Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.70473187T>ACA475471202SHANK2c.3465A>T (p.Pro1155=)
c.1010A>T (n.1010A>T)
c.5232A>T (p.Pro1744=)
c.2741A>T
c.4095A>T (p.Pro1365=)
c.3522A>T (p.Pro1174=)
c.3468A>T (p.Pro1156=)
c.*236A>T (n.*236A>T)
c.3444A>T (p.Pro1148=)
c.1008A>T
c.3069A>T (p.Pro1023=)
n.1984A>T
n.1086A>T
c.5202A>T (p.Pro1734=)
c.5244A>T (p.Pro1748=)
c.5223A>T (p.Pro1741=)
c.5217A>T (p.Pro1739=)
c.5196A>T (p.Pro1732=)
c.4107A>T (p.Pro1369=)
c.5205A>T (p.Pro1735=)
n.1087A>T
11g.70473187T>CCA475471201SHANK2c.3465A>G (p.Pro1155=)
c.1010A>G (n.1010A>G)
c.5232A>G (p.Pro1744=)
c.2741A>G
c.4095A>G (p.Pro1365=)
c.3522A>G (p.Pro1174=)
c.3468A>G (p.Pro1156=)
c.*236A>G (n.*236A>G)
c.3444A>G (p.Pro1148=)
c.1008A>G
c.3069A>G (p.Pro1023=)
n.1984A>G
n.1086A>G
c.5202A>G (p.Pro1734=)
c.5244A>G (p.Pro1748=)
c.5223A>G (p.Pro1741=)
c.5217A>G (p.Pro1739=)
c.5196A>G (p.Pro1732=)
c.4107A>G (p.Pro1369=)
c.5205A>G (p.Pro1735=)
n.1087A>G
11g.70473187T>GCA475471199SHANK2c.3465A>C (p.Pro1155=)
c.1010A>C (n.1010A>C)
c.5232A>C (p.Pro1744=)
c.2741A>C
c.4095A>C (p.Pro1365=)
c.3522A>C (p.Pro1174=)
c.3468A>C (p.Pro1156=)
c.*236A>C (n.*236A>C)
c.3444A>C (p.Pro1148=)
c.1008A>C
c.3069A>C (p.Pro1023=)
n.1984A>C
n.1086A>C
c.5202A>C (p.Pro1734=)
c.5244A>C (p.Pro1748=)
c.5223A>C (p.Pro1741=)
c.5217A>C (p.Pro1739=)
c.5196A>C (p.Pro1732=)
c.4107A>C (p.Pro1369=)
c.5205A>C (p.Pro1735=)
n.1087A>C
11g.70473187_70473188delinsAACA645583696SHANK2c.3464_3465delinsTT (p.Pro1155Leu)
c.1009_1010delinsTT (n.1009_1010delinsTT)
c.5231_5232delinsTT (p.Pro1744Leu)
c.2740_2741delinsTT
c.4094_4095delinsTT (p.Pro1365Leu)
c.3521_3522delinsTT (p.Pro1174Leu)
c.3467_3468delinsTT (p.Pro1156Leu)
c.*235_*236delinsTT (n.*235_*236delinsTT)
c.3443_3444delinsTT (p.Pro1148Leu)
c.1007_1008delinsTT
c.3068_3069delinsTT (p.Pro1023Leu)
n.1983_1984delinsTT
n.1085_1086delinsTT
c.5201_5202delinsTT (p.Pro1734Leu)
c.5243_5244delinsTT (p.Pro1748Leu)
c.5222_5223delinsTT (p.Pro1741Leu)
c.5216_5217delinsTT (p.Pro1739Leu)
c.5195_5196delinsTT (p.Pro1732Leu)
c.4106_4107delinsTT (p.Pro1369Leu)
c.5204_5205delinsTT (p.Pro1735Leu)
n.1086_1087delinsTT
 COSMIC COSMIC COSMIC
11g.70473188G>ACA381676037SHANK2c.3464C>T (p.Pro1155Leu)
c.1009C>T (n.1009C>T)
c.5231C>T (p.Pro1744Leu)
c.2740C>T
c.4094C>T (p.Pro1365Leu)
c.3521C>T (p.Pro1174Leu)
c.3467C>T (p.Pro1156Leu)
c.*235C>T (n.*235C>T)
c.3443C>T (p.Pro1148Leu)
c.1007C>T
c.3068C>T (p.Pro1023Leu)
n.1983C>T
n.1085C>T
c.5201C>T (p.Pro1734Leu)
c.5243C>T (p.Pro1748Leu)
c.5222C>T (p.Pro1741Leu)
c.5216C>T (p.Pro1739Leu)
c.5195C>T (p.Pro1732Leu)
c.4106C>T (p.Pro1369Leu)
c.5204C>T (p.Pro1735Leu)
n.1086C>T
 dbSNP
11g.70473188G>CCA381676041SHANK2c.3464C>G (p.Pro1155Arg)
c.1009C>G (n.1009C>G)
c.5231C>G (p.Pro1744Arg)
c.2740C>G
c.4094C>G (p.Pro1365Arg)
c.3521C>G (p.Pro1174Arg)
c.3467C>G (p.Pro1156Arg)
c.*235C>G (n.*235C>G)
c.3443C>G (p.Pro1148Arg)
c.1007C>G
c.3068C>G (p.Pro1023Arg)
n.1983C>G
n.1085C>G
c.5201C>G (p.Pro1734Arg)
c.5243C>G (p.Pro1748Arg)
c.5222C>G (p.Pro1741Arg)
c.5216C>G (p.Pro1739Arg)
c.5195C>G (p.Pro1732Arg)
c.4106C>G (p.Pro1369Arg)
c.5204C>G (p.Pro1735Arg)
n.1086C>G
11g.70473188G=CA1981067941SHANK2c.3464C= (p.Pro1155=)
c.1009C= (n.1009C=)
c.5231C= (p.Pro1744=)
c.2740C=
c.4094C= (p.Pro1365=)
c.3521C= (p.Pro1174=)
c.3467C= (p.Pro1156=)
c.*235C= (n.*235C=)
c.3443C= (p.Pro1148=)
c.1007C=
c.3068C= (p.Pro1023=)
n.1983C=
n.1085C=
c.5201C= (p.Pro1734=)
c.5243C= (p.Pro1748=)
c.5222C= (p.Pro1741=)
c.5216C= (p.Pro1739=)
c.5195C= (p.Pro1732=)
c.4106C= (p.Pro1369=)
c.5204C= (p.Pro1735=)
n.1086C=
11g.70473188G>TCA381676039SHANK2c.3464C>A (p.Pro1155Gln)
c.1009C>A (n.1009C>A)
c.5231C>A (p.Pro1744Gln)
c.2740C>A
c.4094C>A (p.Pro1365Gln)
c.3521C>A (p.Pro1174Gln)
c.3467C>A (p.Pro1156Gln)
c.*235C>A (n.*235C>A)
c.3443C>A (p.Pro1148Gln)
c.1007C>A
c.3068C>A (p.Pro1023Gln)
n.1983C>A
n.1085C>A
c.5201C>A (p.Pro1734Gln)
c.5243C>A (p.Pro1748Gln)
c.5222C>A (p.Pro1741Gln)
c.5216C>A (p.Pro1739Gln)
c.5195C>A (p.Pro1732Gln)
c.4106C>A (p.Pro1369Gln)
c.5204C>A (p.Pro1735Gln)
n.1086C>A
11g.70473189G>ACA381676043SHANK2c.3463C>T (p.Pro1155Ser)
c.1008C>T (n.1008C>T)
c.5230C>T (p.Pro1744Ser)
c.2739C>T
c.4093C>T (p.Pro1365Ser)
c.3520C>T (p.Pro1174Ser)
c.3466C>T (p.Pro1156Ser)
c.*234C>T (n.*234C>T)
c.3442C>T (p.Pro1148Ser)
c.1006C>T
c.3067C>T (p.Pro1023Ser)
n.1982C>T
n.1084C>T
c.5200C>T (p.Pro1734Ser)
c.5242C>T (p.Pro1748Ser)
c.5221C>T (p.Pro1741Ser)
c.5215C>T (p.Pro1739Ser)
c.5194C>T (p.Pro1732Ser)
c.4105C>T (p.Pro1369Ser)
c.5203C>T (p.Pro1735Ser)
n.1085C>T
11g.70473189G>CCA381676044SHANK2c.3463C>G (p.Pro1155Ala)
c.1008C>G (n.1008C>G)
c.5230C>G (p.Pro1744Ala)
c.2739C>G
c.4093C>G (p.Pro1365Ala)
c.3520C>G (p.Pro1174Ala)
c.3466C>G (p.Pro1156Ala)
c.*234C>G (n.*234C>G)
c.3442C>G (p.Pro1148Ala)
c.1006C>G
c.3067C>G (p.Pro1023Ala)
n.1982C>G
n.1084C>G
c.5200C>G (p.Pro1734Ala)
c.5242C>G (p.Pro1748Ala)
c.5221C>G (p.Pro1741Ala)
c.5215C>G (p.Pro1739Ala)
c.5194C>G (p.Pro1732Ala)
c.4105C>G (p.Pro1369Ala)
c.5203C>G (p.Pro1735Ala)
n.1085C>G
11g.70473189G>TCA381676045SHANK2c.3463C>A (p.Pro1155Thr)
c.1008C>A (n.1008C>A)
c.5230C>A (p.Pro1744Thr)
c.2739C>A
c.4093C>A (p.Pro1365Thr)
c.3520C>A (p.Pro1174Thr)
c.3466C>A (p.Pro1156Thr)
c.*234C>A (n.*234C>A)
c.3442C>A (p.Pro1148Thr)
c.1006C>A
c.3067C>A (p.Pro1023Thr)
n.1982C>A
n.1084C>A
c.5200C>A (p.Pro1734Thr)
c.5242C>A (p.Pro1748Thr)
c.5221C>A (p.Pro1741Thr)
c.5215C>A (p.Pro1739Thr)
c.5194C>A (p.Pro1732Thr)
c.4105C>A (p.Pro1369Thr)
c.5203C>A (p.Pro1735Thr)
n.1085C>A
11g.70473190A>CCA475471206SHANK2c.3462T>G (p.Leu1154=)
c.1007T>G (n.1007T>G)
c.5229T>G (p.Leu1743=)
c.2738T>G
c.4092T>G (p.Leu1364=)
c.3519T>G (p.Leu1173=)
c.3465T>G (p.Leu1155=)
c.*233T>G (n.*233T>G)
c.3441T>G (p.Leu1147=)
c.1005T>G
c.3066T>G (p.Leu1022=)
n.1981T>G
n.1083T>G
c.5199T>G (p.Leu1733=)
c.5241T>G (p.Leu1747=)
c.5220T>G (p.Leu1740=)
c.5214T>G (p.Leu1738=)
c.5193T>G (p.Leu1731=)
c.4104T>G (p.Leu1368=)
c.5202T>G (p.Leu1734=)
n.1084T>G
11g.70473190A>GCA475471208SHANK2c.3462T>C (p.Leu1154=)
c.1007T>C (n.1007T>C)
c.5229T>C (p.Leu1743=)
c.2738T>C
c.4092T>C (p.Leu1364=)
c.3519T>C (p.Leu1173=)
c.3465T>C (p.Leu1155=)
c.*233T>C (n.*233T>C)
c.3441T>C (p.Leu1147=)
c.1005T>C
c.3066T>C (p.Leu1022=)
n.1981T>C
n.1083T>C
c.5199T>C (p.Leu1733=)
c.5241T>C (p.Leu1747=)
c.5220T>C (p.Leu1740=)
c.5214T>C (p.Leu1738=)
c.5193T>C (p.Leu1731=)
c.4104T>C (p.Leu1368=)
c.5202T>C (p.Leu1734=)
n.1084T>C
11g.70473190A>TCA475471207SHANK2c.3462T>A (p.Leu1154=)
c.1007T>A (n.1007T>A)
c.5229T>A (p.Leu1743=)
c.2738T>A
c.4092T>A (p.Leu1364=)
c.3519T>A (p.Leu1173=)
c.3465T>A (p.Leu1155=)
c.*233T>A (n.*233T>A)
c.3441T>A (p.Leu1147=)
c.1005T>A
c.3066T>A (p.Leu1022=)
n.1981T>A
n.1083T>A
c.5199T>A (p.Leu1733=)
c.5241T>A (p.Leu1747=)
c.5220T>A (p.Leu1740=)
c.5214T>A (p.Leu1738=)
c.5193T>A (p.Leu1731=)
c.4104T>A (p.Leu1368=)
c.5202T>A (p.Leu1734=)
n.1084T>A
11g.70473191A>CCA381676046SHANK2c.3461T>G (p.Leu1154Arg)
c.1006T>G (n.1006T>G)
c.5228T>G (p.Leu1743Arg)
c.2737T>G
c.4091T>G (p.Leu1364Arg)
c.3518T>G (p.Leu1173Arg)
c.3464T>G (p.Leu1155Arg)
c.*232T>G (n.*232T>G)
c.3440T>G (p.Leu1147Arg)
c.1004T>G
c.3065T>G (p.Leu1022Arg)
n.1980T>G
n.1082T>G
c.5198T>G (p.Leu1733Arg)
c.5240T>G (p.Leu1747Arg)
c.5219T>G (p.Leu1740Arg)
c.5213T>G (p.Leu1738Arg)
c.5192T>G (p.Leu1731Arg)
c.4103T>G (p.Leu1368Arg)
c.5201T>G (p.Leu1734Arg)
n.1083T>G
11g.70473191A>GCA381676047SHANK2c.3461T>C (p.Leu1154Pro)
c.1006T>C (n.1006T>C)
c.5228T>C (p.Leu1743Pro)
c.2737T>C
c.4091T>C (p.Leu1364Pro)
c.3518T>C (p.Leu1173Pro)
c.3464T>C (p.Leu1155Pro)
c.*232T>C (n.*232T>C)
c.3440T>C (p.Leu1147Pro)
c.1004T>C
c.3065T>C (p.Leu1022Pro)
n.1980T>C
n.1082T>C
c.5198T>C (p.Leu1733Pro)
c.5240T>C (p.Leu1747Pro)
c.5219T>C (p.Leu1740Pro)
c.5213T>C (p.Leu1738Pro)
c.5192T>C (p.Leu1731Pro)
c.4103T>C (p.Leu1368Pro)
c.5201T>C (p.Leu1734Pro)
n.1083T>C
11g.70473191A>TCA381676048SHANK2c.3461T>A (p.Leu1154His)
c.1006T>A (n.1006T>A)
c.5228T>A (p.Leu1743His)
c.2737T>A
c.4091T>A (p.Leu1364His)
c.3518T>A (p.Leu1173His)
c.3464T>A (p.Leu1155His)
c.*232T>A (n.*232T>A)
c.3440T>A (p.Leu1147His)
c.1004T>A
c.3065T>A (p.Leu1022His)
n.1980T>A
n.1082T>A
c.5198T>A (p.Leu1733His)
c.5240T>A (p.Leu1747His)
c.5219T>A (p.Leu1740His)
c.5213T>A (p.Leu1738His)
c.5192T>A (p.Leu1731His)
c.4103T>A (p.Leu1368His)
c.5201T>A (p.Leu1734His)
n.1083T>A
11g.70473192G>ACA381676055SHANK2c.3460C>T (p.Leu1154Phe)
c.1005C>T (n.1005C>T)
c.5227C>T (p.Leu1743Phe)
c.2736C>T
c.4090C>T (p.Leu1364Phe)
c.3517C>T (p.Leu1173Phe)
c.3463C>T (p.Leu1155Phe)
c.*231C>T (n.*231C>T)
c.3439C>T (p.Leu1147Phe)
c.1003C>T
c.3064C>T (p.Leu1022Phe)
n.1979C>T
n.1081C>T
c.5197C>T (p.Leu1733Phe)
c.5239C>T (p.Leu1747Phe)
c.5218C>T (p.Leu1740Phe)
c.5212C>T (p.Leu1738Phe)
c.5191C>T (p.Leu1731Phe)
c.4102C>T (p.Leu1368Phe)
c.5200C>T (p.Leu1734Phe)
n.1082C>T
11g.70473192G>CCA381676056SHANK2c.3460C>G (p.Leu1154Val)
c.1005C>G (n.1005C>G)
c.5227C>G (p.Leu1743Val)
c.2736C>G
c.4090C>G (p.Leu1364Val)
c.3517C>G (p.Leu1173Val)
c.3463C>G (p.Leu1155Val)
c.*231C>G (n.*231C>G)
c.3439C>G (p.Leu1147Val)
c.1003C>G
c.3064C>G (p.Leu1022Val)
n.1979C>G
n.1081C>G
c.5197C>G (p.Leu1733Val)
c.5239C>G (p.Leu1747Val)
c.5218C>G (p.Leu1740Val)
c.5212C>G (p.Leu1738Val)
c.5191C>G (p.Leu1731Val)
c.4102C>G (p.Leu1368Val)
c.5200C>G (p.Leu1734Val)
n.1082C>G
11g.70473192G>TCA381676058SHANK2c.3460C>A (p.Leu1154Ile)
c.1005C>A (n.1005C>A)
c.5227C>A (p.Leu1743Ile)
c.2736C>A
c.4090C>A (p.Leu1364Ile)
c.3517C>A (p.Leu1173Ile)
c.3463C>A (p.Leu1155Ile)
c.*231C>A (n.*231C>A)
c.3439C>A (p.Leu1147Ile)
c.1003C>A
c.3064C>A (p.Leu1022Ile)
n.1979C>A
n.1081C>A
c.5197C>A (p.Leu1733Ile)
c.5239C>A (p.Leu1747Ile)
c.5218C>A (p.Leu1740Ile)
c.5212C>A (p.Leu1738Ile)
c.5191C>A (p.Leu1731Ile)
c.4102C>A (p.Leu1368Ile)
c.5200C>A (p.Leu1734Ile)
n.1082C>A
11g.70473193G>ACA475471212SHANK2c.3459C>T (p.Ser1153=)
c.1004C>T (n.1004C>T)
c.5226C>T (p.Ser1742=)
c.2735C>T
c.4089C>T (p.Ser1363=)
c.3516C>T (p.Ser1172=)
c.3462C>T (p.Ser1154=)
c.*230C>T (n.*230C>T)
c.3438C>T (p.Ser1146=)
c.1002C>T
c.3063C>T (p.Ser1021=)
n.1978C>T
n.1080C>T
c.5196C>T (p.Ser1732=)
c.5238C>T (p.Ser1746=)
c.5217C>T (p.Ser1739=)
c.5211C>T (p.Ser1737=)
c.5190C>T (p.Ser1730=)
c.4101C>T (p.Ser1367=)
c.5199C>T (p.Ser1733=)
n.1081C>T
 gnomAD v4
11g.70473193G>CCA381676062SHANK2c.3459C>G (p.Ser1153Arg)
c.1004C>G (n.1004C>G)
c.5226C>G (p.Ser1742Arg)
c.2735C>G
c.4089C>G (p.Ser1363Arg)
c.3516C>G (p.Ser1172Arg)
c.3462C>G (p.Ser1154Arg)
c.*230C>G (n.*230C>G)
c.3438C>G (p.Ser1146Arg)
c.1002C>G
c.3063C>G (p.Ser1021Arg)
n.1978C>G
n.1080C>G
c.5196C>G (p.Ser1732Arg)
c.5238C>G (p.Ser1746Arg)
c.5217C>G (p.Ser1739Arg)
c.5211C>G (p.Ser1737Arg)
c.5190C>G (p.Ser1730Arg)
c.4101C>G (p.Ser1367Arg)
c.5199C>G (p.Ser1733Arg)
n.1081C>G
11g.70473193G>TCA381676063SHANK2c.3459C>A (p.Ser1153Arg)
c.1004C>A (n.1004C>A)
c.5226C>A (p.Ser1742Arg)
c.2735C>A
c.4089C>A (p.Ser1363Arg)
c.3516C>A (p.Ser1172Arg)
c.3462C>A (p.Ser1154Arg)
c.*230C>A (n.*230C>A)
c.3438C>A (p.Ser1146Arg)
c.1002C>A
c.3063C>A (p.Ser1021Arg)
n.1978C>A
n.1080C>A
c.5196C>A (p.Ser1732Arg)
c.5238C>A (p.Ser1746Arg)
c.5217C>A (p.Ser1739Arg)
c.5211C>A (p.Ser1737Arg)
c.5190C>A (p.Ser1730Arg)
c.4101C>A (p.Ser1367Arg)
c.5199C>A (p.Ser1733Arg)
n.1081C>A
11g.70473194C>ACA381676069SHANK2c.3458G>T (p.Ser1153Ile)
c.1003G>T (n.1003G>T)
c.5225G>T (p.Ser1742Ile)
c.2734G>T
c.4088G>T (p.Ser1363Ile)
c.3515G>T (p.Ser1172Ile)
c.3461G>T (p.Ser1154Ile)
c.*229G>T (n.*229G>T)
c.3437G>T (p.Ser1146Ile)
c.1001G>T
c.3062G>T (p.Ser1021Ile)
n.1977G>T
n.1079G>T
c.5195G>T (p.Ser1732Ile)
c.5237G>T (p.Ser1746Ile)
c.5216G>T (p.Ser1739Ile)
c.5210G>T (p.Ser1737Ile)
c.5189G>T (p.Ser1730Ile)
c.4100G>T (p.Ser1367Ile)
c.5198G>T (p.Ser1733Ile)
n.1080G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.70473194C=CA1981067942SHANK2c.3458G= (p.Ser1153=)
c.1003G= (n.1003G=)
c.5225G= (p.Ser1742=)
c.2734G=
c.4088G= (p.Ser1363=)
c.3515G= (p.Ser1172=)
c.3461G= (p.Ser1154=)
c.*229G= (n.*229G=)
c.3437G= (p.Ser1146=)
c.1001G=
c.3062G= (p.Ser1021=)
n.1977G=
n.1079G=
c.5195G= (p.Ser1732=)
c.5237G= (p.Ser1746=)
c.5216G= (p.Ser1739=)
c.5210G= (p.Ser1737=)
c.5189G= (p.Ser1730=)
c.4100G= (p.Ser1367=)
c.5198G= (p.Ser1733=)
n.1080G=
11g.70473194C>GCA381676072SHANK2c.3458G>C (p.Ser1153Thr)
c.1003G>C (n.1003G>C)
c.5225G>C (p.Ser1742Thr)
c.2734G>C
c.4088G>C (p.Ser1363Thr)
c.3515G>C (p.Ser1172Thr)
c.3461G>C (p.Ser1154Thr)
c.*229G>C (n.*229G>C)
c.3437G>C (p.Ser1146Thr)
c.1001G>C
c.3062G>C (p.Ser1021Thr)
n.1977G>C
n.1079G>C
c.5195G>C (p.Ser1732Thr)
c.5237G>C (p.Ser1746Thr)
c.5216G>C (p.Ser1739Thr)
c.5210G>C (p.Ser1737Thr)
c.5189G>C (p.Ser1730Thr)
c.4100G>C (p.Ser1367Thr)
c.5198G>C (p.Ser1733Thr)
n.1080G>C
11g.70473194C>TCA381676066SHANK2c.3458G>A (p.Ser1153Asn)
c.1003G>A (n.1003G>A)
c.5225G>A (p.Ser1742Asn)
c.2734G>A
c.4088G>A (p.Ser1363Asn)
c.3515G>A (p.Ser1172Asn)
c.3461G>A (p.Ser1154Asn)
c.*229G>A (n.*229G>A)
c.3437G>A (p.Ser1146Asn)
c.1001G>A
c.3062G>A (p.Ser1021Asn)
n.1977G>A
n.1079G>A
c.5195G>A (p.Ser1732Asn)
c.5237G>A (p.Ser1746Asn)
c.5216G>A (p.Ser1739Asn)
c.5210G>A (p.Ser1737Asn)
c.5189G>A (p.Ser1730Asn)
c.4100G>A (p.Ser1367Asn)
c.5198G>A (p.Ser1733Asn)
n.1080G>A
11g.70473195T>ACA381676079SHANK2c.3457A>T (p.Ser1153Cys)
c.1002A>T (n.1002A>T)
c.5224A>T (p.Ser1742Cys)
c.2733A>T
c.4087A>T (p.Ser1363Cys)
c.3514A>T (p.Ser1172Cys)
c.3460A>T (p.Ser1154Cys)
c.*228A>T (n.*228A>T)
c.3436A>T (p.Ser1146Cys)
c.1000A>T
c.3061A>T (p.Ser1021Cys)
n.1976A>T
n.1078A>T
c.5194A>T (p.Ser1732Cys)
c.5236A>T (p.Ser1746Cys)
c.5215A>T (p.Ser1739Cys)
c.5209A>T (p.Ser1737Cys)
c.5188A>T (p.Ser1730Cys)
c.4099A>T (p.Ser1367Cys)
c.5197A>T (p.Ser1733Cys)
n.1079A>T
11g.70473195T>CCA381676075SHANK2c.3457A>G (p.Ser1153Gly)
c.1002A>G (n.1002A>G)
c.5224A>G (p.Ser1742Gly)
c.2733A>G
c.4087A>G (p.Ser1363Gly)
c.3514A>G (p.Ser1172Gly)
c.3460A>G (p.Ser1154Gly)
c.*228A>G (n.*228A>G)
c.3436A>G (p.Ser1146Gly)
c.1000A>G
c.3061A>G (p.Ser1021Gly)
n.1976A>G
n.1078A>G
c.5194A>G (p.Ser1732Gly)
c.5236A>G (p.Ser1746Gly)
c.5215A>G (p.Ser1739Gly)
c.5209A>G (p.Ser1737Gly)
c.5188A>G (p.Ser1730Gly)
c.4099A>G (p.Ser1367Gly)
c.5197A>G (p.Ser1733Gly)
n.1079A>G
11g.70473195T>GCA381676081SHANK2c.3457A>C (p.Ser1153Arg)
c.1002A>C (n.1002A>C)
c.5224A>C (p.Ser1742Arg)
c.2733A>C
c.4087A>C (p.Ser1363Arg)
c.3514A>C (p.Ser1172Arg)
c.3460A>C (p.Ser1154Arg)
c.*228A>C (n.*228A>C)
c.3436A>C (p.Ser1146Arg)
c.1000A>C
c.3061A>C (p.Ser1021Arg)
n.1976A>C
n.1078A>C
c.5194A>C (p.Ser1732Arg)
c.5236A>C (p.Ser1746Arg)
c.5215A>C (p.Ser1739Arg)
c.5209A>C (p.Ser1737Arg)
c.5188A>C (p.Ser1730Arg)
c.4099A>C (p.Ser1367Arg)
c.5197A>C (p.Ser1733Arg)
n.1079A>C
11g.70473196A=CA1981067943SHANK2c.3456T= (p.Phe1152=)
c.1001T= (n.1001T=)
c.5223T= (p.Phe1741=)
c.2732T=
c.4086T= (p.Phe1362=)
c.3513T= (p.Phe1171=)
c.3459T= (p.Phe1153=)
c.*227T= (n.*227T=)
c.3435T= (p.Phe1145=)
c.999T=
c.3060T= (p.Phe1020=)
n.1975T=
n.1077T=
c.5193T= (p.Phe1731=)
c.5235T= (p.Phe1745=)
c.5214T= (p.Phe1738=)
c.5208T= (p.Phe1736=)
c.5187T= (p.Phe1729=)
c.4098T= (p.Phe1366=)
c.5196T= (p.Phe1732=)
n.1078T=
11g.70473196A>CCA381676082SHANK2c.3456T>G (p.Phe1152Leu)
c.1001T>G (n.1001T>G)
c.5223T>G (p.Phe1741Leu)
c.2732T>G
c.4086T>G (p.Phe1362Leu)
c.3513T>G (p.Phe1171Leu)
c.3459T>G (p.Phe1153Leu)
c.*227T>G (n.*227T>G)
c.3435T>G (p.Phe1145Leu)
c.999T>G
c.3060T>G (p.Phe1020Leu)
n.1975T>G
n.1077T>G
c.5193T>G (p.Phe1731Leu)
c.5235T>G (p.Phe1745Leu)
c.5214T>G (p.Phe1738Leu)
c.5208T>G (p.Phe1736Leu)
c.5187T>G (p.Phe1729Leu)
c.4098T>G (p.Phe1366Leu)
c.5196T>G (p.Phe1732Leu)
n.1078T>G
11g.70473196A>GCA475470589SHANK2c.3456T>C (p.Phe1152=)
c.1001T>C (n.1001T>C)
c.5223T>C (p.Phe1741=)
c.2732T>C
c.4086T>C (p.Phe1362=)
c.3513T>C (p.Phe1171=)
c.3459T>C (p.Phe1153=)
c.*227T>C (n.*227T>C)
c.3435T>C (p.Phe1145=)
c.999T>C
c.3060T>C (p.Phe1020=)
n.1975T>C
n.1077T>C
c.5193T>C (p.Phe1731=)
c.5235T>C (p.Phe1745=)
c.5214T>C (p.Phe1738=)
c.5208T>C (p.Phe1736=)
c.5187T>C (p.Phe1729=)
c.4098T>C (p.Phe1366=)
c.5196T>C (p.Phe1732=)
n.1078T>C
 dbSNP
11g.70473196A>TCA381676084SHANK2c.3456T>A (p.Phe1152Leu)
c.1001T>A (n.1001T>A)
c.5223T>A (p.Phe1741Leu)
c.2732T>A
c.4086T>A (p.Phe1362Leu)
c.3513T>A (p.Phe1171Leu)
c.3459T>A (p.Phe1153Leu)
c.*227T>A (n.*227T>A)
c.3435T>A (p.Phe1145Leu)
c.999T>A
c.3060T>A (p.Phe1020Leu)
n.1975T>A
n.1077T>A
c.5193T>A (p.Phe1731Leu)
c.5235T>A (p.Phe1745Leu)
c.5214T>A (p.Phe1738Leu)
c.5208T>A (p.Phe1736Leu)
c.5187T>A (p.Phe1729Leu)
c.4098T>A (p.Phe1366Leu)
c.5196T>A (p.Phe1732Leu)
n.1078T>A
11g.70473197A>CCA381676086SHANK2c.3455T>G (p.Phe1152Cys)
c.1000T>G (n.1000T>G)
c.5222T>G (p.Phe1741Cys)
c.2731T>G
c.4085T>G (p.Phe1362Cys)
c.3512T>G (p.Phe1171Cys)
c.3458T>G (p.Phe1153Cys)
c.*226T>G (n.*226T>G)
c.3434T>G (p.Phe1145Cys)
c.998T>G
c.3059T>G (p.Phe1020Cys)
n.1974T>G
n.1076T>G
c.5192T>G (p.Phe1731Cys)
c.5234T>G (p.Phe1745Cys)
c.5213T>G (p.Phe1738Cys)
c.5207T>G (p.Phe1736Cys)
c.5186T>G (p.Phe1729Cys)
c.4097T>G (p.Phe1366Cys)
c.5195T>G (p.Phe1732Cys)
n.1077T>G
11g.70473197A>GCA381676087SHANK2c.3455T>C (p.Phe1152Ser)
c.1000T>C (n.1000T>C)
c.5222T>C (p.Phe1741Ser)
c.2731T>C
c.4085T>C (p.Phe1362Ser)
c.3512T>C (p.Phe1171Ser)
c.3458T>C (p.Phe1153Ser)
c.*226T>C (n.*226T>C)
c.3434T>C (p.Phe1145Ser)
c.998T>C
c.3059T>C (p.Phe1020Ser)
n.1974T>C
n.1076T>C
c.5192T>C (p.Phe1731Ser)
c.5234T>C (p.Phe1745Ser)
c.5213T>C (p.Phe1738Ser)
c.5207T>C (p.Phe1736Ser)
c.5186T>C (p.Phe1729Ser)
c.4097T>C (p.Phe1366Ser)
c.5195T>C (p.Phe1732Ser)
n.1077T>C
11g.70473197A>TCA381676090SHANK2c.3455T>A (p.Phe1152Tyr)
c.1000T>A (n.1000T>A)
c.5222T>A (p.Phe1741Tyr)
c.2731T>A
c.4085T>A (p.Phe1362Tyr)
c.3512T>A (p.Phe1171Tyr)
c.3458T>A (p.Phe1153Tyr)
c.*226T>A (n.*226T>A)
c.3434T>A (p.Phe1145Tyr)
c.998T>A
c.3059T>A (p.Phe1020Tyr)
n.1974T>A
n.1076T>A
c.5192T>A (p.Phe1731Tyr)
c.5234T>A (p.Phe1745Tyr)
c.5213T>A (p.Phe1738Tyr)
c.5207T>A (p.Phe1736Tyr)
c.5186T>A (p.Phe1729Tyr)
c.4097T>A (p.Phe1366Tyr)
c.5195T>A (p.Phe1732Tyr)
n.1077T>A
11g.70473198A>CCA381676093SHANK2c.3454T>G (p.Phe1152Val)
c.999T>G (n.999T>G)
c.5221T>G (p.Phe1741Val)
c.2730T>G
c.4084T>G (p.Phe1362Val)
c.3511T>G (p.Phe1171Val)
c.3457T>G (p.Phe1153Val)
c.*225T>G (n.*225T>G)
c.3433T>G (p.Phe1145Val)
c.997T>G
c.3058T>G (p.Phe1020Val)
n.1973T>G
n.1075T>G
c.5191T>G (p.Phe1731Val)
c.5233T>G (p.Phe1745Val)
c.5212T>G (p.Phe1738Val)
c.5206T>G (p.Phe1736Val)
c.5185T>G (p.Phe1729Val)
c.4096T>G (p.Phe1366Val)
c.5194T>G (p.Phe1732Val)
n.1076T>G
11g.70473198A>GCA381676096SHANK2c.3454T>C (p.Phe1152Leu)
c.999T>C (n.999T>C)
c.5221T>C (p.Phe1741Leu)
c.2730T>C
c.4084T>C (p.Phe1362Leu)
c.3511T>C (p.Phe1171Leu)
c.3457T>C (p.Phe1153Leu)
c.*225T>C (n.*225T>C)
c.3433T>C (p.Phe1145Leu)
c.997T>C
c.3058T>C (p.Phe1020Leu)
n.1973T>C
n.1075T>C
c.5191T>C (p.Phe1731Leu)
c.5233T>C (p.Phe1745Leu)
c.5212T>C (p.Phe1738Leu)
c.5206T>C (p.Phe1736Leu)
c.5185T>C (p.Phe1729Leu)
c.4096T>C (p.Phe1366Leu)
c.5194T>C (p.Phe1732Leu)
n.1076T>C
11g.70473198A>TCA381676098SHANK2c.3454T>A (p.Phe1152Ile)
c.999T>A (n.999T>A)
c.5221T>A (p.Phe1741Ile)
c.2730T>A
c.4084T>A (p.Phe1362Ile)
c.3511T>A (p.Phe1171Ile)
c.3457T>A (p.Phe1153Ile)
c.*225T>A (n.*225T>A)
c.3433T>A (p.Phe1145Ile)
c.997T>A
c.3058T>A (p.Phe1020Ile)
n.1973T>A
n.1075T>A
c.5191T>A (p.Phe1731Ile)
c.5233T>A (p.Phe1745Ile)
c.5212T>A (p.Phe1738Ile)
c.5206T>A (p.Phe1736Ile)
c.5185T>A (p.Phe1729Ile)
c.4096T>A (p.Phe1366Ile)
c.5194T>A (p.Phe1732Ile)
n.1076T>A
11g.70473199G>ACA475470592SHANK2c.3453C>T (p.Val1151=)
c.998C>T (n.998C>T)
c.5220C>T (p.Val1740=)
c.2729C>T
c.4083C>T (p.Val1361=)
c.3510C>T (p.Val1170=)
c.3456C>T (p.Val1152=)
c.*224C>T (n.*224C>T)
c.3432C>T (p.Val1144=)
c.996C>T
c.3057C>T (p.Val1019=)
n.1972C>T
n.1074C>T
c.5190C>T (p.Val1730=)
c.5232C>T (p.Val1744=)
c.5211C>T (p.Val1737=)
c.5205C>T (p.Val1735=)
c.5184C>T (p.Val1728=)
c.4095C>T (p.Val1365=)
c.5193C>T (p.Val1731=)
n.1075C>T
11g.70473199G>CCA475470594SHANK2c.3453C>G (p.Val1151=)
c.998C>G (n.998C>G)
c.5220C>G (p.Val1740=)
c.2729C>G
c.4083C>G (p.Val1361=)
c.3510C>G (p.Val1170=)
c.3456C>G (p.Val1152=)
c.*224C>G (n.*224C>G)
c.3432C>G (p.Val1144=)
c.996C>G
c.3057C>G (p.Val1019=)
n.1972C>G
n.1074C>G
c.5190C>G (p.Val1730=)
c.5232C>G (p.Val1744=)
c.5211C>G (p.Val1737=)
c.5205C>G (p.Val1735=)
c.5184C>G (p.Val1728=)
c.4095C>G (p.Val1365=)
c.5193C>G (p.Val1731=)
n.1075C>G
11g.70473199G=CA1981067944SHANK2c.3453C= (p.Val1151=)
c.998C= (n.998C=)
c.5220C= (p.Val1740=)
c.2729C=
c.4083C= (p.Val1361=)
c.3510C= (p.Val1170=)
c.3456C= (p.Val1152=)
c.*224C= (n.*224C=)
c.3432C= (p.Val1144=)
c.996C=
c.3057C= (p.Val1019=)
n.1972C=
n.1074C=
c.5190C= (p.Val1730=)
c.5232C= (p.Val1744=)
c.5211C= (p.Val1737=)
c.5205C= (p.Val1735=)
c.5184C= (p.Val1728=)
c.4095C= (p.Val1365=)
c.5193C= (p.Val1731=)
n.1075C=
11g.70473199G>TCA475470596SHANK2c.3453C>A (p.Val1151=)
c.998C>A (n.998C>A)
c.5220C>A (p.Val1740=)
c.2729C>A
c.4083C>A (p.Val1361=)
c.3510C>A (p.Val1170=)
c.3456C>A (p.Val1152=)
c.*224C>A (n.*224C>A)
c.3432C>A (p.Val1144=)
c.996C>A
c.3057C>A (p.Val1019=)
n.1972C>A
n.1074C>A
c.5190C>A (p.Val1730=)
c.5232C>A (p.Val1744=)
c.5211C>A (p.Val1737=)
c.5205C>A (p.Val1735=)
c.5184C>A (p.Val1728=)
c.4095C>A (p.Val1365=)
c.5193C>A (p.Val1731=)
n.1075C>A
 dbSNP
11g.70473200A>CCA381676101SHANK2c.3452T>G (p.Val1151Gly)
c.997T>G (n.997T>G)
c.5219T>G (p.Val1740Gly)
c.2728T>G
c.4082T>G (p.Val1361Gly)
c.3509T>G (p.Val1170Gly)
c.3455T>G (p.Val1152Gly)
c.*223T>G (n.*223T>G)
c.3431T>G (p.Val1144Gly)
c.995T>G
c.3056T>G (p.Val1019Gly)
n.1971T>G
n.1073T>G
c.5189T>G (p.Val1730Gly)
c.5231T>G (p.Val1744Gly)
c.5210T>G (p.Val1737Gly)
c.5204T>G (p.Val1735Gly)
c.5183T>G (p.Val1728Gly)
c.4094T>G (p.Val1365Gly)
c.5192T>G (p.Val1731Gly)
n.1074T>G
11g.70473200A>GCA381676103SHANK2c.3452T>C (p.Val1151Ala)
c.997T>C (n.997T>C)
c.5219T>C (p.Val1740Ala)
c.2728T>C
c.4082T>C (p.Val1361Ala)
c.3509T>C (p.Val1170Ala)
c.3455T>C (p.Val1152Ala)
c.*223T>C (n.*223T>C)
c.3431T>C (p.Val1144Ala)
c.995T>C
c.3056T>C (p.Val1019Ala)
n.1971T>C
n.1073T>C
c.5189T>C (p.Val1730Ala)
c.5231T>C (p.Val1744Ala)
c.5210T>C (p.Val1737Ala)
c.5204T>C (p.Val1735Ala)
c.5183T>C (p.Val1728Ala)
c.4094T>C (p.Val1365Ala)
c.5192T>C (p.Val1731Ala)
n.1074T>C
11g.70473200A>TCA381676104SHANK2c.3452T>A (p.Val1151Asp)
c.997T>A (n.997T>A)
c.5219T>A (p.Val1740Asp)
c.2728T>A
c.4082T>A (p.Val1361Asp)
c.3509T>A (p.Val1170Asp)
c.3455T>A (p.Val1152Asp)
c.*223T>A (n.*223T>A)
c.3431T>A (p.Val1144Asp)
c.995T>A
c.3056T>A (p.Val1019Asp)
n.1971T>A
n.1073T>A
c.5189T>A (p.Val1730Asp)
c.5231T>A (p.Val1744Asp)
c.5210T>A (p.Val1737Asp)
c.5204T>A (p.Val1735Asp)
c.5183T>A (p.Val1728Asp)
c.4094T>A (p.Val1365Asp)
c.5192T>A (p.Val1731Asp)
n.1074T>A
11g.70473201C>ACA381676106SHANK2c.3451G>T (p.Val1151Phe)
c.996G>T (n.996G>T)
c.5218G>T (p.Val1740Phe)
c.2727G>T
c.4081G>T (p.Val1361Phe)
c.3508G>T (p.Val1170Phe)
c.3454G>T (p.Val1152Phe)
c.*222G>T (n.*222G>T)
c.3430G>T (p.Val1144Phe)
c.994G>T
c.3055G>T (p.Val1019Phe)
n.1970G>T
n.1072G>T
c.5188G>T (p.Val1730Phe)
c.5230G>T (p.Val1744Phe)
c.5209G>T (p.Val1737Phe)
c.5203G>T (p.Val1735Phe)
c.5182G>T (p.Val1728Phe)
c.4093G>T (p.Val1365Phe)
c.5191G>T (p.Val1731Phe)
n.1073G>T
11g.70473201C=CA1981067945SHANK2c.3451G= (p.Val1151=)
c.996G= (n.996G=)
c.5218G= (p.Val1740=)
c.2727G=
c.4081G= (p.Val1361=)
c.3508G= (p.Val1170=)
c.3454G= (p.Val1152=)
c.*222G= (n.*222G=)
c.3430G= (p.Val1144=)
c.994G=
c.3055G= (p.Val1019=)
n.1970G=
n.1072G=
c.5188G= (p.Val1730=)
c.5230G= (p.Val1744=)
c.5209G= (p.Val1737=)
c.5203G= (p.Val1735=)
c.5182G= (p.Val1728=)
c.4093G= (p.Val1365=)
c.5191G= (p.Val1731=)
n.1073G=
11g.70473201C>GCA381676108SHANK2c.3451G>C (p.Val1151Leu)
c.996G>C (n.996G>C)
c.5218G>C (p.Val1740Leu)
c.2727G>C
c.4081G>C (p.Val1361Leu)
c.3508G>C (p.Val1170Leu)
c.3454G>C (p.Val1152Leu)
c.*222G>C (n.*222G>C)
c.3430G>C (p.Val1144Leu)
c.994G>C
c.3055G>C (p.Val1019Leu)
n.1970G>C
n.1072G>C
c.5188G>C (p.Val1730Leu)
c.5230G>C (p.Val1744Leu)
c.5209G>C (p.Val1737Leu)
c.5203G>C (p.Val1735Leu)
c.5182G>C (p.Val1728Leu)
c.4093G>C (p.Val1365Leu)
c.5191G>C (p.Val1731Leu)
n.1073G>C
11g.70473201C>TCA6160741SHANK2c.3451G>A (p.Val1151Ile)
c.996G>A (n.996G>A)
c.5218G>A (p.Val1740Ile)
c.2727G>A
c.4081G>A (p.Val1361Ile)
c.3508G>A (p.Val1170Ile)
c.3454G>A (p.Val1152Ile)
c.*222G>A (n.*222G>A)
c.3430G>A (p.Val1144Ile)
c.994G>A
c.3055G>A (p.Val1019Ile)
n.1970G>A
n.1072G>A
c.5188G>A (p.Val1730Ile)
c.5230G>A (p.Val1744Ile)
c.5209G>A (p.Val1737Ile)
c.5203G>A (p.Val1735Ile)
c.5182G>A (p.Val1728Ile)
c.4093G>A (p.Val1365Ile)
c.5191G>A (p.Val1731Ile)
n.1073G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473202A>CCA381676111SHANK2c.3450T>G (p.Asp1150Glu)
c.995T>G (n.995T>G)
c.5217T>G (p.Asp1739Glu)
c.2726T>G
c.4080T>G (p.Asp1360Glu)
c.3507T>G (p.Asp1169Glu)
c.3453T>G (p.Asp1151Glu)
c.*221T>G (n.*221T>G)
c.3429T>G (p.Asp1143Glu)
c.993T>G
c.3054T>G (p.Asp1018Glu)
n.1969T>G
n.1071T>G
c.5187T>G (p.Asp1729Glu)
c.5229T>G (p.Asp1743Glu)
c.5208T>G (p.Asp1736Glu)
c.5202T>G (p.Asp1734Glu)
c.5181T>G (p.Asp1727Glu)
c.4092T>G (p.Asp1364Glu)
c.5190T>G (p.Asp1730Glu)
n.1072T>G
11g.70473202A>GCA475470599SHANK2c.3450T>C (p.Asp1150=)
c.995T>C (n.995T>C)
c.5217T>C (p.Asp1739=)
c.2726T>C
c.4080T>C (p.Asp1360=)
c.3507T>C (p.Asp1169=)
c.3453T>C (p.Asp1151=)
c.*221T>C (n.*221T>C)
c.3429T>C (p.Asp1143=)
c.993T>C
c.3054T>C (p.Asp1018=)
n.1969T>C
n.1071T>C
c.5187T>C (p.Asp1729=)
c.5229T>C (p.Asp1743=)
c.5208T>C (p.Asp1736=)
c.5202T>C (p.Asp1734=)
c.5181T>C (p.Asp1727=)
c.4092T>C (p.Asp1364=)
c.5190T>C (p.Asp1730=)
n.1072T>C
11g.70473202A>TCA381676113SHANK2c.3450T>A (p.Asp1150Glu)
c.995T>A (n.995T>A)
c.5217T>A (p.Asp1739Glu)
c.2726T>A
c.4080T>A (p.Asp1360Glu)
c.3507T>A (p.Asp1169Glu)
c.3453T>A (p.Asp1151Glu)
c.*221T>A (n.*221T>A)
c.3429T>A (p.Asp1143Glu)
c.993T>A
c.3054T>A (p.Asp1018Glu)
n.1969T>A
n.1071T>A
c.5187T>A (p.Asp1729Glu)
c.5229T>A (p.Asp1743Glu)
c.5208T>A (p.Asp1736Glu)
c.5202T>A (p.Asp1734Glu)
c.5181T>A (p.Asp1727Glu)
c.4092T>A (p.Asp1364Glu)
c.5190T>A (p.Asp1730Glu)
n.1072T>A
11g.70473203T>ACA381676116SHANK2c.3449A>T (p.Asp1150Val)
c.994A>T (n.994A>T)
c.5216A>T (p.Asp1739Val)
c.2725A>T
c.4079A>T (p.Asp1360Val)
c.3506A>T (p.Asp1169Val)
c.3452A>T (p.Asp1151Val)
c.*220A>T (n.*220A>T)
c.3428A>T (p.Asp1143Val)
c.992A>T
c.3053A>T (p.Asp1018Val)
n.1968A>T
n.1070A>T
c.5186A>T (p.Asp1729Val)
c.5228A>T (p.Asp1743Val)
c.5207A>T (p.Asp1736Val)
c.5201A>T (p.Asp1734Val)
c.5180A>T (p.Asp1727Val)
c.4091A>T (p.Asp1364Val)
c.5189A>T (p.Asp1730Val)
n.1071A>T
11g.70473203T>CCA381676118SHANK2c.3449A>G (p.Asp1150Gly)
c.994A>G (n.994A>G)
c.5216A>G (p.Asp1739Gly)
c.2725A>G
c.4079A>G (p.Asp1360Gly)
c.3506A>G (p.Asp1169Gly)
c.3452A>G (p.Asp1151Gly)
c.*220A>G (n.*220A>G)
c.3428A>G (p.Asp1143Gly)
c.992A>G
c.3053A>G (p.Asp1018Gly)
n.1968A>G
n.1070A>G
c.5186A>G (p.Asp1729Gly)
c.5228A>G (p.Asp1743Gly)
c.5207A>G (p.Asp1736Gly)
c.5201A>G (p.Asp1734Gly)
c.5180A>G (p.Asp1727Gly)
c.4091A>G (p.Asp1364Gly)
c.5189A>G (p.Asp1730Gly)
n.1071A>G
11g.70473203T>GCA381676121SHANK2c.3449A>C (p.Asp1150Ala)
c.994A>C (n.994A>C)
c.5216A>C (p.Asp1739Ala)
c.2725A>C
c.4079A>C (p.Asp1360Ala)
c.3506A>C (p.Asp1169Ala)
c.3452A>C (p.Asp1151Ala)
c.*220A>C (n.*220A>C)
c.3428A>C (p.Asp1143Ala)
c.992A>C
c.3053A>C (p.Asp1018Ala)
n.1968A>C
n.1070A>C
c.5186A>C (p.Asp1729Ala)
c.5228A>C (p.Asp1743Ala)
c.5207A>C (p.Asp1736Ala)
c.5201A>C (p.Asp1734Ala)
c.5180A>C (p.Asp1727Ala)
c.4091A>C (p.Asp1364Ala)
c.5189A>C (p.Asp1730Ala)
n.1071A>C
11g.70473204C>ACA381676124SHANK2c.3448G>T (p.Asp1150Tyr)
c.993G>T (n.993G>T)
c.5215G>T (p.Asp1739Tyr)
c.2724G>T
c.4078G>T (p.Asp1360Tyr)
c.3505G>T (p.Asp1169Tyr)
c.3451G>T (p.Asp1151Tyr)
c.*219G>T (n.*219G>T)
c.3427G>T (p.Asp1143Tyr)
c.991G>T
c.3052G>T (p.Asp1018Tyr)
n.1967G>T
n.1069G>T
c.5185G>T (p.Asp1729Tyr)
c.5227G>T (p.Asp1743Tyr)
c.5206G>T (p.Asp1736Tyr)
c.5200G>T (p.Asp1734Tyr)
c.5179G>T (p.Asp1727Tyr)
c.4090G>T (p.Asp1364Tyr)
c.5188G>T (p.Asp1730Tyr)
n.1070G>T
11g.70473204C>GCA381676128SHANK2c.3448G>C (p.Asp1150His)
c.993G>C (n.993G>C)
c.5215G>C (p.Asp1739His)
c.2724G>C
c.4078G>C (p.Asp1360His)
c.3505G>C (p.Asp1169His)
c.3451G>C (p.Asp1151His)
c.*219G>C (n.*219G>C)
c.3427G>C (p.Asp1143His)
c.991G>C
c.3052G>C (p.Asp1018His)
n.1967G>C
n.1069G>C
c.5185G>C (p.Asp1729His)
c.5227G>C (p.Asp1743His)
c.5206G>C (p.Asp1736His)
c.5200G>C (p.Asp1734His)
c.5179G>C (p.Asp1727His)
c.4090G>C (p.Asp1364His)
c.5188G>C (p.Asp1730His)
n.1070G>C
11g.70473204C>TCA381676131SHANK2c.3448G>A (p.Asp1150Asn)
c.993G>A (n.993G>A)
c.5215G>A (p.Asp1739Asn)
c.2724G>A
c.4078G>A (p.Asp1360Asn)
c.3505G>A (p.Asp1169Asn)
c.3451G>A (p.Asp1151Asn)
c.*219G>A (n.*219G>A)
c.3427G>A (p.Asp1143Asn)
c.991G>A
c.3052G>A (p.Asp1018Asn)
n.1967G>A
n.1069G>A
c.5185G>A (p.Asp1729Asn)
c.5227G>A (p.Asp1743Asn)
c.5206G>A (p.Asp1736Asn)
c.5200G>A (p.Asp1734Asn)
c.5179G>A (p.Asp1727Asn)
c.4090G>A (p.Asp1364Asn)
c.5188G>A (p.Asp1730Asn)
n.1070G>A
11g.70473205T>ACA475470603SHANK2c.3447A>T (p.Ser1149=)
c.992A>T (n.992A>T)
c.5214A>T (p.Ser1738=)
c.2723A>T
c.4077A>T (p.Ser1359=)
c.3504A>T (p.Ser1168=)
c.3450A>T (p.Ser1150=)
c.*218A>T (n.*218A>T)
c.3426A>T (p.Ser1142=)
c.990A>T
c.3051A>T (p.Ser1017=)
n.1966A>T
n.1068A>T
c.5184A>T (p.Ser1728=)
c.5226A>T (p.Ser1742=)
c.5205A>T (p.Ser1735=)
c.5199A>T (p.Ser1733=)
c.5178A>T (p.Ser1726=)
c.4089A>T (p.Ser1363=)
c.5187A>T (p.Ser1729=)
n.1069A>T
11g.70473205T>CCA475470605SHANK2c.3447A>G (p.Ser1149=)
c.992A>G (n.992A>G)
c.5214A>G (p.Ser1738=)
c.2723A>G
c.4077A>G (p.Ser1359=)
c.3504A>G (p.Ser1168=)
c.3450A>G (p.Ser1150=)
c.*218A>G (n.*218A>G)
c.3426A>G (p.Ser1142=)
c.990A>G
c.3051A>G (p.Ser1017=)
n.1966A>G
n.1068A>G
c.5184A>G (p.Ser1728=)
c.5226A>G (p.Ser1742=)
c.5205A>G (p.Ser1735=)
c.5199A>G (p.Ser1733=)
c.5178A>G (p.Ser1726=)
c.4089A>G (p.Ser1363=)
c.5187A>G (p.Ser1729=)
n.1069A>G
11g.70473205T>GCA475470604SHANK2c.3447A>C (p.Ser1149=)
c.992A>C (n.992A>C)
c.5214A>C (p.Ser1738=)
c.2723A>C
c.4077A>C (p.Ser1359=)
c.3504A>C (p.Ser1168=)
c.3450A>C (p.Ser1150=)
c.*218A>C (n.*218A>C)
c.3426A>C (p.Ser1142=)
c.990A>C
c.3051A>C (p.Ser1017=)
n.1966A>C
n.1068A>C
c.5184A>C (p.Ser1728=)
c.5226A>C (p.Ser1742=)
c.5205A>C (p.Ser1735=)
c.5199A>C (p.Ser1733=)
c.5178A>C (p.Ser1726=)
c.4089A>C (p.Ser1363=)
c.5187A>C (p.Ser1729=)
n.1069A>C
 gnomAD v4
11g.70473206G>ACA381676132SHANK2c.3446C>T (p.Ser1149Leu)
c.991C>T (n.991C>T)
c.5213C>T (p.Ser1738Leu)
c.2722C>T
c.4076C>T (p.Ser1359Leu)
c.3503C>T (p.Ser1168Leu)
c.3449C>T (p.Ser1150Leu)
c.*217C>T (n.*217C>T)
c.3425C>T (p.Ser1142Leu)
c.989C>T
c.3050C>T (p.Ser1017Leu)
n.1965C>T
n.1067C>T
c.5183C>T (p.Ser1728Leu)
c.5225C>T (p.Ser1742Leu)
c.5204C>T (p.Ser1735Leu)
c.5198C>T (p.Ser1733Leu)
c.5177C>T (p.Ser1726Leu)
c.4088C>T (p.Ser1363Leu)
c.5186C>T (p.Ser1729Leu)
n.1068C>T
11g.70473206G>CCA381676133SHANK2c.3446C>G (p.Ser1149Ter)
c.991C>G (n.991C>G)
c.5213C>G (p.Ser1738Ter)
c.2722C>G
c.4076C>G (p.Ser1359Ter)
c.3503C>G (p.Ser1168Ter)
c.3449C>G (p.Ser1150Ter)
c.*217C>G (n.*217C>G)
c.3425C>G (p.Ser1142Ter)
c.989C>G
c.3050C>G (p.Ser1017Ter)
n.1965C>G
n.1067C>G
c.5183C>G (p.Ser1728Ter)
c.5225C>G (p.Ser1742Ter)
c.5204C>G (p.Ser1735Ter)
c.5198C>G (p.Ser1733Ter)
c.5177C>G (p.Ser1726Ter)
c.4088C>G (p.Ser1363Ter)
c.5186C>G (p.Ser1729Ter)
n.1068C>G
11g.70473206G>TCA381676137SHANK2c.3446C>A (p.Ser1149Ter)
c.991C>A (n.991C>A)
c.5213C>A (p.Ser1738Ter)
c.2722C>A
c.4076C>A (p.Ser1359Ter)
c.3503C>A (p.Ser1168Ter)
c.3449C>A (p.Ser1150Ter)
c.*217C>A (n.*217C>A)
c.3425C>A (p.Ser1142Ter)
c.989C>A
c.3050C>A (p.Ser1017Ter)
n.1965C>A
n.1067C>A
c.5183C>A (p.Ser1728Ter)
c.5225C>A (p.Ser1742Ter)
c.5204C>A (p.Ser1735Ter)
c.5198C>A (p.Ser1733Ter)
c.5177C>A (p.Ser1726Ter)
c.4088C>A (p.Ser1363Ter)
c.5186C>A (p.Ser1729Ter)
n.1068C>A
11g.70473207A=CA1981067946SHANK2c.3445T= (p.Ser1149=)
c.990T= (n.990T=)
c.5212T= (p.Ser1738=)
c.2721T=
c.4075T= (p.Ser1359=)
c.3502T= (p.Ser1168=)
c.3448T= (p.Ser1150=)
c.*216T= (n.*216T=)
c.3424T= (p.Ser1142=)
c.988T=
c.3049T= (p.Ser1017=)
n.1964T=
n.1066T=
c.5182T= (p.Ser1728=)
c.5224T= (p.Ser1742=)
c.5203T= (p.Ser1735=)
c.5197T= (p.Ser1733=)
c.5176T= (p.Ser1726=)
c.4087T= (p.Ser1363=)
c.5185T= (p.Ser1729=)
n.1067T=
11g.70473207A>CCA381676140SHANK2c.3445T>G (p.Ser1149Ala)
c.990T>G (n.990T>G)
c.5212T>G (p.Ser1738Ala)
c.2721T>G
c.4075T>G (p.Ser1359Ala)
c.3502T>G (p.Ser1168Ala)
c.3448T>G (p.Ser1150Ala)
c.*216T>G (n.*216T>G)
c.3424T>G (p.Ser1142Ala)
c.988T>G
c.3049T>G (p.Ser1017Ala)
n.1964T>G
n.1066T>G
c.5182T>G (p.Ser1728Ala)
c.5224T>G (p.Ser1742Ala)
c.5203T>G (p.Ser1735Ala)
c.5197T>G (p.Ser1733Ala)
c.5176T>G (p.Ser1726Ala)
c.4087T>G (p.Ser1363Ala)
c.5185T>G (p.Ser1729Ala)
n.1067T>G
11g.70473207A>GCA223591788SHANK2c.3445T>C (p.Ser1149Pro)
c.990T>C (n.990T>C)
c.5212T>C (p.Ser1738Pro)
c.2721T>C
c.4075T>C (p.Ser1359Pro)
c.3502T>C (p.Ser1168Pro)
c.3448T>C (p.Ser1150Pro)
c.*216T>C (n.*216T>C)
c.3424T>C (p.Ser1142Pro)
c.988T>C
c.3049T>C (p.Ser1017Pro)
n.1964T>C
n.1066T>C
c.5182T>C (p.Ser1728Pro)
c.5224T>C (p.Ser1742Pro)
c.5203T>C (p.Ser1735Pro)
c.5197T>C (p.Ser1733Pro)
c.5176T>C (p.Ser1726Pro)
c.4087T>C (p.Ser1363Pro)
c.5185T>C (p.Ser1729Pro)
n.1067T>C
 dbSNP gnomAD v2 gnomAD v4
11g.70473207A>TCA381676143SHANK2c.3445T>A (p.Ser1149Thr)
c.990T>A (n.990T>A)
c.5212T>A (p.Ser1738Thr)
c.2721T>A
c.4075T>A (p.Ser1359Thr)
c.3502T>A (p.Ser1168Thr)
c.3448T>A (p.Ser1150Thr)
c.*216T>A (n.*216T>A)
c.3424T>A (p.Ser1142Thr)
c.988T>A
c.3049T>A (p.Ser1017Thr)
n.1964T>A
n.1066T>A
c.5182T>A (p.Ser1728Thr)
c.5224T>A (p.Ser1742Thr)
c.5203T>A (p.Ser1735Thr)
c.5197T>A (p.Ser1733Thr)
c.5176T>A (p.Ser1726Thr)
c.4087T>A (p.Ser1363Thr)
c.5185T>A (p.Ser1729Thr)
n.1067T>A
11g.70473208G>ACA475470608SHANK2c.3444C>T (p.Leu1148=)
c.989C>T (n.989C>T)
c.5211C>T (p.Leu1737=)
c.2720C>T
c.4074C>T (p.Leu1358=)
c.3501C>T (p.Leu1167=)
c.3447C>T (p.Leu1149=)
c.*215C>T (n.*215C>T)
c.3423C>T (p.Leu1141=)
c.987C>T
c.3048C>T (p.Leu1016=)
n.1963C>T
n.1065C>T
c.5181C>T (p.Leu1727=)
c.5223C>T (p.Leu1741=)
c.5202C>T (p.Leu1734=)
c.5196C>T (p.Leu1732=)
c.5175C>T (p.Leu1725=)
c.4086C>T (p.Leu1362=)
c.5184C>T (p.Leu1728=)
n.1066C>T
11g.70473208G>CCA475470609SHANK2c.3444C>G (p.Leu1148=)
c.989C>G (n.989C>G)
c.5211C>G (p.Leu1737=)
c.2720C>G
c.4074C>G (p.Leu1358=)
c.3501C>G (p.Leu1167=)
c.3447C>G (p.Leu1149=)
c.*215C>G (n.*215C>G)
c.3423C>G (p.Leu1141=)
c.987C>G
c.3048C>G (p.Leu1016=)
n.1963C>G
n.1065C>G
c.5181C>G (p.Leu1727=)
c.5223C>G (p.Leu1741=)
c.5202C>G (p.Leu1734=)
c.5196C>G (p.Leu1732=)
c.5175C>G (p.Leu1725=)
c.4086C>G (p.Leu1362=)
c.5184C>G (p.Leu1728=)
n.1066C>G
11g.70473208G>TCA475470611SHANK2c.3444C>A (p.Leu1148=)
c.989C>A (n.989C>A)
c.5211C>A (p.Leu1737=)
c.2720C>A
c.4074C>A (p.Leu1358=)
c.3501C>A (p.Leu1167=)
c.3447C>A (p.Leu1149=)
c.*215C>A (n.*215C>A)
c.3423C>A (p.Leu1141=)
c.987C>A
c.3048C>A (p.Leu1016=)
n.1963C>A
n.1065C>A
c.5181C>A (p.Leu1727=)
c.5223C>A (p.Leu1741=)
c.5202C>A (p.Leu1734=)
c.5196C>A (p.Leu1732=)
c.5175C>A (p.Leu1725=)
c.4086C>A (p.Leu1362=)
c.5184C>A (p.Leu1728=)
n.1066C>A
11g.70473209A>CCA381676146SHANK2c.3443T>G (p.Leu1148Arg)
c.988T>G (n.988T>G)
c.5210T>G (p.Leu1737Arg)
c.2719T>G
c.4073T>G (p.Leu1358Arg)
c.3500T>G (p.Leu1167Arg)
c.3446T>G (p.Leu1149Arg)
c.*214T>G (n.*214T>G)
c.3422T>G (p.Leu1141Arg)
c.986T>G
c.3047T>G (p.Leu1016Arg)
n.1962T>G
n.1064T>G
c.5180T>G (p.Leu1727Arg)
c.5222T>G (p.Leu1741Arg)
c.5201T>G (p.Leu1734Arg)
c.5195T>G (p.Leu1732Arg)
c.5174T>G (p.Leu1725Arg)
c.4085T>G (p.Leu1362Arg)
c.5183T>G (p.Leu1728Arg)
n.1065T>G
11g.70473209A>GCA381676149SHANK2c.3443T>C (p.Leu1148Pro)
c.988T>C (n.988T>C)
c.5210T>C (p.Leu1737Pro)
c.2719T>C
c.4073T>C (p.Leu1358Pro)
c.3500T>C (p.Leu1167Pro)
c.3446T>C (p.Leu1149Pro)
c.*214T>C (n.*214T>C)
c.3422T>C (p.Leu1141Pro)
c.986T>C
c.3047T>C (p.Leu1016Pro)
n.1962T>C
n.1064T>C
c.5180T>C (p.Leu1727Pro)
c.5222T>C (p.Leu1741Pro)
c.5201T>C (p.Leu1734Pro)
c.5195T>C (p.Leu1732Pro)
c.5174T>C (p.Leu1725Pro)
c.4085T>C (p.Leu1362Pro)
c.5183T>C (p.Leu1728Pro)
n.1065T>C
11g.70473209A>TCA381676148SHANK2c.3443T>A (p.Leu1148His)
c.988T>A (n.988T>A)
c.5210T>A (p.Leu1737His)
c.2719T>A
c.4073T>A (p.Leu1358His)
c.3500T>A (p.Leu1167His)
c.3446T>A (p.Leu1149His)
c.*214T>A (n.*214T>A)
c.3422T>A (p.Leu1141His)
c.986T>A
c.3047T>A (p.Leu1016His)
n.1962T>A
n.1064T>A
c.5180T>A (p.Leu1727His)
c.5222T>A (p.Leu1741His)
c.5201T>A (p.Leu1734His)
c.5195T>A (p.Leu1732His)
c.5174T>A (p.Leu1725His)
c.4085T>A (p.Leu1362His)
c.5183T>A (p.Leu1728His)
n.1065T>A
11g.70473210G>ACA381676151SHANK2c.3442C>T (p.Leu1148Phe)
c.987C>T (n.987C>T)
c.5209C>T (p.Leu1737Phe)
c.2718C>T
c.4072C>T (p.Leu1358Phe)
c.3499C>T (p.Leu1167Phe)
c.3445C>T (p.Leu1149Phe)
c.*213C>T (n.*213C>T)
c.3421C>T (p.Leu1141Phe)
c.985C>T
c.3046C>T (p.Leu1016Phe)
n.1961C>T
n.1063C>T
c.5179C>T (p.Leu1727Phe)
c.5221C>T (p.Leu1741Phe)
c.5200C>T (p.Leu1734Phe)
c.5194C>T (p.Leu1732Phe)
c.5173C>T (p.Leu1725Phe)
c.4084C>T (p.Leu1362Phe)
c.5182C>T (p.Leu1728Phe)
n.1064C>T
11g.70473210G>CCA381676153SHANK2c.3442C>G (p.Leu1148Val)
c.987C>G (n.987C>G)
c.5209C>G (p.Leu1737Val)
c.2718C>G
c.4072C>G (p.Leu1358Val)
c.3499C>G (p.Leu1167Val)
c.3445C>G (p.Leu1149Val)
c.*213C>G (n.*213C>G)
c.3421C>G (p.Leu1141Val)
c.985C>G
c.3046C>G (p.Leu1016Val)
n.1961C>G
n.1063C>G
c.5179C>G (p.Leu1727Val)
c.5221C>G (p.Leu1741Val)
c.5200C>G (p.Leu1734Val)
c.5194C>G (p.Leu1732Val)
c.5173C>G (p.Leu1725Val)
c.4084C>G (p.Leu1362Val)
c.5182C>G (p.Leu1728Val)
n.1064C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473210G=CA1981067947SHANK2c.3442C= (p.Leu1148=)
c.987C= (n.987C=)
c.5209C= (p.Leu1737=)
c.2718C=
c.4072C= (p.Leu1358=)
c.3499C= (p.Leu1167=)
c.3445C= (p.Leu1149=)
c.*213C= (n.*213C=)
c.3421C= (p.Leu1141=)
c.985C=
c.3046C= (p.Leu1016=)
n.1961C=
n.1063C=
c.5179C= (p.Leu1727=)
c.5221C= (p.Leu1741=)
c.5200C= (p.Leu1734=)
c.5194C= (p.Leu1732=)
c.5173C= (p.Leu1725=)
c.4084C= (p.Leu1362=)
c.5182C= (p.Leu1728=)
n.1064C=
11g.70473210G>TCA381676155SHANK2c.3442C>A (p.Leu1148Ile)
c.987C>A (n.987C>A)
c.5209C>A (p.Leu1737Ile)
c.2718C>A
c.4072C>A (p.Leu1358Ile)
c.3499C>A (p.Leu1167Ile)
c.3445C>A (p.Leu1149Ile)
c.*213C>A (n.*213C>A)
c.3421C>A (p.Leu1141Ile)
c.985C>A
c.3046C>A (p.Leu1016Ile)
n.1961C>A
n.1063C>A
c.5179C>A (p.Leu1727Ile)
c.5221C>A (p.Leu1741Ile)
c.5200C>A (p.Leu1734Ile)
c.5194C>A (p.Leu1732Ile)
c.5173C>A (p.Leu1725Ile)
c.4084C>A (p.Leu1362Ile)
c.5182C>A (p.Leu1728Ile)
n.1064C>A
11g.70473211A>CCA475470614SHANK2c.3441T>G (p.Ala1147=)
c.986T>G (n.986T>G)
c.5208T>G (p.Ala1736=)
c.2717T>G
c.4071T>G (p.Ala1357=)
c.3498T>G (p.Ala1166=)
c.3444T>G (p.Ala1148=)
c.*212T>G (n.*212T>G)
c.3420T>G (p.Ala1140=)
c.984T>G
c.3045T>G (p.Ala1015=)
n.1960T>G
n.1062T>G
c.5178T>G (p.Ala1726=)
c.5220T>G (p.Ala1740=)
c.5199T>G (p.Ala1733=)
c.5193T>G (p.Ala1731=)
c.5172T>G (p.Ala1724=)
c.4083T>G (p.Ala1361=)
c.5181T>G (p.Ala1727=)
n.1063T>G
11g.70473211A>GCA475470616SHANK2c.3441T>C (p.Ala1147=)
c.986T>C (n.986T>C)
c.5208T>C (p.Ala1736=)
c.2717T>C
c.4071T>C (p.Ala1357=)
c.3498T>C (p.Ala1166=)
c.3444T>C (p.Ala1148=)
c.*212T>C (n.*212T>C)
c.3420T>C (p.Ala1140=)
c.984T>C
c.3045T>C (p.Ala1015=)
n.1960T>C
n.1062T>C
c.5178T>C (p.Ala1726=)
c.5220T>C (p.Ala1740=)
c.5199T>C (p.Ala1733=)
c.5193T>C (p.Ala1731=)
c.5172T>C (p.Ala1724=)
c.4083T>C (p.Ala1361=)
c.5181T>C (p.Ala1727=)
n.1063T>C
11g.70473211A>TCA475470615SHANK2c.3441T>A (p.Ala1147=)
c.986T>A (n.986T>A)
c.5208T>A (p.Ala1736=)
c.2717T>A
c.4071T>A (p.Ala1357=)
c.3498T>A (p.Ala1166=)
c.3444T>A (p.Ala1148=)
c.*212T>A (n.*212T>A)
c.3420T>A (p.Ala1140=)
c.984T>A
c.3045T>A (p.Ala1015=)
n.1960T>A
n.1062T>A
c.5178T>A (p.Ala1726=)
c.5220T>A (p.Ala1740=)
c.5199T>A (p.Ala1733=)
c.5193T>A (p.Ala1731=)
c.5172T>A (p.Ala1724=)
c.4083T>A (p.Ala1361=)
c.5181T>A (p.Ala1727=)
n.1063T>A
11g.70473212G>ACA6160742SHANK2c.3440C>T (p.Ala1147Val)
c.985C>T (n.985C>T)
c.5207C>T (p.Ala1736Val)
c.2716C>T
c.4070C>T (p.Ala1357Val)
c.3497C>T (p.Ala1166Val)
c.3443C>T (p.Ala1148Val)
c.*211C>T (n.*211C>T)
c.3419C>T (p.Ala1140Val)
c.983C>T
c.3044C>T (p.Ala1015Val)
n.1959C>T
n.1061C>T
c.5177C>T (p.Ala1726Val)
c.5219C>T (p.Ala1740Val)
c.5198C>T (p.Ala1733Val)
c.5192C>T (p.Ala1731Val)
c.5171C>T (p.Ala1724Val)
c.4082C>T (p.Ala1361Val)
c.5180C>T (p.Ala1727Val)
n.1062C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473212G>CCA381676158SHANK2c.3440C>G (p.Ala1147Gly)
c.985C>G (n.985C>G)
c.5207C>G (p.Ala1736Gly)
c.2716C>G
c.4070C>G (p.Ala1357Gly)
c.3497C>G (p.Ala1166Gly)
c.3443C>G (p.Ala1148Gly)
c.*211C>G (n.*211C>G)
c.3419C>G (p.Ala1140Gly)
c.983C>G
c.3044C>G (p.Ala1015Gly)
n.1959C>G
n.1061C>G
c.5177C>G (p.Ala1726Gly)
c.5219C>G (p.Ala1740Gly)
c.5198C>G (p.Ala1733Gly)
c.5192C>G (p.Ala1731Gly)
c.5171C>G (p.Ala1724Gly)
c.4082C>G (p.Ala1361Gly)
c.5180C>G (p.Ala1727Gly)
n.1062C>G
11g.70473212G=CA1981067948SHANK2c.3440C= (p.Ala1147=)
c.985C= (n.985C=)
c.5207C= (p.Ala1736=)
c.2716C=
c.4070C= (p.Ala1357=)
c.3497C= (p.Ala1166=)
c.3443C= (p.Ala1148=)
c.*211C= (n.*211C=)
c.3419C= (p.Ala1140=)
c.983C=
c.3044C= (p.Ala1015=)
n.1959C=
n.1061C=
c.5177C= (p.Ala1726=)
c.5219C= (p.Ala1740=)
c.5198C= (p.Ala1733=)
c.5192C= (p.Ala1731=)
c.5171C= (p.Ala1724=)
c.4082C= (p.Ala1361=)
c.5180C= (p.Ala1727=)
n.1062C=
11g.70473212G>TCA381676160SHANK2c.3440C>A (p.Ala1147Asp)
c.985C>A (n.985C>A)
c.5207C>A (p.Ala1736Asp)
c.2716C>A
c.4070C>A (p.Ala1357Asp)
c.3497C>A (p.Ala1166Asp)
c.3443C>A (p.Ala1148Asp)
c.*211C>A (n.*211C>A)
c.3419C>A (p.Ala1140Asp)
c.983C>A
c.3044C>A (p.Ala1015Asp)
n.1959C>A
n.1061C>A
c.5177C>A (p.Ala1726Asp)
c.5219C>A (p.Ala1740Asp)
c.5198C>A (p.Ala1733Asp)
c.5192C>A (p.Ala1731Asp)
c.5171C>A (p.Ala1724Asp)
c.4082C>A (p.Ala1361Asp)
c.5180C>A (p.Ala1727Asp)
n.1062C>A
11g.70473213C>ACA6160744SHANK2c.3439G>T (p.Ala1147Ser)
c.984G>T (n.984G>T)
c.5206G>T (p.Ala1736Ser)
c.2715G>T
c.4069G>T (p.Ala1357Ser)
c.3496G>T (p.Ala1166Ser)
c.3442G>T (p.Ala1148Ser)
c.*210G>T (n.*210G>T)
c.3418G>T (p.Ala1140Ser)
c.982G>T
c.3043G>T (p.Ala1015Ser)
n.1958G>T
n.1060G>T
c.5176G>T (p.Ala1726Ser)
c.5218G>T (p.Ala1740Ser)
c.5197G>T (p.Ala1733Ser)
c.5191G>T (p.Ala1731Ser)
c.5170G>T (p.Ala1724Ser)
c.4081G>T (p.Ala1361Ser)
c.5179G>T (p.Ala1727Ser)
n.1061G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473213C=CA1981067949SHANK2c.3439G= (p.Ala1147=)
c.984G= (n.984G=)
c.5206G= (p.Ala1736=)
c.2715G=
c.4069G= (p.Ala1357=)
c.3496G= (p.Ala1166=)
c.3442G= (p.Ala1148=)
c.*210G= (n.*210G=)
c.3418G= (p.Ala1140=)
c.982G=
c.3043G= (p.Ala1015=)
n.1958G=
n.1060G=
c.5176G= (p.Ala1726=)
c.5218G= (p.Ala1740=)
c.5197G= (p.Ala1733=)
c.5191G= (p.Ala1731=)
c.5170G= (p.Ala1724=)
c.4081G= (p.Ala1361=)
c.5179G= (p.Ala1727=)
n.1061G=
11g.70473213C>GCA381676162SHANK2c.3439G>C (p.Ala1147Pro)
c.984G>C (n.984G>C)
c.5206G>C (p.Ala1736Pro)
c.2715G>C
c.4069G>C (p.Ala1357Pro)
c.3496G>C (p.Ala1166Pro)
c.3442G>C (p.Ala1148Pro)
c.*210G>C (n.*210G>C)
c.3418G>C (p.Ala1140Pro)
c.982G>C
c.3043G>C (p.Ala1015Pro)
n.1958G>C
n.1060G>C
c.5176G>C (p.Ala1726Pro)
c.5218G>C (p.Ala1740Pro)
c.5197G>C (p.Ala1733Pro)
c.5191G>C (p.Ala1731Pro)
c.5170G>C (p.Ala1724Pro)
c.4081G>C (p.Ala1361Pro)
c.5179G>C (p.Ala1727Pro)
n.1061G>C
11g.70473213C>TCA6160743SHANK2c.3439G>A (p.Ala1147Thr)
c.984G>A (n.984G>A)
c.5206G>A (p.Ala1736Thr)
c.2715G>A
c.4069G>A (p.Ala1357Thr)
c.3496G>A (p.Ala1166Thr)
c.3442G>A (p.Ala1148Thr)
c.*210G>A (n.*210G>A)
c.3418G>A (p.Ala1140Thr)
c.982G>A
c.3043G>A (p.Ala1015Thr)
n.1958G>A
n.1060G>A
c.5176G>A (p.Ala1726Thr)
c.5218G>A (p.Ala1740Thr)
c.5197G>A (p.Ala1733Thr)
c.5191G>A (p.Ala1731Thr)
c.5170G>A (p.Ala1724Thr)
c.4081G>A (p.Ala1361Thr)
c.5179G>A (p.Ala1727Thr)
n.1061G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473214G>ACA6160745SHANK2c.3438C>T (p.Pro1146=)
c.983C>T (n.983C>T)
c.5205C>T (p.Pro1735=)
c.2714C>T
c.4068C>T (p.Pro1356=)
c.3495C>T (p.Pro1165=)
c.3441C>T (p.Pro1147=)
c.*209C>T (n.*209C>T)
c.3417C>T (p.Pro1139=)
c.981C>T
c.3042C>T (p.Pro1014=)
n.1957C>T
n.1059C>T
c.5175C>T (p.Pro1725=)
c.5217C>T (p.Pro1739=)
c.5196C>T (p.Pro1732=)
c.5190C>T (p.Pro1730=)
c.5169C>T (p.Pro1723=)
c.4080C>T (p.Pro1360=)
c.5178C>T (p.Pro1726=)
n.1060C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473214G>CCA475470620SHANK2c.3438C>G (p.Pro1146=)
c.983C>G (n.983C>G)
c.5205C>G (p.Pro1735=)
c.2714C>G
c.4068C>G (p.Pro1356=)
c.3495C>G (p.Pro1165=)
c.3441C>G (p.Pro1147=)
c.*209C>G (n.*209C>G)
c.3417C>G (p.Pro1139=)
c.981C>G
c.3042C>G (p.Pro1014=)
n.1957C>G
n.1059C>G
c.5175C>G (p.Pro1725=)
c.5217C>G (p.Pro1739=)
c.5196C>G (p.Pro1732=)
c.5190C>G (p.Pro1730=)
c.5169C>G (p.Pro1723=)
c.4080C>G (p.Pro1360=)
c.5178C>G (p.Pro1726=)
n.1060C>G
11g.70473214G=CA1981067950SHANK2c.3438C= (p.Pro1146=)
c.983C= (n.983C=)
c.5205C= (p.Pro1735=)
c.2714C=
c.4068C= (p.Pro1356=)
c.3495C= (p.Pro1165=)
c.3441C= (p.Pro1147=)
c.*209C= (n.*209C=)
c.3417C= (p.Pro1139=)
c.981C=
c.3042C= (p.Pro1014=)
n.1957C=
n.1059C=
c.5175C= (p.Pro1725=)
c.5217C= (p.Pro1739=)
c.5196C= (p.Pro1732=)
c.5190C= (p.Pro1730=)
c.5169C= (p.Pro1723=)
c.4080C= (p.Pro1360=)
c.5178C= (p.Pro1726=)
n.1060C=
11g.70473214G>TCA475470621SHANK2c.3438C>A (p.Pro1146=)
c.983C>A (n.983C>A)
c.5205C>A (p.Pro1735=)
c.2714C>A
c.4068C>A (p.Pro1356=)
c.3495C>A (p.Pro1165=)
c.3441C>A (p.Pro1147=)
c.*209C>A (n.*209C>A)
c.3417C>A (p.Pro1139=)
c.981C>A
c.3042C>A (p.Pro1014=)
n.1957C>A
n.1059C>A
c.5175C>A (p.Pro1725=)
c.5217C>A (p.Pro1739=)
c.5196C>A (p.Pro1732=)
c.5190C>A (p.Pro1730=)
c.5169C>A (p.Pro1723=)
c.4080C>A (p.Pro1360=)
c.5178C>A (p.Pro1726=)
n.1060C>A
11g.70473215G>ACA381676166SHANK2c.3437C>T (p.Pro1146Leu)
c.982C>T (n.982C>T)
c.5204C>T (p.Pro1735Leu)
c.2713C>T
c.4067C>T (p.Pro1356Leu)
c.3494C>T (p.Pro1165Leu)
c.3440C>T (p.Pro1147Leu)
c.*208C>T (n.*208C>T)
c.3416C>T (p.Pro1139Leu)
c.980C>T
c.3041C>T (p.Pro1014Leu)
n.1956C>T
n.1058C>T
c.5174C>T (p.Pro1725Leu)
c.5216C>T (p.Pro1739Leu)
c.5195C>T (p.Pro1732Leu)
c.5189C>T (p.Pro1730Leu)
c.5168C>T (p.Pro1723Leu)
c.4079C>T (p.Pro1360Leu)
c.5177C>T (p.Pro1726Leu)
n.1059C>T
 gnomAD v4
11g.70473215G>CCA381676168SHANK2c.3437C>G (p.Pro1146Arg)
c.982C>G (n.982C>G)
c.5204C>G (p.Pro1735Arg)
c.2713C>G
c.4067C>G (p.Pro1356Arg)
c.3494C>G (p.Pro1165Arg)
c.3440C>G (p.Pro1147Arg)
c.*208C>G (n.*208C>G)
c.3416C>G (p.Pro1139Arg)
c.980C>G
c.3041C>G (p.Pro1014Arg)
n.1956C>G
n.1058C>G
c.5174C>G (p.Pro1725Arg)
c.5216C>G (p.Pro1739Arg)
c.5195C>G (p.Pro1732Arg)
c.5189C>G (p.Pro1730Arg)
c.5168C>G (p.Pro1723Arg)
c.4079C>G (p.Pro1360Arg)
c.5177C>G (p.Pro1726Arg)
n.1059C>G
11g.70473215G>TCA381676170SHANK2c.3437C>A (p.Pro1146His)
c.982C>A (n.982C>A)
c.5204C>A (p.Pro1735His)
c.2713C>A
c.4067C>A (p.Pro1356His)
c.3494C>A (p.Pro1165His)
c.3440C>A (p.Pro1147His)
c.*208C>A (n.*208C>A)
c.3416C>A (p.Pro1139His)
c.980C>A
c.3041C>A (p.Pro1014His)
n.1956C>A
n.1058C>A
c.5174C>A (p.Pro1725His)
c.5216C>A (p.Pro1739His)
c.5195C>A (p.Pro1732His)
c.5189C>A (p.Pro1730His)
c.5168C>A (p.Pro1723His)
c.4079C>A (p.Pro1360His)
c.5177C>A (p.Pro1726His)
n.1059C>A
11g.70473216G>ACA381676171SHANK2c.3436C>T (p.Pro1146Ser)
c.981C>T (n.981C>T)
c.5203C>T (p.Pro1735Ser)
c.2712C>T
c.4066C>T (p.Pro1356Ser)
c.3493C>T (p.Pro1165Ser)
c.3439C>T (p.Pro1147Ser)
c.*207C>T (n.*207C>T)
c.3415C>T (p.Pro1139Ser)
c.979C>T
c.3040C>T (p.Pro1014Ser)
n.1955C>T
n.1057C>T
c.5173C>T (p.Pro1725Ser)
c.5215C>T (p.Pro1739Ser)
c.5194C>T (p.Pro1732Ser)
c.5188C>T (p.Pro1730Ser)
c.5167C>T (p.Pro1723Ser)
c.4078C>T (p.Pro1360Ser)
c.5176C>T (p.Pro1726Ser)
n.1058C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473216G>CCA381676175SHANK2c.3436C>G (p.Pro1146Ala)
c.981C>G (n.981C>G)
c.5203C>G (p.Pro1735Ala)
c.2712C>G
c.4066C>G (p.Pro1356Ala)
c.3493C>G (p.Pro1165Ala)
c.3439C>G (p.Pro1147Ala)
c.*207C>G (n.*207C>G)
c.3415C>G (p.Pro1139Ala)
c.979C>G
c.3040C>G (p.Pro1014Ala)
n.1955C>G
n.1057C>G
c.5173C>G (p.Pro1725Ala)
c.5215C>G (p.Pro1739Ala)
c.5194C>G (p.Pro1732Ala)
c.5188C>G (p.Pro1730Ala)
c.5167C>G (p.Pro1723Ala)
c.4078C>G (p.Pro1360Ala)
c.5176C>G (p.Pro1726Ala)
n.1058C>G
11g.70473216G=CA1981067952SHANK2c.3436C= (p.Pro1146=)
c.981C= (n.981C=)
c.5203C= (p.Pro1735=)
c.2712C=
c.4066C= (p.Pro1356=)
c.3493C= (p.Pro1165=)
c.3439C= (p.Pro1147=)
c.*207C= (n.*207C=)
c.3415C= (p.Pro1139=)
c.979C=
c.3040C= (p.Pro1014=)
n.1955C=
n.1057C=
c.5173C= (p.Pro1725=)
c.5215C= (p.Pro1739=)
c.5194C= (p.Pro1732=)
c.5188C= (p.Pro1730=)
c.5167C= (p.Pro1723=)
c.4078C= (p.Pro1360=)
c.5176C= (p.Pro1726=)
n.1058C=
11g.70473216G>TCA381676173SHANK2c.3436C>A (p.Pro1146Thr)
c.981C>A (n.981C>A)
c.5203C>A (p.Pro1735Thr)
c.2712C>A
c.4066C>A (p.Pro1356Thr)
c.3493C>A (p.Pro1165Thr)
c.3439C>A (p.Pro1147Thr)
c.*207C>A (n.*207C>A)
c.3415C>A (p.Pro1139Thr)
c.979C>A
c.3040C>A (p.Pro1014Thr)
n.1955C>A
n.1057C>A
c.5173C>A (p.Pro1725Thr)
c.5215C>A (p.Pro1739Thr)
c.5194C>A (p.Pro1732Thr)
c.5188C>A (p.Pro1730Thr)
c.5167C>A (p.Pro1723Thr)
c.4078C>A (p.Pro1360Thr)
c.5176C>A (p.Pro1726Thr)
n.1058C>A
11g.70473216_70473219delinsGAGACA1981067951SHANK2c.3433_3436delinsTCTC (p.Ser1145=)
c.978_981delinsTCTC (n.978_981delinsTCTC)
c.5200_5203delinsTCTC (p.Ser1734=)
c.2709_2712delinsTCTC
c.4063_4066delinsTCTC (p.Ser1355=)
c.3490_3493delinsTCTC (p.Ser1164=)
c.3436_3439delinsTCTC (p.Ser1146=)
c.*204_*207delinsTCTC (n.*204_*207delinsTCTC)
c.3412_3415delinsTCTC (p.Ser1138=)
c.976_979delinsTCTC
c.3037_3040delinsTCTC (p.Ser1013=)
n.1952_1955delinsTCTC
n.1054_1057delinsTCTC
c.5170_5173delinsTCTC (p.Ser1724=)
c.5212_5215delinsTCTC (p.Ser1738=)
c.5191_5194delinsTCTC (p.Ser1731=)
c.5185_5188delinsTCTC (p.Ser1729=)
c.5164_5167delinsTCTC (p.Ser1722=)
c.4075_4078delinsTCTC (p.Ser1359=)
c.5173_5176delinsTCTC (p.Ser1725=)
n.1055_1058delinsTCTC
11g.70473217A>CCA475470627SHANK2c.3435T>G (p.Ser1145=)
c.980T>G (n.980T>G)
c.5202T>G (p.Ser1734=)
c.2711T>G
c.4065T>G (p.Ser1355=)
c.3492T>G (p.Ser1164=)
c.3438T>G (p.Ser1146=)
c.*206T>G (n.*206T>G)
c.3414T>G (p.Ser1138=)
c.978T>G
c.3039T>G (p.Ser1013=)
n.1954T>G
n.1056T>G
c.5172T>G (p.Ser1724=)
c.5214T>G (p.Ser1738=)
c.5193T>G (p.Ser1731=)
c.5187T>G (p.Ser1729=)
c.5166T>G (p.Ser1722=)
c.4077T>G (p.Ser1359=)
c.5175T>G (p.Ser1725=)
n.1057T>G
11g.70473217A>GCA475470626SHANK2c.3435T>C (p.Ser1145=)
c.980T>C (n.980T>C)
c.5202T>C (p.Ser1734=)
c.2711T>C
c.4065T>C (p.Ser1355=)
c.3492T>C (p.Ser1164=)
c.3438T>C (p.Ser1146=)
c.*206T>C (n.*206T>C)
c.3414T>C (p.Ser1138=)
c.978T>C
c.3039T>C (p.Ser1013=)
n.1954T>C
n.1056T>C
c.5172T>C (p.Ser1724=)
c.5214T>C (p.Ser1738=)
c.5193T>C (p.Ser1731=)
c.5187T>C (p.Ser1729=)
c.5166T>C (p.Ser1722=)
c.4077T>C (p.Ser1359=)
c.5175T>C (p.Ser1725=)
n.1057T>C
 gnomAD v4
11g.70473217A>TCA475470625SHANK2c.3435T>A (p.Ser1145=)
c.980T>A (n.980T>A)
c.5202T>A (p.Ser1734=)
c.2711T>A
c.4065T>A (p.Ser1355=)
c.3492T>A (p.Ser1164=)
c.3438T>A (p.Ser1146=)
c.*206T>A (n.*206T>A)
c.3414T>A (p.Ser1138=)
c.978T>A
c.3039T>A (p.Ser1013=)
n.1954T>A
n.1056T>A
c.5172T>A (p.Ser1724=)
c.5214T>A (p.Ser1738=)
c.5193T>A (p.Ser1731=)
c.5187T>A (p.Ser1729=)
c.5166T>A (p.Ser1722=)
c.4077T>A (p.Ser1359=)
c.5175T>A (p.Ser1725=)
n.1057T>A
11g.70473219_70473221delCA6160746SHANK2c.3433_3435del (p.Ser1145del)
c.978_980del (n.978_980del)
c.5200_5202del (p.Ser1734del)
c.2709_2711del
c.4063_4065del (p.Ser1355del)
c.3490_3492del (p.Ser1164del)
c.3436_3438del (p.Ser1146del)
c.*204_*206del (n.*204_*206del)
c.3412_3414del (p.Ser1138del)
c.976_978del
c.3037_3039del (p.Ser1013del)
n.1952_1954del
n.1054_1056del
c.5170_5172del (p.Ser1724del)
c.5212_5214del (p.Ser1738del)
c.5191_5193del (p.Ser1731del)
c.5185_5187del (p.Ser1729del)
c.5164_5166del (p.Ser1722del)
c.4075_4077del (p.Ser1359del)
c.5173_5175del (p.Ser1725del)
n.1055_1057del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.70473218G>ACA381676177SHANK2c.3434C>T (p.Ser1145Phe)
c.979C>T (n.979C>T)
c.5201C>T (p.Ser1734Phe)
c.2710C>T
c.4064C>T (p.Ser1355Phe)
c.3491C>T (p.Ser1164Phe)
c.3437C>T (p.Ser1146Phe)
c.*205C>T (n.*205C>T)
c.3413C>T (p.Ser1138Phe)
c.977C>T
c.3038C>T (p.Ser1013Phe)
n.1953C>T
n.1055C>T
c.5171C>T (p.Ser1724Phe)
c.5213C>T (p.Ser1738Phe)
c.5192C>T (p.Ser1731Phe)
c.5186C>T (p.Ser1729Phe)
c.5165C>T (p.Ser1722Phe)
c.4076C>T (p.Ser1359Phe)
c.5174C>T (p.Ser1725Phe)
n.1056C>T
11g.70473218G>CCA381676178SHANK2c.3434C>G (p.Ser1145Cys)
c.979C>G (n.979C>G)
c.5201C>G (p.Ser1734Cys)
c.2710C>G
c.4064C>G (p.Ser1355Cys)
c.3491C>G (p.Ser1164Cys)
c.3437C>G (p.Ser1146Cys)
c.*205C>G (n.*205C>G)
c.3413C>G (p.Ser1138Cys)
c.977C>G
c.3038C>G (p.Ser1013Cys)
n.1953C>G
n.1055C>G
c.5171C>G (p.Ser1724Cys)
c.5213C>G (p.Ser1738Cys)
c.5192C>G (p.Ser1731Cys)
c.5186C>G (p.Ser1729Cys)
c.5165C>G (p.Ser1722Cys)
c.4076C>G (p.Ser1359Cys)
c.5174C>G (p.Ser1725Cys)
n.1056C>G
11g.70473218G>TCA381676180SHANK2c.3434C>A (p.Ser1145Tyr)
c.979C>A (n.979C>A)
c.5201C>A (p.Ser1734Tyr)
c.2710C>A
c.4064C>A (p.Ser1355Tyr)
c.3491C>A (p.Ser1164Tyr)
c.3437C>A (p.Ser1146Tyr)
c.*205C>A (n.*205C>A)
c.3413C>A (p.Ser1138Tyr)
c.977C>A
c.3038C>A (p.Ser1013Tyr)
n.1953C>A
n.1055C>A
c.5171C>A (p.Ser1724Tyr)
c.5213C>A (p.Ser1738Tyr)
c.5192C>A (p.Ser1731Tyr)
c.5186C>A (p.Ser1729Tyr)
c.5165C>A (p.Ser1722Tyr)
c.4076C>A (p.Ser1359Tyr)
c.5174C>A (p.Ser1725Tyr)
n.1056C>A
11g.70473219A>CCA381676182SHANK2c.3433T>G (p.Ser1145Ala)
c.978T>G (n.978T>G)
c.5200T>G (p.Ser1734Ala)
c.2709T>G
c.4063T>G (p.Ser1355Ala)
c.3490T>G (p.Ser1164Ala)
c.3436T>G (p.Ser1146Ala)
c.*204T>G (n.*204T>G)
c.3412T>G (p.Ser1138Ala)
c.976T>G
c.3037T>G (p.Ser1013Ala)
n.1952T>G
n.1054T>G
c.5170T>G (p.Ser1724Ala)
c.5212T>G (p.Ser1738Ala)
c.5191T>G (p.Ser1731Ala)
c.5185T>G (p.Ser1729Ala)
c.5164T>G (p.Ser1722Ala)
c.4075T>G (p.Ser1359Ala)
c.5173T>G (p.Ser1725Ala)
n.1055T>G
11g.70473219A>GCA381676184SHANK2c.3433T>C (p.Ser1145Pro)
c.978T>C (n.978T>C)
c.5200T>C (p.Ser1734Pro)
c.2709T>C
c.4063T>C (p.Ser1355Pro)
c.3490T>C (p.Ser1164Pro)
c.3436T>C (p.Ser1146Pro)
c.*204T>C (n.*204T>C)
c.3412T>C (p.Ser1138Pro)
c.976T>C
c.3037T>C (p.Ser1013Pro)
n.1952T>C
n.1054T>C
c.5170T>C (p.Ser1724Pro)
c.5212T>C (p.Ser1738Pro)
c.5191T>C (p.Ser1731Pro)
c.5185T>C (p.Ser1729Pro)
c.5164T>C (p.Ser1722Pro)
c.4075T>C (p.Ser1359Pro)
c.5173T>C (p.Ser1725Pro)
n.1055T>C
 gnomAD v4
11g.70473219A>TCA381676186SHANK2c.3433T>A (p.Ser1145Thr)
c.978T>A (n.978T>A)
c.5200T>A (p.Ser1734Thr)
c.2709T>A
c.4063T>A (p.Ser1355Thr)
c.3490T>A (p.Ser1164Thr)
c.3436T>A (p.Ser1146Thr)
c.*204T>A (n.*204T>A)
c.3412T>A (p.Ser1138Thr)
c.976T>A
c.3037T>A (p.Ser1013Thr)
n.1952T>A
n.1054T>A
c.5170T>A (p.Ser1724Thr)
c.5212T>A (p.Ser1738Thr)
c.5191T>A (p.Ser1731Thr)
c.5185T>A (p.Ser1729Thr)
c.5164T>A (p.Ser1722Thr)
c.4075T>A (p.Ser1359Thr)
c.5173T>A (p.Ser1725Thr)
n.1055T>A
11g.70473220A>CCA475470629SHANK2c.3432T>G (p.Pro1144=)
c.977T>G (n.977T>G)
c.5199T>G (p.Pro1733=)
c.2708T>G
c.4062T>G (p.Pro1354=)
c.3489T>G (p.Pro1163=)
c.3435T>G (p.Pro1145=)
c.*203T>G (n.*203T>G)
c.3411T>G (p.Pro1137=)
c.975T>G
c.3036T>G (p.Pro1012=)
n.1951T>G
n.1053T>G
c.5169T>G (p.Pro1723=)
c.5211T>G (p.Pro1737=)
c.5190T>G (p.Pro1730=)
c.5184T>G (p.Pro1728=)
c.5163T>G (p.Pro1721=)
c.4074T>G (p.Pro1358=)
c.5172T>G (p.Pro1724=)
n.1054T>G
11g.70473220A>GCA475470632SHANK2c.3432T>C (p.Pro1144=)
c.977T>C (n.977T>C)
c.5199T>C (p.Pro1733=)
c.2708T>C
c.4062T>C (p.Pro1354=)
c.3489T>C (p.Pro1163=)
c.3435T>C (p.Pro1145=)
c.*203T>C (n.*203T>C)
c.3411T>C (p.Pro1137=)
c.975T>C
c.3036T>C (p.Pro1012=)
n.1951T>C
n.1053T>C
c.5169T>C (p.Pro1723=)
c.5211T>C (p.Pro1737=)
c.5190T>C (p.Pro1730=)
c.5184T>C (p.Pro1728=)
c.5163T>C (p.Pro1721=)
c.4074T>C (p.Pro1358=)
c.5172T>C (p.Pro1724=)
n.1054T>C
11g.70473220A>TCA475470631SHANK2c.3432T>A (p.Pro1144=)
c.977T>A (n.977T>A)
c.5199T>A (p.Pro1733=)
c.2708T>A
c.4062T>A (p.Pro1354=)
c.3489T>A (p.Pro1163=)
c.3435T>A (p.Pro1145=)
c.*203T>A (n.*203T>A)
c.3411T>A (p.Pro1137=)
c.975T>A
c.3036T>A (p.Pro1012=)
n.1951T>A
n.1053T>A
c.5169T>A (p.Pro1723=)
c.5211T>A (p.Pro1737=)
c.5190T>A (p.Pro1730=)
c.5184T>A (p.Pro1728=)
c.5163T>A (p.Pro1721=)
c.4074T>A (p.Pro1358=)
c.5172T>A (p.Pro1724=)
n.1054T>A
11g.70473221G>ACA6160747SHANK2c.3431C>T (p.Pro1144Leu)
c.976C>T (n.976C>T)
c.5198C>T (p.Pro1733Leu)
c.2707C>T
c.4061C>T (p.Pro1354Leu)
c.3488C>T (p.Pro1163Leu)
c.3434C>T (p.Pro1145Leu)
c.*202C>T (n.*202C>T)
c.3410C>T (p.Pro1137Leu)
c.974C>T
c.3035C>T (p.Pro1012Leu)
n.1950C>T
n.1052C>T
c.5168C>T (p.Pro1723Leu)
c.5210C>T (p.Pro1737Leu)
c.5189C>T (p.Pro1730Leu)
c.5183C>T (p.Pro1728Leu)
c.5162C>T (p.Pro1721Leu)
c.4073C>T (p.Pro1358Leu)
c.5171C>T (p.Pro1724Leu)
n.1053C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473221G>CCA381676189SHANK2c.3431C>G (p.Pro1144Arg)
c.976C>G (n.976C>G)
c.5198C>G (p.Pro1733Arg)
c.2707C>G
c.4061C>G (p.Pro1354Arg)
c.3488C>G (p.Pro1163Arg)
c.3434C>G (p.Pro1145Arg)
c.*202C>G (n.*202C>G)
c.3410C>G (p.Pro1137Arg)
c.974C>G
c.3035C>G (p.Pro1012Arg)
n.1950C>G
n.1052C>G
c.5168C>G (p.Pro1723Arg)
c.5210C>G (p.Pro1737Arg)
c.5189C>G (p.Pro1730Arg)
c.5183C>G (p.Pro1728Arg)
c.5162C>G (p.Pro1721Arg)
c.4073C>G (p.Pro1358Arg)
c.5171C>G (p.Pro1724Arg)
n.1053C>G
11g.70473221G=CA1981067953SHANK2c.3431C= (p.Pro1144=)
c.976C= (n.976C=)
c.5198C= (p.Pro1733=)
c.2707C=
c.4061C= (p.Pro1354=)
c.3488C= (p.Pro1163=)
c.3434C= (p.Pro1145=)
c.*202C= (n.*202C=)
c.3410C= (p.Pro1137=)
c.974C=
c.3035C= (p.Pro1012=)
n.1950C=
n.1052C=
c.5168C= (p.Pro1723=)
c.5210C= (p.Pro1737=)
c.5189C= (p.Pro1730=)
c.5183C= (p.Pro1728=)
c.5162C= (p.Pro1721=)
c.4073C= (p.Pro1358=)
c.5171C= (p.Pro1724=)
n.1053C=
11g.70473221G>TCA381676190SHANK2c.3431C>A (p.Pro1144His)
c.976C>A (n.976C>A)
c.5198C>A (p.Pro1733His)
c.2707C>A
c.4061C>A (p.Pro1354His)
c.3488C>A (p.Pro1163His)
c.3434C>A (p.Pro1145His)
c.*202C>A (n.*202C>A)
c.3410C>A (p.Pro1137His)
c.974C>A
c.3035C>A (p.Pro1012His)
n.1950C>A
n.1052C>A
c.5168C>A (p.Pro1723His)
c.5210C>A (p.Pro1737His)
c.5189C>A (p.Pro1730His)
c.5183C>A (p.Pro1728His)
c.5162C>A (p.Pro1721His)
c.4073C>A (p.Pro1358His)
c.5171C>A (p.Pro1724His)
n.1053C>A
11g.70473222G>ACA381676197SHANK2c.3430C>T (p.Pro1144Ser)
c.975C>T (n.975C>T)
c.5197C>T (p.Pro1733Ser)
c.2706C>T
c.4060C>T (p.Pro1354Ser)
c.3487C>T (p.Pro1163Ser)
c.3433C>T (p.Pro1145Ser)
c.*201C>T (n.*201C>T)
c.3409C>T (p.Pro1137Ser)
c.973C>T
c.3034C>T (p.Pro1012Ser)
n.1949C>T
n.1051C>T
c.5167C>T (p.Pro1723Ser)
c.5209C>T (p.Pro1737Ser)
c.5188C>T (p.Pro1730Ser)
c.5182C>T (p.Pro1728Ser)
c.5161C>T (p.Pro1721Ser)
c.4072C>T (p.Pro1358Ser)
c.5170C>T (p.Pro1724Ser)
n.1052C>T
11g.70473222G>CCA381676199SHANK2c.3430C>G (p.Pro1144Ala)
c.975C>G (n.975C>G)
c.5197C>G (p.Pro1733Ala)
c.2706C>G
c.4060C>G (p.Pro1354Ala)
c.3487C>G (p.Pro1163Ala)
c.3433C>G (p.Pro1145Ala)
c.*201C>G (n.*201C>G)
c.3409C>G (p.Pro1137Ala)
c.973C>G
c.3034C>G (p.Pro1012Ala)
n.1949C>G
n.1051C>G
c.5167C>G (p.Pro1723Ala)
c.5209C>G (p.Pro1737Ala)
c.5188C>G (p.Pro1730Ala)
c.5182C>G (p.Pro1728Ala)
c.5161C>G (p.Pro1721Ala)
c.4072C>G (p.Pro1358Ala)
c.5170C>G (p.Pro1724Ala)
n.1052C>G
11g.70473222G>TCA381676193SHANK2c.3430C>A (p.Pro1144Thr)
c.975C>A (n.975C>A)
c.5197C>A (p.Pro1733Thr)
c.2706C>A
c.4060C>A (p.Pro1354Thr)
c.3487C>A (p.Pro1163Thr)
c.3433C>A (p.Pro1145Thr)
c.*201C>A (n.*201C>A)
c.3409C>A (p.Pro1137Thr)
c.973C>A
c.3034C>A (p.Pro1012Thr)
n.1949C>A
n.1051C>A
c.5167C>A (p.Pro1723Thr)
c.5209C>A (p.Pro1737Thr)
c.5188C>A (p.Pro1730Thr)
c.5182C>A (p.Pro1728Thr)
c.5161C>A (p.Pro1721Thr)
c.4072C>A (p.Pro1358Thr)
c.5170C>A (p.Pro1724Thr)
n.1052C>A
11g.70473223A>CCA475470634SHANK2c.3429T>G (p.Ser1143=)
c.974T>G (n.974T>G)
c.5196T>G (p.Ser1732=)
c.2705T>G
c.4059T>G (p.Ser1353=)
c.3486T>G (p.Ser1162=)
c.3432T>G (p.Ser1144=)
c.*200T>G (n.*200T>G)
c.3408T>G (p.Ser1136=)
c.972T>G
c.3033T>G (p.Ser1011=)
n.1948T>G
n.1050T>G
c.5166T>G (p.Ser1722=)
c.5208T>G (p.Ser1736=)
c.5187T>G (p.Ser1729=)
c.5181T>G (p.Ser1727=)
c.5160T>G (p.Ser1720=)
c.4071T>G (p.Ser1357=)
c.5169T>G (p.Ser1723=)
n.1051T>G
11g.70473223A>GCA475470635SHANK2c.3429T>C (p.Ser1143=)
c.974T>C (n.974T>C)
c.5196T>C (p.Ser1732=)
c.2705T>C
c.4059T>C (p.Ser1353=)
c.3486T>C (p.Ser1162=)
c.3432T>C (p.Ser1144=)
c.*200T>C (n.*200T>C)
c.3408T>C (p.Ser1136=)
c.972T>C
c.3033T>C (p.Ser1011=)
n.1948T>C
n.1050T>C
c.5166T>C (p.Ser1722=)
c.5208T>C (p.Ser1736=)
c.5187T>C (p.Ser1729=)
c.5181T>C (p.Ser1727=)
c.5160T>C (p.Ser1720=)
c.4071T>C (p.Ser1357=)
c.5169T>C (p.Ser1723=)
n.1051T>C
11g.70473223A>TCA475470636SHANK2c.3429T>A (p.Ser1143=)
c.974T>A (n.974T>A)
c.5196T>A (p.Ser1732=)
c.2705T>A
c.4059T>A (p.Ser1353=)
c.3486T>A (p.Ser1162=)
c.3432T>A (p.Ser1144=)
c.*200T>A (n.*200T>A)
c.3408T>A (p.Ser1136=)
c.972T>A
c.3033T>A (p.Ser1011=)
n.1948T>A
n.1050T>A
c.5166T>A (p.Ser1722=)
c.5208T>A (p.Ser1736=)
c.5187T>A (p.Ser1729=)
c.5181T>A (p.Ser1727=)
c.5160T>A (p.Ser1720=)
c.4071T>A (p.Ser1357=)
c.5169T>A (p.Ser1723=)
n.1051T>A
11g.70473224G>ACA381676200SHANK2c.3428C>T (p.Ser1143Phe)
c.973C>T (n.973C>T)
c.5195C>T (p.Ser1732Phe)
c.2704C>T
c.4058C>T (p.Ser1353Phe)
c.3485C>T (p.Ser1162Phe)
c.3431C>T (p.Ser1144Phe)
c.*199C>T (n.*199C>T)
c.3407C>T (p.Ser1136Phe)
c.971C>T
c.3032C>T (p.Ser1011Phe)
n.1947C>T
n.1049C>T
c.5165C>T (p.Ser1722Phe)
c.5207C>T (p.Ser1736Phe)
c.5186C>T (p.Ser1729Phe)
c.5180C>T (p.Ser1727Phe)
c.5159C>T (p.Ser1720Phe)
c.4070C>T (p.Ser1357Phe)
c.5168C>T (p.Ser1723Phe)
n.1050C>T
 gnomAD v4
11g.70473224G>CCA381676202SHANK2c.3428C>G (p.Ser1143Cys)
c.973C>G (n.973C>G)
c.5195C>G (p.Ser1732Cys)
c.2704C>G
c.4058C>G (p.Ser1353Cys)
c.3485C>G (p.Ser1162Cys)
c.3431C>G (p.Ser1144Cys)
c.*199C>G (n.*199C>G)
c.3407C>G (p.Ser1136Cys)
c.971C>G
c.3032C>G (p.Ser1011Cys)
n.1947C>G
n.1049C>G
c.5165C>G (p.Ser1722Cys)
c.5207C>G (p.Ser1736Cys)
c.5186C>G (p.Ser1729Cys)
c.5180C>G (p.Ser1727Cys)
c.5159C>G (p.Ser1720Cys)
c.4070C>G (p.Ser1357Cys)
c.5168C>G (p.Ser1723Cys)
n.1050C>G
11g.70473224G=CA1981067954SHANK2c.3428C= (p.Ser1143=)
c.973C= (n.973C=)
c.5195C= (p.Ser1732=)
c.2704C=
c.4058C= (p.Ser1353=)
c.3485C= (p.Ser1162=)
c.3431C= (p.Ser1144=)
c.*199C= (n.*199C=)
c.3407C= (p.Ser1136=)
c.971C=
c.3032C= (p.Ser1011=)
n.1947C=
n.1049C=
c.5165C= (p.Ser1722=)
c.5207C= (p.Ser1736=)
c.5186C= (p.Ser1729=)
c.5180C= (p.Ser1727=)
c.5159C= (p.Ser1720=)
c.4070C= (p.Ser1357=)
c.5168C= (p.Ser1723=)
n.1050C=
11g.70473224G>TCA6160748SHANK2c.3428C>A (p.Ser1143Tyr)
c.973C>A (n.973C>A)
c.5195C>A (p.Ser1732Tyr)
c.2704C>A
c.4058C>A (p.Ser1353Tyr)
c.3485C>A (p.Ser1162Tyr)
c.3431C>A (p.Ser1144Tyr)
c.*199C>A (n.*199C>A)
c.3407C>A (p.Ser1136Tyr)
c.971C>A
c.3032C>A (p.Ser1011Tyr)
n.1947C>A
n.1049C>A
c.5165C>A (p.Ser1722Tyr)
c.5207C>A (p.Ser1736Tyr)
c.5186C>A (p.Ser1729Tyr)
c.5180C>A (p.Ser1727Tyr)
c.5159C>A (p.Ser1720Tyr)
c.4070C>A (p.Ser1357Tyr)
c.5168C>A (p.Ser1723Tyr)
n.1050C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473225A>CCA381676205SHANK2c.3427T>G (p.Ser1143Ala)
c.972T>G (n.972T>G)
c.5194T>G (p.Ser1732Ala)
c.2703T>G
c.4057T>G (p.Ser1353Ala)
c.3484T>G (p.Ser1162Ala)
c.3430T>G (p.Ser1144Ala)
c.*198T>G (n.*198T>G)
c.3406T>G (p.Ser1136Ala)
c.970T>G
c.3031T>G (p.Ser1011Ala)
n.1946T>G
n.1048T>G
c.5164T>G (p.Ser1722Ala)
c.5206T>G (p.Ser1736Ala)
c.5185T>G (p.Ser1729Ala)
c.5179T>G (p.Ser1727Ala)
c.5158T>G (p.Ser1720Ala)
c.4069T>G (p.Ser1357Ala)
c.5167T>G (p.Ser1723Ala)
n.1049T>G
11g.70473225A>GCA381676206SHANK2c.3427T>C (p.Ser1143Pro)
c.972T>C (n.972T>C)
c.5194T>C (p.Ser1732Pro)
c.2703T>C
c.4057T>C (p.Ser1353Pro)
c.3484T>C (p.Ser1162Pro)
c.3430T>C (p.Ser1144Pro)
c.*198T>C (n.*198T>C)
c.3406T>C (p.Ser1136Pro)
c.970T>C
c.3031T>C (p.Ser1011Pro)
n.1946T>C
n.1048T>C
c.5164T>C (p.Ser1722Pro)
c.5206T>C (p.Ser1736Pro)
c.5185T>C (p.Ser1729Pro)
c.5179T>C (p.Ser1727Pro)
c.5158T>C (p.Ser1720Pro)
c.4069T>C (p.Ser1357Pro)
c.5167T>C (p.Ser1723Pro)
n.1049T>C
11g.70473225A>TCA381676207SHANK2c.3427T>A (p.Ser1143Thr)
c.972T>A (n.972T>A)
c.5194T>A (p.Ser1732Thr)
c.2703T>A
c.4057T>A (p.Ser1353Thr)
c.3484T>A (p.Ser1162Thr)
c.3430T>A (p.Ser1144Thr)
c.*198T>A (n.*198T>A)
c.3406T>A (p.Ser1136Thr)
c.970T>A
c.3031T>A (p.Ser1011Thr)
n.1946T>A
n.1048T>A
c.5164T>A (p.Ser1722Thr)
c.5206T>A (p.Ser1736Thr)
c.5185T>A (p.Ser1729Thr)
c.5179T>A (p.Ser1727Thr)
c.5158T>A (p.Ser1720Thr)
c.4069T>A (p.Ser1357Thr)
c.5167T>A (p.Ser1723Thr)
n.1049T>A
11g.70473226G>ACA475470640SHANK2c.3426C>T (p.Ala1142=)
c.971C>T (n.971C>T)
c.5193C>T (p.Ala1731=)
c.2702C>T
c.4056C>T (p.Ala1352=)
c.3483C>T (p.Ala1161=)
c.3429C>T (p.Ala1143=)
c.*197C>T (n.*197C>T)
c.3405C>T (p.Ala1135=)
c.969C>T
c.3030C>T (p.Ala1010=)
n.1945C>T
n.1047C>T
c.5163C>T (p.Ala1721=)
c.5205C>T (p.Ala1735=)
c.5184C>T (p.Ala1728=)
c.5178C>T (p.Ala1726=)
c.5157C>T (p.Ala1719=)
c.4068C>T (p.Ala1356=)
c.5166C>T (p.Ala1722=)
n.1048C>T
 gnomAD v4
11g.70473226G>CCA475470637SHANK2c.3426C>G (p.Ala1142=)
c.971C>G (n.971C>G)
c.5193C>G (p.Ala1731=)
c.2702C>G
c.4056C>G (p.Ala1352=)
c.3483C>G (p.Ala1161=)
c.3429C>G (p.Ala1143=)
c.*197C>G (n.*197C>G)
c.3405C>G (p.Ala1135=)
c.969C>G
c.3030C>G (p.Ala1010=)
n.1945C>G
n.1047C>G
c.5163C>G (p.Ala1721=)
c.5205C>G (p.Ala1735=)
c.5184C>G (p.Ala1728=)
c.5178C>G (p.Ala1726=)
c.5157C>G (p.Ala1719=)
c.4068C>G (p.Ala1356=)
c.5166C>G (p.Ala1722=)
n.1048C>G
 dbSNP
11g.70473226G=CA1981067955SHANK2c.3426C= (p.Ala1142=)
c.971C= (n.971C=)
c.5193C= (p.Ala1731=)
c.2702C=
c.4056C= (p.Ala1352=)
c.3483C= (p.Ala1161=)
c.3429C= (p.Ala1143=)
c.*197C= (n.*197C=)
c.3405C= (p.Ala1135=)
c.969C=
c.3030C= (p.Ala1010=)
n.1945C=
n.1047C=
c.5163C= (p.Ala1721=)
c.5205C= (p.Ala1735=)
c.5184C= (p.Ala1728=)
c.5178C= (p.Ala1726=)
c.5157C= (p.Ala1719=)
c.4068C= (p.Ala1356=)
c.5166C= (p.Ala1722=)
n.1048C=
11g.70473226G>TCA475470638SHANK2c.3426C>A (p.Ala1142=)
c.971C>A (n.971C>A)
c.5193C>A (p.Ala1731=)
c.2702C>A
c.4056C>A (p.Ala1352=)
c.3483C>A (p.Ala1161=)
c.3429C>A (p.Ala1143=)
c.*197C>A (n.*197C>A)
c.3405C>A (p.Ala1135=)
c.969C>A
c.3030C>A (p.Ala1010=)
n.1945C>A
n.1047C>A
c.5163C>A (p.Ala1721=)
c.5205C>A (p.Ala1735=)
c.5184C>A (p.Ala1728=)
c.5178C>A (p.Ala1726=)
c.5157C>A (p.Ala1719=)
c.4068C>A (p.Ala1356=)
c.5166C>A (p.Ala1722=)
n.1048C>A
11g.70473227G>ACA381676208SHANK2c.3425C>T (p.Ala1142Val)
c.970C>T (n.970C>T)
c.5192C>T (p.Ala1731Val)
c.2701C>T
c.4055C>T (p.Ala1352Val)
c.3482C>T (p.Ala1161Val)
c.3428C>T (p.Ala1143Val)
c.*196C>T (n.*196C>T)
c.3404C>T (p.Ala1135Val)
c.968C>T
c.3029C>T (p.Ala1010Val)
n.1944C>T
n.1046C>T
c.5162C>T (p.Ala1721Val)
c.5204C>T (p.Ala1735Val)
c.5183C>T (p.Ala1728Val)
c.5177C>T (p.Ala1726Val)
c.5156C>T (p.Ala1719Val)
c.4067C>T (p.Ala1356Val)
c.5165C>T (p.Ala1722Val)
n.1047C>T
11g.70473227G>CCA381676209SHANK2c.3425C>G (p.Ala1142Gly)
c.970C>G (n.970C>G)
c.5192C>G (p.Ala1731Gly)
c.2701C>G
c.4055C>G (p.Ala1352Gly)
c.3482C>G (p.Ala1161Gly)
c.3428C>G (p.Ala1143Gly)
c.*196C>G (n.*196C>G)
c.3404C>G (p.Ala1135Gly)
c.968C>G
c.3029C>G (p.Ala1010Gly)
n.1944C>G
n.1046C>G
c.5162C>G (p.Ala1721Gly)
c.5204C>G (p.Ala1735Gly)
c.5183C>G (p.Ala1728Gly)
c.5177C>G (p.Ala1726Gly)
c.5156C>G (p.Ala1719Gly)
c.4067C>G (p.Ala1356Gly)
c.5165C>G (p.Ala1722Gly)
n.1047C>G
11g.70473227G>TCA381676210SHANK2c.3425C>A (p.Ala1142Asp)
c.970C>A (n.970C>A)
c.5192C>A (p.Ala1731Asp)
c.2701C>A
c.4055C>A (p.Ala1352Asp)
c.3482C>A (p.Ala1161Asp)
c.3428C>A (p.Ala1143Asp)
c.*196C>A (n.*196C>A)
c.3404C>A (p.Ala1135Asp)
c.968C>A
c.3029C>A (p.Ala1010Asp)
n.1944C>A
n.1046C>A
c.5162C>A (p.Ala1721Asp)
c.5204C>A (p.Ala1735Asp)
c.5183C>A (p.Ala1728Asp)
c.5177C>A (p.Ala1726Asp)
c.5156C>A (p.Ala1719Asp)
c.4067C>A (p.Ala1356Asp)
c.5165C>A (p.Ala1722Asp)
n.1047C>A
11g.70473228C>ACA381676211SHANK2c.3424G>T (p.Ala1142Ser)
c.969G>T (n.969G>T)
c.5191G>T (p.Ala1731Ser)
c.2700G>T
c.4054G>T (p.Ala1352Ser)
c.3481G>T (p.Ala1161Ser)
c.3427G>T (p.Ala1143Ser)
c.*195G>T (n.*195G>T)
c.3403G>T (p.Ala1135Ser)
c.967G>T
c.3028G>T (p.Ala1010Ser)
n.1943G>T
n.1045G>T
c.5161G>T (p.Ala1721Ser)
c.5203G>T (p.Ala1735Ser)
c.5182G>T (p.Ala1728Ser)
c.5176G>T (p.Ala1726Ser)
c.5155G>T (p.Ala1719Ser)
c.4066G>T (p.Ala1356Ser)
c.5164G>T (p.Ala1722Ser)
n.1046G>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473228C=CA1981067956SHANK2c.3424G= (p.Ala1142=)
c.969G= (n.969G=)
c.5191G= (p.Ala1731=)
c.2700G=
c.4054G= (p.Ala1352=)
c.3481G= (p.Ala1161=)
c.3427G= (p.Ala1143=)
c.*195G= (n.*195G=)
c.3403G= (p.Ala1135=)
c.967G=
c.3028G= (p.Ala1010=)
n.1943G=
n.1045G=
c.5161G= (p.Ala1721=)
c.5203G= (p.Ala1735=)
c.5182G= (p.Ala1728=)
c.5176G= (p.Ala1726=)
c.5155G= (p.Ala1719=)
c.4066G= (p.Ala1356=)
c.5164G= (p.Ala1722=)
n.1046G=
11g.70473228C>GCA381676212SHANK2c.3424G>C (p.Ala1142Pro)
c.969G>C (n.969G>C)
c.5191G>C (p.Ala1731Pro)
c.2700G>C
c.4054G>C (p.Ala1352Pro)
c.3481G>C (p.Ala1161Pro)
c.3427G>C (p.Ala1143Pro)
c.*195G>C (n.*195G>C)
c.3403G>C (p.Ala1135Pro)
c.967G>C
c.3028G>C (p.Ala1010Pro)
n.1943G>C
n.1045G>C
c.5161G>C (p.Ala1721Pro)
c.5203G>C (p.Ala1735Pro)
c.5182G>C (p.Ala1728Pro)
c.5176G>C (p.Ala1726Pro)
c.5155G>C (p.Ala1719Pro)
c.4066G>C (p.Ala1356Pro)
c.5164G>C (p.Ala1722Pro)
n.1046G>C
11g.70473228C>TCA223591804SHANK2c.3424G>A (p.Ala1142Thr)
c.969G>A (n.969G>A)
c.5191G>A (p.Ala1731Thr)
c.2700G>A
c.4054G>A (p.Ala1352Thr)
c.3481G>A (p.Ala1161Thr)
c.3427G>A (p.Ala1143Thr)
c.*195G>A (n.*195G>A)
c.3403G>A (p.Ala1135Thr)
c.967G>A
c.3028G>A (p.Ala1010Thr)
n.1943G>A
n.1045G>A
c.5161G>A (p.Ala1721Thr)
c.5203G>A (p.Ala1735Thr)
c.5182G>A (p.Ala1728Thr)
c.5176G>A (p.Ala1726Thr)
c.5155G>A (p.Ala1719Thr)
c.4066G>A (p.Ala1356Thr)
c.5164G>A (p.Ala1722Thr)
n.1046G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473229G>ACA6160749SHANK2c.3423C>T (p.Thr1141=)
c.968C>T (n.968C>T)
c.5190C>T (p.Thr1730=)
c.2699C>T
c.4053C>T (p.Thr1351=)
c.3480C>T (p.Thr1160=)
c.3426C>T (p.Thr1142=)
c.*194C>T (n.*194C>T)
c.3402C>T (p.Thr1134=)
c.966C>T
c.3027C>T (p.Thr1009=)
n.1942C>T
n.1044C>T
c.5160C>T (p.Thr1720=)
c.5202C>T (p.Thr1734=)
c.5181C>T (p.Thr1727=)
c.5175C>T (p.Thr1725=)
c.5154C>T (p.Thr1718=)
c.4065C>T (p.Thr1355=)
c.5163C>T (p.Thr1721=)
n.1045C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473229G>CCA475470642SHANK2c.3423C>G (p.Thr1141=)
c.968C>G (n.968C>G)
c.5190C>G (p.Thr1730=)
c.2699C>G
c.4053C>G (p.Thr1351=)
c.3480C>G (p.Thr1160=)
c.3426C>G (p.Thr1142=)
c.*194C>G (n.*194C>G)
c.3402C>G (p.Thr1134=)
c.966C>G
c.3027C>G (p.Thr1009=)
n.1942C>G
n.1044C>G
c.5160C>G (p.Thr1720=)
c.5202C>G (p.Thr1734=)
c.5181C>G (p.Thr1727=)
c.5175C>G (p.Thr1725=)
c.5154C>G (p.Thr1718=)
c.4065C>G (p.Thr1355=)
c.5163C>G (p.Thr1721=)
n.1045C>G
 gnomAD v4
11g.70473229G=CA1981067957SHANK2c.3423C= (p.Thr1141=)
c.968C= (n.968C=)
c.5190C= (p.Thr1730=)
c.2699C=
c.4053C= (p.Thr1351=)
c.3480C= (p.Thr1160=)
c.3426C= (p.Thr1142=)
c.*194C= (n.*194C=)
c.3402C= (p.Thr1134=)
c.966C=
c.3027C= (p.Thr1009=)
n.1942C=
n.1044C=
c.5160C= (p.Thr1720=)
c.5202C= (p.Thr1734=)
c.5181C= (p.Thr1727=)
c.5175C= (p.Thr1725=)
c.5154C= (p.Thr1718=)
c.4065C= (p.Thr1355=)
c.5163C= (p.Thr1721=)
n.1045C=
11g.70473229G>TCA475470643SHANK2c.3423C>A (p.Thr1141=)
c.968C>A (n.968C>A)
c.5190C>A (p.Thr1730=)
c.2699C>A
c.4053C>A (p.Thr1351=)
c.3480C>A (p.Thr1160=)
c.3426C>A (p.Thr1142=)
c.*194C>A (n.*194C>A)
c.3402C>A (p.Thr1134=)
c.966C>A
c.3027C>A (p.Thr1009=)
n.1942C>A
n.1044C>A
c.5160C>A (p.Thr1720=)
c.5202C>A (p.Thr1734=)
c.5181C>A (p.Thr1727=)
c.5175C>A (p.Thr1725=)
c.5154C>A (p.Thr1718=)
c.4065C>A (p.Thr1355=)
c.5163C>A (p.Thr1721=)
n.1045C>A
11g.70473230G>ACA381676215SHANK2c.3422C>T (p.Thr1141Ile)
c.967C>T (n.967C>T)
c.5189C>T (p.Thr1730Ile)
c.2698C>T
c.4052C>T (p.Thr1351Ile)
c.3479C>T (p.Thr1160Ile)
c.3425C>T (p.Thr1142Ile)
c.*193C>T (n.*193C>T)
c.3401C>T (p.Thr1134Ile)
c.965C>T
c.3026C>T (p.Thr1009Ile)
n.1941C>T
n.1043C>T
c.5159C>T (p.Thr1720Ile)
c.5201C>T (p.Thr1734Ile)
c.5180C>T (p.Thr1727Ile)
c.5174C>T (p.Thr1725Ile)
c.5153C>T (p.Thr1718Ile)
c.4064C>T (p.Thr1355Ile)
c.5162C>T (p.Thr1721Ile)
n.1044C>T
11g.70473230G>CCA381676214SHANK2c.3422C>G (p.Thr1141Ser)
c.967C>G (n.967C>G)
c.5189C>G (p.Thr1730Ser)
c.2698C>G
c.4052C>G (p.Thr1351Ser)
c.3479C>G (p.Thr1160Ser)
c.3425C>G (p.Thr1142Ser)
c.*193C>G (n.*193C>G)
c.3401C>G (p.Thr1134Ser)
c.965C>G
c.3026C>G (p.Thr1009Ser)
n.1941C>G
n.1043C>G
c.5159C>G (p.Thr1720Ser)
c.5201C>G (p.Thr1734Ser)
c.5180C>G (p.Thr1727Ser)
c.5174C>G (p.Thr1725Ser)
c.5153C>G (p.Thr1718Ser)
c.4064C>G (p.Thr1355Ser)
c.5162C>G (p.Thr1721Ser)
n.1044C>G
11g.70473230G>TCA381676213SHANK2c.3422C>A (p.Thr1141Asn)
c.967C>A (n.967C>A)
c.5189C>A (p.Thr1730Asn)
c.2698C>A
c.4052C>A (p.Thr1351Asn)
c.3479C>A (p.Thr1160Asn)
c.3425C>A (p.Thr1142Asn)
c.*193C>A (n.*193C>A)
c.3401C>A (p.Thr1134Asn)
c.965C>A
c.3026C>A (p.Thr1009Asn)
n.1941C>A
n.1043C>A
c.5159C>A (p.Thr1720Asn)
c.5201C>A (p.Thr1734Asn)
c.5180C>A (p.Thr1727Asn)
c.5174C>A (p.Thr1725Asn)
c.5153C>A (p.Thr1718Asn)
c.4064C>A (p.Thr1355Asn)
c.5162C>A (p.Thr1721Asn)
n.1044C>A
11g.70473230_70473242delinsGTGGCAGCAGACACA1981067958SHANK2c.3410_3422delinsTGTCTGCTGCCAC (p.Leu1137=)
c.955_967delinsTGTCTGCTGCCAC (n.955_967delinsTGTCTGCTGCCAC)
c.5177_5189delinsTGTCTGCTGCCAC (p.Leu1726=)
c.2686_2698delinsTGTCTGCTGCCAC
c.4040_4052delinsTGTCTGCTGCCAC (p.Leu1347=)
c.3467_3479delinsTGTCTGCTGCCAC (p.Leu1156=)
c.3413_3425delinsTGTCTGCTGCCAC (p.Leu1138=)
c.*181_*193delinsTGTCTGCTGCCAC (n.*181_*193delinsTGTCTGCTGCCAC)
c.3389_3401delinsTGTCTGCTGCCAC (p.Leu1130=)
c.953_965delinsTGTCTGCTGCCAC
c.3014_3026delinsTGTCTGCTGCCAC (p.Leu1005=)
n.1929_1941delinsTGTCTGCTGCCAC
n.1031_1043delinsTGTCTGCTGCCAC
c.5147_5159delinsTGTCTGCTGCCAC (p.Leu1716=)
c.5189_5201delinsTGTCTGCTGCCAC (p.Leu1730=)
c.5168_5180delinsTGTCTGCTGCCAC (p.Leu1723=)
c.5162_5174delinsTGTCTGCTGCCAC (p.Leu1721=)
c.5141_5153delinsTGTCTGCTGCCAC (p.Leu1714=)
c.4052_4064delinsTGTCTGCTGCCAC (p.Leu1351=)
c.5150_5162delinsTGTCTGCTGCCAC (p.Leu1717=)
n.1032_1044delinsTGTCTGCTGCCAC
11g.70473231T>ACA381676216SHANK2c.3421A>T (p.Thr1141Ser)
c.966A>T (n.966A>T)
c.5188A>T (p.Thr1730Ser)
c.2697A>T
c.4051A>T (p.Thr1351Ser)
c.3478A>T (p.Thr1160Ser)
c.3424A>T (p.Thr1142Ser)
c.*192A>T (n.*192A>T)
c.3400A>T (p.Thr1134Ser)
c.964A>T
c.3025A>T (p.Thr1009Ser)
n.1940A>T
n.1042A>T
c.5158A>T (p.Thr1720Ser)
c.5200A>T (p.Thr1734Ser)
c.5179A>T (p.Thr1727Ser)
c.5173A>T (p.Thr1725Ser)
c.5152A>T (p.Thr1718Ser)
c.4063A>T (p.Thr1355Ser)
c.5161A>T (p.Thr1721Ser)
n.1043A>T
11g.70473231T>CCA381676217SHANK2c.3421A>G (p.Thr1141Ala)
c.966A>G (n.966A>G)
c.5188A>G (p.Thr1730Ala)
c.2697A>G
c.4051A>G (p.Thr1351Ala)
c.3478A>G (p.Thr1160Ala)
c.3424A>G (p.Thr1142Ala)
c.*192A>G (n.*192A>G)
c.3400A>G (p.Thr1134Ala)
c.964A>G
c.3025A>G (p.Thr1009Ala)
n.1940A>G
n.1042A>G
c.5158A>G (p.Thr1720Ala)
c.5200A>G (p.Thr1734Ala)
c.5179A>G (p.Thr1727Ala)
c.5173A>G (p.Thr1725Ala)
c.5152A>G (p.Thr1718Ala)
c.4063A>G (p.Thr1355Ala)
c.5161A>G (p.Thr1721Ala)
n.1043A>G
11g.70473231T>GCA381676218SHANK2c.3421A>C (p.Thr1141Pro)
c.966A>C (n.966A>C)
c.5188A>C (p.Thr1730Pro)
c.2697A>C
c.4051A>C (p.Thr1351Pro)
c.3478A>C (p.Thr1160Pro)
c.3424A>C (p.Thr1142Pro)
c.*192A>C (n.*192A>C)
c.3400A>C (p.Thr1134Pro)
c.964A>C
c.3025A>C (p.Thr1009Pro)
n.1940A>C
n.1042A>C
c.5158A>C (p.Thr1720Pro)
c.5200A>C (p.Thr1734Pro)
c.5179A>C (p.Thr1727Pro)
c.5173A>C (p.Thr1725Pro)
c.5152A>C (p.Thr1718Pro)
c.4063A>C (p.Thr1355Pro)
c.5161A>C (p.Thr1721Pro)
n.1043A>C
11g.70473231_70473242delCA223591809SHANK2c.3410_3421del (p.Leu1137_Thr1141delinsPro)
c.955_966del (n.955_966del)
c.5177_5188del (p.Leu1726_Thr1730delinsPro)
c.2686_2697del
c.4040_4051del (p.Leu1347_Thr1351delinsPro)
c.3467_3478del (p.Leu1156_Thr1160delinsPro)
c.3413_3424del (p.Leu1138_Thr1142delinsPro)
c.*181_*192del (n.*181_*192del)
c.3389_3400del (p.Leu1130_Thr1134delinsPro)
c.953_964del
c.3014_3025del (p.Leu1005_Thr1009delinsPro)
n.1929_1940del
n.1031_1042del
c.5147_5158del (p.Leu1716_Thr1720delinsPro)
c.5189_5200del (p.Leu1730_Thr1734delinsPro)
c.5168_5179del (p.Leu1723_Thr1727delinsPro)
c.5162_5173del (p.Leu1721_Thr1725delinsPro)
c.5141_5152del (p.Leu1714_Thr1718delinsPro)
c.4052_4063del (p.Leu1351_Thr1355delinsPro)
c.5150_5161del (p.Leu1717_Thr1721delinsPro)
n.1032_1043del
 dbSNP
11g.70473232G>ACA475470648SHANK2c.3420C>T (p.Ala1140=)
c.965C>T (n.965C>T)
c.5187C>T (p.Ala1729=)
c.2696C>T
c.4050C>T (p.Ala1350=)
c.3477C>T (p.Ala1159=)
c.3423C>T (p.Ala1141=)
c.*191C>T (n.*191C>T)
c.3399C>T (p.Ala1133=)
c.963C>T
c.3024C>T (p.Ala1008=)
n.1939C>T
n.1041C>T
c.5157C>T (p.Ala1719=)
c.5199C>T (p.Ala1733=)
c.5178C>T (p.Ala1726=)
c.5172C>T (p.Ala1724=)
c.5151C>T (p.Ala1717=)
c.4062C>T (p.Ala1354=)
c.5160C>T (p.Ala1720=)
n.1042C>T
 dbSNP COSMIC COSMIC COSMIC
11g.70473232G>CCA475470649SHANK2c.3420C>G (p.Ala1140=)
c.965C>G (n.965C>G)
c.5187C>G (p.Ala1729=)
c.2696C>G
c.4050C>G (p.Ala1350=)
c.3477C>G (p.Ala1159=)
c.3423C>G (p.Ala1141=)
c.*191C>G (n.*191C>G)
c.3399C>G (p.Ala1133=)
c.963C>G
c.3024C>G (p.Ala1008=)
n.1939C>G
n.1041C>G
c.5157C>G (p.Ala1719=)
c.5199C>G (p.Ala1733=)
c.5178C>G (p.Ala1726=)
c.5172C>G (p.Ala1724=)
c.5151C>G (p.Ala1717=)
c.4062C>G (p.Ala1354=)
c.5160C>G (p.Ala1720=)
n.1042C>G
11g.70473232G>TCA475470650SHANK2c.3420C>A (p.Ala1140=)
c.965C>A (n.965C>A)
c.5187C>A (p.Ala1729=)
c.2696C>A
c.4050C>A (p.Ala1350=)
c.3477C>A (p.Ala1159=)
c.3423C>A (p.Ala1141=)
c.*191C>A (n.*191C>A)
c.3399C>A (p.Ala1133=)
c.963C>A
c.3024C>A (p.Ala1008=)
n.1939C>A
n.1041C>A
c.5157C>A (p.Ala1719=)
c.5199C>A (p.Ala1733=)
c.5178C>A (p.Ala1726=)
c.5172C>A (p.Ala1724=)
c.5151C>A (p.Ala1717=)
c.4062C>A (p.Ala1354=)
c.5160C>A (p.Ala1720=)
n.1042C>A
11g.70473233G>ACA381676219SHANK2c.3419C>T (p.Ala1140Val)
c.964C>T (n.964C>T)
c.5186C>T (p.Ala1729Val)
c.2695C>T
c.4049C>T (p.Ala1350Val)
c.3476C>T (p.Ala1159Val)
c.3422C>T (p.Ala1141Val)
c.*190C>T (n.*190C>T)
c.3398C>T (p.Ala1133Val)
c.962C>T
c.3023C>T (p.Ala1008Val)
n.1938C>T
n.1040C>T
c.5156C>T (p.Ala1719Val)
c.5198C>T (p.Ala1733Val)
c.5177C>T (p.Ala1726Val)
c.5171C>T (p.Ala1724Val)
c.5150C>T (p.Ala1717Val)
c.4061C>T (p.Ala1354Val)
c.5159C>T (p.Ala1720Val)
n.1041C>T
 dbSNP
11g.70473233G>CCA381676220SHANK2c.3419C>G (p.Ala1140Gly)
c.964C>G (n.964C>G)
c.5186C>G (p.Ala1729Gly)
c.2695C>G
c.4049C>G (p.Ala1350Gly)
c.3476C>G (p.Ala1159Gly)
c.3422C>G (p.Ala1141Gly)
c.*190C>G (n.*190C>G)
c.3398C>G (p.Ala1133Gly)
c.962C>G
c.3023C>G (p.Ala1008Gly)
n.1938C>G
n.1040C>G
c.5156C>G (p.Ala1719Gly)
c.5198C>G (p.Ala1733Gly)
c.5177C>G (p.Ala1726Gly)
c.5171C>G (p.Ala1724Gly)
c.5150C>G (p.Ala1717Gly)
c.4061C>G (p.Ala1354Gly)
c.5159C>G (p.Ala1720Gly)
n.1041C>G
11g.70473233G=CA1981067960SHANK2c.3419C= (p.Ala1140=)
c.964C= (n.964C=)
c.5186C= (p.Ala1729=)
c.2695C=
c.4049C= (p.Ala1350=)
c.3476C= (p.Ala1159=)
c.3422C= (p.Ala1141=)
c.*190C= (n.*190C=)
c.3398C= (p.Ala1133=)
c.962C=
c.3023C= (p.Ala1008=)
n.1938C=
n.1040C=
c.5156C= (p.Ala1719=)
c.5198C= (p.Ala1733=)
c.5177C= (p.Ala1726=)
c.5171C= (p.Ala1724=)
c.5150C= (p.Ala1717=)
c.4061C= (p.Ala1354=)
c.5159C= (p.Ala1720=)
n.1041C=
11g.70473233G>TCA381676221SHANK2c.3419C>A (p.Ala1140Asp)
c.964C>A (n.964C>A)
c.5186C>A (p.Ala1729Asp)
c.2695C>A
c.4049C>A (p.Ala1350Asp)
c.3476C>A (p.Ala1159Asp)
c.3422C>A (p.Ala1141Asp)
c.*190C>A (n.*190C>A)
c.3398C>A (p.Ala1133Asp)
c.962C>A
c.3023C>A (p.Ala1008Asp)
n.1938C>A
n.1040C>A
c.5156C>A (p.Ala1719Asp)
c.5198C>A (p.Ala1733Asp)
c.5177C>A (p.Ala1726Asp)
c.5171C>A (p.Ala1724Asp)
c.5150C>A (p.Ala1717Asp)
c.4061C>A (p.Ala1354Asp)
c.5159C>A (p.Ala1720Asp)
n.1041C>A
11g.70473233_70473242delinsGCAGCAGACACA1981067959SHANK2c.3410_3419delinsTGTCTGCTGC (p.Leu1137=)
c.955_964delinsTGTCTGCTGC (n.955_964delinsTGTCTGCTGC)
c.5177_5186delinsTGTCTGCTGC (p.Leu1726=)
c.2686_2695delinsTGTCTGCTGC
c.4040_4049delinsTGTCTGCTGC (p.Leu1347=)
c.3467_3476delinsTGTCTGCTGC (p.Leu1156=)
c.3413_3422delinsTGTCTGCTGC (p.Leu1138=)
c.*181_*190delinsTGTCTGCTGC (n.*181_*190delinsTGTCTGCTGC)
c.3389_3398delinsTGTCTGCTGC (p.Leu1130=)
c.953_962delinsTGTCTGCTGC
c.3014_3023delinsTGTCTGCTGC (p.Leu1005=)
n.1929_1938delinsTGTCTGCTGC
n.1031_1040delinsTGTCTGCTGC
c.5147_5156delinsTGTCTGCTGC (p.Leu1716=)
c.5189_5198delinsTGTCTGCTGC (p.Leu1730=)
c.5168_5177delinsTGTCTGCTGC (p.Leu1723=)
c.5162_5171delinsTGTCTGCTGC (p.Leu1721=)
c.5141_5150delinsTGTCTGCTGC (p.Leu1714=)
c.4052_4061delinsTGTCTGCTGC (p.Leu1351=)
c.5150_5159delinsTGTCTGCTGC (p.Leu1717=)
n.1032_1041delinsTGTCTGCTGC
11g.70473234C>ACA381676222SHANK2c.3418G>T (p.Ala1140Ser)
c.963G>T (n.963G>T)
c.5185G>T (p.Ala1729Ser)
c.2694G>T
c.4048G>T (p.Ala1350Ser)
c.3475G>T (p.Ala1159Ser)
c.3421G>T (p.Ala1141Ser)
c.*189G>T (n.*189G>T)
c.3397G>T (p.Ala1133Ser)
c.961G>T
c.3022G>T (p.Ala1008Ser)
n.1937G>T
n.1039G>T
c.5155G>T (p.Ala1719Ser)
c.5197G>T (p.Ala1733Ser)
c.5176G>T (p.Ala1726Ser)
c.5170G>T (p.Ala1724Ser)
c.5149G>T (p.Ala1717Ser)
c.4060G>T (p.Ala1354Ser)
c.5158G>T (p.Ala1720Ser)
n.1040G>T
11g.70473234C=CA1981067961SHANK2c.3418G= (p.Ala1140=)
c.963G= (n.963G=)
c.5185G= (p.Ala1729=)
c.2694G=
c.4048G= (p.Ala1350=)
c.3475G= (p.Ala1159=)
c.3421G= (p.Ala1141=)
c.*189G= (n.*189G=)
c.3397G= (p.Ala1133=)
c.961G=
c.3022G= (p.Ala1008=)
n.1937G=
n.1039G=
c.5155G= (p.Ala1719=)
c.5197G= (p.Ala1733=)
c.5176G= (p.Ala1726=)
c.5170G= (p.Ala1724=)
c.5149G= (p.Ala1717=)
c.4060G= (p.Ala1354=)
c.5158G= (p.Ala1720=)
n.1040G=
11g.70473234C>GCA381676223SHANK2c.3418G>C (p.Ala1140Pro)
c.963G>C (n.963G>C)
c.5185G>C (p.Ala1729Pro)
c.2694G>C
c.4048G>C (p.Ala1350Pro)
c.3475G>C (p.Ala1159Pro)
c.3421G>C (p.Ala1141Pro)
c.*189G>C (n.*189G>C)
c.3397G>C (p.Ala1133Pro)
c.961G>C
c.3022G>C (p.Ala1008Pro)
n.1937G>C
n.1039G>C
c.5155G>C (p.Ala1719Pro)
c.5197G>C (p.Ala1733Pro)
c.5176G>C (p.Ala1726Pro)
c.5170G>C (p.Ala1724Pro)
c.5149G>C (p.Ala1717Pro)
c.4060G>C (p.Ala1354Pro)
c.5158G>C (p.Ala1720Pro)
n.1040G>C
 dbSNP
11g.70473234C>TCA6160750SHANK2c.3418G>A (p.Ala1140Thr)
c.963G>A (n.963G>A)
c.5185G>A (p.Ala1729Thr)
c.2694G>A
c.4048G>A (p.Ala1350Thr)
c.3475G>A (p.Ala1159Thr)
c.3421G>A (p.Ala1141Thr)
c.*189G>A (n.*189G>A)
c.3397G>A (p.Ala1133Thr)
c.961G>A
c.3022G>A (p.Ala1008Thr)
n.1937G>A
n.1039G>A
c.5155G>A (p.Ala1719Thr)
c.5197G>A (p.Ala1733Thr)
c.5176G>A (p.Ala1726Thr)
c.5170G>A (p.Ala1724Thr)
c.5149G>A (p.Ala1717Thr)
c.4060G>A (p.Ala1354Thr)
c.5158G>A (p.Ala1720Thr)
n.1040G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473234_70473242delCA223591812SHANK2c.3410_3418del (p.Leu1137_Ala1140delinsPro)
c.955_963del (n.955_963del)
c.5177_5185del (p.Leu1726_Ala1729delinsPro)
c.2686_2694del
c.4040_4048del (p.Leu1347_Ala1350delinsPro)
c.3467_3475del (p.Leu1156_Ala1159delinsPro)
c.3413_3421del (p.Leu1138_Ala1141delinsPro)
c.*181_*189del (n.*181_*189del)
c.3389_3397del (p.Leu1130_Ala1133delinsPro)
c.953_961del
c.3014_3022del (p.Leu1005_Ala1008delinsPro)
n.1929_1937del
n.1031_1039del
c.5147_5155del (p.Leu1716_Ala1719delinsPro)
c.5189_5197del (p.Leu1730_Ala1733delinsPro)
c.5168_5176del (p.Leu1723_Ala1726delinsPro)
c.5162_5170del (p.Leu1721_Ala1724delinsPro)
c.5141_5149del (p.Leu1714_Ala1717delinsPro)
c.4052_4060del (p.Leu1351_Ala1354delinsPro)
c.5150_5158del (p.Leu1717_Ala1720delinsPro)
n.1032_1040del
 dbSNP
11g.70473235A>CCA475470654SHANK2c.3417T>G (p.Ala1139=)
c.962T>G (n.962T>G)
c.5184T>G (p.Ala1728=)
c.2693T>G
c.4047T>G (p.Ala1349=)
c.3474T>G (p.Ala1158=)
c.3420T>G (p.Ala1140=)
c.*188T>G (n.*188T>G)
c.3396T>G (p.Ala1132=)
c.960T>G
c.3021T>G (p.Ala1007=)
n.1936T>G
n.1038T>G
c.5154T>G (p.Ala1718=)
c.5196T>G (p.Ala1732=)
c.5175T>G (p.Ala1725=)
c.5169T>G (p.Ala1723=)
c.5148T>G (p.Ala1716=)
c.4059T>G (p.Ala1353=)
c.5157T>G (p.Ala1719=)
n.1039T>G
11g.70473235A>GCA475470653SHANK2c.3417T>C (p.Ala1139=)
c.962T>C (n.962T>C)
c.5184T>C (p.Ala1728=)
c.2693T>C
c.4047T>C (p.Ala1349=)
c.3474T>C (p.Ala1158=)
c.3420T>C (p.Ala1140=)
c.*188T>C (n.*188T>C)
c.3396T>C (p.Ala1132=)
c.960T>C
c.3021T>C (p.Ala1007=)
n.1936T>C
n.1038T>C
c.5154T>C (p.Ala1718=)
c.5196T>C (p.Ala1732=)
c.5175T>C (p.Ala1725=)
c.5169T>C (p.Ala1723=)
c.5148T>C (p.Ala1716=)
c.4059T>C (p.Ala1353=)
c.5157T>C (p.Ala1719=)
n.1039T>C
11g.70473235A>TCA475470652SHANK2c.3417T>A (p.Ala1139=)
c.962T>A (n.962T>A)
c.5184T>A (p.Ala1728=)
c.2693T>A
c.4047T>A (p.Ala1349=)
c.3474T>A (p.Ala1158=)
c.3420T>A (p.Ala1140=)
c.*188T>A (n.*188T>A)
c.3396T>A (p.Ala1132=)
c.960T>A
c.3021T>A (p.Ala1007=)
n.1936T>A
n.1038T>A
c.5154T>A (p.Ala1718=)
c.5196T>A (p.Ala1732=)
c.5175T>A (p.Ala1725=)
c.5169T>A (p.Ala1723=)
c.5148T>A (p.Ala1716=)
c.4059T>A (p.Ala1353=)
c.5157T>A (p.Ala1719=)
n.1039T>A
11g.70473236G>ACA381676224SHANK2c.3416C>T (p.Ala1139Val)
c.961C>T (n.961C>T)
c.5183C>T (p.Ala1728Val)
c.2692C>T
c.4046C>T (p.Ala1349Val)
c.3473C>T (p.Ala1158Val)
c.3419C>T (p.Ala1140Val)
c.*187C>T (n.*187C>T)
c.3395C>T (p.Ala1132Val)
c.959C>T
c.3020C>T (p.Ala1007Val)
n.1935C>T
n.1037C>T
c.5153C>T (p.Ala1718Val)
c.5195C>T (p.Ala1732Val)
c.5174C>T (p.Ala1725Val)
c.5168C>T (p.Ala1723Val)
c.5147C>T (p.Ala1716Val)
c.4058C>T (p.Ala1353Val)
c.5156C>T (p.Ala1719Val)
n.1038C>T
11g.70473236G>CCA381676225SHANK2c.3416C>G (p.Ala1139Gly)
c.961C>G (n.961C>G)
c.5183C>G (p.Ala1728Gly)
c.2692C>G
c.4046C>G (p.Ala1349Gly)
c.3473C>G (p.Ala1158Gly)
c.3419C>G (p.Ala1140Gly)
c.*187C>G (n.*187C>G)
c.3395C>G (p.Ala1132Gly)
c.959C>G
c.3020C>G (p.Ala1007Gly)
n.1935C>G
n.1037C>G
c.5153C>G (p.Ala1718Gly)
c.5195C>G (p.Ala1732Gly)
c.5174C>G (p.Ala1725Gly)
c.5168C>G (p.Ala1723Gly)
c.5147C>G (p.Ala1716Gly)
c.4058C>G (p.Ala1353Gly)
c.5156C>G (p.Ala1719Gly)
n.1038C>G
11g.70473236G>TCA381676226SHANK2c.3416C>A (p.Ala1139Asp)
c.961C>A (n.961C>A)
c.5183C>A (p.Ala1728Asp)
c.2692C>A
c.4046C>A (p.Ala1349Asp)
c.3473C>A (p.Ala1158Asp)
c.3419C>A (p.Ala1140Asp)
c.*187C>A (n.*187C>A)
c.3395C>A (p.Ala1132Asp)
c.959C>A
c.3020C>A (p.Ala1007Asp)
n.1935C>A
n.1037C>A
c.5153C>A (p.Ala1718Asp)
c.5195C>A (p.Ala1732Asp)
c.5174C>A (p.Ala1725Asp)
c.5168C>A (p.Ala1723Asp)
c.5147C>A (p.Ala1716Asp)
c.4058C>A (p.Ala1353Asp)
c.5156C>A (p.Ala1719Asp)
n.1038C>A
11g.70473237C>ACA381676227SHANK2c.3415G>T (p.Ala1139Ser)
c.960G>T (n.960G>T)
c.5182G>T (p.Ala1728Ser)
c.2691G>T
c.4045G>T (p.Ala1349Ser)
c.3472G>T (p.Ala1158Ser)
c.3418G>T (p.Ala1140Ser)
c.*186G>T (n.*186G>T)
c.3394G>T (p.Ala1132Ser)
c.958G>T
c.3019G>T (p.Ala1007Ser)
n.1934G>T
n.1036G>T
c.5152G>T (p.Ala1718Ser)
c.5194G>T (p.Ala1732Ser)
c.5173G>T (p.Ala1725Ser)
c.5167G>T (p.Ala1723Ser)
c.5146G>T (p.Ala1716Ser)
c.4057G>T (p.Ala1353Ser)
c.5155G>T (p.Ala1719Ser)
n.1037G>T
 gnomAD v4
11g.70473237C=CA1981067962SHANK2c.3415G= (p.Ala1139=)
c.960G= (n.960G=)
c.5182G= (p.Ala1728=)
c.2691G=
c.4045G= (p.Ala1349=)
c.3472G= (p.Ala1158=)
c.3418G= (p.Ala1140=)
c.*186G= (n.*186G=)
c.3394G= (p.Ala1132=)
c.958G=
c.3019G= (p.Ala1007=)
n.1934G=
n.1036G=
c.5152G= (p.Ala1718=)
c.5194G= (p.Ala1732=)
c.5173G= (p.Ala1725=)
c.5167G= (p.Ala1723=)
c.5146G= (p.Ala1716=)
c.4057G= (p.Ala1353=)
c.5155G= (p.Ala1719=)
n.1037G=
11g.70473237C>GCA381676228SHANK2c.3415G>C (p.Ala1139Pro)
c.960G>C (n.960G>C)
c.5182G>C (p.Ala1728Pro)
c.2691G>C
c.4045G>C (p.Ala1349Pro)
c.3472G>C (p.Ala1158Pro)
c.3418G>C (p.Ala1140Pro)
c.*186G>C (n.*186G>C)
c.3394G>C (p.Ala1132Pro)
c.958G>C
c.3019G>C (p.Ala1007Pro)
n.1934G>C
n.1036G>C
c.5152G>C (p.Ala1718Pro)
c.5194G>C (p.Ala1732Pro)
c.5173G>C (p.Ala1725Pro)
c.5167G>C (p.Ala1723Pro)
c.5146G>C (p.Ala1716Pro)
c.4057G>C (p.Ala1353Pro)
c.5155G>C (p.Ala1719Pro)
n.1037G>C
11g.70473237C>TCA6160751SHANK2c.3415G>A (p.Ala1139Thr)
c.960G>A (n.960G>A)
c.5182G>A (p.Ala1728Thr)
c.2691G>A
c.4045G>A (p.Ala1349Thr)
c.3472G>A (p.Ala1158Thr)
c.3418G>A (p.Ala1140Thr)
c.*186G>A (n.*186G>A)
c.3394G>A (p.Ala1132Thr)
c.958G>A
c.3019G>A (p.Ala1007Thr)
n.1934G>A
n.1036G>A
c.5152G>A (p.Ala1718Thr)
c.5194G>A (p.Ala1732Thr)
c.5173G>A (p.Ala1725Thr)
c.5167G>A (p.Ala1723Thr)
c.5146G>A (p.Ala1716Thr)
c.4057G>A (p.Ala1353Thr)
c.5155G>A (p.Ala1719Thr)
n.1037G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473238A>CCA475470660SHANK2c.3414T>G (p.Ser1138=)
c.959T>G (n.959T>G)
c.5181T>G (p.Ser1727=)
c.2690T>G
c.4044T>G (p.Ser1348=)
c.3471T>G (p.Ser1157=)
c.3417T>G (p.Ser1139=)
c.*185T>G (n.*185T>G)
c.3393T>G (p.Ser1131=)
c.957T>G
c.3018T>G (p.Ser1006=)
n.1933T>G
n.1035T>G
c.5151T>G (p.Ser1717=)
c.5193T>G (p.Ser1731=)
c.5172T>G (p.Ser1724=)
c.5166T>G (p.Ser1722=)
c.5145T>G (p.Ser1715=)
c.4056T>G (p.Ser1352=)
c.5154T>G (p.Ser1718=)
n.1036T>G
11g.70473238A>GCA475470659SHANK2c.3414T>C (p.Ser1138=)
c.959T>C (n.959T>C)
c.5181T>C (p.Ser1727=)
c.2690T>C
c.4044T>C (p.Ser1348=)
c.3471T>C (p.Ser1157=)
c.3417T>C (p.Ser1139=)
c.*185T>C (n.*185T>C)
c.3393T>C (p.Ser1131=)
c.957T>C
c.3018T>C (p.Ser1006=)
n.1933T>C
n.1035T>C
c.5151T>C (p.Ser1717=)
c.5193T>C (p.Ser1731=)
c.5172T>C (p.Ser1724=)
c.5166T>C (p.Ser1722=)
c.5145T>C (p.Ser1715=)
c.4056T>C (p.Ser1352=)
c.5154T>C (p.Ser1718=)
n.1036T>C
11g.70473238A>TCA475470658SHANK2c.3414T>A (p.Ser1138=)
c.959T>A (n.959T>A)
c.5181T>A (p.Ser1727=)
c.2690T>A
c.4044T>A (p.Ser1348=)
c.3471T>A (p.Ser1157=)
c.3417T>A (p.Ser1139=)
c.*185T>A (n.*185T>A)
c.3393T>A (p.Ser1131=)
c.957T>A
c.3018T>A (p.Ser1006=)
n.1933T>A
n.1035T>A
c.5151T>A (p.Ser1717=)
c.5193T>A (p.Ser1731=)
c.5172T>A (p.Ser1724=)
c.5166T>A (p.Ser1722=)
c.5145T>A (p.Ser1715=)
c.4056T>A (p.Ser1352=)
c.5154T>A (p.Ser1718=)
n.1036T>A
11g.70473239G>ACA381676229SHANK2c.3413C>T (p.Ser1138Phe)
c.958C>T (n.958C>T)
c.5180C>T (p.Ser1727Phe)
c.2689C>T
c.4043C>T (p.Ser1348Phe)
c.3470C>T (p.Ser1157Phe)
c.3416C>T (p.Ser1139Phe)
c.*184C>T (n.*184C>T)
c.3392C>T (p.Ser1131Phe)
c.956C>T
c.3017C>T (p.Ser1006Phe)
n.1932C>T
n.1034C>T
c.5150C>T (p.Ser1717Phe)
c.5192C>T (p.Ser1731Phe)
c.5171C>T (p.Ser1724Phe)
c.5165C>T (p.Ser1722Phe)
c.5144C>T (p.Ser1715Phe)
c.4055C>T (p.Ser1352Phe)
c.5153C>T (p.Ser1718Phe)
n.1035C>T
 gnomAD v4
11g.70473239G>CCA381676230SHANK2c.3413C>G (p.Ser1138Cys)
c.958C>G (n.958C>G)
c.5180C>G (p.Ser1727Cys)
c.2689C>G
c.4043C>G (p.Ser1348Cys)
c.3470C>G (p.Ser1157Cys)
c.3416C>G (p.Ser1139Cys)
c.*184C>G (n.*184C>G)
c.3392C>G (p.Ser1131Cys)
c.956C>G
c.3017C>G (p.Ser1006Cys)
n.1932C>G
n.1034C>G
c.5150C>G (p.Ser1717Cys)
c.5192C>G (p.Ser1731Cys)
c.5171C>G (p.Ser1724Cys)
c.5165C>G (p.Ser1722Cys)
c.5144C>G (p.Ser1715Cys)
c.4055C>G (p.Ser1352Cys)
c.5153C>G (p.Ser1718Cys)
n.1035C>G
11g.70473239G>TCA381676231SHANK2c.3413C>A (p.Ser1138Tyr)
c.958C>A (n.958C>A)
c.5180C>A (p.Ser1727Tyr)
c.2689C>A
c.4043C>A (p.Ser1348Tyr)
c.3470C>A (p.Ser1157Tyr)
c.3416C>A (p.Ser1139Tyr)
c.*184C>A (n.*184C>A)
c.3392C>A (p.Ser1131Tyr)
c.956C>A
c.3017C>A (p.Ser1006Tyr)
n.1932C>A
n.1034C>A
c.5150C>A (p.Ser1717Tyr)
c.5192C>A (p.Ser1731Tyr)
c.5171C>A (p.Ser1724Tyr)
c.5165C>A (p.Ser1722Tyr)
c.5144C>A (p.Ser1715Tyr)
c.4055C>A (p.Ser1352Tyr)
c.5153C>A (p.Ser1718Tyr)
n.1035C>A
 gnomAD v4
11g.70473240A>CCA381676232SHANK2c.3412T>G (p.Ser1138Ala)
c.957T>G (n.957T>G)
c.5179T>G (p.Ser1727Ala)
c.2688T>G
c.4042T>G (p.Ser1348Ala)
c.3469T>G (p.Ser1157Ala)
c.3415T>G (p.Ser1139Ala)
c.*183T>G (n.*183T>G)
c.3391T>G (p.Ser1131Ala)
c.955T>G
c.3016T>G (p.Ser1006Ala)
n.1931T>G
n.1033T>G
c.5149T>G (p.Ser1717Ala)
c.5191T>G (p.Ser1731Ala)
c.5170T>G (p.Ser1724Ala)
c.5164T>G (p.Ser1722Ala)
c.5143T>G (p.Ser1715Ala)
c.4054T>G (p.Ser1352Ala)
c.5152T>G (p.Ser1718Ala)
n.1034T>G
11g.70473240A>GCA381676233SHANK2c.3412T>C (p.Ser1138Pro)
c.957T>C (n.957T>C)
c.5179T>C (p.Ser1727Pro)
c.2688T>C
c.4042T>C (p.Ser1348Pro)
c.3469T>C (p.Ser1157Pro)
c.3415T>C (p.Ser1139Pro)
c.*183T>C (n.*183T>C)
c.3391T>C (p.Ser1131Pro)
c.955T>C
c.3016T>C (p.Ser1006Pro)
n.1931T>C
n.1033T>C
c.5149T>C (p.Ser1717Pro)
c.5191T>C (p.Ser1731Pro)
c.5170T>C (p.Ser1724Pro)
c.5164T>C (p.Ser1722Pro)
c.5143T>C (p.Ser1715Pro)
c.4054T>C (p.Ser1352Pro)
c.5152T>C (p.Ser1718Pro)
n.1034T>C
11g.70473240A>TCA381676234SHANK2c.3412T>A (p.Ser1138Thr)
c.957T>A (n.957T>A)
c.5179T>A (p.Ser1727Thr)
c.2688T>A
c.4042T>A (p.Ser1348Thr)
c.3469T>A (p.Ser1157Thr)
c.3415T>A (p.Ser1139Thr)
c.*183T>A (n.*183T>A)
c.3391T>A (p.Ser1131Thr)
c.955T>A
c.3016T>A (p.Ser1006Thr)
n.1931T>A
n.1033T>A
c.5149T>A (p.Ser1717Thr)
c.5191T>A (p.Ser1731Thr)
c.5170T>A (p.Ser1724Thr)
c.5164T>A (p.Ser1722Thr)
c.5143T>A (p.Ser1715Thr)
c.4054T>A (p.Ser1352Thr)
c.5152T>A (p.Ser1718Thr)
n.1034T>A
 gnomAD v4
11g.70473241C>ACA475470663SHANK2c.3411G>T (p.Leu1137=)
c.956G>T (n.956G>T)
c.5178G>T (p.Leu1726=)
c.2687G>T
c.4041G>T (p.Leu1347=)
c.3468G>T (p.Leu1156=)
c.3414G>T (p.Leu1138=)
c.*182G>T (n.*182G>T)
c.3390G>T (p.Leu1130=)
c.954G>T
c.3015G>T (p.Leu1005=)
n.1930G>T
n.1032G>T
c.5148G>T (p.Leu1716=)
c.5190G>T (p.Leu1730=)
c.5169G>T (p.Leu1723=)
c.5163G>T (p.Leu1721=)
c.5142G>T (p.Leu1714=)
c.4053G>T (p.Leu1351=)
c.5151G>T (p.Leu1717=)
n.1033G>T
11g.70473241C>GCA475470666SHANK2c.3411G>C (p.Leu1137=)
c.956G>C (n.956G>C)
c.5178G>C (p.Leu1726=)
c.2687G>C
c.4041G>C (p.Leu1347=)
c.3468G>C (p.Leu1156=)
c.3414G>C (p.Leu1138=)
c.*182G>C (n.*182G>C)
c.3390G>C (p.Leu1130=)
c.954G>C
c.3015G>C (p.Leu1005=)
n.1930G>C
n.1032G>C
c.5148G>C (p.Leu1716=)
c.5190G>C (p.Leu1730=)
c.5169G>C (p.Leu1723=)
c.5163G>C (p.Leu1721=)
c.5142G>C (p.Leu1714=)
c.4053G>C (p.Leu1351=)
c.5151G>C (p.Leu1717=)
n.1033G>C
11g.70473241C>TCA475470665SHANK2c.3411G>A (p.Leu1137=)
c.956G>A (n.956G>A)
c.5178G>A (p.Leu1726=)
c.2687G>A
c.4041G>A (p.Leu1347=)
c.3468G>A (p.Leu1156=)
c.3414G>A (p.Leu1138=)
c.*182G>A (n.*182G>A)
c.3390G>A (p.Leu1130=)
c.954G>A
c.3015G>A (p.Leu1005=)
n.1930G>A
n.1032G>A
c.5148G>A (p.Leu1716=)
c.5190G>A (p.Leu1730=)
c.5169G>A (p.Leu1723=)
c.5163G>A (p.Leu1721=)
c.5142G>A (p.Leu1714=)
c.4053G>A (p.Leu1351=)
c.5151G>A (p.Leu1717=)
n.1033G>A
11g.70473242A=CA1981067963SHANK2c.3410T= (p.Leu1137=)
c.955T= (n.955T=)
c.5177T= (p.Leu1726=)
c.2686T=
c.4040T= (p.Leu1347=)
c.3467T= (p.Leu1156=)
c.3413T= (p.Leu1138=)
c.*181T= (n.*181T=)
c.3389T= (p.Leu1130=)
c.953T=
c.3014T= (p.Leu1005=)
n.1929T=
n.1031T=
c.5147T= (p.Leu1716=)
c.5189T= (p.Leu1730=)
c.5168T= (p.Leu1723=)
c.5162T= (p.Leu1721=)
c.5141T= (p.Leu1714=)
c.4052T= (p.Leu1351=)
c.5150T= (p.Leu1717=)
n.1032T=
11g.70473242A>CCA381676235SHANK2c.3410T>G (p.Leu1137Arg)
c.955T>G (n.955T>G)
c.5177T>G (p.Leu1726Arg)
c.2686T>G
c.4040T>G (p.Leu1347Arg)
c.3467T>G (p.Leu1156Arg)
c.3413T>G (p.Leu1138Arg)
c.*181T>G (n.*181T>G)
c.3389T>G (p.Leu1130Arg)
c.953T>G
c.3014T>G (p.Leu1005Arg)
n.1929T>G
n.1031T>G
c.5147T>G (p.Leu1716Arg)
c.5189T>G (p.Leu1730Arg)
c.5168T>G (p.Leu1723Arg)
c.5162T>G (p.Leu1721Arg)
c.5141T>G (p.Leu1714Arg)
c.4052T>G (p.Leu1351Arg)
c.5150T>G (p.Leu1717Arg)
n.1032T>G
11g.70473242A>GCA381676236SHANK2c.3410T>C (p.Leu1137Pro)
c.955T>C (n.955T>C)
c.5177T>C (p.Leu1726Pro)
c.2686T>C
c.4040T>C (p.Leu1347Pro)
c.3467T>C (p.Leu1156Pro)
c.3413T>C (p.Leu1138Pro)
c.*181T>C (n.*181T>C)
c.3389T>C (p.Leu1130Pro)
c.953T>C
c.3014T>C (p.Leu1005Pro)
n.1929T>C
n.1031T>C
c.5147T>C (p.Leu1716Pro)
c.5189T>C (p.Leu1730Pro)
c.5168T>C (p.Leu1723Pro)
c.5162T>C (p.Leu1721Pro)
c.5141T>C (p.Leu1714Pro)
c.4052T>C (p.Leu1351Pro)
c.5150T>C (p.Leu1717Pro)
n.1032T>C
 dbSNP
11g.70473242A>TCA381676237SHANK2c.3410T>A (p.Leu1137Gln)
c.955T>A (n.955T>A)
c.5177T>A (p.Leu1726Gln)
c.2686T>A
c.4040T>A (p.Leu1347Gln)
c.3467T>A (p.Leu1156Gln)
c.3413T>A (p.Leu1138Gln)
c.*181T>A (n.*181T>A)
c.3389T>A (p.Leu1130Gln)
c.953T>A
c.3014T>A (p.Leu1005Gln)
n.1929T>A
n.1031T>A
c.5147T>A (p.Leu1716Gln)
c.5189T>A (p.Leu1730Gln)
c.5168T>A (p.Leu1723Gln)
c.5162T>A (p.Leu1721Gln)
c.5141T>A (p.Leu1714Gln)
c.4052T>A (p.Leu1351Gln)
c.5150T>A (p.Leu1717Gln)
n.1032T>A
 dbSNP
11g.70473242_70473243delCA2574908643SHANK2c.3409_3410del (p.Leu1137ValfsTer16)
c.954_955del (n.954_955del)
c.5176_5177del (p.Leu1726ValfsTer16)
c.2685_2686del
c.4039_4040del (p.Leu1347ValfsTer16)
c.3466_3467del (p.Leu1156ValfsTer16)
c.3412_3413del (p.Leu1138ValfsTer16)
c.*180_*181del (n.*180_*181del)
c.3388_3389del (p.Leu1130ValfsTer16)
c.952_953del
c.3013_3014del (p.Leu1005ValfsTer16)
n.1928_1929del
n.1030_1031del
c.5146_5147del (p.Leu1716ValfsTer16)
c.5188_5189del (p.Leu1730ValfsTer16)
c.5167_5168del (p.Leu1723ValfsTer16)
c.5161_5162del (p.Leu1721ValfsTer16)
c.5140_5141del (p.Leu1714ValfsTer16)
c.4051_4052del (p.Leu1351ValfsTer16)
c.5149_5150del (p.Leu1717ValfsTer16)
n.1031_1032del
 ClinVar
11g.70473243G>ACA475470667SHANK2c.3409C>T (p.Leu1137=)
c.954C>T (n.954C>T)
c.5176C>T (p.Leu1726=)
c.2685C>T
c.4039C>T (p.Leu1347=)
c.3466C>T (p.Leu1156=)
c.3412C>T (p.Leu1138=)
c.*180C>T (n.*180C>T)
c.3388C>T (p.Leu1130=)
c.952C>T
c.3013C>T (p.Leu1005=)
n.1928C>T
n.1030C>T
c.5146C>T (p.Leu1716=)
c.5188C>T (p.Leu1730=)
c.5167C>T (p.Leu1723=)
c.5161C>T (p.Leu1721=)
c.5140C>T (p.Leu1714=)
c.4051C>T (p.Leu1351=)
c.5149C>T (p.Leu1717=)
n.1031C>T
11g.70473243G>CCA381676238SHANK2c.3409C>G (p.Leu1137Val)
c.954C>G (n.954C>G)
c.5176C>G (p.Leu1726Val)
c.2685C>G
c.4039C>G (p.Leu1347Val)
c.3466C>G (p.Leu1156Val)
c.3412C>G (p.Leu1138Val)
c.*180C>G (n.*180C>G)
c.3388C>G (p.Leu1130Val)
c.952C>G
c.3013C>G (p.Leu1005Val)
n.1928C>G
n.1030C>G
c.5146C>G (p.Leu1716Val)
c.5188C>G (p.Leu1730Val)
c.5167C>G (p.Leu1723Val)
c.5161C>G (p.Leu1721Val)
c.5140C>G (p.Leu1714Val)
c.4051C>G (p.Leu1351Val)
c.5149C>G (p.Leu1717Val)
n.1031C>G
11g.70473243G=CA1981067964SHANK2c.3409C= (p.Leu1137=)
c.954C= (n.954C=)
c.5176C= (p.Leu1726=)
c.2685C=
c.4039C= (p.Leu1347=)
c.3466C= (p.Leu1156=)
c.3412C= (p.Leu1138=)
c.*180C= (n.*180C=)
c.3388C= (p.Leu1130=)
c.952C=
c.3013C= (p.Leu1005=)
n.1928C=
n.1030C=
c.5146C= (p.Leu1716=)
c.5188C= (p.Leu1730=)
c.5167C= (p.Leu1723=)
c.5161C= (p.Leu1721=)
c.5140C= (p.Leu1714=)
c.4051C= (p.Leu1351=)
c.5149C= (p.Leu1717=)
n.1031C=
11g.70473243G>TCA6160752SHANK2c.3409C>A (p.Leu1137Met)
c.954C>A (n.954C>A)
c.5176C>A (p.Leu1726Met)
c.2685C>A
c.4039C>A (p.Leu1347Met)
c.3466C>A (p.Leu1156Met)
c.3412C>A (p.Leu1138Met)
c.*180C>A (n.*180C>A)
c.3388C>A (p.Leu1130Met)
c.952C>A
c.3013C>A (p.Leu1005Met)
n.1928C>A
n.1030C>A
c.5146C>A (p.Leu1716Met)
c.5188C>A (p.Leu1730Met)
c.5167C>A (p.Leu1723Met)
c.5161C>A (p.Leu1721Met)
c.5140C>A (p.Leu1714Met)
c.4051C>A (p.Leu1351Met)
c.5149C>A (p.Leu1717Met)
n.1031C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473248dupCA2792603590SHANK2c.3409dup (p.Leu1137ProfsTer17)
c.954dup (n.954dup)
c.5176dup (p.Leu1726ProfsTer17)
c.2685dup
c.4039dup (p.Leu1347ProfsTer17)
c.3466dup (p.Leu1156ProfsTer17)
c.3412dup (p.Leu1138ProfsTer17)
c.*180dup (n.*180dup)
c.3388dup (p.Leu1130ProfsTer17)
c.952dup
c.3013dup (p.Leu1005ProfsTer17)
n.1928dup
n.1030dup
c.5146dup (p.Leu1716ProfsTer17)
c.5188dup (p.Leu1730ProfsTer17)
c.5167dup (p.Leu1723ProfsTer17)
c.5161dup (p.Leu1721ProfsTer17)
c.5140dup (p.Leu1714ProfsTer17)
c.4051dup (p.Leu1351ProfsTer17)
c.5149dup (p.Leu1717ProfsTer17)
n.1031dup
11g.70473248delCA645583697SHANK2c.3409del (p.Leu1137CysfsTer30)
c.954del (n.954del)
c.5176del (p.Leu1726CysfsTer30)
c.2685del
c.4039del (p.Leu1347CysfsTer30)
c.3466del (p.Leu1156CysfsTer30)
c.3412del (p.Leu1138CysfsTer30)
c.*180del (n.*180del)
c.3388del (p.Leu1130CysfsTer30)
c.952del
c.3013del (p.Leu1005CysfsTer30)
n.1928del
n.1030del
c.5146del (p.Leu1716CysfsTer30)
c.5188del (p.Leu1730CysfsTer30)
c.5167del (p.Leu1723CysfsTer30)
c.5161del (p.Leu1721CysfsTer30)
c.5140del (p.Leu1714CysfsTer30)
c.4051del (p.Leu1351CysfsTer30)
c.5149del (p.Leu1717CysfsTer30)
n.1031del
 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473244G>ACA475470669SHANK2c.3408C>T (p.Pro1136=)
c.953C>T (n.953C>T)
c.5175C>T (p.Pro1725=)
c.2684C>T
c.4038C>T (p.Pro1346=)
c.3465C>T (p.Pro1155=)
c.3411C>T (p.Pro1137=)
c.*179C>T (n.*179C>T)
c.3387C>T (p.Pro1129=)
c.951C>T
c.3012C>T (p.Pro1004=)
n.1927C>T
n.1029C>T
c.5145C>T (p.Pro1715=)
c.5187C>T (p.Pro1729=)
c.5166C>T (p.Pro1722=)
c.5160C>T (p.Pro1720=)
c.5139C>T (p.Pro1713=)
c.4050C>T (p.Pro1350=)
c.5148C>T (p.Pro1716=)
n.1030C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473244G>CCA475470671SHANK2c.3408C>G (p.Pro1136=)
c.953C>G (n.953C>G)
c.5175C>G (p.Pro1725=)
c.2684C>G
c.4038C>G (p.Pro1346=)
c.3465C>G (p.Pro1155=)
c.3411C>G (p.Pro1137=)
c.*179C>G (n.*179C>G)
c.3387C>G (p.Pro1129=)
c.951C>G
c.3012C>G (p.Pro1004=)
n.1927C>G
n.1029C>G
c.5145C>G (p.Pro1715=)
c.5187C>G (p.Pro1729=)
c.5166C>G (p.Pro1722=)
c.5160C>G (p.Pro1720=)
c.5139C>G (p.Pro1713=)
c.4050C>G (p.Pro1350=)
c.5148C>G (p.Pro1716=)
n.1030C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473244G=CA1981067965SHANK2c.3408C= (p.Pro1136=)
c.953C= (n.953C=)
c.5175C= (p.Pro1725=)
c.2684C=
c.4038C= (p.Pro1346=)
c.3465C= (p.Pro1155=)
c.3411C= (p.Pro1137=)
c.*179C= (n.*179C=)
c.3387C= (p.Pro1129=)
c.951C=
c.3012C= (p.Pro1004=)
n.1927C=
n.1029C=
c.5145C= (p.Pro1715=)
c.5187C= (p.Pro1729=)
c.5166C= (p.Pro1722=)
c.5160C= (p.Pro1720=)
c.5139C= (p.Pro1713=)
c.4050C= (p.Pro1350=)
c.5148C= (p.Pro1716=)
n.1030C=
11g.70473244G>TCA6160753SHANK2c.3408C>A (p.Pro1136=)
c.953C>A (n.953C>A)
c.5175C>A (p.Pro1725=)
c.2684C>A
c.4038C>A (p.Pro1346=)
c.3465C>A (p.Pro1155=)
c.3411C>A (p.Pro1137=)
c.*179C>A (n.*179C>A)
c.3387C>A (p.Pro1129=)
c.951C>A
c.3012C>A (p.Pro1004=)
n.1927C>A
n.1029C>A
c.5145C>A (p.Pro1715=)
c.5187C>A (p.Pro1729=)
c.5166C>A (p.Pro1722=)
c.5160C>A (p.Pro1720=)
c.5139C>A (p.Pro1713=)
c.4050C>A (p.Pro1350=)
c.5148C>A (p.Pro1716=)
n.1030C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473245G>ACA381676241SHANK2c.3407C>T (p.Pro1136Leu)
c.952C>T (n.952C>T)
c.5174C>T (p.Pro1725Leu)
c.2683C>T
c.4037C>T (p.Pro1346Leu)
c.3464C>T (p.Pro1155Leu)
c.3410C>T (p.Pro1137Leu)
c.*178C>T (n.*178C>T)
c.3386C>T (p.Pro1129Leu)
c.950C>T
c.3011C>T (p.Pro1004Leu)
n.1926C>T
n.1028C>T
c.5144C>T (p.Pro1715Leu)
c.5186C>T (p.Pro1729Leu)
c.5165C>T (p.Pro1722Leu)
c.5159C>T (p.Pro1720Leu)
c.5138C>T (p.Pro1713Leu)
c.4049C>T (p.Pro1350Leu)
c.5147C>T (p.Pro1716Leu)
n.1029C>T
 COSMIC COSMIC COSMIC
11g.70473245G>CCA381676240SHANK2c.3407C>G (p.Pro1136Arg)
c.952C>G (n.952C>G)
c.5174C>G (p.Pro1725Arg)
c.2683C>G
c.4037C>G (p.Pro1346Arg)
c.3464C>G (p.Pro1155Arg)
c.3410C>G (p.Pro1137Arg)
c.*178C>G (n.*178C>G)
c.3386C>G (p.Pro1129Arg)
c.950C>G
c.3011C>G (p.Pro1004Arg)
n.1926C>G
n.1028C>G
c.5144C>G (p.Pro1715Arg)
c.5186C>G (p.Pro1729Arg)
c.5165C>G (p.Pro1722Arg)
c.5159C>G (p.Pro1720Arg)
c.5138C>G (p.Pro1713Arg)
c.4049C>G (p.Pro1350Arg)
c.5147C>G (p.Pro1716Arg)
n.1029C>G
11g.70473245G>TCA381676239SHANK2c.3407C>A (p.Pro1136His)
c.952C>A (n.952C>A)
c.5174C>A (p.Pro1725His)
c.2683C>A
c.4037C>A (p.Pro1346His)
c.3464C>A (p.Pro1155His)
c.3410C>A (p.Pro1137His)
c.*178C>A (n.*178C>A)
c.3386C>A (p.Pro1129His)
c.950C>A
c.3011C>A (p.Pro1004His)
n.1926C>A
n.1028C>A
c.5144C>A (p.Pro1715His)
c.5186C>A (p.Pro1729His)
c.5165C>A (p.Pro1722His)
c.5159C>A (p.Pro1720His)
c.5138C>A (p.Pro1713His)
c.4049C>A (p.Pro1350His)
c.5147C>A (p.Pro1716His)
n.1029C>A
11g.70473246G>ACA6160754SHANK2c.3406C>T (p.Pro1136Ser)
c.951C>T (n.951C>T)
c.5173C>T (p.Pro1725Ser)
c.2682C>T
c.4036C>T (p.Pro1346Ser)
c.3463C>T (p.Pro1155Ser)
c.3409C>T (p.Pro1137Ser)
c.*177C>T (n.*177C>T)
c.3385C>T (p.Pro1129Ser)
c.949C>T
c.3010C>T (p.Pro1004Ser)
n.1925C>T
n.1027C>T
c.5143C>T (p.Pro1715Ser)
c.5185C>T (p.Pro1729Ser)
c.5164C>T (p.Pro1722Ser)
c.5158C>T (p.Pro1720Ser)
c.5137C>T (p.Pro1713Ser)
c.4048C>T (p.Pro1350Ser)
c.5146C>T (p.Pro1716Ser)
n.1028C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473246G>CCA381676242SHANK2c.3406C>G (p.Pro1136Ala)
c.951C>G (n.951C>G)
c.5173C>G (p.Pro1725Ala)
c.2682C>G
c.4036C>G (p.Pro1346Ala)
c.3463C>G (p.Pro1155Ala)
c.3409C>G (p.Pro1137Ala)
c.*177C>G (n.*177C>G)
c.3385C>G (p.Pro1129Ala)
c.949C>G
c.3010C>G (p.Pro1004Ala)
n.1925C>G
n.1027C>G
c.5143C>G (p.Pro1715Ala)
c.5185C>G (p.Pro1729Ala)
c.5164C>G (p.Pro1722Ala)
c.5158C>G (p.Pro1720Ala)
c.5137C>G (p.Pro1713Ala)
c.4048C>G (p.Pro1350Ala)
c.5146C>G (p.Pro1716Ala)
n.1028C>G
11g.70473246G=CA1981067966SHANK2c.3406C= (p.Pro1136=)
c.951C= (n.951C=)
c.5173C= (p.Pro1725=)
c.2682C=
c.4036C= (p.Pro1346=)
c.3463C= (p.Pro1155=)
c.3409C= (p.Pro1137=)
c.*177C= (n.*177C=)
c.3385C= (p.Pro1129=)
c.949C=
c.3010C= (p.Pro1004=)
n.1925C=
n.1027C=
c.5143C= (p.Pro1715=)
c.5185C= (p.Pro1729=)
c.5164C= (p.Pro1722=)
c.5158C= (p.Pro1720=)
c.5137C= (p.Pro1713=)
c.4048C= (p.Pro1350=)
c.5146C= (p.Pro1716=)
n.1028C=
11g.70473246G>TCA381676243SHANK2c.3406C>A (p.Pro1136Thr)
c.951C>A (n.951C>A)
c.5173C>A (p.Pro1725Thr)
c.2682C>A
c.4036C>A (p.Pro1346Thr)
c.3463C>A (p.Pro1155Thr)
c.3409C>A (p.Pro1137Thr)
c.*177C>A (n.*177C>A)
c.3385C>A (p.Pro1129Thr)
c.949C>A
c.3010C>A (p.Pro1004Thr)
n.1925C>A
n.1027C>A
c.5143C>A (p.Pro1715Thr)
c.5185C>A (p.Pro1729Thr)
c.5164C>A (p.Pro1722Thr)
c.5158C>A (p.Pro1720Thr)
c.5137C>A (p.Pro1713Thr)
c.4048C>A (p.Pro1350Thr)
c.5146C>A (p.Pro1716Thr)
n.1028C>A
 gnomAD v4
11g.70473247G>ACA475470674SHANK2c.3405C>T (p.Ala1135=)
c.950C>T (n.950C>T)
c.5172C>T (p.Ala1724=)
c.2681C>T
c.4035C>T (p.Ala1345=)
c.3462C>T (p.Ala1154=)
c.3408C>T (p.Ala1136=)
c.*176C>T (n.*176C>T)
c.3384C>T (p.Ala1128=)
c.948C>T
c.3009C>T (p.Ala1003=)
n.1924C>T
n.1026C>T
c.5142C>T (p.Ala1714=)
c.5184C>T (p.Ala1728=)
c.5163C>T (p.Ala1721=)
c.5157C>T (p.Ala1719=)
c.5136C>T (p.Ala1712=)
c.4047C>T (p.Ala1349=)
c.5145C>T (p.Ala1715=)
n.1027C>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473247G>CCA475470675SHANK2c.3405C>G (p.Ala1135=)
c.950C>G (n.950C>G)
c.5172C>G (p.Ala1724=)
c.2681C>G
c.4035C>G (p.Ala1345=)
c.3462C>G (p.Ala1154=)
c.3408C>G (p.Ala1136=)
c.*176C>G (n.*176C>G)
c.3384C>G (p.Ala1128=)
c.948C>G
c.3009C>G (p.Ala1003=)
n.1924C>G
n.1026C>G
c.5142C>G (p.Ala1714=)
c.5184C>G (p.Ala1728=)
c.5163C>G (p.Ala1721=)
c.5157C>G (p.Ala1719=)
c.5136C>G (p.Ala1712=)
c.4047C>G (p.Ala1349=)
c.5145C>G (p.Ala1715=)
n.1027C>G
11g.70473247G=CA1981067967SHANK2c.3405C= (p.Ala1135=)
c.950C= (n.950C=)
c.5172C= (p.Ala1724=)
c.2681C=
c.4035C= (p.Ala1345=)
c.3462C= (p.Ala1154=)
c.3408C= (p.Ala1136=)
c.*176C= (n.*176C=)
c.3384C= (p.Ala1128=)
c.948C=
c.3009C= (p.Ala1003=)
n.1924C=
n.1026C=
c.5142C= (p.Ala1714=)
c.5184C= (p.Ala1728=)
c.5163C= (p.Ala1721=)
c.5157C= (p.Ala1719=)
c.5136C= (p.Ala1712=)
c.4047C= (p.Ala1349=)
c.5145C= (p.Ala1715=)
n.1027C=
11g.70473247G>TCA475470676SHANK2c.3405C>A (p.Ala1135=)
c.950C>A (n.950C>A)
c.5172C>A (p.Ala1724=)
c.2681C>A
c.4035C>A (p.Ala1345=)
c.3462C>A (p.Ala1154=)
c.3408C>A (p.Ala1136=)
c.*176C>A (n.*176C>A)
c.3384C>A (p.Ala1128=)
c.948C>A
c.3009C>A (p.Ala1003=)
n.1924C>A
n.1026C>A
c.5142C>A (p.Ala1714=)
c.5184C>A (p.Ala1728=)
c.5163C>A (p.Ala1721=)
c.5157C>A (p.Ala1719=)
c.5136C>A (p.Ala1712=)
c.4047C>A (p.Ala1349=)
c.5145C>A (p.Ala1715=)
n.1027C>A
 gnomAD v4
11g.70473248G>ACA381676244SHANK2c.3404C>T (p.Ala1135Val)
c.949C>T (n.949C>T)
c.5171C>T (p.Ala1724Val)
c.2680C>T
c.4034C>T (p.Ala1345Val)
c.3461C>T (p.Ala1154Val)
c.3407C>T (p.Ala1136Val)
c.*175C>T (n.*175C>T)
c.3383C>T (p.Ala1128Val)
c.947C>T
c.3008C>T (p.Ala1003Val)
n.1923C>T
n.1025C>T
c.5141C>T (p.Ala1714Val)
c.5183C>T (p.Ala1728Val)
c.5162C>T (p.Ala1721Val)
c.5156C>T (p.Ala1719Val)
c.5135C>T (p.Ala1712Val)
c.4046C>T (p.Ala1349Val)
c.5144C>T (p.Ala1715Val)
n.1026C>T
11g.70473248G>CCA381676245SHANK2c.3404C>G (p.Ala1135Gly)
c.949C>G (n.949C>G)
c.5171C>G (p.Ala1724Gly)
c.2680C>G
c.4034C>G (p.Ala1345Gly)
c.3461C>G (p.Ala1154Gly)
c.3407C>G (p.Ala1136Gly)
c.*175C>G (n.*175C>G)
c.3383C>G (p.Ala1128Gly)
c.947C>G
c.3008C>G (p.Ala1003Gly)
n.1923C>G
n.1025C>G
c.5141C>G (p.Ala1714Gly)
c.5183C>G (p.Ala1728Gly)
c.5162C>G (p.Ala1721Gly)
c.5156C>G (p.Ala1719Gly)
c.5135C>G (p.Ala1712Gly)
c.4046C>G (p.Ala1349Gly)
c.5144C>G (p.Ala1715Gly)
n.1026C>G
11g.70473248G>TCA381676246SHANK2c.3404C>A (p.Ala1135Asp)
c.949C>A (n.949C>A)
c.5171C>A (p.Ala1724Asp)
c.2680C>A
c.4034C>A (p.Ala1345Asp)
c.3461C>A (p.Ala1154Asp)
c.3407C>A (p.Ala1136Asp)
c.*175C>A (n.*175C>A)
c.3383C>A (p.Ala1128Asp)
c.947C>A
c.3008C>A (p.Ala1003Asp)
n.1923C>A
n.1025C>A
c.5141C>A (p.Ala1714Asp)
c.5183C>A (p.Ala1728Asp)
c.5162C>A (p.Ala1721Asp)
c.5156C>A (p.Ala1719Asp)
c.5135C>A (p.Ala1712Asp)
c.4046C>A (p.Ala1349Asp)
c.5144C>A (p.Ala1715Asp)
n.1026C>A
11g.70473249C>ACA381676247SHANK2c.3403G>T (p.Ala1135Ser)
c.948G>T (n.948G>T)
c.5170G>T (p.Ala1724Ser)
c.2679G>T
c.4033G>T (p.Ala1345Ser)
c.3460G>T (p.Ala1154Ser)
c.3406G>T (p.Ala1136Ser)
c.*174G>T (n.*174G>T)
c.3382G>T (p.Ala1128Ser)
c.946G>T
c.3007G>T (p.Ala1003Ser)
n.1922G>T
n.1024G>T
c.5140G>T (p.Ala1714Ser)
c.5182G>T (p.Ala1728Ser)
c.5161G>T (p.Ala1721Ser)
c.5155G>T (p.Ala1719Ser)
c.5134G>T (p.Ala1712Ser)
c.4045G>T (p.Ala1349Ser)
c.5143G>T (p.Ala1715Ser)
n.1025G>T
11g.70473249C=CA1981067968SHANK2c.3403G= (p.Ala1135=)
c.948G= (n.948G=)
c.5170G= (p.Ala1724=)
c.2679G=
c.4033G= (p.Ala1345=)
c.3460G= (p.Ala1154=)
c.3406G= (p.Ala1136=)
c.*174G= (n.*174G=)
c.3382G= (p.Ala1128=)
c.946G=
c.3007G= (p.Ala1003=)
n.1922G=
n.1024G=
c.5140G= (p.Ala1714=)
c.5182G= (p.Ala1728=)
c.5161G= (p.Ala1721=)
c.5155G= (p.Ala1719=)
c.5134G= (p.Ala1712=)
c.4045G= (p.Ala1349=)
c.5143G= (p.Ala1715=)
n.1025G=
11g.70473249C>GCA381676248SHANK2c.3403G>C (p.Ala1135Pro)
c.948G>C (n.948G>C)
c.5170G>C (p.Ala1724Pro)
c.2679G>C
c.4033G>C (p.Ala1345Pro)
c.3460G>C (p.Ala1154Pro)
c.3406G>C (p.Ala1136Pro)
c.*174G>C (n.*174G>C)
c.3382G>C (p.Ala1128Pro)
c.946G>C
c.3007G>C (p.Ala1003Pro)
n.1922G>C
n.1024G>C
c.5140G>C (p.Ala1714Pro)
c.5182G>C (p.Ala1728Pro)
c.5161G>C (p.Ala1721Pro)
c.5155G>C (p.Ala1719Pro)
c.5134G>C (p.Ala1712Pro)
c.4045G>C (p.Ala1349Pro)
c.5143G>C (p.Ala1715Pro)
n.1025G>C
11g.70473249C>TCA6160755SHANK2c.3403G>A (p.Ala1135Thr)
c.948G>A (n.948G>A)
c.5170G>A (p.Ala1724Thr)
c.2679G>A
c.4033G>A (p.Ala1345Thr)
c.3460G>A (p.Ala1154Thr)
c.3406G>A (p.Ala1136Thr)
c.*174G>A (n.*174G>A)
c.3382G>A (p.Ala1128Thr)
c.946G>A
c.3007G>A (p.Ala1003Thr)
n.1922G>A
n.1024G>A
c.5140G>A (p.Ala1714Thr)
c.5182G>A (p.Ala1728Thr)
c.5161G>A (p.Ala1721Thr)
c.5155G>A (p.Ala1719Thr)
c.5134G>A (p.Ala1712Thr)
c.4045G>A (p.Ala1349Thr)
c.5143G>A (p.Ala1715Thr)
n.1025G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473250G>ACA6160756SHANK2c.3402C>T (p.Pro1134=)
c.947C>T (n.947C>T)
c.5169C>T (p.Pro1723=)
c.2678C>T
c.4032C>T (p.Pro1344=)
c.3459C>T (p.Pro1153=)
c.3405C>T (p.Pro1135=)
c.*173C>T (n.*173C>T)
c.3381C>T (p.Pro1127=)
c.945C>T
c.3006C>T (p.Pro1002=)
n.1921C>T
n.1023C>T
c.5139C>T (p.Pro1713=)
c.5181C>T (p.Pro1727=)
c.5160C>T (p.Pro1720=)
c.5154C>T (p.Pro1718=)
c.5133C>T (p.Pro1711=)
c.4044C>T (p.Pro1348=)
c.5142C>T (p.Pro1714=)
n.1024C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473250G>CCA475470680SHANK2c.3402C>G (p.Pro1134=)
c.947C>G (n.947C>G)
c.5169C>G (p.Pro1723=)
c.2678C>G
c.4032C>G (p.Pro1344=)
c.3459C>G (p.Pro1153=)
c.3405C>G (p.Pro1135=)
c.*173C>G (n.*173C>G)
c.3381C>G (p.Pro1127=)
c.945C>G
c.3006C>G (p.Pro1002=)
n.1921C>G
n.1023C>G
c.5139C>G (p.Pro1713=)
c.5181C>G (p.Pro1727=)
c.5160C>G (p.Pro1720=)
c.5154C>G (p.Pro1718=)
c.5133C>G (p.Pro1711=)
c.4044C>G (p.Pro1348=)
c.5142C>G (p.Pro1714=)
n.1024C>G
 dbSNP
11g.70473250G=CA1981067969SHANK2c.3402C= (p.Pro1134=)
c.947C= (n.947C=)
c.5169C= (p.Pro1723=)
c.2678C=
c.4032C= (p.Pro1344=)
c.3459C= (p.Pro1153=)
c.3405C= (p.Pro1135=)
c.*173C= (n.*173C=)
c.3381C= (p.Pro1127=)
c.945C=
c.3006C= (p.Pro1002=)
n.1921C=
n.1023C=
c.5139C= (p.Pro1713=)
c.5181C= (p.Pro1727=)
c.5160C= (p.Pro1720=)
c.5154C= (p.Pro1718=)
c.5133C= (p.Pro1711=)
c.4044C= (p.Pro1348=)
c.5142C= (p.Pro1714=)
n.1024C=
11g.70473250G>TCA475470681SHANK2c.3402C>A (p.Pro1134=)
c.947C>A (n.947C>A)
c.5169C>A (p.Pro1723=)
c.2678C>A
c.4032C>A (p.Pro1344=)
c.3459C>A (p.Pro1153=)
c.3405C>A (p.Pro1135=)
c.*173C>A (n.*173C>A)
c.3381C>A (p.Pro1127=)
c.945C>A
c.3006C>A (p.Pro1002=)
n.1921C>A
n.1023C>A
c.5139C>A (p.Pro1713=)
c.5181C>A (p.Pro1727=)
c.5160C>A (p.Pro1720=)
c.5154C>A (p.Pro1718=)
c.5133C>A (p.Pro1711=)
c.4044C>A (p.Pro1348=)
c.5142C>A (p.Pro1714=)
n.1024C>A
11g.70473251G>ACA381676249SHANK2c.3401C>T (p.Pro1134Leu)
c.946C>T (n.946C>T)
c.5168C>T (p.Pro1723Leu)
c.2677C>T
c.4031C>T (p.Pro1344Leu)
c.3458C>T (p.Pro1153Leu)
c.3404C>T (p.Pro1135Leu)
c.*172C>T (n.*172C>T)
c.3380C>T (p.Pro1127Leu)
c.944C>T
c.3005C>T (p.Pro1002Leu)
n.1920C>T
n.1022C>T
c.5138C>T (p.Pro1713Leu)
c.5180C>T (p.Pro1727Leu)
c.5159C>T (p.Pro1720Leu)
c.5153C>T (p.Pro1718Leu)
c.5132C>T (p.Pro1711Leu)
c.4043C>T (p.Pro1348Leu)
c.5141C>T (p.Pro1714Leu)
n.1023C>T
 gnomAD v4
11g.70473251G>CCA381676250SHANK2c.3401C>G (p.Pro1134Arg)
c.946C>G (n.946C>G)
c.5168C>G (p.Pro1723Arg)
c.2677C>G
c.4031C>G (p.Pro1344Arg)
c.3458C>G (p.Pro1153Arg)
c.3404C>G (p.Pro1135Arg)
c.*172C>G (n.*172C>G)
c.3380C>G (p.Pro1127Arg)
c.944C>G
c.3005C>G (p.Pro1002Arg)
n.1920C>G
n.1022C>G
c.5138C>G (p.Pro1713Arg)
c.5180C>G (p.Pro1727Arg)
c.5159C>G (p.Pro1720Arg)
c.5153C>G (p.Pro1718Arg)
c.5132C>G (p.Pro1711Arg)
c.4043C>G (p.Pro1348Arg)
c.5141C>G (p.Pro1714Arg)
n.1023C>G
11g.70473251G>TCA381676251SHANK2c.3401C>A (p.Pro1134His)
c.946C>A (n.946C>A)
c.5168C>A (p.Pro1723His)
c.2677C>A
c.4031C>A (p.Pro1344His)
c.3458C>A (p.Pro1153His)
c.3404C>A (p.Pro1135His)
c.*172C>A (n.*172C>A)
c.3380C>A (p.Pro1127His)
c.944C>A
c.3005C>A (p.Pro1002His)
n.1920C>A
n.1022C>A
c.5138C>A (p.Pro1713His)
c.5180C>A (p.Pro1727His)
c.5159C>A (p.Pro1720His)
c.5153C>A (p.Pro1718His)
c.5132C>A (p.Pro1711His)
c.4043C>A (p.Pro1348His)
c.5141C>A (p.Pro1714His)
n.1023C>A
11g.70473252G>ACA381676253SHANK2c.3400C>T (p.Pro1134Ser)
c.945C>T (n.945C>T)
c.5167C>T (p.Pro1723Ser)
c.2676C>T
c.4030C>T (p.Pro1344Ser)
c.3457C>T (p.Pro1153Ser)
c.3403C>T (p.Pro1135Ser)
c.*171C>T (n.*171C>T)
c.3379C>T (p.Pro1127Ser)
c.943C>T
c.3004C>T (p.Pro1002Ser)
n.1919C>T
n.1021C>T
c.5137C>T (p.Pro1713Ser)
c.5179C>T (p.Pro1727Ser)
c.5158C>T (p.Pro1720Ser)
c.5152C>T (p.Pro1718Ser)
c.5131C>T (p.Pro1711Ser)
c.4042C>T (p.Pro1348Ser)
c.5140C>T (p.Pro1714Ser)
n.1022C>T
11g.70473252G>CCA381676254SHANK2c.3400C>G (p.Pro1134Ala)
c.945C>G (n.945C>G)
c.5167C>G (p.Pro1723Ala)
c.2676C>G
c.4030C>G (p.Pro1344Ala)
c.3457C>G (p.Pro1153Ala)
c.3403C>G (p.Pro1135Ala)
c.*171C>G (n.*171C>G)
c.3379C>G (p.Pro1127Ala)
c.943C>G
c.3004C>G (p.Pro1002Ala)
n.1919C>G
n.1021C>G
c.5137C>G (p.Pro1713Ala)
c.5179C>G (p.Pro1727Ala)
c.5158C>G (p.Pro1720Ala)
c.5152C>G (p.Pro1718Ala)
c.5131C>G (p.Pro1711Ala)
c.4042C>G (p.Pro1348Ala)
c.5140C>G (p.Pro1714Ala)
n.1022C>G
11g.70473252G>TCA381676252SHANK2c.3400C>A (p.Pro1134Thr)
c.945C>A (n.945C>A)
c.5167C>A (p.Pro1723Thr)
c.2676C>A
c.4030C>A (p.Pro1344Thr)
c.3457C>A (p.Pro1153Thr)
c.3403C>A (p.Pro1135Thr)
c.*171C>A (n.*171C>A)
c.3379C>A (p.Pro1127Thr)
c.943C>A
c.3004C>A (p.Pro1002Thr)
n.1919C>A
n.1021C>A
c.5137C>A (p.Pro1713Thr)
c.5179C>A (p.Pro1727Thr)
c.5158C>A (p.Pro1720Thr)
c.5152C>A (p.Pro1718Thr)
c.5131C>A (p.Pro1711Thr)
c.4042C>A (p.Pro1348Thr)
c.5140C>A (p.Pro1714Thr)
n.1022C>A
 gnomAD v4
11g.70473253C>ACA475470685SHANK2c.3399G>T (p.Leu1133=)
c.944G>T (n.944G>T)
c.5166G>T (p.Leu1722=)
c.2675G>T
c.4029G>T (p.Leu1343=)
c.3456G>T (p.Leu1152=)
c.3402G>T (p.Leu1134=)
c.*170G>T (n.*170G>T)
c.3378G>T (p.Leu1126=)
c.942G>T
c.3003G>T (p.Leu1001=)
n.1918G>T
n.1020G>T
c.5136G>T (p.Leu1712=)
c.5178G>T (p.Leu1726=)
c.5157G>T (p.Leu1719=)
c.5151G>T (p.Leu1717=)
c.5130G>T (p.Leu1710=)
c.4041G>T (p.Leu1347=)
c.5139G>T (p.Leu1713=)
n.1021G>T
11g.70473253C>GCA475470687SHANK2c.3399G>C (p.Leu1133=)
c.944G>C (n.944G>C)
c.5166G>C (p.Leu1722=)
c.2675G>C
c.4029G>C (p.Leu1343=)
c.3456G>C (p.Leu1152=)
c.3402G>C (p.Leu1134=)
c.*170G>C (n.*170G>C)
c.3378G>C (p.Leu1126=)
c.942G>C
c.3003G>C (p.Leu1001=)
n.1918G>C
n.1020G>C
c.5136G>C (p.Leu1712=)
c.5178G>C (p.Leu1726=)
c.5157G>C (p.Leu1719=)
c.5151G>C (p.Leu1717=)
c.5130G>C (p.Leu1710=)
c.4041G>C (p.Leu1347=)
c.5139G>C (p.Leu1713=)
n.1021G>C
11g.70473253C>TCA475470688SHANK2c.3399G>A (p.Leu1133=)
c.944G>A (n.944G>A)
c.5166G>A (p.Leu1722=)
c.2675G>A
c.4029G>A (p.Leu1343=)
c.3456G>A (p.Leu1152=)
c.3402G>A (p.Leu1134=)
c.*170G>A (n.*170G>A)
c.3378G>A (p.Leu1126=)
c.942G>A
c.3003G>A (p.Leu1001=)
n.1918G>A
n.1020G>A
c.5136G>A (p.Leu1712=)
c.5178G>A (p.Leu1726=)
c.5157G>A (p.Leu1719=)
c.5151G>A (p.Leu1717=)
c.5130G>A (p.Leu1710=)
c.4041G>A (p.Leu1347=)
c.5139G>A (p.Leu1713=)
n.1021G>A
 gnomAD v4
11g.70473254A=CA1981067970SHANK2c.3398T= (p.Leu1133=)
c.943T= (n.943T=)
c.5165T= (p.Leu1722=)
c.2674T=
c.4028T= (p.Leu1343=)
c.3455T= (p.Leu1152=)
c.3401T= (p.Leu1134=)
c.*169T= (n.*169T=)
c.3377T= (p.Leu1126=)
c.941T=
c.3002T= (p.Leu1001=)
n.1917T=
n.1019T=
c.5135T= (p.Leu1712=)
c.5177T= (p.Leu1726=)
c.5156T= (p.Leu1719=)
c.5150T= (p.Leu1717=)
c.5129T= (p.Leu1710=)
c.4040T= (p.Leu1347=)
c.5138T= (p.Leu1713=)
n.1020T=
11g.70473254A>CCA381676255SHANK2c.3398T>G (p.Leu1133Arg)
c.943T>G (n.943T>G)
c.5165T>G (p.Leu1722Arg)
c.2674T>G
c.4028T>G (p.Leu1343Arg)
c.3455T>G (p.Leu1152Arg)
c.3401T>G (p.Leu1134Arg)
c.*169T>G (n.*169T>G)
c.3377T>G (p.Leu1126Arg)
c.941T>G
c.3002T>G (p.Leu1001Arg)
n.1917T>G
n.1019T>G
c.5135T>G (p.Leu1712Arg)
c.5177T>G (p.Leu1726Arg)
c.5156T>G (p.Leu1719Arg)
c.5150T>G (p.Leu1717Arg)
c.5129T>G (p.Leu1710Arg)
c.4040T>G (p.Leu1347Arg)
c.5138T>G (p.Leu1713Arg)
n.1020T>G
11g.70473254A>GCA6160757SHANK2c.3398T>C (p.Leu1133Pro)
c.943T>C (n.943T>C)
c.5165T>C (p.Leu1722Pro)
c.2674T>C
c.4028T>C (p.Leu1343Pro)
c.3455T>C (p.Leu1152Pro)
c.3401T>C (p.Leu1134Pro)
c.*169T>C (n.*169T>C)
c.3377T>C (p.Leu1126Pro)
c.941T>C
c.3002T>C (p.Leu1001Pro)
n.1917T>C
n.1019T>C
c.5135T>C (p.Leu1712Pro)
c.5177T>C (p.Leu1726Pro)
c.5156T>C (p.Leu1719Pro)
c.5150T>C (p.Leu1717Pro)
c.5129T>C (p.Leu1710Pro)
c.4040T>C (p.Leu1347Pro)
c.5138T>C (p.Leu1713Pro)
n.1020T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473254A>TCA381676256SHANK2c.3398T>A (p.Leu1133Gln)
c.943T>A (n.943T>A)
c.5165T>A (p.Leu1722Gln)
c.2674T>A
c.4028T>A (p.Leu1343Gln)
c.3455T>A (p.Leu1152Gln)
c.3401T>A (p.Leu1134Gln)
c.*169T>A (n.*169T>A)
c.3377T>A (p.Leu1126Gln)
c.941T>A
c.3002T>A (p.Leu1001Gln)
n.1917T>A
n.1019T>A
c.5135T>A (p.Leu1712Gln)
c.5177T>A (p.Leu1726Gln)
c.5156T>A (p.Leu1719Gln)
c.5150T>A (p.Leu1717Gln)
c.5129T>A (p.Leu1710Gln)
c.4040T>A (p.Leu1347Gln)
c.5138T>A (p.Leu1713Gln)
n.1020T>A
11g.70473255G>ACA475470692SHANK2c.3397C>T (p.Leu1133=)
c.942C>T (n.942C>T)
c.5164C>T (p.Leu1722=)
c.2673C>T
c.4027C>T (p.Leu1343=)
c.3454C>T (p.Leu1152=)
c.3400C>T (p.Leu1134=)
c.*168C>T (n.*168C>T)
c.3376C>T (p.Leu1126=)
c.940C>T
c.3001C>T (p.Leu1001=)
n.1916C>T
n.1018C>T
c.5134C>T (p.Leu1712=)
c.5176C>T (p.Leu1726=)
c.5155C>T (p.Leu1719=)
c.5149C>T (p.Leu1717=)
c.5128C>T (p.Leu1710=)
c.4039C>T (p.Leu1347=)
c.5137C>T (p.Leu1713=)
n.1019C>T
 gnomAD v4
11g.70473255G>CCA381676257SHANK2c.3397C>G (p.Leu1133Val)
c.942C>G (n.942C>G)
c.5164C>G (p.Leu1722Val)
c.2673C>G
c.4027C>G (p.Leu1343Val)
c.3454C>G (p.Leu1152Val)
c.3400C>G (p.Leu1134Val)
c.*168C>G (n.*168C>G)
c.3376C>G (p.Leu1126Val)
c.940C>G
c.3001C>G (p.Leu1001Val)
n.1916C>G
n.1018C>G
c.5134C>G (p.Leu1712Val)
c.5176C>G (p.Leu1726Val)
c.5155C>G (p.Leu1719Val)
c.5149C>G (p.Leu1717Val)
c.5128C>G (p.Leu1710Val)
c.4039C>G (p.Leu1347Val)
c.5137C>G (p.Leu1713Val)
n.1019C>G
11g.70473255G>TCA381676258SHANK2c.3397C>A (p.Leu1133Met)
c.942C>A (n.942C>A)
c.5164C>A (p.Leu1722Met)
c.2673C>A
c.4027C>A (p.Leu1343Met)
c.3454C>A (p.Leu1152Met)
c.3400C>A (p.Leu1134Met)
c.*168C>A (n.*168C>A)
c.3376C>A (p.Leu1126Met)
c.940C>A
c.3001C>A (p.Leu1001Met)
n.1916C>A
n.1018C>A
c.5134C>A (p.Leu1712Met)
c.5176C>A (p.Leu1726Met)
c.5155C>A (p.Leu1719Met)
c.5149C>A (p.Leu1717Met)
c.5128C>A (p.Leu1710Met)
c.4039C>A (p.Leu1347Met)
c.5137C>A (p.Leu1713Met)
n.1019C>A
11g.70473256G>ACA475470693SHANK2c.3396C>T (p.Thr1132=)
c.941C>T (n.941C>T)
c.5163C>T (p.Thr1721=)
c.2672C>T
c.4026C>T (p.Thr1342=)
c.3453C>T (p.Thr1151=)
c.3399C>T (p.Thr1133=)
c.*167C>T (n.*167C>T)
c.3375C>T (p.Thr1125=)
c.939C>T
c.3000C>T (p.Thr1000=)
n.1915C>T
n.1017C>T
c.5133C>T (p.Thr1711=)
c.5175C>T (p.Thr1725=)
c.5154C>T (p.Thr1718=)
c.5148C>T (p.Thr1716=)
c.5127C>T (p.Thr1709=)
c.4038C>T (p.Thr1346=)
c.5136C>T (p.Thr1712=)
n.1018C>T
11g.70473256G>CCA475470694SHANK2c.3396C>G (p.Thr1132=)
c.941C>G (n.941C>G)
c.5163C>G (p.Thr1721=)
c.2672C>G
c.4026C>G (p.Thr1342=)
c.3453C>G (p.Thr1151=)
c.3399C>G (p.Thr1133=)
c.*167C>G (n.*167C>G)
c.3375C>G (p.Thr1125=)
c.939C>G
c.3000C>G (p.Thr1000=)
n.1915C>G
n.1017C>G
c.5133C>G (p.Thr1711=)
c.5175C>G (p.Thr1725=)
c.5154C>G (p.Thr1718=)
c.5148C>G (p.Thr1716=)
c.5127C>G (p.Thr1709=)
c.4038C>G (p.Thr1346=)
c.5136C>G (p.Thr1712=)
n.1018C>G
11g.70473256G>TCA475470695SHANK2c.3396C>A (p.Thr1132=)
c.941C>A (n.941C>A)
c.5163C>A (p.Thr1721=)
c.2672C>A
c.4026C>A (p.Thr1342=)
c.3453C>A (p.Thr1151=)
c.3399C>A (p.Thr1133=)
c.*167C>A (n.*167C>A)
c.3375C>A (p.Thr1125=)
c.939C>A
c.3000C>A (p.Thr1000=)
n.1915C>A
n.1017C>A
c.5133C>A (p.Thr1711=)
c.5175C>A (p.Thr1725=)
c.5154C>A (p.Thr1718=)
c.5148C>A (p.Thr1716=)
c.5127C>A (p.Thr1709=)
c.4038C>A (p.Thr1346=)
c.5136C>A (p.Thr1712=)
n.1018C>A
11g.70473257G>ACA381676259SHANK2c.3395C>T (p.Thr1132Ile)
c.940C>T (n.940C>T)
c.5162C>T (p.Thr1721Ile)
c.2671C>T
c.4025C>T (p.Thr1342Ile)
c.3452C>T (p.Thr1151Ile)
c.3398C>T (p.Thr1133Ile)
c.*166C>T (n.*166C>T)
c.3374C>T (p.Thr1125Ile)
c.938C>T
c.2999C>T (p.Thr1000Ile)
n.1914C>T
n.1016C>T
c.5132C>T (p.Thr1711Ile)
c.5174C>T (p.Thr1725Ile)
c.5153C>T (p.Thr1718Ile)
c.5147C>T (p.Thr1716Ile)
c.5126C>T (p.Thr1709Ile)
c.4037C>T (p.Thr1346Ile)
c.5135C>T (p.Thr1712Ile)
n.1017C>T
11g.70473257G>CCA381676260SHANK2c.3395C>G (p.Thr1132Ser)
c.940C>G (n.940C>G)
c.5162C>G (p.Thr1721Ser)
c.2671C>G
c.4025C>G (p.Thr1342Ser)
c.3452C>G (p.Thr1151Ser)
c.3398C>G (p.Thr1133Ser)
c.*166C>G (n.*166C>G)
c.3374C>G (p.Thr1125Ser)
c.938C>G
c.2999C>G (p.Thr1000Ser)
n.1914C>G
n.1016C>G
c.5132C>G (p.Thr1711Ser)
c.5174C>G (p.Thr1725Ser)
c.5153C>G (p.Thr1718Ser)
c.5147C>G (p.Thr1716Ser)
c.5126C>G (p.Thr1709Ser)
c.4037C>G (p.Thr1346Ser)
c.5135C>G (p.Thr1712Ser)
n.1017C>G
11g.70473257G=CA1981067971SHANK2c.3395C= (p.Thr1132=)
c.940C= (n.940C=)
c.5162C= (p.Thr1721=)
c.2671C=
c.4025C= (p.Thr1342=)
c.3452C= (p.Thr1151=)
c.3398C= (p.Thr1133=)
c.*166C= (n.*166C=)
c.3374C= (p.Thr1125=)
c.938C=
c.2999C= (p.Thr1000=)
n.1914C=
n.1016C=
c.5132C= (p.Thr1711=)
c.5174C= (p.Thr1725=)
c.5153C= (p.Thr1718=)
c.5147C= (p.Thr1716=)
c.5126C= (p.Thr1709=)
c.4037C= (p.Thr1346=)
c.5135C= (p.Thr1712=)
n.1017C=
11g.70473257G>TCA381676261SHANK2c.3395C>A (p.Thr1132Asn)
c.940C>A (n.940C>A)
c.5162C>A (p.Thr1721Asn)
c.2671C>A
c.4025C>A (p.Thr1342Asn)
c.3452C>A (p.Thr1151Asn)
c.3398C>A (p.Thr1133Asn)
c.*166C>A (n.*166C>A)
c.3374C>A (p.Thr1125Asn)
c.938C>A
c.2999C>A (p.Thr1000Asn)
n.1914C>A
n.1016C>A
c.5132C>A (p.Thr1711Asn)
c.5174C>A (p.Thr1725Asn)
c.5153C>A (p.Thr1718Asn)
c.5147C>A (p.Thr1716Asn)
c.5126C>A (p.Thr1709Asn)
c.4037C>A (p.Thr1346Asn)
c.5135C>A (p.Thr1712Asn)
n.1017C>A
 dbSNP gnomAD v2 gnomAD v4
11g.70473258T>ACA381676262SHANK2c.3394A>T (p.Thr1132Ser)
c.939A>T (n.939A>T)
c.5161A>T (p.Thr1721Ser)
c.2670A>T
c.4024A>T (p.Thr1342Ser)
c.3451A>T (p.Thr1151Ser)
c.3397A>T (p.Thr1133Ser)
c.*165A>T (n.*165A>T)
c.3373A>T (p.Thr1125Ser)
c.937A>T
c.2998A>T (p.Thr1000Ser)
n.1913A>T
n.1015A>T
c.5131A>T (p.Thr1711Ser)
c.5173A>T (p.Thr1725Ser)
c.5152A>T (p.Thr1718Ser)
c.5146A>T (p.Thr1716Ser)
c.5125A>T (p.Thr1709Ser)
c.4036A>T (p.Thr1346Ser)
c.5134A>T (p.Thr1712Ser)
n.1016A>T
11g.70473258T>CCA381676263SHANK2c.3394A>G (p.Thr1132Ala)
c.939A>G (n.939A>G)
c.5161A>G (p.Thr1721Ala)
c.2670A>G
c.4024A>G (p.Thr1342Ala)
c.3451A>G (p.Thr1151Ala)
c.3397A>G (p.Thr1133Ala)
c.*165A>G (n.*165A>G)
c.3373A>G (p.Thr1125Ala)
c.937A>G
c.2998A>G (p.Thr1000Ala)
n.1913A>G
n.1015A>G
c.5131A>G (p.Thr1711Ala)
c.5173A>G (p.Thr1725Ala)
c.5152A>G (p.Thr1718Ala)
c.5146A>G (p.Thr1716Ala)
c.5125A>G (p.Thr1709Ala)
c.4036A>G (p.Thr1346Ala)
c.5134A>G (p.Thr1712Ala)
n.1016A>G
11g.70473258T>GCA381676264SHANK2c.3394A>C (p.Thr1132Pro)
c.939A>C (n.939A>C)
c.5161A>C (p.Thr1721Pro)
c.2670A>C
c.4024A>C (p.Thr1342Pro)
c.3451A>C (p.Thr1151Pro)
c.3397A>C (p.Thr1133Pro)
c.*165A>C (n.*165A>C)
c.3373A>C (p.Thr1125Pro)
c.937A>C
c.2998A>C (p.Thr1000Pro)
n.1913A>C
n.1015A>C
c.5131A>C (p.Thr1711Pro)
c.5173A>C (p.Thr1725Pro)
c.5152A>C (p.Thr1718Pro)
c.5146A>C (p.Thr1716Pro)
c.5125A>C (p.Thr1709Pro)
c.4036A>C (p.Thr1346Pro)
c.5134A>C (p.Thr1712Pro)
n.1016A>C
11g.70473259C>ACA381676265SHANK2c.3393G>T (p.Glu1131Asp)
c.938G>T (n.938G>T)
c.5160G>T (p.Glu1720Asp)
c.2669G>T
c.4023G>T (p.Glu1341Asp)
c.3450G>T (p.Glu1150Asp)
c.3396G>T (p.Glu1132Asp)
c.*164G>T (n.*164G>T)
c.3372G>T (p.Glu1124Asp)
c.936G>T
c.2997G>T (p.Glu999Asp)
n.1912G>T
n.1014G>T
c.5130G>T (p.Glu1710Asp)
c.5172G>T (p.Glu1724Asp)
c.5151G>T (p.Glu1717Asp)
c.5145G>T (p.Glu1715Asp)
c.5124G>T (p.Glu1708Asp)
c.4035G>T (p.Glu1345Asp)
c.5133G>T (p.Glu1711Asp)
n.1015G>T
11g.70473259C>GCA381676266SHANK2c.3393G>C (p.Glu1131Asp)
c.938G>C (n.938G>C)
c.5160G>C (p.Glu1720Asp)
c.2669G>C
c.4023G>C (p.Glu1341Asp)
c.3450G>C (p.Glu1150Asp)
c.3396G>C (p.Glu1132Asp)
c.*164G>C (n.*164G>C)
c.3372G>C (p.Glu1124Asp)
c.936G>C
c.2997G>C (p.Glu999Asp)
n.1912G>C
n.1014G>C
c.5130G>C (p.Glu1710Asp)
c.5172G>C (p.Glu1724Asp)
c.5151G>C (p.Glu1717Asp)
c.5145G>C (p.Glu1715Asp)
c.5124G>C (p.Glu1708Asp)
c.4035G>C (p.Glu1345Asp)
c.5133G>C (p.Glu1711Asp)
n.1015G>C
11g.70473259C>TCA475470700SHANK2c.3393G>A (p.Glu1131=)
c.938G>A (n.938G>A)
c.5160G>A (p.Glu1720=)
c.2669G>A
c.4023G>A (p.Glu1341=)
c.3450G>A (p.Glu1150=)
c.3396G>A (p.Glu1132=)
c.*164G>A (n.*164G>A)
c.3372G>A (p.Glu1124=)
c.936G>A
c.2997G>A (p.Glu999=)
n.1912G>A
n.1014G>A
c.5130G>A (p.Glu1710=)
c.5172G>A (p.Glu1724=)
c.5151G>A (p.Glu1717=)
c.5145G>A (p.Glu1715=)
c.5124G>A (p.Glu1708=)
c.4035G>A (p.Glu1345=)
c.5133G>A (p.Glu1711=)
n.1015G>A
11g.70473260T>ACA381676267SHANK2c.3392A>T (p.Glu1131Val)
c.937A>T (n.937A>T)
c.5159A>T (p.Glu1720Val)
c.2668A>T
c.4022A>T (p.Glu1341Val)
c.3449A>T (p.Glu1150Val)
c.3395A>T (p.Glu1132Val)
c.*163A>T (n.*163A>T)
c.3371A>T (p.Glu1124Val)
c.935A>T
c.2996A>T (p.Glu999Val)
n.1911A>T
n.1013A>T
c.5129A>T (p.Glu1710Val)
c.5171A>T (p.Glu1724Val)
c.5150A>T (p.Glu1717Val)
c.5144A>T (p.Glu1715Val)
c.5123A>T (p.Glu1708Val)
c.4034A>T (p.Glu1345Val)
c.5132A>T (p.Glu1711Val)
n.1014A>T
11g.70473260T>CCA381676268SHANK2c.3392A>G (p.Glu1131Gly)
c.937A>G (n.937A>G)
c.5159A>G (p.Glu1720Gly)
c.2668A>G
c.4022A>G (p.Glu1341Gly)
c.3449A>G (p.Glu1150Gly)
c.3395A>G (p.Glu1132Gly)
c.*163A>G (n.*163A>G)
c.3371A>G (p.Glu1124Gly)
c.935A>G
c.2996A>G (p.Glu999Gly)
n.1911A>G
n.1013A>G
c.5129A>G (p.Glu1710Gly)
c.5171A>G (p.Glu1724Gly)
c.5150A>G (p.Glu1717Gly)
c.5144A>G (p.Glu1715Gly)
c.5123A>G (p.Glu1708Gly)
c.4034A>G (p.Glu1345Gly)
c.5132A>G (p.Glu1711Gly)
n.1014A>G
11g.70473260T>GCA381676269SHANK2c.3392A>C (p.Glu1131Ala)
c.937A>C (n.937A>C)
c.5159A>C (p.Glu1720Ala)
c.2668A>C
c.4022A>C (p.Glu1341Ala)
c.3449A>C (p.Glu1150Ala)
c.3395A>C (p.Glu1132Ala)
c.*163A>C (n.*163A>C)
c.3371A>C (p.Glu1124Ala)
c.935A>C
c.2996A>C (p.Glu999Ala)
n.1911A>C
n.1013A>C
c.5129A>C (p.Glu1710Ala)
c.5171A>C (p.Glu1724Ala)
c.5150A>C (p.Glu1717Ala)
c.5144A>C (p.Glu1715Ala)
c.5123A>C (p.Glu1708Ala)
c.4034A>C (p.Glu1345Ala)
c.5132A>C (p.Glu1711Ala)
n.1014A>C
11g.70473261C>ACA381676270SHANK2c.3391G>T (p.Glu1131Ter)
c.936G>T (n.936G>T)
c.5158G>T (p.Glu1720Ter)
c.2667G>T
c.4021G>T (p.Glu1341Ter)
c.3448G>T (p.Glu1150Ter)
c.3394G>T (p.Glu1132Ter)
c.*162G>T (n.*162G>T)
c.3370G>T (p.Glu1124Ter)
c.934G>T
c.2995G>T (p.Glu999Ter)
n.1910G>T
n.1012G>T
c.5128G>T (p.Glu1710Ter)
c.5170G>T (p.Glu1724Ter)
c.5149G>T (p.Glu1717Ter)
c.5143G>T (p.Glu1715Ter)
c.5122G>T (p.Glu1708Ter)
c.4033G>T (p.Glu1345Ter)
c.5131G>T (p.Glu1711Ter)
n.1013G>T
11g.70473261C>GCA381676272SHANK2c.3391G>C (p.Glu1131Gln)
c.936G>C (n.936G>C)
c.5158G>C (p.Glu1720Gln)
c.2667G>C
c.4021G>C (p.Glu1341Gln)
c.3448G>C (p.Glu1150Gln)
c.3394G>C (p.Glu1132Gln)
c.*162G>C (n.*162G>C)
c.3370G>C (p.Glu1124Gln)
c.934G>C
c.2995G>C (p.Glu999Gln)
n.1910G>C
n.1012G>C
c.5128G>C (p.Glu1710Gln)
c.5170G>C (p.Glu1724Gln)
c.5149G>C (p.Glu1717Gln)
c.5143G>C (p.Glu1715Gln)
c.5122G>C (p.Glu1708Gln)
c.4033G>C (p.Glu1345Gln)
c.5131G>C (p.Glu1711Gln)
n.1013G>C
11g.70473261C>TCA381676271SHANK2c.3391G>A (p.Glu1131Lys)
c.936G>A (n.936G>A)
c.5158G>A (p.Glu1720Lys)
c.2667G>A
c.4021G>A (p.Glu1341Lys)
c.3448G>A (p.Glu1150Lys)
c.3394G>A (p.Glu1132Lys)
c.*162G>A (n.*162G>A)
c.3370G>A (p.Glu1124Lys)
c.934G>A
c.2995G>A (p.Glu999Lys)
n.1910G>A
n.1012G>A
c.5128G>A (p.Glu1710Lys)
c.5170G>A (p.Glu1724Lys)
c.5149G>A (p.Glu1717Lys)
c.5143G>A (p.Glu1715Lys)
c.5122G>A (p.Glu1708Lys)
c.4033G>A (p.Glu1345Lys)
c.5131G>A (p.Glu1711Lys)
n.1013G>A
11g.70473262T>ACA381676273SHANK2c.3390A>T (p.Lys1130Asn)
c.935A>T (n.935A>T)
c.5157A>T (p.Lys1719Asn)
c.2666A>T
c.4020A>T (p.Lys1340Asn)
c.3447A>T (p.Lys1149Asn)
c.3393A>T (p.Lys1131Asn)
c.*161A>T (n.*161A>T)
c.3369A>T (p.Lys1123Asn)
c.933A>T
c.2994A>T (p.Lys998Asn)
n.1909A>T
n.1011A>T
c.5127A>T (p.Lys1709Asn)
c.5169A>T (p.Lys1723Asn)
c.5148A>T (p.Lys1716Asn)
c.5142A>T (p.Lys1714Asn)
c.5121A>T (p.Lys1707Asn)
c.4032A>T (p.Lys1344Asn)
c.5130A>T (p.Lys1710Asn)
n.1012A>T
11g.70473262T>CCA475470701SHANK2c.3390A>G (p.Lys1130=)
c.935A>G (n.935A>G)
c.5157A>G (p.Lys1719=)
c.2666A>G
c.4020A>G (p.Lys1340=)
c.3447A>G (p.Lys1149=)
c.3393A>G (p.Lys1131=)
c.*161A>G (n.*161A>G)
c.3369A>G (p.Lys1123=)
c.933A>G
c.2994A>G (p.Lys998=)
n.1909A>G
n.1011A>G
c.5127A>G (p.Lys1709=)
c.5169A>G (p.Lys1723=)
c.5148A>G (p.Lys1716=)
c.5142A>G (p.Lys1714=)
c.5121A>G (p.Lys1707=)
c.4032A>G (p.Lys1344=)
c.5130A>G (p.Lys1710=)
n.1012A>G
11g.70473262T>GCA381676274SHANK2c.3390A>C (p.Lys1130Asn)
c.935A>C (n.935A>C)
c.5157A>C (p.Lys1719Asn)
c.2666A>C
c.4020A>C (p.Lys1340Asn)
c.3447A>C (p.Lys1149Asn)
c.3393A>C (p.Lys1131Asn)
c.*161A>C (n.*161A>C)
c.3369A>C (p.Lys1123Asn)
c.933A>C
c.2994A>C (p.Lys998Asn)
n.1909A>C
n.1011A>C
c.5127A>C (p.Lys1709Asn)
c.5169A>C (p.Lys1723Asn)
c.5148A>C (p.Lys1716Asn)
c.5142A>C (p.Lys1714Asn)
c.5121A>C (p.Lys1707Asn)
c.4032A>C (p.Lys1344Asn)
c.5130A>C (p.Lys1710Asn)
n.1012A>C
11g.70473263T>ACA381676275SHANK2c.3389A>T (p.Lys1130Ile)
c.934A>T (n.934A>T)
c.5156A>T (p.Lys1719Ile)
c.2665A>T
c.4019A>T (p.Lys1340Ile)
c.3446A>T (p.Lys1149Ile)
c.3392A>T (p.Lys1131Ile)
c.*160A>T (n.*160A>T)
c.3368A>T (p.Lys1123Ile)
c.932A>T
c.2993A>T (p.Lys998Ile)
n.1908A>T
n.1010A>T
c.5126A>T (p.Lys1709Ile)
c.5168A>T (p.Lys1723Ile)
c.5147A>T (p.Lys1716Ile)
c.5141A>T (p.Lys1714Ile)
c.5120A>T (p.Lys1707Ile)
c.4031A>T (p.Lys1344Ile)
c.5129A>T (p.Lys1710Ile)
n.1011A>T
11g.70473263T>CCA381676276SHANK2c.3389A>G (p.Lys1130Arg)
c.934A>G (n.934A>G)
c.5156A>G (p.Lys1719Arg)
c.2665A>G
c.4019A>G (p.Lys1340Arg)
c.3446A>G (p.Lys1149Arg)
c.3392A>G (p.Lys1131Arg)
c.*160A>G (n.*160A>G)
c.3368A>G (p.Lys1123Arg)
c.932A>G
c.2993A>G (p.Lys998Arg)
n.1908A>G
n.1010A>G
c.5126A>G (p.Lys1709Arg)
c.5168A>G (p.Lys1723Arg)
c.5147A>G (p.Lys1716Arg)
c.5141A>G (p.Lys1714Arg)
c.5120A>G (p.Lys1707Arg)
c.4031A>G (p.Lys1344Arg)
c.5129A>G (p.Lys1710Arg)
n.1011A>G
11g.70473263T>GCA6160758SHANK2c.3389A>C (p.Lys1130Thr)
c.934A>C (n.934A>C)
c.5156A>C (p.Lys1719Thr)
c.2665A>C
c.4019A>C (p.Lys1340Thr)
c.3446A>C (p.Lys1149Thr)
c.3392A>C (p.Lys1131Thr)
c.*160A>C (n.*160A>C)
c.3368A>C (p.Lys1123Thr)
c.932A>C
c.2993A>C (p.Lys998Thr)
n.1908A>C
n.1010A>C
c.5126A>C (p.Lys1709Thr)
c.5168A>C (p.Lys1723Thr)
c.5147A>C (p.Lys1716Thr)
c.5141A>C (p.Lys1714Thr)
c.5120A>C (p.Lys1707Thr)
c.4031A>C (p.Lys1344Thr)
c.5129A>C (p.Lys1710Thr)
n.1011A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473263T=CA1981067972SHANK2c.3389A= (p.Lys1130=)
c.934A= (n.934A=)
c.5156A= (p.Lys1719=)
c.2665A=
c.4019A= (p.Lys1340=)
c.3446A= (p.Lys1149=)
c.3392A= (p.Lys1131=)
c.*160A= (n.*160A=)
c.3368A= (p.Lys1123=)
c.932A=
c.2993A= (p.Lys998=)
n.1908A=
n.1010A=
c.5126A= (p.Lys1709=)
c.5168A= (p.Lys1723=)
c.5147A= (p.Lys1716=)
c.5141A= (p.Lys1714=)
c.5120A= (p.Lys1707=)
c.4031A= (p.Lys1344=)
c.5129A= (p.Lys1710=)
n.1011A=
11g.70473264T>ACA381676277SHANK2c.3388A>T (p.Lys1130Ter)
c.933A>T (n.933A>T)
c.5155A>T (p.Lys1719Ter)
c.2664A>T
c.4018A>T (p.Lys1340Ter)
c.3445A>T (p.Lys1149Ter)
c.3391A>T (p.Lys1131Ter)
c.*159A>T (n.*159A>T)
c.3367A>T (p.Lys1123Ter)
c.931A>T
c.2992A>T (p.Lys998Ter)
n.1907A>T
n.1009A>T
c.5125A>T (p.Lys1709Ter)
c.5167A>T (p.Lys1723Ter)
c.5146A>T (p.Lys1716Ter)
c.5140A>T (p.Lys1714Ter)
c.5119A>T (p.Lys1707Ter)
c.4030A>T (p.Lys1344Ter)
c.5128A>T (p.Lys1710Ter)
n.1010A>T
11g.70473264T>CCA381676278SHANK2c.3388A>G (p.Lys1130Glu)
c.933A>G (n.933A>G)
c.5155A>G (p.Lys1719Glu)
c.2664A>G
c.4018A>G (p.Lys1340Glu)
c.3445A>G (p.Lys1149Glu)
c.3391A>G (p.Lys1131Glu)
c.*159A>G (n.*159A>G)
c.3367A>G (p.Lys1123Glu)
c.931A>G
c.2992A>G (p.Lys998Glu)
n.1907A>G
n.1009A>G
c.5125A>G (p.Lys1709Glu)
c.5167A>G (p.Lys1723Glu)
c.5146A>G (p.Lys1716Glu)
c.5140A>G (p.Lys1714Glu)
c.5119A>G (p.Lys1707Glu)
c.4030A>G (p.Lys1344Glu)
c.5128A>G (p.Lys1710Glu)
n.1010A>G
11g.70473264T>GCA381676279SHANK2c.3388A>C (p.Lys1130Gln)
c.933A>C (n.933A>C)
c.5155A>C (p.Lys1719Gln)
c.2664A>C
c.4018A>C (p.Lys1340Gln)
c.3445A>C (p.Lys1149Gln)
c.3391A>C (p.Lys1131Gln)
c.*159A>C (n.*159A>C)
c.3367A>C (p.Lys1123Gln)
c.931A>C
c.2992A>C (p.Lys998Gln)
n.1907A>C
n.1009A>C
c.5125A>C (p.Lys1709Gln)
c.5167A>C (p.Lys1723Gln)
c.5146A>C (p.Lys1716Gln)
c.5140A>C (p.Lys1714Gln)
c.5119A>C (p.Lys1707Gln)
c.4030A>C (p.Lys1344Gln)
c.5128A>C (p.Lys1710Gln)
n.1010A>C
 dbSNP gnomAD v3 gnomAD v4
11g.70473264T=CA1981067973SHANK2c.3388A= (p.Lys1130=)
c.933A= (n.933A=)
c.5155A= (p.Lys1719=)
c.2664A=
c.4018A= (p.Lys1340=)
c.3445A= (p.Lys1149=)
c.3391A= (p.Lys1131=)
c.*159A= (n.*159A=)
c.3367A= (p.Lys1123=)
c.931A=
c.2992A= (p.Lys998=)
n.1907A=
n.1009A=
c.5125A= (p.Lys1709=)
c.5167A= (p.Lys1723=)
c.5146A= (p.Lys1716=)
c.5140A= (p.Lys1714=)
c.5119A= (p.Lys1707=)
c.4030A= (p.Lys1344=)
c.5128A= (p.Lys1710=)
n.1010A=
11g.70473265G>ACA475470704SHANK2c.3387C>T (p.Asn1129=)
c.932C>T (n.932C>T)
c.5154C>T (p.Asn1718=)
c.2663C>T
c.4017C>T (p.Asn1339=)
c.3444C>T (p.Asn1148=)
c.3390C>T (p.Asn1130=)
c.*158C>T (n.*158C>T)
c.3366C>T (p.Asn1122=)
c.930C>T
c.2991C>T (p.Asn997=)
n.1906C>T
n.1008C>T
c.5124C>T (p.Asn1708=)
c.5166C>T (p.Asn1722=)
c.5145C>T (p.Asn1715=)
c.5139C>T (p.Asn1713=)
c.5118C>T (p.Asn1706=)
c.4029C>T (p.Asn1343=)
c.5127C>T (p.Asn1709=)
n.1009C>T
 gnomAD v4
11g.70473265G>CCA381676280SHANK2c.3387C>G (p.Asn1129Lys)
c.932C>G (n.932C>G)
c.5154C>G (p.Asn1718Lys)
c.2663C>G
c.4017C>G (p.Asn1339Lys)
c.3444C>G (p.Asn1148Lys)
c.3390C>G (p.Asn1130Lys)
c.*158C>G (n.*158C>G)
c.3366C>G (p.Asn1122Lys)
c.930C>G
c.2991C>G (p.Asn997Lys)
n.1906C>G
n.1008C>G
c.5124C>G (p.Asn1708Lys)
c.5166C>G (p.Asn1722Lys)
c.5145C>G (p.Asn1715Lys)
c.5139C>G (p.Asn1713Lys)
c.5118C>G (p.Asn1706Lys)
c.4029C>G (p.Asn1343Lys)
c.5127C>G (p.Asn1709Lys)
n.1009C>G
11g.70473265G=CA1981067974SHANK2c.3387C= (p.Asn1129=)
c.932C= (n.932C=)
c.5154C= (p.Asn1718=)
c.2663C=
c.4017C= (p.Asn1339=)
c.3444C= (p.Asn1148=)
c.3390C= (p.Asn1130=)
c.*158C= (n.*158C=)
c.3366C= (p.Asn1122=)
c.930C=
c.2991C= (p.Asn997=)
n.1906C=
n.1008C=
c.5124C= (p.Asn1708=)
c.5166C= (p.Asn1722=)
c.5145C= (p.Asn1715=)
c.5139C= (p.Asn1713=)
c.5118C= (p.Asn1706=)
c.4029C= (p.Asn1343=)
c.5127C= (p.Asn1709=)
n.1009C=
11g.70473265G>TCA6160759SHANK2c.3387C>A (p.Asn1129Lys)
c.932C>A (n.932C>A)
c.5154C>A (p.Asn1718Lys)
c.2663C>A
c.4017C>A (p.Asn1339Lys)
c.3444C>A (p.Asn1148Lys)
c.3390C>A (p.Asn1130Lys)
c.*158C>A (n.*158C>A)
c.3366C>A (p.Asn1122Lys)
c.930C>A
c.2991C>A (p.Asn997Lys)
n.1906C>A
n.1008C>A
c.5124C>A (p.Asn1708Lys)
c.5166C>A (p.Asn1722Lys)
c.5145C>A (p.Asn1715Lys)
c.5139C>A (p.Asn1713Lys)
c.5118C>A (p.Asn1706Lys)
c.4029C>A (p.Asn1343Lys)
c.5127C>A (p.Asn1709Lys)
n.1009C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473266T>ACA381676282SHANK2c.3386A>T (p.Asn1129Ile)
c.931A>T (n.931A>T)
c.5153A>T (p.Asn1718Ile)
c.2662A>T
c.4016A>T (p.Asn1339Ile)
c.3443A>T (p.Asn1148Ile)
c.3389A>T (p.Asn1130Ile)
c.*157A>T (n.*157A>T)
c.3365A>T (p.Asn1122Ile)
c.929A>T
c.2990A>T (p.Asn997Ile)
n.1905A>T
n.1007A>T
c.5123A>T (p.Asn1708Ile)
c.5165A>T (p.Asn1722Ile)
c.5144A>T (p.Asn1715Ile)
c.5138A>T (p.Asn1713Ile)
c.5117A>T (p.Asn1706Ile)
c.4028A>T (p.Asn1343Ile)
c.5126A>T (p.Asn1709Ile)
n.1008A>T
11g.70473266T>CCA381676283SHANK2c.3386A>G (p.Asn1129Ser)
c.931A>G (n.931A>G)
c.5153A>G (p.Asn1718Ser)
c.2662A>G
c.4016A>G (p.Asn1339Ser)
c.3443A>G (p.Asn1148Ser)
c.3389A>G (p.Asn1130Ser)
c.*157A>G (n.*157A>G)
c.3365A>G (p.Asn1122Ser)
c.929A>G
c.2990A>G (p.Asn997Ser)
n.1905A>G
n.1007A>G
c.5123A>G (p.Asn1708Ser)
c.5165A>G (p.Asn1722Ser)
c.5144A>G (p.Asn1715Ser)
c.5138A>G (p.Asn1713Ser)
c.5117A>G (p.Asn1706Ser)
c.4028A>G (p.Asn1343Ser)
c.5126A>G (p.Asn1709Ser)
n.1008A>G
11g.70473266T>GCA381676281SHANK2c.3386A>C (p.Asn1129Thr)
c.931A>C (n.931A>C)
c.5153A>C (p.Asn1718Thr)
c.2662A>C
c.4016A>C (p.Asn1339Thr)
c.3443A>C (p.Asn1148Thr)
c.3389A>C (p.Asn1130Thr)
c.*157A>C (n.*157A>C)
c.3365A>C (p.Asn1122Thr)
c.929A>C
c.2990A>C (p.Asn997Thr)
n.1905A>C
n.1007A>C
c.5123A>C (p.Asn1708Thr)
c.5165A>C (p.Asn1722Thr)
c.5144A>C (p.Asn1715Thr)
c.5138A>C (p.Asn1713Thr)
c.5117A>C (p.Asn1706Thr)
c.4028A>C (p.Asn1343Thr)
c.5126A>C (p.Asn1709Thr)
n.1008A>C
11g.70473267T>ACA381676284SHANK2c.3385A>T (p.Asn1129Tyr)
c.930A>T (n.930A>T)
c.5152A>T (p.Asn1718Tyr)
c.2661A>T
c.4015A>T (p.Asn1339Tyr)
c.3442A>T (p.Asn1148Tyr)
c.3388A>T (p.Asn1130Tyr)
c.*156A>T (n.*156A>T)
c.3364A>T (p.Asn1122Tyr)
c.928A>T
c.2989A>T (p.Asn997Tyr)
n.1904A>T
n.1006A>T
c.5122A>T (p.Asn1708Tyr)
c.5164A>T (p.Asn1722Tyr)
c.5143A>T (p.Asn1715Tyr)
c.5137A>T (p.Asn1713Tyr)
c.5116A>T (p.Asn1706Tyr)
c.4027A>T (p.Asn1343Tyr)
c.5125A>T (p.Asn1709Tyr)
n.1007A>T
11g.70473267T>CCA381676285SHANK2c.3385A>G (p.Asn1129Asp)
c.930A>G (n.930A>G)
c.5152A>G (p.Asn1718Asp)
c.2661A>G
c.4015A>G (p.Asn1339Asp)
c.3442A>G (p.Asn1148Asp)
c.3388A>G (p.Asn1130Asp)
c.*156A>G (n.*156A>G)
c.3364A>G (p.Asn1122Asp)
c.928A>G
c.2989A>G (p.Asn997Asp)
n.1904A>G
n.1006A>G
c.5122A>G (p.Asn1708Asp)
c.5164A>G (p.Asn1722Asp)
c.5143A>G (p.Asn1715Asp)
c.5137A>G (p.Asn1713Asp)
c.5116A>G (p.Asn1706Asp)
c.4027A>G (p.Asn1343Asp)
c.5125A>G (p.Asn1709Asp)
n.1007A>G
11g.70473267T>GCA381676286SHANK2c.3385A>C (p.Asn1129His)
c.930A>C (n.930A>C)
c.5152A>C (p.Asn1718His)
c.2661A>C
c.4015A>C (p.Asn1339His)
c.3442A>C (p.Asn1148His)
c.3388A>C (p.Asn1130His)
c.*156A>C (n.*156A>C)
c.3364A>C (p.Asn1122His)
c.928A>C
c.2989A>C (p.Asn997His)
n.1904A>C
n.1006A>C
c.5122A>C (p.Asn1708His)
c.5164A>C (p.Asn1722His)
c.5143A>C (p.Asn1715His)
c.5137A>C (p.Asn1713His)
c.5116A>C (p.Asn1706His)
c.4027A>C (p.Asn1343His)
c.5125A>C (p.Asn1709His)
n.1007A>C
11g.70473268C>ACA381676287SHANK2c.3384G>T (p.Met1128Ile)
c.929G>T (n.929G>T)
c.5151G>T (p.Met1717Ile)
c.2660G>T
c.4014G>T (p.Met1338Ile)
c.3441G>T (p.Met1147Ile)
c.3387G>T (p.Met1129Ile)
c.*155G>T (n.*155G>T)
c.3363G>T (p.Met1121Ile)
c.927G>T
c.2988G>T (p.Met996Ile)
n.1903G>T
n.1005G>T
c.5121G>T (p.Met1707Ile)
c.5163G>T (p.Met1721Ile)
c.5142G>T (p.Met1714Ile)
c.5136G>T (p.Met1712Ile)
c.5115G>T (p.Met1705Ile)
c.4026G>T (p.Met1342Ile)
c.5124G>T (p.Met1708Ile)
n.1006G>T
11g.70473268C=CA1981067975SHANK2c.3384G= (p.Met1128=)
c.929G= (n.929G=)
c.5151G= (p.Met1717=)
c.2660G=
c.4014G= (p.Met1338=)
c.3441G= (p.Met1147=)
c.3387G= (p.Met1129=)
c.*155G= (n.*155G=)
c.3363G= (p.Met1121=)
c.927G=
c.2988G= (p.Met996=)
n.1903G=
n.1005G=
c.5121G= (p.Met1707=)
c.5163G= (p.Met1721=)
c.5142G= (p.Met1714=)
c.5136G= (p.Met1712=)
c.5115G= (p.Met1705=)
c.4026G= (p.Met1342=)
c.5124G= (p.Met1708=)
n.1006G=
11g.70473268C>GCA6160760SHANK2c.3384G>C (p.Met1128Ile)
c.929G>C (n.929G>C)
c.5151G>C (p.Met1717Ile)
c.2660G>C
c.4014G>C (p.Met1338Ile)
c.3441G>C (p.Met1147Ile)
c.3387G>C (p.Met1129Ile)
c.*155G>C (n.*155G>C)
c.3363G>C (p.Met1121Ile)
c.927G>C
c.2988G>C (p.Met996Ile)
n.1903G>C
n.1005G>C
c.5121G>C (p.Met1707Ile)
c.5163G>C (p.Met1721Ile)
c.5142G>C (p.Met1714Ile)
c.5136G>C (p.Met1712Ile)
c.5115G>C (p.Met1705Ile)
c.4026G>C (p.Met1342Ile)
c.5124G>C (p.Met1708Ile)
n.1006G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473268C>TCA214637SHANK2c.3384G>A (p.Met1128Ile)
c.929G>A (n.929G>A)
c.5151G>A (p.Met1717Ile)
c.2660G>A
c.4014G>A (p.Met1338Ile)
c.3441G>A (p.Met1147Ile)
c.3387G>A (p.Met1129Ile)
c.*155G>A (n.*155G>A)
c.3363G>A (p.Met1121Ile)
c.927G>A
c.2988G>A (p.Met996Ile)
n.1903G>A
n.1005G>A
c.5121G>A (p.Met1707Ile)
c.5163G>A (p.Met1721Ile)
c.5142G>A (p.Met1714Ile)
c.5136G>A (p.Met1712Ile)
c.5115G>A (p.Met1705Ile)
c.4026G>A (p.Met1342Ile)
c.5124G>A (p.Met1708Ile)
n.1006G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473269A>CCA381676290SHANK2c.3383T>G (p.Met1128Arg)
c.928T>G (n.928T>G)
c.5150T>G (p.Met1717Arg)
c.2659T>G
c.4013T>G (p.Met1338Arg)
c.3440T>G (p.Met1147Arg)
c.3386T>G (p.Met1129Arg)
c.*154T>G (n.*154T>G)
c.3362T>G (p.Met1121Arg)
c.926T>G
c.2987T>G (p.Met996Arg)
n.1902T>G
n.1004T>G
c.5120T>G (p.Met1707Arg)
c.5162T>G (p.Met1721Arg)
c.5141T>G (p.Met1714Arg)
c.5135T>G (p.Met1712Arg)
c.5114T>G (p.Met1705Arg)
c.4025T>G (p.Met1342Arg)
c.5123T>G (p.Met1708Arg)
n.1005T>G
11g.70473269A>GCA381676288SHANK2c.3383T>C (p.Met1128Thr)
c.928T>C (n.928T>C)
c.5150T>C (p.Met1717Thr)
c.2659T>C
c.4013T>C (p.Met1338Thr)
c.3440T>C (p.Met1147Thr)
c.3386T>C (p.Met1129Thr)
c.*154T>C (n.*154T>C)
c.3362T>C (p.Met1121Thr)
c.926T>C
c.2987T>C (p.Met996Thr)
n.1902T>C
n.1004T>C
c.5120T>C (p.Met1707Thr)
c.5162T>C (p.Met1721Thr)
c.5141T>C (p.Met1714Thr)
c.5135T>C (p.Met1712Thr)
c.5114T>C (p.Met1705Thr)
c.4025T>C (p.Met1342Thr)
c.5123T>C (p.Met1708Thr)
n.1005T>C
11g.70473269A>TCA381676289SHANK2c.3383T>A (p.Met1128Lys)
c.928T>A (n.928T>A)
c.5150T>A (p.Met1717Lys)
c.2659T>A
c.4013T>A (p.Met1338Lys)
c.3440T>A (p.Met1147Lys)
c.3386T>A (p.Met1129Lys)
c.*154T>A (n.*154T>A)
c.3362T>A (p.Met1121Lys)
c.926T>A
c.2987T>A (p.Met996Lys)
n.1902T>A
n.1004T>A
c.5120T>A (p.Met1707Lys)
c.5162T>A (p.Met1721Lys)
c.5141T>A (p.Met1714Lys)
c.5135T>A (p.Met1712Lys)
c.5114T>A (p.Met1705Lys)
c.4025T>A (p.Met1342Lys)
c.5123T>A (p.Met1708Lys)
n.1005T>A
 gnomAD v4
11g.70473270T>ACA381676291SHANK2c.3382A>T (p.Met1128Leu)
c.927A>T (n.927A>T)
c.5149A>T (p.Met1717Leu)
c.2658A>T
c.4012A>T (p.Met1338Leu)
c.3439A>T (p.Met1147Leu)
c.3385A>T (p.Met1129Leu)
c.*153A>T (n.*153A>T)
c.3361A>T (p.Met1121Leu)
c.925A>T
c.2986A>T (p.Met996Leu)
n.1901A>T
n.1003A>T
c.5119A>T (p.Met1707Leu)
c.5161A>T (p.Met1721Leu)
c.5140A>T (p.Met1714Leu)
c.5134A>T (p.Met1712Leu)
c.5113A>T (p.Met1705Leu)
c.4024A>T (p.Met1342Leu)
c.5122A>T (p.Met1708Leu)
n.1004A>T
11g.70473270T>CCA381676292SHANK2c.3382A>G (p.Met1128Val)
c.927A>G (n.927A>G)
c.5149A>G (p.Met1717Val)
c.2658A>G
c.4012A>G (p.Met1338Val)
c.3439A>G (p.Met1147Val)
c.3385A>G (p.Met1129Val)
c.*153A>G (n.*153A>G)
c.3361A>G (p.Met1121Val)
c.925A>G
c.2986A>G (p.Met996Val)
n.1901A>G
n.1003A>G
c.5119A>G (p.Met1707Val)
c.5161A>G (p.Met1721Val)
c.5140A>G (p.Met1714Val)
c.5134A>G (p.Met1712Val)
c.5113A>G (p.Met1705Val)
c.4024A>G (p.Met1342Val)
c.5122A>G (p.Met1708Val)
n.1004A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473270T>GCA381676293SHANK2c.3382A>C (p.Met1128Leu)
c.927A>C (n.927A>C)
c.5149A>C (p.Met1717Leu)
c.2658A>C
c.4012A>C (p.Met1338Leu)
c.3439A>C (p.Met1147Leu)
c.3385A>C (p.Met1129Leu)
c.*153A>C (n.*153A>C)
c.3361A>C (p.Met1121Leu)
c.925A>C
c.2986A>C (p.Met996Leu)
n.1901A>C
n.1003A>C
c.5119A>C (p.Met1707Leu)
c.5161A>C (p.Met1721Leu)
c.5140A>C (p.Met1714Leu)
c.5134A>C (p.Met1712Leu)
c.5113A>C (p.Met1705Leu)
c.4024A>C (p.Met1342Leu)
c.5122A>C (p.Met1708Leu)
n.1004A>C
11g.70473270T=CA1981067976SHANK2c.3382A= (p.Met1128=)
c.927A= (n.927A=)
c.5149A= (p.Met1717=)
c.2658A=
c.4012A= (p.Met1338=)
c.3439A= (p.Met1147=)
c.3385A= (p.Met1129=)
c.*153A= (n.*153A=)
c.3361A= (p.Met1121=)
c.925A=
c.2986A= (p.Met996=)
n.1901A=
n.1003A=
c.5119A= (p.Met1707=)
c.5161A= (p.Met1721=)
c.5140A= (p.Met1714=)
c.5134A= (p.Met1712=)
c.5113A= (p.Met1705=)
c.4024A= (p.Met1342=)
c.5122A= (p.Met1708=)
n.1004A=
11g.70473271C>ACA6160761SHANK2c.3381G>T (p.Glu1127Asp)
c.926G>T (n.926G>T)
c.5148G>T (p.Glu1716Asp)
c.2657G>T
c.4011G>T (p.Glu1337Asp)
c.3438G>T (p.Glu1146Asp)
c.3384G>T (p.Glu1128Asp)
c.*152G>T (n.*152G>T)
c.3360G>T (p.Glu1120Asp)
c.924G>T
c.2985G>T (p.Glu995Asp)
n.1900G>T
n.1002G>T
c.5118G>T (p.Glu1706Asp)
c.5160G>T (p.Glu1720Asp)
c.5139G>T (p.Glu1713Asp)
c.5133G>T (p.Glu1711Asp)
c.5112G>T (p.Glu1704Asp)
c.4023G>T (p.Glu1341Asp)
c.5121G>T (p.Glu1707Asp)
n.1003G>T
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.70473271C=CA1981067977SHANK2c.3381G= (p.Glu1127=)
c.926G= (n.926G=)
c.5148G= (p.Glu1716=)
c.2657G=
c.4011G= (p.Glu1337=)
c.3438G= (p.Glu1146=)
c.3384G= (p.Glu1128=)
c.*152G= (n.*152G=)
c.3360G= (p.Glu1120=)
c.924G=
c.2985G= (p.Glu995=)
n.1900G=
n.1002G=
c.5118G= (p.Glu1706=)
c.5160G= (p.Glu1720=)
c.5139G= (p.Glu1713=)
c.5133G= (p.Glu1711=)
c.5112G= (p.Glu1704=)
c.4023G= (p.Glu1341=)
c.5121G= (p.Glu1707=)
n.1003G=
11g.70473271C>GCA381676294SHANK2c.3381G>C (p.Glu1127Asp)
c.926G>C (n.926G>C)
c.5148G>C (p.Glu1716Asp)
c.2657G>C
c.4011G>C (p.Glu1337Asp)
c.3438G>C (p.Glu1146Asp)
c.3384G>C (p.Glu1128Asp)
c.*152G>C (n.*152G>C)
c.3360G>C (p.Glu1120Asp)
c.924G>C
c.2985G>C (p.Glu995Asp)
n.1900G>C
n.1002G>C
c.5118G>C (p.Glu1706Asp)
c.5160G>C (p.Glu1720Asp)
c.5139G>C (p.Glu1713Asp)
c.5133G>C (p.Glu1711Asp)
c.5112G>C (p.Glu1704Asp)
c.4023G>C (p.Glu1341Asp)
c.5121G>C (p.Glu1707Asp)
n.1003G>C
11g.70473271C>TCA475470705SHANK2c.3381G>A (p.Glu1127=)
c.926G>A (n.926G>A)
c.5148G>A (p.Glu1716=)
c.2657G>A
c.4011G>A (p.Glu1337=)
c.3438G>A (p.Glu1146=)
c.3384G>A (p.Glu1128=)
c.*152G>A (n.*152G>A)
c.3360G>A (p.Glu1120=)
c.924G>A
c.2985G>A (p.Glu995=)
n.1900G>A
n.1002G>A
c.5118G>A (p.Glu1706=)
c.5160G>A (p.Glu1720=)
c.5139G>A (p.Glu1713=)
c.5133G>A (p.Glu1711=)
c.5112G>A (p.Glu1704=)
c.4023G>A (p.Glu1341=)
c.5121G>A (p.Glu1707=)
n.1003G>A
 dbSNP gnomAD v4
11g.70473272T>ACA381676295SHANK2c.3380A>T (p.Glu1127Val)
c.925A>T (n.925A>T)
c.5147A>T (p.Glu1716Val)
c.2656A>T
c.4010A>T (p.Glu1337Val)
c.3437A>T (p.Glu1146Val)
c.3383A>T (p.Glu1128Val)
c.*151A>T (n.*151A>T)
c.3359A>T (p.Glu1120Val)
c.923A>T
c.2984A>T (p.Glu995Val)
n.1899A>T
n.1001A>T
c.5117A>T (p.Glu1706Val)
c.5159A>T (p.Glu1720Val)
c.5138A>T (p.Glu1713Val)
c.5132A>T (p.Glu1711Val)
c.5111A>T (p.Glu1704Val)
c.4022A>T (p.Glu1341Val)
c.5120A>T (p.Glu1707Val)
n.1002A>T
11g.70473272T>CCA381676297SHANK2c.3380A>G (p.Glu1127Gly)
c.925A>G (n.925A>G)
c.5147A>G (p.Glu1716Gly)
c.2656A>G
c.4010A>G (p.Glu1337Gly)
c.3437A>G (p.Glu1146Gly)
c.3383A>G (p.Glu1128Gly)
c.*151A>G (n.*151A>G)
c.3359A>G (p.Glu1120Gly)
c.923A>G
c.2984A>G (p.Glu995Gly)
n.1899A>G
n.1001A>G
c.5117A>G (p.Glu1706Gly)
c.5159A>G (p.Glu1720Gly)
c.5138A>G (p.Glu1713Gly)
c.5132A>G (p.Glu1711Gly)
c.5111A>G (p.Glu1704Gly)
c.4022A>G (p.Glu1341Gly)
c.5120A>G (p.Glu1707Gly)
n.1002A>G
11g.70473272T>GCA381676296SHANK2c.3380A>C (p.Glu1127Ala)
c.925A>C (n.925A>C)
c.5147A>C (p.Glu1716Ala)
c.2656A>C
c.4010A>C (p.Glu1337Ala)
c.3437A>C (p.Glu1146Ala)
c.3383A>C (p.Glu1128Ala)
c.*151A>C (n.*151A>C)
c.3359A>C (p.Glu1120Ala)
c.923A>C
c.2984A>C (p.Glu995Ala)
n.1899A>C
n.1001A>C
c.5117A>C (p.Glu1706Ala)
c.5159A>C (p.Glu1720Ala)
c.5138A>C (p.Glu1713Ala)
c.5132A>C (p.Glu1711Ala)
c.5111A>C (p.Glu1704Ala)
c.4022A>C (p.Glu1341Ala)
c.5120A>C (p.Glu1707Ala)
n.1002A>C
11g.70473273C>ACA381676298SHANK2c.3379G>T (p.Glu1127Ter)
c.924G>T (n.924G>T)
c.5146G>T (p.Glu1716Ter)
c.2655G>T
c.4009G>T (p.Glu1337Ter)
c.3436G>T (p.Glu1146Ter)
c.3382G>T (p.Glu1128Ter)
c.*150G>T (n.*150G>T)
c.3358G>T (p.Glu1120Ter)
c.922G>T
c.2983G>T (p.Glu995Ter)
n.1898G>T
n.1000G>T
c.5116G>T (p.Glu1706Ter)
c.5158G>T (p.Glu1720Ter)
c.5137G>T (p.Glu1713Ter)
c.5131G>T (p.Glu1711Ter)
c.5110G>T (p.Glu1704Ter)
c.4021G>T (p.Glu1341Ter)
c.5119G>T (p.Glu1707Ter)
n.1001G>T
11g.70473273C>GCA381676299SHANK2c.3379G>C (p.Glu1127Gln)
c.924G>C (n.924G>C)
c.5146G>C (p.Glu1716Gln)
c.2655G>C
c.4009G>C (p.Glu1337Gln)
c.3436G>C (p.Glu1146Gln)
c.3382G>C (p.Glu1128Gln)
c.*150G>C (n.*150G>C)
c.3358G>C (p.Glu1120Gln)
c.922G>C
c.2983G>C (p.Glu995Gln)
n.1898G>C
n.1000G>C
c.5116G>C (p.Glu1706Gln)
c.5158G>C (p.Glu1720Gln)
c.5137G>C (p.Glu1713Gln)
c.5131G>C (p.Glu1711Gln)
c.5110G>C (p.Glu1704Gln)
c.4021G>C (p.Glu1341Gln)
c.5119G>C (p.Glu1707Gln)
n.1001G>C
 gnomAD v4
11g.70473273C>TCA381676300SHANK2c.3379G>A (p.Glu1127Lys)
c.924G>A (n.924G>A)
c.5146G>A (p.Glu1716Lys)
c.2655G>A
c.4009G>A (p.Glu1337Lys)
c.3436G>A (p.Glu1146Lys)
c.3382G>A (p.Glu1128Lys)
c.*150G>A (n.*150G>A)
c.3358G>A (p.Glu1120Lys)
c.922G>A
c.2983G>A (p.Glu995Lys)
n.1898G>A
n.1000G>A
c.5116G>A (p.Glu1706Lys)
c.5158G>A (p.Glu1720Lys)
c.5137G>A (p.Glu1713Lys)
c.5131G>A (p.Glu1711Lys)
c.5110G>A (p.Glu1704Lys)
c.4021G>A (p.Glu1341Lys)
c.5119G>A (p.Glu1707Lys)
n.1001G>A
11g.70473274T>ACA475470706SHANK2c.3378A>T (p.Thr1126=)
c.923A>T (n.923A>T)
c.5145A>T (p.Thr1715=)
c.2654A>T
c.4008A>T (p.Thr1336=)
c.3435A>T (p.Thr1145=)
c.3381A>T (p.Thr1127=)
c.*149A>T (n.*149A>T)
c.3357A>T (p.Thr1119=)
c.921A>T
c.2982A>T (p.Thr994=)
n.1897A>T
n.999A>T
c.5115A>T (p.Thr1705=)
c.5157A>T (p.Thr1719=)
c.5136A>T (p.Thr1712=)
c.5130A>T (p.Thr1710=)
c.5109A>T (p.Thr1703=)
c.4020A>T (p.Thr1340=)
c.5118A>T (p.Thr1706=)
n.1000A>T
11g.70473274T>CCA475470707SHANK2c.3378A>G (p.Thr1126=)
c.923A>G (n.923A>G)
c.5145A>G (p.Thr1715=)
c.2654A>G
c.4008A>G (p.Thr1336=)
c.3435A>G (p.Thr1145=)
c.3381A>G (p.Thr1127=)
c.*149A>G (n.*149A>G)
c.3357A>G (p.Thr1119=)
c.921A>G
c.2982A>G (p.Thr994=)
n.1897A>G
n.999A>G
c.5115A>G (p.Thr1705=)
c.5157A>G (p.Thr1719=)
c.5136A>G (p.Thr1712=)
c.5130A>G (p.Thr1710=)
c.5109A>G (p.Thr1703=)
c.4020A>G (p.Thr1340=)
c.5118A>G (p.Thr1706=)
n.1000A>G
11g.70473274T>GCA475470708SHANK2c.3378A>C (p.Thr1126=)
c.923A>C (n.923A>C)
c.5145A>C (p.Thr1715=)
c.2654A>C
c.4008A>C (p.Thr1336=)
c.3435A>C (p.Thr1145=)
c.3381A>C (p.Thr1127=)
c.*149A>C (n.*149A>C)
c.3357A>C (p.Thr1119=)
c.921A>C
c.2982A>C (p.Thr994=)
n.1897A>C
n.999A>C
c.5115A>C (p.Thr1705=)
c.5157A>C (p.Thr1719=)
c.5136A>C (p.Thr1712=)
c.5130A>C (p.Thr1710=)
c.5109A>C (p.Thr1703=)
c.4020A>C (p.Thr1340=)
c.5118A>C (p.Thr1706=)
n.1000A>C
11g.70473275G>ACA381676301SHANK2c.3377C>T (p.Thr1126Ile)
c.922C>T (n.922C>T)
c.5144C>T (p.Thr1715Ile)
c.2653C>T
c.4007C>T (p.Thr1336Ile)
c.3434C>T (p.Thr1145Ile)
c.3380C>T (p.Thr1127Ile)
c.*148C>T (n.*148C>T)
c.3356C>T (p.Thr1119Ile)
c.920C>T
c.2981C>T (p.Thr994Ile)
n.1896C>T
n.998C>T
c.5114C>T (p.Thr1705Ile)
c.5156C>T (p.Thr1719Ile)
c.5135C>T (p.Thr1712Ile)
c.5129C>T (p.Thr1710Ile)
c.5108C>T (p.Thr1703Ile)
c.4019C>T (p.Thr1340Ile)
c.5117C>T (p.Thr1706Ile)
n.999C>T
 dbSNP gnomAD v3 gnomAD v4
11g.70473275G>CCA381676302SHANK2c.3377C>G (p.Thr1126Arg)
c.922C>G (n.922C>G)
c.5144C>G (p.Thr1715Arg)
c.2653C>G
c.4007C>G (p.Thr1336Arg)
c.3434C>G (p.Thr1145Arg)
c.3380C>G (p.Thr1127Arg)
c.*148C>G (n.*148C>G)
c.3356C>G (p.Thr1119Arg)
c.920C>G
c.2981C>G (p.Thr994Arg)
n.1896C>G
n.998C>G
c.5114C>G (p.Thr1705Arg)
c.5156C>G (p.Thr1719Arg)
c.5135C>G (p.Thr1712Arg)
c.5129C>G (p.Thr1710Arg)
c.5108C>G (p.Thr1703Arg)
c.4019C>G (p.Thr1340Arg)
c.5117C>G (p.Thr1706Arg)
n.999C>G
11g.70473275G=CA1981067978SHANK2c.3377C= (p.Thr1126=)
c.922C= (n.922C=)
c.5144C= (p.Thr1715=)
c.2653C=
c.4007C= (p.Thr1336=)
c.3434C= (p.Thr1145=)
c.3380C= (p.Thr1127=)
c.*148C= (n.*148C=)
c.3356C= (p.Thr1119=)
c.920C=
c.2981C= (p.Thr994=)
n.1896C=
n.998C=
c.5114C= (p.Thr1705=)
c.5156C= (p.Thr1719=)
c.5135C= (p.Thr1712=)
c.5129C= (p.Thr1710=)
c.5108C= (p.Thr1703=)
c.4019C= (p.Thr1340=)
c.5117C= (p.Thr1706=)
n.999C=
11g.70473275G>TCA381676303SHANK2c.3377C>A (p.Thr1126Lys)
c.922C>A (n.922C>A)
c.5144C>A (p.Thr1715Lys)
c.2653C>A
c.4007C>A (p.Thr1336Lys)
c.3434C>A (p.Thr1145Lys)
c.3380C>A (p.Thr1127Lys)
c.*148C>A (n.*148C>A)
c.3356C>A (p.Thr1119Lys)
c.920C>A
c.2981C>A (p.Thr994Lys)
n.1896C>A
n.998C>A
c.5114C>A (p.Thr1705Lys)
c.5156C>A (p.Thr1719Lys)
c.5135C>A (p.Thr1712Lys)
c.5129C>A (p.Thr1710Lys)
c.5108C>A (p.Thr1703Lys)
c.4019C>A (p.Thr1340Lys)
c.5117C>A (p.Thr1706Lys)
n.999C>A
11g.70473276T>ACA381676304SHANK2c.3376A>T (p.Thr1126Ser)
c.921A>T (n.921A>T)
c.5143A>T (p.Thr1715Ser)
c.2652A>T
c.4006A>T (p.Thr1336Ser)
c.3433A>T (p.Thr1145Ser)
c.3379A>T (p.Thr1127Ser)
c.*147A>T (n.*147A>T)
c.3355A>T (p.Thr1119Ser)
c.919A>T
c.2980A>T (p.Thr994Ser)
n.1895A>T
n.997A>T
c.5113A>T (p.Thr1705Ser)
c.5155A>T (p.Thr1719Ser)
c.5134A>T (p.Thr1712Ser)
c.5128A>T (p.Thr1710Ser)
c.5107A>T (p.Thr1703Ser)
c.4018A>T (p.Thr1340Ser)
c.5116A>T (p.Thr1706Ser)
n.998A>T
11g.70473276T>CCA381676305SHANK2c.3376A>G (p.Thr1126Ala)
c.921A>G (n.921A>G)
c.5143A>G (p.Thr1715Ala)
c.2652A>G
c.4006A>G (p.Thr1336Ala)
c.3433A>G (p.Thr1145Ala)
c.3379A>G (p.Thr1127Ala)
c.*147A>G (n.*147A>G)
c.3355A>G (p.Thr1119Ala)
c.919A>G
c.2980A>G (p.Thr994Ala)
n.1895A>G
n.997A>G
c.5113A>G (p.Thr1705Ala)
c.5155A>G (p.Thr1719Ala)
c.5134A>G (p.Thr1712Ala)
c.5128A>G (p.Thr1710Ala)
c.5107A>G (p.Thr1703Ala)
c.4018A>G (p.Thr1340Ala)
c.5116A>G (p.Thr1706Ala)
n.998A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473276T>GCA381676306SHANK2c.3376A>C (p.Thr1126Pro)
c.921A>C (n.921A>C)
c.5143A>C (p.Thr1715Pro)
c.2652A>C
c.4006A>C (p.Thr1336Pro)
c.3433A>C (p.Thr1145Pro)
c.3379A>C (p.Thr1127Pro)
c.*147A>C (n.*147A>C)
c.3355A>C (p.Thr1119Pro)
c.919A>C
c.2980A>C (p.Thr994Pro)
n.1895A>C
n.997A>C
c.5113A>C (p.Thr1705Pro)
c.5155A>C (p.Thr1719Pro)
c.5134A>C (p.Thr1712Pro)
c.5128A>C (p.Thr1710Pro)
c.5107A>C (p.Thr1703Pro)
c.4018A>C (p.Thr1340Pro)
c.5116A>C (p.Thr1706Pro)
n.998A>C
11g.70473276T=CA1981067979SHANK2c.3376A= (p.Thr1126=)
c.921A= (n.921A=)
c.5143A= (p.Thr1715=)
c.2652A=
c.4006A= (p.Thr1336=)
c.3433A= (p.Thr1145=)
c.3379A= (p.Thr1127=)
c.*147A= (n.*147A=)
c.3355A= (p.Thr1119=)
c.919A=
c.2980A= (p.Thr994=)
n.1895A=
n.997A=
c.5113A= (p.Thr1705=)
c.5155A= (p.Thr1719=)
c.5134A= (p.Thr1712=)
c.5128A= (p.Thr1710=)
c.5107A= (p.Thr1703=)
c.4018A= (p.Thr1340=)
c.5116A= (p.Thr1706=)
n.998A=
11g.70473277T>ACA475470709SHANK2c.3375A>T (p.Pro1125=)
c.920A>T (n.920A>T)
c.5142A>T (p.Pro1714=)
c.2651A>T
c.4005A>T (p.Pro1335=)
c.3432A>T (p.Pro1144=)
c.3378A>T (p.Pro1126=)
c.*146A>T (n.*146A>T)
c.3354A>T (p.Pro1118=)
c.918A>T
c.2979A>T (p.Pro993=)
n.1894A>T
n.996A>T
c.5112A>T (p.Pro1704=)
c.5154A>T (p.Pro1718=)
c.5133A>T (p.Pro1711=)
c.5127A>T (p.Pro1709=)
c.5106A>T (p.Pro1702=)
c.4017A>T (p.Pro1339=)
c.5115A>T (p.Pro1705=)
n.997A>T
11g.70473277T>CCA475470710SHANK2c.3375A>G (p.Pro1125=)
c.920A>G (n.920A>G)
c.5142A>G (p.Pro1714=)
c.2651A>G
c.4005A>G (p.Pro1335=)
c.3432A>G (p.Pro1144=)
c.3378A>G (p.Pro1126=)
c.*146A>G (n.*146A>G)
c.3354A>G (p.Pro1118=)
c.918A>G
c.2979A>G (p.Pro993=)
n.1894A>G
n.996A>G
c.5112A>G (p.Pro1704=)
c.5154A>G (p.Pro1718=)
c.5133A>G (p.Pro1711=)
c.5127A>G (p.Pro1709=)
c.5106A>G (p.Pro1702=)
c.4017A>G (p.Pro1339=)
c.5115A>G (p.Pro1705=)
n.997A>G
11g.70473277T>GCA475470711SHANK2c.3375A>C (p.Pro1125=)
c.920A>C (n.920A>C)
c.5142A>C (p.Pro1714=)
c.2651A>C
c.4005A>C (p.Pro1335=)
c.3432A>C (p.Pro1144=)
c.3378A>C (p.Pro1126=)
c.*146A>C (n.*146A>C)
c.3354A>C (p.Pro1118=)
c.918A>C
c.2979A>C (p.Pro993=)
n.1894A>C
n.996A>C
c.5112A>C (p.Pro1704=)
c.5154A>C (p.Pro1718=)
c.5133A>C (p.Pro1711=)
c.5127A>C (p.Pro1709=)
c.5106A>C (p.Pro1702=)
c.4017A>C (p.Pro1339=)
c.5115A>C (p.Pro1705=)
n.997A>C
11g.70473278G>ACA381676307SHANK2c.3374C>T (p.Pro1125Leu)
c.919C>T (n.919C>T)
c.5141C>T (p.Pro1714Leu)
c.2650C>T
c.4004C>T (p.Pro1335Leu)
c.3431C>T (p.Pro1144Leu)
c.3377C>T (p.Pro1126Leu)
c.*145C>T (n.*145C>T)
c.3353C>T (p.Pro1118Leu)
c.917C>T
c.2978C>T (p.Pro993Leu)
n.1893C>T
n.995C>T
c.5111C>T (p.Pro1704Leu)
c.5153C>T (p.Pro1718Leu)
c.5132C>T (p.Pro1711Leu)
c.5126C>T (p.Pro1709Leu)
c.5105C>T (p.Pro1702Leu)
c.4016C>T (p.Pro1339Leu)
c.5114C>T (p.Pro1705Leu)
n.996C>T
11g.70473278G>CCA381676308SHANK2c.3374C>G (p.Pro1125Arg)
c.919C>G (n.919C>G)
c.5141C>G (p.Pro1714Arg)
c.2650C>G
c.4004C>G (p.Pro1335Arg)
c.3431C>G (p.Pro1144Arg)
c.3377C>G (p.Pro1126Arg)
c.*145C>G (n.*145C>G)
c.3353C>G (p.Pro1118Arg)
c.917C>G
c.2978C>G (p.Pro993Arg)
n.1893C>G
n.995C>G
c.5111C>G (p.Pro1704Arg)
c.5153C>G (p.Pro1718Arg)
c.5132C>G (p.Pro1711Arg)
c.5126C>G (p.Pro1709Arg)
c.5105C>G (p.Pro1702Arg)
c.4016C>G (p.Pro1339Arg)
c.5114C>G (p.Pro1705Arg)
n.996C>G
11g.70473278G>TCA381676309SHANK2c.3374C>A (p.Pro1125Gln)
c.919C>A (n.919C>A)
c.5141C>A (p.Pro1714Gln)
c.2650C>A
c.4004C>A (p.Pro1335Gln)
c.3431C>A (p.Pro1144Gln)
c.3377C>A (p.Pro1126Gln)
c.*145C>A (n.*145C>A)
c.3353C>A (p.Pro1118Gln)
c.917C>A
c.2978C>A (p.Pro993Gln)
n.1893C>A
n.995C>A
c.5111C>A (p.Pro1704Gln)
c.5153C>A (p.Pro1718Gln)
c.5132C>A (p.Pro1711Gln)
c.5126C>A (p.Pro1709Gln)
c.5105C>A (p.Pro1702Gln)
c.4016C>A (p.Pro1339Gln)
c.5114C>A (p.Pro1705Gln)
n.996C>A
11g.70473279G>ACA381676311SHANK2c.3373C>T (p.Pro1125Ser)
c.918C>T (n.918C>T)
c.5140C>T (p.Pro1714Ser)
c.2649C>T
c.4003C>T (p.Pro1335Ser)
c.3430C>T (p.Pro1144Ser)
c.3376C>T (p.Pro1126Ser)
c.*144C>T (n.*144C>T)
c.3352C>T (p.Pro1118Ser)
c.916C>T
c.2977C>T (p.Pro993Ser)
n.1892C>T
n.994C>T
c.5110C>T (p.Pro1704Ser)
c.5152C>T (p.Pro1718Ser)
c.5131C>T (p.Pro1711Ser)
c.5125C>T (p.Pro1709Ser)
c.5104C>T (p.Pro1702Ser)
c.4015C>T (p.Pro1339Ser)
c.5113C>T (p.Pro1705Ser)
n.995C>T
11g.70473279G>CCA381676312SHANK2c.3373C>G (p.Pro1125Ala)
c.918C>G (n.918C>G)
c.5140C>G (p.Pro1714Ala)
c.2649C>G
c.4003C>G (p.Pro1335Ala)
c.3430C>G (p.Pro1144Ala)
c.3376C>G (p.Pro1126Ala)
c.*144C>G (n.*144C>G)
c.3352C>G (p.Pro1118Ala)
c.916C>G
c.2977C>G (p.Pro993Ala)
n.1892C>G
n.994C>G
c.5110C>G (p.Pro1704Ala)
c.5152C>G (p.Pro1718Ala)
c.5131C>G (p.Pro1711Ala)
c.5125C>G (p.Pro1709Ala)
c.5104C>G (p.Pro1702Ala)
c.4015C>G (p.Pro1339Ala)
c.5113C>G (p.Pro1705Ala)
n.995C>G
 gnomAD v4
11g.70473279G=CA1981067980SHANK2c.3373C= (p.Pro1125=)
c.918C= (n.918C=)
c.5140C= (p.Pro1714=)
c.2649C=
c.4003C= (p.Pro1335=)
c.3430C= (p.Pro1144=)
c.3376C= (p.Pro1126=)
c.*144C= (n.*144C=)
c.3352C= (p.Pro1118=)
c.916C=
c.2977C= (p.Pro993=)
n.1892C=
n.994C=
c.5110C= (p.Pro1704=)
c.5152C= (p.Pro1718=)
c.5131C= (p.Pro1711=)
c.5125C= (p.Pro1709=)
c.5104C= (p.Pro1702=)
c.4015C= (p.Pro1339=)
c.5113C= (p.Pro1705=)
n.995C=
11g.70473279G>TCA381676310SHANK2c.3373C>A (p.Pro1125Thr)
c.918C>A (n.918C>A)
c.5140C>A (p.Pro1714Thr)
c.2649C>A
c.4003C>A (p.Pro1335Thr)
c.3430C>A (p.Pro1144Thr)
c.3376C>A (p.Pro1126Thr)
c.*144C>A (n.*144C>A)
c.3352C>A (p.Pro1118Thr)
c.916C>A
c.2977C>A (p.Pro993Thr)
n.1892C>A
n.994C>A
c.5110C>A (p.Pro1704Thr)
c.5152C>A (p.Pro1718Thr)
c.5131C>A (p.Pro1711Thr)
c.5125C>A (p.Pro1709Thr)
c.5104C>A (p.Pro1702Thr)
c.4015C>A (p.Pro1339Thr)
c.5113C>A (p.Pro1705Thr)
n.995C>A
 dbSNP
11g.70473280C>ACA6160762SHANK2c.3372G>T (p.Ser1124=)
c.917G>T (n.917G>T)
c.5139G>T (p.Ser1713=)
c.2648G>T
c.4002G>T (p.Ser1334=)
c.3429G>T (p.Ser1143=)
c.3375G>T (p.Ser1125=)
c.*143G>T (n.*143G>T)
c.3351G>T (p.Ser1117=)
c.915G>T
c.2976G>T (p.Ser992=)
n.1891G>T
n.993G>T
c.5109G>T (p.Ser1703=)
c.5151G>T (p.Ser1717=)
c.5130G>T (p.Ser1710=)
c.5124G>T (p.Ser1708=)
c.5103G>T (p.Ser1701=)
c.4014G>T (p.Ser1338=)
c.5112G>T (p.Ser1704=)
n.994G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473280C=CA1981067981SHANK2c.3372G= (p.Ser1124=)
c.917G= (n.917G=)
c.5139G= (p.Ser1713=)
c.2648G=
c.4002G= (p.Ser1334=)
c.3429G= (p.Ser1143=)
c.3375G= (p.Ser1125=)
c.*143G= (n.*143G=)
c.3351G= (p.Ser1117=)
c.915G=
c.2976G= (p.Ser992=)
n.1891G=
n.993G=
c.5109G= (p.Ser1703=)
c.5151G= (p.Ser1717=)
c.5130G= (p.Ser1710=)
c.5124G= (p.Ser1708=)
c.5103G= (p.Ser1701=)
c.4014G= (p.Ser1338=)
c.5112G= (p.Ser1704=)
n.994G=
11g.70473280C>GCA475470712SHANK2c.3372G>C (p.Ser1124=)
c.917G>C (n.917G>C)
c.5139G>C (p.Ser1713=)
c.2648G>C
c.4002G>C (p.Ser1334=)
c.3429G>C (p.Ser1143=)
c.3375G>C (p.Ser1125=)
c.*143G>C (n.*143G>C)
c.3351G>C (p.Ser1117=)
c.915G>C
c.2976G>C (p.Ser992=)
n.1891G>C
n.993G>C
c.5109G>C (p.Ser1703=)
c.5151G>C (p.Ser1717=)
c.5130G>C (p.Ser1710=)
c.5124G>C (p.Ser1708=)
c.5103G>C (p.Ser1701=)
c.4014G>C (p.Ser1338=)
c.5112G>C (p.Ser1704=)
n.994G>C
11g.70473280C>TCA6160763SHANK2c.3372G>A (p.Ser1124=)
c.917G>A (n.917G>A)
c.5139G>A (p.Ser1713=)
c.2648G>A
c.4002G>A (p.Ser1334=)
c.3429G>A (p.Ser1143=)
c.3375G>A (p.Ser1125=)
c.*143G>A (n.*143G>A)
c.3351G>A (p.Ser1117=)
c.915G>A
c.2976G>A (p.Ser992=)
n.1891G>A
n.993G>A
c.5109G>A (p.Ser1703=)
c.5151G>A (p.Ser1717=)
c.5130G>A (p.Ser1710=)
c.5124G>A (p.Ser1708=)
c.5103G>A (p.Ser1701=)
c.4014G>A (p.Ser1338=)
c.5112G>A (p.Ser1704=)
n.994G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473281G>ACA6160764SHANK2c.3371C>T (p.Ser1124Leu)
c.916C>T (n.916C>T)
c.5138C>T (p.Ser1713Leu)
c.2647C>T
c.4001C>T (p.Ser1334Leu)
c.3428C>T (p.Ser1143Leu)
c.3374C>T (p.Ser1125Leu)
c.*142C>T (n.*142C>T)
c.3350C>T (p.Ser1117Leu)
c.914C>T
c.2975C>T (p.Ser992Leu)
n.1890C>T
n.992C>T
c.5108C>T (p.Ser1703Leu)
c.5150C>T (p.Ser1717Leu)
c.5129C>T (p.Ser1710Leu)
c.5123C>T (p.Ser1708Leu)
c.5102C>T (p.Ser1701Leu)
c.4013C>T (p.Ser1338Leu)
c.5111C>T (p.Ser1704Leu)
n.993C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473281G>CCA381676313SHANK2c.3371C>G (p.Ser1124Trp)
c.916C>G (n.916C>G)
c.5138C>G (p.Ser1713Trp)
c.2647C>G
c.4001C>G (p.Ser1334Trp)
c.3428C>G (p.Ser1143Trp)
c.3374C>G (p.Ser1125Trp)
c.*142C>G (n.*142C>G)
c.3350C>G (p.Ser1117Trp)
c.914C>G
c.2975C>G (p.Ser992Trp)
n.1890C>G
n.992C>G
c.5108C>G (p.Ser1703Trp)
c.5150C>G (p.Ser1717Trp)
c.5129C>G (p.Ser1710Trp)
c.5123C>G (p.Ser1708Trp)
c.5102C>G (p.Ser1701Trp)
c.4013C>G (p.Ser1338Trp)
c.5111C>G (p.Ser1704Trp)
n.993C>G
11g.70473281G=CA1981067982SHANK2c.3371C= (p.Ser1124=)
c.916C= (n.916C=)
c.5138C= (p.Ser1713=)
c.2647C=
c.4001C= (p.Ser1334=)
c.3428C= (p.Ser1143=)
c.3374C= (p.Ser1125=)
c.*142C= (n.*142C=)
c.3350C= (p.Ser1117=)
c.914C=
c.2975C= (p.Ser992=)
n.1890C=
n.992C=
c.5108C= (p.Ser1703=)
c.5150C= (p.Ser1717=)
c.5129C= (p.Ser1710=)
c.5123C= (p.Ser1708=)
c.5102C= (p.Ser1701=)
c.4013C= (p.Ser1338=)
c.5111C= (p.Ser1704=)
n.993C=
11g.70473281G>TCA381676314SHANK2c.3371C>A (p.Ser1124Ter)
c.916C>A (n.916C>A)
c.5138C>A (p.Ser1713Ter)
c.2647C>A
c.4001C>A (p.Ser1334Ter)
c.3428C>A (p.Ser1143Ter)
c.3374C>A (p.Ser1125Ter)
c.*142C>A (n.*142C>A)
c.3350C>A (p.Ser1117Ter)
c.914C>A
c.2975C>A (p.Ser992Ter)
n.1890C>A
n.992C>A
c.5108C>A (p.Ser1703Ter)
c.5150C>A (p.Ser1717Ter)
c.5129C>A (p.Ser1710Ter)
c.5123C>A (p.Ser1708Ter)
c.5102C>A (p.Ser1701Ter)
c.4013C>A (p.Ser1338Ter)
c.5111C>A (p.Ser1704Ter)
n.993C>A
11g.70473282A>CCA381676317SHANK2c.3370T>G (p.Ser1124Ala)
c.915T>G (n.915T>G)
c.5137T>G (p.Ser1713Ala)
c.2646T>G
c.4000T>G (p.Ser1334Ala)
c.3427T>G (p.Ser1143Ala)
c.3373T>G (p.Ser1125Ala)
c.*141T>G (n.*141T>G)
c.3349T>G (p.Ser1117Ala)
c.913T>G
c.2974T>G (p.Ser992Ala)
n.1889T>G
n.991T>G
c.5107T>G (p.Ser1703Ala)
c.5149T>G (p.Ser1717Ala)
c.5128T>G (p.Ser1710Ala)
c.5122T>G (p.Ser1708Ala)
c.5101T>G (p.Ser1701Ala)
c.4012T>G (p.Ser1338Ala)
c.5110T>G (p.Ser1704Ala)
n.992T>G
11g.70473282A>GCA381676316SHANK2c.3370T>C (p.Ser1124Pro)
c.915T>C (n.915T>C)
c.5137T>C (p.Ser1713Pro)
c.2646T>C
c.4000T>C (p.Ser1334Pro)
c.3427T>C (p.Ser1143Pro)
c.3373T>C (p.Ser1125Pro)
c.*141T>C (n.*141T>C)
c.3349T>C (p.Ser1117Pro)
c.913T>C
c.2974T>C (p.Ser992Pro)
n.1889T>C
n.991T>C
c.5107T>C (p.Ser1703Pro)
c.5149T>C (p.Ser1717Pro)
c.5128T>C (p.Ser1710Pro)
c.5122T>C (p.Ser1708Pro)
c.5101T>C (p.Ser1701Pro)
c.4012T>C (p.Ser1338Pro)
c.5110T>C (p.Ser1704Pro)
n.992T>C
11g.70473282A>TCA381676315SHANK2c.3370T>A (p.Ser1124Thr)
c.915T>A (n.915T>A)
c.5137T>A (p.Ser1713Thr)
c.2646T>A
c.4000T>A (p.Ser1334Thr)
c.3427T>A (p.Ser1143Thr)
c.3373T>A (p.Ser1125Thr)
c.*141T>A (n.*141T>A)
c.3349T>A (p.Ser1117Thr)
c.913T>A
c.2974T>A (p.Ser992Thr)
n.1889T>A
n.991T>A
c.5107T>A (p.Ser1703Thr)
c.5149T>A (p.Ser1717Thr)
c.5128T>A (p.Ser1710Thr)
c.5122T>A (p.Ser1708Thr)
c.5101T>A (p.Ser1701Thr)
c.4012T>A (p.Ser1338Thr)
c.5110T>A (p.Ser1704Thr)
n.992T>A
11g.70473283G>ACA475470715SHANK2c.3369C>T (p.Val1123=)
c.914C>T (n.914C>T)
c.5136C>T (p.Val1712=)
c.2645C>T
c.3999C>T (p.Val1333=)
c.3426C>T (p.Val1142=)
c.3372C>T (p.Val1124=)
c.*140C>T (n.*140C>T)
c.3348C>T (p.Val1116=)
c.912C>T
c.2973C>T (p.Val991=)
n.1888C>T
n.990C>T
c.5106C>T (p.Val1702=)
c.5148C>T (p.Val1716=)
c.5127C>T (p.Val1709=)
c.5121C>T (p.Val1707=)
c.5100C>T (p.Val1700=)
c.4011C>T (p.Val1337=)
c.5109C>T (p.Val1703=)
n.991C>T
11g.70473283G>CCA475470714SHANK2c.3369C>G (p.Val1123=)
c.914C>G (n.914C>G)
c.5136C>G (p.Val1712=)
c.2645C>G
c.3999C>G (p.Val1333=)
c.3426C>G (p.Val1142=)
c.3372C>G (p.Val1124=)
c.*140C>G (n.*140C>G)
c.3348C>G (p.Val1116=)
c.912C>G
c.2973C>G (p.Val991=)
n.1888C>G
n.990C>G
c.5106C>G (p.Val1702=)
c.5148C>G (p.Val1716=)
c.5127C>G (p.Val1709=)
c.5121C>G (p.Val1707=)
c.5100C>G (p.Val1700=)
c.4011C>G (p.Val1337=)
c.5109C>G (p.Val1703=)
n.991C>G
11g.70473283G>TCA475470713SHANK2c.3369C>A (p.Val1123=)
c.914C>A (n.914C>A)
c.5136C>A (p.Val1712=)
c.2645C>A
c.3999C>A (p.Val1333=)
c.3426C>A (p.Val1142=)
c.3372C>A (p.Val1124=)
c.*140C>A (n.*140C>A)
c.3348C>A (p.Val1116=)
c.912C>A
c.2973C>A (p.Val991=)
n.1888C>A
n.990C>A
c.5106C>A (p.Val1702=)
c.5148C>A (p.Val1716=)
c.5127C>A (p.Val1709=)
c.5121C>A (p.Val1707=)
c.5100C>A (p.Val1700=)
c.4011C>A (p.Val1337=)
c.5109C>A (p.Val1703=)
n.991C>A
11g.70473284A=CA1981067983SHANK2c.3368T= (p.Val1123=)
c.913T= (n.913T=)
c.5135T= (p.Val1712=)
c.2644T=
c.3998T= (p.Val1333=)
c.3425T= (p.Val1142=)
c.3371T= (p.Val1124=)
c.*139T= (n.*139T=)
c.3347T= (p.Val1116=)
c.911T=
c.2972T= (p.Val991=)
n.1887T=
n.989T=
c.5105T= (p.Val1702=)
c.5147T= (p.Val1716=)
c.5126T= (p.Val1709=)
c.5120T= (p.Val1707=)
c.5099T= (p.Val1700=)
c.4010T= (p.Val1337=)
c.5108T= (p.Val1703=)
n.990T=
11g.70473284A>CCA381676318SHANK2c.3368T>G (p.Val1123Gly)
c.913T>G (n.913T>G)
c.5135T>G (p.Val1712Gly)
c.2644T>G
c.3998T>G (p.Val1333Gly)
c.3425T>G (p.Val1142Gly)
c.3371T>G (p.Val1124Gly)
c.*139T>G (n.*139T>G)
c.3347T>G (p.Val1116Gly)
c.911T>G
c.2972T>G (p.Val991Gly)
n.1887T>G
n.989T>G
c.5105T>G (p.Val1702Gly)
c.5147T>G (p.Val1716Gly)
c.5126T>G (p.Val1709Gly)
c.5120T>G (p.Val1707Gly)
c.5099T>G (p.Val1700Gly)
c.4010T>G (p.Val1337Gly)
c.5108T>G (p.Val1703Gly)
n.990T>G
11g.70473284A>GCA381676319SHANK2c.3368T>C (p.Val1123Ala)
c.913T>C (n.913T>C)
c.5135T>C (p.Val1712Ala)
c.2644T>C
c.3998T>C (p.Val1333Ala)
c.3425T>C (p.Val1142Ala)
c.3371T>C (p.Val1124Ala)
c.*139T>C (n.*139T>C)
c.3347T>C (p.Val1116Ala)
c.911T>C
c.2972T>C (p.Val991Ala)
n.1887T>C
n.989T>C
c.5105T>C (p.Val1702Ala)
c.5147T>C (p.Val1716Ala)
c.5126T>C (p.Val1709Ala)
c.5120T>C (p.Val1707Ala)
c.5099T>C (p.Val1700Ala)
c.4010T>C (p.Val1337Ala)
c.5108T>C (p.Val1703Ala)
n.990T>C
 dbSNP
11g.70473284A>TCA381676320SHANK2c.3368T>A (p.Val1123Asp)
c.913T>A (n.913T>A)
c.5135T>A (p.Val1712Asp)
c.2644T>A
c.3998T>A (p.Val1333Asp)
c.3425T>A (p.Val1142Asp)
c.3371T>A (p.Val1124Asp)
c.*139T>A (n.*139T>A)
c.3347T>A (p.Val1116Asp)
c.911T>A
c.2972T>A (p.Val991Asp)
n.1887T>A
n.989T>A
c.5105T>A (p.Val1702Asp)
c.5147T>A (p.Val1716Asp)
c.5126T>A (p.Val1709Asp)
c.5120T>A (p.Val1707Asp)
c.5099T>A (p.Val1700Asp)
c.4010T>A (p.Val1337Asp)
c.5108T>A (p.Val1703Asp)
n.990T>A
11g.70473285C>ACA381676321SHANK2c.3367G>T (p.Val1123Phe)
c.912G>T (n.912G>T)
c.5134G>T (p.Val1712Phe)
c.2643G>T
c.3997G>T (p.Val1333Phe)
c.3424G>T (p.Val1142Phe)
c.3370G>T (p.Val1124Phe)
c.*138G>T (n.*138G>T)
c.3346G>T (p.Val1116Phe)
c.910G>T
c.2971G>T (p.Val991Phe)
n.1886G>T
n.988G>T
c.5104G>T (p.Val1702Phe)
c.5146G>T (p.Val1716Phe)
c.5125G>T (p.Val1709Phe)
c.5119G>T (p.Val1707Phe)
c.5098G>T (p.Val1700Phe)
c.4009G>T (p.Val1337Phe)
c.5107G>T (p.Val1703Phe)
n.989G>T
11g.70473285C=CA1981067984SHANK2c.3367G= (p.Val1123=)
c.912G= (n.912G=)
c.5134G= (p.Val1712=)
c.2643G=
c.3997G= (p.Val1333=)
c.3424G= (p.Val1142=)
c.3370G= (p.Val1124=)
c.*138G= (n.*138G=)
c.3346G= (p.Val1116=)
c.910G=
c.2971G= (p.Val991=)
n.1886G=
n.988G=
c.5104G= (p.Val1702=)
c.5146G= (p.Val1716=)
c.5125G= (p.Val1709=)
c.5119G= (p.Val1707=)
c.5098G= (p.Val1700=)
c.4009G= (p.Val1337=)
c.5107G= (p.Val1703=)
n.989G=
11g.70473285C>GCA381676322SHANK2c.3367G>C (p.Val1123Leu)
c.912G>C (n.912G>C)
c.5134G>C (p.Val1712Leu)
c.2643G>C
c.3997G>C (p.Val1333Leu)
c.3424G>C (p.Val1142Leu)
c.3370G>C (p.Val1124Leu)
c.*138G>C (n.*138G>C)
c.3346G>C (p.Val1116Leu)
c.910G>C
c.2971G>C (p.Val991Leu)
n.1886G>C
n.988G>C
c.5104G>C (p.Val1702Leu)
c.5146G>C (p.Val1716Leu)
c.5125G>C (p.Val1709Leu)
c.5119G>C (p.Val1707Leu)
c.5098G>C (p.Val1700Leu)
c.4009G>C (p.Val1337Leu)
c.5107G>C (p.Val1703Leu)
n.989G>C
11g.70473285C>TCA381676323SHANK2c.3367G>A (p.Val1123Ile)
c.912G>A (n.912G>A)
c.5134G>A (p.Val1712Ile)
c.2643G>A
c.3997G>A (p.Val1333Ile)
c.3424G>A (p.Val1142Ile)
c.3370G>A (p.Val1124Ile)
c.*138G>A (n.*138G>A)
c.3346G>A (p.Val1116Ile)
c.910G>A
c.2971G>A (p.Val991Ile)
n.1886G>A
n.988G>A
c.5104G>A (p.Val1702Ile)
c.5146G>A (p.Val1716Ile)
c.5125G>A (p.Val1709Ile)
c.5119G>A (p.Val1707Ile)
c.5098G>A (p.Val1700Ile)
c.4009G>A (p.Val1337Ile)
c.5107G>A (p.Val1703Ile)
n.989G>A
 dbSNP gnomAD v4
11g.70473286C>ACA475470716SHANK2c.3366G>T (p.Val1122=)
c.911G>T (n.911G>T)
c.5133G>T (p.Val1711=)
c.2642G>T
c.3996G>T (p.Val1332=)
c.3423G>T (p.Val1141=)
c.3369G>T (p.Val1123=)
c.*137G>T (n.*137G>T)
c.3345G>T (p.Val1115=)
c.909G>T
c.2970G>T (p.Val990=)
n.1885G>T
n.987G>T
c.5103G>T (p.Val1701=)
c.5145G>T (p.Val1715=)
c.5124G>T (p.Val1708=)
c.5118G>T (p.Val1706=)
c.5097G>T (p.Val1699=)
c.4008G>T (p.Val1336=)
c.5106G>T (p.Val1702=)
n.988G>T
 dbSNP
11g.70473286C=CA1981067985SHANK2c.3366G= (p.Val1122=)
c.911G= (n.911G=)
c.5133G= (p.Val1711=)
c.2642G=
c.3996G= (p.Val1332=)
c.3423G= (p.Val1141=)
c.3369G= (p.Val1123=)
c.*137G= (n.*137G=)
c.3345G= (p.Val1115=)
c.909G=
c.2970G= (p.Val990=)
n.1885G=
n.987G=
c.5103G= (p.Val1701=)
c.5145G= (p.Val1715=)
c.5124G= (p.Val1708=)
c.5118G= (p.Val1706=)
c.5097G= (p.Val1699=)
c.4008G= (p.Val1336=)
c.5106G= (p.Val1702=)
n.988G=
11g.70473286C>GCA475470718SHANK2c.3366G>C (p.Val1122=)
c.911G>C (n.911G>C)
c.5133G>C (p.Val1711=)
c.2642G>C
c.3996G>C (p.Val1332=)
c.3423G>C (p.Val1141=)
c.3369G>C (p.Val1123=)
c.*137G>C (n.*137G>C)
c.3345G>C (p.Val1115=)
c.909G>C
c.2970G>C (p.Val990=)
n.1885G>C
n.987G>C
c.5103G>C (p.Val1701=)
c.5145G>C (p.Val1715=)
c.5124G>C (p.Val1708=)
c.5118G>C (p.Val1706=)
c.5097G>C (p.Val1699=)
c.4008G>C (p.Val1336=)
c.5106G>C (p.Val1702=)
n.988G>C
11g.70473286C>TCA475470717SHANK2c.3366G>A (p.Val1122=)
c.911G>A (n.911G>A)
c.5133G>A (p.Val1711=)
c.2642G>A
c.3996G>A (p.Val1332=)
c.3423G>A (p.Val1141=)
c.3369G>A (p.Val1123=)
c.*137G>A (n.*137G>A)
c.3345G>A (p.Val1115=)
c.909G>A
c.2970G>A (p.Val990=)
n.1885G>A
n.987G>A
c.5103G>A (p.Val1701=)
c.5145G>A (p.Val1715=)
c.5124G>A (p.Val1708=)
c.5118G>A (p.Val1706=)
c.5097G>A (p.Val1699=)
c.4008G>A (p.Val1336=)
c.5106G>A (p.Val1702=)
n.988G>A
11g.70473287A>CCA381676326SHANK2c.3365T>G (p.Val1122Gly)
c.910T>G (n.910T>G)
c.5132T>G (p.Val1711Gly)
c.2641T>G
c.3995T>G (p.Val1332Gly)
c.3422T>G (p.Val1141Gly)
c.3368T>G (p.Val1123Gly)
c.*136T>G (n.*136T>G)
c.3344T>G (p.Val1115Gly)
c.908T>G
c.2969T>G (p.Val990Gly)
n.1884T>G
n.986T>G
c.5102T>G (p.Val1701Gly)
c.5144T>G (p.Val1715Gly)
c.5123T>G (p.Val1708Gly)
c.5117T>G (p.Val1706Gly)
c.5096T>G (p.Val1699Gly)
c.4007T>G (p.Val1336Gly)
c.5105T>G (p.Val1702Gly)
n.987T>G
11g.70473287A>GCA381676324SHANK2c.3365T>C (p.Val1122Ala)
c.910T>C (n.910T>C)
c.5132T>C (p.Val1711Ala)
c.2641T>C
c.3995T>C (p.Val1332Ala)
c.3422T>C (p.Val1141Ala)
c.3368T>C (p.Val1123Ala)
c.*136T>C (n.*136T>C)
c.3344T>C (p.Val1115Ala)
c.908T>C
c.2969T>C (p.Val990Ala)
n.1884T>C
n.986T>C
c.5102T>C (p.Val1701Ala)
c.5144T>C (p.Val1715Ala)
c.5123T>C (p.Val1708Ala)
c.5117T>C (p.Val1706Ala)
c.5096T>C (p.Val1699Ala)
c.4007T>C (p.Val1336Ala)
c.5105T>C (p.Val1702Ala)
n.987T>C
11g.70473287A>TCA381676325SHANK2c.3365T>A (p.Val1122Glu)
c.910T>A (n.910T>A)
c.5132T>A (p.Val1711Glu)
c.2641T>A
c.3995T>A (p.Val1332Glu)
c.3422T>A (p.Val1141Glu)
c.3368T>A (p.Val1123Glu)
c.*136T>A (n.*136T>A)
c.3344T>A (p.Val1115Glu)
c.908T>A
c.2969T>A (p.Val990Glu)
n.1884T>A
n.986T>A
c.5102T>A (p.Val1701Glu)
c.5144T>A (p.Val1715Glu)
c.5123T>A (p.Val1708Glu)
c.5117T>A (p.Val1706Glu)
c.5096T>A (p.Val1699Glu)
c.4007T>A (p.Val1336Glu)
c.5105T>A (p.Val1702Glu)
n.987T>A

Number of alleles fetched