3936G>C (p.Gln1312His)
c.3363G>C (p.Gln1121His)
c.3309G>C (p.Gln1103His)
c.*77G>C (n.*77G>C)
c.3285G>C (p.Gln1095His)
c.849G>C
c.2910G>C (p.Gln970His)
n.1825G>C
n.927G>C
c.5043G>C (p.Gln1681His)
c.5085G>C (p.Gln1695His)
c.5064G>C (p.Gln1688His)
c.5058G>C (p.Gln1686His)
c.5037G>C (p.Gln1679His)
c.3948G>C (p.Gln1316His)
c.5046G>C (p.Gln1682His)
n.928G>C
11g.70473346C>TCA475470763SHANK2c.3306G>A (p.Gln1102=)
c.851G>A (n.851G>A)
c.5073G>A (p.Gln1691=)
c.2582G>A
c.3936G>A (p.Gln1312=)
c.3363G>A (p.Gln1121=)
c.3309G>A (p.Gln1103=)
c.*77G>A (n.*77G>A)
c.3285G>A (p.Gln1095=)
c.849G>A
c.2910G>A (p.Gln970=)
n.1825G>A
n.927G>A
c.5043G>A (p.Gln1681=)
c.5085G>A (p.Gln1695=)
c.5064G>A (p.Gln1688=)
c.5058G>A (p.Gln1686=)
c.5037G>A (p.Gln1679=)
c.3948G>A (p.Gln1316=)
c.5046G>A (p.Gln1682=)
n.928G>A
 dbSNP COSMIC COSMIC
11g.70473347T>ACA381676449SHANK2c.3305A>T (p.Gln1102Leu)
c.850A>T (n.850A>T)
c.5072A>T (p.Gln1691Leu)
c.2581A>T
c.3935A>T (p.Gln1312Leu)
c.3362A>T (p.Gln1121Leu)
c.3308A>T (p.Gln1103Leu)
c.*76A>T (n.*76A>T)
c.3284A>T (p.Gln1095Leu)
c.848A>T
c.2909A>T (p.Gln970Leu)
n.1824A>T
n.926A>T
c.5042A>T (p.Gln1681Leu)
c.5084A>T (p.Gln1695Leu)
c.5063A>T (p.Gln1688Leu)
c.5057A>T (p.Gln1686Leu)
c.5036A>T (p.Gln1679Leu)
c.3947A>T (p.Gln1316Leu)
c.5045A>T (p.Gln1682Leu)
n.927A>T
11g.70473347T>CCA381676451SHANK2c.3305A>G (p.Gln1102Arg)
c.850A>G (n.850A>G)
c.5072A>G (p.Gln1691Arg)
c.2581A>G
c.3935A>G (p.Gln1312Arg)
c.3362A>G (p.Gln1121Arg)
c.3308A>G (p.Gln1103Arg)
c.*76A>G (n.*76A>G)
c.3284A>G (p.Gln1095Arg)
c.848A>G
c.2909A>G (p.Gln970Arg)
n.1824A>G
n.926A>G
c.5042A>G (p.Gln1681Arg)
c.5084A>G (p.Gln1695Arg)
c.5063A>G (p.Gln1688Arg)
c.5057A>G (p.Gln1686Arg)
c.5036A>G (p.Gln1679Arg)
c.3947A>G (p.Gln1316Arg)
c.5045A>G (p.Gln1682Arg)
n.927A>G
 gnomAD v4
11g.70473347T>GCA381676453SHANK2c.3305A>C (p.Gln1102Pro)
c.850A>C (n.850A>C)
c.5072A>C (p.Gln1691Pro)
c.2581A>C
c.3935A>C (p.Gln1312Pro)
c.3362A>C (p.Gln1121Pro)
c.3308A>C (p.Gln1103Pro)
c.*76A>C (n.*76A>C)
c.3284A>C (p.Gln1095Pro)
c.848A>C
c.2909A>C (p.Gln970Pro)
n.1824A>C
n.926A>C
c.5042A>C (p.Gln1681Pro)
c.5084A>C (p.Gln1695Pro)
c.5063A>C (p.Gln1688Pro)
c.5057A>C (p.Gln1686Pro)
c.5036A>C (p.Gln1679Pro)
c.3947A>C (p.Gln1316Pro)
c.5045A>C (p.Gln1682Pro)
n.927A>C
11g.70473348G>ACA381676455SHANK2c.3304C>T (p.Gln1102Ter)
c.849C>T (n.849C>T)
c.5071C>T (p.Gln1691Ter)
c.2580C>T
c.3934C>T (p.Gln1312Ter)
c.3361C>T (p.Gln1121Ter)
c.3307C>T (p.Gln1103Ter)
c.*75C>T (n.*75C>T)
c.3283C>T (p.Gln1095Ter)
c.847C>T
c.2908C>T (p.Gln970Ter)
n.1823C>T
n.925C>T
c.5041C>T (p.Gln1681Ter)
c.5083C>T (p.Gln1695Ter)
c.5062C>T (p.Gln1688Ter)
c.5056C>T (p.Gln1686Ter)
c.5035C>T (p.Gln1679Ter)
c.3946C>T (p.Gln1316Ter)
c.5044C>T (p.Gln1682Ter)
n.926C>T
11g.70473348G>CCA381676457SHANK2c.3304C>G (p.Gln1102Glu)
c.849C>G (n.849C>G)
c.5071C>G (p.Gln1691Glu)
c.2580C>G
c.3934C>G (p.Gln1312Glu)
c.3361C>G (p.Gln1121Glu)
c.3307C>G (p.Gln1103Glu)
c.*75C>G (n.*75C>G)
c.3283C>G (p.Gln1095Glu)
c.847C>G
c.2908C>G (p.Gln970Glu)
n.1823C>G
n.925C>G
c.5041C>G (p.Gln1681Glu)
c.5083C>G (p.Gln1695Glu)
c.5062C>G (p.Gln1688Glu)
c.5056C>G (p.Gln1686Glu)
c.5035C>G (p.Gln1679Glu)
c.3946C>G (p.Gln1316Glu)
c.5044C>G (p.Gln1682Glu)
n.926C>G
11g.70473348G=CA1981068016SHANK2c.3304C= (p.Gln1102=)
c.849C= (n.849C=)
c.5071C= (p.Gln1691=)
c.2580C=
c.3934C= (p.Gln1312=)
c.3361C= (p.Gln1121=)
c.3307C= (p.Gln1103=)
c.*75C= (n.*75C=)
c.3283C= (p.Gln1095=)
c.847C=
c.2908C= (p.Gln970=)
n.1823C=
n.925C=
c.5041C= (p.Gln1681=)
c.5083C= (p.Gln1695=)
c.5062C= (p.Gln1688=)
c.5056C= (p.Gln1686=)
c.5035C= (p.Gln1679=)
c.3946C= (p.Gln1316=)
c.5044C= (p.Gln1682=)
n.926C=
11g.70473348G>TCA223591866SHANK2c.3304C>A (p.Gln1102Lys)
c.849C>A (n.849C>A)
c.5071C>A (p.Gln1691Lys)
c.2580C>A
c.3934C>A (p.Gln1312Lys)
c.3361C>A (p.Gln1121Lys)
c.3307C>A (p.Gln1103Lys)
c.*75C>A (n.*75C>A)
c.3283C>A (p.Gln1095Lys)
c.847C>A
c.2908C>A (p.Gln970Lys)
n.1823C>A
n.925C>A
c.5041C>A (p.Gln1681Lys)
c.5083C>A (p.Gln1695Lys)
c.5062C>A (p.Gln1688Lys)
c.5056C>A (p.Gln1686Lys)
c.5035C>A (p.Gln1679Lys)
c.3946C>A (p.Gln1316Lys)
c.5044C>A (p.Gln1682Lys)
n.926C>A
 dbSNP
11g.70473349C>ACA475470766SHANK2c.3303G>T (p.Leu1101=)
c.848G>T (n.848G>T)
c.5070G>T (p.Leu1690=)
c.2579G>T
c.3933G>T (p.Leu1311=)
c.3360G>T (p.Leu1120=)
c.3306G>T (p.Leu1102=)
c.*74G>T (n.*74G>T)
c.3282G>T (p.Leu1094=)
c.846G>T
c.2907G>T (p.Leu969=)
n.1822G>T
n.924G>T
c.5040G>T (p.Leu1680=)
c.5082G>T (p.Leu1694=)
c.5061G>T (p.Leu1687=)
c.5055G>T (p.Leu1685=)
c.5034G>T (p.Leu1678=)
c.3945G>T (p.Leu1315=)
c.5043G>T (p.Leu1681=)
n.925G>T
11g.70473349C=CA1981068017SHANK2c.3303G= (p.Leu1101=)
c.848G= (n.848G=)
c.5070G= (p.Leu1690=)
c.2579G=
c.3933G= (p.Leu1311=)
c.3360G= (p.Leu1120=)
c.3306G= (p.Leu1102=)
c.*74G= (n.*74G=)
c.3282G= (p.Leu1094=)
c.846G=
c.2907G= (p.Leu969=)
n.1822G=
n.924G=
c.5040G= (p.Leu1680=)
c.5082G= (p.Leu1694=)
c.5061G= (p.Leu1687=)
c.5055G= (p.Leu1685=)
c.5034G= (p.Leu1678=)
c.3945G= (p.Leu1315=)
c.5043G= (p.Leu1681=)
n.925G=
11g.70473349C>GCA475470765SHANK2c.3303G>C (p.Leu1101=)
c.848G>C (n.848G>C)
c.5070G>C (p.Leu1690=)
c.2579G>C
c.3933G>C (p.Leu1311=)
c.3360G>C (p.Leu1120=)
c.3306G>C (p.Leu1102=)
c.*74G>C (n.*74G>C)
c.3282G>C (p.Leu1094=)
c.846G>C
c.2907G>C (p.Leu969=)
n.1822G>C
n.924G>C
c.5040G>C (p.Leu1680=)
c.5082G>C (p.Leu1694=)
c.5061G>C (p.Leu1687=)
c.5055G>C (p.Leu1685=)
c.5034G>C (p.Leu1678=)
c.3945G>C (p.Leu1315=)
c.5043G>C (p.Leu1681=)
n.925G>C
11g.70473349C>TCA475470764SHANK2c.3303G>A (p.Leu1101=)
c.848G>A (n.848G>A)
c.5070G>A (p.Leu1690=)
c.2579G>A
c.3933G>A (p.Leu1311=)
c.3360G>A (p.Leu1120=)
c.3306G>A (p.Leu1102=)
c.*74G>A (n.*74G>A)
c.3282G>A (p.Leu1094=)
c.846G>A
c.2907G>A (p.Leu969=)
n.1822G>A
n.924G>A
c.5040G>A (p.Leu1680=)
c.5082G>A (p.Leu1694=)
c.5061G>A (p.Leu1687=)
c.5055G>A (p.Leu1685=)
c.5034G>A (p.Leu1678=)
c.3945G>A (p.Leu1315=)
c.5043G>A (p.Leu1681=)
n.925G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70473350A>CCA381676460SHANK2c.3302T>G (p.Leu1101Arg)
c.847T>G (n.847T>G)
c.5069T>G (p.Leu1690Arg)
c.2578T>G
c.3932T>G (p.Leu1311Arg)
c.3359T>G (p.Leu1120Arg)
c.3305T>G (p.Leu1102Arg)
c.*73T>G (n.*73T>G)
c.3281T>G (p.Leu1094Arg)
c.845T>G
c.2906T>G (p.Leu969Arg)
n.1821T>G
n.923T>G
c.5039T>G (p.Leu1680Arg)
c.5081T>G (p.Leu1694Arg)
c.5060T>G (p.Leu1687Arg)
c.5054T>G (p.Leu1685Arg)
c.5033T>G (p.Leu1678Arg)
c.3944T>G (p.Leu1315Arg)
c.5042T>G (p.Leu1681Arg)
n.924T>G
11g.70473350A>GCA381676462SHANK2c.3302T>C (p.Leu1101Pro)
c.847T>C (n.847T>C)
c.5069T>C (p.Leu1690Pro)
c.2578T>C
c.3932T>C (p.Leu1311Pro)
c.3359T>C (p.Leu1120Pro)
c.3305T>C (p.Leu1102Pro)
c.*73T>C (n.*73T>C)
c.3281T>C (p.Leu1094Pro)
c.845T>C
c.2906T>C (p.Leu969Pro)
n.1821T>C
n.923T>C
c.5039T>C (p.Leu1680Pro)
c.5081T>C (p.Leu1694Pro)
c.5060T>C (p.Leu1687Pro)
c.5054T>C (p.Leu1685Pro)
c.5033T>C (p.Leu1678Pro)
c.3944T>C (p.Leu1315Pro)
c.5042T>C (p.Leu1681Pro)
n.924T>C
11g.70473350A>TCA381676464SHANK2c.3302T>A (p.Leu1101Gln)
c.847T>A (n.847T>A)
c.5069T>A (p.Leu1690Gln)
c.2578T>A
c.3932T>A (p.Leu1311Gln)
c.3359T>A (p.Leu1120Gln)
c.3305T>A (p.Leu1102Gln)
c.*73T>A (n.*73T>A)
c.3281T>A (p.Leu1094Gln)
c.845T>A
c.2906T>A (p.Leu969Gln)
n.1821T>A
n.923T>A
c.5039T>A (p.Leu1680Gln)
c.5081T>A (p.Leu1694Gln)
c.5060T>A (p.Leu1687Gln)
c.5054T>A (p.Leu1685Gln)
c.5033T>A (p.Leu1678Gln)
c.3944T>A (p.Leu1315Gln)
c.5042T>A (p.Leu1681Gln)
n.924T>A
11g.70473351G>ACA475470767SHANK2c.3301C>T (p.Leu1101=)
c.846C>T (n.846C>T)
c.5068C>T (p.Leu1690=)
c.2577C>T
c.3931C>T (p.Leu1311=)
c.3358C>T (p.Leu1120=)
c.3304C>T (p.Leu1102=)
c.*72C>T (n.*72C>T)
c.3280C>T (p.Leu1094=)
c.844C>T
c.2905C>T (p.Leu969=)
n.1820C>T
n.922C>T
c.5038C>T (p.Leu1680=)
c.5080C>T (p.Leu1694=)
c.5059C>T (p.Leu1687=)
c.5053C>T (p.Leu1685=)
c.5032C>T (p.Leu1678=)
c.3943C>T (p.Leu1315=)
c.5041C>T (p.Leu1681=)
n.923C>T
11g.70473351G>CCA381676466SHANK2c.3301C>G (p.Leu1101Val)
c.846C>G (n.846C>G)
c.5068C>G (p.Leu1690Val)
c.2577C>G
c.3931C>G (p.Leu1311Val)
c.3358C>G (p.Leu1120Val)
c.3304C>G (p.Leu1102Val)
c.*72C>G (n.*72C>G)
c.3280C>G (p.Leu1094Val)
c.844C>G
c.2905C>G (p.Leu969Val)
n.1820C>G
n.922C>G
c.5038C>G (p.Leu1680Val)
c.5080C>G (p.Leu1694Val)
c.5059C>G (p.Leu1687Val)
c.5053C>G (p.Leu1685Val)
c.5032C>G (p.Leu1678Val)
c.3943C>G (p.Leu1315Val)
c.5041C>G (p.Leu1681Val)
n.923C>G
 gnomAD v4
11g.70473351G>TCA381676468SHANK2c.3301C>A (p.Leu1101Met)
c.846C>A (n.846C>A)
c.5068C>A (p.Leu1690Met)
c.2577C>A
c.3931C>A (p.Leu1311Met)
c.3358C>A (p.Leu1120Met)
c.3304C>A (p.Leu1102Met)
c.*72C>A (n.*72C>A)
c.3280C>A (p.Leu1094Met)
c.844C>A
c.2905C>A (p.Leu969Met)
n.1820C>A
n.922C>A
c.5038C>A (p.Leu1680Met)
c.5080C>A (p.Leu1694Met)
c.5059C>A (p.Leu1687Met)
c.5053C>A (p.Leu1685Met)
c.5032C>A (p.Leu1678Met)
c.3943C>A (p.Leu1315Met)
c.5041C>A (p.Leu1681Met)
n.923C>A
11g.70473352G>ACA475470768SHANK2c.3300C>T (p.Thr1100=)
c.845C>T (n.845C>T)
c.5067C>T (p.Thr1689=)
c.2576C>T
c.3930C>T (p.Thr1310=)
c.3357C>T (p.Thr1119=)
c.3303C>T (p.Thr1101=)
c.*71C>T (n.*71C>T)
c.3279C>T (p.Thr1093=)
c.843C>T
c.2904C>T (p.Thr968=)
n.1819C>T
n.921C>T
c.5037C>T (p.Thr1679=)
c.5079C>T (p.Thr1693=)
c.5058C>T (p.Thr1686=)
c.5052C>T (p.Thr1684=)
c.5031C>T (p.Thr1677=)
c.3942C>T (p.Thr1314=)
c.5040C>T (p.Thr1680=)
n.922C>T
11g.70473352G>CCA475470769SHANK2c.3300C>G (p.Thr1100=)
c.845C>G (n.845C>G)
c.5067C>G (p.Thr1689=)
c.2576C>G
c.3930C>G (p.Thr1310=)
c.3357C>G (p.Thr1119=)
c.3303C>G (p.Thr1101=)
c.*71C>G (n.*71C>G)
c.3279C>G (p.Thr1093=)
c.843C>G
c.2904C>G (p.Thr968=)
n.1819C>G
n.921C>G
c.5037C>G (p.Thr1679=)
c.5079C>G (p.Thr1693=)
c.5058C>G (p.Thr1686=)
c.5052C>G (p.Thr1684=)
c.5031C>G (p.Thr1677=)
c.3942C>G (p.Thr1314=)
c.5040C>G (p.Thr1680=)
n.922C>G
11g.70473352G>TCA475470770SHANK2c.3300C>A (p.Thr1100=)
c.845C>A (n.845C>A)
c.5067C>A (p.Thr1689=)
c.2576C>A
c.3930C>A (p.Thr1310=)
c.3357C>A (p.Thr1119=)
c.3303C>A (p.Thr1101=)
c.*71C>A (n.*71C>A)
c.3279C>A (p.Thr1093=)
c.843C>A
c.2904C>A (p.Thr968=)
n.1819C>A
n.921C>A
c.5037C>A (p.Thr1679=)
c.5079C>A (p.Thr1693=)
c.5058C>A (p.Thr1686=)
c.5052C>A (p.Thr1684=)
c.5031C>A (p.Thr1677=)
c.3942C>A (p.Thr1314=)
c.5040C>A (p.Thr1680=)
n.922C>A
 gnomAD v4
11g.70473353G>ACA381676472SHANK2c.3299C>T (p.Thr1100Ile)
c.844C>T (n.844C>T)
c.5066C>T (p.Thr1689Ile)
c.2575C>T
c.3929C>T (p.Thr1310Ile)
c.3356C>T (p.Thr1119Ile)
c.3302C>T (p.Thr1101Ile)
c.*70C>T (n.*70C>T)
c.3278C>T (p.Thr1093Ile)
c.842C>T
c.2903C>T (p.Thr968Ile)
n.1818C>T
n.920C>T
c.5036C>T (p.Thr1679Ile)
c.5078C>T (p.Thr1693Ile)
c.5057C>T (p.Thr1686Ile)
c.5051C>T (p.Thr1684Ile)
c.5030C>T (p.Thr1677Ile)
c.3941C>T (p.Thr1314Ile)
c.5039C>T (p.Thr1680Ile)
n.921C>T
 dbSNP gnomAD v3 gnomAD v4
11g.70473353G>CCA381676474SHANK2c.3299C>G (p.Thr1100Ser)
c.844C>G (n.844C>G)
c.5066C>G (p.Thr1689Ser)
c.2575C>G
c.3929C>G (p.Thr1310Ser)
c.3356C>G (p.Thr1119Ser)
c.3302C>G (p.Thr1101Ser)
c.*70C>G (n.*70C>G)
c.3278C>G (p.Thr1093Ser)
c.842C>G
c.2903C>G (p.Thr968Ser)
n.1818C>G
n.920C>G
c.5036C>G (p.Thr1679Ser)
c.5078C>G (p.Thr1693Ser)
c.5057C>G (p.Thr1686Ser)
c.5051C>G (p.Thr1684Ser)
c.5030C>G (p.Thr1677Ser)
c.3941C>G (p.Thr1314Ser)
c.5039C>G (p.Thr1680Ser)
n.921C>G
11g.70473353G=CA1981068018SHANK2c.3299C= (p.Thr1100=)
c.844C= (n.844C=)
c.5066C= (p.Thr1689=)
c.2575C=
c.3929C= (p.Thr1310=)
c.3356C= (p.Thr1119=)
c.3302C= (p.Thr1101=)
c.*70C= (n.*70C=)
c.3278C= (p.Thr1093=)
c.842C=
c.2903C= (p.Thr968=)
n.1818C=
n.920C=
c.5036C= (p.Thr1679=)
c.5078C= (p.Thr1693=)
c.5057C= (p.Thr1686=)
c.5051C= (p.Thr1684=)
c.5030C= (p.Thr1677=)
c.3941C= (p.Thr1314=)
c.5039C= (p.Thr1680=)
n.921C=
11g.70473353G>TCA381676471SHANK2c.3299C>A (p.Thr1100Asn)
c.844C>A (n.844C>A)
c.5066C>A (p.Thr1689Asn)
c.2575C>A
c.3929C>A (p.Thr1310Asn)
c.3356C>A (p.Thr1119Asn)
c.3302C>A (p.Thr1101Asn)
c.*70C>A (n.*70C>A)
c.3278C>A (p.Thr1093Asn)
c.842C>A
c.2903C>A (p.Thr968Asn)
n.1818C>A
n.920C>A
c.5036C>A (p.Thr1679Asn)
c.5078C>A (p.Thr1693Asn)
c.5057C>A (p.Thr1686Asn)
c.5051C>A (p.Thr1684Asn)
c.5030C>A (p.Thr1677Asn)
c.3941C>A (p.Thr1314Asn)
c.5039C>A (p.Thr1680Asn)
n.921C>A
11g.70473354T>ACA381676477SHANK2c.3298A>T (p.Thr1100Ser)
c.843A>T (n.843A>T)
c.5065A>T (p.Thr1689Ser)
c.2574A>T
c.3928A>T (p.Thr1310Ser)
c.3355A>T (p.Thr1119Ser)
c.3301A>T (p.Thr1101Ser)
c.*69A>T (n.*69A>T)
c.3277A>T (p.Thr1093Ser)
c.841A>T
c.2902A>T (p.Thr968Ser)
n.1817A>T
n.919A>T
c.5035A>T (p.Thr1679Ser)
c.5077A>T (p.Thr1693Ser)
c.5056A>T (p.Thr1686Ser)
c.5050A>T (p.Thr1684Ser)
c.5029A>T (p.Thr1677Ser)
c.3940A>T (p.Thr1314Ser)
c.5038A>T (p.Thr1680Ser)
n.920A>T
11g.70473354T>CCA381676478SHANK2c.3298A>G (p.Thr1100Ala)
c.843A>G (n.843A>G)
c.5065A>G (p.Thr1689Ala)
c.2574A>G
c.3928A>G (p.Thr1310Ala)
c.3355A>G (p.Thr1119Ala)
c.3301A>G (p.Thr1101Ala)
c.*69A>G (n.*69A>G)
c.3277A>G (p.Thr1093Ala)
c.841A>G
c.2902A>G (p.Thr968Ala)
n.1817A>G
n.919A>G
c.5035A>G (p.Thr1679Ala)
c.5077A>G (p.Thr1693Ala)
c.5056A>G (p.Thr1686Ala)
c.5050A>G (p.Thr1684Ala)
c.5029A>G (p.Thr1677Ala)
c.3940A>G (p.Thr1314Ala)
c.5038A>G (p.Thr1680Ala)
n.920A>G
11g.70473354T>GCA381676479SHANK2c.3298A>C (p.Thr1100Pro)
c.843A>C (n.843A>C)
c.5065A>C (p.Thr1689Pro)
c.2574A>C
c.3928A>C (p.Thr1310Pro)
c.3355A>C (p.Thr1119Pro)
c.3301A>C (p.Thr1101Pro)
c.*69A>C (n.*69A>C)
c.3277A>C (p.Thr1093Pro)
c.841A>C
c.2902A>C (p.Thr968Pro)
n.1817A>C
n.919A>C
c.5035A>C (p.Thr1679Pro)
c.5077A>C (p.Thr1693Pro)
c.5056A>C (p.Thr1686Pro)
c.5050A>C (p.Thr1684Pro)
c.5029A>C (p.Thr1677Pro)
c.3940A>C (p.Thr1314Pro)
c.5038A>C (p.Thr1680Pro)
n.920A>C
11g.70473355G>ACA475470771SHANK2c.3297C>T (p.Ile1099=)
c.842C>T (n.842C>T)
c.5064C>T (p.Ile1688=)
c.2573C>T
c.3927C>T (p.Ile1309=)
c.3354C>T (p.Ile1118=)
c.3300C>T (p.Ile1100=)
c.*68C>T (n.*68C>T)
c.3276C>T (p.Ile1092=)
c.840C>T
c.2901C>T (p.Ile967=)
n.1816C>T
n.918C>T
c.5034C>T (p.Ile1678=)
c.5076C>T (p.Ile1692=)
c.5055C>T (p.Ile1685=)
c.5049C>T (p.Ile1683=)
c.5028C>T (p.Ile1676=)
c.3939C>T (p.Ile1313=)
c.5037C>T (p.Ile1679=)
n.919C>T
 dbSNP
11g.70473355G>CCA381676481SHANK2c.3297C>G (p.Ile1099Met)
c.842C>G (n.842C>G)
c.5064C>G (p.Ile1688Met)
c.2573C>G
c.3927C>G (p.Ile1309Met)
c.3354C>G (p.Ile1118Met)
c.3300C>G (p.Ile1100Met)
c.*68C>G (n.*68C>G)
c.3276C>G (p.Ile1092Met)
c.840C>G
c.2901C>G (p.Ile967Met)
n.1816C>G
n.918C>G
c.5034C>G (p.Ile1678Met)
c.5076C>G (p.Ile1692Met)
c.5055C>G (p.Ile1685Met)
c.5049C>G (p.Ile1683Met)
c.5028C>G (p.Ile1676Met)
c.3939C>G (p.Ile1313Met)
c.5037C>G (p.Ile1679Met)
n.919C>G
11g.70473355G=CA1981068019SHANK2c.3297C= (p.Ile1099=)
c.842C= (n.842C=)
c.5064C= (p.Ile1688=)
c.2573C=
c.3927C= (p.Ile1309=)
c.3354C= (p.Ile1118=)
c.3300C= (p.Ile1100=)
c.*68C= (n.*68C=)
c.3276C= (p.Ile1092=)
c.840C=
c.2901C= (p.Ile967=)
n.1816C=
n.918C=
c.5034C= (p.Ile1678=)
c.5076C= (p.Ile1692=)
c.5055C= (p.Ile1685=)
c.5049C= (p.Ile1683=)
c.5028C= (p.Ile1676=)
c.3939C= (p.Ile1313=)
c.5037C= (p.Ile1679=)
n.919C=
11g.70473355G>TCA475470772SHANK2c.3297C>A (p.Ile1099=)
c.842C>A (n.842C>A)
c.5064C>A (p.Ile1688=)
c.2573C>A
c.3927C>A (p.Ile1309=)
c.3354C>A (p.Ile1118=)
c.3300C>A (p.Ile1100=)
c.*68C>A (n.*68C>A)
c.3276C>A (p.Ile1092=)
c.840C>A
c.2901C>A (p.Ile967=)
n.1816C>A
n.918C>A
c.5034C>A (p.Ile1678=)
c.5076C>A (p.Ile1692=)
c.5055C>A (p.Ile1685=)
c.5049C>A (p.Ile1683=)
c.5028C>A (p.Ile1676=)
c.3939C>A (p.Ile1313=)
c.5037C>A (p.Ile1679=)
n.919C>A
 gnomAD v4
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=

Number of alleles fetched