Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.70473227G>ACA381676208SHANK2c.3425C>T (p.Ala1142Val)
c.970C>T (n.970C>T)
c.5192C>T (p.Ala1731Val)
c.2701C>T
c.4055C>T (p.Ala1352Val)
c.3482C>T (p.Ala1161Val)
c.3428C>T (p.Ala1143Val)
c.*196C>T (n.*196C>T)
c.3404C>T (p.Ala1135Val)
c.968C>T
c.3029C>T (p.Ala1010Val)
n.1944C>T
n.1046C>T
c.5162C>T (p.Ala1721Val)
c.5204C>T (p.Ala1735Val)
c.5183C>T (p.Ala1728Val)
c.5177C>T (p.Ala1726Val)
c.5156C>T (p.Ala1719Val)
c.4067C>T (p.Ala1356Val)
c.5165C>T (p.Ala1722Val)
n.1047C>T
11g.70473227G>CCA381676209SHANK2c.3425C>G (p.Ala1142Gly)
c.970C>G (n.970C>G)
c.5192C>G (p.Ala1731Gly)
c.2701C>G
c.4055C>G (p.Ala1352Gly)
c.3482C>G (p.Ala1161Gly)
c.3428C>G (p.Ala1143Gly)
c.*196C>G (n.*196C>G)
c.3404C>G (p.Ala1135Gly)
c.968C>G
c.3029C>G (p.Ala1010Gly)
n.1944C>G
n.1046C>G
c.5162C>G (p.Ala1721Gly)
c.5204C>G (p.Ala1735Gly)
c.5183C>G (p.Ala1728Gly)
c.5177C>G (p.Ala1726Gly)
c.5156C>G (p.Ala1719Gly)
c.4067C>G (p.Ala1356Gly)
c.5165C>G (p.Ala1722Gly)
n.1047C>G
11g.70473227G>TCA381676210SHANK2c.3425C>A (p.Ala1142Asp)
c.970C>A (n.970C>A)
c.5192C>A (p.Ala1731Asp)
c.2701C>A
c.4055C>A (p.Ala1352Asp)
c.3482C>A (p.Ala1161Asp)
c.3428C>A (p.Ala1143Asp)
c.*196C>A (n.*196C>A)
c.3404C>A (p.Ala1135Asp)
c.968C>A
c.3029C>A (p.Ala1010Asp)
n.1944C>A
n.1046C>A
c.5162C>A (p.Ala1721Asp)
c.5204C>A (p.Ala1735Asp)
c.5183C>A (p.Ala1728Asp)
c.5177C>A (p.Ala1726Asp)
c.5156C>A (p.Ala1719Asp)
c.4067C>A (p.Ala1356Asp)
c.5165C>A (p.Ala1722Asp)
n.1047C>A
11g.70473228C>ACA381676211SHANK2c.3424G>T (p.Ala1142Ser)
c.969G>T (n.969G>T)
c.5191G>T (p.Ala1731Ser)
c.2700G>T
c.4054G>T (p.Ala1352Ser)
c.3481G>T (p.Ala1161Ser)
c.3427G>T (p.Ala1143Ser)
c.*195G>T (n.*195G>T)
c.3403G>T (p.Ala1135Ser)
c.967G>T
c.3028G>T (p.Ala1010Ser)
n.1943G>T
n.1045G>T
c.5161G>T (p.Ala1721Ser)
c.5203G>T (p.Ala1735Ser)
c.5182G>T (p.Ala1728Ser)
c.5176G>T (p.Ala1726Ser)
c.5155G>T (p.Ala1719Ser)
c.4066G>T (p.Ala1356Ser)
c.5164G>T (p.Ala1722Ser)
n.1046G>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473228C=CA1981067956SHANK2c.3424G= (p.Ala1142=)
c.969G= (n.969G=)
c.5191G= (p.Ala1731=)
c.2700G=
c.4054G= (p.Ala1352=)
c.3481G= (p.Ala1161=)
c.3427G= (p.Ala1143=)
c.*195G= (n.*195G=)
c.3403G= (p.Ala1135=)
c.967G=
c.3028G= (p.Ala1010=)
n.1943G=
n.1045G=
c.5161G= (p.Ala1721=)
c.5203G= (p.Ala1735=)
c.5182G= (p.Ala1728=)
c.5176G= (p.Ala1726=)
c.5155G= (p.Ala1719=)
c.4066G= (p.Ala1356=)
c.5164G= (p.Ala1722=)
n.1046G=
11g.70473228C>GCA381676212SHANK2c.3424G>C (p.Ala1142Pro)
c.969G>C (n.969G>C)
c.5191G>C (p.Ala1731Pro)
c.2700G>C
c.4054G>C (p.Ala1352Pro)
c.3481G>C (p.Ala1161Pro)
c.3427G>C (p.Ala1143Pro)
c.*195G>C (n.*195G>C)
c.3403G>C (p.Ala1135Pro)
c.967G>C
c.3028G>C (p.Ala1010Pro)
n.1943G>C
n.1045G>C
c.5161G>C (p.Ala1721Pro)
c.5203G>C (p.Ala1735Pro)
c.5182G>C (p.Ala1728Pro)
c.5176G>C (p.Ala1726Pro)
c.5155G>C (p.Ala1719Pro)
c.4066G>C (p.Ala1356Pro)
c.5164G>C (p.Ala1722Pro)
n.1046G>C
11g.70473228C>TCA223591804SHANK2c.3424G>A (p.Ala1142Thr)
c.969G>A (n.969G>A)
c.5191G>A (p.Ala1731Thr)
c.2700G>A
c.4054G>A (p.Ala1352Thr)
c.3481G>A (p.Ala1161Thr)
c.3427G>A (p.Ala1143Thr)
c.*195G>A (n.*195G>A)
c.3403G>A (p.Ala1135Thr)
c.967G>A
c.3028G>A (p.Ala1010Thr)
n.1943G>A
n.1045G>A
c.5161G>A (p.Ala1721Thr)
c.5203G>A (p.Ala1735Thr)
c.5182G>A (p.Ala1728Thr)
c.5176G>A (p.Ala1726Thr)
c.5155G>A (p.Ala1719Thr)
c.4066G>A (p.Ala1356Thr)
c.5164G>A (p.Ala1722Thr)
n.1046G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473229G>ACA6160749SHANK2c.3423C>T (p.Thr1141=)
c.968C>T (n.968C>T)
c.5190C>T (p.Thr1730=)
c.2699C>T
c.4053C>T (p.Thr1351=)
c.3480C>T (p.Thr1160=)
c.3426C>T (p.Thr1142=)
c.*194C>T (n.*194C>T)
c.3402C>T (p.Thr1134=)
c.966C>T
c.3027C>T (p.Thr1009=)
n.1942C>T
n.1044C>T
c.5160C>T (p.Thr1720=)
c.5202C>T (p.Thr1734=)
c.5181C>T (p.Thr1727=)
c.5175C>T (p.Thr1725=)
c.5154C>T (p.Thr1718=)
c.4065C>T (p.Thr1355=)
c.5163C>T (p.Thr1721=)
n.1045C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473229G>CCA475470642SHANK2c.3423C>G (p.Thr1141=)
c.968C>G (n.968C>G)
c.5190C>G (p.Thr1730=)
c.2699C>G
c.4053C>G (p.Thr1351=)
c.3480C>G (p.Thr1160=)
c.3426C>G (p.Thr1142=)
c.*194C>G (n.*194C>G)
c.3402C>G (p.Thr1134=)
c.966C>G
c.3027C>G (p.Thr1009=)
n.1942C>G
n.1044C>G
c.5160C>G (p.Thr1720=)
c.5202C>G (p.Thr1734=)
c.5181C>G (p.Thr1727=)
c.5175C>G (p.Thr1725=)
c.5154C>G (p.Thr1718=)
c.4065C>G (p.Thr1355=)
c.5163C>G (p.Thr1721=)
n.1045C>G
 gnomAD v4
11g.70473229G=CA1981067957SHANK2c.3423C= (p.Thr1141=)
c.968C= (n.968C=)
c.5190C= (p.Thr1730=)
c.2699C=
c.4053C= (p.Thr1351=)
c.3480C= (p.Thr1160=)
c.3426C= (p.Thr1142=)
c.*194C= (n.*194C=)
c.3402C= (p.Thr1134=)
c.966C=
c.3027C= (p.Thr1009=)
n.1942C=
n.1044C=
c.5160C= (p.Thr1720=)
c.5202C= (p.Thr1734=)
c.5181C= (p.Thr1727=)
c.5175C= (p.Thr1725=)
c.5154C= (p.Thr1718=)
c.4065C= (p.Thr1355=)
c.5163C= (p.Thr1721=)
n.1045C=
11g.70473229G>TCA475470643SHANK2c.3423C>A (p.Thr1141=)
c.968C>A (n.968C>A)
c.5190C>A (p.Thr1730=)
c.2699C>A
c.4053C>A (p.Thr1351=)
c.3480C>A (p.Thr1160=)
c.3426C>A (p.Thr1142=)
c.*194C>A (n.*194C>A)
c.3402C>A (p.Thr1134=)
c.966C>A
c.3027C>A (p.Thr1009=)
n.1942C>A
n.1044C>A
c.5160C>A (p.Thr1720=)
c.5202C>A (p.Thr1734=)
c.5181C>A (p.Thr1727=)
c.5175C>A (p.Thr1725=)
c.5154C>A (p.Thr1718=)
c.4065C>A (p.Thr1355=)
c.5163C>A (p.Thr1721=)
n.1045C>A
11g.70473230G>ACA381676215SHANK2c.3422C>T (p.Thr1141Ile)
c.967C>T (n.967C>T)
c.5189C>T (p.Thr1730Ile)
c.2698C>T
c.4052C>T (p.Thr1351Ile)
c.3479C>T (p.Thr1160Ile)
c.3425C>T (p.Thr1142Ile)
c.*193C>T (n.*193C>T)
c.3401C>T (p.Thr1134Ile)
c.965C>T
c.3026C>T (p.Thr1009Ile)
n.1941C>T
n.1043C>T
c.5159C>T (p.Thr1720Ile)
c.5201C>T (p.Thr1734Ile)
c.5180C>T (p.Thr1727Ile)
c.5174C>T (p.Thr1725Ile)
c.5153C>T (p.Thr1718Ile)
c.4064C>T (p.Thr1355Ile)
c.5162C>T (p.Thr1721Ile)
n.1044C>T
11g.70473230G>CCA381676214SHANK2c.3422C>G (p.Thr1141Ser)
c.967C>G (n.967C>G)
c.5189C>G (p.Thr1730Ser)
c.2698C>G
c.4052C>G (p.Thr1351Ser)
c.3479C>G (p.Thr1160Ser)
c.3425C>G (p.Thr1142Ser)
c.*193C>G (n.*193C>G)
c.3401C>G (p.Thr1134Ser)
c.965C>G
c.3026C>G (p.Thr1009Ser)
n.1941C>G
n.1043C>G
c.5159C>G (p.Thr1720Ser)
c.5201C>G (p.Thr1734Ser)
c.5180C>G (p.Thr1727Ser)
c.5174C>G (p.Thr1725Ser)
c.5153C>G (p.Thr1718Ser)
c.4064C>G (p.Thr1355Ser)
c.5162C>G (p.Thr1721Ser)
n.1044C>G
11g.70473230G>TCA381676213SHANK2c.3422C>A (p.Thr1141Asn)
c.967C>A (n.967C>A)
c.5189C>A (p.Thr1730Asn)
c.2698C>A
c.4052C>A (p.Thr1351Asn)
c.3479C>A (p.Thr1160Asn)
c.3425C>A (p.Thr1142Asn)
c.*193C>A (n.*193C>A)
c.3401C>A (p.Thr1134Asn)
c.965C>A
c.3026C>A (p.Thr1009Asn)
n.1941C>A
n.1043C>A
c.5159C>A (p.Thr1720Asn)
c.5201C>A (p.Thr1734Asn)
c.5180C>A (p.Thr1727Asn)
c.5174C>A (p.Thr1725Asn)
c.5153C>A (p.Thr1718Asn)
c.4064C>A (p.Thr1355Asn)
c.5162C>A (p.Thr1721Asn)
n.1044C>A
11g.70473230_70473242delinsGTGGCAGCAGACACA1981067958SHANK2c.3410_3422delinsTGTCTGCTGCCAC (p.Leu1137=)
c.955_967delinsTGTCTGCTGCCAC (n.955_967delinsTGTCTGCTGCCAC)
c.5177_5189delinsTGTCTGCTGCCAC (p.Leu1726=)
c.2686_2698delinsTGTCTGCTGCCAC
c.4040_4052delinsTGTCTGCTGCCAC (p.Leu1347=)
c.3467_3479delinsTGTCTGCTGCCAC (p.Leu1156=)
c.3413_3425delinsTGTCTGCTGCCAC (p.Leu1138=)
c.*181_*193delinsTGTCTGCTGCCAC (n.*181_*193delinsTGTCTGCTGCCAC)
c.3389_3401delinsTGTCTGCTGCCAC (p.Leu1130=)
c.953_965delinsTGTCTGCTGCCAC
c.3014_3026delinsTGTCTGCTGCCAC (p.Leu1005=)
n.1929_1941delinsTGTCTGCTGCCAC
n.1031_1043delinsTGTCTGCTGCCAC
c.5147_5159delinsTGTCTGCTGCCAC (p.Leu1716=)
c.5189_5201delinsTGTCTGCTGCCAC (p.Leu1730=)
c.5168_5180delinsTGTCTGCTGCCAC (p.Leu1723=)
c.5162_5174delinsTGTCTGCTGCCAC (p.Leu1721=)
c.5141_5153delinsTGTCTGCTGCCAC (p.Leu1714=)
c.4052_4064delinsTGTCTGCTGCCAC (p.Leu1351=)
c.5150_5162delinsTGTCTGCTGCCAC (p.Leu1717=)
n.1032_1044delinsTGTCTGCTGCCAC
11g.70473231T>ACA381676216SHANK2c.3421A>T (p.Thr1141Ser)
c.966A>T (n.966A>T)
c.5188A>T (p.Thr1730Ser)
c.2697A>T
c.4051A>T (p.Thr1351Ser)
c.3478A>T (p.Thr1160Ser)
c.3424A>T (p.Thr1142Ser)
c.*192A>T (n.*192A>T)
c.3400A>T (p.Thr1134Ser)
c.964A>T
c.3025A>T (p.Thr1009Ser)
n.1940A>T
n.1042A>T
c.5158A>T (p.Thr1720Ser)
c.5200A>T (p.Thr1734Ser)
c.5179A>T (p.Thr1727Ser)
c.5173A>T (p.Thr1725Ser)
c.5152A>T (p.Thr1718Ser)
c.4063A>T (p.Thr1355Ser)
c.5161A>T (p.Thr1721Ser)
n.1043A>T
11g.70473231T>CCA381676217SHANK2c.3421A>G (p.Thr1141Ala)
c.966A>G (n.966A>G)
c.5188A>G (p.Thr1730Ala)
c.2697A>G
c.4051A>G (p.Thr1351Ala)
c.3478A>G (p.Thr1160Ala)
c.3424A>G (p.Thr1142Ala)
c.*192A>G (n.*192A>G)
c.3400A>G (p.Thr1134Ala)
c.964A>G
c.3025A>G (p.Thr1009Ala)
n.1940A>G
n.1042A>G
c.5158A>G (p.Thr1720Ala)
c.5200A>G (p.Thr1734Ala)
c.5179A>G (p.Thr1727Ala)
c.5173A>G (p.Thr1725Ala)
c.5152A>G (p.Thr1718Ala)
c.4063A>G (p.Thr1355Ala)
c.5161A>G (p.Thr1721Ala)
n.1043A>G
11g.70473231T>GCA381676218SHANK2c.3421A>C (p.Thr1141Pro)
c.966A>C (n.966A>C)
c.5188A>C (p.Thr1730Pro)
c.2697A>C
c.4051A>C (p.Thr1351Pro)
c.3478A>C (p.Thr1160Pro)
c.3424A>C (p.Thr1142Pro)
c.*192A>C (n.*192A>C)
c.3400A>C (p.Thr1134Pro)
c.964A>C
c.3025A>C (p.Thr1009Pro)
n.1940A>C
n.1042A>C
c.5158A>C (p.Thr1720Pro)
c.5200A>C (p.Thr1734Pro)
c.5179A>C (p.Thr1727Pro)
c.5173A>C (p.Thr1725Pro)
c.5152A>C (p.Thr1718Pro)
c.4063A>C (p.Thr1355Pro)
c.5161A>C (p.Thr1721Pro)
n.1043A>C
11g.70473231_70473242delCA223591809SHANK2c.3410_3421del (p.Leu1137_Thr1141delinsPro)
c.955_966del (n.955_966del)
c.5177_5188del (p.Leu1726_Thr1730delinsPro)
c.2686_2697del
c.4040_4051del (p.Leu1347_Thr1351delinsPro)
c.3467_3478del (p.Leu1156_Thr1160delinsPro)
c.3413_3424del (p.Leu1138_Thr1142delinsPro)
c.*181_*192del (n.*181_*192del)
c.3389_3400del (p.Leu1130_Thr1134delinsPro)
c.953_964del
c.3014_3025del (p.Leu1005_Thr1009delinsPro)
n.1929_1940del
n.1031_1042del
c.5147_5158del (p.Leu1716_Thr1720delinsPro)
c.5189_5200del (p.Leu1730_Thr1734delinsPro)
c.5168_5179del (p.Leu1723_Thr1727delinsPro)
c.5162_5173del (p.Leu1721_Thr1725delinsPro)
c.5141_5152del (p.Leu1714_Thr1718delinsPro)
c.4052_4063del (p.Leu1351_Thr1355delinsPro)
c.5150_5161del (p.Leu1717_Thr1721delinsPro)
n.1032_1043del
 dbSNP
11g.70473232G>ACA475470648SHANK2c.3420C>T (p.Ala1140=)
c.965C>T (n.965C>T)
c.5187C>T (p.Ala1729=)
c.2696C>T
c.4050C>T (p.Ala1350=)
c.3477C>T (p.Ala1159=)
c.3423C>T (p.Ala1141=)
c.*191C>T (n.*191C>T)
c.3399C>T (p.Ala1133=)
c.963C>T
c.3024C>T (p.Ala1008=)
n.1939C>T
n.1041C>T
c.5157C>T (p.Ala1719=)
c.5199C>T (p.Ala1733=)
c.5178C>T (p.Ala1726=)
c.5172C>T (p.Ala1724=)
c.5151C>T (p.Ala1717=)
c.4062C>T (p.Ala1354=)
c.5160C>T (p.Ala1720=)
n.1042C>T
 dbSNP COSMIC COSMIC COSMIC
11g.70473232G>CCA475470649SHANK2c.3420C>G (p.Ala1140=)
c.965C>G (n.965C>G)
c.5187C>G (p.Ala1729=)
c.2696C>G
c.4050C>G (p.Ala1350=)
c.3477C>G (p.Ala1159=)
c.3423C>G (p.Ala1141=)
c.*191C>G (n.*191C>G)
c.3399C>G (p.Ala1133=)
c.963C>G
c.3024C>G (p.Ala1008=)
n.1939C>G
n.1041C>G
c.5157C>G (p.Ala1719=)
c.5199C>G (p.Ala1733=)
c.5178C>G (p.Ala1726=)
c.5172C>G (p.Ala1724=)
c.5151C>G (p.Ala1717=)
c.4062C>G (p.Ala1354=)
c.5160C>G (p.Ala1720=)
n.1042C>G
11g.70473232G>TCA475470650SHANK2c.3420C>A (p.Ala1140=)
c.965C>A (n.965C>A)
c.5187C>A (p.Ala1729=)
c.2696C>A
c.4050C>A (p.Ala1350=)
c.3477C>A (p.Ala1159=)
c.3423C>A (p.Ala1141=)
c.*191C>A (n.*191C>A)
c.3399C>A (p.Ala1133=)
c.963C>A
c.3024C>A (p.Ala1008=)
n.1939C>A
n.1041C>A
c.5157C>A (p.Ala1719=)
c.5199C>A (p.Ala1733=)
c.5178C>A (p.Ala1726=)
c.5172C>A (p.Ala1724=)
c.5151C>A (p.Ala1717=)
c.4062C>A (p.Ala1354=)
c.5160C>A (p.Ala1720=)
n.1042C>A
11g.70473233G>ACA381676219SHANK2c.3419C>T (p.Ala1140Val)
c.964C>T (n.964C>T)
c.5186C>T (p.Ala1729Val)
c.2695C>T
c.4049C>T (p.Ala1350Val)
c.3476C>T (p.Ala1159Val)
c.3422C>T (p.Ala1141Val)
c.*190C>T (n.*190C>T)
c.3398C>T (p.Ala1133Val)
c.962C>T
c.3023C>T (p.Ala1008Val)
n.1938C>T
n.1040C>T
c.5156C>T (p.Ala1719Val)
c.5198C>T (p.Ala1733Val)
c.5177C>T (p.Ala1726Val)
c.5171C>T (p.Ala1724Val)
c.5150C>T (p.Ala1717Val)
c.4061C>T (p.Ala1354Val)
c.5159C>T (p.Ala1720Val)
n.1041C>T
 dbSNP
11g.70473233G>CCA381676220SHANK2c.3419C>G (p.Ala1140Gly)
c.964C>G (n.964C>G)
c.5186C>G (p.Ala1729Gly)
c.2695C>G
c.4049C>G (p.Ala1350Gly)
c.3476C>G (p.Ala1159Gly)
c.3422C>G (p.Ala1141Gly)
c.*190C>G (n.*190C>G)
c.3398C>G (p.Ala1133Gly)
c.962C>G
c.3023C>G (p.Ala1008Gly)
n.1938C>G
n.1040C>G
c.5156C>G (p.Ala1719Gly)
c.5198C>G (p.Ala1733Gly)
c.5177C>G (p.Ala1726Gly)
c.5171C>G (p.Ala1724Gly)
c.5150C>G (p.Ala1717Gly)
c.4061C>G (p.Ala1354Gly)
c.5159C>G (p.Ala1720Gly)
n.1041C>G
11g.70473233G=CA1981067960SHANK2c.3419C= (p.Ala1140=)
c.964C= (n.964C=)
c.5186C= (p.Ala1729=)
c.2695C=
c.4049C= (p.Ala1350=)
c.3476C= (p.Ala1159=)
c.3422C= (p.Ala1141=)
c.*190C= (n.*190C=)
c.3398C= (p.Ala1133=)
c.962C=
c.3023C= (p.Ala1008=)
n.1938C=
n.1040C=
c.5156C= (p.Ala1719=)
c.5198C= (p.Ala1733=)
c.5177C= (p.Ala1726=)
c.5171C= (p.Ala1724=)
c.5150C= (p.Ala1717=)
c.4061C= (p.Ala1354=)
c.5159C= (p.Ala1720=)
n.1041C=
11g.70473233G>TCA381676221SHANK2c.3419C>A (p.Ala1140Asp)
c.964C>A (n.964C>A)
c.5186C>A (p.Ala1729Asp)
c.2695C>A
c.4049C>A (p.Ala1350Asp)
c.3476C>A (p.Ala1159Asp)
c.3422C>A (p.Ala1141Asp)
c.*190C>A (n.*190C>A)
c.3398C>A (p.Ala1133Asp)
c.962C>A
c.3023C>A (p.Ala1008Asp)
n.1938C>A
n.1040C>A
c.5156C>A (p.Ala1719Asp)
c.5198C>A (p.Ala1733Asp)
c.5177C>A (p.Ala1726Asp)
c.5171C>A (p.Ala1724Asp)
c.5150C>A (p.Ala1717Asp)
c.4061C>A (p.Ala1354Asp)
c.5159C>A (p.Ala1720Asp)
n.1041C>A
11g.70473233_70473242delinsGCAGCAGACACA1981067959SHANK2c.3410_3419delinsTGTCTGCTGC (p.Leu1137=)
c.955_964delinsTGTCTGCTGC (n.955_964delinsTGTCTGCTGC)
c.5177_5186delinsTGTCTGCTGC (p.Leu1726=)
c.2686_2695delinsTGTCTGCTGC
c.4040_4049delinsTGTCTGCTGC (p.Leu1347=)
c.3467_3476delinsTGTCTGCTGC (p.Leu1156=)
c.3413_3422delinsTGTCTGCTGC (p.Leu1138=)
c.*181_*190delinsTGTCTGCTGC (n.*181_*190delinsTGTCTGCTGC)
c.3389_3398delinsTGTCTGCTGC (p.Leu1130=)
c.953_962delinsTGTCTGCTGC
c.3014_3023delinsTGTCTGCTGC (p.Leu1005=)
n.1929_1938delinsTGTCTGCTGC
n.1031_1040delinsTGTCTGCTGC
c.5147_5156delinsTGTCTGCTGC (p.Leu1716=)
c.5189_5198delinsTGTCTGCTGC (p.Leu1730=)
c.5168_5177delinsTGTCTGCTGC (p.Leu1723=)
c.5162_5171delinsTGTCTGCTGC (p.Leu1721=)
c.5141_5150delinsTGTCTGCTGC (p.Leu1714=)
c.4052_4061delinsTGTCTGCTGC (p.Leu1351=)
c.5150_5159delinsTGTCTGCTGC (p.Leu1717=)
n.1032_1041delinsTGTCTGCTGC
11g.70473234C>ACA381676222SHANK2c.3418G>T (p.Ala1140Ser)
c.963G>T (n.963G>T)
c.5185G>T (p.Ala1729Ser)
c.2694G>T
c.4048G>T (p.Ala1350Ser)
c.3475G>T (p.Ala1159Ser)
c.3421G>T (p.Ala1141Ser)
c.*189G>T (n.*189G>T)
c.3397G>T (p.Ala1133Ser)
c.961G>T
c.3022G>T (p.Ala1008Ser)
n.1937G>T
n.1039G>T
c.5155G>T (p.Ala1719Ser)
c.5197G>T (p.Ala1733Ser)
c.5176G>T (p.Ala1726Ser)
c.5170G>T (p.Ala1724Ser)
c.5149G>T (p.Ala1717Ser)
c.4060G>T (p.Ala1354Ser)
c.5158G>T (p.Ala1720Ser)
n.1040G>T
11g.70473234C=CA1981067961SHANK2c.3418G= (p.Ala1140=)
c.963G= (n.963G=)
c.5185G= (p.Ala1729=)
c.2694G=
c.4048G= (p.Ala1350=)
c.3475G= (p.Ala1159=)
c.3421G= (p.Ala1141=)
c.*189G= (n.*189G=)
c.3397G= (p.Ala1133=)
c.961G=
c.3022G= (p.Ala1008=)
n.1937G=
n.1039G=
c.5155G= (p.Ala1719=)
c.5197G= (p.Ala1733=)
c.5176G= (p.Ala1726=)
c.5170G= (p.Ala1724=)
c.5149G= (p.Ala1717=)
c.4060G= (p.Ala1354=)
c.5158G= (p.Ala1720=)
n.1040G=
11g.70473234C>GCA381676223SHANK2c.3418G>C (p.Ala1140Pro)
c.963G>C (n.963G>C)
c.5185G>C (p.Ala1729Pro)
c.2694G>C
c.4048G>C (p.Ala1350Pro)
c.3475G>C (p.Ala1159Pro)
c.3421G>C (p.Ala1141Pro)
c.*189G>C (n.*189G>C)
c.3397G>C (p.Ala1133Pro)
c.961G>C
c.3022G>C (p.Ala1008Pro)
n.1937G>C
n.1039G>C
c.5155G>C (p.Ala1719Pro)
c.5197G>C (p.Ala1733Pro)
c.5176G>C (p.Ala1726Pro)
c.5170G>C (p.Ala1724Pro)
c.5149G>C (p.Ala1717Pro)
c.4060G>C (p.Ala1354Pro)
c.5158G>C (p.Ala1720Pro)
n.1040G>C
 dbSNP
11g.70473234C>TCA6160750SHANK2c.3418G>A (p.Ala1140Thr)
c.963G>A (n.963G>A)
c.5185G>A (p.Ala1729Thr)
c.2694G>A
c.4048G>A (p.Ala1350Thr)
c.3475G>A (p.Ala1159Thr)
c.3421G>A (p.Ala1141Thr)
c.*189G>A (n.*189G>A)
c.3397G>A (p.Ala1133Thr)
c.961G>A
c.3022G>A (p.Ala1008Thr)
n.1937G>A
n.1039G>A
c.5155G>A (p.Ala1719Thr)
c.5197G>A (p.Ala1733Thr)
c.5176G>A (p.Ala1726Thr)
c.5170G>A (p.Ala1724Thr)
c.5149G>A (p.Ala1717Thr)
c.4060G>A (p.Ala1354Thr)
c.5158G>A (p.Ala1720Thr)
n.1040G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473234_70473242delCA223591812SHANK2c.3410_3418del (p.Leu1137_Ala1140delinsPro)
c.955_963del (n.955_963del)
c.5177_5185del (p.Leu1726_Ala1729delinsPro)
c.2686_2694del
c.4040_4048del (p.Leu1347_Ala1350delinsPro)
c.3467_3475del (p.Leu1156_Ala1159delinsPro)
c.3413_3421del (p.Leu1138_Ala1141delinsPro)
c.*181_*189del (n.*181_*189del)
c.3389_3397del (p.Leu1130_Ala1133delinsPro)
c.953_961del
c.3014_3022del (p.Leu1005_Ala1008delinsPro)
n.1929_1937del
n.1031_1039del
c.5147_5155del (p.Leu1716_Ala1719delinsPro)
c.5189_5197del (p.Leu1730_Ala1733delinsPro)
c.5168_5176del (p.Leu1723_Ala1726delinsPro)
c.5162_5170del (p.Leu1721_Ala1724delinsPro)
c.5141_5149del (p.Leu1714_Ala1717delinsPro)
c.4052_4060del (p.Leu1351_Ala1354delinsPro)
c.5150_5158del (p.Leu1717_Ala1720delinsPro)
n.1032_1040del
 dbSNP
11g.70473235A>CCA475470654SHANK2c.3417T>G (p.Ala1139=)
c.962T>G (n.962T>G)
c.5184T>G (p.Ala1728=)
c.2693T>G
c.4047T>G (p.Ala1349=)
c.3474T>G (p.Ala1158=)
c.3420T>G (p.Ala1140=)
c.*188T>G (n.*188T>G)
c.3396T>G (p.Ala1132=)
c.960T>G
c.3021T>G (p.Ala1007=)
n.1936T>G
n.1038T>G
c.5154T>G (p.Ala1718=)
c.5196T>G (p.Ala1732=)
c.5175T>G (p.Ala1725=)
c.5169T>G (p.Ala1723=)
c.5148T>G (p.Ala1716=)
c.4059T>G (p.Ala1353=)
c.5157T>G (p.Ala1719=)
n.1039T>G
11g.70473235A>GCA475470653SHANK2c.3417T>C (p.Ala1139=)
c.962T>C (n.962T>C)
c.5184T>C (p.Ala1728=)
c.2693T>C
c.4047T>C (p.Ala1349=)
c.3474T>C (p.Ala1158=)
c.3420T>C (p.Ala1140=)
c.*188T>C (n.*188T>C)
c.3396T>C (p.Ala1132=)
c.960T>C
c.3021T>C (p.Ala1007=)
n.1936T>C
n.1038T>C
c.5154T>C (p.Ala1718=)
c.5196T>C (p.Ala1732=)
c.5175T>C (p.Ala1725=)
c.5169T>C (p.Ala1723=)
c.5148T>C (p.Ala1716=)
c.4059T>C (p.Ala1353=)
c.5157T>C (p.Ala1719=)
n.1039T>C
11g.70473235A>TCA475470652SHANK2c.3417T>A (p.Ala1139=)
c.962T>A (n.962T>A)
c.5184T>A (p.Ala1728=)
c.2693T>A
c.4047T>A (p.Ala1349=)
c.3474T>A (p.Ala1158=)
c.3420T>A (p.Ala1140=)
c.*188T>A (n.*188T>A)
c.3396T>A (p.Ala1132=)
c.960T>A
c.3021T>A (p.Ala1007=)
n.1936T>A
n.1038T>A
c.5154T>A (p.Ala1718=)
c.5196T>A (p.Ala1732=)
c.5175T>A (p.Ala1725=)
c.5169T>A (p.Ala1723=)
c.5148T>A (p.Ala1716=)
c.4059T>A (p.Ala1353=)
c.5157T>A (p.Ala1719=)
n.1039T>A
11g.70473236G>ACA381676224SHANK2c.3416C>T (p.Ala1139Val)
c.961C>T (n.961C>T)
c.5183C>T (p.Ala1728Val)
c.2692C>T
c.4046C>T (p.Ala1349Val)
c.3473C>T (p.Ala1158Val)
c.3419C>T (p.Ala1140Val)
c.*187C>T (n.*187C>T)
c.3395C>T (p.Ala1132Val)
c.959C>T
c.3020C>T (p.Ala1007Val)
n.1935C>T
n.1037C>T
c.5153C>T (p.Ala1718Val)
c.5195C>T (p.Ala1732Val)
c.5174C>T (p.Ala1725Val)
c.5168C>T (p.Ala1723Val)
c.5147C>T (p.Ala1716Val)
c.4058C>T (p.Ala1353Val)
c.5156C>T (p.Ala1719Val)
n.1038C>T
11g.70473236G>CCA381676225SHANK2c.3416C>G (p.Ala1139Gly)
c.961C>G (n.961C>G)
c.5183C>G (p.Ala1728Gly)
c.2692C>G
c.4046C>G (p.Ala1349Gly)
c.3473C>G (p.Ala1158Gly)
c.3419C>G (p.Ala1140Gly)
c.*187C>G (n.*187C>G)
c.3395C>G (p.Ala1132Gly)
c.959C>G
c.3020C>G (p.Ala1007Gly)
n.1935C>G
n.1037C>G
c.5153C>G (p.Ala1718Gly)
c.5195C>G (p.Ala1732Gly)
c.5174C>G (p.Ala1725Gly)
c.5168C>G (p.Ala1723Gly)
c.5147C>G (p.Ala1716Gly)
c.4058C>G (p.Ala1353Gly)
c.5156C>G (p.Ala1719Gly)
n.1038C>G
11g.70473236G>TCA381676226SHANK2c.3416C>A (p.Ala1139Asp)
c.961C>A (n.961C>A)
c.5183C>A (p.Ala1728Asp)
c.2692C>A
c.4046C>A (p.Ala1349Asp)
c.3473C>A (p.Ala1158Asp)
c.3419C>A (p.Ala1140Asp)
c.*187C>A (n.*187C>A)
c.3395C>A (p.Ala1132Asp)
c.959C>A
c.3020C>A (p.Ala1007Asp)
n.1935C>A
n.1037C>A
c.5153C>A (p.Ala1718Asp)
c.5195C>A (p.Ala1732Asp)
c.5174C>A (p.Ala1725Asp)
c.5168C>A (p.Ala1723Asp)
c.5147C>A (p.Ala1716Asp)
c.4058C>A (p.Ala1353Asp)
c.5156C>A (p.Ala1719Asp)
n.1038C>A
11g.70473237C>ACA381676227SHANK2c.3415G>T (p.Ala1139Ser)
c.960G>T (n.960G>T)
c.5182G>T (p.Ala1728Ser)
c.2691G>T
c.4045G>T (p.Ala1349Ser)
c.3472G>T (p.Ala1158Ser)
c.3418G>T (p.Ala1140Ser)
c.*186G>T (n.*186G>T)
c.3394G>T (p.Ala1132Ser)
c.958G>T
c.3019G>T (p.Ala1007Ser)
n.1934G>T
n.1036G>T
c.5152G>T (p.Ala1718Ser)
c.5194G>T (p.Ala1732Ser)
c.5173G>T (p.Ala1725Ser)
c.5167G>T (p.Ala1723Ser)
c.5146G>T (p.Ala1716Ser)
c.4057G>T (p.Ala1353Ser)
c.5155G>T (p.Ala1719Ser)
n.1037G>T
 gnomAD v4
11g.70473237C=CA1981067962SHANK2c.3415G= (p.Ala1139=)
c.960G= (n.960G=)
c.5182G= (p.Ala1728=)
c.2691G=
c.4045G= (p.Ala1349=)
c.3472G= (p.Ala1158=)
c.3418G= (p.Ala1140=)
c.*186G= (n.*186G=)
c.3394G= (p.Ala1132=)
c.958G=
c.3019G= (p.Ala1007=)
n.1934G=
n.1036G=
c.5152G= (p.Ala1718=)
c.5194G= (p.Ala1732=)
c.5173G= (p.Ala1725=)
c.5167G= (p.Ala1723=)
c.5146G= (p.Ala1716=)
c.4057G= (p.Ala1353=)
c.5155G= (p.Ala1719=)
n.1037G=
11g.70473237C>GCA381676228SHANK2c.3415G>C (p.Ala1139Pro)
c.960G>C (n.960G>C)
c.5182G>C (p.Ala1728Pro)
c.2691G>C
c.4045G>C (p.Ala1349Pro)
c.3472G>C (p.Ala1158Pro)
c.3418G>C (p.Ala1140Pro)
c.*186G>C (n.*186G>C)
c.3394G>C (p.Ala1132Pro)
c.958G>C
c.3019G>C (p.Ala1007Pro)
n.1934G>C
n.1036G>C
c.5152G>C (p.Ala1718Pro)
c.5194G>C (p.Ala1732Pro)
c.5173G>C (p.Ala1725Pro)
c.5167G>C (p.Ala1723Pro)
c.5146G>C (p.Ala1716Pro)
c.4057G>C (p.Ala1353Pro)
c.5155G>C (p.Ala1719Pro)
n.1037G>C
11g.70473237C>TCA6160751SHANK2c.3415G>A (p.Ala1139Thr)
c.960G>A (n.960G>A)
c.5182G>A (p.Ala1728Thr)
c.2691G>A
c.4045G>A (p.Ala1349Thr)
c.3472G>A (p.Ala1158Thr)
c.3418G>A (p.Ala1140Thr)
c.*186G>A (n.*186G>A)
c.3394G>A (p.Ala1132Thr)
c.958G>A
c.3019G>A (p.Ala1007Thr)
n.1934G>A
n.1036G>A
c.5152G>A (p.Ala1718Thr)
c.5194G>A (p.Ala1732Thr)
c.5173G>A (p.Ala1725Thr)
c.5167G>A (p.Ala1723Thr)
c.5146G>A (p.Ala1716Thr)
c.4057G>A (p.Ala1353Thr)
c.5155G>A (p.Ala1719Thr)
n.1037G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473238A>CCA475470660SHANK2c.3414T>G (p.Ser1138=)
c.959T>G (n.959T>G)
c.5181T>G (p.Ser1727=)
c.2690T>G
c.4044T>G (p.Ser1348=)
c.3471T>G (p.Ser1157=)
c.3417T>G (p.Ser1139=)
c.*185T>G (n.*185T>G)
c.3393T>G (p.Ser1131=)
c.957T>G
c.3018T>G (p.Ser1006=)
n.1933T>G
n.1035T>G
c.5151T>G (p.Ser1717=)
c.5193T>G (p.Ser1731=)
c.5172T>G (p.Ser1724=)
c.5166T>G (p.Ser1722=)
c.5145T>G (p.Ser1715=)
c.4056T>G (p.Ser1352=)
c.5154T>G (p.Ser1718=)
n.1036T>G
11g.70473238A>GCA475470659SHANK2c.3414T>C (p.Ser1138=)
c.959T>C (n.959T>C)
c.5181T>C (p.Ser1727=)
c.2690T>C
c.4044T>C (p.Ser1348=)
c.3471T>C (p.Ser1157=)
c.3417T>C (p.Ser1139=)
c.*185T>C (n.*185T>C)
c.3393T>C (p.Ser1131=)
c.957T>C
c.3018T>C (p.Ser1006=)
n.1933T>C
n.1035T>C
c.5151T>C (p.Ser1717=)
c.5193T>C (p.Ser1731=)
c.5172T>C (p.Ser1724=)
c.5166T>C (p.Ser1722=)
c.5145T>C (p.Ser1715=)
c.4056T>C (p.Ser1352=)
c.5154T>C (p.Ser1718=)
n.1036T>C
11g.70473238A>TCA475470658SHANK2c.3414T>A (p.Ser1138=)
c.959T>A (n.959T>A)
c.5181T>A (p.Ser1727=)
c.2690T>A
c.4044T>A (p.Ser1348=)
c.3471T>A (p.Ser1157=)
c.3417T>A (p.Ser1139=)
c.*185T>A (n.*185T>A)
c.3393T>A (p.Ser1131=)
c.957T>A
c.3018T>A (p.Ser1006=)
n.1933T>A
n.1035T>A
c.5151T>A (p.Ser1717=)
c.5193T>A (p.Ser1731=)
c.5172T>A (p.Ser1724=)
c.5166T>A (p.Ser1722=)
c.5145T>A (p.Ser1715=)
c.4056T>A (p.Ser1352=)
c.5154T>A (p.Ser1718=)
n.1036T>A
11g.70473239G>ACA381676229SHANK2c.3413C>T (p.Ser1138Phe)
c.958C>T (n.958C>T)
c.5180C>T (p.Ser1727Phe)
c.2689C>T
c.4043C>T (p.Ser1348Phe)
c.3470C>T (p.Ser1157Phe)
c.3416C>T (p.Ser1139Phe)
c.*184C>T (n.*184C>T)
c.3392C>T (p.Ser1131Phe)
c.956C>T
c.3017C>T (p.Ser1006Phe)
n.1932C>T
n.1034C>T
c.5150C>T (p.Ser1717Phe)
c.5192C>T (p.Ser1731Phe)
c.5171C>T (p.Ser1724Phe)
c.5165C>T (p.Ser1722Phe)
c.5144C>T (p.Ser1715Phe)
c.4055C>T (p.Ser1352Phe)
c.5153C>T (p.Ser1718Phe)
n.1035C>T
 gnomAD v4
11g.70473239G>CCA381676230SHANK2c.3413C>G (p.Ser1138Cys)
c.958C>G (n.958C>G)
c.5180C>G (p.Ser1727Cys)
c.2689C>G
c.4043C>G (p.Ser1348Cys)
c.3470C>G (p.Ser1157Cys)
c.3416C>G (p.Ser1139Cys)
c.*184C>G (n.*184C>G)
c.3392C>G (p.Ser1131Cys)
c.956C>G
c.3017C>G (p.Ser1006Cys)
n.1932C>G
n.1034C>G
c.5150C>G (p.Ser1717Cys)
c.5192C>G (p.Ser1731Cys)
c.5171C>G (p.Ser1724Cys)
c.5165C>G (p.Ser1722Cys)
c.5144C>G (p.Ser1715Cys)
c.4055C>G (p.Ser1352Cys)
c.5153C>G (p.Ser1718Cys)
n.1035C>G
11g.70473239G>TCA381676231SHANK2c.3413C>A (p.Ser1138Tyr)
c.958C>A (n.958C>A)
c.5180C>A (p.Ser1727Tyr)
c.2689C>A
c.4043C>A (p.Ser1348Tyr)
c.3470C>A (p.Ser1157Tyr)
c.3416C>A (p.Ser1139Tyr)
c.*184C>A (n.*184C>A)
c.3392C>A (p.Ser1131Tyr)
c.956C>A
c.3017C>A (p.Ser1006Tyr)
n.1932C>A
n.1034C>A
c.5150C>A (p.Ser1717Tyr)
c.5192C>A (p.Ser1731Tyr)
c.5171C>A (p.Ser1724Tyr)
c.5165C>A (p.Ser1722Tyr)
c.5144C>A (p.Ser1715Tyr)
c.4055C>A (p.Ser1352Tyr)
c.5153C>A (p.Ser1718Tyr)
n.1035C>A
 gnomAD v4
11g.70473240A>CCA381676232SHANK2c.3412T>G (p.Ser1138Ala)
c.957T>G (n.957T>G)
c.5179T>G (p.Ser1727Ala)
c.2688T>G
c.4042T>G (p.Ser1348Ala)
c.3469T>G (p.Ser1157Ala)
c.3415T>G (p.Ser1139Ala)
c.*183T>G (n.*183T>G)
c.3391T>G (p.Ser1131Ala)
c.955T>G
c.3016T>G (p.Ser1006Ala)
n.1931T>G
n.1033T>G
c.5149T>G (p.Ser1717Ala)
c.5191T>G (p.Ser1731Ala)
c.5170T>G (p.Ser1724Ala)
c.5164T>G (p.Ser1722Ala)
c.5143T>G (p.Ser1715Ala)
c.4054T>G (p.Ser1352Ala)
c.5152T>G (p.Ser1718Ala)
n.1034T>G
11g.70473240A>GCA381676233SHANK2c.3412T>C (p.Ser1138Pro)
c.957T>C (n.957T>C)
c.5179T>C (p.Ser1727Pro)
c.2688T>C
c.4042T>C (p.Ser1348Pro)
c.3469T>C (p.Ser1157Pro)
c.3415T>C (p.Ser1139Pro)
c.*183T>C (n.*183T>C)
c.3391T>C (p.Ser1131Pro)
c.955T>C
c.3016T>C (p.Ser1006Pro)
n.1931T>C
n.1033T>C
c.5149T>C (p.Ser1717Pro)
c.5191T>C (p.Ser1731Pro)
c.5170T>C (p.Ser1724Pro)
c.5164T>C (p.Ser1722Pro)
c.5143T>C (p.Ser1715Pro)
c.4054T>C (p.Ser1352Pro)
c.5152T>C (p.Ser1718Pro)
n.1034T>C
11g.70473240A>TCA381676234SHANK2c.3412T>A (p.Ser1138Thr)
c.957T>A (n.957T>A)
c.5179T>A (p.Ser1727Thr)
c.2688T>A
c.4042T>A (p.Ser1348Thr)
c.3469T>A (p.Ser1157Thr)
c.3415T>A (p.Ser1139Thr)
c.*183T>A (n.*183T>A)
c.3391T>A (p.Ser1131Thr)
c.955T>A
c.3016T>A (p.Ser1006Thr)
n.1931T>A
n.1033T>A
c.5149T>A (p.Ser1717Thr)
c.5191T>A (p.Ser1731Thr)
c.5170T>A (p.Ser1724Thr)
c.5164T>A (p.Ser1722Thr)
c.5143T>A (p.Ser1715Thr)
c.4054T>A (p.Ser1352Thr)
c.5152T>A (p.Ser1718Thr)
n.1034T>A
 gnomAD v4
11g.70473241C>ACA475470663SHANK2c.3411G>T (p.Leu1137=)
c.956G>T (n.956G>T)
c.5178G>T (p.Leu1726=)
c.2687G>T
c.4041G>T (p.Leu1347=)
c.3468G>T (p.Leu1156=)
c.3414G>T (p.Leu1138=)
c.*182G>T (n.*182G>T)
c.3390G>T (p.Leu1130=)
c.954G>T
c.3015G>T (p.Leu1005=)
n.1930G>T
n.1032G>T
c.5148G>T (p.Leu1716=)
c.5190G>T (p.Leu1730=)
c.5169G>T (p.Leu1723=)
c.5163G>T (p.Leu1721=)
c.5142G>T (p.Leu1714=)
c.4053G>T (p.Leu1351=)
c.5151G>T (p.Leu1717=)
n.1033G>T
11g.70473241C>GCA475470666SHANK2c.3411G>C (p.Leu1137=)
c.956G>C (n.956G>C)
c.5178G>C (p.Leu1726=)
c.2687G>C
c.4041G>C (p.Leu1347=)
c.3468G>C (p.Leu1156=)
c.3414G>C (p.Leu1138=)
c.*182G>C (n.*182G>C)
c.3390G>C (p.Leu1130=)
c.954G>C
c.3015G>C (p.Leu1005=)
n.1930G>C
n.1032G>C
c.5148G>C (p.Leu1716=)
c.5190G>C (p.Leu1730=)
c.5169G>C (p.Leu1723=)
c.5163G>C (p.Leu1721=)
c.5142G>C (p.Leu1714=)
c.4053G>C (p.Leu1351=)
c.5151G>C (p.Leu1717=)
n.1033G>C
11g.70473241C>TCA475470665SHANK2c.3411G>A (p.Leu1137=)
c.956G>A (n.956G>A)
c.5178G>A (p.Leu1726=)
c.2687G>A
c.4041G>A (p.Leu1347=)
c.3468G>A (p.Leu1156=)
c.3414G>A (p.Leu1138=)
c.*182G>A (n.*182G>A)
c.3390G>A (p.Leu1130=)
c.954G>A
c.3015G>A (p.Leu1005=)
n.1930G>A
n.1032G>A
c.5148G>A (p.Leu1716=)
c.5190G>A (p.Leu1730=)
c.5169G>A (p.Leu1723=)
c.5163G>A (p.Leu1721=)
c.5142G>A (p.Leu1714=)
c.4053G>A (p.Leu1351=)
c.5151G>A (p.Leu1717=)
n.1033G>A
11g.70473242A=CA1981067963SHANK2c.3410T= (p.Leu1137=)
c.955T= (n.955T=)
c.5177T= (p.Leu1726=)
c.2686T=
c.4040T= (p.Leu1347=)
c.3467T= (p.Leu1156=)
c.3413T= (p.Leu1138=)
c.*181T= (n.*181T=)
c.3389T= (p.Leu1130=)
c.953T=
c.3014T= (p.Leu1005=)
n.1929T=
n.1031T=
c.5147T= (p.Leu1716=)
c.5189T= (p.Leu1730=)
c.5168T= (p.Leu1723=)
c.5162T= (p.Leu1721=)
c.5141T= (p.Leu1714=)
c.4052T= (p.Leu1351=)
c.5150T= (p.Leu1717=)
n.1032T=
11g.70473242A>CCA381676235SHANK2c.3410T>G (p.Leu1137Arg)
c.955T>G (n.955T>G)
c.5177T>G (p.Leu1726Arg)
c.2686T>G
c.4040T>G (p.Leu1347Arg)
c.3467T>G (p.Leu1156Arg)
c.3413T>G (p.Leu1138Arg)
c.*181T>G (n.*181T>G)
c.3389T>G (p.Leu1130Arg)
c.953T>G
c.3014T>G (p.Leu1005Arg)
n.1929T>G
n.1031T>G
c.5147T>G (p.Leu1716Arg)
c.5189T>G (p.Leu1730Arg)
c.5168T>G (p.Leu1723Arg)
c.5162T>G (p.Leu1721Arg)
c.5141T>G (p.Leu1714Arg)
c.4052T>G (p.Leu1351Arg)
c.5150T>G (p.Leu1717Arg)
n.1032T>G
11g.70473242A>GCA381676236SHANK2c.3410T>C (p.Leu1137Pro)
c.955T>C (n.955T>C)
c.5177T>C (p.Leu1726Pro)
c.2686T>C
c.4040T>C (p.Leu1347Pro)
c.3467T>C (p.Leu1156Pro)
c.3413T>C (p.Leu1138Pro)
c.*181T>C (n.*181T>C)
c.3389T>C (p.Leu1130Pro)
c.953T>C
c.3014T>C (p.Leu1005Pro)
n.1929T>C
n.1031T>C
c.5147T>C (p.Leu1716Pro)
c.5189T>C (p.Leu1730Pro)
c.5168T>C (p.Leu1723Pro)
c.5162T>C (p.Leu1721Pro)
c.5141T>C (p.Leu1714Pro)
c.4052T>C (p.Leu1351Pro)
c.5150T>C (p.Leu1717Pro)
n.1032T>C
 dbSNP
11g.70473242A>TCA381676237SHANK2c.3410T>A (p.Leu1137Gln)
c.955T>A (n.955T>A)
c.5177T>A (p.Leu1726Gln)
c.2686T>A
c.4040T>A (p.Leu1347Gln)
c.3467T>A (p.Leu1156Gln)
c.3413T>A (p.Leu1138Gln)
c.*181T>A (n.*181T>A)
c.3389T>A (p.Leu1130Gln)
c.953T>A
c.3014T>A (p.Leu1005Gln)
n.1929T>A
n.1031T>A
c.5147T>A (p.Leu1716Gln)
c.5189T>A (p.Leu1730Gln)
c.5168T>A (p.Leu1723Gln)
c.5162T>A (p.Leu1721Gln)
c.5141T>A (p.Leu1714Gln)
c.4052T>A (p.Leu1351Gln)
c.5150T>A (p.Leu1717Gln)
n.1032T>A
 dbSNP
11g.70473242_70473243delCA2574908643SHANK2c.3409_3410del (p.Leu1137ValfsTer16)
c.954_955del (n.954_955del)
c.5176_5177del (p.Leu1726ValfsTer16)
c.2685_2686del
c.4039_4040del (p.Leu1347ValfsTer16)
c.3466_3467del (p.Leu1156ValfsTer16)
c.3412_3413del (p.Leu1138ValfsTer16)
c.*180_*181del (n.*180_*181del)
c.3388_3389del (p.Leu1130ValfsTer16)
c.952_953del
c.3013_3014del (p.Leu1005ValfsTer16)
n.1928_1929del
n.1030_1031del
c.5146_5147del (p.Leu1716ValfsTer16)
c.5188_5189del (p.Leu1730ValfsTer16)
c.5167_5168del (p.Leu1723ValfsTer16)
c.5161_5162del (p.Leu1721ValfsTer16)
c.5140_5141del (p.Leu1714ValfsTer16)
c.4051_4052del (p.Leu1351ValfsTer16)
c.5149_5150del (p.Leu1717ValfsTer16)
n.1031_1032del
 ClinVar
11g.70473243G>ACA475470667SHANK2c.3409C>T (p.Leu1137=)
c.954C>T (n.954C>T)
c.5176C>T (p.Leu1726=)
c.2685C>T
c.4039C>T (p.Leu1347=)
c.3466C>T (p.Leu1156=)
c.3412C>T (p.Leu1138=)
c.*180C>T (n.*180C>T)
c.3388C>T (p.Leu1130=)
c.952C>T
c.3013C>T (p.Leu1005=)
n.1928C>T
n.1030C>T
c.5146C>T (p.Leu1716=)
c.5188C>T (p.Leu1730=)
c.5167C>T (p.Leu1723=)
c.5161C>T (p.Leu1721=)
c.5140C>T (p.Leu1714=)
c.4051C>T (p.Leu1351=)
c.5149C>T (p.Leu1717=)
n.1031C>T
11g.70473243G>CCA381676238SHANK2c.3409C>G (p.Leu1137Val)
c.954C>G (n.954C>G)
c.5176C>G (p.Leu1726Val)
c.2685C>G
c.4039C>G (p.Leu1347Val)
c.3466C>G (p.Leu1156Val)
c.3412C>G (p.Leu1138Val)
c.*180C>G (n.*180C>G)
c.3388C>G (p.Leu1130Val)
c.952C>G
c.3013C>G (p.Leu1005Val)
n.1928C>G
n.1030C>G
c.5146C>G (p.Leu1716Val)
c.5188C>G (p.Leu1730Val)
c.5167C>G (p.Leu1723Val)
c.5161C>G (p.Leu1721Val)
c.5140C>G (p.Leu1714Val)
c.4051C>G (p.Leu1351Val)
c.5149C>G (p.Leu1717Val)
n.1031C>G
11g.70473243G=CA1981067964SHANK2c.3409C= (p.Leu1137=)
c.954C= (n.954C=)
c.5176C= (p.Leu1726=)
c.2685C=
c.4039C= (p.Leu1347=)
c.3466C= (p.Leu1156=)
c.3412C= (p.Leu1138=)
c.*180C= (n.*180C=)
c.3388C= (p.Leu1130=)
c.952C=
c.3013C= (p.Leu1005=)
n.1928C=
n.1030C=
c.5146C= (p.Leu1716=)
c.5188C= (p.Leu1730=)
c.5167C= (p.Leu1723=)
c.5161C= (p.Leu1721=)
c.5140C= (p.Leu1714=)
c.4051C= (p.Leu1351=)
c.5149C= (p.Leu1717=)
n.1031C=
11g.70473243G>TCA6160752SHANK2c.3409C>A (p.Leu1137Met)
c.954C>A (n.954C>A)
c.5176C>A (p.Leu1726Met)
c.2685C>A
c.4039C>A (p.Leu1347Met)
c.3466C>A (p.Leu1156Met)
c.3412C>A (p.Leu1138Met)
c.*180C>A (n.*180C>A)
c.3388C>A (p.Leu1130Met)
c.952C>A
c.3013C>A (p.Leu1005Met)
n.1928C>A
n.1030C>A
c.5146C>A (p.Leu1716Met)
c.5188C>A (p.Leu1730Met)
c.5167C>A (p.Leu1723Met)
c.5161C>A (p.Leu1721Met)
c.5140C>A (p.Leu1714Met)
c.4051C>A (p.Leu1351Met)
c.5149C>A (p.Leu1717Met)
n.1031C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473248dupCA2792603590SHANK2c.3409dup (p.Leu1137ProfsTer17)
c.954dup (n.954dup)
c.5176dup (p.Leu1726ProfsTer17)
c.2685dup
c.4039dup (p.Leu1347ProfsTer17)
c.3466dup (p.Leu1156ProfsTer17)
c.3412dup (p.Leu1138ProfsTer17)
c.*180dup (n.*180dup)
c.3388dup (p.Leu1130ProfsTer17)
c.952dup
c.3013dup (p.Leu1005ProfsTer17)
n.1928dup
n.1030dup
c.5146dup (p.Leu1716ProfsTer17)
c.5188dup (p.Leu1730ProfsTer17)
c.5167dup (p.Leu1723ProfsTer17)
c.5161dup (p.Leu1721ProfsTer17)
c.5140dup (p.Leu1714ProfsTer17)
c.4051dup (p.Leu1351ProfsTer17)
c.5149dup (p.Leu1717ProfsTer17)
n.1031dup
11g.70473248delCA645583697SHANK2c.3409del (p.Leu1137CysfsTer30)
c.954del (n.954del)
c.5176del (p.Leu1726CysfsTer30)
c.2685del
c.4039del (p.Leu1347CysfsTer30)
c.3466del (p.Leu1156CysfsTer30)
c.3412del (p.Leu1138CysfsTer30)
c.*180del (n.*180del)
c.3388del (p.Leu1130CysfsTer30)
c.952del
c.3013del (p.Leu1005CysfsTer30)
n.1928del
n.1030del
c.5146del (p.Leu1716CysfsTer30)
c.5188del (p.Leu1730CysfsTer30)
c.5167del (p.Leu1723CysfsTer30)
c.5161del (p.Leu1721CysfsTer30)
c.5140del (p.Leu1714CysfsTer30)
c.4051del (p.Leu1351CysfsTer30)
c.5149del (p.Leu1717CysfsTer30)
n.1031del
 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473244G>ACA475470669SHANK2c.3408C>T (p.Pro1136=)
c.953C>T (n.953C>T)
c.5175C>T (p.Pro1725=)
c.2684C>T
c.4038C>T (p.Pro1346=)
c.3465C>T (p.Pro1155=)
c.3411C>T (p.Pro1137=)
c.*179C>T (n.*179C>T)
c.3387C>T (p.Pro1129=)
c.951C>T
c.3012C>T (p.Pro1004=)
n.1927C>T
n.1029C>T
c.5145C>T (p.Pro1715=)
c.5187C>T (p.Pro1729=)
c.5166C>T (p.Pro1722=)
c.5160C>T (p.Pro1720=)
c.5139C>T (p.Pro1713=)
c.4050C>T (p.Pro1350=)
c.5148C>T (p.Pro1716=)
n.1030C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473244G>CCA475470671SHANK2c.3408C>G (p.Pro1136=)
c.953C>G (n.953C>G)
c.5175C>G (p.Pro1725=)
c.2684C>G
c.4038C>G (p.Pro1346=)
c.3465C>G (p.Pro1155=)
c.3411C>G (p.Pro1137=)
c.*179C>G (n.*179C>G)
c.3387C>G (p.Pro1129=)
c.951C>G
c.3012C>G (p.Pro1004=)
n.1927C>G
n.1029C>G
c.5145C>G (p.Pro1715=)
c.5187C>G (p.Pro1729=)
c.5166C>G (p.Pro1722=)
c.5160C>G (p.Pro1720=)
c.5139C>G (p.Pro1713=)
c.4050C>G (p.Pro1350=)
c.5148C>G (p.Pro1716=)
n.1030C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473244G=CA1981067965SHANK2c.3408C= (p.Pro1136=)
c.953C= (n.953C=)
c.5175C= (p.Pro1725=)
c.2684C=
c.4038C= (p.Pro1346=)
c.3465C= (p.Pro1155=)
c.3411C= (p.Pro1137=)
c.*179C= (n.*179C=)
c.3387C= (p.Pro1129=)
c.951C=
c.3012C= (p.Pro1004=)
n.1927C=
n.1029C=
c.5145C= (p.Pro1715=)
c.5187C= (p.Pro1729=)
c.5166C= (p.Pro1722=)
c.5160C= (p.Pro1720=)
c.5139C= (p.Pro1713=)
c.4050C= (p.Pro1350=)
c.5148C= (p.Pro1716=)
n.1030C=
11g.70473244G>TCA6160753SHANK2c.3408C>A (p.Pro1136=)
c.953C>A (n.953C>A)
c.5175C>A (p.Pro1725=)
c.2684C>A
c.4038C>A (p.Pro1346=)
c.3465C>A (p.Pro1155=)
c.3411C>A (p.Pro1137=)
c.*179C>A (n.*179C>A)
c.3387C>A (p.Pro1129=)
c.951C>A
c.3012C>A (p.Pro1004=)
n.1927C>A
n.1029C>A
c.5145C>A (p.Pro1715=)
c.5187C>A (p.Pro1729=)
c.5166C>A (p.Pro1722=)
c.5160C>A (p.Pro1720=)
c.5139C>A (p.Pro1713=)
c.4050C>A (p.Pro1350=)
c.5148C>A (p.Pro1716=)
n.1030C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473245G>ACA381676241SHANK2c.3407C>T (p.Pro1136Leu)
c.952C>T (n.952C>T)
c.5174C>T (p.Pro1725Leu)
c.2683C>T
c.4037C>T (p.Pro1346Leu)
c.3464C>T (p.Pro1155Leu)
c.3410C>T (p.Pro1137Leu)
c.*178C>T (n.*178C>T)
c.3386C>T (p.Pro1129Leu)
c.950C>T
c.3011C>T (p.Pro1004Leu)
n.1926C>T
n.1028C>T
c.5144C>T (p.Pro1715Leu)
c.5186C>T (p.Pro1729Leu)
c.5165C>T (p.Pro1722Leu)
c.5159C>T (p.Pro1720Leu)
c.5138C>T (p.Pro1713Leu)
c.4049C>T (p.Pro1350Leu)
c.5147C>T (p.Pro1716Leu)
n.1029C>T
 COSMIC COSMIC COSMIC
11g.70473245G>CCA381676240SHANK2c.3407C>G (p.Pro1136Arg)
c.952C>G (n.952C>G)
c.5174C>G (p.Pro1725Arg)
c.2683C>G
c.4037C>G (p.Pro1346Arg)
c.3464C>G (p.Pro1155Arg)
c.3410C>G (p.Pro1137Arg)
c.*178C>G (n.*178C>G)
c.3386C>G (p.Pro1129Arg)
c.950C>G
c.3011C>G (p.Pro1004Arg)
n.1926C>G
n.1028C>G
c.5144C>G (p.Pro1715Arg)
c.5186C>G (p.Pro1729Arg)
c.5165C>G (p.Pro1722Arg)
c.5159C>G (p.Pro1720Arg)
c.5138C>G (p.Pro1713Arg)
c.4049C>G (p.Pro1350Arg)
c.5147C>G (p.Pro1716Arg)
n.1029C>G
11g.70473245G>TCA381676239SHANK2c.3407C>A (p.Pro1136His)
c.952C>A (n.952C>A)
c.5174C>A (p.Pro1725His)
c.2683C>A
c.4037C>A (p.Pro1346His)
c.3464C>A (p.Pro1155His)
c.3410C>A (p.Pro1137His)
c.*178C>A (n.*178C>A)
c.3386C>A (p.Pro1129His)
c.950C>A
c.3011C>A (p.Pro1004His)
n.1926C>A
n.1028C>A
c.5144C>A (p.Pro1715His)
c.5186C>A (p.Pro1729His)
c.5165C>A (p.Pro1722His)
c.5159C>A (p.Pro1720His)
c.5138C>A (p.Pro1713His)
c.4049C>A (p.Pro1350His)
c.5147C>A (p.Pro1716His)
n.1029C>A
11g.70473246G>ACA6160754SHANK2c.3406C>T (p.Pro1136Ser)
c.951C>T (n.951C>T)
c.5173C>T (p.Pro1725Ser)
c.2682C>T
c.4036C>T (p.Pro1346Ser)
c.3463C>T (p.Pro1155Ser)
c.3409C>T (p.Pro1137Ser)
c.*177C>T (n.*177C>T)
c.3385C>T (p.Pro1129Ser)
c.949C>T
c.3010C>T (p.Pro1004Ser)
n.1925C>T
n.1027C>T
c.5143C>T (p.Pro1715Ser)
c.5185C>T (p.Pro1729Ser)
c.5164C>T (p.Pro1722Ser)
c.5158C>T (p.Pro1720Ser)
c.5137C>T (p.Pro1713Ser)
c.4048C>T (p.Pro1350Ser)
c.5146C>T (p.Pro1716Ser)
n.1028C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473246G>CCA381676242SHANK2c.3406C>G (p.Pro1136Ala)
c.951C>G (n.951C>G)
c.5173C>G (p.Pro1725Ala)
c.2682C>G
c.4036C>G (p.Pro1346Ala)
c.3463C>G (p.Pro1155Ala)
c.3409C>G (p.Pro1137Ala)
c.*177C>G (n.*177C>G)
c.3385C>G (p.Pro1129Ala)
c.949C>G
c.3010C>G (p.Pro1004Ala)
n.1925C>G
n.1027C>G
c.5143C>G (p.Pro1715Ala)
c.5185C>G (p.Pro1729Ala)
c.5164C>G (p.Pro1722Ala)
c.5158C>G (p.Pro1720Ala)
c.5137C>G (p.Pro1713Ala)
c.4048C>G (p.Pro1350Ala)
c.5146C>G (p.Pro1716Ala)
n.1028C>G
11g.70473246G=CA1981067966SHANK2c.3406C= (p.Pro1136=)
c.951C= (n.951C=)
c.5173C= (p.Pro1725=)
c.2682C=
c.4036C= (p.Pro1346=)
c.3463C= (p.Pro1155=)
c.3409C= (p.Pro1137=)
c.*177C= (n.*177C=)
c.3385C= (p.Pro1129=)
c.949C=
c.3010C= (p.Pro1004=)
n.1925C=
n.1027C=
c.5143C= (p.Pro1715=)
c.5185C= (p.Pro1729=)
c.5164C= (p.Pro1722=)
c.5158C= (p.Pro1720=)
c.5137C= (p.Pro1713=)
c.4048C= (p.Pro1350=)
c.5146C= (p.Pro1716=)
n.1028C=
11g.70473246G>TCA381676243SHANK2c.3406C>A (p.Pro1136Thr)
c.951C>A (n.951C>A)
c.5173C>A (p.Pro1725Thr)
c.2682C>A
c.4036C>A (p.Pro1346Thr)
c.3463C>A (p.Pro1155Thr)
c.3409C>A (p.Pro1137Thr)
c.*177C>A (n.*177C>A)
c.3385C>A (p.Pro1129Thr)
c.949C>A
c.3010C>A (p.Pro1004Thr)
n.1925C>A
n.1027C>A
c.5143C>A (p.Pro1715Thr)
c.5185C>A (p.Pro1729Thr)
c.5164C>A (p.Pro1722Thr)
c.5158C>A (p.Pro1720Thr)
c.5137C>A (p.Pro1713Thr)
c.4048C>A (p.Pro1350Thr)
c.5146C>A (p.Pro1716Thr)
n.1028C>A
 gnomAD v4
11g.70473247G>ACA475470674SHANK2c.3405C>T (p.Ala1135=)
c.950C>T (n.950C>T)
c.5172C>T (p.Ala1724=)
c.2681C>T
c.4035C>T (p.Ala1345=)
c.3462C>T (p.Ala1154=)
c.3408C>T (p.Ala1136=)
c.*176C>T (n.*176C>T)
c.3384C>T (p.Ala1128=)
c.948C>T
c.3009C>T (p.Ala1003=)
n.1924C>T
n.1026C>T
c.5142C>T (p.Ala1714=)
c.5184C>T (p.Ala1728=)
c.5163C>T (p.Ala1721=)
c.5157C>T (p.Ala1719=)
c.5136C>T (p.Ala1712=)
c.4047C>T (p.Ala1349=)
c.5145C>T (p.Ala1715=)
n.1027C>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473247G>CCA475470675SHANK2c.3405C>G (p.Ala1135=)
c.950C>G (n.950C>G)
c.5172C>G (p.Ala1724=)
c.2681C>G
c.4035C>G (p.Ala1345=)
c.3462C>G (p.Ala1154=)
c.3408C>G (p.Ala1136=)
c.*176C>G (n.*176C>G)
c.3384C>G (p.Ala1128=)
c.948C>G
c.3009C>G (p.Ala1003=)
n.1924C>G
n.1026C>G
c.5142C>G (p.Ala1714=)
c.5184C>G (p.Ala1728=)
c.5163C>G (p.Ala1721=)
c.5157C>G (p.Ala1719=)
c.5136C>G (p.Ala1712=)
c.4047C>G (p.Ala1349=)
c.5145C>G (p.Ala1715=)
n.1027C>G
11g.70473247G=CA1981067967SHANK2c.3405C= (p.Ala1135=)
c.950C= (n.950C=)
c.5172C= (p.Ala1724=)
c.2681C=
c.4035C= (p.Ala1345=)
c.3462C= (p.Ala1154=)
c.3408C= (p.Ala1136=)
c.*176C= (n.*176C=)
c.3384C= (p.Ala1128=)
c.948C=
c.3009C= (p.Ala1003=)
n.1924C=
n.1026C=
c.5142C= (p.Ala1714=)
c.5184C= (p.Ala1728=)
c.5163C= (p.Ala1721=)
c.5157C= (p.Ala1719=)
c.5136C= (p.Ala1712=)
c.4047C= (p.Ala1349=)
c.5145C= (p.Ala1715=)
n.1027C=
11g.70473247G>TCA475470676SHANK2c.3405C>A (p.Ala1135=)
c.950C>A (n.950C>A)
c.5172C>A (p.Ala1724=)
c.2681C>A
c.4035C>A (p.Ala1345=)
c.3462C>A (p.Ala1154=)
c.3408C>A (p.Ala1136=)
c.*176C>A (n.*176C>A)
c.3384C>A (p.Ala1128=)
c.948C>A
c.3009C>A (p.Ala1003=)
n.1924C>A
n.1026C>A
c.5142C>A (p.Ala1714=)
c.5184C>A (p.Ala1728=)
c.5163C>A (p.Ala1721=)
c.5157C>A (p.Ala1719=)
c.5136C>A (p.Ala1712=)
c.4047C>A (p.Ala1349=)
c.5145C>A (p.Ala1715=)
n.1027C>A
 gnomAD v4
11g.70473248G>ACA381676244SHANK2c.3404C>T (p.Ala1135Val)
c.949C>T (n.949C>T)
c.5171C>T (p.Ala1724Val)
c.2680C>T
c.4034C>T (p.Ala1345Val)
c.3461C>T (p.Ala1154Val)
c.3407C>T (p.Ala1136Val)
c.*175C>T (n.*175C>T)
c.3383C>T (p.Ala1128Val)
c.947C>T
c.3008C>T (p.Ala1003Val)
n.1923C>T
n.1025C>T
c.5141C>T (p.Ala1714Val)
c.5183C>T (p.Ala1728Val)
c.5162C>T (p.Ala1721Val)
c.5156C>T (p.Ala1719Val)
c.5135C>T (p.Ala1712Val)
c.4046C>T (p.Ala1349Val)
c.5144C>T (p.Ala1715Val)
n.1026C>T
11g.70473248G>CCA381676245SHANK2c.3404C>G (p.Ala1135Gly)
c.949C>G (n.949C>G)
c.5171C>G (p.Ala1724Gly)
c.2680C>G
c.4034C>G (p.Ala1345Gly)
c.3461C>G (p.Ala1154Gly)
c.3407C>G (p.Ala1136Gly)
c.*175C>G (n.*175C>G)
c.3383C>G (p.Ala1128Gly)
c.947C>G
c.3008C>G (p.Ala1003Gly)
n.1923C>G
n.1025C>G
c.5141C>G (p.Ala1714Gly)
c.5183C>G (p.Ala1728Gly)
c.5162C>G (p.Ala1721Gly)
c.5156C>G (p.Ala1719Gly)
c.5135C>G (p.Ala1712Gly)
c.4046C>G (p.Ala1349Gly)
c.5144C>G (p.Ala1715Gly)
n.1026C>G
11g.70473248G>TCA381676246SHANK2c.3404C>A (p.Ala1135Asp)
c.949C>A (n.949C>A)
c.5171C>A (p.Ala1724Asp)
c.2680C>A
c.4034C>A (p.Ala1345Asp)
c.3461C>A (p.Ala1154Asp)
c.3407C>A (p.Ala1136Asp)
c.*175C>A (n.*175C>A)
c.3383C>A (p.Ala1128Asp)
c.947C>A
c.3008C>A (p.Ala1003Asp)
n.1923C>A
n.1025C>A
c.5141C>A (p.Ala1714Asp)
c.5183C>A (p.Ala1728Asp)
c.5162C>A (p.Ala1721Asp)
c.5156C>A (p.Ala1719Asp)
c.5135C>A (p.Ala1712Asp)
c.4046C>A (p.Ala1349Asp)
c.5144C>A (p.Ala1715Asp)
n.1026C>A
11g.70473249C>ACA381676247SHANK2c.3403G>T (p.Ala1135Ser)
c.948G>T (n.948G>T)
c.5170G>T (p.Ala1724Ser)
c.2679G>T
c.4033G>T (p.Ala1345Ser)
c.3460G>T (p.Ala1154Ser)
c.3406G>T (p.Ala1136Ser)
c.*174G>T (n.*174G>T)
c.3382G>T (p.Ala1128Ser)
c.946G>T
c.3007G>T (p.Ala1003Ser)
n.1922G>T
n.1024G>T
c.5140G>T (p.Ala1714Ser)
c.5182G>T (p.Ala1728Ser)
c.5161G>T (p.Ala1721Ser)
c.5155G>T (p.Ala1719Ser)
c.5134G>T (p.Ala1712Ser)
c.4045G>T (p.Ala1349Ser)
c.5143G>T (p.Ala1715Ser)
n.1025G>T
11g.70473249C=CA1981067968SHANK2c.3403G= (p.Ala1135=)
c.948G= (n.948G=)
c.5170G= (p.Ala1724=)
c.2679G=
c.4033G= (p.Ala1345=)
c.3460G= (p.Ala1154=)
c.3406G= (p.Ala1136=)
c.*174G= (n.*174G=)
c.3382G= (p.Ala1128=)
c.946G=
c.3007G= (p.Ala1003=)
n.1922G=
n.1024G=
c.5140G= (p.Ala1714=)
c.5182G= (p.Ala1728=)
c.5161G= (p.Ala1721=)
c.5155G= (p.Ala1719=)
c.5134G= (p.Ala1712=)
c.4045G= (p.Ala1349=)
c.5143G= (p.Ala1715=)
n.1025G=
11g.70473249C>GCA381676248SHANK2c.3403G>C (p.Ala1135Pro)
c.948G>C (n.948G>C)
c.5170G>C (p.Ala1724Pro)
c.2679G>C
c.4033G>C (p.Ala1345Pro)
c.3460G>C (p.Ala1154Pro)
c.3406G>C (p.Ala1136Pro)
c.*174G>C (n.*174G>C)
c.3382G>C (p.Ala1128Pro)
c.946G>C
c.3007G>C (p.Ala1003Pro)
n.1922G>C
n.1024G>C
c.5140G>C (p.Ala1714Pro)
c.5182G>C (p.Ala1728Pro)
c.5161G>C (p.Ala1721Pro)
c.5155G>C (p.Ala1719Pro)
c.5134G>C (p.Ala1712Pro)
c.4045G>C (p.Ala1349Pro)
c.5143G>C (p.Ala1715Pro)
n.1025G>C
11g.70473249C>TCA6160755SHANK2c.3403G>A (p.Ala1135Thr)
c.948G>A (n.948G>A)
c.5170G>A (p.Ala1724Thr)
c.2679G>A
c.4033G>A (p.Ala1345Thr)
c.3460G>A (p.Ala1154Thr)
c.3406G>A (p.Ala1136Thr)
c.*174G>A (n.*174G>A)
c.3382G>A (p.Ala1128Thr)
c.946G>A
c.3007G>A (p.Ala1003Thr)
n.1922G>A
n.1024G>A
c.5140G>A (p.Ala1714Thr)
c.5182G>A (p.Ala1728Thr)
c.5161G>A (p.Ala1721Thr)
c.5155G>A (p.Ala1719Thr)
c.5134G>A (p.Ala1712Thr)
c.4045G>A (p.Ala1349Thr)
c.5143G>A (p.Ala1715Thr)
n.1025G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473250G>ACA6160756SHANK2c.3402C>T (p.Pro1134=)
c.947C>T (n.947C>T)
c.5169C>T (p.Pro1723=)
c.2678C>T
c.4032C>T (p.Pro1344=)
c.3459C>T (p.Pro1153=)
c.3405C>T (p.Pro1135=)
c.*173C>T (n.*173C>T)
c.3381C>T (p.Pro1127=)
c.945C>T
c.3006C>T (p.Pro1002=)
n.1921C>T
n.1023C>T
c.5139C>T (p.Pro1713=)
c.5181C>T (p.Pro1727=)
c.5160C>T (p.Pro1720=)
c.5154C>T (p.Pro1718=)
c.5133C>T (p.Pro1711=)
c.4044C>T (p.Pro1348=)
c.5142C>T (p.Pro1714=)
n.1024C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473250G>CCA475470680SHANK2c.3402C>G (p.Pro1134=)
c.947C>G (n.947C>G)
c.5169C>G (p.Pro1723=)
c.2678C>G
c.4032C>G (p.Pro1344=)
c.3459C>G (p.Pro1153=)
c.3405C>G (p.Pro1135=)
c.*173C>G (n.*173C>G)
c.3381C>G (p.Pro1127=)
c.945C>G
c.3006C>G (p.Pro1002=)
n.1921C>G
n.1023C>G
c.5139C>G (p.Pro1713=)
c.5181C>G (p.Pro1727=)
c.5160C>G (p.Pro1720=)
c.5154C>G (p.Pro1718=)
c.5133C>G (p.Pro1711=)
c.4044C>G (p.Pro1348=)
c.5142C>G (p.Pro1714=)
n.1024C>G
 dbSNP
11g.70473250G=CA1981067969SHANK2c.3402C= (p.Pro1134=)
c.947C= (n.947C=)
c.5169C= (p.Pro1723=)
c.2678C=
c.4032C= (p.Pro1344=)
c.3459C= (p.Pro1153=)
c.3405C= (p.Pro1135=)
c.*173C= (n.*173C=)
c.3381C= (p.Pro1127=)
c.945C=
c.3006C= (p.Pro1002=)
n.1921C=
n.1023C=
c.5139C= (p.Pro1713=)
c.5181C= (p.Pro1727=)
c.5160C= (p.Pro1720=)
c.5154C= (p.Pro1718=)
c.5133C= (p.Pro1711=)
c.4044C= (p.Pro1348=)
c.5142C= (p.Pro1714=)
n.1024C=
11g.70473250G>TCA475470681SHANK2c.3402C>A (p.Pro1134=)
c.947C>A (n.947C>A)
c.5169C>A (p.Pro1723=)
c.2678C>A
c.4032C>A (p.Pro1344=)
c.3459C>A (p.Pro1153=)
c.3405C>A (p.Pro1135=)
c.*173C>A (n.*173C>A)
c.3381C>A (p.Pro1127=)
c.945C>A
c.3006C>A (p.Pro1002=)
n.1921C>A
n.1023C>A
c.5139C>A (p.Pro1713=)
c.5181C>A (p.Pro1727=)
c.5160C>A (p.Pro1720=)
c.5154C>A (p.Pro1718=)
c.5133C>A (p.Pro1711=)
c.4044C>A (p.Pro1348=)
c.5142C>A (p.Pro1714=)
n.1024C>A
11g.70473251G>ACA381676249SHANK2c.3401C>T (p.Pro1134Leu)
c.946C>T (n.946C>T)
c.5168C>T (p.Pro1723Leu)
c.2677C>T
c.4031C>T (p.Pro1344Leu)
c.3458C>T (p.Pro1153Leu)
c.3404C>T (p.Pro1135Leu)
c.*172C>T (n.*172C>T)
c.3380C>T (p.Pro1127Leu)
c.944C>T
c.3005C>T (p.Pro1002Leu)
n.1920C>T
n.1022C>T
c.5138C>T (p.Pro1713Leu)
c.5180C>T (p.Pro1727Leu)
c.5159C>T (p.Pro1720Leu)
c.5153C>T (p.Pro1718Leu)
c.5132C>T (p.Pro1711Leu)
c.4043C>T (p.Pro1348Leu)
c.5141C>T (p.Pro1714Leu)
n.1023C>T
 gnomAD v4
11g.70473251G>CCA381676250SHANK2c.3401C>G (p.Pro1134Arg)
c.946C>G (n.946C>G)
c.5168C>G (p.Pro1723Arg)
c.2677C>G
c.4031C>G (p.Pro1344Arg)
c.3458C>G (p.Pro1153Arg)
c.3404C>G (p.Pro1135Arg)
c.*172C>G (n.*172C>G)
c.3380C>G (p.Pro1127Arg)
c.944C>G
c.3005C>G (p.Pro1002Arg)
n.1920C>G
n.1022C>G
c.5138C>G (p.Pro1713Arg)
c.5180C>G (p.Pro1727Arg)
c.5159C>G (p.Pro1720Arg)
c.5153C>G (p.Pro1718Arg)
c.5132C>G (p.Pro1711Arg)
c.4043C>G (p.Pro1348Arg)
c.5141C>G (p.Pro1714Arg)
n.1023C>G
11g.70473251G>TCA381676251SHANK2c.3401C>A (p.Pro1134His)
c.946C>A (n.946C>A)
c.5168C>A (p.Pro1723His)
c.2677C>A
c.4031C>A (p.Pro1344His)
c.3458C>A (p.Pro1153His)
c.3404C>A (p.Pro1135His)
c.*172C>A (n.*172C>A)
c.3380C>A (p.Pro1127His)
c.944C>A
c.3005C>A (p.Pro1002His)
n.1920C>A
n.1022C>A
c.5138C>A (p.Pro1713His)
c.5180C>A (p.Pro1727His)
c.5159C>A (p.Pro1720His)
c.5153C>A (p.Pro1718His)
c.5132C>A (p.Pro1711His)
c.4043C>A (p.Pro1348His)
c.5141C>A (p.Pro1714His)
n.1023C>A
11g.70473252G>ACA381676253SHANK2c.3400C>T (p.Pro1134Ser)
c.945C>T (n.945C>T)
c.5167C>T (p.Pro1723Ser)
c.2676C>T
c.4030C>T (p.Pro1344Ser)
c.3457C>T (p.Pro1153Ser)
c.3403C>T (p.Pro1135Ser)
c.*171C>T (n.*171C>T)
c.3379C>T (p.Pro1127Ser)
c.943C>T
c.3004C>T (p.Pro1002Ser)
n.1919C>T
n.1021C>T
c.5137C>T (p.Pro1713Ser)
c.5179C>T (p.Pro1727Ser)
c.5158C>T (p.Pro1720Ser)
c.5152C>T (p.Pro1718Ser)
c.5131C>T (p.Pro1711Ser)
c.4042C>T (p.Pro1348Ser)
c.5140C>T (p.Pro1714Ser)
n.1022C>T
11g.70473252G>CCA381676254SHANK2c.3400C>G (p.Pro1134Ala)
c.945C>G (n.945C>G)
c.5167C>G (p.Pro1723Ala)
c.2676C>G
c.4030C>G (p.Pro1344Ala)
c.3457C>G (p.Pro1153Ala)
c.3403C>G (p.Pro1135Ala)
c.*171C>G (n.*171C>G)
c.3379C>G (p.Pro1127Ala)
c.943C>G
c.3004C>G (p.Pro1002Ala)
n.1919C>G
n.1021C>G
c.5137C>G (p.Pro1713Ala)
c.5179C>G (p.Pro1727Ala)
c.5158C>G (p.Pro1720Ala)
c.5152C>G (p.Pro1718Ala)
c.5131C>G (p.Pro1711Ala)
c.4042C>G (p.Pro1348Ala)
c.5140C>G (p.Pro1714Ala)
n.1022C>G
11g.70473252G>TCA381676252SHANK2c.3400C>A (p.Pro1134Thr)
c.945C>A (n.945C>A)
c.5167C>A (p.Pro1723Thr)
c.2676C>A
c.4030C>A (p.Pro1344Thr)
c.3457C>A (p.Pro1153Thr)
c.3403C>A (p.Pro1135Thr)
c.*171C>A (n.*171C>A)
c.3379C>A (p.Pro1127Thr)
c.943C>A
c.3004C>A (p.Pro1002Thr)
n.1919C>A
n.1021C>A
c.5137C>A (p.Pro1713Thr)
c.5179C>A (p.Pro1727Thr)
c.5158C>A (p.Pro1720Thr)
c.5152C>A (p.Pro1718Thr)
c.5131C>A (p.Pro1711Thr)
c.4042C>A (p.Pro1348Thr)
c.5140C>A (p.Pro1714Thr)
n.1022C>A
 gnomAD v4
11g.70473253C>ACA475470685SHANK2c.3399G>T (p.Leu1133=)
c.944G>T (n.944G>T)
c.5166G>T (p.Leu1722=)
c.2675G>T
c.4029G>T (p.Leu1343=)
c.3456G>T (p.Leu1152=)
c.3402G>T (p.Leu1134=)
c.*170G>T (n.*170G>T)
c.3378G>T (p.Leu1126=)
c.942G>T
c.3003G>T (p.Leu1001=)
n.1918G>T
n.1020G>T
c.5136G>T (p.Leu1712=)
c.5178G>T (p.Leu1726=)
c.5157G>T (p.Leu1719=)
c.5151G>T (p.Leu1717=)
c.5130G>T (p.Leu1710=)
c.4041G>T (p.Leu1347=)
c.5139G>T (p.Leu1713=)
n.1021G>T
11g.70473253C>GCA475470687SHANK2c.3399G>C (p.Leu1133=)
c.944G>C (n.944G>C)
c.5166G>C (p.Leu1722=)
c.2675G>C
c.4029G>C (p.Leu1343=)
c.3456G>C (p.Leu1152=)
c.3402G>C (p.Leu1134=)
c.*170G>C (n.*170G>C)
c.3378G>C (p.Leu1126=)
c.942G>C
c.3003G>C (p.Leu1001=)
n.1918G>C
n.1020G>C
c.5136G>C (p.Leu1712=)
c.5178G>C (p.Leu1726=)
c.5157G>C (p.Leu1719=)
c.5151G>C (p.Leu1717=)
c.5130G>C (p.Leu1710=)
c.4041G>C (p.Leu1347=)
c.5139G>C (p.Leu1713=)
n.1021G>C
11g.70473253C>TCA475470688SHANK2c.3399G>A (p.Leu1133=)
c.944G>A (n.944G>A)
c.5166G>A (p.Leu1722=)
c.2675G>A
c.4029G>A (p.Leu1343=)
c.3456G>A (p.Leu1152=)
c.3402G>A (p.Leu1134=)
c.*170G>A (n.*170G>A)
c.3378G>A (p.Leu1126=)
c.942G>A
c.3003G>A (p.Leu1001=)
n.1918G>A
n.1020G>A
c.5136G>A (p.Leu1712=)
c.5178G>A (p.Leu1726=)
c.5157G>A (p.Leu1719=)
c.5151G>A (p.Leu1717=)
c.5130G>A (p.Leu1710=)
c.4041G>A (p.Leu1347=)
c.5139G>A (p.Leu1713=)
n.1021G>A
 gnomAD v4
11g.70473254A=CA1981067970SHANK2c.3398T= (p.Leu1133=)
c.943T= (n.943T=)
c.5165T= (p.Leu1722=)
c.2674T=
c.4028T= (p.Leu1343=)
c.3455T= (p.Leu1152=)
c.3401T= (p.Leu1134=)
c.*169T= (n.*169T=)
c.3377T= (p.Leu1126=)
c.941T=
c.3002T= (p.Leu1001=)
n.1917T=
n.1019T=
c.5135T= (p.Leu1712=)
c.5177T= (p.Leu1726=)
c.5156T= (p.Leu1719=)
c.5150T= (p.Leu1717=)
c.5129T= (p.Leu1710=)
c.4040T= (p.Leu1347=)
c.5138T= (p.Leu1713=)
n.1020T=
11g.70473254A>CCA381676255SHANK2c.3398T>G (p.Leu1133Arg)
c.943T>G (n.943T>G)
c.5165T>G (p.Leu1722Arg)
c.2674T>G
c.4028T>G (p.Leu1343Arg)
c.3455T>G (p.Leu1152Arg)
c.3401T>G (p.Leu1134Arg)
c.*169T>G (n.*169T>G)
c.3377T>G (p.Leu1126Arg)
c.941T>G
c.3002T>G (p.Leu1001Arg)
n.1917T>G
n.1019T>G
c.5135T>G (p.Leu1712Arg)
c.5177T>G (p.Leu1726Arg)
c.5156T>G (p.Leu1719Arg)
c.5150T>G (p.Leu1717Arg)
c.5129T>G (p.Leu1710Arg)
c.4040T>G (p.Leu1347Arg)
c.5138T>G (p.Leu1713Arg)
n.1020T>G
11g.70473254A>GCA6160757SHANK2c.3398T>C (p.Leu1133Pro)
c.943T>C (n.943T>C)
c.5165T>C (p.Leu1722Pro)
c.2674T>C
c.4028T>C (p.Leu1343Pro)
c.3455T>C (p.Leu1152Pro)
c.3401T>C (p.Leu1134Pro)
c.*169T>C (n.*169T>C)
c.3377T>C (p.Leu1126Pro)
c.941T>C
c.3002T>C (p.Leu1001Pro)
n.1917T>C
n.1019T>C
c.5135T>C (p.Leu1712Pro)
c.5177T>C (p.Leu1726Pro)
c.5156T>C (p.Leu1719Pro)
c.5150T>C (p.Leu1717Pro)
c.5129T>C (p.Leu1710Pro)
c.4040T>C (p.Leu1347Pro)
c.5138T>C (p.Leu1713Pro)
n.1020T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473254A>TCA381676256SHANK2c.3398T>A (p.Leu1133Gln)
c.943T>A (n.943T>A)
c.5165T>A (p.Leu1722Gln)
c.2674T>A
c.4028T>A (p.Leu1343Gln)
c.3455T>A (p.Leu1152Gln)
c.3401T>A (p.Leu1134Gln)
c.*169T>A (n.*169T>A)
c.3377T>A (p.Leu1126Gln)
c.941T>A
c.3002T>A (p.Leu1001Gln)
n.1917T>A
n.1019T>A
c.5135T>A (p.Leu1712Gln)
c.5177T>A (p.Leu1726Gln)
c.5156T>A (p.Leu1719Gln)
c.5150T>A (p.Leu1717Gln)
c.5129T>A (p.Leu1710Gln)
c.4040T>A (p.Leu1347Gln)
c.5138T>A (p.Leu1713Gln)
n.1020T>A
11g.70473255G>ACA475470692SHANK2c.3397C>T (p.Leu1133=)
c.942C>T (n.942C>T)
c.5164C>T (p.Leu1722=)
c.2673C>T
c.4027C>T (p.Leu1343=)
c.3454C>T (p.Leu1152=)
c.3400C>T (p.Leu1134=)
c.*168C>T (n.*168C>T)
c.3376C>T (p.Leu1126=)
c.940C>T
c.3001C>T (p.Leu1001=)
n.1916C>T
n.1018C>T
c.5134C>T (p.Leu1712=)
c.5176C>T (p.Leu1726=)
c.5155C>T (p.Leu1719=)
c.5149C>T (p.Leu1717=)
c.5128C>T (p.Leu1710=)
c.4039C>T (p.Leu1347=)
c.5137C>T (p.Leu1713=)
n.1019C>T
 gnomAD v4
11g.70473255G>CCA381676257SHANK2c.3397C>G (p.Leu1133Val)
c.942C>G (n.942C>G)
c.5164C>G (p.Leu1722Val)
c.2673C>G
c.4027C>G (p.Leu1343Val)
c.3454C>G (p.Leu1152Val)
c.3400C>G (p.Leu1134Val)
c.*168C>G (n.*168C>G)
c.3376C>G (p.Leu1126Val)
c.940C>G
c.3001C>G (p.Leu1001Val)
n.1916C>G
n.1018C>G
c.5134C>G (p.Leu1712Val)
c.5176C>G (p.Leu1726Val)
c.5155C>G (p.Leu1719Val)
c.5149C>G (p.Leu1717Val)
c.5128C>G (p.Leu1710Val)
c.4039C>G (p.Leu1347Val)
c.5137C>G (p.Leu1713Val)
n.1019C>G
11g.70473255G>TCA381676258SHANK2c.3397C>A (p.Leu1133Met)
c.942C>A (n.942C>A)
c.5164C>A (p.Leu1722Met)
c.2673C>A
c.4027C>A (p.Leu1343Met)
c.3454C>A (p.Leu1152Met)
c.3400C>A (p.Leu1134Met)
c.*168C>A (n.*168C>A)
c.3376C>A (p.Leu1126Met)
c.940C>A
c.3001C>A (p.Leu1001Met)
n.1916C>A
n.1018C>A
c.5134C>A (p.Leu1712Met)
c.5176C>A (p.Leu1726Met)
c.5155C>A (p.Leu1719Met)
c.5149C>A (p.Leu1717Met)
c.5128C>A (p.Leu1710Met)
c.4039C>A (p.Leu1347Met)
c.5137C>A (p.Leu1713Met)
n.1019C>A
11g.70473256G>ACA475470693SHANK2c.3396C>T (p.Thr1132=)
c.941C>T (n.941C>T)
c.5163C>T (p.Thr1721=)
c.2672C>T
c.4026C>T (p.Thr1342=)
c.3453C>T (p.Thr1151=)
c.3399C>T (p.Thr1133=)
c.*167C>T (n.*167C>T)
c.3375C>T (p.Thr1125=)
c.939C>T
c.3000C>T (p.Thr1000=)
n.1915C>T
n.1017C>T
c.5133C>T (p.Thr1711=)
c.5175C>T (p.Thr1725=)
c.5154C>T (p.Thr1718=)
c.5148C>T (p.Thr1716=)
c.5127C>T (p.Thr1709=)
c.4038C>T (p.Thr1346=)
c.5136C>T (p.Thr1712=)
n.1018C>T
11g.70473256G>CCA475470694SHANK2c.3396C>G (p.Thr1132=)
c.941C>G (n.941C>G)
c.5163C>G (p.Thr1721=)
c.2672C>G
c.4026C>G (p.Thr1342=)
c.3453C>G (p.Thr1151=)
c.3399C>G (p.Thr1133=)
c.*167C>G (n.*167C>G)
c.3375C>G (p.Thr1125=)
c.939C>G
c.3000C>G (p.Thr1000=)
n.1915C>G
n.1017C>G
c.5133C>G (p.Thr1711=)
c.5175C>G (p.Thr1725=)
c.5154C>G (p.Thr1718=)
c.5148C>G (p.Thr1716=)
c.5127C>G (p.Thr1709=)
c.4038C>G (p.Thr1346=)
c.5136C>G (p.Thr1712=)
n.1018C>G
11g.70473256G>TCA475470695SHANK2c.3396C>A (p.Thr1132=)
c.941C>A (n.941C>A)
c.5163C>A (p.Thr1721=)
c.2672C>A
c.4026C>A (p.Thr1342=)
c.3453C>A (p.Thr1151=)
c.3399C>A (p.Thr1133=)
c.*167C>A (n.*167C>A)
c.3375C>A (p.Thr1125=)
c.939C>A
c.3000C>A (p.Thr1000=)
n.1915C>A
n.1017C>A
c.5133C>A (p.Thr1711=)
c.5175C>A (p.Thr1725=)
c.5154C>A (p.Thr1718=)
c.5148C>A (p.Thr1716=)
c.5127C>A (p.Thr1709=)
c.4038C>A (p.Thr1346=)
c.5136C>A (p.Thr1712=)
n.1018C>A
11g.70473257G>ACA381676259SHANK2c.3395C>T (p.Thr1132Ile)
c.940C>T (n.940C>T)
c.5162C>T (p.Thr1721Ile)
c.2671C>T
c.4025C>T (p.Thr1342Ile)
c.3452C>T (p.Thr1151Ile)
c.3398C>T (p.Thr1133Ile)
c.*166C>T (n.*166C>T)
c.3374C>T (p.Thr1125Ile)
c.938C>T
c.2999C>T (p.Thr1000Ile)
n.1914C>T
n.1016C>T
c.5132C>T (p.Thr1711Ile)
c.5174C>T (p.Thr1725Ile)
c.5153C>T (p.Thr1718Ile)
c.5147C>T (p.Thr1716Ile)
c.5126C>T (p.Thr1709Ile)
c.4037C>T (p.Thr1346Ile)
c.5135C>T (p.Thr1712Ile)
n.1017C>T
11g.70473257G>CCA381676260SHANK2c.3395C>G (p.Thr1132Ser)
c.940C>G (n.940C>G)
c.5162C>G (p.Thr1721Ser)
c.2671C>G
c.4025C>G (p.Thr1342Ser)
c.3452C>G (p.Thr1151Ser)
c.3398C>G (p.Thr1133Ser)
c.*166C>G (n.*166C>G)
c.3374C>G (p.Thr1125Ser)
c.938C>G
c.2999C>G (p.Thr1000Ser)
n.1914C>G
n.1016C>G
c.5132C>G (p.Thr1711Ser)
c.5174C>G (p.Thr1725Ser)
c.5153C>G (p.Thr1718Ser)
c.5147C>G (p.Thr1716Ser)
c.5126C>G (p.Thr1709Ser)
c.4037C>G (p.Thr1346Ser)
c.5135C>G (p.Thr1712Ser)
n.1017C>G
11g.70473257G=CA1981067971SHANK2c.3395C= (p.Thr1132=)
c.940C= (n.940C=)
c.5162C= (p.Thr1721=)
c.2671C=
c.4025C= (p.Thr1342=)
c.3452C= (p.Thr1151=)
c.3398C= (p.Thr1133=)
c.*166C= (n.*166C=)
c.3374C= (p.Thr1125=)
c.938C=
c.2999C= (p.Thr1000=)
n.1914C=
n.1016C=
c.5132C= (p.Thr1711=)
c.5174C= (p.Thr1725=)
c.5153C= (p.Thr1718=)
c.5147C= (p.Thr1716=)
c.5126C= (p.Thr1709=)
c.4037C= (p.Thr1346=)
c.5135C= (p.Thr1712=)
n.1017C=
11g.70473257G>TCA381676261SHANK2c.3395C>A (p.Thr1132Asn)
c.940C>A (n.940C>A)
c.5162C>A (p.Thr1721Asn)
c.2671C>A
c.4025C>A (p.Thr1342Asn)
c.3452C>A (p.Thr1151Asn)
c.3398C>A (p.Thr1133Asn)
c.*166C>A (n.*166C>A)
c.3374C>A (p.Thr1125Asn)
c.938C>A
c.2999C>A (p.Thr1000Asn)
n.1914C>A
n.1016C>A
c.5132C>A (p.Thr1711Asn)
c.5174C>A (p.Thr1725Asn)
c.5153C>A (p.Thr1718Asn)
c.5147C>A (p.Thr1716Asn)
c.5126C>A (p.Thr1709Asn)
c.4037C>A (p.Thr1346Asn)
c.5135C>A (p.Thr1712Asn)
n.1017C>A
 dbSNP gnomAD v2 gnomAD v4
11g.70473258T>ACA381676262SHANK2c.3394A>T (p.Thr1132Ser)
c.939A>T (n.939A>T)
c.5161A>T (p.Thr1721Ser)
c.2670A>T
c.4024A>T (p.Thr1342Ser)
c.3451A>T (p.Thr1151Ser)
c.3397A>T (p.Thr1133Ser)
c.*165A>T (n.*165A>T)
c.3373A>T (p.Thr1125Ser)
c.937A>T
c.2998A>T (p.Thr1000Ser)
n.1913A>T
n.1015A>T
c.5131A>T (p.Thr1711Ser)
c.5173A>T (p.Thr1725Ser)
c.5152A>T (p.Thr1718Ser)
c.5146A>T (p.Thr1716Ser)
c.5125A>T (p.Thr1709Ser)
c.4036A>T (p.Thr1346Ser)
c.5134A>T (p.Thr1712Ser)
n.1016A>T
11g.70473258T>CCA381676263SHANK2c.3394A>G (p.Thr1132Ala)
c.939A>G (n.939A>G)
c.5161A>G (p.Thr1721Ala)
c.2670A>G
c.4024A>G (p.Thr1342Ala)
c.3451A>G (p.Thr1151Ala)
c.3397A>G (p.Thr1133Ala)
c.*165A>G (n.*165A>G)
c.3373A>G (p.Thr1125Ala)
c.937A>G
c.2998A>G (p.Thr1000Ala)
n.1913A>G
n.1015A>G
c.5131A>G (p.Thr1711Ala)
c.5173A>G (p.Thr1725Ala)
c.5152A>G (p.Thr1718Ala)
c.5146A>G (p.Thr1716Ala)
c.5125A>G (p.Thr1709Ala)
c.4036A>G (p.Thr1346Ala)
c.5134A>G (p.Thr1712Ala)
n.1016A>G
11g.70473258T>GCA381676264SHANK2c.3394A>C (p.Thr1132Pro)
c.939A>C (n.939A>C)
c.5161A>C (p.Thr1721Pro)
c.2670A>C
c.4024A>C (p.Thr1342Pro)
c.3451A>C (p.Thr1151Pro)
c.3397A>C (p.Thr1133Pro)
c.*165A>C (n.*165A>C)
c.3373A>C (p.Thr1125Pro)
c.937A>C
c.2998A>C (p.Thr1000Pro)
n.1913A>C
n.1015A>C
c.5131A>C (p.Thr1711Pro)
c.5173A>C (p.Thr1725Pro)
c.5152A>C (p.Thr1718Pro)
c.5146A>C (p.Thr1716Pro)
c.5125A>C (p.Thr1709Pro)
c.4036A>C (p.Thr1346Pro)
c.5134A>C (p.Thr1712Pro)
n.1016A>C
11g.70473259C>ACA381676265SHANK2c.3393G>T (p.Glu1131Asp)
c.938G>T (n.938G>T)
c.5160G>T (p.Glu1720Asp)
c.2669G>T
c.4023G>T (p.Glu1341Asp)
c.3450G>T (p.Glu1150Asp)
c.3396G>T (p.Glu1132Asp)
c.*164G>T (n.*164G>T)
c.3372G>T (p.Glu1124Asp)
c.936G>T
c.2997G>T (p.Glu999Asp)
n.1912G>T
n.1014G>T
c.5130G>T (p.Glu1710Asp)
c.5172G>T (p.Glu1724Asp)
c.5151G>T (p.Glu1717Asp)
c.5145G>T (p.Glu1715Asp)
c.5124G>T (p.Glu1708Asp)
c.4035G>T (p.Glu1345Asp)
c.5133G>T (p.Glu1711Asp)
n.1015G>T
11g.70473259C>GCA381676266SHANK2c.3393G>C (p.Glu1131Asp)
c.938G>C (n.938G>C)
c.5160G>C (p.Glu1720Asp)
c.2669G>C
c.4023G>C (p.Glu1341Asp)
c.3450G>C (p.Glu1150Asp)
c.3396G>C (p.Glu1132Asp)
c.*164G>C (n.*164G>C)
c.3372G>C (p.Glu1124Asp)
c.936G>C
c.2997G>C (p.Glu999Asp)
n.1912G>C
n.1014G>C
c.5130G>C (p.Glu1710Asp)
c.5172G>C (p.Glu1724Asp)
c.5151G>C (p.Glu1717Asp)
c.5145G>C (p.Glu1715Asp)
c.5124G>C (p.Glu1708Asp)
c.4035G>C (p.Glu1345Asp)
c.5133G>C (p.Glu1711Asp)
n.1015G>C
11g.70473259C>TCA475470700SHANK2c.3393G>A (p.Glu1131=)
c.938G>A (n.938G>A)
c.5160G>A (p.Glu1720=)
c.2669G>A
c.4023G>A (p.Glu1341=)
c.3450G>A (p.Glu1150=)
c.3396G>A (p.Glu1132=)
c.*164G>A (n.*164G>A)
c.3372G>A (p.Glu1124=)
c.936G>A
c.2997G>A (p.Glu999=)
n.1912G>A
n.1014G>A
c.5130G>A (p.Glu1710=)
c.5172G>A (p.Glu1724=)
c.5151G>A (p.Glu1717=)
c.5145G>A (p.Glu1715=)
c.5124G>A (p.Glu1708=)
c.4035G>A (p.Glu1345=)
c.5133G>A (p.Glu1711=)
n.1015G>A
11g.70473260T>ACA381676267SHANK2c.3392A>T (p.Glu1131Val)
c.937A>T (n.937A>T)
c.5159A>T (p.Glu1720Val)
c.2668A>T
c.4022A>T (p.Glu1341Val)
c.3449A>T (p.Glu1150Val)
c.3395A>T (p.Glu1132Val)
c.*163A>T (n.*163A>T)
c.3371A>T (p.Glu1124Val)
c.935A>T
c.2996A>T (p.Glu999Val)
n.1911A>T
n.1013A>T
c.5129A>T (p.Glu1710Val)
c.5171A>T (p.Glu1724Val)
c.5150A>T (p.Glu1717Val)
c.5144A>T (p.Glu1715Val)
c.5123A>T (p.Glu1708Val)
c.4034A>T (p.Glu1345Val)
c.5132A>T (p.Glu1711Val)
n.1014A>T
11g.70473260T>CCA381676268SHANK2c.3392A>G (p.Glu1131Gly)
c.937A>G (n.937A>G)
c.5159A>G (p.Glu1720Gly)
c.2668A>G
c.4022A>G (p.Glu1341Gly)
c.3449A>G (p.Glu1150Gly)
c.3395A>G (p.Glu1132Gly)
c.*163A>G (n.*163A>G)
c.3371A>G (p.Glu1124Gly)
c.935A>G
c.2996A>G (p.Glu999Gly)
n.1911A>G
n.1013A>G
c.5129A>G (p.Glu1710Gly)
c.5171A>G (p.Glu1724Gly)
c.5150A>G (p.Glu1717Gly)
c.5144A>G (p.Glu1715Gly)
c.5123A>G (p.Glu1708Gly)
c.4034A>G (p.Glu1345Gly)
c.5132A>G (p.Glu1711Gly)
n.1014A>G
11g.70473260T>GCA381676269SHANK2c.3392A>C (p.Glu1131Ala)
c.937A>C (n.937A>C)
c.5159A>C (p.Glu1720Ala)
c.2668A>C
c.4022A>C (p.Glu1341Ala)
c.3449A>C (p.Glu1150Ala)
c.3395A>C (p.Glu1132Ala)
c.*163A>C (n.*163A>C)
c.3371A>C (p.Glu1124Ala)
c.935A>C
c.2996A>C (p.Glu999Ala)
n.1911A>C
n.1013A>C
c.5129A>C (p.Glu1710Ala)
c.5171A>C (p.Glu1724Ala)
c.5150A>C (p.Glu1717Ala)
c.5144A>C (p.Glu1715Ala)
c.5123A>C (p.Glu1708Ala)
c.4034A>C (p.Glu1345Ala)
c.5132A>C (p.Glu1711Ala)
n.1014A>C
11g.70473261C>ACA381676270SHANK2c.3391G>T (p.Glu1131Ter)
c.936G>T (n.936G>T)
c.5158G>T (p.Glu1720Ter)
c.2667G>T
c.4021G>T (p.Glu1341Ter)
c.3448G>T (p.Glu1150Ter)
c.3394G>T (p.Glu1132Ter)
c.*162G>T (n.*162G>T)
c.3370G>T (p.Glu1124Ter)
c.934G>T
c.2995G>T (p.Glu999Ter)
n.1910G>T
n.1012G>T
c.5128G>T (p.Glu1710Ter)
c.5170G>T (p.Glu1724Ter)
c.5149G>T (p.Glu1717Ter)
c.5143G>T (p.Glu1715Ter)
c.5122G>T (p.Glu1708Ter)
c.4033G>T (p.Glu1345Ter)
c.5131G>T (p.Glu1711Ter)
n.1013G>T
11g.70473261C>GCA381676272SHANK2c.3391G>C (p.Glu1131Gln)
c.936G>C (n.936G>C)
c.5158G>C (p.Glu1720Gln)
c.2667G>C
c.4021G>C (p.Glu1341Gln)
c.3448G>C (p.Glu1150Gln)
c.3394G>C (p.Glu1132Gln)
c.*162G>C (n.*162G>C)
c.3370G>C (p.Glu1124Gln)
c.934G>C
c.2995G>C (p.Glu999Gln)
n.1910G>C
n.1012G>C
c.5128G>C (p.Glu1710Gln)
c.5170G>C (p.Glu1724Gln)
c.5149G>C (p.Glu1717Gln)
c.5143G>C (p.Glu1715Gln)
c.5122G>C (p.Glu1708Gln)
c.4033G>C (p.Glu1345Gln)
c.5131G>C (p.Glu1711Gln)
n.1013G>C
11g.70473261C>TCA381676271SHANK2c.3391G>A (p.Glu1131Lys)
c.936G>A (n.936G>A)
c.5158G>A (p.Glu1720Lys)
c.2667G>A
c.4021G>A (p.Glu1341Lys)
c.3448G>A (p.Glu1150Lys)
c.3394G>A (p.Glu1132Lys)
c.*162G>A (n.*162G>A)
c.3370G>A (p.Glu1124Lys)
c.934G>A
c.2995G>A (p.Glu999Lys)
n.1910G>A
n.1012G>A
c.5128G>A (p.Glu1710Lys)
c.5170G>A (p.Glu1724Lys)
c.5149G>A (p.Glu1717Lys)
c.5143G>A (p.Glu1715Lys)
c.5122G>A (p.Glu1708Lys)
c.4033G>A (p.Glu1345Lys)
c.5131G>A (p.Glu1711Lys)
n.1013G>A
11g.70473262T>ACA381676273SHANK2c.3390A>T (p.Lys1130Asn)
c.935A>T (n.935A>T)
c.5157A>T (p.Lys1719Asn)
c.2666A>T
c.4020A>T (p.Lys1340Asn)
c.3447A>T (p.Lys1149Asn)
c.3393A>T (p.Lys1131Asn)
c.*161A>T (n.*161A>T)
c.3369A>T (p.Lys1123Asn)
c.933A>T
c.2994A>T (p.Lys998Asn)
n.1909A>T
n.1011A>T
c.5127A>T (p.Lys1709Asn)
c.5169A>T (p.Lys1723Asn)
c.5148A>T (p.Lys1716Asn)
c.5142A>T (p.Lys1714Asn)
c.5121A>T (p.Lys1707Asn)
c.4032A>T (p.Lys1344Asn)
c.5130A>T (p.Lys1710Asn)
n.1012A>T
11g.70473262T>CCA475470701SHANK2c.3390A>G (p.Lys1130=)
c.935A>G (n.935A>G)
c.5157A>G (p.Lys1719=)
c.2666A>G
c.4020A>G (p.Lys1340=)
c.3447A>G (p.Lys1149=)
c.3393A>G (p.Lys1131=)
c.*161A>G (n.*161A>G)
c.3369A>G (p.Lys1123=)
c.933A>G
c.2994A>G (p.Lys998=)
n.1909A>G
n.1011A>G
c.5127A>G (p.Lys1709=)
c.5169A>G (p.Lys1723=)
c.5148A>G (p.Lys1716=)
c.5142A>G (p.Lys1714=)
c.5121A>G (p.Lys1707=)
c.4032A>G (p.Lys1344=)
c.5130A>G (p.Lys1710=)
n.1012A>G
11g.70473262T>GCA381676274SHANK2c.3390A>C (p.Lys1130Asn)
c.935A>C (n.935A>C)
c.5157A>C (p.Lys1719Asn)
c.2666A>C
c.4020A>C (p.Lys1340Asn)
c.3447A>C (p.Lys1149Asn)
c.3393A>C (p.Lys1131Asn)
c.*161A>C (n.*161A>C)
c.3369A>C (p.Lys1123Asn)
c.933A>C
c.2994A>C (p.Lys998Asn)
n.1909A>C
n.1011A>C
c.5127A>C (p.Lys1709Asn)
c.5169A>C (p.Lys1723Asn)
c.5148A>C (p.Lys1716Asn)
c.5142A>C (p.Lys1714Asn)
c.5121A>C (p.Lys1707Asn)
c.4032A>C (p.Lys1344Asn)
c.5130A>C (p.Lys1710Asn)
n.1012A>C
11g.70473263T>ACA381676275SHANK2c.3389A>T (p.Lys1130Ile)
c.934A>T (n.934A>T)
c.5156A>T (p.Lys1719Ile)
c.2665A>T
c.4019A>T (p.Lys1340Ile)
c.3446A>T (p.Lys1149Ile)
c.3392A>T (p.Lys1131Ile)
c.*160A>T (n.*160A>T)
c.3368A>T (p.Lys1123Ile)
c.932A>T
c.2993A>T (p.Lys998Ile)
n.1908A>T
n.1010A>T
c.5126A>T (p.Lys1709Ile)
c.5168A>T (p.Lys1723Ile)
c.5147A>T (p.Lys1716Ile)
c.5141A>T (p.Lys1714Ile)
c.5120A>T (p.Lys1707Ile)
c.4031A>T (p.Lys1344Ile)
c.5129A>T (p.Lys1710Ile)
n.1011A>T
11g.70473263T>CCA381676276SHANK2c.3389A>G (p.Lys1130Arg)
c.934A>G (n.934A>G)
c.5156A>G (p.Lys1719Arg)
c.2665A>G
c.4019A>G (p.Lys1340Arg)
c.3446A>G (p.Lys1149Arg)
c.3392A>G (p.Lys1131Arg)
c.*160A>G (n.*160A>G)
c.3368A>G (p.Lys1123Arg)
c.932A>G
c.2993A>G (p.Lys998Arg)
n.1908A>G
n.1010A>G
c.5126A>G (p.Lys1709Arg)
c.5168A>G (p.Lys1723Arg)
c.5147A>G (p.Lys1716Arg)
c.5141A>G (p.Lys1714Arg)
c.5120A>G (p.Lys1707Arg)
c.4031A>G (p.Lys1344Arg)
c.5129A>G (p.Lys1710Arg)
n.1011A>G
11g.70473263T>GCA6160758SHANK2c.3389A>C (p.Lys1130Thr)
c.934A>C (n.934A>C)
c.5156A>C (p.Lys1719Thr)
c.2665A>C
c.4019A>C (p.Lys1340Thr)
c.3446A>C (p.Lys1149Thr)
c.3392A>C (p.Lys1131Thr)
c.*160A>C (n.*160A>C)
c.3368A>C (p.Lys1123Thr)
c.932A>C
c.2993A>C (p.Lys998Thr)
n.1908A>C
n.1010A>C
c.5126A>C (p.Lys1709Thr)
c.5168A>C (p.Lys1723Thr)
c.5147A>C (p.Lys1716Thr)
c.5141A>C (p.Lys1714Thr)
c.5120A>C (p.Lys1707Thr)
c.4031A>C (p.Lys1344Thr)
c.5129A>C (p.Lys1710Thr)
n.1011A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473263T=CA1981067972SHANK2c.3389A= (p.Lys1130=)
c.934A= (n.934A=)
c.5156A= (p.Lys1719=)
c.2665A=
c.4019A= (p.Lys1340=)
c.3446A= (p.Lys1149=)
c.3392A= (p.Lys1131=)
c.*160A= (n.*160A=)
c.3368A= (p.Lys1123=)
c.932A=
c.2993A= (p.Lys998=)
n.1908A=
n.1010A=
c.5126A= (p.Lys1709=)
c.5168A= (p.Lys1723=)
c.5147A= (p.Lys1716=)
c.5141A= (p.Lys1714=)
c.5120A= (p.Lys1707=)
c.4031A= (p.Lys1344=)
c.5129A= (p.Lys1710=)
n.1011A=
11g.70473264T>ACA381676277SHANK2c.3388A>T (p.Lys1130Ter)
c.933A>T (n.933A>T)
c.5155A>T (p.Lys1719Ter)
c.2664A>T
c.4018A>T (p.Lys1340Ter)
c.3445A>T (p.Lys1149Ter)
c.3391A>T (p.Lys1131Ter)
c.*159A>T (n.*159A>T)
c.3367A>T (p.Lys1123Ter)
c.931A>T
c.2992A>T (p.Lys998Ter)
n.1907A>T
n.1009A>T
c.5125A>T (p.Lys1709Ter)
c.5167A>T (p.Lys1723Ter)
c.5146A>T (p.Lys1716Ter)
c.5140A>T (p.Lys1714Ter)
c.5119A>T (p.Lys1707Ter)
c.4030A>T (p.Lys1344Ter)
c.5128A>T (p.Lys1710Ter)
n.1010A>T
11g.70473264T>CCA381676278SHANK2c.3388A>G (p.Lys1130Glu)
c.933A>G (n.933A>G)
c.5155A>G (p.Lys1719Glu)
c.2664A>G
c.4018A>G (p.Lys1340Glu)
c.3445A>G (p.Lys1149Glu)
c.3391A>G (p.Lys1131Glu)
c.*159A>G (n.*159A>G)
c.3367A>G (p.Lys1123Glu)
c.931A>G
c.2992A>G (p.Lys998Glu)
n.1907A>G
n.1009A>G
c.5125A>G (p.Lys1709Glu)
c.5167A>G (p.Lys1723Glu)
c.5146A>G (p.Lys1716Glu)
c.5140A>G (p.Lys1714Glu)
c.5119A>G (p.Lys1707Glu)
c.4030A>G (p.Lys1344Glu)
c.5128A>G (p.Lys1710Glu)
n.1010A>G
11g.70473264T>GCA381676279SHANK2c.3388A>C (p.Lys1130Gln)
c.933A>C (n.933A>C)
c.5155A>C (p.Lys1719Gln)
c.2664A>C
c.4018A>C (p.Lys1340Gln)
c.3445A>C (p.Lys1149Gln)
c.3391A>C (p.Lys1131Gln)
c.*159A>C (n.*159A>C)
c.3367A>C (p.Lys1123Gln)
c.931A>C
c.2992A>C (p.Lys998Gln)
n.1907A>C
n.1009A>C
c.5125A>C (p.Lys1709Gln)
c.5167A>C (p.Lys1723Gln)
c.5146A>C (p.Lys1716Gln)
c.5140A>C (p.Lys1714Gln)
c.5119A>C (p.Lys1707Gln)
c.4030A>C (p.Lys1344Gln)
c.5128A>C (p.Lys1710Gln)
n.1010A>C
 dbSNP gnomAD v3 gnomAD v4
11g.70473264T=CA1981067973SHANK2c.3388A= (p.Lys1130=)
c.933A= (n.933A=)
c.5155A= (p.Lys1719=)
c.2664A=
c.4018A= (p.Lys1340=)
c.3445A= (p.Lys1149=)
c.3391A= (p.Lys1131=)
c.*159A= (n.*159A=)
c.3367A= (p.Lys1123=)
c.931A=
c.2992A= (p.Lys998=)
n.1907A=
n.1009A=
c.5125A= (p.Lys1709=)
c.5167A= (p.Lys1723=)
c.5146A= (p.Lys1716=)
c.5140A= (p.Lys1714=)
c.5119A= (p.Lys1707=)
c.4030A= (p.Lys1344=)
c.5128A= (p.Lys1710=)
n.1010A=
11g.70473265G>ACA475470704SHANK2c.3387C>T (p.Asn1129=)
c.932C>T (n.932C>T)
c.5154C>T (p.Asn1718=)
c.2663C>T
c.4017C>T (p.Asn1339=)
c.3444C>T (p.Asn1148=)
c.3390C>T (p.Asn1130=)
c.*158C>T (n.*158C>T)
c.3366C>T (p.Asn1122=)
c.930C>T
c.2991C>T (p.Asn997=)
n.1906C>T
n.1008C>T
c.5124C>T (p.Asn1708=)
c.5166C>T (p.Asn1722=)
c.5145C>T (p.Asn1715=)
c.5139C>T (p.Asn1713=)
c.5118C>T (p.Asn1706=)
c.4029C>T (p.Asn1343=)
c.5127C>T (p.Asn1709=)
n.1009C>T
 gnomAD v4
11g.70473265G>CCA381676280SHANK2c.3387C>G (p.Asn1129Lys)
c.932C>G (n.932C>G)
c.5154C>G (p.Asn1718Lys)
c.2663C>G
c.4017C>G (p.Asn1339Lys)
c.3444C>G (p.Asn1148Lys)
c.3390C>G (p.Asn1130Lys)
c.*158C>G (n.*158C>G)
c.3366C>G (p.Asn1122Lys)
c.930C>G
c.2991C>G (p.Asn997Lys)
n.1906C>G
n.1008C>G
c.5124C>G (p.Asn1708Lys)
c.5166C>G (p.Asn1722Lys)
c.5145C>G (p.Asn1715Lys)
c.5139C>G (p.Asn1713Lys)
c.5118C>G (p.Asn1706Lys)
c.4029C>G (p.Asn1343Lys)
c.5127C>G (p.Asn1709Lys)
n.1009C>G
11g.70473265G=CA1981067974SHANK2c.3387C= (p.Asn1129=)
c.932C= (n.932C=)
c.5154C= (p.Asn1718=)
c.2663C=
c.4017C= (p.Asn1339=)
c.3444C= (p.Asn1148=)
c.3390C= (p.Asn1130=)
c.*158C= (n.*158C=)
c.3366C= (p.Asn1122=)
c.930C=
c.2991C= (p.Asn997=)
n.1906C=
n.1008C=
c.5124C= (p.Asn1708=)
c.5166C= (p.Asn1722=)
c.5145C= (p.Asn1715=)
c.5139C= (p.Asn1713=)
c.5118C= (p.Asn1706=)
c.4029C= (p.Asn1343=)
c.5127C= (p.Asn1709=)
n.1009C=
11g.70473265G>TCA6160759SHANK2c.3387C>A (p.Asn1129Lys)
c.932C>A (n.932C>A)
c.5154C>A (p.Asn1718Lys)
c.2663C>A
c.4017C>A (p.Asn1339Lys)
c.3444C>A (p.Asn1148Lys)
c.3390C>A (p.Asn1130Lys)
c.*158C>A (n.*158C>A)
c.3366C>A (p.Asn1122Lys)
c.930C>A
c.2991C>A (p.Asn997Lys)
n.1906C>A
n.1008C>A
c.5124C>A (p.Asn1708Lys)
c.5166C>A (p.Asn1722Lys)
c.5145C>A (p.Asn1715Lys)
c.5139C>A (p.Asn1713Lys)
c.5118C>A (p.Asn1706Lys)
c.4029C>A (p.Asn1343Lys)
c.5127C>A (p.Asn1709Lys)
n.1009C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473266T>ACA381676282SHANK2c.3386A>T (p.Asn1129Ile)
c.931A>T (n.931A>T)
c.5153A>T (p.Asn1718Ile)
c.2662A>T
c.4016A>T (p.Asn1339Ile)
c.3443A>T (p.Asn1148Ile)
c.3389A>T (p.Asn1130Ile)
c.*157A>T (n.*157A>T)
c.3365A>T (p.Asn1122Ile)
c.929A>T
c.2990A>T (p.Asn997Ile)
n.1905A>T
n.1007A>T
c.5123A>T (p.Asn1708Ile)
c.5165A>T (p.Asn1722Ile)
c.5144A>T (p.Asn1715Ile)
c.5138A>T (p.Asn1713Ile)
c.5117A>T (p.Asn1706Ile)
c.4028A>T (p.Asn1343Ile)
c.5126A>T (p.Asn1709Ile)
n.1008A>T
11g.70473266T>CCA381676283SHANK2c.3386A>G (p.Asn1129Ser)
c.931A>G (n.931A>G)
c.5153A>G (p.Asn1718Ser)
c.2662A>G
c.4016A>G (p.Asn1339Ser)
c.3443A>G (p.Asn1148Ser)
c.3389A>G (p.Asn1130Ser)
c.*157A>G (n.*157A>G)
c.3365A>G (p.Asn1122Ser)
c.929A>G
c.2990A>G (p.Asn997Ser)
n.1905A>G
n.1007A>G
c.5123A>G (p.Asn1708Ser)
c.5165A>G (p.Asn1722Ser)
c.5144A>G (p.Asn1715Ser)
c.5138A>G (p.Asn1713Ser)
c.5117A>G (p.Asn1706Ser)
c.4028A>G (p.Asn1343Ser)
c.5126A>G (p.Asn1709Ser)
n.1008A>G
11g.70473266T>GCA381676281SHANK2c.3386A>C (p.Asn1129Thr)
c.931A>C (n.931A>C)
c.5153A>C (p.Asn1718Thr)
c.2662A>C
c.4016A>C (p.Asn1339Thr)
c.3443A>C (p.Asn1148Thr)
c.3389A>C (p.Asn1130Thr)
c.*157A>C (n.*157A>C)
c.3365A>C (p.Asn1122Thr)
c.929A>C
c.2990A>C (p.Asn997Thr)
n.1905A>C
n.1007A>C
c.5123A>C (p.Asn1708Thr)
c.5165A>C (p.Asn1722Thr)
c.5144A>C (p.Asn1715Thr)
c.5138A>C (p.Asn1713Thr)
c.5117A>C (p.Asn1706Thr)
c.4028A>C (p.Asn1343Thr)
c.5126A>C (p.Asn1709Thr)
n.1008A>C
11g.70473267T>ACA381676284SHANK2c.3385A>T (p.Asn1129Tyr)
c.930A>T (n.930A>T)
c.5152A>T (p.Asn1718Tyr)
c.2661A>T
c.4015A>T (p.Asn1339Tyr)
c.3442A>T (p.Asn1148Tyr)
c.3388A>T (p.Asn1130Tyr)
c.*156A>T (n.*156A>T)
c.3364A>T (p.Asn1122Tyr)
c.928A>T
c.2989A>T (p.Asn997Tyr)
n.1904A>T
n.1006A>T
c.5122A>T (p.Asn1708Tyr)
c.5164A>T (p.Asn1722Tyr)
c.5143A>T (p.Asn1715Tyr)
c.5137A>T (p.Asn1713Tyr)
c.5116A>T (p.Asn1706Tyr)
c.4027A>T (p.Asn1343Tyr)
c.5125A>T (p.Asn1709Tyr)
n.1007A>T
11g.70473267T>CCA381676285SHANK2c.3385A>G (p.Asn1129Asp)
c.930A>G (n.930A>G)
c.5152A>G (p.Asn1718Asp)
c.2661A>G
c.4015A>G (p.Asn1339Asp)
c.3442A>G (p.Asn1148Asp)
c.3388A>G (p.Asn1130Asp)
c.*156A>G (n.*156A>G)
c.3364A>G (p.Asn1122Asp)
c.928A>G
c.2989A>G (p.Asn997Asp)
n.1904A>G
n.1006A>G
c.5122A>G (p.Asn1708Asp)
c.5164A>G (p.Asn1722Asp)
c.5143A>G (p.Asn1715Asp)
c.5137A>G (p.Asn1713Asp)
c.5116A>G (p.Asn1706Asp)
c.4027A>G (p.Asn1343Asp)
c.5125A>G (p.Asn1709Asp)
n.1007A>G
11g.70473267T>GCA381676286SHANK2c.3385A>C (p.Asn1129His)
c.930A>C (n.930A>C)
c.5152A>C (p.Asn1718His)
c.2661A>C
c.4015A>C (p.Asn1339His)
c.3442A>C (p.Asn1148His)
c.3388A>C (p.Asn1130His)
c.*156A>C (n.*156A>C)
c.3364A>C (p.Asn1122His)
c.928A>C
c.2989A>C (p.Asn997His)
n.1904A>C
n.1006A>C
c.5122A>C (p.Asn1708His)
c.5164A>C (p.Asn1722His)
c.5143A>C (p.Asn1715His)
c.5137A>C (p.Asn1713His)
c.5116A>C (p.Asn1706His)
c.4027A>C (p.Asn1343His)
c.5125A>C (p.Asn1709His)
n.1007A>C
11g.70473268C>ACA381676287SHANK2c.3384G>T (p.Met1128Ile)
c.929G>T (n.929G>T)
c.5151G>T (p.Met1717Ile)
c.2660G>T
c.4014G>T (p.Met1338Ile)
c.3441G>T (p.Met1147Ile)
c.3387G>T (p.Met1129Ile)
c.*155G>T (n.*155G>T)
c.3363G>T (p.Met1121Ile)
c.927G>T
c.2988G>T (p.Met996Ile)
n.1903G>T
n.1005G>T
c.5121G>T (p.Met1707Ile)
c.5163G>T (p.Met1721Ile)
c.5142G>T (p.Met1714Ile)
c.5136G>T (p.Met1712Ile)
c.5115G>T (p.Met1705Ile)
c.4026G>T (p.Met1342Ile)
c.5124G>T (p.Met1708Ile)
n.1006G>T
11g.70473268C=CA1981067975SHANK2c.3384G= (p.Met1128=)
c.929G= (n.929G=)
c.5151G= (p.Met1717=)
c.2660G=
c.4014G= (p.Met1338=)
c.3441G= (p.Met1147=)
c.3387G= (p.Met1129=)
c.*155G= (n.*155G=)
c.3363G= (p.Met1121=)
c.927G=
c.2988G= (p.Met996=)
n.1903G=
n.1005G=
c.5121G= (p.Met1707=)
c.5163G= (p.Met1721=)
c.5142G= (p.Met1714=)
c.5136G= (p.Met1712=)
c.5115G= (p.Met1705=)
c.4026G= (p.Met1342=)
c.5124G= (p.Met1708=)
n.1006G=
11g.70473268C>GCA6160760SHANK2c.3384G>C (p.Met1128Ile)
c.929G>C (n.929G>C)
c.5151G>C (p.Met1717Ile)
c.2660G>C
c.4014G>C (p.Met1338Ile)
c.3441G>C (p.Met1147Ile)
c.3387G>C (p.Met1129Ile)
c.*155G>C (n.*155G>C)
c.3363G>C (p.Met1121Ile)
c.927G>C
c.2988G>C (p.Met996Ile)
n.1903G>C
n.1005G>C
c.5121G>C (p.Met1707Ile)
c.5163G>C (p.Met1721Ile)
c.5142G>C (p.Met1714Ile)
c.5136G>C (p.Met1712Ile)
c.5115G>C (p.Met1705Ile)
c.4026G>C (p.Met1342Ile)
c.5124G>C (p.Met1708Ile)
n.1006G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473268C>TCA214637SHANK2c.3384G>A (p.Met1128Ile)
c.929G>A (n.929G>A)
c.5151G>A (p.Met1717Ile)
c.2660G>A
c.4014G>A (p.Met1338Ile)
c.3441G>A (p.Met1147Ile)
c.3387G>A (p.Met1129Ile)
c.*155G>A (n.*155G>A)
c.3363G>A (p.Met1121Ile)
c.927G>A
c.2988G>A (p.Met996Ile)
n.1903G>A
n.1005G>A
c.5121G>A (p.Met1707Ile)
c.5163G>A (p.Met1721Ile)
c.5142G>A (p.Met1714Ile)
c.5136G>A (p.Met1712Ile)
c.5115G>A (p.Met1705Ile)
c.4026G>A (p.Met1342Ile)
c.5124G>A (p.Met1708Ile)
n.1006G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473269A>CCA381676290SHANK2c.3383T>G (p.Met1128Arg)
c.928T>G (n.928T>G)
c.5150T>G (p.Met1717Arg)
c.2659T>G
c.4013T>G (p.Met1338Arg)
c.3440T>G (p.Met1147Arg)
c.3386T>G (p.Met1129Arg)
c.*154T>G (n.*154T>G)
c.3362T>G (p.Met1121Arg)
c.926T>G
c.2987T>G (p.Met996Arg)
n.1902T>G
n.1004T>G
c.5120T>G (p.Met1707Arg)
c.5162T>G (p.Met1721Arg)
c.5141T>G (p.Met1714Arg)
c.5135T>G (p.Met1712Arg)
c.5114T>G (p.Met1705Arg)
c.4025T>G (p.Met1342Arg)
c.5123T>G (p.Met1708Arg)
n.1005T>G
11g.70473269A>GCA381676288SHANK2c.3383T>C (p.Met1128Thr)
c.928T>C (n.928T>C)
c.5150T>C (p.Met1717Thr)
c.2659T>C
c.4013T>C (p.Met1338Thr)
c.3440T>C (p.Met1147Thr)
c.3386T>C (p.Met1129Thr)
c.*154T>C (n.*154T>C)
c.3362T>C (p.Met1121Thr)
c.926T>C
c.2987T>C (p.Met996Thr)
n.1902T>C
n.1004T>C
c.5120T>C (p.Met1707Thr)
c.5162T>C (p.Met1721Thr)
c.5141T>C (p.Met1714Thr)
c.5135T>C (p.Met1712Thr)
c.5114T>C (p.Met1705Thr)
c.4025T>C (p.Met1342Thr)
c.5123T>C (p.Met1708Thr)
n.1005T>C
11g.70473269A>TCA381676289SHANK2c.3383T>A (p.Met1128Lys)
c.928T>A (n.928T>A)
c.5150T>A (p.Met1717Lys)
c.2659T>A
c.4013T>A (p.Met1338Lys)
c.3440T>A (p.Met1147Lys)
c.3386T>A (p.Met1129Lys)
c.*154T>A (n.*154T>A)
c.3362T>A (p.Met1121Lys)
c.926T>A
c.2987T>A (p.Met996Lys)
n.1902T>A
n.1004T>A
c.5120T>A (p.Met1707Lys)
c.5162T>A (p.Met1721Lys)
c.5141T>A (p.Met1714Lys)
c.5135T>A (p.Met1712Lys)
c.5114T>A (p.Met1705Lys)
c.4025T>A (p.Met1342Lys)
c.5123T>A (p.Met1708Lys)
n.1005T>A
 gnomAD v4
11g.70473270T>ACA381676291SHANK2c.3382A>T (p.Met1128Leu)
c.927A>T (n.927A>T)
c.5149A>T (p.Met1717Leu)
c.2658A>T
c.4012A>T (p.Met1338Leu)
c.3439A>T (p.Met1147Leu)
c.3385A>T (p.Met1129Leu)
c.*153A>T (n.*153A>T)
c.3361A>T (p.Met1121Leu)
c.925A>T
c.2986A>T (p.Met996Leu)
n.1901A>T
n.1003A>T
c.5119A>T (p.Met1707Leu)
c.5161A>T (p.Met1721Leu)
c.5140A>T (p.Met1714Leu)
c.5134A>T (p.Met1712Leu)
c.5113A>T (p.Met1705Leu)
c.4024A>T (p.Met1342Leu)
c.5122A>T (p.Met1708Leu)
n.1004A>T
11g.70473270T>CCA381676292SHANK2c.3382A>G (p.Met1128Val)
c.927A>G (n.927A>G)
c.5149A>G (p.Met1717Val)
c.2658A>G
c.4012A>G (p.Met1338Val)
c.3439A>G (p.Met1147Val)
c.3385A>G (p.Met1129Val)
c.*153A>G (n.*153A>G)
c.3361A>G (p.Met1121Val)
c.925A>G
c.2986A>G (p.Met996Val)
n.1901A>G
n.1003A>G
c.5119A>G (p.Met1707Val)
c.5161A>G (p.Met1721Val)
c.5140A>G (p.Met1714Val)
c.5134A>G (p.Met1712Val)
c.5113A>G (p.Met1705Val)
c.4024A>G (p.Met1342Val)
c.5122A>G (p.Met1708Val)
n.1004A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473270T>GCA381676293SHANK2c.3382A>C (p.Met1128Leu)
c.927A>C (n.927A>C)
c.5149A>C (p.Met1717Leu)
c.2658A>C
c.4012A>C (p.Met1338Leu)
c.3439A>C (p.Met1147Leu)
c.3385A>C (p.Met1129Leu)
c.*153A>C (n.*153A>C)
c.3361A>C (p.Met1121Leu)
c.925A>C
c.2986A>C (p.Met996Leu)
n.1901A>C
n.1003A>C
c.5119A>C (p.Met1707Leu)
c.5161A>C (p.Met1721Leu)
c.5140A>C (p.Met1714Leu)
c.5134A>C (p.Met1712Leu)
c.5113A>C (p.Met1705Leu)
c.4024A>C (p.Met1342Leu)
c.5122A>C (p.Met1708Leu)
n.1004A>C
11g.70473270T=CA1981067976SHANK2c.3382A= (p.Met1128=)
c.927A= (n.927A=)
c.5149A= (p.Met1717=)
c.2658A=
c.4012A= (p.Met1338=)
c.3439A= (p.Met1147=)
c.3385A= (p.Met1129=)
c.*153A= (n.*153A=)
c.3361A= (p.Met1121=)
c.925A=
c.2986A= (p.Met996=)
n.1901A=
n.1003A=
c.5119A= (p.Met1707=)
c.5161A= (p.Met1721=)
c.5140A= (p.Met1714=)
c.5134A= (p.Met1712=)
c.5113A= (p.Met1705=)
c.4024A= (p.Met1342=)
c.5122A= (p.Met1708=)
n.1004A=
11g.70473271C>ACA6160761SHANK2c.3381G>T (p.Glu1127Asp)
c.926G>T (n.926G>T)
c.5148G>T (p.Glu1716Asp)
c.2657G>T
c.4011G>T (p.Glu1337Asp)
c.3438G>T (p.Glu1146Asp)
c.3384G>T (p.Glu1128Asp)
c.*152G>T (n.*152G>T)
c.3360G>T (p.Glu1120Asp)
c.924G>T
c.2985G>T (p.Glu995Asp)
n.1900G>T
n.1002G>T
c.5118G>T (p.Glu1706Asp)
c.5160G>T (p.Glu1720Asp)
c.5139G>T (p.Glu1713Asp)
c.5133G>T (p.Glu1711Asp)
c.5112G>T (p.Glu1704Asp)
c.4023G>T (p.Glu1341Asp)
c.5121G>T (p.Glu1707Asp)
n.1003G>T
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.70473271C=CA1981067977SHANK2c.3381G= (p.Glu1127=)
c.926G= (n.926G=)
c.5148G= (p.Glu1716=)
c.2657G=
c.4011G= (p.Glu1337=)
c.3438G= (p.Glu1146=)
c.3384G= (p.Glu1128=)
c.*152G= (n.*152G=)
c.3360G= (p.Glu1120=)
c.924G=
c.2985G= (p.Glu995=)
n.1900G=
n.1002G=
c.5118G= (p.Glu1706=)
c.5160G= (p.Glu1720=)
c.5139G= (p.Glu1713=)
c.5133G= (p.Glu1711=)
c.5112G= (p.Glu1704=)
c.4023G= (p.Glu1341=)
c.5121G= (p.Glu1707=)
n.1003G=
11g.70473271C>GCA381676294SHANK2c.3381G>C (p.Glu1127Asp)
c.926G>C (n.926G>C)
c.5148G>C (p.Glu1716Asp)
c.2657G>C
c.4011G>C (p.Glu1337Asp)
c.3438G>C (p.Glu1146Asp)
c.3384G>C (p.Glu1128Asp)
c.*152G>C (n.*152G>C)
c.3360G>C (p.Glu1120Asp)
c.924G>C
c.2985G>C (p.Glu995Asp)
n.1900G>C
n.1002G>C
c.5118G>C (p.Glu1706Asp)
c.5160G>C (p.Glu1720Asp)
c.5139G>C (p.Glu1713Asp)
c.5133G>C (p.Glu1711Asp)
c.5112G>C (p.Glu1704Asp)
c.4023G>C (p.Glu1341Asp)
c.5121G>C (p.Glu1707Asp)
n.1003G>C
11g.70473271C>TCA475470705SHANK2c.3381G>A (p.Glu1127=)
c.926G>A (n.926G>A)
c.5148G>A (p.Glu1716=)
c.2657G>A
c.4011G>A (p.Glu1337=)
c.3438G>A (p.Glu1146=)
c.3384G>A (p.Glu1128=)
c.*152G>A (n.*152G>A)
c.3360G>A (p.Glu1120=)
c.924G>A
c.2985G>A (p.Glu995=)
n.1900G>A
n.1002G>A
c.5118G>A (p.Glu1706=)
c.5160G>A (p.Glu1720=)
c.5139G>A (p.Glu1713=)
c.5133G>A (p.Glu1711=)
c.5112G>A (p.Glu1704=)
c.4023G>A (p.Glu1341=)
c.5121G>A (p.Glu1707=)
n.1003G>A
 dbSNP gnomAD v4
11g.70473272T>ACA381676295SHANK2c.3380A>T (p.Glu1127Val)
c.925A>T (n.925A>T)
c.5147A>T (p.Glu1716Val)
c.2656A>T
c.4010A>T (p.Glu1337Val)
c.3437A>T (p.Glu1146Val)
c.3383A>T (p.Glu1128Val)
c.*151A>T (n.*151A>T)
c.3359A>T (p.Glu1120Val)
c.923A>T
c.2984A>T (p.Glu995Val)
n.1899A>T
n.1001A>T
c.5117A>T (p.Glu1706Val)
c.5159A>T (p.Glu1720Val)
c.5138A>T (p.Glu1713Val)
c.5132A>T (p.Glu1711Val)
c.5111A>T (p.Glu1704Val)
c.4022A>T (p.Glu1341Val)
c.5120A>T (p.Glu1707Val)
n.1002A>T
11g.70473272T>CCA381676297SHANK2c.3380A>G (p.Glu1127Gly)
c.925A>G (n.925A>G)
c.5147A>G (p.Glu1716Gly)
c.2656A>G
c.4010A>G (p.Glu1337Gly)
c.3437A>G (p.Glu1146Gly)
c.3383A>G (p.Glu1128Gly)
c.*151A>G (n.*151A>G)
c.3359A>G (p.Glu1120Gly)
c.923A>G
c.2984A>G (p.Glu995Gly)
n.1899A>G
n.1001A>G
c.5117A>G (p.Glu1706Gly)
c.5159A>G (p.Glu1720Gly)
c.5138A>G (p.Glu1713Gly)
c.5132A>G (p.Glu1711Gly)
c.5111A>G (p.Glu1704Gly)
c.4022A>G (p.Glu1341Gly)
c.5120A>G (p.Glu1707Gly)
n.1002A>G
11g.70473272T>GCA381676296SHANK2c.3380A>C (p.Glu1127Ala)
c.925A>C (n.925A>C)
c.5147A>C (p.Glu1716Ala)
c.2656A>C
c.4010A>C (p.Glu1337Ala)
c.3437A>C (p.Glu1146Ala)
c.3383A>C (p.Glu1128Ala)
c.*151A>C (n.*151A>C)
c.3359A>C (p.Glu1120Ala)
c.923A>C
c.2984A>C (p.Glu995Ala)
n.1899A>C
n.1001A>C
c.5117A>C (p.Glu1706Ala)
c.5159A>C (p.Glu1720Ala)
c.5138A>C (p.Glu1713Ala)
c.5132A>C (p.Glu1711Ala)
c.5111A>C (p.Glu1704Ala)
c.4022A>C (p.Glu1341Ala)
c.5120A>C (p.Glu1707Ala)
n.1002A>C
11g.70473273C>ACA381676298SHANK2c.3379G>T (p.Glu1127Ter)
c.924G>T (n.924G>T)
c.5146G>T (p.Glu1716Ter)
c.2655G>T
c.4009G>T (p.Glu1337Ter)
c.3436G>T (p.Glu1146Ter)
c.3382G>T (p.Glu1128Ter)
c.*150G>T (n.*150G>T)
c.3358G>T (p.Glu1120Ter)
c.922G>T
c.2983G>T (p.Glu995Ter)
n.1898G>T
n.1000G>T
c.5116G>T (p.Glu1706Ter)
c.5158G>T (p.Glu1720Ter)
c.5137G>T (p.Glu1713Ter)
c.5131G>T (p.Glu1711Ter)
c.5110G>T (p.Glu1704Ter)
c.4021G>T (p.Glu1341Ter)
c.5119G>T (p.Glu1707Ter)
n.1001G>T
11g.70473273C>GCA381676299SHANK2c.3379G>C (p.Glu1127Gln)
c.924G>C (n.924G>C)
c.5146G>C (p.Glu1716Gln)
c.2655G>C
c.4009G>C (p.Glu1337Gln)
c.3436G>C (p.Glu1146Gln)
c.3382G>C (p.Glu1128Gln)
c.*150G>C (n.*150G>C)
c.3358G>C (p.Glu1120Gln)
c.922G>C
c.2983G>C (p.Glu995Gln)
n.1898G>C
n.1000G>C
c.5116G>C (p.Glu1706Gln)
c.5158G>C (p.Glu1720Gln)
c.5137G>C (p.Glu1713Gln)
c.5131G>C (p.Glu1711Gln)
c.5110G>C (p.Glu1704Gln)
c.4021G>C (p.Glu1341Gln)
c.5119G>C (p.Glu1707Gln)
n.1001G>C
 gnomAD v4
11g.70473273C>TCA381676300SHANK2c.3379G>A (p.Glu1127Lys)
c.924G>A (n.924G>A)
c.5146G>A (p.Glu1716Lys)
c.2655G>A
c.4009G>A (p.Glu1337Lys)
c.3436G>A (p.Glu1146Lys)
c.3382G>A (p.Glu1128Lys)
c.*150G>A (n.*150G>A)
c.3358G>A (p.Glu1120Lys)
c.922G>A
c.2983G>A (p.Glu995Lys)
n.1898G>A
n.1000G>A
c.5116G>A (p.Glu1706Lys)
c.5158G>A (p.Glu1720Lys)
c.5137G>A (p.Glu1713Lys)
c.5131G>A (p.Glu1711Lys)
c.5110G>A (p.Glu1704Lys)
c.4021G>A (p.Glu1341Lys)
c.5119G>A (p.Glu1707Lys)
n.1001G>A
11g.70473274T>ACA475470706SHANK2c.3378A>T (p.Thr1126=)
c.923A>T (n.923A>T)
c.5145A>T (p.Thr1715=)
c.2654A>T
c.4008A>T (p.Thr1336=)
c.3435A>T (p.Thr1145=)
c.3381A>T (p.Thr1127=)
c.*149A>T (n.*149A>T)
c.3357A>T (p.Thr1119=)
c.921A>T
c.2982A>T (p.Thr994=)
n.1897A>T
n.999A>T
c.5115A>T (p.Thr1705=)
c.5157A>T (p.Thr1719=)
c.5136A>T (p.Thr1712=)
c.5130A>T (p.Thr1710=)
c.5109A>T (p.Thr1703=)
c.4020A>T (p.Thr1340=)
c.5118A>T (p.Thr1706=)
n.1000A>T
11g.70473274T>CCA475470707SHANK2c.3378A>G (p.Thr1126=)
c.923A>G (n.923A>G)
c.5145A>G (p.Thr1715=)
c.2654A>G
c.4008A>G (p.Thr1336=)
c.3435A>G (p.Thr1145=)
c.3381A>G (p.Thr1127=)
c.*149A>G (n.*149A>G)
c.3357A>G (p.Thr1119=)
c.921A>G
c.2982A>G (p.Thr994=)
n.1897A>G
n.999A>G
c.5115A>G (p.Thr1705=)
c.5157A>G (p.Thr1719=)
c.5136A>G (p.Thr1712=)
c.5130A>G (p.Thr1710=)
c.5109A>G (p.Thr1703=)
c.4020A>G (p.Thr1340=)
c.5118A>G (p.Thr1706=)
n.1000A>G
11g.70473274T>GCA475470708SHANK2c.3378A>C (p.Thr1126=)
c.923A>C (n.923A>C)
c.5145A>C (p.Thr1715=)
c.2654A>C
c.4008A>C (p.Thr1336=)
c.3435A>C (p.Thr1145=)
c.3381A>C (p.Thr1127=)
c.*149A>C (n.*149A>C)
c.3357A>C (p.Thr1119=)
c.921A>C
c.2982A>C (p.Thr994=)
n.1897A>C
n.999A>C
c.5115A>C (p.Thr1705=)
c.5157A>C (p.Thr1719=)
c.5136A>C (p.Thr1712=)
c.5130A>C (p.Thr1710=)
c.5109A>C (p.Thr1703=)
c.4020A>C (p.Thr1340=)
c.5118A>C (p.Thr1706=)
n.1000A>C
11g.70473275G>ACA381676301SHANK2c.3377C>T (p.Thr1126Ile)
c.922C>T (n.922C>T)
c.5144C>T (p.Thr1715Ile)
c.2653C>T
c.4007C>T (p.Thr1336Ile)
c.3434C>T (p.Thr1145Ile)
c.3380C>T (p.Thr1127Ile)
c.*148C>T (n.*148C>T)
c.3356C>T (p.Thr1119Ile)
c.920C>T
c.2981C>T (p.Thr994Ile)
n.1896C>T
n.998C>T
c.5114C>T (p.Thr1705Ile)
c.5156C>T (p.Thr1719Ile)
c.5135C>T (p.Thr1712Ile)
c.5129C>T (p.Thr1710Ile)
c.5108C>T (p.Thr1703Ile)
c.4019C>T (p.Thr1340Ile)
c.5117C>T (p.Thr1706Ile)
n.999C>T
 dbSNP gnomAD v3 gnomAD v4
11g.70473275G>CCA381676302SHANK2c.3377C>G (p.Thr1126Arg)
c.922C>G (n.922C>G)
c.5144C>G (p.Thr1715Arg)
c.2653C>G
c.4007C>G (p.Thr1336Arg)
c.3434C>G (p.Thr1145Arg)
c.3380C>G (p.Thr1127Arg)
c.*148C>G (n.*148C>G)
c.3356C>G (p.Thr1119Arg)
c.920C>G
c.2981C>G (p.Thr994Arg)
n.1896C>G
n.998C>G
c.5114C>G (p.Thr1705Arg)
c.5156C>G (p.Thr1719Arg)
c.5135C>G (p.Thr1712Arg)
c.5129C>G (p.Thr1710Arg)
c.5108C>G (p.Thr1703Arg)
c.4019C>G (p.Thr1340Arg)
c.5117C>G (p.Thr1706Arg)
n.999C>G
11g.70473275G=CA1981067978SHANK2c.3377C= (p.Thr1126=)
c.922C= (n.922C=)
c.5144C= (p.Thr1715=)
c.2653C=
c.4007C= (p.Thr1336=)
c.3434C= (p.Thr1145=)
c.3380C= (p.Thr1127=)
c.*148C= (n.*148C=)
c.3356C= (p.Thr1119=)
c.920C=
c.2981C= (p.Thr994=)
n.1896C=
n.998C=
c.5114C= (p.Thr1705=)
c.5156C= (p.Thr1719=)
c.5135C= (p.Thr1712=)
c.5129C= (p.Thr1710=)
c.5108C= (p.Thr1703=)
c.4019C= (p.Thr1340=)
c.5117C= (p.Thr1706=)
n.999C=
11g.70473275G>TCA381676303SHANK2c.3377C>A (p.Thr1126Lys)
c.922C>A (n.922C>A)
c.5144C>A (p.Thr1715Lys)
c.2653C>A
c.4007C>A (p.Thr1336Lys)
c.3434C>A (p.Thr1145Lys)
c.3380C>A (p.Thr1127Lys)
c.*148C>A (n.*148C>A)
c.3356C>A (p.Thr1119Lys)
c.920C>A
c.2981C>A (p.Thr994Lys)
n.1896C>A
n.998C>A
c.5114C>A (p.Thr1705Lys)
c.5156C>A (p.Thr1719Lys)
c.5135C>A (p.Thr1712Lys)
c.5129C>A (p.Thr1710Lys)
c.5108C>A (p.Thr1703Lys)
c.4019C>A (p.Thr1340Lys)
c.5117C>A (p.Thr1706Lys)
n.999C>A
11g.70473276T>ACA381676304SHANK2c.3376A>T (p.Thr1126Ser)
c.921A>T (n.921A>T)
c.5143A>T (p.Thr1715Ser)
c.2652A>T
c.4006A>T (p.Thr1336Ser)
c.3433A>T (p.Thr1145Ser)
c.3379A>T (p.Thr1127Ser)
c.*147A>T (n.*147A>T)
c.3355A>T (p.Thr1119Ser)
c.919A>T
c.2980A>T (p.Thr994Ser)
n.1895A>T
n.997A>T
c.5113A>T (p.Thr1705Ser)
c.5155A>T (p.Thr1719Ser)
c.5134A>T (p.Thr1712Ser)
c.5128A>T (p.Thr1710Ser)
c.5107A>T (p.Thr1703Ser)
c.4018A>T (p.Thr1340Ser)
c.5116A>T (p.Thr1706Ser)
n.998A>T
11g.70473276T>CCA381676305SHANK2c.3376A>G (p.Thr1126Ala)
c.921A>G (n.921A>G)
c.5143A>G (p.Thr1715Ala)
c.2652A>G
c.4006A>G (p.Thr1336Ala)
c.3433A>G (p.Thr1145Ala)
c.3379A>G (p.Thr1127Ala)
c.*147A>G (n.*147A>G)
c.3355A>G (p.Thr1119Ala)
c.919A>G
c.2980A>G (p.Thr994Ala)
n.1895A>G
n.997A>G
c.5113A>G (p.Thr1705Ala)
c.5155A>G (p.Thr1719Ala)
c.5134A>G (p.Thr1712Ala)
c.5128A>G (p.Thr1710Ala)
c.5107A>G (p.Thr1703Ala)
c.4018A>G (p.Thr1340Ala)
c.5116A>G (p.Thr1706Ala)
n.998A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473276T>GCA381676306SHANK2c.3376A>C (p.Thr1126Pro)
c.921A>C (n.921A>C)
c.5143A>C (p.Thr1715Pro)
c.2652A>C
c.4006A>C (p.Thr1336Pro)
c.3433A>C (p.Thr1145Pro)
c.3379A>C (p.Thr1127Pro)
c.*147A>C (n.*147A>C)
c.3355A>C (p.Thr1119Pro)
c.919A>C
c.2980A>C (p.Thr994Pro)
n.1895A>C
n.997A>C
c.5113A>C (p.Thr1705Pro)
c.5155A>C (p.Thr1719Pro)
c.5134A>C (p.Thr1712Pro)
c.5128A>C (p.Thr1710Pro)
c.5107A>C (p.Thr1703Pro)
c.4018A>C (p.Thr1340Pro)
c.5116A>C (p.Thr1706Pro)
n.998A>C
11g.70473276T=CA1981067979SHANK2c.3376A= (p.Thr1126=)
c.921A= (n.921A=)
c.5143A= (p.Thr1715=)
c.2652A=
c.4006A= (p.Thr1336=)
c.3433A= (p.Thr1145=)
c.3379A= (p.Thr1127=)
c.*147A= (n.*147A=)
c.3355A= (p.Thr1119=)
c.919A=
c.2980A= (p.Thr994=)
n.1895A=
n.997A=
c.5113A= (p.Thr1705=)
c.5155A= (p.Thr1719=)
c.5134A= (p.Thr1712=)
c.5128A= (p.Thr1710=)
c.5107A= (p.Thr1703=)
c.4018A= (p.Thr1340=)
c.5116A= (p.Thr1706=)
n.998A=
11g.70473277T>ACA475470709SHANK2c.3375A>T (p.Pro1125=)
c.920A>T (n.920A>T)
c.5142A>T (p.Pro1714=)
c.2651A>T
c.4005A>T (p.Pro1335=)
c.3432A>T (p.Pro1144=)
c.3378A>T (p.Pro1126=)
c.*146A>T (n.*146A>T)
c.3354A>T (p.Pro1118=)
c.918A>T
c.2979A>T (p.Pro993=)
n.1894A>T
n.996A>T
c.5112A>T (p.Pro1704=)
c.5154A>T (p.Pro1718=)
c.5133A>T (p.Pro1711=)
c.5127A>T (p.Pro1709=)
c.5106A>T (p.Pro1702=)
c.4017A>T (p.Pro1339=)
c.5115A>T (p.Pro1705=)
n.997A>T
11g.70473277T>CCA475470710SHANK2c.3375A>G (p.Pro1125=)
c.920A>G (n.920A>G)
c.5142A>G (p.Pro1714=)
c.2651A>G
c.4005A>G (p.Pro1335=)
c.3432A>G (p.Pro1144=)
c.3378A>G (p.Pro1126=)
c.*146A>G (n.*146A>G)
c.3354A>G (p.Pro1118=)
c.918A>G
c.2979A>G (p.Pro993=)
n.1894A>G
n.996A>G
c.5112A>G (p.Pro1704=)
c.5154A>G (p.Pro1718=)
c.5133A>G (p.Pro1711=)
c.5127A>G (p.Pro1709=)
c.5106A>G (p.Pro1702=)
c.4017A>G (p.Pro1339=)
c.5115A>G (p.Pro1705=)
n.997A>G
11g.70473277T>GCA475470711SHANK2c.3375A>C (p.Pro1125=)
c.920A>C (n.920A>C)
c.5142A>C (p.Pro1714=)
c.2651A>C
c.4005A>C (p.Pro1335=)
c.3432A>C (p.Pro1144=)
c.3378A>C (p.Pro1126=)
c.*146A>C (n.*146A>C)
c.3354A>C (p.Pro1118=)
c.918A>C
c.2979A>C (p.Pro993=)
n.1894A>C
n.996A>C
c.5112A>C (p.Pro1704=)
c.5154A>C (p.Pro1718=)
c.5133A>C (p.Pro1711=)
c.5127A>C (p.Pro1709=)
c.5106A>C (p.Pro1702=)
c.4017A>C (p.Pro1339=)
c.5115A>C (p.Pro1705=)
n.997A>C
11g.70473278G>ACA381676307SHANK2c.3374C>T (p.Pro1125Leu)
c.919C>T (n.919C>T)
c.5141C>T (p.Pro1714Leu)
c.2650C>T
c.4004C>T (p.Pro1335Leu)
c.3431C>T (p.Pro1144Leu)
c.3377C>T (p.Pro1126Leu)
c.*145C>T (n.*145C>T)
c.3353C>T (p.Pro1118Leu)
c.917C>T
c.2978C>T (p.Pro993Leu)
n.1893C>T
n.995C>T
c.5111C>T (p.Pro1704Leu)
c.5153C>T (p.Pro1718Leu)
c.5132C>T (p.Pro1711Leu)
c.5126C>T (p.Pro1709Leu)
c.5105C>T (p.Pro1702Leu)
c.4016C>T (p.Pro1339Leu)
c.5114C>T (p.Pro1705Leu)
n.996C>T
11g.70473278G>CCA381676308SHANK2c.3374C>G (p.Pro1125Arg)
c.919C>G (n.919C>G)
c.5141C>G (p.Pro1714Arg)
c.2650C>G
c.4004C>G (p.Pro1335Arg)
c.3431C>G (p.Pro1144Arg)
c.3377C>G (p.Pro1126Arg)
c.*145C>G (n.*145C>G)
c.3353C>G (p.Pro1118Arg)
c.917C>G
c.2978C>G (p.Pro993Arg)
n.1893C>G
n.995C>G
c.5111C>G (p.Pro1704Arg)
c.5153C>G (p.Pro1718Arg)
c.5132C>G (p.Pro1711Arg)
c.5126C>G (p.Pro1709Arg)
c.5105C>G (p.Pro1702Arg)
c.4016C>G (p.Pro1339Arg)
c.5114C>G (p.Pro1705Arg)
n.996C>G
11g.70473278G>TCA381676309SHANK2c.3374C>A (p.Pro1125Gln)
c.919C>A (n.919C>A)
c.5141C>A (p.Pro1714Gln)
c.2650C>A
c.4004C>A (p.Pro1335Gln)
c.3431C>A (p.Pro1144Gln)
c.3377C>A (p.Pro1126Gln)
c.*145C>A (n.*145C>A)
c.3353C>A (p.Pro1118Gln)
c.917C>A
c.2978C>A (p.Pro993Gln)
n.1893C>A
n.995C>A
c.5111C>A (p.Pro1704Gln)
c.5153C>A (p.Pro1718Gln)
c.5132C>A (p.Pro1711Gln)
c.5126C>A (p.Pro1709Gln)
c.5105C>A (p.Pro1702Gln)
c.4016C>A (p.Pro1339Gln)
c.5114C>A (p.Pro1705Gln)
n.996C>A
11g.70473279G>ACA381676311SHANK2c.3373C>T (p.Pro1125Ser)
c.918C>T (n.918C>T)
c.5140C>T (p.Pro1714Ser)
c.2649C>T
c.4003C>T (p.Pro1335Ser)
c.3430C>T (p.Pro1144Ser)
c.3376C>T (p.Pro1126Ser)
c.*144C>T (n.*144C>T)
c.3352C>T (p.Pro1118Ser)
c.916C>T
c.2977C>T (p.Pro993Ser)
n.1892C>T
n.994C>T
c.5110C>T (p.Pro1704Ser)
c.5152C>T (p.Pro1718Ser)
c.5131C>T (p.Pro1711Ser)
c.5125C>T (p.Pro1709Ser)
c.5104C>T (p.Pro1702Ser)
c.4015C>T (p.Pro1339Ser)
c.5113C>T (p.Pro1705Ser)
n.995C>T
11g.70473279G>CCA381676312SHANK2c.3373C>G (p.Pro1125Ala)
c.918C>G (n.918C>G)
c.5140C>G (p.Pro1714Ala)
c.2649C>G
c.4003C>G (p.Pro1335Ala)
c.3430C>G (p.Pro1144Ala)
c.3376C>G (p.Pro1126Ala)
c.*144C>G (n.*144C>G)
c.3352C>G (p.Pro1118Ala)
c.916C>G
c.2977C>G (p.Pro993Ala)
n.1892C>G
n.994C>G
c.5110C>G (p.Pro1704Ala)
c.5152C>G (p.Pro1718Ala)
c.5131C>G (p.Pro1711Ala)
c.5125C>G (p.Pro1709Ala)
c.5104C>G (p.Pro1702Ala)
c.4015C>G (p.Pro1339Ala)
c.5113C>G (p.Pro1705Ala)
n.995C>G
 gnomAD v4
11g.70473279G=CA1981067980SHANK2c.3373C= (p.Pro1125=)
c.918C= (n.918C=)
c.5140C= (p.Pro1714=)
c.2649C=
c.4003C= (p.Pro1335=)
c.3430C= (p.Pro1144=)
c.3376C= (p.Pro1126=)
c.*144C= (n.*144C=)
c.3352C= (p.Pro1118=)
c.916C=
c.2977C= (p.Pro993=)
n.1892C=
n.994C=
c.5110C= (p.Pro1704=)
c.5152C= (p.Pro1718=)
c.5131C= (p.Pro1711=)
c.5125C= (p.Pro1709=)
c.5104C= (p.Pro1702=)
c.4015C= (p.Pro1339=)
c.5113C= (p.Pro1705=)
n.995C=
11g.70473279G>TCA381676310SHANK2c.3373C>A (p.Pro1125Thr)
c.918C>A (n.918C>A)
c.5140C>A (p.Pro1714Thr)
c.2649C>A
c.4003C>A (p.Pro1335Thr)
c.3430C>A (p.Pro1144Thr)
c.3376C>A (p.Pro1126Thr)
c.*144C>A (n.*144C>A)
c.3352C>A (p.Pro1118Thr)
c.916C>A
c.2977C>A (p.Pro993Thr)
n.1892C>A
n.994C>A
c.5110C>A (p.Pro1704Thr)
c.5152C>A (p.Pro1718Thr)
c.5131C>A (p.Pro1711Thr)
c.5125C>A (p.Pro1709Thr)
c.5104C>A (p.Pro1702Thr)
c.4015C>A (p.Pro1339Thr)
c.5113C>A (p.Pro1705Thr)
n.995C>A
 dbSNP
11g.70473280C>ACA6160762SHANK2c.3372G>T (p.Ser1124=)
c.917G>T (n.917G>T)
c.5139G>T (p.Ser1713=)
c.2648G>T
c.4002G>T (p.Ser1334=)
c.3429G>T (p.Ser1143=)
c.3375G>T (p.Ser1125=)
c.*143G>T (n.*143G>T)
c.3351G>T (p.Ser1117=)
c.915G>T
c.2976G>T (p.Ser992=)
n.1891G>T
n.993G>T
c.5109G>T (p.Ser1703=)
c.5151G>T (p.Ser1717=)
c.5130G>T (p.Ser1710=)
c.5124G>T (p.Ser1708=)
c.5103G>T (p.Ser1701=)
c.4014G>T (p.Ser1338=)
c.5112G>T (p.Ser1704=)
n.994G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473280C=CA1981067981SHANK2c.3372G= (p.Ser1124=)
c.917G= (n.917G=)
c.5139G= (p.Ser1713=)
c.2648G=
c.4002G= (p.Ser1334=)
c.3429G= (p.Ser1143=)
c.3375G= (p.Ser1125=)
c.*143G= (n.*143G=)
c.3351G= (p.Ser1117=)
c.915G=
c.2976G= (p.Ser992=)
n.1891G=
n.993G=
c.5109G= (p.Ser1703=)
c.5151G= (p.Ser1717=)
c.5130G= (p.Ser1710=)
c.5124G= (p.Ser1708=)
c.5103G= (p.Ser1701=)
c.4014G= (p.Ser1338=)
c.5112G= (p.Ser1704=)
n.994G=
11g.70473280C>GCA475470712SHANK2c.3372G>C (p.Ser1124=)
c.917G>C (n.917G>C)
c.5139G>C (p.Ser1713=)
c.2648G>C
c.4002G>C (p.Ser1334=)
c.3429G>C (p.Ser1143=)
c.3375G>C (p.Ser1125=)
c.*143G>C (n.*143G>C)
c.3351G>C (p.Ser1117=)
c.915G>C
c.2976G>C (p.Ser992=)
n.1891G>C
n.993G>C
c.5109G>C (p.Ser1703=)
c.5151G>C (p.Ser1717=)
c.5130G>C (p.Ser1710=)
c.5124G>C (p.Ser1708=)
c.5103G>C (p.Ser1701=)
c.4014G>C (p.Ser1338=)
c.5112G>C (p.Ser1704=)
n.994G>C
11g.70473280C>TCA6160763SHANK2c.3372G>A (p.Ser1124=)
c.917G>A (n.917G>A)
c.5139G>A (p.Ser1713=)
c.2648G>A
c.4002G>A (p.Ser1334=)
c.3429G>A (p.Ser1143=)
c.3375G>A (p.Ser1125=)
c.*143G>A (n.*143G>A)
c.3351G>A (p.Ser1117=)
c.915G>A
c.2976G>A (p.Ser992=)
n.1891G>A
n.993G>A
c.5109G>A (p.Ser1703=)
c.5151G>A (p.Ser1717=)
c.5130G>A (p.Ser1710=)
c.5124G>A (p.Ser1708=)
c.5103G>A (p.Ser1701=)
c.4014G>A (p.Ser1338=)
c.5112G>A (p.Ser1704=)
n.994G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473281G>ACA6160764SHANK2c.3371C>T (p.Ser1124Leu)
c.916C>T (n.916C>T)
c.5138C>T (p.Ser1713Leu)
c.2647C>T
c.4001C>T (p.Ser1334Leu)
c.3428C>T (p.Ser1143Leu)
c.3374C>T (p.Ser1125Leu)
c.*142C>T (n.*142C>T)
c.3350C>T (p.Ser1117Leu)
c.914C>T
c.2975C>T (p.Ser992Leu)
n.1890C>T
n.992C>T
c.5108C>T (p.Ser1703Leu)
c.5150C>T (p.Ser1717Leu)
c.5129C>T (p.Ser1710Leu)
c.5123C>T (p.Ser1708Leu)
c.5102C>T (p.Ser1701Leu)
c.4013C>T (p.Ser1338Leu)
c.5111C>T (p.Ser1704Leu)
n.993C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
11g.70473281G>CCA381676313SHANK2c.3371C>G (p.Ser1124Trp)
c.916C>G (n.916C>G)
c.5138C>G (p.Ser1713Trp)
c.2647C>G
c.4001C>G (p.Ser1334Trp)
c.3428C>G (p.Ser1143Trp)
c.3374C>G (p.Ser1125Trp)
c.*142C>G (n.*142C>G)
c.3350C>G (p.Ser1117Trp)
c.914C>G
c.2975C>G (p.Ser992Trp)
n.1890C>G
n.992C>G
c.5108C>G (p.Ser1703Trp)
c.5150C>G (p.Ser1717Trp)
c.5129C>G (p.Ser1710Trp)
c.5123C>G (p.Ser1708Trp)
c.5102C>G (p.Ser1701Trp)
c.4013C>G (p.Ser1338Trp)
c.5111C>G (p.Ser1704Trp)
n.993C>G
11g.70473281G=CA1981067982SHANK2c.3371C= (p.Ser1124=)
c.916C= (n.916C=)
c.5138C= (p.Ser1713=)
c.2647C=
c.4001C= (p.Ser1334=)
c.3428C= (p.Ser1143=)
c.3374C= (p.Ser1125=)
c.*142C= (n.*142C=)
c.3350C= (p.Ser1117=)
c.914C=
c.2975C= (p.Ser992=)
n.1890C=
n.992C=
c.5108C= (p.Ser1703=)
c.5150C= (p.Ser1717=)
c.5129C= (p.Ser1710=)
c.5123C= (p.Ser1708=)
c.5102C= (p.Ser1701=)
c.4013C= (p.Ser1338=)
c.5111C= (p.Ser1704=)
n.993C=
11g.70473281G>TCA381676314SHANK2c.3371C>A (p.Ser1124Ter)
c.916C>A (n.916C>A)
c.5138C>A (p.Ser1713Ter)
c.2647C>A
c.4001C>A (p.Ser1334Ter)
c.3428C>A (p.Ser1143Ter)
c.3374C>A (p.Ser1125Ter)
c.*142C>A (n.*142C>A)
c.3350C>A (p.Ser1117Ter)
c.914C>A
c.2975C>A (p.Ser992Ter)
n.1890C>A
n.992C>A
c.5108C>A (p.Ser1703Ter)
c.5150C>A (p.Ser1717Ter)
c.5129C>A (p.Ser1710Ter)
c.5123C>A (p.Ser1708Ter)
c.5102C>A (p.Ser1701Ter)
c.4013C>A (p.Ser1338Ter)
c.5111C>A (p.Ser1704Ter)
n.993C>A
11g.70473282A>CCA381676317SHANK2c.3370T>G (p.Ser1124Ala)
c.915T>G (n.915T>G)
c.5137T>G (p.Ser1713Ala)
c.2646T>G
c.4000T>G (p.Ser1334Ala)
c.3427T>G (p.Ser1143Ala)
c.3373T>G (p.Ser1125Ala)
c.*141T>G (n.*141T>G)
c.3349T>G (p.Ser1117Ala)
c.913T>G
c.2974T>G (p.Ser992Ala)
n.1889T>G
n.991T>G
c.5107T>G (p.Ser1703Ala)
c.5149T>G (p.Ser1717Ala)
c.5128T>G (p.Ser1710Ala)
c.5122T>G (p.Ser1708Ala)
c.5101T>G (p.Ser1701Ala)
c.4012T>G (p.Ser1338Ala)
c.5110T>G (p.Ser1704Ala)
n.992T>G
11g.70473282A>GCA381676316SHANK2c.3370T>C (p.Ser1124Pro)
c.915T>C (n.915T>C)
c.5137T>C (p.Ser1713Pro)
c.2646T>C
c.4000T>C (p.Ser1334Pro)
c.3427T>C (p.Ser1143Pro)
c.3373T>C (p.Ser1125Pro)
c.*141T>C (n.*141T>C)
c.3349T>C (p.Ser1117Pro)
c.913T>C
c.2974T>C (p.Ser992Pro)
n.1889T>C
n.991T>C
c.5107T>C (p.Ser1703Pro)
c.5149T>C (p.Ser1717Pro)
c.5128T>C (p.Ser1710Pro)
c.5122T>C (p.Ser1708Pro)
c.5101T>C (p.Ser1701Pro)
c.4012T>C (p.Ser1338Pro)
c.5110T>C (p.Ser1704Pro)
n.992T>C
11g.70473282A>TCA381676315SHANK2c.3370T>A (p.Ser1124Thr)
c.915T>A (n.915T>A)
c.5137T>A (p.Ser1713Thr)
c.2646T>A
c.4000T>A (p.Ser1334Thr)
c.3427T>A (p.Ser1143Thr)
c.3373T>A (p.Ser1125Thr)
c.*141T>A (n.*141T>A)
c.3349T>A (p.Ser1117Thr)
c.913T>A
c.2974T>A (p.Ser992Thr)
n.1889T>A
n.991T>A
c.5107T>A (p.Ser1703Thr)
c.5149T>A (p.Ser1717Thr)
c.5128T>A (p.Ser1710Thr)
c.5122T>A (p.Ser1708Thr)
c.5101T>A (p.Ser1701Thr)
c.4012T>A (p.Ser1338Thr)
c.5110T>A (p.Ser1704Thr)
n.992T>A
11g.70473283G>ACA475470715SHANK2c.3369C>T (p.Val1123=)
c.914C>T (n.914C>T)
c.5136C>T (p.Val1712=)
c.2645C>T
c.3999C>T (p.Val1333=)
c.3426C>T (p.Val1142=)
c.3372C>T (p.Val1124=)
c.*140C>T (n.*140C>T)
c.3348C>T (p.Val1116=)
c.912C>T
c.2973C>T (p.Val991=)
n.1888C>T
n.990C>T
c.5106C>T (p.Val1702=)
c.5148C>T (p.Val1716=)
c.5127C>T (p.Val1709=)
c.5121C>T (p.Val1707=)
c.5100C>T (p.Val1700=)
c.4011C>T (p.Val1337=)
c.5109C>T (p.Val1703=)
n.991C>T
11g.70473283G>CCA475470714SHANK2c.3369C>G (p.Val1123=)
c.914C>G (n.914C>G)
c.5136C>G (p.Val1712=)
c.2645C>G
c.3999C>G (p.Val1333=)
c.3426C>G (p.Val1142=)
c.3372C>G (p.Val1124=)
c.*140C>G (n.*140C>G)
c.3348C>G (p.Val1116=)
c.912C>G
c.2973C>G (p.Val991=)
n.1888C>G
n.990C>G
c.5106C>G (p.Val1702=)
c.5148C>G (p.Val1716=)
c.5127C>G (p.Val1709=)
c.5121C>G (p.Val1707=)
c.5100C>G (p.Val1700=)
c.4011C>G (p.Val1337=)
c.5109C>G (p.Val1703=)
n.991C>G
11g.70473283G>TCA475470713SHANK2c.3369C>A (p.Val1123=)
c.914C>A (n.914C>A)
c.5136C>A (p.Val1712=)
c.2645C>A
c.3999C>A (p.Val1333=)
c.3426C>A (p.Val1142=)
c.3372C>A (p.Val1124=)
c.*140C>A (n.*140C>A)
c.3348C>A (p.Val1116=)
c.912C>A
c.2973C>A (p.Val991=)
n.1888C>A
n.990C>A
c.5106C>A (p.Val1702=)
c.5148C>A (p.Val1716=)
c.5127C>A (p.Val1709=)
c.5121C>A (p.Val1707=)
c.5100C>A (p.Val1700=)
c.4011C>A (p.Val1337=)
c.5109C>A (p.Val1703=)
n.991C>A
11g.70473284A=CA1981067983SHANK2c.3368T= (p.Val1123=)
c.913T= (n.913T=)
c.5135T= (p.Val1712=)
c.2644T=
c.3998T= (p.Val1333=)
c.3425T= (p.Val1142=)
c.3371T= (p.Val1124=)
c.*139T= (n.*139T=)
c.3347T= (p.Val1116=)
c.911T=
c.2972T= (p.Val991=)
n.1887T=
n.989T=
c.5105T= (p.Val1702=)
c.5147T= (p.Val1716=)
c.5126T= (p.Val1709=)
c.5120T= (p.Val1707=)
c.5099T= (p.Val1700=)
c.4010T= (p.Val1337=)
c.5108T= (p.Val1703=)
n.990T=
11g.70473284A>CCA381676318SHANK2c.3368T>G (p.Val1123Gly)
c.913T>G (n.913T>G)
c.5135T>G (p.Val1712Gly)
c.2644T>G
c.3998T>G (p.Val1333Gly)
c.3425T>G (p.Val1142Gly)
c.3371T>G (p.Val1124Gly)
c.*139T>G (n.*139T>G)
c.3347T>G (p.Val1116Gly)
c.911T>G
c.2972T>G (p.Val991Gly)
n.1887T>G
n.989T>G
c.5105T>G (p.Val1702Gly)
c.5147T>G (p.Val1716Gly)
c.5126T>G (p.Val1709Gly)
c.5120T>G (p.Val1707Gly)
c.5099T>G (p.Val1700Gly)
c.4010T>G (p.Val1337Gly)
c.5108T>G (p.Val1703Gly)
n.990T>G
11g.70473284A>GCA381676319SHANK2c.3368T>C (p.Val1123Ala)
c.913T>C (n.913T>C)
c.5135T>C (p.Val1712Ala)
c.2644T>C
c.3998T>C (p.Val1333Ala)
c.3425T>C (p.Val1142Ala)
c.3371T>C (p.Val1124Ala)
c.*139T>C (n.*139T>C)
c.3347T>C (p.Val1116Ala)
c.911T>C
c.2972T>C (p.Val991Ala)
n.1887T>C
n.989T>C
c.5105T>C (p.Val1702Ala)
c.5147T>C (p.Val1716Ala)
c.5126T>C (p.Val1709Ala)
c.5120T>C (p.Val1707Ala)
c.5099T>C (p.Val1700Ala)
c.4010T>C (p.Val1337Ala)
c.5108T>C (p.Val1703Ala)
n.990T>C
 dbSNP
11g.70473284A>TCA381676320SHANK2c.3368T>A (p.Val1123Asp)
c.913T>A (n.913T>A)
c.5135T>A (p.Val1712Asp)
c.2644T>A
c.3998T>A (p.Val1333Asp)
c.3425T>A (p.Val1142Asp)
c.3371T>A (p.Val1124Asp)
c.*139T>A (n.*139T>A)
c.3347T>A (p.Val1116Asp)
c.911T>A
c.2972T>A (p.Val991Asp)
n.1887T>A
n.989T>A
c.5105T>A (p.Val1702Asp)
c.5147T>A (p.Val1716Asp)
c.5126T>A (p.Val1709Asp)
c.5120T>A (p.Val1707Asp)
c.5099T>A (p.Val1700Asp)
c.4010T>A (p.Val1337Asp)
c.5108T>A (p.Val1703Asp)
n.990T>A
11g.70473285C>ACA381676321SHANK2c.3367G>T (p.Val1123Phe)
c.912G>T (n.912G>T)
c.5134G>T (p.Val1712Phe)
c.2643G>T
c.3997G>T (p.Val1333Phe)
c.3424G>T (p.Val1142Phe)
c.3370G>T (p.Val1124Phe)
c.*138G>T (n.*138G>T)
c.3346G>T (p.Val1116Phe)
c.910G>T
c.2971G>T (p.Val991Phe)
n.1886G>T
n.988G>T
c.5104G>T (p.Val1702Phe)
c.5146G>T (p.Val1716Phe)
c.5125G>T (p.Val1709Phe)
c.5119G>T (p.Val1707Phe)
c.5098G>T (p.Val1700Phe)
c.4009G>T (p.Val1337Phe)
c.5107G>T (p.Val1703Phe)
n.989G>T
11g.70473285C=CA1981067984SHANK2c.3367G= (p.Val1123=)
c.912G= (n.912G=)
c.5134G= (p.Val1712=)
c.2643G=
c.3997G= (p.Val1333=)
c.3424G= (p.Val1142=)
c.3370G= (p.Val1124=)
c.*138G= (n.*138G=)
c.3346G= (p.Val1116=)
c.910G=
c.2971G= (p.Val991=)
n.1886G=
n.988G=
c.5104G= (p.Val1702=)
c.5146G= (p.Val1716=)
c.5125G= (p.Val1709=)
c.5119G= (p.Val1707=)
c.5098G= (p.Val1700=)
c.4009G= (p.Val1337=)
c.5107G= (p.Val1703=)
n.989G=
11g.70473285C>GCA381676322SHANK2c.3367G>C (p.Val1123Leu)
c.912G>C (n.912G>C)
c.5134G>C (p.Val1712Leu)
c.2643G>C
c.3997G>C (p.Val1333Leu)
c.3424G>C (p.Val1142Leu)
c.3370G>C (p.Val1124Leu)
c.*138G>C (n.*138G>C)
c.3346G>C (p.Val1116Leu)
c.910G>C
c.2971G>C (p.Val991Leu)
n.1886G>C
n.988G>C
c.5104G>C (p.Val1702Leu)
c.5146G>C (p.Val1716Leu)
c.5125G>C (p.Val1709Leu)
c.5119G>C (p.Val1707Leu)
c.5098G>C (p.Val1700Leu)
c.4009G>C (p.Val1337Leu)
c.5107G>C (p.Val1703Leu)
n.989G>C
11g.70473285C>TCA381676323SHANK2c.3367G>A (p.Val1123Ile)
c.912G>A (n.912G>A)
c.5134G>A (p.Val1712Ile)
c.2643G>A
c.3997G>A (p.Val1333Ile)
c.3424G>A (p.Val1142Ile)
c.3370G>A (p.Val1124Ile)
c.*138G>A (n.*138G>A)
c.3346G>A (p.Val1116Ile)
c.910G>A
c.2971G>A (p.Val991Ile)
n.1886G>A
n.988G>A
c.5104G>A (p.Val1702Ile)
c.5146G>A (p.Val1716Ile)
c.5125G>A (p.Val1709Ile)
c.5119G>A (p.Val1707Ile)
c.5098G>A (p.Val1700Ile)
c.4009G>A (p.Val1337Ile)
c.5107G>A (p.Val1703Ile)
n.989G>A
 dbSNP gnomAD v4
11g.70473286C>ACA475470716SHANK2c.3366G>T (p.Val1122=)
c.911G>T (n.911G>T)
c.5133G>T (p.Val1711=)
c.2642G>T
c.3996G>T (p.Val1332=)
c.3423G>T (p.Val1141=)
c.3369G>T (p.Val1123=)
c.*137G>T (n.*137G>T)
c.3345G>T (p.Val1115=)
c.909G>T
c.2970G>T (p.Val990=)
n.1885G>T
n.987G>T
c.5103G>T (p.Val1701=)
c.5145G>T (p.Val1715=)
c.5124G>T (p.Val1708=)
c.5118G>T (p.Val1706=)
c.5097G>T (p.Val1699=)
c.4008G>T (p.Val1336=)
c.5106G>T (p.Val1702=)
n.988G>T
 dbSNP
11g.70473286C=CA1981067985SHANK2c.3366G= (p.Val1122=)
c.911G= (n.911G=)
c.5133G= (p.Val1711=)
c.2642G=
c.3996G= (p.Val1332=)
c.3423G= (p.Val1141=)
c.3369G= (p.Val1123=)
c.*137G= (n.*137G=)
c.3345G= (p.Val1115=)
c.909G=
c.2970G= (p.Val990=)
n.1885G=
n.987G=
c.5103G= (p.Val1701=)
c.5145G= (p.Val1715=)
c.5124G= (p.Val1708=)
c.5118G= (p.Val1706=)
c.5097G= (p.Val1699=)
c.4008G= (p.Val1336=)
c.5106G= (p.Val1702=)
n.988G=
11g.70473286C>GCA475470718SHANK2c.3366G>C (p.Val1122=)
c.911G>C (n.911G>C)
c.5133G>C (p.Val1711=)
c.2642G>C
c.3996G>C (p.Val1332=)
c.3423G>C (p.Val1141=)
c.3369G>C (p.Val1123=)
c.*137G>C (n.*137G>C)
c.3345G>C (p.Val1115=)
c.909G>C
c.2970G>C (p.Val990=)
n.1885G>C
n.987G>C
c.5103G>C (p.Val1701=)
c.5145G>C (p.Val1715=)
c.5124G>C (p.Val1708=)
c.5118G>C (p.Val1706=)
c.5097G>C (p.Val1699=)
c.4008G>C (p.Val1336=)
c.5106G>C (p.Val1702=)
n.988G>C
11g.70473286C>TCA475470717SHANK2c.3366G>A (p.Val1122=)
c.911G>A (n.911G>A)
c.5133G>A (p.Val1711=)
c.2642G>A
c.3996G>A (p.Val1332=)
c.3423G>A (p.Val1141=)
c.3369G>A (p.Val1123=)
c.*137G>A (n.*137G>A)
c.3345G>A (p.Val1115=)
c.909G>A
c.2970G>A (p.Val990=)
n.1885G>A
n.987G>A
c.5103G>A (p.Val1701=)
c.5145G>A (p.Val1715=)
c.5124G>A (p.Val1708=)
c.5118G>A (p.Val1706=)
c.5097G>A (p.Val1699=)
c.4008G>A (p.Val1336=)
c.5106G>A (p.Val1702=)
n.988G>A
11g.70473287A>CCA381676326SHANK2c.3365T>G (p.Val1122Gly)
c.910T>G (n.910T>G)
c.5132T>G (p.Val1711Gly)
c.2641T>G
c.3995T>G (p.Val1332Gly)
c.3422T>G (p.Val1141Gly)
c.3368T>G (p.Val1123Gly)
c.*136T>G (n.*136T>G)
c.3344T>G (p.Val1115Gly)
c.908T>G
c.2969T>G (p.Val990Gly)
n.1884T>G
n.986T>G
c.5102T>G (p.Val1701Gly)
c.5144T>G (p.Val1715Gly)
c.5123T>G (p.Val1708Gly)
c.5117T>G (p.Val1706Gly)
c.5096T>G (p.Val1699Gly)
c.4007T>G (p.Val1336Gly)
c.5105T>G (p.Val1702Gly)
n.987T>G
11g.70473287A>GCA381676324SHANK2c.3365T>C (p.Val1122Ala)
c.910T>C (n.910T>C)
c.5132T>C (p.Val1711Ala)
c.2641T>C
c.3995T>C (p.Val1332Ala)
c.3422T>C (p.Val1141Ala)
c.3368T>C (p.Val1123Ala)
c.*136T>C (n.*136T>C)
c.3344T>C (p.Val1115Ala)
c.908T>C
c.2969T>C (p.Val990Ala)
n.1884T>C
n.986T>C
c.5102T>C (p.Val1701Ala)
c.5144T>C (p.Val1715Ala)
c.5123T>C (p.Val1708Ala)
c.5117T>C (p.Val1706Ala)
c.5096T>C (p.Val1699Ala)
c.4007T>C (p.Val1336Ala)
c.5105T>C (p.Val1702Ala)
n.987T>C
11g.70473287A>TCA381676325SHANK2c.3365T>A (p.Val1122Glu)
c.910T>A (n.910T>A)
c.5132T>A (p.Val1711Glu)
c.2641T>A
c.3995T>A (p.Val1332Glu)
c.3422T>A (p.Val1141Glu)
c.3368T>A (p.Val1123Glu)
c.*136T>A (n.*136T>A)
c.3344T>A (p.Val1115Glu)
c.908T>A
c.2969T>A (p.Val990Glu)
n.1884T>A
n.986T>A
c.5102T>A (p.Val1701Glu)
c.5144T>A (p.Val1715Glu)
c.5123T>A (p.Val1708Glu)
c.5117T>A (p.Val1706Glu)
c.5096T>A (p.Val1699Glu)
c.4007T>A (p.Val1336Glu)
c.5105T>A (p.Val1702Glu)
n.987T>A
11g.70473288C>ACA381676327SHANK2c.3364G>T (p.Val1122Leu)
c.909G>T (n.909G>T)
c.5131G>T (p.Val1711Leu)
c.2640G>T
c.3994G>T (p.Val1332Leu)
c.3421G>T (p.Val1141Leu)
c.3367G>T (p.Val1123Leu)
c.*135G>T (n.*135G>T)
c.3343G>T (p.Val1115Leu)
c.907G>T
c.2968G>T (p.Val990Leu)
n.1883G>T
n.985G>T
c.5101G>T (p.Val1701Leu)
c.5143G>T (p.Val1715Leu)
c.5122G>T (p.Val1708Leu)
c.5116G>T (p.Val1706Leu)
c.5095G>T (p.Val1699Leu)
c.4006G>T (p.Val1336Leu)
c.5104G>T (p.Val1702Leu)
n.986G>T
 gnomAD v4
11g.70473288C>GCA381676328SHANK2c.3364G>C (p.Val1122Leu)
c.909G>C (n.909G>C)
c.5131G>C (p.Val1711Leu)
c.2640G>C
c.3994G>C (p.Val1332Leu)
c.3421G>C (p.Val1141Leu)
c.3367G>C (p.Val1123Leu)
c.*135G>C (n.*135G>C)
c.3343G>C (p.Val1115Leu)
c.907G>C
c.2968G>C (p.Val990Leu)
n.1883G>C
n.985G>C
c.5101G>C (p.Val1701Leu)
c.5143G>C (p.Val1715Leu)
c.5122G>C (p.Val1708Leu)
c.5116G>C (p.Val1706Leu)
c.5095G>C (p.Val1699Leu)
c.4006G>C (p.Val1336Leu)
c.5104G>C (p.Val1702Leu)
n.986G>C
11g.70473288C>TCA381676329SHANK2c.3364G>A (p.Val1122Met)
c.909G>A (n.909G>A)
c.5131G>A (p.Val1711Met)
c.2640G>A
c.3994G>A (p.Val1332Met)
c.3421G>A (p.Val1141Met)
c.3367G>A (p.Val1123Met)
c.*135G>A (n.*135G>A)
c.3343G>A (p.Val1115Met)
c.907G>A
c.2968G>A (p.Val990Met)
n.1883G>A
n.985G>A
c.5101G>A (p.Val1701Met)
c.5143G>A (p.Val1715Met)
c.5122G>A (p.Val1708Met)
c.5116G>A (p.Val1706Met)
c.5095G>A (p.Val1699Met)
c.4006G>A (p.Val1336Met)
c.5104G>A (p.Val1702Met)
n.986G>A
11g.70473289A>CCA475470719SHANK2c.3363T>G (p.Pro1121=)
c.908T>G (n.908T>G)
c.5130T>G (p.Pro1710=)
c.2639T>G
c.3993T>G (p.Pro1331=)
c.3420T>G (p.Pro1140=)
c.3366T>G (p.Pro1122=)
c.*134T>G (n.*134T>G)
c.3342T>G (p.Pro1114=)
c.906T>G
c.2967T>G (p.Pro989=)
n.1882T>G
n.984T>G
c.5100T>G (p.Pro1700=)
c.5142T>G (p.Pro1714=)
c.5121T>G (p.Pro1707=)
c.5115T>G (p.Pro1705=)
c.5094T>G (p.Pro1698=)
c.4005T>G (p.Pro1335=)
c.5103T>G (p.Pro1701=)
n.985T>G
11g.70473289A>GCA475470720SHANK2c.3363T>C (p.Pro1121=)
c.908T>C (n.908T>C)
c.5130T>C (p.Pro1710=)
c.2639T>C
c.3993T>C (p.Pro1331=)
c.3420T>C (p.Pro1140=)
c.3366T>C (p.Pro1122=)
c.*134T>C (n.*134T>C)
c.3342T>C (p.Pro1114=)
c.906T>C
c.2967T>C (p.Pro989=)
n.1882T>C
n.984T>C
c.5100T>C (p.Pro1700=)
c.5142T>C (p.Pro1714=)
c.5121T>C (p.Pro1707=)
c.5115T>C (p.Pro1705=)
c.5094T>C (p.Pro1698=)
c.4005T>C (p.Pro1335=)
c.5103T>C (p.Pro1701=)
n.985T>C
11g.70473289A>TCA475470721SHANK2c.3363T>A (p.Pro1121=)
c.908T>A (n.908T>A)
c.5130T>A (p.Pro1710=)
c.2639T>A
c.3993T>A (p.Pro1331=)
c.3420T>A (p.Pro1140=)
c.3366T>A (p.Pro1122=)
c.*134T>A (n.*134T>A)
c.3342T>A (p.Pro1114=)
c.906T>A
c.2967T>A (p.Pro989=)
n.1882T>A
n.984T>A
c.5100T>A (p.Pro1700=)
c.5142T>A (p.Pro1714=)
c.5121T>A (p.Pro1707=)
c.5115T>A (p.Pro1705=)
c.5094T>A (p.Pro1698=)
c.4005T>A (p.Pro1335=)
c.5103T>A (p.Pro1701=)
n.985T>A
11g.70473290G>ACA381676330SHANK2c.3362C>T (p.Pro1121Leu)
c.907C>T (n.907C>T)
c.5129C>T (p.Pro1710Leu)
c.2638C>T
c.3992C>T (p.Pro1331Leu)
c.3419C>T (p.Pro1140Leu)
c.3365C>T (p.Pro1122Leu)
c.*133C>T (n.*133C>T)
c.3341C>T (p.Pro1114Leu)
c.905C>T
c.2966C>T (p.Pro989Leu)
n.1881C>T
n.983C>T
c.5099C>T (p.Pro1700Leu)
c.5141C>T (p.Pro1714Leu)
c.5120C>T (p.Pro1707Leu)
c.5114C>T (p.Pro1705Leu)
c.5093C>T (p.Pro1698Leu)
c.4004C>T (p.Pro1335Leu)
c.5102C>T (p.Pro1701Leu)
n.984C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70473290G>CCA381676331SHANK2c.3362C>G (p.Pro1121Arg)
c.907C>G (n.907C>G)
c.5129C>G (p.Pro1710Arg)
c.2638C>G
c.3992C>G (p.Pro1331Arg)
c.3419C>G (p.Pro1140Arg)
c.3365C>G (p.Pro1122Arg)
c.*133C>G (n.*133C>G)
c.3341C>G (p.Pro1114Arg)
c.905C>G
c.2966C>G (p.Pro989Arg)
n.1881C>G
n.983C>G
c.5099C>G (p.Pro1700Arg)
c.5141C>G (p.Pro1714Arg)
c.5120C>G (p.Pro1707Arg)
c.5114C>G (p.Pro1705Arg)
c.5093C>G (p.Pro1698Arg)
c.4004C>G (p.Pro1335Arg)
c.5102C>G (p.Pro1701Arg)
n.984C>G
11g.70473290G=CA1981067986SHANK2c.3362C= (p.Pro1121=)
c.907C= (n.907C=)
c.5129C= (p.Pro1710=)
c.2638C=
c.3992C= (p.Pro1331=)
c.3419C= (p.Pro1140=)
c.3365C= (p.Pro1122=)
c.*133C= (n.*133C=)
c.3341C= (p.Pro1114=)
c.905C=
c.2966C= (p.Pro989=)
n.1881C=
n.983C=
c.5099C= (p.Pro1700=)
c.5141C= (p.Pro1714=)
c.5120C= (p.Pro1707=)
c.5114C= (p.Pro1705=)
c.5093C= (p.Pro1698=)
c.4004C= (p.Pro1335=)
c.5102C= (p.Pro1701=)
n.984C=
11g.70473290G>TCA381676332SHANK2c.3362C>A (p.Pro1121His)
c.907C>A (n.907C>A)
c.5129C>A (p.Pro1710His)
c.2638C>A
c.3992C>A (p.Pro1331His)
c.3419C>A (p.Pro1140His)
c.3365C>A (p.Pro1122His)
c.*133C>A (n.*133C>A)
c.3341C>A (p.Pro1114His)
c.905C>A
c.2966C>A (p.Pro989His)
n.1881C>A
n.983C>A
c.5099C>A (p.Pro1700His)
c.5141C>A (p.Pro1714His)
c.5120C>A (p.Pro1707His)
c.5114C>A (p.Pro1705His)
c.5093C>A (p.Pro1698His)
c.4004C>A (p.Pro1335His)
c.5102C>A (p.Pro1701His)
n.984C>A
11g.70473291G>ACA381676335SHANK2c.3361C>T (p.Pro1121Ser)
c.906C>T (n.906C>T)
c.5128C>T (p.Pro1710Ser)
c.2637C>T
c.3991C>T (p.Pro1331Ser)
c.3418C>T (p.Pro1140Ser)
c.3364C>T (p.Pro1122Ser)
c.*132C>T (n.*132C>T)
c.3340C>T (p.Pro1114Ser)
c.904C>T
c.2965C>T (p.Pro989Ser)
n.1880C>T
n.982C>T
c.5098C>T (p.Pro1700Ser)
c.5140C>T (p.Pro1714Ser)
c.5119C>T (p.Pro1707Ser)
c.5113C>T (p.Pro1705Ser)
c.5092C>T (p.Pro1698Ser)
c.4003C>T (p.Pro1335Ser)
c.5101C>T (p.Pro1701Ser)
n.983C>T
11g.70473291G>CCA381676333SHANK2c.3361C>G (p.Pro1121Ala)
c.906C>G (n.906C>G)
c.5128C>G (p.Pro1710Ala)
c.2637C>G
c.3991C>G (p.Pro1331Ala)
c.3418C>G (p.Pro1140Ala)
c.3364C>G (p.Pro1122Ala)
c.*132C>G (n.*132C>G)
c.3340C>G (p.Pro1114Ala)
c.904C>G
c.2965C>G (p.Pro989Ala)
n.1880C>G
n.982C>G
c.5098C>G (p.Pro1700Ala)
c.5140C>G (p.Pro1714Ala)
c.5119C>G (p.Pro1707Ala)
c.5113C>G (p.Pro1705Ala)
c.5092C>G (p.Pro1698Ala)
c.4003C>G (p.Pro1335Ala)
c.5101C>G (p.Pro1701Ala)
n.983C>G
11g.70473291G>TCA381676334SHANK2c.3361C>A (p.Pro1121Thr)
c.906C>A (n.906C>A)
c.5128C>A (p.Pro1710Thr)
c.2637C>A
c.3991C>A (p.Pro1331Thr)
c.3418C>A (p.Pro1140Thr)
c.3364C>A (p.Pro1122Thr)
c.*132C>A (n.*132C>A)
c.3340C>A (p.Pro1114Thr)
c.904C>A
c.2965C>A (p.Pro989Thr)
n.1880C>A
n.982C>A
c.5098C>A (p.Pro1700Thr)
c.5140C>A (p.Pro1714Thr)
c.5119C>A (p.Pro1707Thr)
c.5113C>A (p.Pro1705Thr)
c.5092C>A (p.Pro1698Thr)
c.4003C>A (p.Pro1335Thr)
c.5101C>A (p.Pro1701Thr)
n.983C>A
11g.70473292G>ACA475470722SHANK2c.3360C>T (p.Ser1120=)
c.905C>T (n.905C>T)
c.5127C>T (p.Ser1709=)
c.2636C>T
c.3990C>T (p.Ser1330=)
c.3417C>T (p.Ser1139=)
c.3363C>T (p.Ser1121=)
c.*131C>T (n.*131C>T)
c.3339C>T (p.Ser1113=)
c.903C>T
c.2964C>T (p.Ser988=)
n.1879C>T
n.981C>T
c.5097C>T (p.Ser1699=)
c.5139C>T (p.Ser1713=)
c.5118C>T (p.Ser1706=)
c.5112C>T (p.Ser1704=)
c.5091C>T (p.Ser1697=)
c.4002C>T (p.Ser1334=)
c.5100C>T (p.Ser1700=)
n.982C>T
 gnomAD v4
11g.70473292G>CCA381676336SHANK2c.3360C>G (p.Ser1120Arg)
c.905C>G (n.905C>G)
c.5127C>G (p.Ser1709Arg)
c.2636C>G
c.3990C>G (p.Ser1330Arg)
c.3417C>G (p.Ser1139Arg)
c.3363C>G (p.Ser1121Arg)
c.*131C>G (n.*131C>G)
c.3339C>G (p.Ser1113Arg)
c.903C>G
c.2964C>G (p.Ser988Arg)
n.1879C>G
n.981C>G
c.5097C>G (p.Ser1699Arg)
c.5139C>G (p.Ser1713Arg)
c.5118C>G (p.Ser1706Arg)
c.5112C>G (p.Ser1704Arg)
c.5091C>G (p.Ser1697Arg)
c.4002C>G (p.Ser1334Arg)
c.5100C>G (p.Ser1700Arg)
n.982C>G
11g.70473292G=CA1981067987SHANK2c.3360C= (p.Ser1120=)
c.905C= (n.905C=)
c.5127C= (p.Ser1709=)
c.2636C=
c.3990C= (p.Ser1330=)
c.3417C= (p.Ser1139=)
c.3363C= (p.Ser1121=)
c.*131C= (n.*131C=)
c.3339C= (p.Ser1113=)
c.903C=
c.2964C= (p.Ser988=)
n.1879C=
n.981C=
c.5097C= (p.Ser1699=)
c.5139C= (p.Ser1713=)
c.5118C= (p.Ser1706=)
c.5112C= (p.Ser1704=)
c.5091C= (p.Ser1697=)
c.4002C= (p.Ser1334=)
c.5100C= (p.Ser1700=)
n.982C=
11g.70473292G>TCA6160765SHANK2c.3360C>A (p.Ser1120Arg)
c.905C>A (n.905C>A)
c.5127C>A (p.Ser1709Arg)
c.2636C>A
c.3990C>A (p.Ser1330Arg)
c.3417C>A (p.Ser1139Arg)
c.3363C>A (p.Ser1121Arg)
c.*131C>A (n.*131C>A)
c.3339C>A (p.Ser1113Arg)
c.903C>A
c.2964C>A (p.Ser988Arg)
n.1879C>A
n.981C>A
c.5097C>A (p.Ser1699Arg)
c.5139C>A (p.Ser1713Arg)
c.5118C>A (p.Ser1706Arg)
c.5112C>A (p.Ser1704Arg)
c.5091C>A (p.Ser1697Arg)
c.4002C>A (p.Ser1334Arg)
c.5100C>A (p.Ser1700Arg)
n.982C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473293C>ACA381676337SHANK2c.3359G>T (p.Ser1120Ile)
c.904G>T (n.904G>T)
c.5126G>T (p.Ser1709Ile)
c.2635G>T
c.3989G>T (p.Ser1330Ile)
c.3416G>T (p.Ser1139Ile)
c.3362G>T (p.Ser1121Ile)
c.*130G>T (n.*130G>T)
c.3338G>T (p.Ser1113Ile)
c.902G>T
c.2963G>T (p.Ser988Ile)
n.1878G>T
n.980G>T
c.5096G>T (p.Ser1699Ile)
c.5138G>T (p.Ser1713Ile)
c.5117G>T (p.Ser1706Ile)
c.5111G>T (p.Ser1704Ile)
c.5090G>T (p.Ser1697Ile)
c.4001G>T (p.Ser1334Ile)
c.5099G>T (p.Ser1700Ile)
n.981G>T
 gnomAD v4
11g.70473293C>GCA381676338SHANK2c.3359G>C (p.Ser1120Thr)
c.904G>C (n.904G>C)
c.5126G>C (p.Ser1709Thr)
c.2635G>C
c.3989G>C (p.Ser1330Thr)
c.3416G>C (p.Ser1139Thr)
c.3362G>C (p.Ser1121Thr)
c.*130G>C (n.*130G>C)
c.3338G>C (p.Ser1113Thr)
c.902G>C
c.2963G>C (p.Ser988Thr)
n.1878G>C
n.980G>C
c.5096G>C (p.Ser1699Thr)
c.5138G>C (p.Ser1713Thr)
c.5117G>C (p.Ser1706Thr)
c.5111G>C (p.Ser1704Thr)
c.5090G>C (p.Ser1697Thr)
c.4001G>C (p.Ser1334Thr)
c.5099G>C (p.Ser1700Thr)
n.981G>C
11g.70473293C>TCA381676339SHANK2c.3359G>A (p.Ser1120Asn)
c.904G>A (n.904G>A)
c.5126G>A (p.Ser1709Asn)
c.2635G>A
c.3989G>A (p.Ser1330Asn)
c.3416G>A (p.Ser1139Asn)
c.3362G>A (p.Ser1121Asn)
c.*130G>A (n.*130G>A)
c.3338G>A (p.Ser1113Asn)
c.902G>A
c.2963G>A (p.Ser988Asn)
n.1878G>A
n.980G>A
c.5096G>A (p.Ser1699Asn)
c.5138G>A (p.Ser1713Asn)
c.5117G>A (p.Ser1706Asn)
c.5111G>A (p.Ser1704Asn)
c.5090G>A (p.Ser1697Asn)
c.4001G>A (p.Ser1334Asn)
c.5099G>A (p.Ser1700Asn)
n.981G>A
11g.70473294T>ACA381676340SHANK2c.3358A>T (p.Ser1120Cys)
c.903A>T (n.903A>T)
c.5125A>T (p.Ser1709Cys)
c.2634A>T
c.3988A>T (p.Ser1330Cys)
c.3415A>T (p.Ser1139Cys)
c.3361A>T (p.Ser1121Cys)
c.*129A>T (n.*129A>T)
c.3337A>T (p.Ser1113Cys)
c.901A>T
c.2962A>T (p.Ser988Cys)
n.1877A>T
n.979A>T
c.5095A>T (p.Ser1699Cys)
c.5137A>T (p.Ser1713Cys)
c.5116A>T (p.Ser1706Cys)
c.5110A>T (p.Ser1704Cys)
c.5089A>T (p.Ser1697Cys)
c.4000A>T (p.Ser1334Cys)
c.5098A>T (p.Ser1700Cys)
n.980A>T
11g.70473294T>CCA381676342SHANK2c.3358A>G (p.Ser1120Gly)
c.903A>G (n.903A>G)
c.5125A>G (p.Ser1709Gly)
c.2634A>G
c.3988A>G (p.Ser1330Gly)
c.3415A>G (p.Ser1139Gly)
c.3361A>G (p.Ser1121Gly)
c.*129A>G (n.*129A>G)
c.3337A>G (p.Ser1113Gly)
c.901A>G
c.2962A>G (p.Ser988Gly)
n.1877A>G
n.979A>G
c.5095A>G (p.Ser1699Gly)
c.5137A>G (p.Ser1713Gly)
c.5116A>G (p.Ser1706Gly)
c.5110A>G (p.Ser1704Gly)
c.5089A>G (p.Ser1697Gly)
c.4000A>G (p.Ser1334Gly)
c.5098A>G (p.Ser1700Gly)
n.980A>G
11g.70473294T>GCA381676341SHANK2c.3358A>C (p.Ser1120Arg)
c.903A>C (n.903A>C)
c.5125A>C (p.Ser1709Arg)
c.2634A>C
c.3988A>C (p.Ser1330Arg)
c.3415A>C (p.Ser1139Arg)
c.3361A>C (p.Ser1121Arg)
c.*129A>C (n.*129A>C)
c.3337A>C (p.Ser1113Arg)
c.901A>C
c.2962A>C (p.Ser988Arg)
n.1877A>C
n.979A>C
c.5095A>C (p.Ser1699Arg)
c.5137A>C (p.Ser1713Arg)
c.5116A>C (p.Ser1706Arg)
c.5110A>C (p.Ser1704Arg)
c.5089A>C (p.Ser1697Arg)
c.4000A>C (p.Ser1334Arg)
c.5098A>C (p.Ser1700Arg)
n.980A>C
11g.70473295T>ACA475470725SHANK2c.3357A>T (p.Pro1119=)
c.902A>T (n.902A>T)
c.5124A>T (p.Pro1708=)
c.2633A>T
c.3987A>T (p.Pro1329=)
c.3414A>T (p.Pro1138=)
c.3360A>T (p.Pro1120=)
c.*128A>T (n.*128A>T)
c.3336A>T (p.Pro1112=)
c.900A>T
c.2961A>T (p.Pro987=)
n.1876A>T
n.978A>T
c.5094A>T (p.Pro1698=)
c.5136A>T (p.Pro1712=)
c.5115A>T (p.Pro1705=)
c.5109A>T (p.Pro1703=)
c.5088A>T (p.Pro1696=)
c.3999A>T (p.Pro1333=)
c.5097A>T (p.Pro1699=)
n.979A>T
11g.70473295T>CCA475470726SHANK2c.3357A>G (p.Pro1119=)
c.902A>G (n.902A>G)
c.5124A>G (p.Pro1708=)
c.2633A>G
c.3987A>G (p.Pro1329=)
c.3414A>G (p.Pro1138=)
c.3360A>G (p.Pro1120=)
c.*128A>G (n.*128A>G)
c.3336A>G (p.Pro1112=)
c.900A>G
c.2961A>G (p.Pro987=)
n.1876A>G
n.978A>G
c.5094A>G (p.Pro1698=)
c.5136A>G (p.Pro1712=)
c.5115A>G (p.Pro1705=)
c.5109A>G (p.Pro1703=)
c.5088A>G (p.Pro1696=)
c.3999A>G (p.Pro1333=)
c.5097A>G (p.Pro1699=)
n.979A>G
 dbSNP gnomAD v2 gnomAD v4
11g.70473295T>GCA475470727SHANK2c.3357A>C (p.Pro1119=)
c.902A>C (n.902A>C)
c.5124A>C (p.Pro1708=)
c.2633A>C
c.3987A>C (p.Pro1329=)
c.3414A>C (p.Pro1138=)
c.3360A>C (p.Pro1120=)
c.*128A>C (n.*128A>C)
c.3336A>C (p.Pro1112=)
c.900A>C
c.2961A>C (p.Pro987=)
n.1876A>C
n.978A>C
c.5094A>C (p.Pro1698=)
c.5136A>C (p.Pro1712=)
c.5115A>C (p.Pro1705=)
c.5109A>C (p.Pro1703=)
c.5088A>C (p.Pro1696=)
c.3999A>C (p.Pro1333=)
c.5097A>C (p.Pro1699=)
n.979A>C
11g.70473295T=CA1981067988SHANK2c.3357A= (p.Pro1119=)
c.902A= (n.902A=)
c.5124A= (p.Pro1708=)
c.2633A=
c.3987A= (p.Pro1329=)
c.3414A= (p.Pro1138=)
c.3360A= (p.Pro1120=)
c.*128A= (n.*128A=)
c.3336A= (p.Pro1112=)
c.900A=
c.2961A= (p.Pro987=)
n.1876A=
n.978A=
c.5094A= (p.Pro1698=)
c.5136A= (p.Pro1712=)
c.5115A= (p.Pro1705=)
c.5109A= (p.Pro1703=)
c.5088A= (p.Pro1696=)
c.3999A= (p.Pro1333=)
c.5097A= (p.Pro1699=)
n.979A=
11g.70473296G>ACA381676343SHANK2c.3356C>T (p.Pro1119Leu)
c.901C>T (n.901C>T)
c.5123C>T (p.Pro1708Leu)
c.2632C>T
c.3986C>T (p.Pro1329Leu)
c.3413C>T (p.Pro1138Leu)
c.3359C>T (p.Pro1120Leu)
c.*127C>T (n.*127C>T)
c.3335C>T (p.Pro1112Leu)
c.899C>T
c.2960C>T (p.Pro987Leu)
n.1875C>T
n.977C>T
c.5093C>T (p.Pro1698Leu)
c.5135C>T (p.Pro1712Leu)
c.5114C>T (p.Pro1705Leu)
c.5108C>T (p.Pro1703Leu)
c.5087C>T (p.Pro1696Leu)
c.3998C>T (p.Pro1333Leu)
c.5096C>T (p.Pro1699Leu)
n.978C>T
11g.70473296G>CCA381676344SHANK2c.3356C>G (p.Pro1119Arg)
c.901C>G (n.901C>G)
c.5123C>G (p.Pro1708Arg)
c.2632C>G
c.3986C>G (p.Pro1329Arg)
c.3413C>G (p.Pro1138Arg)
c.3359C>G (p.Pro1120Arg)
c.*127C>G (n.*127C>G)
c.3335C>G (p.Pro1112Arg)
c.899C>G
c.2960C>G (p.Pro987Arg)
n.1875C>G
n.977C>G
c.5093C>G (p.Pro1698Arg)
c.5135C>G (p.Pro1712Arg)
c.5114C>G (p.Pro1705Arg)
c.5108C>G (p.Pro1703Arg)
c.5087C>G (p.Pro1696Arg)
c.3998C>G (p.Pro1333Arg)
c.5096C>G (p.Pro1699Arg)
n.978C>G
11g.70473296G>TCA381676345SHANK2c.3356C>A (p.Pro1119Gln)
c.901C>A (n.901C>A)
c.5123C>A (p.Pro1708Gln)
c.2632C>A
c.3986C>A (p.Pro1329Gln)
c.3413C>A (p.Pro1138Gln)
c.3359C>A (p.Pro1120Gln)
c.*127C>A (n.*127C>A)
c.3335C>A (p.Pro1112Gln)
c.899C>A
c.2960C>A (p.Pro987Gln)
n.1875C>A
n.977C>A
c.5093C>A (p.Pro1698Gln)
c.5135C>A (p.Pro1712Gln)
c.5114C>A (p.Pro1705Gln)
c.5108C>A (p.Pro1703Gln)
c.5087C>A (p.Pro1696Gln)
c.3998C>A (p.Pro1333Gln)
c.5096C>A (p.Pro1699Gln)
n.978C>A
11g.70473297G>ACA381676346SHANK2c.3355C>T (p.Pro1119Ser)
c.900C>T (n.900C>T)
c.5122C>T (p.Pro1708Ser)
c.2631C>T
c.3985C>T (p.Pro1329Ser)
c.3412C>T (p.Pro1138Ser)
c.3358C>T (p.Pro1120Ser)
c.*126C>T (n.*126C>T)
c.3334C>T (p.Pro1112Ser)
c.898C>T
c.2959C>T (p.Pro987Ser)
n.1874C>T
n.976C>T
c.5092C>T (p.Pro1698Ser)
c.5134C>T (p.Pro1712Ser)
c.5113C>T (p.Pro1705Ser)
c.5107C>T (p.Pro1703Ser)
c.5086C>T (p.Pro1696Ser)
c.3997C>T (p.Pro1333Ser)
c.5095C>T (p.Pro1699Ser)
n.977C>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473297G>CCA381676347SHANK2c.3355C>G (p.Pro1119Ala)
c.900C>G (n.900C>G)
c.5122C>G (p.Pro1708Ala)
c.2631C>G
c.3985C>G (p.Pro1329Ala)
c.3412C>G (p.Pro1138Ala)
c.3358C>G (p.Pro1120Ala)
c.*126C>G (n.*126C>G)
c.3334C>G (p.Pro1112Ala)
c.898C>G
c.2959C>G (p.Pro987Ala)
n.1874C>G
n.976C>G
c.5092C>G (p.Pro1698Ala)
c.5134C>G (p.Pro1712Ala)
c.5113C>G (p.Pro1705Ala)
c.5107C>G (p.Pro1703Ala)
c.5086C>G (p.Pro1696Ala)
c.3997C>G (p.Pro1333Ala)
c.5095C>G (p.Pro1699Ala)
n.977C>G
11g.70473297G=CA1981067989SHANK2c.3355C= (p.Pro1119=)
c.900C= (n.900C=)
c.5122C= (p.Pro1708=)
c.2631C=
c.3985C= (p.Pro1329=)
c.3412C= (p.Pro1138=)
c.3358C= (p.Pro1120=)
c.*126C= (n.*126C=)
c.3334C= (p.Pro1112=)
c.898C=
c.2959C= (p.Pro987=)
n.1874C=
n.976C=
c.5092C= (p.Pro1698=)
c.5134C= (p.Pro1712=)
c.5113C= (p.Pro1705=)
c.5107C= (p.Pro1703=)
c.5086C= (p.Pro1696=)
c.3997C= (p.Pro1333=)
c.5095C= (p.Pro1699=)
n.977C=
11g.70473297G>TCA381676348SHANK2c.3355C>A (p.Pro1119Thr)
c.900C>A (n.900C>A)
c.5122C>A (p.Pro1708Thr)
c.2631C>A
c.3985C>A (p.Pro1329Thr)
c.3412C>A (p.Pro1138Thr)
c.3358C>A (p.Pro1120Thr)
c.*126C>A (n.*126C>A)
c.3334C>A (p.Pro1112Thr)
c.898C>A
c.2959C>A (p.Pro987Thr)
n.1874C>A
n.976C>A
c.5092C>A (p.Pro1698Thr)
c.5134C>A (p.Pro1712Thr)
c.5113C>A (p.Pro1705Thr)
c.5107C>A (p.Pro1703Thr)
c.5086C>A (p.Pro1696Thr)
c.3997C>A (p.Pro1333Thr)
c.5095C>A (p.Pro1699Thr)
n.977C>A
11g.70473298G>ACA475470728SHANK2c.3354C>T (p.Ala1118=)
c.899C>T (n.899C>T)
c.5121C>T (p.Ala1707=)
c.2630C>T
c.3984C>T (p.Ala1328=)
c.3411C>T (p.Ala1137=)
c.3357C>T (p.Ala1119=)
c.*125C>T (n.*125C>T)
c.3333C>T (p.Ala1111=)
c.897C>T
c.2958C>T (p.Ala986=)
n.1873C>T
n.975C>T
c.5091C>T (p.Ala1697=)
c.5133C>T (p.Ala1711=)
c.5112C>T (p.Ala1704=)
c.5106C>T (p.Ala1702=)
c.5085C>T (p.Ala1695=)
c.3996C>T (p.Ala1332=)
c.5094C>T (p.Ala1698=)
n.976C>T
11g.70473298G>CCA475470729SHANK2c.3354C>G (p.Ala1118=)
c.899C>G (n.899C>G)
c.5121C>G (p.Ala1707=)
c.2630C>G
c.3984C>G (p.Ala1328=)
c.3411C>G (p.Ala1137=)
c.3357C>G (p.Ala1119=)
c.*125C>G (n.*125C>G)
c.3333C>G (p.Ala1111=)
c.897C>G
c.2958C>G (p.Ala986=)
n.1873C>G
n.975C>G
c.5091C>G (p.Ala1697=)
c.5133C>G (p.Ala1711=)
c.5112C>G (p.Ala1704=)
c.5106C>G (p.Ala1702=)
c.5085C>G (p.Ala1695=)
c.3996C>G (p.Ala1332=)
c.5094C>G (p.Ala1698=)
n.976C>G
11g.70473298G>TCA475470730SHANK2c.3354C>A (p.Ala1118=)
c.899C>A (n.899C>A)
c.5121C>A (p.Ala1707=)
c.2630C>A
c.3984C>A (p.Ala1328=)
c.3411C>A (p.Ala1137=)
c.3357C>A (p.Ala1119=)
c.*125C>A (n.*125C>A)
c.3333C>A (p.Ala1111=)
c.897C>A
c.2958C>A (p.Ala986=)
n.1873C>A
n.975C>A
c.5091C>A (p.Ala1697=)
c.5133C>A (p.Ala1711=)
c.5112C>A (p.Ala1704=)
c.5106C>A (p.Ala1702=)
c.5085C>A (p.Ala1695=)
c.3996C>A (p.Ala1332=)
c.5094C>A (p.Ala1698=)
n.976C>A
11g.70473299G>ACA381676349SHANK2c.3353C>T (p.Ala1118Val)
c.898C>T (n.898C>T)
c.5120C>T (p.Ala1707Val)
c.2629C>T
c.3983C>T (p.Ala1328Val)
c.3410C>T (p.Ala1137Val)
c.3356C>T (p.Ala1119Val)
c.*124C>T (n.*124C>T)
c.3332C>T (p.Ala1111Val)
c.896C>T
c.2957C>T (p.Ala986Val)
n.1872C>T
n.974C>T
c.5090C>T (p.Ala1697Val)
c.5132C>T (p.Ala1711Val)
c.5111C>T (p.Ala1704Val)
c.5105C>T (p.Ala1702Val)
c.5084C>T (p.Ala1695Val)
c.3995C>T (p.Ala1332Val)
c.5093C>T (p.Ala1698Val)
n.975C>T
11g.70473299G>CCA381676350SHANK2c.3353C>G (p.Ala1118Gly)
c.898C>G (n.898C>G)
c.5120C>G (p.Ala1707Gly)
c.2629C>G
c.3983C>G (p.Ala1328Gly)
c.3410C>G (p.Ala1137Gly)
c.3356C>G (p.Ala1119Gly)
c.*124C>G (n.*124C>G)
c.3332C>G (p.Ala1111Gly)
c.896C>G
c.2957C>G (p.Ala986Gly)
n.1872C>G
n.974C>G
c.5090C>G (p.Ala1697Gly)
c.5132C>G (p.Ala1711Gly)
c.5111C>G (p.Ala1704Gly)
c.5105C>G (p.Ala1702Gly)
c.5084C>G (p.Ala1695Gly)
c.3995C>G (p.Ala1332Gly)
c.5093C>G (p.Ala1698Gly)
n.975C>G
11g.70473299G>TCA381676351SHANK2c.3353C>A (p.Ala1118Asp)
c.898C>A (n.898C>A)
c.5120C>A (p.Ala1707Asp)
c.2629C>A
c.3983C>A (p.Ala1328Asp)
c.3410C>A (p.Ala1137Asp)
c.3356C>A (p.Ala1119Asp)
c.*124C>A (n.*124C>A)
c.3332C>A (p.Ala1111Asp)
c.896C>A
c.2957C>A (p.Ala986Asp)
n.1872C>A
n.974C>A
c.5090C>A (p.Ala1697Asp)
c.5132C>A (p.Ala1711Asp)
c.5111C>A (p.Ala1704Asp)
c.5105C>A (p.Ala1702Asp)
c.5084C>A (p.Ala1695Asp)
c.3995C>A (p.Ala1332Asp)
c.5093C>A (p.Ala1698Asp)
n.975C>A
 gnomAD v4
11g.70473300C>ACA381676352SHANK2c.3352G>T (p.Ala1118Ser)
c.897G>T (n.897G>T)
c.5119G>T (p.Ala1707Ser)
c.2628G>T
c.3982G>T (p.Ala1328Ser)
c.3409G>T (p.Ala1137Ser)
c.3355G>T (p.Ala1119Ser)
c.*123G>T (n.*123G>T)
c.3331G>T (p.Ala1111Ser)
c.895G>T
c.2956G>T (p.Ala986Ser)
n.1871G>T
n.973G>T
c.5089G>T (p.Ala1697Ser)
c.5131G>T (p.Ala1711Ser)
c.5110G>T (p.Ala1704Ser)
c.5104G>T (p.Ala1702Ser)
c.5083G>T (p.Ala1695Ser)
c.3994G>T (p.Ala1332Ser)
c.5092G>T (p.Ala1698Ser)
n.974G>T
11g.70473300C>GCA381676353SHANK2c.3352G>C (p.Ala1118Pro)
c.897G>C (n.897G>C)
c.5119G>C (p.Ala1707Pro)
c.2628G>C
c.3982G>C (p.Ala1328Pro)
c.3409G>C (p.Ala1137Pro)
c.3355G>C (p.Ala1119Pro)
c.*123G>C (n.*123G>C)
c.3331G>C (p.Ala1111Pro)
c.895G>C
c.2956G>C (p.Ala986Pro)
n.1871G>C
n.973G>C
c.5089G>C (p.Ala1697Pro)
c.5131G>C (p.Ala1711Pro)
c.5110G>C (p.Ala1704Pro)
c.5104G>C (p.Ala1702Pro)
c.5083G>C (p.Ala1695Pro)
c.3994G>C (p.Ala1332Pro)
c.5092G>C (p.Ala1698Pro)
n.974G>C
11g.70473300C>TCA381676354SHANK2c.3352G>A (p.Ala1118Thr)
c.897G>A (n.897G>A)
c.5119G>A (p.Ala1707Thr)
c.2628G>A
c.3982G>A (p.Ala1328Thr)
c.3409G>A (p.Ala1137Thr)
c.3355G>A (p.Ala1119Thr)
c.*123G>A (n.*123G>A)
c.3331G>A (p.Ala1111Thr)
c.895G>A
c.2956G>A (p.Ala986Thr)
n.1871G>A
n.973G>A
c.5089G>A (p.Ala1697Thr)
c.5131G>A (p.Ala1711Thr)
c.5110G>A (p.Ala1704Thr)
c.5104G>A (p.Ala1702Thr)
c.5083G>A (p.Ala1695Thr)
c.3994G>A (p.Ala1332Thr)
c.5092G>A (p.Ala1698Thr)
n.974G>A
11g.70473301A=CA1981067990SHANK2c.3351T= (p.Arg1117=)
c.896T= (n.896T=)
c.5118T= (p.Arg1706=)
c.2627T=
c.3981T= (p.Arg1327=)
c.3408T= (p.Arg1136=)
c.3354T= (p.Arg1118=)
c.*122T= (n.*122T=)
c.3330T= (p.Arg1110=)
c.894T=
c.2955T= (p.Arg985=)
n.1870T=
n.972T=
c.5088T= (p.Arg1696=)
c.5130T= (p.Arg1710=)
c.5109T= (p.Arg1703=)
c.5103T= (p.Arg1701=)
c.5082T= (p.Arg1694=)
c.3993T= (p.Arg1331=)
c.5091T= (p.Arg1697=)
n.973T=
11g.70473301A>CCA475470731SHANK2c.3351T>G (p.Arg1117=)
c.896T>G (n.896T>G)
c.5118T>G (p.Arg1706=)
c.2627T>G
c.3981T>G (p.Arg1327=)
c.3408T>G (p.Arg1136=)
c.3354T>G (p.Arg1118=)
c.*122T>G (n.*122T>G)
c.3330T>G (p.Arg1110=)
c.894T>G
c.2955T>G (p.Arg985=)
n.1870T>G
n.972T>G
c.5088T>G (p.Arg1696=)
c.5130T>G (p.Arg1710=)
c.5109T>G (p.Arg1703=)
c.5103T>G (p.Arg1701=)
c.5082T>G (p.Arg1694=)
c.3993T>G (p.Arg1331=)
c.5091T>G (p.Arg1697=)
n.973T>G
11g.70473301A>GCA475470732SHANK2c.3351T>C (p.Arg1117=)
c.896T>C (n.896T>C)
c.5118T>C (p.Arg1706=)
c.2627T>C
c.3981T>C (p.Arg1327=)
c.3408T>C (p.Arg1136=)
c.3354T>C (p.Arg1118=)
c.*122T>C (n.*122T>C)
c.3330T>C (p.Arg1110=)
c.894T>C
c.2955T>C (p.Arg985=)
n.1870T>C
n.972T>C
c.5088T>C (p.Arg1696=)
c.5130T>C (p.Arg1710=)
c.5109T>C (p.Arg1703=)
c.5103T>C (p.Arg1701=)
c.5082T>C (p.Arg1694=)
c.3993T>C (p.Arg1331=)
c.5091T>C (p.Arg1697=)
n.973T>C
 dbSNP gnomAD v2 gnomAD v4
11g.70473301A>TCA475470733SHANK2c.3351T>A (p.Arg1117=)
c.896T>A (n.896T>A)
c.5118T>A (p.Arg1706=)
c.2627T>A
c.3981T>A (p.Arg1327=)
c.3408T>A (p.Arg1136=)
c.3354T>A (p.Arg1118=)
c.*122T>A (n.*122T>A)
c.3330T>A (p.Arg1110=)
c.894T>A
c.2955T>A (p.Arg985=)
n.1870T>A
n.972T>A
c.5088T>A (p.Arg1696=)
c.5130T>A (p.Arg1710=)
c.5109T>A (p.Arg1703=)
c.5103T>A (p.Arg1701=)
c.5082T>A (p.Arg1694=)
c.3993T>A (p.Arg1331=)
c.5091T>A (p.Arg1697=)
n.973T>A
11g.70473302C>ACA381676355SHANK2c.3350G>T (p.Arg1117Leu)
c.895G>T (n.895G>T)
c.5117G>T (p.Arg1706Leu)
c.2626G>T
c.3980G>T (p.Arg1327Leu)
c.3407G>T (p.Arg1136Leu)
c.3353G>T (p.Arg1118Leu)
c.*121G>T (n.*121G>T)
c.3329G>T (p.Arg1110Leu)
c.893G>T
c.2954G>T (p.Arg985Leu)
n.1869G>T
n.971G>T
c.5087G>T (p.Arg1696Leu)
c.5129G>T (p.Arg1710Leu)
c.5108G>T (p.Arg1703Leu)
c.5102G>T (p.Arg1701Leu)
c.5081G>T (p.Arg1694Leu)
c.3992G>T (p.Arg1331Leu)
c.5090G>T (p.Arg1697Leu)
n.972G>T
11g.70473302C=CA1981067991SHANK2c.3350G= (p.Arg1117=)
c.895G= (n.895G=)
c.5117G= (p.Arg1706=)
c.2626G=
c.3980G= (p.Arg1327=)
c.3407G= (p.Arg1136=)
c.3353G= (p.Arg1118=)
c.*121G= (n.*121G=)
c.3329G= (p.Arg1110=)
c.893G=
c.2954G= (p.Arg985=)
n.1869G=
n.971G=
c.5087G= (p.Arg1696=)
c.5129G= (p.Arg1710=)
c.5108G= (p.Arg1703=)
c.5102G= (p.Arg1701=)
c.5081G= (p.Arg1694=)
c.3992G= (p.Arg1331=)
c.5090G= (p.Arg1697=)
n.972G=
11g.70473302C>GCA381676356SHANK2c.3350G>C (p.Arg1117Pro)
c.895G>C (n.895G>C)
c.5117G>C (p.Arg1706Pro)
c.2626G>C
c.3980G>C (p.Arg1327Pro)
c.3407G>C (p.Arg1136Pro)
c.3353G>C (p.Arg1118Pro)
c.*121G>C (n.*121G>C)
c.3329G>C (p.Arg1110Pro)
c.893G>C
c.2954G>C (p.Arg985Pro)
n.1869G>C
n.971G>C
c.5087G>C (p.Arg1696Pro)
c.5129G>C (p.Arg1710Pro)
c.5108G>C (p.Arg1703Pro)
c.5102G>C (p.Arg1701Pro)
c.5081G>C (p.Arg1694Pro)
c.3992G>C (p.Arg1331Pro)
c.5090G>C (p.Arg1697Pro)
n.972G>C
11g.70473302C>TCA6160766SHANK2c.3350G>A (p.Arg1117His)
c.895G>A (n.895G>A)
c.5117G>A (p.Arg1706His)
c.2626G>A
c.3980G>A (p.Arg1327His)
c.3407G>A (p.Arg1136His)
c.3353G>A (p.Arg1118His)
c.*121G>A (n.*121G>A)
c.3329G>A (p.Arg1110His)
c.893G>A
c.2954G>A (p.Arg985His)
n.1869G>A
n.971G>A
c.5087G>A (p.Arg1696His)
c.5129G>A (p.Arg1710His)
c.5108G>A (p.Arg1703His)
c.5102G>A (p.Arg1701His)
c.5081G>A (p.Arg1694His)
c.3992G>A (p.Arg1331His)
c.5090G>A (p.Arg1697His)
n.972G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473303G>ACA6160767SHANK2c.3349C>T (p.Arg1117Cys)
c.894C>T (n.894C>T)
c.5116C>T (p.Arg1706Cys)
c.2625C>T
c.3979C>T (p.Arg1327Cys)
c.3406C>T (p.Arg1136Cys)
c.3352C>T (p.Arg1118Cys)
c.*120C>T (n.*120C>T)
c.3328C>T (p.Arg1110Cys)
c.892C>T
c.2953C>T (p.Arg985Cys)
n.1868C>T
n.970C>T
c.5086C>T (p.Arg1696Cys)
c.5128C>T (p.Arg1710Cys)
c.5107C>T (p.Arg1703Cys)
c.5101C>T (p.Arg1701Cys)
c.5080C>T (p.Arg1694Cys)
c.3991C>T (p.Arg1331Cys)
c.5089C>T (p.Arg1697Cys)
n.971C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.70473303G>CCA381676357SHANK2c.3349C>G (p.Arg1117Gly)
c.894C>G (n.894C>G)
c.5116C>G (p.Arg1706Gly)
c.2625C>G
c.3979C>G (p.Arg1327Gly)
c.3406C>G (p.Arg1136Gly)
c.3352C>G (p.Arg1118Gly)
c.*120C>G (n.*120C>G)
c.3328C>G (p.Arg1110Gly)
c.892C>G
c.2953C>G (p.Arg985Gly)
n.1868C>G
n.970C>G
c.5086C>G (p.Arg1696Gly)
c.5128C>G (p.Arg1710Gly)
c.5107C>G (p.Arg1703Gly)
c.5101C>G (p.Arg1701Gly)
c.5080C>G (p.Arg1694Gly)
c.3991C>G (p.Arg1331Gly)
c.5089C>G (p.Arg1697Gly)
n.971C>G
11g.70473303G=CA1981067992SHANK2c.3349C= (p.Arg1117=)
c.894C= (n.894C=)
c.5116C= (p.Arg1706=)
c.2625C=
c.3979C= (p.Arg1327=)
c.3406C= (p.Arg1136=)
c.3352C= (p.Arg1118=)
c.*120C= (n.*120C=)
c.3328C= (p.Arg1110=)
c.892C=
c.2953C= (p.Arg985=)
n.1868C=
n.970C=
c.5086C= (p.Arg1696=)
c.5128C= (p.Arg1710=)
c.5107C= (p.Arg1703=)
c.5101C= (p.Arg1701=)
c.5080C= (p.Arg1694=)
c.3991C= (p.Arg1331=)
c.5089C= (p.Arg1697=)
n.971C=
11g.70473303G>TCA6160768SHANK2c.3349C>A (p.Arg1117Ser)
c.894C>A (n.894C>A)
c.5116C>A (p.Arg1706Ser)
c.2625C>A
c.3979C>A (p.Arg1327Ser)
c.3406C>A (p.Arg1136Ser)
c.3352C>A (p.Arg1118Ser)
c.*120C>A (n.*120C>A)
c.3328C>A (p.Arg1110Ser)
c.892C>A
c.2953C>A (p.Arg985Ser)
n.1868C>A
n.970C>A
c.5086C>A (p.Arg1696Ser)
c.5128C>A (p.Arg1710Ser)
c.5107C>A (p.Arg1703Ser)
c.5101C>A (p.Arg1701Ser)
c.5080C>A (p.Arg1694Ser)
c.3991C>A (p.Arg1331Ser)
c.5089C>A (p.Arg1697Ser)
n.971C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473304T>ACA381676358SHANK2c.3348A>T (p.Arg1116Ser)
c.893A>T (n.893A>T)
c.5115A>T (p.Arg1705Ser)
c.2624A>T
c.3978A>T (p.Arg1326Ser)
c.3405A>T (p.Arg1135Ser)
c.3351A>T (p.Arg1117Ser)
c.*119A>T (n.*119A>T)
c.3327A>T (p.Arg1109Ser)
c.891A>T
c.2952A>T (p.Arg984Ser)
n.1867A>T
n.969A>T
c.5085A>T (p.Arg1695Ser)
c.5127A>T (p.Arg1709Ser)
c.5106A>T (p.Arg1702Ser)
c.5100A>T (p.Arg1700Ser)
c.5079A>T (p.Arg1693Ser)
c.3990A>T (p.Arg1330Ser)
c.5088A>T (p.Arg1696Ser)
n.970A>T
 dbSNP gnomAD v2 gnomAD v4
11g.70473304T>CCA475470734SHANK2c.3348A>G (p.Arg1116=)
c.893A>G (n.893A>G)
c.5115A>G (p.Arg1705=)
c.2624A>G
c.3978A>G (p.Arg1326=)
c.3405A>G (p.Arg1135=)
c.3351A>G (p.Arg1117=)
c.*119A>G (n.*119A>G)
c.3327A>G (p.Arg1109=)
c.891A>G
c.2952A>G (p.Arg984=)
n.1867A>G
n.969A>G
c.5085A>G (p.Arg1695=)
c.5127A>G (p.Arg1709=)
c.5106A>G (p.Arg1702=)
c.5100A>G (p.Arg1700=)
c.5079A>G (p.Arg1693=)
c.3990A>G (p.Arg1330=)
c.5088A>G (p.Arg1696=)
n.970A>G
11g.70473304T>GCA381676359SHANK2c.3348A>C (p.Arg1116Ser)
c.893A>C (n.893A>C)
c.5115A>C (p.Arg1705Ser)
c.2624A>C
c.3978A>C (p.Arg1326Ser)
c.3405A>C (p.Arg1135Ser)
c.3351A>C (p.Arg1117Ser)
c.*119A>C (n.*119A>C)
c.3327A>C (p.Arg1109Ser)
c.891A>C
c.2952A>C (p.Arg984Ser)
n.1867A>C
n.969A>C
c.5085A>C (p.Arg1695Ser)
c.5127A>C (p.Arg1709Ser)
c.5106A>C (p.Arg1702Ser)
c.5100A>C (p.Arg1700Ser)
c.5079A>C (p.Arg1693Ser)
c.3990A>C (p.Arg1330Ser)
c.5088A>C (p.Arg1696Ser)
n.970A>C
11g.70473304T=CA1981067993SHANK2c.3348A= (p.Arg1116=)
c.893A= (n.893A=)
c.5115A= (p.Arg1705=)
c.2624A=
c.3978A= (p.Arg1326=)
c.3405A= (p.Arg1135=)
c.3351A= (p.Arg1117=)
c.*119A= (n.*119A=)
c.3327A= (p.Arg1109=)
c.891A=
c.2952A= (p.Arg984=)
n.1867A=
n.969A=
c.5085A= (p.Arg1695=)
c.5127A= (p.Arg1709=)
c.5106A= (p.Arg1702=)
c.5100A= (p.Arg1700=)
c.5079A= (p.Arg1693=)
c.3990A= (p.Arg1330=)
c.5088A= (p.Arg1696=)
n.970A=
11g.70473305C>ACA381676362SHANK2c.3347G>T (p.Arg1116Ile)
c.892G>T (n.892G>T)
c.5114G>T (p.Arg1705Ile)
c.2623G>T
c.3977G>T (p.Arg1326Ile)
c.3404G>T (p.Arg1135Ile)
c.3350G>T (p.Arg1117Ile)
c.*118G>T (n.*118G>T)
c.3326G>T (p.Arg1109Ile)
c.890G>T
c.2951G>T (p.Arg984Ile)
n.1866G>T
n.968G>T
c.5084G>T (p.Arg1695Ile)
c.5126G>T (p.Arg1709Ile)
c.5105G>T (p.Arg1702Ile)
c.5099G>T (p.Arg1700Ile)
c.5078G>T (p.Arg1693Ile)
c.3989G>T (p.Arg1330Ile)
c.5087G>T (p.Arg1696Ile)
n.969G>T
11g.70473305C>GCA381676360SHANK2c.3347G>C (p.Arg1116Thr)
c.892G>C (n.892G>C)
c.5114G>C (p.Arg1705Thr)
c.2623G>C
c.3977G>C (p.Arg1326Thr)
c.3404G>C (p.Arg1135Thr)
c.3350G>C (p.Arg1117Thr)
c.*118G>C (n.*118G>C)
c.3326G>C (p.Arg1109Thr)
c.890G>C
c.2951G>C (p.Arg984Thr)
n.1866G>C
n.968G>C
c.5084G>C (p.Arg1695Thr)
c.5126G>C (p.Arg1709Thr)
c.5105G>C (p.Arg1702Thr)
c.5099G>C (p.Arg1700Thr)
c.5078G>C (p.Arg1693Thr)
c.3989G>C (p.Arg1330Thr)
c.5087G>C (p.Arg1696Thr)
n.969G>C
11g.70473305C>TCA381676361SHANK2c.3347G>A (p.Arg1116Lys)
c.892G>A (n.892G>A)
c.5114G>A (p.Arg1705Lys)
c.2623G>A
c.3977G>A (p.Arg1326Lys)
c.3404G>A (p.Arg1135Lys)
c.3350G>A (p.Arg1117Lys)
c.*118G>A (n.*118G>A)
c.3326G>A (p.Arg1109Lys)
c.890G>A
c.2951G>A (p.Arg984Lys)
n.1866G>A
n.968G>A
c.5084G>A (p.Arg1695Lys)
c.5126G>A (p.Arg1709Lys)
c.5105G>A (p.Arg1702Lys)
c.5099G>A (p.Arg1700Lys)
c.5078G>A (p.Arg1693Lys)
c.3989G>A (p.Arg1330Lys)
c.5087G>A (p.Arg1696Lys)
n.969G>A
11g.70473306T>ACA381676363SHANK2c.3346A>T (p.Arg1116Ter)
c.891A>T (n.891A>T)
c.5113A>T (p.Arg1705Ter)
c.2622A>T
c.3976A>T (p.Arg1326Ter)
c.3403A>T (p.Arg1135Ter)
c.3349A>T (p.Arg1117Ter)
c.*117A>T (n.*117A>T)
c.3325A>T (p.Arg1109Ter)
c.889A>T
c.2950A>T (p.Arg984Ter)
n.1865A>T
n.967A>T
c.5083A>T (p.Arg1695Ter)
c.5125A>T (p.Arg1709Ter)
c.5104A>T (p.Arg1702Ter)
c.5098A>T (p.Arg1700Ter)
c.5077A>T (p.Arg1693Ter)
c.3988A>T (p.Arg1330Ter)
c.5086A>T (p.Arg1696Ter)
n.968A>T
11g.70473306T>CCA381676364SHANK2c.3346A>G (p.Arg1116Gly)
c.891A>G (n.891A>G)
c.5113A>G (p.Arg1705Gly)
c.2622A>G
c.3976A>G (p.Arg1326Gly)
c.3403A>G (p.Arg1135Gly)
c.3349A>G (p.Arg1117Gly)
c.*117A>G (n.*117A>G)
c.3325A>G (p.Arg1109Gly)
c.889A>G
c.2950A>G (p.Arg984Gly)
n.1865A>G
n.967A>G
c.5083A>G (p.Arg1695Gly)
c.5125A>G (p.Arg1709Gly)
c.5104A>G (p.Arg1702Gly)
c.5098A>G (p.Arg1700Gly)
c.5077A>G (p.Arg1693Gly)
c.3988A>G (p.Arg1330Gly)
c.5086A>G (p.Arg1696Gly)
n.968A>G
 gnomAD v4
11g.70473306T>GCA475470735SHANK2c.3346A>C (p.Arg1116=)
c.891A>C (n.891A>C)
c.5113A>C (p.Arg1705=)
c.2622A>C
c.3976A>C (p.Arg1326=)
c.3403A>C (p.Arg1135=)
c.3349A>C (p.Arg1117=)
c.*117A>C (n.*117A>C)
c.3325A>C (p.Arg1109=)
c.889A>C
c.2950A>C (p.Arg984=)
n.1865A>C
n.967A>C
c.5083A>C (p.Arg1695=)
c.5125A>C (p.Arg1709=)
c.5104A>C (p.Arg1702=)
c.5098A>C (p.Arg1700=)
c.5077A>C (p.Arg1693=)
c.3988A>C (p.Arg1330=)
c.5086A>C (p.Arg1696=)
n.968A>C
11g.70473307T>ACA475470738SHANK2c.3345A>T (p.Thr1115=)
c.890A>T (n.890A>T)
c.5112A>T (p.Thr1704=)
c.2621A>T
c.3975A>T (p.Thr1325=)
c.3402A>T (p.Thr1134=)
c.3348A>T (p.Thr1116=)
c.*116A>T (n.*116A>T)
c.3324A>T (p.Thr1108=)
c.888A>T
c.2949A>T (p.Thr983=)
n.1864A>T
n.966A>T
c.5082A>T (p.Thr1694=)
c.5124A>T (p.Thr1708=)
c.5103A>T (p.Thr1701=)
c.5097A>T (p.Thr1699=)
c.5076A>T (p.Thr1692=)
c.3987A>T (p.Thr1329=)
c.5085A>T (p.Thr1695=)
n.967A>T
11g.70473307T>CCA475470737SHANK2c.3345A>G (p.Thr1115=)
c.890A>G (n.890A>G)
c.5112A>G (p.Thr1704=)
c.2621A>G
c.3975A>G (p.Thr1325=)
c.3402A>G (p.Thr1134=)
c.3348A>G (p.Thr1116=)
c.*116A>G (n.*116A>G)
c.3324A>G (p.Thr1108=)
c.888A>G
c.2949A>G (p.Thr983=)
n.1864A>G
n.966A>G
c.5082A>G (p.Thr1694=)
c.5124A>G (p.Thr1708=)
c.5103A>G (p.Thr1701=)
c.5097A>G (p.Thr1699=)
c.5076A>G (p.Thr1692=)
c.3987A>G (p.Thr1329=)
c.5085A>G (p.Thr1695=)
n.967A>G
11g.70473307T>GCA475470736SHANK2c.3345A>C (p.Thr1115=)
c.890A>C (n.890A>C)
c.5112A>C (p.Thr1704=)
c.2621A>C
c.3975A>C (p.Thr1325=)
c.3402A>C (p.Thr1134=)
c.3348A>C (p.Thr1116=)
c.*116A>C (n.*116A>C)
c.3324A>C (p.Thr1108=)
c.888A>C
c.2949A>C (p.Thr983=)
n.1864A>C
n.966A>C
c.5082A>C (p.Thr1694=)
c.5124A>C (p.Thr1708=)
c.5103A>C (p.Thr1701=)
c.5097A>C (p.Thr1699=)
c.5076A>C (p.Thr1692=)
c.3987A>C (p.Thr1329=)
c.5085A>C (p.Thr1695=)
n.967A>C
11g.70473308G>ACA381676365SHANK2c.3344C>T (p.Thr1115Ile)
c.889C>T (n.889C>T)
c.5111C>T (p.Thr1704Ile)
c.2620C>T
c.3974C>T (p.Thr1325Ile)
c.3401C>T (p.Thr1134Ile)
c.3347C>T (p.Thr1116Ile)
c.*115C>T (n.*115C>T)
c.3323C>T (p.Thr1108Ile)
c.887C>T
c.2948C>T (p.Thr983Ile)
n.1863C>T
n.965C>T
c.5081C>T (p.Thr1694Ile)
c.5123C>T (p.Thr1708Ile)
c.5102C>T (p.Thr1701Ile)
c.5096C>T (p.Thr1699Ile)
c.5075C>T (p.Thr1692Ile)
c.3986C>T (p.Thr1329Ile)
c.5084C>T (p.Thr1695Ile)
n.966C>T
 gnomAD v4
11g.70473308G>CCA381676366SHANK2c.3344C>G (p.Thr1115Arg)
c.889C>G (n.889C>G)
c.5111C>G (p.Thr1704Arg)
c.2620C>G
c.3974C>G (p.Thr1325Arg)
c.3401C>G (p.Thr1134Arg)
c.3347C>G (p.Thr1116Arg)
c.*115C>G (n.*115C>G)
c.3323C>G (p.Thr1108Arg)
c.887C>G
c.2948C>G (p.Thr983Arg)
n.1863C>G
n.965C>G
c.5081C>G (p.Thr1694Arg)
c.5123C>G (p.Thr1708Arg)
c.5102C>G (p.Thr1701Arg)
c.5096C>G (p.Thr1699Arg)
c.5075C>G (p.Thr1692Arg)
c.3986C>G (p.Thr1329Arg)
c.5084C>G (p.Thr1695Arg)
n.966C>G
11g.70473308G>TCA381676367SHANK2c.3344C>A (p.Thr1115Lys)
c.889C>A (n.889C>A)
c.5111C>A (p.Thr1704Lys)
c.2620C>A
c.3974C>A (p.Thr1325Lys)
c.3401C>A (p.Thr1134Lys)
c.3347C>A (p.Thr1116Lys)
c.*115C>A (n.*115C>A)
c.3323C>A (p.Thr1108Lys)
c.887C>A
c.2948C>A (p.Thr983Lys)
n.1863C>A
n.965C>A
c.5081C>A (p.Thr1694Lys)
c.5123C>A (p.Thr1708Lys)
c.5102C>A (p.Thr1701Lys)
c.5096C>A (p.Thr1699Lys)
c.5075C>A (p.Thr1692Lys)
c.3986C>A (p.Thr1329Lys)
c.5084C>A (p.Thr1695Lys)
n.966C>A
11g.70473309T>ACA381676370SHANK2c.3343A>T (p.Thr1115Ser)
c.888A>T (n.888A>T)
c.5110A>T (p.Thr1704Ser)
c.2619A>T
c.3973A>T (p.Thr1325Ser)
c.3400A>T (p.Thr1134Ser)
c.3346A>T (p.Thr1116Ser)
c.*114A>T (n.*114A>T)
c.3322A>T (p.Thr1108Ser)
c.886A>T
c.2947A>T (p.Thr983Ser)
n.1862A>T
n.964A>T
c.5080A>T (p.Thr1694Ser)
c.5122A>T (p.Thr1708Ser)
c.5101A>T (p.Thr1701Ser)
c.5095A>T (p.Thr1699Ser)
c.5074A>T (p.Thr1692Ser)
c.3985A>T (p.Thr1329Ser)
c.5083A>T (p.Thr1695Ser)
n.965A>T
11g.70473309T>CCA381676369SHANK2c.3343A>G (p.Thr1115Ala)
c.888A>G (n.888A>G)
c.5110A>G (p.Thr1704Ala)
c.2619A>G
c.3973A>G (p.Thr1325Ala)
c.3400A>G (p.Thr1134Ala)
c.3346A>G (p.Thr1116Ala)
c.*114A>G (n.*114A>G)
c.3322A>G (p.Thr1108Ala)
c.886A>G
c.2947A>G (p.Thr983Ala)
n.1862A>G
n.964A>G
c.5080A>G (p.Thr1694Ala)
c.5122A>G (p.Thr1708Ala)
c.5101A>G (p.Thr1701Ala)
c.5095A>G (p.Thr1699Ala)
c.5074A>G (p.Thr1692Ala)
c.3985A>G (p.Thr1329Ala)
c.5083A>G (p.Thr1695Ala)
n.965A>G
 gnomAD v4
11g.70473309T>GCA381676368SHANK2c.3343A>C (p.Thr1115Pro)
c.888A>C (n.888A>C)
c.5110A>C (p.Thr1704Pro)
c.2619A>C
c.3973A>C (p.Thr1325Pro)
c.3400A>C (p.Thr1134Pro)
c.3346A>C (p.Thr1116Pro)
c.*114A>C (n.*114A>C)
c.3322A>C (p.Thr1108Pro)
c.886A>C
c.2947A>C (p.Thr983Pro)
n.1862A>C
n.964A>C
c.5080A>C (p.Thr1694Pro)
c.5122A>C (p.Thr1708Pro)
c.5101A>C (p.Thr1701Pro)
c.5095A>C (p.Thr1699Pro)
c.5074A>C (p.Thr1692Pro)
c.3985A>C (p.Thr1329Pro)
c.5083A>C (p.Thr1695Pro)
n.965A>C
11g.70473310T>ACA475470739SHANK2c.3342A>T (p.Gly1114=)
c.887A>T (n.887A>T)
c.5109A>T (p.Gly1703=)
c.2618A>T
c.3972A>T (p.Gly1324=)
c.3399A>T (p.Gly1133=)
c.3345A>T (p.Gly1115=)
c.*113A>T (n.*113A>T)
c.3321A>T (p.Gly1107=)
c.885A>T
c.2946A>T (p.Gly982=)
n.1861A>T
n.963A>T
c.5079A>T (p.Gly1693=)
c.5121A>T (p.Gly1707=)
c.5100A>T (p.Gly1700=)
c.5094A>T (p.Gly1698=)
c.5073A>T (p.Gly1691=)
c.3984A>T (p.Gly1328=)
c.5082A>T (p.Gly1694=)
n.964A>T
11g.70473310T>CCA475470740SHANK2c.3342A>G (p.Gly1114=)
c.887A>G (n.887A>G)
c.5109A>G (p.Gly1703=)
c.2618A>G
c.3972A>G (p.Gly1324=)
c.3399A>G (p.Gly1133=)
c.3345A>G (p.Gly1115=)
c.*113A>G (n.*113A>G)
c.3321A>G (p.Gly1107=)
c.885A>G
c.2946A>G (p.Gly982=)
n.1861A>G
n.963A>G
c.5079A>G (p.Gly1693=)
c.5121A>G (p.Gly1707=)
c.5100A>G (p.Gly1700=)
c.5094A>G (p.Gly1698=)
c.5073A>G (p.Gly1691=)
c.3984A>G (p.Gly1328=)
c.5082A>G (p.Gly1694=)
n.964A>G
11g.70473310T>GCA475470741SHANK2c.3342A>C (p.Gly1114=)
c.887A>C (n.887A>C)
c.5109A>C (p.Gly1703=)
c.2618A>C
c.3972A>C (p.Gly1324=)
c.3399A>C (p.Gly1133=)
c.3345A>C (p.Gly1115=)
c.*113A>C (n.*113A>C)
c.3321A>C (p.Gly1107=)
c.885A>C
c.2946A>C (p.Gly982=)
n.1861A>C
n.963A>C
c.5079A>C (p.Gly1693=)
c.5121A>C (p.Gly1707=)
c.5100A>C (p.Gly1700=)
c.5094A>C (p.Gly1698=)
c.5073A>C (p.Gly1691=)
c.3984A>C (p.Gly1328=)
c.5082A>C (p.Gly1694=)
n.964A>C
11g.70473311C>ACA381676371SHANK2c.3341G>T (p.Gly1114Val)
c.886G>T (n.886G>T)
c.5108G>T (p.Gly1703Val)
c.2617G>T
c.3971G>T (p.Gly1324Val)
c.3398G>T (p.Gly1133Val)
c.3344G>T (p.Gly1115Val)
c.*112G>T (n.*112G>T)
c.3320G>T (p.Gly1107Val)
c.884G>T
c.2945G>T (p.Gly982Val)
n.1860G>T
n.962G>T
c.5078G>T (p.Gly1693Val)
c.5120G>T (p.Gly1707Val)
c.5099G>T (p.Gly1700Val)
c.5093G>T (p.Gly1698Val)
c.5072G>T (p.Gly1691Val)
c.3983G>T (p.Gly1328Val)
c.5081G>T (p.Gly1694Val)
n.963G>T
11g.70473311C>GCA381676373SHANK2c.3341G>C (p.Gly1114Ala)
c.886G>C (n.886G>C)
c.5108G>C (p.Gly1703Ala)
c.2617G>C
c.3971G>C (p.Gly1324Ala)
c.3398G>C (p.Gly1133Ala)
c.3344G>C (p.Gly1115Ala)
c.*112G>C (n.*112G>C)
c.3320G>C (p.Gly1107Ala)
c.884G>C
c.2945G>C (p.Gly982Ala)
n.1860G>C
n.962G>C
c.5078G>C (p.Gly1693Ala)
c.5120G>C (p.Gly1707Ala)
c.5099G>C (p.Gly1700Ala)
c.5093G>C (p.Gly1698Ala)
c.5072G>C (p.Gly1691Ala)
c.3983G>C (p.Gly1328Ala)
c.5081G>C (p.Gly1694Ala)
n.963G>C
 gnomAD v4
11g.70473311C>TCA381676372SHANK2c.3341G>A (p.Gly1114Glu)
c.886G>A (n.886G>A)
c.5108G>A (p.Gly1703Glu)
c.2617G>A
c.3971G>A (p.Gly1324Glu)
c.3398G>A (p.Gly1133Glu)
c.3344G>A (p.Gly1115Glu)
c.*112G>A (n.*112G>A)
c.3320G>A (p.Gly1107Glu)
c.884G>A
c.2945G>A (p.Gly982Glu)
n.1860G>A
n.962G>A
c.5078G>A (p.Gly1693Glu)
c.5120G>A (p.Gly1707Glu)
c.5099G>A (p.Gly1700Glu)
c.5093G>A (p.Gly1698Glu)
c.5072G>A (p.Gly1691Glu)
c.3983G>A (p.Gly1328Glu)
c.5081G>A (p.Gly1694Glu)
n.963G>A
11g.70473312C>ACA381676374SHANK2c.3340G>T (p.Gly1114Ter)
c.885G>T (n.885G>T)
c.5107G>T (p.Gly1703Ter)
c.2616G>T
c.3970G>T (p.Gly1324Ter)
c.3397G>T (p.Gly1133Ter)
c.3343G>T (p.Gly1115Ter)
c.*111G>T (n.*111G>T)
c.3319G>T (p.Gly1107Ter)
c.883G>T
c.2944G>T (p.Gly982Ter)
n.1859G>T
n.961G>T
c.5077G>T (p.Gly1693Ter)
c.5119G>T (p.Gly1707Ter)
c.5098G>T (p.Gly1700Ter)
c.5092G>T (p.Gly1698Ter)
c.5071G>T (p.Gly1691Ter)
c.3982G>T (p.Gly1328Ter)
c.5080G>T (p.Gly1694Ter)
n.962G>T
11g.70473312C>GCA381676376SHANK2c.3340G>C (p.Gly1114Arg)
c.885G>C (n.885G>C)
c.5107G>C (p.Gly1703Arg)
c.2616G>C
c.3970G>C (p.Gly1324Arg)
c.3397G>C (p.Gly1133Arg)
c.3343G>C (p.Gly1115Arg)
c.*111G>C (n.*111G>C)
c.3319G>C (p.Gly1107Arg)
c.883G>C
c.2944G>C (p.Gly982Arg)
n.1859G>C
n.961G>C
c.5077G>C (p.Gly1693Arg)
c.5119G>C (p.Gly1707Arg)
c.5098G>C (p.Gly1700Arg)
c.5092G>C (p.Gly1698Arg)
c.5071G>C (p.Gly1691Arg)
c.3982G>C (p.Gly1328Arg)
c.5080G>C (p.Gly1694Arg)
n.962G>C
11g.70473312C>TCA381676375SHANK2c.3340G>A (p.Gly1114Arg)
c.885G>A (n.885G>A)
c.5107G>A (p.Gly1703Arg)
c.2616G>A
c.3970G>A (p.Gly1324Arg)
c.3397G>A (p.Gly1133Arg)
c.3343G>A (p.Gly1115Arg)
c.*111G>A (n.*111G>A)
c.3319G>A (p.Gly1107Arg)
c.883G>A
c.2944G>A (p.Gly982Arg)
n.1859G>A
n.961G>A
c.5077G>A (p.Gly1693Arg)
c.5119G>A (p.Gly1707Arg)
c.5098G>A (p.Gly1700Arg)
c.5092G>A (p.Gly1698Arg)
c.5071G>A (p.Gly1691Arg)
c.3982G>A (p.Gly1328Arg)
c.5080G>A (p.Gly1694Arg)
n.962G>A
11g.70473313T>ACA475470742SHANK2c.3339A>T (p.Ser1113=)
c.884A>T (n.884A>T)
c.5106A>T (p.Ser1702=)
c.2615A>T
c.3969A>T (p.Ser1323=)
c.3396A>T (p.Ser1132=)
c.3342A>T (p.Ser1114=)
c.*110A>T (n.*110A>T)
c.3318A>T (p.Ser1106=)
c.882A>T
c.2943A>T (p.Ser981=)
n.1858A>T
n.960A>T
c.5076A>T (p.Ser1692=)
c.5118A>T (p.Ser1706=)
c.5097A>T (p.Ser1699=)
c.5091A>T (p.Ser1697=)
c.5070A>T (p.Ser1690=)
c.3981A>T (p.Ser1327=)
c.5079A>T (p.Ser1693=)
n.961A>T
11g.70473313T>CCA475470744SHANK2c.3339A>G (p.Ser1113=)
c.884A>G (n.884A>G)
c.5106A>G (p.Ser1702=)
c.2615A>G
c.3969A>G (p.Ser1323=)
c.3396A>G (p.Ser1132=)
c.3342A>G (p.Ser1114=)
c.*110A>G (n.*110A>G)
c.3318A>G (p.Ser1106=)
c.882A>G
c.2943A>G (p.Ser981=)
n.1858A>G
n.960A>G
c.5076A>G (p.Ser1692=)
c.5118A>G (p.Ser1706=)
c.5097A>G (p.Ser1699=)
c.5091A>G (p.Ser1697=)
c.5070A>G (p.Ser1690=)
c.3981A>G (p.Ser1327=)
c.5079A>G (p.Ser1693=)
n.961A>G
11g.70473313T>GCA475470743SHANK2c.3339A>C (p.Ser1113=)
c.884A>C (n.884A>C)
c.5106A>C (p.Ser1702=)
c.2615A>C
c.3969A>C (p.Ser1323=)
c.3396A>C (p.Ser1132=)
c.3342A>C (p.Ser1114=)
c.*110A>C (n.*110A>C)
c.3318A>C (p.Ser1106=)
c.882A>C
c.2943A>C (p.Ser981=)
n.1858A>C
n.960A>C
c.5076A>C (p.Ser1692=)
c.5118A>C (p.Ser1706=)
c.5097A>C (p.Ser1699=)
c.5091A>C (p.Ser1697=)
c.5070A>C (p.Ser1690=)
c.3981A>C (p.Ser1327=)
c.5079A>C (p.Ser1693=)
n.961A>C
11g.70473314G>ACA381676377SHANK2c.3338C>T (p.Ser1113Leu)
c.883C>T (n.883C>T)
c.5105C>T (p.Ser1702Leu)
c.2614C>T
c.3968C>T (p.Ser1323Leu)
c.3395C>T (p.Ser1132Leu)
c.3341C>T (p.Ser1114Leu)
c.*109C>T (n.*109C>T)
c.3317C>T (p.Ser1106Leu)
c.881C>T
c.2942C>T (p.Ser981Leu)
n.1857C>T
n.959C>T
c.5075C>T (p.Ser1692Leu)
c.5117C>T (p.Ser1706Leu)
c.5096C>T (p.Ser1699Leu)
c.5090C>T (p.Ser1697Leu)
c.5069C>T (p.Ser1690Leu)
c.3980C>T (p.Ser1327Leu)
c.5078C>T (p.Ser1693Leu)
n.960C>T
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
11g.70473314G>CCA381676379SHANK2c.3338C>G (p.Ser1113Ter)
c.883C>G (n.883C>G)
c.5105C>G (p.Ser1702Ter)
c.2614C>G
c.3968C>G (p.Ser1323Ter)
c.3395C>G (p.Ser1132Ter)
c.3341C>G (p.Ser1114Ter)
c.*109C>G (n.*109C>G)
c.3317C>G (p.Ser1106Ter)
c.881C>G
c.2942C>G (p.Ser981Ter)
n.1857C>G
n.959C>G
c.5075C>G (p.Ser1692Ter)
c.5117C>G (p.Ser1706Ter)
c.5096C>G (p.Ser1699Ter)
c.5090C>G (p.Ser1697Ter)
c.5069C>G (p.Ser1690Ter)
c.3980C>G (p.Ser1327Ter)
c.5078C>G (p.Ser1693Ter)
n.960C>G
11g.70473314G=CA1981067994SHANK2c.3338C= (p.Ser1113=)
c.883C= (n.883C=)
c.5105C= (p.Ser1702=)
c.2614C=
c.3968C= (p.Ser1323=)
c.3395C= (p.Ser1132=)
c.3341C= (p.Ser1114=)
c.*109C= (n.*109C=)
c.3317C= (p.Ser1106=)
c.881C=
c.2942C= (p.Ser981=)
n.1857C=
n.959C=
c.5075C= (p.Ser1692=)
c.5117C= (p.Ser1706=)
c.5096C= (p.Ser1699=)
c.5090C= (p.Ser1697=)
c.5069C= (p.Ser1690=)
c.3980C= (p.Ser1327=)
c.5078C= (p.Ser1693=)
n.960C=
11g.70473314G>TCA381676378SHANK2c.3338C>A (p.Ser1113Ter)
c.883C>A (n.883C>A)
c.5105C>A (p.Ser1702Ter)
c.2614C>A
c.3968C>A (p.Ser1323Ter)
c.3395C>A (p.Ser1132Ter)
c.3341C>A (p.Ser1114Ter)
c.*109C>A (n.*109C>A)
c.3317C>A (p.Ser1106Ter)
c.881C>A
c.2942C>A (p.Ser981Ter)
n.1857C>A
n.959C>A
c.5075C>A (p.Ser1692Ter)
c.5117C>A (p.Ser1706Ter)
c.5096C>A (p.Ser1699Ter)
c.5090C>A (p.Ser1697Ter)
c.5069C>A (p.Ser1690Ter)
c.3980C>A (p.Ser1327Ter)
c.5078C>A (p.Ser1693Ter)
n.960C>A
11g.70473315A=CA1981067995SHANK2c.3337T= (p.Ser1113=)
c.882T= (n.882T=)
c.5104T= (p.Ser1702=)
c.2613T=
c.3967T= (p.Ser1323=)
c.3394T= (p.Ser1132=)
c.3340T= (p.Ser1114=)
c.*108T= (n.*108T=)
c.3316T= (p.Ser1106=)
c.880T=
c.2941T= (p.Ser981=)
n.1856T=
n.958T=
c.5074T= (p.Ser1692=)
c.5116T= (p.Ser1706=)
c.5095T= (p.Ser1699=)
c.5089T= (p.Ser1697=)
c.5068T= (p.Ser1690=)
c.3979T= (p.Ser1327=)
c.5077T= (p.Ser1693=)
n.959T=
11g.70473315A>CCA381676380SHANK2c.3337T>G (p.Ser1113Ala)
c.882T>G (n.882T>G)
c.5104T>G (p.Ser1702Ala)
c.2613T>G
c.3967T>G (p.Ser1323Ala)
c.3394T>G (p.Ser1132Ala)
c.3340T>G (p.Ser1114Ala)
c.*108T>G (n.*108T>G)
c.3316T>G (p.Ser1106Ala)
c.880T>G
c.2941T>G (p.Ser981Ala)
n.1856T>G
n.958T>G
c.5074T>G (p.Ser1692Ala)
c.5116T>G (p.Ser1706Ala)
c.5095T>G (p.Ser1699Ala)
c.5089T>G (p.Ser1697Ala)
c.5068T>G (p.Ser1690Ala)
c.3979T>G (p.Ser1327Ala)
c.5077T>G (p.Ser1693Ala)
n.959T>G
11g.70473315A>GCA381676381SHANK2c.3337T>C (p.Ser1113Pro)
c.882T>C (n.882T>C)
c.5104T>C (p.Ser1702Pro)
c.2613T>C
c.3967T>C (p.Ser1323Pro)
c.3394T>C (p.Ser1132Pro)
c.3340T>C (p.Ser1114Pro)
c.*108T>C (n.*108T>C)
c.3316T>C (p.Ser1106Pro)
c.880T>C
c.2941T>C (p.Ser981Pro)
n.1856T>C
n.958T>C
c.5074T>C (p.Ser1692Pro)
c.5116T>C (p.Ser1706Pro)
c.5095T>C (p.Ser1699Pro)
c.5089T>C (p.Ser1697Pro)
c.5068T>C (p.Ser1690Pro)
c.3979T>C (p.Ser1327Pro)
c.5077T>C (p.Ser1693Pro)
n.959T>C
11g.70473315A>TCA6160769SHANK2c.3337T>A (p.Ser1113Thr)
c.882T>A (n.882T>A)
c.5104T>A (p.Ser1702Thr)
c.2613T>A
c.3967T>A (p.Ser1323Thr)
c.3394T>A (p.Ser1132Thr)
c.3340T>A (p.Ser1114Thr)
c.*108T>A (n.*108T>A)
c.3316T>A (p.Ser1106Thr)
c.880T>A
c.2941T>A (p.Ser981Thr)
n.1856T>A
n.958T>A
c.5074T>A (p.Ser1692Thr)
c.5116T>A (p.Ser1706Thr)
c.5095T>A (p.Ser1699Thr)
c.5089T>A (p.Ser1697Thr)
c.5068T>A (p.Ser1690Thr)
c.3979T>A (p.Ser1327Thr)
c.5077T>A (p.Ser1693Thr)
n.959T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473316G>ACA6160770SHANK2c.3336C>T (p.Thr1112=)
c.881C>T (n.881C>T)
c.5103C>T (p.Thr1701=)
c.2612C>T
c.3966C>T (p.Thr1322=)
c.3393C>T (p.Thr1131=)
c.3339C>T (p.Thr1113=)
c.*107C>T (n.*107C>T)
c.3315C>T (p.Thr1105=)
c.879C>T
c.2940C>T (p.Thr980=)
n.1855C>T
n.957C>T
c.5073C>T (p.Thr1691=)
c.5115C>T (p.Thr1705=)
c.5094C>T (p.Thr1698=)
c.5088C>T (p.Thr1696=)
c.5067C>T (p.Thr1689=)
c.3978C>T (p.Thr1326=)
c.5076C>T (p.Thr1692=)
n.958C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70473316G>CCA475470745SHANK2c.3336C>G (p.Thr1112=)
c.881C>G (n.881C>G)
c.5103C>G (p.Thr1701=)
c.2612C>G
c.3966C>G (p.Thr1322=)
c.3393C>G (p.Thr1131=)
c.3339C>G (p.Thr1113=)
c.*107C>G (n.*107C>G)
c.3315C>G (p.Thr1105=)
c.879C>G
c.2940C>G (p.Thr980=)
n.1855C>G
n.957C>G
c.5073C>G (p.Thr1691=)
c.5115C>G (p.Thr1705=)
c.5094C>G (p.Thr1698=)
c.5088C>G (p.Thr1696=)
c.5067C>G (p.Thr1689=)
c.3978C>G (p.Thr1326=)
c.5076C>G (p.Thr1692=)
n.958C>G
11g.70473316G=CA1981067996SHANK2c.3336C= (p.Thr1112=)
c.881C= (n.881C=)
c.5103C= (p.Thr1701=)
c.2612C=
c.3966C= (p.Thr1322=)
c.3393C= (p.Thr1131=)
c.3339C= (p.Thr1113=)
c.*107C= (n.*107C=)
c.3315C= (p.Thr1105=)
c.879C=
c.2940C= (p.Thr980=)
n.1855C=
n.957C=
c.5073C= (p.Thr1691=)
c.5115C= (p.Thr1705=)
c.5094C= (p.Thr1698=)
c.5088C= (p.Thr1696=)
c.5067C= (p.Thr1689=)
c.3978C= (p.Thr1326=)
c.5076C= (p.Thr1692=)
n.958C=
11g.70473316G>TCA475470746SHANK2c.3336C>A (p.Thr1112=)
c.881C>A (n.881C>A)
c.5103C>A (p.Thr1701=)
c.2612C>A
c.3966C>A (p.Thr1322=)
c.3393C>A (p.Thr1131=)
c.3339C>A (p.Thr1113=)
c.*107C>A (n.*107C>A)
c.3315C>A (p.Thr1105=)
c.879C>A
c.2940C>A (p.Thr980=)
n.1855C>A
n.957C>A
c.5073C>A (p.Thr1691=)
c.5115C>A (p.Thr1705=)
c.5094C>A (p.Thr1698=)
c.5088C>A (p.Thr1696=)
c.5067C>A (p.Thr1689=)
c.3978C>A (p.Thr1326=)
c.5076C>A (p.Thr1692=)
n.958C>A
11g.70473317G>ACA6160771SHANK2c.3335C>T (p.Thr1112Ile)
c.880C>T (n.880C>T)
c.5102C>T (p.Thr1701Ile)
c.2611C>T
c.3965C>T (p.Thr1322Ile)
c.3392C>T (p.Thr1131Ile)
c.3338C>T (p.Thr1113Ile)
c.*106C>T (n.*106C>T)
c.3314C>T (p.Thr1105Ile)
c.878C>T
c.2939C>T (p.Thr980Ile)
n.1854C>T
n.956C>T
c.5072C>T (p.Thr1691Ile)
c.5114C>T (p.Thr1705Ile)
c.5093C>T (p.Thr1698Ile)
c.5087C>T (p.Thr1696Ile)
c.5066C>T (p.Thr1689Ile)
c.3977C>T (p.Thr1326Ile)
c.5075C>T (p.Thr1692Ile)
n.957C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70473317G>CCA381676382SHANK2c.3335C>G (p.Thr1112Ser)
c.880C>G (n.880C>G)
c.5102C>G (p.Thr1701Ser)
c.2611C>G
c.3965C>G (p.Thr1322Ser)
c.3392C>G (p.Thr1131Ser)
c.3338C>G (p.Thr1113Ser)
c.*106C>G (n.*106C>G)
c.3314C>G (p.Thr1105Ser)
c.878C>G
c.2939C>G (p.Thr980Ser)
n.1854C>G
n.956C>G
c.5072C>G (p.Thr1691Ser)
c.5114C>G (p.Thr1705Ser)
c.5093C>G (p.Thr1698Ser)
c.5087C>G (p.Thr1696Ser)
c.5066C>G (p.Thr1689Ser)
c.3977C>G (p.Thr1326Ser)
c.5075C>G (p.Thr1692Ser)
n.957C>G
11g.70473317G=CA1981067997SHANK2c.3335C= (p.Thr1112=)
c.880C= (n.880C=)
c.5102C= (p.Thr1701=)
c.2611C=
c.3965C= (p.Thr1322=)
c.3392C= (p.Thr1131=)
c.3338C= (p.Thr1113=)
c.*106C= (n.*106C=)
c.3314C= (p.Thr1105=)
c.878C=
c.2939C= (p.Thr980=)
n.1854C=
n.956C=
c.5072C= (p.Thr1691=)
c.5114C= (p.Thr1705=)
c.5093C= (p.Thr1698=)
c.5087C= (p.Thr1696=)
c.5066C= (p.Thr1689=)
c.3977C= (p.Thr1326=)
c.5075C= (p.Thr1692=)
n.957C=
11g.70473317G>TCA381676383SHANK2c.3335C>A (p.Thr1112Asn)
c.880C>A (n.880C>A)
c.5102C>A (p.Thr1701Asn)
c.2611C>A
c.3965C>A (p.Thr1322Asn)
c.3392C>A (p.Thr1131Asn)
c.3338C>A (p.Thr1113Asn)
c.*106C>A (n.*106C>A)
c.3314C>A (p.Thr1105Asn)
c.878C>A
c.2939C>A (p.Thr980Asn)
n.1854C>A
n.956C>A
c.5072C>A (p.Thr1691Asn)
c.5114C>A (p.Thr1705Asn)
c.5093C>A (p.Thr1698Asn)
c.5087C>A (p.Thr1696Asn)
c.5066C>A (p.Thr1689Asn)
c.3977C>A (p.Thr1326Asn)
c.5075C>A (p.Thr1692Asn)
n.957C>A
11g.70473318T>ACA381676384SHANK2c.3334A>T (p.Thr1112Ser)
c.879A>T (n.879A>T)
c.5101A>T (p.Thr1701Ser)
c.2610A>T
c.3964A>T (p.Thr1322Ser)
c.3391A>T (p.Thr1131Ser)
c.3337A>T (p.Thr1113Ser)
c.*105A>T (n.*105A>T)
c.3313A>T (p.Thr1105Ser)
c.877A>T
c.2938A>T (p.Thr980Ser)
n.1853A>T
n.955A>T
c.5071A>T (p.Thr1691Ser)
c.5113A>T (p.Thr1705Ser)
c.5092A>T (p.Thr1698Ser)
c.5086A>T (p.Thr1696Ser)
c.5065A>T (p.Thr1689Ser)
c.3976A>T (p.Thr1326Ser)
c.5074A>T (p.Thr1692Ser)
n.956A>T
11g.70473318T>CCA381676385SHANK2c.3334A>G (p.Thr1112Ala)
c.879A>G (n.879A>G)
c.5101A>G (p.Thr1701Ala)
c.2610A>G
c.3964A>G (p.Thr1322Ala)
c.3391A>G (p.Thr1131Ala)
c.3337A>G (p.Thr1113Ala)
c.*105A>G (n.*105A>G)
c.3313A>G (p.Thr1105Ala)
c.877A>G
c.2938A>G (p.Thr980Ala)
n.1853A>G
n.955A>G
c.5071A>G (p.Thr1691Ala)
c.5113A>G (p.Thr1705Ala)
c.5092A>G (p.Thr1698Ala)
c.5086A>G (p.Thr1696Ala)
c.5065A>G (p.Thr1689Ala)
c.3976A>G (p.Thr1326Ala)
c.5074A>G (p.Thr1692Ala)
n.956A>G
11g.70473318T>GCA381676386SHANK2c.3334A>C (p.Thr1112Pro)
c.879A>C (n.879A>C)
c.5101A>C (p.Thr1701Pro)
c.2610A>C
c.3964A>C (p.Thr1322Pro)
c.3391A>C (p.Thr1131Pro)
c.3337A>C (p.Thr1113Pro)
c.*105A>C (n.*105A>C)
c.3313A>C (p.Thr1105Pro)
c.877A>C
c.2938A>C (p.Thr980Pro)
n.1853A>C
n.955A>C
c.5071A>C (p.Thr1691Pro)
c.5113A>C (p.Thr1705Pro)
c.5092A>C (p.Thr1698Pro)
c.5086A>C (p.Thr1696Pro)
c.5065A>C (p.Thr1689Pro)
c.3976A>C (p.Thr1326Pro)
c.5074A>C (p.Thr1692Pro)
n.956A>C
11g.70473319C>ACA381676387SHANK2c.3333G>T (p.Arg1111Ser)
c.878G>T (n.878G>T)
c.5100G>T (p.Arg1700Ser)
c.2609G>T
c.3963G>T (p.Arg1321Ser)
c.3390G>T (p.Arg1130Ser)
c.3336G>T (p.Arg1112Ser)
c.*104G>T (n.*104G>T)
c.3312G>T (p.Arg1104Ser)
c.876G>T
c.2937G>T (p.Arg979Ser)
n.1852G>T
n.954G>T
c.5070G>T (p.Arg1690Ser)
c.5112G>T (p.Arg1704Ser)
c.5091G>T (p.Arg1697Ser)
c.5085G>T (p.Arg1695Ser)
c.5064G>T (p.Arg1688Ser)
c.3975G>T (p.Arg1325Ser)
c.5073G>T (p.Arg1691Ser)
n.955G>T
11g.70473319C=CA1981067998SHANK2c.3333G= (p.Arg1111=)
c.878G= (n.878G=)
c.5100G= (p.Arg1700=)
c.2609G=
c.3963G= (p.Arg1321=)
c.3390G= (p.Arg1130=)
c.3336G= (p.Arg1112=)
c.*104G= (n.*104G=)
c.3312G= (p.Arg1104=)
c.876G=
c.2937G= (p.Arg979=)
n.1852G=
n.954G=
c.5070G= (p.Arg1690=)
c.5112G= (p.Arg1704=)
c.5091G= (p.Arg1697=)
c.5085G= (p.Arg1695=)
c.5064G= (p.Arg1688=)
c.3975G= (p.Arg1325=)
c.5073G= (p.Arg1691=)
n.955G=
11g.70473319C>GCA381676388SHANK2c.3333G>C (p.Arg1111Ser)
c.878G>C (n.878G>C)
c.5100G>C (p.Arg1700Ser)
c.2609G>C
c.3963G>C (p.Arg1321Ser)
c.3390G>C (p.Arg1130Ser)
c.3336G>C (p.Arg1112Ser)
c.*104G>C (n.*104G>C)
c.3312G>C (p.Arg1104Ser)
c.876G>C
c.2937G>C (p.Arg979Ser)
n.1852G>C
n.954G>C
c.5070G>C (p.Arg1690Ser)
c.5112G>C (p.Arg1704Ser)
c.5091G>C (p.Arg1697Ser)
c.5085G>C (p.Arg1695Ser)
c.5064G>C (p.Arg1688Ser)
c.3975G>C (p.Arg1325Ser)
c.5073G>C (p.Arg1691Ser)
n.955G>C
11g.70473319C>TCA475470747SHANK2c.3333G>A (p.Arg1111=)
c.878G>A (n.878G>A)
c.5100G>A (p.Arg1700=)
c.2609G>A
c.3963G>A (p.Arg1321=)
c.3390G>A (p.Arg1130=)
c.3336G>A (p.Arg1112=)
c.*104G>A (n.*104G>A)
c.3312G>A (p.Arg1104=)
c.876G>A
c.2937G>A (p.Arg979=)
n.1852G>A
n.954G>A
c.5070G>A (p.Arg1690=)
c.5112G>A (p.Arg1704=)
c.5091G>A (p.Arg1697=)
c.5085G>A (p.Arg1695=)
c.5064G>A (p.Arg1688=)
c.3975G>A (p.Arg1325=)
c.5073G>A (p.Arg1691=)
n.955G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70473320C>ACA381676389SHANK2c.3332G>T (p.Arg1111Met)
c.877G>T (n.877G>T)
c.5099G>T (p.Arg1700Met)
c.2608G>T
c.3962G>T (p.Arg1321Met)
c.3389G>T (p.Arg1130Met)
c.3335G>T (p.Arg1112Met)
c.*103G>T (n.*103G>T)
c.3311G>T (p.Arg1104Met)
c.875G>T
c.2936G>T (p.Arg979Met)
n.1851G>T
n.953G>T
c.5069G>T (p.Arg1690Met)
c.5111G>T (p.Arg1704Met)
c.5090G>T (p.Arg1697Met)
c.5084G>T (p.Arg1695Met)
c.5063G>T (p.Arg1688Met)
c.3974G>T (p.Arg1325Met)
c.5072G>T (p.Arg1691Met)
n.954G>T
11g.70473320C>GCA381676390SHANK2c.3332G>C (p.Arg1111Thr)
c.877G>C (n.877G>C)
c.5099G>C (p.Arg1700Thr)
c.2608G>C
c.3962G>C (p.Arg1321Thr)
c.3389G>C (p.Arg1130Thr)
c.3335G>C (p.Arg1112Thr)
c.*103G>C (n.*103G>C)
c.3311G>C (p.Arg1104Thr)
c.875G>C
c.2936G>C (p.Arg979Thr)
n.1851G>C
n.953G>C
c.5069G>C (p.Arg1690Thr)
c.5111G>C (p.Arg1704Thr)
c.5090G>C (p.Arg1697Thr)
c.5084G>C (p.Arg1695Thr)
c.5063G>C (p.Arg1688Thr)
c.3974G>C (p.Arg1325Thr)
c.5072G>C (p.Arg1691Thr)
n.954G>C
11g.70473320C>TCA381676391SHANK2c.3332G>A (p.Arg1111Lys)
c.877G>A (n.877G>A)
c.5099G>A (p.Arg1700Lys)
c.2608G>A
c.3962G>A (p.Arg1321Lys)
c.3389G>A (p.Arg1130Lys)
c.3335G>A (p.Arg1112Lys)
c.*103G>A (n.*103G>A)
c.3311G>A (p.Arg1104Lys)
c.875G>A
c.2936G>A (p.Arg979Lys)
n.1851G>A
n.953G>A
c.5069G>A (p.Arg1690Lys)
c.5111G>A (p.Arg1704Lys)
c.5090G>A (p.Arg1697Lys)
c.5084G>A (p.Arg1695Lys)
c.5063G>A (p.Arg1688Lys)
c.3974G>A (p.Arg1325Lys)
c.5072G>A (p.Arg1691Lys)
n.954G>A
11g.70473321T>ACA381676392SHANK2c.3331A>T (p.Arg1111Trp)
c.876A>T (n.876A>T)
c.5098A>T (p.Arg1700Trp)
c.2607A>T
c.3961A>T (p.Arg1321Trp)
c.3388A>T (p.Arg1130Trp)
c.3334A>T (p.Arg1112Trp)
c.*102A>T (n.*102A>T)
c.3310A>T (p.Arg1104Trp)
c.874A>T
c.2935A>T (p.Arg979Trp)
n.1850A>T
n.952A>T
c.5068A>T (p.Arg1690Trp)
c.5110A>T (p.Arg1704Trp)
c.5089A>T (p.Arg1697Trp)
c.5083A>T (p.Arg1695Trp)
c.5062A>T (p.Arg1688Trp)
c.3973A>T (p.Arg1325Trp)
c.5071A>T (p.Arg1691Trp)
n.953A>T
11g.70473321T>CCA381676393SHANK2c.3331A>G (p.Arg1111Gly)
c.876A>G (n.876A>G)
c.5098A>G (p.Arg1700Gly)
c.2607A>G
c.3961A>G (p.Arg1321Gly)
c.3388A>G (p.Arg1130Gly)
c.3334A>G (p.Arg1112Gly)
c.*102A>G (n.*102A>G)
c.3310A>G (p.Arg1104Gly)
c.874A>G
c.2935A>G (p.Arg979Gly)
n.1850A>G
n.952A>G
c.5068A>G (p.Arg1690Gly)
c.5110A>G (p.Arg1704Gly)
c.5089A>G (p.Arg1697Gly)
c.5083A>G (p.Arg1695Gly)
c.5062A>G (p.Arg1688Gly)
c.3973A>G (p.Arg1325Gly)
c.5071A>G (p.Arg1691Gly)
n.953A>G
 dbSNP gnomAD v3 gnomAD v4
11g.70473321T>GCA475470748SHANK2c.3331A>C (p.Arg1111=)
c.876A>C (n.876A>C)
c.5098A>C (p.Arg1700=)
c.2607A>C
c.3961A>C (p.Arg1321=)
c.3388A>C (p.Arg1130=)
c.3334A>C (p.Arg1112=)
c.*102A>C (n.*102A>C)
c.3310A>C (p.Arg1104=)
c.874A>C
c.2935A>C (p.Arg979=)
n.1850A>C
n.952A>C
c.5068A>C (p.Arg1690=)
c.5110A>C (p.Arg1704=)
c.5089A>C (p.Arg1697=)
c.5083A>C (p.Arg1695=)
c.5062A>C (p.Arg1688=)
c.3973A>C (p.Arg1325=)
c.5071A>C (p.Arg1691=)
n.953A>C
 gnomAD v4
11g.70473321T=CA1981067999SHANK2c.3331A= (p.Arg1111=)
c.876A= (n.876A=)
c.5098A= (p.Arg1700=)
c.2607A=
c.3961A= (p.Arg1321=)
c.3388A= (p.Arg1130=)
c.3334A= (p.Arg1112=)
c.*102A= (n.*102A=)
c.3310A= (p.Arg1104=)
c.874A=
c.2935A= (p.Arg979=)
n.1850A=
n.952A=
c.5068A= (p.Arg1690=)
c.5110A= (p.Arg1704=)
c.5089A= (p.Arg1697=)
c.5083A= (p.Arg1695=)
c.5062A= (p.Arg1688=)
c.3973A= (p.Arg1325=)
c.5071A= (p.Arg1691=)
n.953A=
11g.70473322G>ACA475470749SHANK2c.3330C>T (p.Ser1110=)
c.875C>T (n.875C>T)
c.5097C>T (p.Ser1699=)
c.2606C>T
c.3960C>T (p.Ser1320=)
c.3387C>T (p.Ser1129=)
c.3333C>T (p.Ser1111=)
c.*101C>T (n.*101C>T)
c.3309C>T (p.Ser1103=)
c.873C>T
c.2934C>T (p.Ser978=)
n.1849C>T
n.951C>T
c.5067C>T (p.Ser1689=)
c.5109C>T (p.Ser1703=)
c.5088C>T (p.Ser1696=)
c.5082C>T (p.Ser1694=)
c.5061C>T (p.Ser1687=)
c.3972C>T (p.Ser1324=)
c.5070C>T (p.Ser1690=)
n.952C>T
11g.70473322G>CCA381676394SHANK2c.3330C>G (p.Ser1110Arg)
c.875C>G (n.875C>G)
c.5097C>G (p.Ser1699Arg)
c.2606C>G
c.3960C>G (p.Ser1320Arg)
c.3387C>G (p.Ser1129Arg)
c.3333C>G (p.Ser1111Arg)
c.*101C>G (n.*101C>G)
c.3309C>G (p.Ser1103Arg)
c.873C>G
c.2934C>G (p.Ser978Arg)
n.1849C>G
n.951C>G
c.5067C>G (p.Ser1689Arg)
c.5109C>G (p.Ser1703Arg)
c.5088C>G (p.Ser1696Arg)
c.5082C>G (p.Ser1694Arg)
c.5061C>G (p.Ser1687Arg)
c.3972C>G (p.Ser1324Arg)
c.5070C>G (p.Ser1690Arg)
n.952C>G
11g.70473322G>TCA381676395SHANK2c.3330C>A (p.Ser1110Arg)
c.875C>A (n.875C>A)
c.5097C>A (p.Ser1699Arg)
c.2606C>A
c.3960C>A (p.Ser1320Arg)
c.3387C>A (p.Ser1129Arg)
c.3333C>A (p.Ser1111Arg)
c.*101C>A (n.*101C>A)
c.3309C>A (p.Ser1103Arg)
c.873C>A
c.2934C>A (p.Ser978Arg)
n.1849C>A
n.951C>A
c.5067C>A (p.Ser1689Arg)
c.5109C>A (p.Ser1703Arg)
c.5088C>A (p.Ser1696Arg)
c.5082C>A (p.Ser1694Arg)
c.5061C>A (p.Ser1687Arg)
c.3972C>A (p.Ser1324Arg)
c.5070C>A (p.Ser1690Arg)
n.952C>A
11g.70473323C>ACA381676396SHANK2c.3329G>T (p.Ser1110Ile)
c.874G>T (n.874G>T)
c.5096G>T (p.Ser1699Ile)
c.2605G>T
c.3959G>T (p.Ser1320Ile)
c.3386G>T (p.Ser1129Ile)
c.3332G>T (p.Ser1111Ile)
c.*100G>T (n.*100G>T)
c.3308G>T (p.Ser1103Ile)
c.872G>T
c.2933G>T (p.Ser978Ile)
n.1848G>T
n.950G>T
c.5066G>T (p.Ser1689Ile)
c.5108G>T (p.Ser1703Ile)
c.5087G>T (p.Ser1696Ile)
c.5081G>T (p.Ser1694Ile)
c.5060G>T (p.Ser1687Ile)
c.3971G>T (p.Ser1324Ile)
c.5069G>T (p.Ser1690Ile)
n.951G>T
 gnomAD v4
11g.70473323C=CA1981068000SHANK2c.3329G= (p.Ser1110=)
c.874G= (n.874G=)
c.5096G= (p.Ser1699=)
c.2605G=
c.3959G= (p.Ser1320=)
c.3386G= (p.Ser1129=)
c.3332G= (p.Ser1111=)
c.*100G= (n.*100G=)
c.3308G= (p.Ser1103=)
c.872G=
c.2933G= (p.Ser978=)
n.1848G=
n.950G=
c.5066G= (p.Ser1689=)
c.5108G= (p.Ser1703=)
c.5087G= (p.Ser1696=)
c.5081G= (p.Ser1694=)
c.5060G= (p.Ser1687=)
c.3971G= (p.Ser1324=)
c.5069G= (p.Ser1690=)
n.951G=
11g.70473323C>GCA381676397SHANK2c.3329G>C (p.Ser1110Thr)
c.874G>C (n.874G>C)
c.5096G>C (p.Ser1699Thr)
c.2605G>C
c.3959G>C (p.Ser1320Thr)
c.3386G>C (p.Ser1129Thr)
c.3332G>C (p.Ser1111Thr)
c.*100G>C (n.*100G>C)
c.3308G>C (p.Ser1103Thr)
c.872G>C
c.2933G>C (p.Ser978Thr)
n.1848G>C
n.950G>C
c.5066G>C (p.Ser1689Thr)
c.5108G>C (p.Ser1703Thr)
c.5087G>C (p.Ser1696Thr)
c.5081G>C (p.Ser1694Thr)
c.5060G>C (p.Ser1687Thr)
c.3971G>C (p.Ser1324Thr)
c.5069G>C (p.Ser1690Thr)
n.951G>C
11g.70473323C>TCA381676398SHANK2c.3329G>A (p.Ser1110Asn)
c.874G>A (n.874G>A)
c.5096G>A (p.Ser1699Asn)
c.2605G>A
c.3959G>A (p.Ser1320Asn)
c.3386G>A (p.Ser1129Asn)
c.3332G>A (p.Ser1111Asn)
c.*100G>A (n.*100G>A)
c.3308G>A (p.Ser1103Asn)
c.872G>A
c.2933G>A (p.Ser978Asn)
n.1848G>A
n.950G>A
c.5066G>A (p.Ser1689Asn)
c.5108G>A (p.Ser1703Asn)
c.5087G>A (p.Ser1696Asn)
c.5081G>A (p.Ser1694Asn)
c.5060G>A (p.Ser1687Asn)
c.3971G>A (p.Ser1324Asn)
c.5069G>A (p.Ser1690Asn)
n.951G>A
 dbSNP gnomAD v4
11g.70473324T>ACA381676399SHANK2c.3328A>T (p.Ser1110Cys)
c.873A>T (n.873A>T)
c.5095A>T (p.Ser1699Cys)
c.2604A>T
c.3958A>T (p.Ser1320Cys)
c.3385A>T (p.Ser1129Cys)
c.3331A>T (p.Ser1111Cys)
c.*99A>T (n.*99A>T)
c.3307A>T (p.Ser1103Cys)
c.871A>T
c.2932A>T (p.Ser978Cys)
n.1847A>T
n.949A>T
c.5065A>T (p.Ser1689Cys)
c.5107A>T (p.Ser1703Cys)
c.5086A>T (p.Ser1696Cys)
c.5080A>T (p.Ser1694Cys)
c.5059A>T (p.Ser1687Cys)
c.3970A>T (p.Ser1324Cys)
c.5068A>T (p.Ser1690Cys)
n.950A>T
11g.70473324T>CCA381676400SHANK2c.3328A>G (p.Ser1110Gly)
c.873A>G (n.873A>G)
c.5095A>G (p.Ser1699Gly)
c.2604A>G
c.3958A>G (p.Ser1320Gly)
c.3385A>G (p.Ser1129Gly)
c.3331A>G (p.Ser1111Gly)
c.*99A>G (n.*99A>G)
c.3307A>G (p.Ser1103Gly)
c.871A>G
c.2932A>G (p.Ser978Gly)
n.1847A>G
n.949A>G
c.5065A>G (p.Ser1689Gly)
c.5107A>G (p.Ser1703Gly)
c.5086A>G (p.Ser1696Gly)
c.5080A>G (p.Ser1694Gly)
c.5059A>G (p.Ser1687Gly)
c.3970A>G (p.Ser1324Gly)
c.5068A>G (p.Ser1690Gly)
n.950A>G
 dbSNP gnomAD v2 gnomAD v4
11g.70473324T>GCA381676401SHANK2c.3328A>C (p.Ser1110Arg)
c.873A>C (n.873A>C)
c.5095A>C (p.Ser1699Arg)
c.2604A>C
c.3958A>C (p.Ser1320Arg)
c.3385A>C (p.Ser1129Arg)
c.3331A>C (p.Ser1111Arg)
c.*99A>C (n.*99A>C)
c.3307A>C (p.Ser1103Arg)
c.871A>C
c.2932A>C (p.Ser978Arg)
n.1847A>C
n.949A>C
c.5065A>C (p.Ser1689Arg)
c.5107A>C (p.Ser1703Arg)
c.5086A>C (p.Ser1696Arg)
c.5080A>C (p.Ser1694Arg)
c.5059A>C (p.Ser1687Arg)
c.3970A>C (p.Ser1324Arg)
c.5068A>C (p.Ser1690Arg)
n.950A>C
11g.70473324T=CA1981068001SHANK2c.3328A= (p.Ser1110=)
c.873A= (n.873A=)
c.5095A= (p.Ser1699=)
c.2604A=
c.3958A= (p.Ser1320=)
c.3385A= (p.Ser1129=)
c.3331A= (p.Ser1111=)
c.*99A= (n.*99A=)
c.3307A= (p.Ser1103=)
c.871A=
c.2932A= (p.Ser978=)
n.1847A=
n.949A=
c.5065A= (p.Ser1689=)
c.5107A= (p.Ser1703=)
c.5086A= (p.Ser1696=)
c.5080A= (p.Ser1694=)
c.5059A= (p.Ser1687=)
c.3970A= (p.Ser1324=)
c.5068A= (p.Ser1690=)
n.950A=
11g.70473325T>ACA381676402SHANK2c.3327A>T (p.Glu1109Asp)
c.872A>T (n.872A>T)
c.5094A>T (p.Glu1698Asp)
c.2603A>T
c.3957A>T (p.Glu1319Asp)
c.3384A>T (p.Glu1128Asp)
c.3330A>T (p.Glu1110Asp)
c.*98A>T (n.*98A>T)
c.3306A>T (p.Glu1102Asp)
c.870A>T
c.2931A>T (p.Glu977Asp)
n.1846A>T
n.948A>T
c.5064A>T (p.Glu1688Asp)
c.5106A>T (p.Glu1702Asp)
c.5085A>T (p.Glu1695Asp)
c.5079A>T (p.Glu1693Asp)
c.5058A>T (p.Glu1686Asp)
c.3969A>T (p.Glu1323Asp)
c.5067A>T (p.Glu1689Asp)
n.949A>T
11g.70473325T>CCA475470750SHANK2c.3327A>G (p.Glu1109=)
c.872A>G (n.872A>G)
c.5094A>G (p.Glu1698=)
c.2603A>G
c.3957A>G (p.Glu1319=)
c.3384A>G (p.Glu1128=)
c.3330A>G (p.Glu1110=)
c.*98A>G (n.*98A>G)
c.3306A>G (p.Glu1102=)
c.870A>G
c.2931A>G (p.Glu977=)
n.1846A>G
n.948A>G
c.5064A>G (p.Glu1688=)
c.5106A>G (p.Glu1702=)
c.5085A>G (p.Glu1695=)
c.5079A>G (p.Glu1693=)
c.5058A>G (p.Glu1686=)
c.3969A>G (p.Glu1323=)
c.5067A>G (p.Glu1689=)
n.949A>G
11g.70473325T>GCA381676403SHANK2c.3327A>C (p.Glu1109Asp)
c.872A>C (n.872A>C)
c.5094A>C (p.Glu1698Asp)
c.2603A>C
c.3957A>C (p.Glu1319Asp)
c.3384A>C (p.Glu1128Asp)
c.3330A>C (p.Glu1110Asp)
c.*98A>C (n.*98A>C)
c.3306A>C (p.Glu1102Asp)
c.870A>C
c.2931A>C (p.Glu977Asp)
n.1846A>C
n.948A>C
c.5064A>C (p.Glu1688Asp)
c.5106A>C (p.Glu1702Asp)
c.5085A>C (p.Glu1695Asp)
c.5079A>C (p.Glu1693Asp)
c.5058A>C (p.Glu1686Asp)
c.3969A>C (p.Glu1323Asp)
c.5067A>C (p.Glu1689Asp)
n.949A>C
11g.70473326T>ACA381676404SHANK2c.3326A>T (p.Glu1109Val)
c.871A>T (n.871A>T)
c.5093A>T (p.Glu1698Val)
c.2602A>T
c.3956A>T (p.Glu1319Val)
c.3383A>T (p.Glu1128Val)
c.3329A>T (p.Glu1110Val)
c.*97A>T (n.*97A>T)
c.3305A>T (p.Glu1102Val)
c.869A>T
c.2930A>T (p.Glu977Val)
n.1845A>T
n.947A>T
c.5063A>T (p.Glu1688Val)
c.5105A>T (p.Glu1702Val)
c.5084A>T (p.Glu1695Val)
c.5078A>T (p.Glu1693Val)
c.5057A>T (p.Glu1686Val)
c.3968A>T (p.Glu1323Val)
c.5066A>T (p.Glu1689Val)
n.948A>T
11g.70473326T>CCA381676405SHANK2c.3326A>G (p.Glu1109Gly)
c.871A>G (n.871A>G)
c.5093A>G (p.Glu1698Gly)
c.2602A>G
c.3956A>G (p.Glu1319Gly)
c.3383A>G (p.Glu1128Gly)
c.3329A>G (p.Glu1110Gly)
c.*97A>G (n.*97A>G)
c.3305A>G (p.Glu1102Gly)
c.869A>G
c.2930A>G (p.Glu977Gly)
n.1845A>G
n.947A>G
c.5063A>G (p.Glu1688Gly)
c.5105A>G (p.Glu1702Gly)
c.5084A>G (p.Glu1695Gly)
c.5078A>G (p.Glu1693Gly)
c.5057A>G (p.Glu1686Gly)
c.3968A>G (p.Glu1323Gly)
c.5066A>G (p.Glu1689Gly)
n.948A>G
 gnomAD v4
11g.70473326T>GCA381676406SHANK2c.3326A>C (p.Glu1109Ala)
c.871A>C (n.871A>C)
c.5093A>C (p.Glu1698Ala)
c.2602A>C
c.3956A>C (p.Glu1319Ala)
c.3383A>C (p.Glu1128Ala)
c.3329A>C (p.Glu1110Ala)
c.*97A>C (n.*97A>C)
c.3305A>C (p.Glu1102Ala)
c.869A>C
c.2930A>C (p.Glu977Ala)
n.1845A>C
n.947A>C
c.5063A>C (p.Glu1688Ala)
c.5105A>C (p.Glu1702Ala)
c.5084A>C (p.Glu1695Ala)
c.5078A>C (p.Glu1693Ala)
c.5057A>C (p.Glu1686Ala)
c.3968A>C (p.Glu1323Ala)
c.5066A>C (p.Glu1689Ala)
n.948A>C
11g.70473327C>ACA381676407SHANK2c.3325G>T (p.Glu1109Ter)
c.870G>T (n.870G>T)
c.5092G>T (p.Glu1698Ter)
c.2601G>T
c.3955G>T (p.Glu1319Ter)
c.3382G>T (p.Glu1128Ter)
c.3328G>T (p.Glu1110Ter)
c.*96G>T (n.*96G>T)
c.3304G>T (p.Glu1102Ter)
c.868G>T
c.2929G>T (p.Glu977Ter)
n.1844G>T
n.946G>T
c.5062G>T (p.Glu1688Ter)
c.5104G>T (p.Glu1702Ter)
c.5083G>T (p.Glu1695Ter)
c.5077G>T (p.Glu1693Ter)
c.5056G>T (p.Glu1686Ter)
c.3967G>T (p.Glu1323Ter)
c.5065G>T (p.Glu1689Ter)
n.947G>T
11g.70473327C>GCA381676409SHANK2c.3325G>C (p.Glu1109Gln)
c.870G>C (n.870G>C)
c.5092G>C (p.Glu1698Gln)
c.2601G>C
c.3955G>C (p.Glu1319Gln)
c.3382G>C (p.Glu1128Gln)
c.3328G>C (p.Glu1110Gln)
c.*96G>C (n.*96G>C)
c.3304G>C (p.Glu1102Gln)
c.868G>C
c.2929G>C (p.Glu977Gln)
n.1844G>C
n.946G>C
c.5062G>C (p.Glu1688Gln)
c.5104G>C (p.Glu1702Gln)
c.5083G>C (p.Glu1695Gln)
c.5077G>C (p.Glu1693Gln)
c.5056G>C (p.Glu1686Gln)
c.3967G>C (p.Glu1323Gln)
c.5065G>C (p.Glu1689Gln)
n.947G>C
11g.70473327C>TCA381676408SHANK2c.3325G>A (p.Glu1109Lys)
c.870G>A (n.870G>A)
c.5092G>A (p.Glu1698Lys)
c.2601G>A
c.3955G>A (p.Glu1319Lys)
c.3382G>A (p.Glu1128Lys)
c.3328G>A (p.Glu1110Lys)
c.*96G>A (n.*96G>A)
c.3304G>A (p.Glu1102Lys)
c.868G>A
c.2929G>A (p.Glu977Lys)
n.1844G>A
n.946G>A
c.5062G>A (p.Glu1688Lys)
c.5104G>A (p.Glu1702Lys)
c.5083G>A (p.Glu1695Lys)
c.5077G>A (p.Glu1693Lys)
c.5056G>A (p.Glu1686Lys)
c.3967G>A (p.Glu1323Lys)
c.5065G>A (p.Glu1689Lys)
n.947G>A

Number of alleles fetched