Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.70473186T>A | CA381676031 | SHANK2 | c.3466A>T (p.Ser1156Cys) c.1011A>T (n.1011A>T) c.5233A>T (p.Ser1745Cys) c.2742A>T c.4096A>T (p.Ser1366Cys) c.3523A>T (p.Ser1175Cys) c.3469A>T (p.Ser1157Cys) c.*237A>T (n.*237A>T) c.3445A>T (p.Ser1149Cys) c.1009A>T c.3070A>T (p.Ser1024Cys) n.1985A>T n.1087A>T c.5203A>T (p.Ser1735Cys) c.5245A>T (p.Ser1749Cys) c.5224A>T (p.Ser1742Cys) c.5218A>T (p.Ser1740Cys) c.5197A>T (p.Ser1733Cys) c.4108A>T (p.Ser1370Cys) c.5206A>T (p.Ser1736Cys) n.1088A>T | |
11 | g.70473186T>C | CA381676032 | SHANK2 | c.3466A>G (p.Ser1156Gly) c.1011A>G (n.1011A>G) c.5233A>G (p.Ser1745Gly) c.2742A>G c.4096A>G (p.Ser1366Gly) c.3523A>G (p.Ser1175Gly) c.3469A>G (p.Ser1157Gly) c.*237A>G (n.*237A>G) c.3445A>G (p.Ser1149Gly) c.1009A>G c.3070A>G (p.Ser1024Gly) n.1985A>G n.1087A>G c.5203A>G (p.Ser1735Gly) c.5245A>G (p.Ser1749Gly) c.5224A>G (p.Ser1742Gly) c.5218A>G (p.Ser1740Gly) c.5197A>G (p.Ser1733Gly) c.4108A>G (p.Ser1370Gly) c.5206A>G (p.Ser1736Gly) n.1088A>G | |
11 | g.70473186T>G | CA381676034 | SHANK2 | c.3466A>C (p.Ser1156Arg) c.1011A>C (n.1011A>C) c.5233A>C (p.Ser1745Arg) c.2742A>C c.4096A>C (p.Ser1366Arg) c.3523A>C (p.Ser1175Arg) c.3469A>C (p.Ser1157Arg) c.*237A>C (n.*237A>C) c.3445A>C (p.Ser1149Arg) c.1009A>C c.3070A>C (p.Ser1024Arg) n.1985A>C n.1087A>C c.5203A>C (p.Ser1735Arg) c.5245A>C (p.Ser1749Arg) c.5224A>C (p.Ser1742Arg) c.5218A>C (p.Ser1740Arg) c.5197A>C (p.Ser1733Arg) c.4108A>C (p.Ser1370Arg) c.5206A>C (p.Ser1736Arg) n.1088A>C | gnomAD v4 |
11 | g.70473187T>A | CA475471202 | SHANK2 | c.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 | |
11 | g.70473187T>C | CA475471201 | SHANK2 | c.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 | |
11 | g.70473187T>G | CA475471199 | SHANK2 | c.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 | |
11 | g.70473187_70473188delinsAA | CA645583696 | SHANK2 | c.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 |
11 | g.70473188G>A | CA381676037 | SHANK2 | c.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 |
11 | g.70473188G>C | CA381676041 | SHANK2 | c.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 | |
11 | g.70473188G= | CA1981067941 | SHANK2 | c.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= | |
11 | g.70473188G>T | CA381676039 | SHANK2 | c.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 | |
11 | g.70473189G>A | CA381676043 | SHANK2 | c.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 | |
11 | g.70473189G>C | CA381676044 | SHANK2 | c.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 | |
11 | g.70473189G>T | CA381676045 | SHANK2 | c.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 | |
11 | g.70473190A>C | CA475471206 | SHANK2 | c.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 | |
11 | g.70473190A>G | CA475471208 | SHANK2 | c.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 | |
11 | g.70473190A>T | CA475471207 | SHANK2 | c.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 | |
11 | g.70473191A>C | CA381676046 | SHANK2 | c.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 | |
11 | g.70473191A>G | CA381676047 | SHANK2 | c.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 | |
11 | g.70473191A>T | CA381676048 | SHANK2 | c.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 | |
11 | g.70473192G>A | CA381676055 | SHANK2 | c.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 | |
11 | g.70473192G>C | CA381676056 | SHANK2 | c.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 | |
11 | g.70473192G>T | CA381676058 | SHANK2 | c.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 | |
11 | g.70473193G>A | CA475471212 | SHANK2 | c.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 |
11 | g.70473193G>C | CA381676062 | SHANK2 | c.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 | |
11 | g.70473193G>T | CA381676063 | SHANK2 | c.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 | |
11 | g.70473194C>A | CA381676069 | SHANK2 | c.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 |
11 | g.70473194C= | CA1981067942 | SHANK2 | c.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= | |
11 | g.70473194C>G | CA381676072 | SHANK2 | c.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 | |
11 | g.70473194C>T | CA381676066 | SHANK2 | c.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 | |
11 | g.70473195T>A | CA381676079 | SHANK2 | c.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 | |
11 | g.70473195T>C | CA381676075 | SHANK2 | c.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 | |
11 | g.70473195T>G | CA381676081 | SHANK2 | c.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 | |
11 | g.70473196A= | CA1981067943 | SHANK2 | c.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= | |
11 | g.70473196A>C | CA381676082 | SHANK2 | c.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 | |
11 | g.70473196A>G | CA475470589 | SHANK2 | c.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 |
11 | g.70473196A>T | CA381676084 | SHANK2 | c.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 | |
11 | g.70473197A>C | CA381676086 | SHANK2 | c.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 | |
11 | g.70473197A>G | CA381676087 | SHANK2 | c.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 | |
11 | g.70473197A>T | CA381676090 | SHANK2 | c.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 | |
11 | g.70473198A>C | CA381676093 | SHANK2 | c.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 | |
11 | g.70473198A>G | CA381676096 | SHANK2 | c.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 | |
11 | g.70473198A>T | CA381676098 | SHANK2 | c.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 | |
11 | g.70473199G>A | CA475470592 | SHANK2 | c.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 | |
11 | g.70473199G>C | CA475470594 | SHANK2 | c.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 | |
11 | g.70473199G= | CA1981067944 | SHANK2 | c.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= | |
11 | g.70473199G>T | CA475470596 | SHANK2 | c.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 |
11 | g.70473200A>C | CA381676101 | SHANK2 | c.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 | |
11 | g.70473200A>G | CA381676103 | SHANK2 | c.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 | |
11 | g.70473200A>T | CA381676104 | SHANK2 | c.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 | |
11 | g.70473201C>A | CA381676106 | SHANK2 | c.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 | |
11 | g.70473201C= | CA1981067945 | SHANK2 | c.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= | |
11 | g.70473201C>G | CA381676108 | SHANK2 | c.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 | |
11 | g.70473201C>T | CA6160741 | SHANK2 | c.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 |
11 | g.70473202A>C | CA381676111 | SHANK2 | c.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 | |
11 | g.70473202A>G | CA475470599 | SHANK2 | c.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 | |
11 | g.70473202A>T | CA381676113 | SHANK2 | c.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 | |
11 | g.70473203T>A | CA381676116 | SHANK2 | c.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 | |
11 | g.70473203T>C | CA381676118 | SHANK2 | c.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 | |
11 | g.70473203T>G | CA381676121 | SHANK2 | c.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 | |
11 | g.70473204C>A | CA381676124 | SHANK2 | c.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 | |
11 | g.70473204C>G | CA381676128 | SHANK2 | c.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 | |
11 | g.70473204C>T | CA381676131 | SHANK2 | c.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 | |
11 | g.70473205T>A | CA475470603 | SHANK2 | c.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 | |
11 | g.70473205T>C | CA475470605 | SHANK2 | c.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 | |
11 | g.70473205T>G | CA475470604 | SHANK2 | c.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 |
11 | g.70473206G>A | CA381676132 | SHANK2 | c.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 | |
11 | g.70473206G>C | CA381676133 | SHANK2 | c.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 | |
11 | g.70473206G>T | CA381676137 | SHANK2 | c.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 | |
11 | g.70473207A= | CA1981067946 | SHANK2 | c.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= | |
11 | g.70473207A>C | CA381676140 | SHANK2 | c.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 | |
11 | g.70473207A>G | CA223591788 | SHANK2 | c.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 |
11 | g.70473207A>T | CA381676143 | SHANK2 | c.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 | |
11 | g.70473208G>A | CA475470608 | SHANK2 | c.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 | |
11 | g.70473208G>C | CA475470609 | SHANK2 | c.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 | |
11 | g.70473208G>T | CA475470611 | SHANK2 | c.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 | |
11 | g.70473209A>C | CA381676146 | SHANK2 | c.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 | |
11 | g.70473209A>G | CA381676149 | SHANK2 | c.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 | |
11 | g.70473209A>T | CA381676148 | SHANK2 | c.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 | |
11 | g.70473210G>A | CA381676151 | SHANK2 | c.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 | |
11 | g.70473210G>C | CA381676153 | SHANK2 | c.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 |
11 | g.70473210G= | CA1981067947 | SHANK2 | c.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= | |
11 | g.70473210G>T | CA381676155 | SHANK2 | c.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 | |
11 | g.70473211A>C | CA475470614 | SHANK2 | c.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 | |
11 | g.70473211A>G | CA475470616 | SHANK2 | c.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 | |
11 | g.70473211A>T | CA475470615 | SHANK2 | c.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 | |
11 | g.70473212G>A | CA6160742 | SHANK2 | c.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 |
11 | g.70473212G>C | CA381676158 | SHANK2 | c.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 | |
11 | g.70473212G= | CA1981067948 | SHANK2 | c.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= | |
11 | g.70473212G>T | CA381676160 | SHANK2 | c.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 | |
11 | g.70473213C>A | CA6160744 | SHANK2 | c.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 |
11 | g.70473213C= | CA1981067949 | SHANK2 | c.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= | |
11 | g.70473213C>G | CA381676162 | SHANK2 | c.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 | |
11 | g.70473213C>T | CA6160743 | SHANK2 | c.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 |
11 | g.70473214G>A | CA6160745 | SHANK2 | c.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 |
11 | g.70473214G>C | CA475470620 | SHANK2 | c.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 | |
11 | g.70473214G= | CA1981067950 | SHANK2 | c.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= | |
11 | g.70473214G>T | CA475470621 | SHANK2 | c.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 | |
11 | g.70473215G>A | CA381676166 | SHANK2 | c.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 |
11 | g.70473215G>C | CA381676168 | SHANK2 | c.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 | |
11 | g.70473215G>T | CA381676170 | SHANK2 | c.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 | |
11 | g.70473216G>A | CA381676171 | SHANK2 | c.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 |
11 | g.70473216G>C | CA381676175 | SHANK2 | c.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 | |
11 | g.70473216G= | CA1981067952 | SHANK2 | c.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= | |
11 | g.70473216G>T | CA381676173 | SHANK2 | c.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 | |
11 | g.70473216_70473219delinsGAGA | CA1981067951 | SHANK2 | c.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 | |
11 | g.70473217A>C | CA475470627 | SHANK2 | c.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 | |
11 | g.70473217A>G | CA475470626 | SHANK2 | c.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 |
11 | g.70473217A>T | CA475470625 | SHANK2 | c.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 | |
11 | g.70473219_70473221del | CA6160746 | SHANK2 | c.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 |
11 | g.70473218G>A | CA381676177 | SHANK2 | c.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 | |
11 | g.70473218G>C | CA381676178 | SHANK2 | c.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 | |
11 | g.70473218G>T | CA381676180 | SHANK2 | c.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 | |
11 | g.70473219A>C | CA381676182 | SHANK2 | c.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 | |
11 | g.70473219A>G | CA381676184 | SHANK2 | c.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 |
11 | g.70473219A>T | CA381676186 | SHANK2 | c.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 | |
11 | g.70473220A>C | CA475470629 | SHANK2 | c.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 | |
11 | g.70473220A>G | CA475470632 | SHANK2 | c.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 | |
11 | g.70473220A>T | CA475470631 | SHANK2 | c.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 | |
11 | g.70473221G>A | CA6160747 | SHANK2 | c.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 |
11 | g.70473221G>C | CA381676189 | SHANK2 | c.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 | |
11 | g.70473221G= | CA1981067953 | SHANK2 | c.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= | |
11 | g.70473221G>T | CA381676190 | SHANK2 | c.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 | |
11 | g.70473222G>A | CA381676197 | SHANK2 | c.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 | |
11 | g.70473222G>C | CA381676199 | SHANK2 | c.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 | |
11 | g.70473222G>T | CA381676193 | SHANK2 | c.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 | |
11 | g.70473223A>C | CA475470634 | SHANK2 | c.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 | |
11 | g.70473223A>G | CA475470635 | SHANK2 | c.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 | |
11 | g.70473223A>T | CA475470636 | SHANK2 | c.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 | |
11 | g.70473224G>A | CA381676200 | SHANK2 | c.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 |
11 | g.70473224G>C | CA381676202 | SHANK2 | c.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 | |
11 | g.70473224G= | CA1981067954 | SHANK2 | c.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= | |
11 | g.70473224G>T | CA6160748 | SHANK2 | c.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 |
11 | g.70473225A>C | CA381676205 | SHANK2 | c.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 | |
11 | g.70473225A>G | CA381676206 | SHANK2 | c.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 | |
11 | g.70473225A>T | CA381676207 | SHANK2 | c.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 | |
11 | g.70473226G>A | CA475470640 | SHANK2 | c.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 |
11 | g.70473226G>C | CA475470637 | SHANK2 | c.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 |
11 | g.70473226G= | CA1981067955 | SHANK2 | c.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= | |
11 | g.70473226G>T | CA475470638 | SHANK2 | c.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 | |
11 | g.70473227G>A | CA381676208 | SHANK2 | c.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 | |
11 | g.70473227G>C | CA381676209 | SHANK2 | c.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 | |
11 | g.70473227G>T | CA381676210 | SHANK2 | c.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 | |
11 | g.70473228C>A | CA381676211 | SHANK2 | c.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 |
11 | g.70473228C= | CA1981067956 | SHANK2 | c.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= | |
11 | g.70473228C>G | CA381676212 | SHANK2 | c.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 | |
11 | g.70473228C>T | CA223591804 | SHANK2 | c.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 |
11 | g.70473229G>A | CA6160749 | SHANK2 | c.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 |
11 | g.70473229G>C | CA475470642 | SHANK2 | c.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 |
11 | g.70473229G= | CA1981067957 | SHANK2 | c.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= | |
11 | g.70473229G>T | CA475470643 | SHANK2 | c.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 | |
11 | g.70473230G>A | CA381676215 | SHANK2 | c.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 | |
11 | g.70473230G>C | CA381676214 | SHANK2 | c.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 | |
11 | g.70473230G>T | CA381676213 | SHANK2 | c.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 | |
11 | g.70473230_70473242delinsGTGGCAGCAGACA | CA1981067958 | SHANK2 | c.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 | |
11 | g.70473231T>A | CA381676216 | SHANK2 | c.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 | |
11 | g.70473231T>C | CA381676217 | SHANK2 | c.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 | |
11 | g.70473231T>G | CA381676218 | SHANK2 | c.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 | |
11 | g.70473231_70473242del | CA223591809 | SHANK2 | c.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 |
11 | g.70473232G>A | CA475470648 | SHANK2 | c.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 |
11 | g.70473232G>C | CA475470649 | SHANK2 | c.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 | |
11 | g.70473232G>T | CA475470650 | SHANK2 | c.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 | |
11 | g.70473233G>A | CA381676219 | SHANK2 | c.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 |
11 | g.70473233G>C | CA381676220 | SHANK2 | c.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 | |
11 | g.70473233G= | CA1981067960 | SHANK2 | c.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= | |
11 | g.70473233G>T | CA381676221 | SHANK2 | c.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 | |
11 | g.70473233_70473242delinsGCAGCAGACA | CA1981067959 | SHANK2 | c.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 | |
11 | g.70473234C>A | CA381676222 | SHANK2 | c.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 | |
11 | g.70473234C= | CA1981067961 | SHANK2 | c.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= | |
11 | g.70473234C>G | CA381676223 | SHANK2 | c.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 |
11 | g.70473234C>T | CA6160750 | SHANK2 | c.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 |
11 | g.70473234_70473242del | CA223591812 | SHANK2 | c.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 |
11 | g.70473235A>C | CA475470654 | SHANK2 | c.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 | |
11 | g.70473235A>G | CA475470653 | SHANK2 | c.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 | |
11 | g.70473235A>T | CA475470652 | SHANK2 | c.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 | |
11 | g.70473236G>A | CA381676224 | SHANK2 | c.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 | |
11 | g.70473236G>C | CA381676225 | SHANK2 | c.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 | |
11 | g.70473236G>T | CA381676226 | SHANK2 | c.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 | |
11 | g.70473237C>A | CA381676227 | SHANK2 | c.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 |
11 | g.70473237C= | CA1981067962 | SHANK2 | c.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= | |
11 | g.70473237C>G | CA381676228 | SHANK2 | c.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 | |
11 | g.70473237C>T | CA6160751 | SHANK2 | c.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 |
11 | g.70473238A>C | CA475470660 | SHANK2 | c.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 | |
11 | g.70473238A>G | CA475470659 | SHANK2 | c.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 | |
11 | g.70473238A>T | CA475470658 | SHANK2 | c.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 | |
11 | g.70473239G>A | CA381676229 | SHANK2 | c.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 |
11 | g.70473239G>C | CA381676230 | SHANK2 | c.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 | |
11 | g.70473239G>T | CA381676231 | SHANK2 | c.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 |
11 | g.70473240A>C | CA381676232 | SHANK2 | c.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 | |
11 | g.70473240A>G | CA381676233 | SHANK2 | c.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 | |
11 | g.70473240A>T | CA381676234 | SHANK2 | c.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 |
11 | g.70473241C>A | CA475470663 | SHANK2 | c.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 | |
11 | g.70473241C>G | CA475470666 | SHANK2 | c.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 | |
11 | g.70473241C>T | CA475470665 | SHANK2 | c.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 | |
11 | g.70473242A= | CA1981067963 | SHANK2 | c.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= | |
11 | g.70473242A>C | CA381676235 | SHANK2 | c.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 | |
11 | g.70473242A>G | CA381676236 | SHANK2 | c.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 |
11 | g.70473242A>T | CA381676237 | SHANK2 | c.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 |
11 | g.70473242_70473243del | CA2574908643 | SHANK2 | c.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 |
11 | g.70473243G>A | CA475470667 | SHANK2 | c.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 | |
11 | g.70473243G>C | CA381676238 | SHANK2 | c.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 | |
11 | g.70473243G= | CA1981067964 | SHANK2 | c.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= | |
11 | g.70473243G>T | CA6160752 | SHANK2 | c.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 |
11 | g.70473248dup | CA2792603590 | SHANK2 | c.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 | |
11 | g.70473248del | CA645583697 | SHANK2 | c.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 |
11 | g.70473244G>A | CA475470669 | SHANK2 | c.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 |
11 | g.70473244G>C | CA475470671 | SHANK2 | c.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 |
11 | g.70473244G= | CA1981067965 | SHANK2 | c.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= | |
11 | g.70473244G>T | CA6160753 | SHANK2 | c.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 |
11 | g.70473245G>A | CA381676241 | SHANK2 | c.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 |
11 | g.70473245G>C | CA381676240 | SHANK2 | c.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 | |
11 | g.70473245G>T | CA381676239 | SHANK2 | c.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 | |
11 | g.70473246G>A | CA6160754 | SHANK2 | c.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 |
11 | g.70473246G>C | CA381676242 | SHANK2 | c.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 | |
11 | g.70473246G= | CA1981067966 | SHANK2 | c.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= | |
11 | g.70473246G>T | CA381676243 | SHANK2 | c.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 |
11 | g.70473247G>A | CA475470674 | SHANK2 | c.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 |
11 | g.70473247G>C | CA475470675 | SHANK2 | c.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 | |
11 | g.70473247G= | CA1981067967 | SHANK2 | c.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= | |
11 | g.70473247G>T | CA475470676 | SHANK2 | c.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 |
11 | g.70473248G>A | CA381676244 | SHANK2 | c.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 | |
11 | g.70473248G>C | CA381676245 | SHANK2 | c.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 | |
11 | g.70473248G>T | CA381676246 | SHANK2 | c.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 | |
11 | g.70473249C>A | CA381676247 | SHANK2 | c.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 | |
11 | g.70473249C= | CA1981067968 | SHANK2 | c.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= | |
11 | g.70473249C>G | CA381676248 | SHANK2 | c.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 | |
11 | g.70473249C>T | CA6160755 | SHANK2 | c.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 |
11 | g.70473250G>A | CA6160756 | SHANK2 | c.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 |
11 | g.70473250G>C | CA475470680 | SHANK2 | c.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 |
11 | g.70473250G= | CA1981067969 | SHANK2 | c.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= | |
11 | g.70473250G>T | CA475470681 | SHANK2 | c.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 | |
11 | g.70473251G>A | CA381676249 | SHANK2 | c.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 |
11 | g.70473251G>C | CA381676250 | SHANK2 | c.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 | |
11 | g.70473251G>T | CA381676251 | SHANK2 | c.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 | |
11 | g.70473252G>A | CA381676253 | SHANK2 | c.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 | |
11 | g.70473252G>C | CA381676254 | SHANK2 | c.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 | |
11 | g.70473252G>T | CA381676252 | SHANK2 | c.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 |
11 | g.70473253C>A | CA475470685 | SHANK2 | c.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 | |
11 | g.70473253C>G | CA475470687 | SHANK2 | c.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 | |
11 | g.70473253C>T | CA475470688 | SHANK2 | c.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 |
11 | g.70473254A= | CA1981067970 | SHANK2 | c.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= | |
11 | g.70473254A>C | CA381676255 | SHANK2 | c.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 | |
11 | g.70473254A>G | CA6160757 | SHANK2 | c.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 |
11 | g.70473254A>T | CA381676256 | SHANK2 | c.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 | |
11 | g.70473255G>A | CA475470692 | SHANK2 | c.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 |
11 | g.70473255G>C | CA381676257 | SHANK2 | c.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 | |
11 | g.70473255G>T | CA381676258 | SHANK2 | c.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 | |
11 | g.70473256G>A | CA475470693 | SHANK2 | c.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 | |
11 | g.70473256G>C | CA475470694 | SHANK2 | c.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 | |
11 | g.70473256G>T | CA475470695 | SHANK2 | c.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 | |
11 | g.70473257G>A | CA381676259 | SHANK2 | c.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 | |
11 | g.70473257G>C | CA381676260 | SHANK2 | c.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 | |
11 | g.70473257G= | CA1981067971 | SHANK2 | c.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= | |
11 | g.70473257G>T | CA381676261 | SHANK2 | c.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 |
11 | g.70473258T>A | CA381676262 | SHANK2 | c.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 | |
11 | g.70473258T>C | CA381676263 | SHANK2 | c.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 | |
11 | g.70473258T>G | CA381676264 | SHANK2 | c.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 | |
11 | g.70473259C>A | CA381676265 | SHANK2 | c.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 | |
11 | g.70473259C>G | CA381676266 | SHANK2 | c.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 | |
11 | g.70473259C>T | CA475470700 | SHANK2 | c.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 | |
11 | g.70473260T>A | CA381676267 | SHANK2 | c.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 | |
11 | g.70473260T>C | CA381676268 | SHANK2 | c.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 | |
11 | g.70473260T>G | CA381676269 | SHANK2 | c.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 | |
11 | g.70473261C>A | CA381676270 | SHANK2 | c.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 | |
11 | g.70473261C>G | CA381676272 | SHANK2 | c.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 | |
11 | g.70473261C>T | CA381676271 | SHANK2 | c.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 | |
11 | g.70473262T>A | CA381676273 | SHANK2 | c.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 | |
11 | g.70473262T>C | CA475470701 | SHANK2 | c.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 | |
11 | g.70473262T>G | CA381676274 | SHANK2 | c.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 | |
11 | g.70473263T>A | CA381676275 | SHANK2 | c.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 | |
11 | g.70473263T>C | CA381676276 | SHANK2 | c.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 | |
11 | g.70473263T>G | CA6160758 | SHANK2 | c.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 |
11 | g.70473263T= | CA1981067972 | SHANK2 | c.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= | |
11 | g.70473264T>A | CA381676277 | SHANK2 | c.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 | |
11 | g.70473264T>C | CA381676278 | SHANK2 | c.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 | |
11 | g.70473264T>G | CA381676279 | SHANK2 | c.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 |
11 | g.70473264T= | CA1981067973 | SHANK2 | c.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= | |
11 | g.70473265G>A | CA475470704 | SHANK2 | c.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 |
11 | g.70473265G>C | CA381676280 | SHANK2 | c.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 | |
11 | g.70473265G= | CA1981067974 | SHANK2 | c.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= | |
11 | g.70473265G>T | CA6160759 | SHANK2 | c.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 |
11 | g.70473266T>A | CA381676282 | SHANK2 | c.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 | |
11 | g.70473266T>C | CA381676283 | SHANK2 | c.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 | |
11 | g.70473266T>G | CA381676281 | SHANK2 | c.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 | |
11 | g.70473267T>A | CA381676284 | SHANK2 | c.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 | |
11 | g.70473267T>C | CA381676285 | SHANK2 | c.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 | |
11 | g.70473267T>G | CA381676286 | SHANK2 | c.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 | |
11 | g.70473268C>A | CA381676287 | SHANK2 | c.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 | |
11 | g.70473268C= | CA1981067975 | SHANK2 | c.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= | |
11 | g.70473268C>G | CA6160760 | SHANK2 | c.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 |
11 | g.70473268C>T | CA214637 | SHANK2 | c.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 |
11 | g.70473269A>C | CA381676290 | SHANK2 | c.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 | |
11 | g.70473269A>G | CA381676288 | SHANK2 | c.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 | |
11 | g.70473269A>T | CA381676289 | SHANK2 | c.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 |
11 | g.70473270T>A | CA381676291 | SHANK2 | c.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 | |
11 | g.70473270T>C | CA381676292 | SHANK2 | c.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 |
11 | g.70473270T>G | CA381676293 | SHANK2 | c.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 | |
11 | g.70473270T= | CA1981067976 | SHANK2 | c.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= | |
11 | g.70473271C>A | CA6160761 | SHANK2 | c.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 |
11 | g.70473271C= | CA1981067977 | SHANK2 | c.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= | |
11 | g.70473271C>G | CA381676294 | SHANK2 | c.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 | |
11 | g.70473271C>T | CA475470705 | SHANK2 | c.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 |
11 | g.70473272T>A | CA381676295 | SHANK2 | c.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 | |
11 | g.70473272T>C | CA381676297 | SHANK2 | c.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 | |
11 | g.70473272T>G | CA381676296 | SHANK2 | c.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 | |
11 | g.70473273C>A | CA381676298 | SHANK2 | c.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 | |
11 | g.70473273C>G | CA381676299 | SHANK2 | c.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 |
11 | g.70473273C>T | CA381676300 | SHANK2 | c.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 | |
11 | g.70473274T>A | CA475470706 | SHANK2 | c.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 | |
11 | g.70473274T>C | CA475470707 | SHANK2 | c.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 | |
11 | g.70473274T>G | CA475470708 | SHANK2 | c.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 | |
11 | g.70473275G>A | CA381676301 | SHANK2 | c.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 |
11 | g.70473275G>C | CA381676302 | SHANK2 | c.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 | |
11 | g.70473275G= | CA1981067978 | SHANK2 | c.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= | |
11 | g.70473275G>T | CA381676303 | SHANK2 | c.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 | |
11 | g.70473276T>A | CA381676304 | SHANK2 | c.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 | |
11 | g.70473276T>C | CA381676305 | SHANK2 | c.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 |
11 | g.70473276T>G | CA381676306 | SHANK2 | c.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 | |
11 | g.70473276T= | CA1981067979 | SHANK2 | c.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= | |
11 | g.70473277T>A | CA475470709 | SHANK2 | c.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 | |
11 | g.70473277T>C | CA475470710 | SHANK2 | c.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 | |
11 | g.70473277T>G | CA475470711 | SHANK2 | c.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 | |
11 | g.70473278G>A | CA381676307 | SHANK2 | c.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 | |
11 | g.70473278G>C | CA381676308 | SHANK2 | c.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 | |
11 | g.70473278G>T | CA381676309 | SHANK2 | c.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 | |
11 | g.70473279G>A | CA381676311 | SHANK2 | c.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 | |
11 | g.70473279G>C | CA381676312 | SHANK2 | c.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 |
11 | g.70473279G= | CA1981067980 | SHANK2 | c.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= | |
11 | g.70473279G>T | CA381676310 | SHANK2 | c.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 |
11 | g.70473280C>A | CA6160762 | SHANK2 | c.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 |
11 | g.70473280C= | CA1981067981 | SHANK2 | c.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= | |
11 | g.70473280C>G | CA475470712 | SHANK2 | c.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 | |
11 | g.70473280C>T | CA6160763 | SHANK2 | c.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 |
11 | g.70473281G>A | CA6160764 | SHANK2 | c.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 |
11 | g.70473281G>C | CA381676313 | SHANK2 | c.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 | |
11 | g.70473281G= | CA1981067982 | SHANK2 | c.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= | |
11 | g.70473281G>T | CA381676314 | SHANK2 | c.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 | |
11 | g.70473282A>C | CA381676317 | SHANK2 | c.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 | |
11 | g.70473282A>G | CA381676316 | SHANK2 | c.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 | |
11 | g.70473282A>T | CA381676315 | SHANK2 | c.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 | |
11 | g.70473283G>A | CA475470715 | SHANK2 | c.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 | |
11 | g.70473283G>C | CA475470714 | SHANK2 | c.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 | |
11 | g.70473283G>T | CA475470713 | SHANK2 | c.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 | |
11 | g.70473284A= | CA1981067983 | SHANK2 | c.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= | |
11 | g.70473284A>C | CA381676318 | SHANK2 | c.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 | |
11 | g.70473284A>G | CA381676319 | SHANK2 | c.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 |
11 | g.70473284A>T | CA381676320 | SHANK2 | c.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 | |
11 | g.70473285C>A | CA381676321 | SHANK2 | c.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 | |
11 | g.70473285C= | CA1981067984 | SHANK2 | c.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= | |
11 | g.70473285C>G | CA381676322 | SHANK2 | c.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 | |
11 | g.70473285C>T | CA381676323 | SHANK2 | c.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 |
11 | g.70473286C>A | CA475470716 | SHANK2 | c.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 |
11 | g.70473286C= | CA1981067985 | SHANK2 | c.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= | |
11 | g.70473286C>G | CA475470718 | SHANK2 | c.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 | |
11 | g.70473286C>T | CA475470717 | SHANK2 | c.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 |