Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.70473226G>A | CA475470640 | SHANK2 | c.3426C>T (p.Ala1142=) c.971C>T (n.971C>T) c.5193C>T (p.Ala1731=) c.2702C>T c.4056C>T (p.Ala1352=) c.3483C>T (p.Ala1161=) c.3429C>T (p.Ala1143=) c.*197C>T (n.*197C>T) c.3405C>T (p.Ala1135=) c.969C>T c.3030C>T (p.Ala1010=) n.1945C>T n.1047C>T c.5163C>T (p.Ala1721=) c.5205C>T (p.Ala1735=) c.5184C>T (p.Ala1728=) c.5178C>T (p.Ala1726=) c.5157C>T (p.Ala1719=) c.4068C>T (p.Ala1356=) c.5166C>T (p.Ala1722=) n.1048C>T | gnomAD v4 |
11 | g.70473226G>C | CA475470637 | SHANK2 | c.3426C>G (p.Ala1142=) c.971C>G (n.971C>G) c.5193C>G (p.Ala1731=) c.2702C>G c.4056C>G (p.Ala1352=) c.3483C>G (p.Ala1161=) c.3429C>G (p.Ala1143=) c.*197C>G (n.*197C>G) c.3405C>G (p.Ala1135=) c.969C>G c.3030C>G (p.Ala1010=) n.1945C>G n.1047C>G c.5163C>G (p.Ala1721=) c.5205C>G (p.Ala1735=) c.5184C>G (p.Ala1728=) c.5178C>G (p.Ala1726=) c.5157C>G (p.Ala1719=) c.4068C>G (p.Ala1356=) c.5166C>G (p.Ala1722=) n.1048C>G | dbSNP |
11 | g.70473226G= | CA1981067955 | SHANK2 | c.3426C= (p.Ala1142=) c.971C= (n.971C=) c.5193C= (p.Ala1731=) c.2702C= c.4056C= (p.Ala1352=) c.3483C= (p.Ala1161=) c.3429C= (p.Ala1143=) c.*197C= (n.*197C=) c.3405C= (p.Ala1135=) c.969C= c.3030C= (p.Ala1010=) n.1945C= n.1047C= c.5163C= (p.Ala1721=) c.5205C= (p.Ala1735=) c.5184C= (p.Ala1728=) c.5178C= (p.Ala1726=) c.5157C= (p.Ala1719=) c.4068C= (p.Ala1356=) c.5166C= (p.Ala1722=) n.1048C= | |
11 | g.70473226G>T | CA475470638 | SHANK2 | c.3426C>A (p.Ala1142=) c.971C>A (n.971C>A) c.5193C>A (p.Ala1731=) c.2702C>A c.4056C>A (p.Ala1352=) c.3483C>A (p.Ala1161=) c.3429C>A (p.Ala1143=) c.*197C>A (n.*197C>A) c.3405C>A (p.Ala1135=) c.969C>A c.3030C>A (p.Ala1010=) n.1945C>A n.1047C>A c.5163C>A (p.Ala1721=) c.5205C>A (p.Ala1735=) c.5184C>A (p.Ala1728=) c.5178C>A (p.Ala1726=) c.5157C>A (p.Ala1719=) c.4068C>A (p.Ala1356=) c.5166C>A (p.Ala1722=) n.1048C>A | |
11 | g.70473227G>A | CA381676208 | SHANK2 | c.3425C>T (p.Ala1142Val) c.970C>T (n.970C>T) c.5192C>T (p.Ala1731Val) c.2701C>T c.4055C>T (p.Ala1352Val) c.3482C>T (p.Ala1161Val) c.3428C>T (p.Ala1143Val) c.*196C>T (n.*196C>T) c.3404C>T (p.Ala1135Val) c.968C>T c.3029C>T (p.Ala1010Val) n.1944C>T n.1046C>T c.5162C>T (p.Ala1721Val) c.5204C>T (p.Ala1735Val) c.5183C>T (p.Ala1728Val) c.5177C>T (p.Ala1726Val) c.5156C>T (p.Ala1719Val) c.4067C>T (p.Ala1356Val) c.5165C>T (p.Ala1722Val) n.1047C>T | |
11 | g.70473227G>C | CA381676209 | SHANK2 | c.3425C>G (p.Ala1142Gly) c.970C>G (n.970C>G) c.5192C>G (p.Ala1731Gly) c.2701C>G c.4055C>G (p.Ala1352Gly) c.3482C>G (p.Ala1161Gly) c.3428C>G (p.Ala1143Gly) c.*196C>G (n.*196C>G) c.3404C>G (p.Ala1135Gly) c.968C>G c.3029C>G (p.Ala1010Gly) n.1944C>G n.1046C>G c.5162C>G (p.Ala1721Gly) c.5204C>G (p.Ala1735Gly) c.5183C>G (p.Ala1728Gly) c.5177C>G (p.Ala1726Gly) c.5156C>G (p.Ala1719Gly) c.4067C>G (p.Ala1356Gly) c.5165C>G (p.Ala1722Gly) n.1047C>G | |
11 | g.70473227G>T | CA381676210 | SHANK2 | c.3425C>A (p.Ala1142Asp) c.970C>A (n.970C>A) c.5192C>A (p.Ala1731Asp) c.2701C>A c.4055C>A (p.Ala1352Asp) c.3482C>A (p.Ala1161Asp) c.3428C>A (p.Ala1143Asp) c.*196C>A (n.*196C>A) c.3404C>A (p.Ala1135Asp) c.968C>A c.3029C>A (p.Ala1010Asp) n.1944C>A n.1046C>A c.5162C>A (p.Ala1721Asp) c.5204C>A (p.Ala1735Asp) c.5183C>A (p.Ala1728Asp) c.5177C>A (p.Ala1726Asp) c.5156C>A (p.Ala1719Asp) c.4067C>A (p.Ala1356Asp) c.5165C>A (p.Ala1722Asp) n.1047C>A | |
11 | g.70473228C>A | CA381676211 | SHANK2 | c.3424G>T (p.Ala1142Ser) c.969G>T (n.969G>T) c.5191G>T (p.Ala1731Ser) c.2700G>T c.4054G>T (p.Ala1352Ser) c.3481G>T (p.Ala1161Ser) c.3427G>T (p.Ala1143Ser) c.*195G>T (n.*195G>T) c.3403G>T (p.Ala1135Ser) c.967G>T c.3028G>T (p.Ala1010Ser) n.1943G>T n.1045G>T c.5161G>T (p.Ala1721Ser) c.5203G>T (p.Ala1735Ser) c.5182G>T (p.Ala1728Ser) c.5176G>T (p.Ala1726Ser) c.5155G>T (p.Ala1719Ser) c.4066G>T (p.Ala1356Ser) c.5164G>T (p.Ala1722Ser) n.1046G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.70473228C= | CA1981067956 | SHANK2 | c.3424G= (p.Ala1142=) c.969G= (n.969G=) c.5191G= (p.Ala1731=) c.2700G= c.4054G= (p.Ala1352=) c.3481G= (p.Ala1161=) c.3427G= (p.Ala1143=) c.*195G= (n.*195G=) c.3403G= (p.Ala1135=) c.967G= c.3028G= (p.Ala1010=) n.1943G= n.1045G= c.5161G= (p.Ala1721=) c.5203G= (p.Ala1735=) c.5182G= (p.Ala1728=) c.5176G= (p.Ala1726=) c.5155G= (p.Ala1719=) c.4066G= (p.Ala1356=) c.5164G= (p.Ala1722=) n.1046G= | |
11 | g.70473228C>G | CA381676212 | SHANK2 | c.3424G>C (p.Ala1142Pro) c.969G>C (n.969G>C) c.5191G>C (p.Ala1731Pro) c.2700G>C c.4054G>C (p.Ala1352Pro) c.3481G>C (p.Ala1161Pro) c.3427G>C (p.Ala1143Pro) c.*195G>C (n.*195G>C) c.3403G>C (p.Ala1135Pro) c.967G>C c.3028G>C (p.Ala1010Pro) n.1943G>C n.1045G>C c.5161G>C (p.Ala1721Pro) c.5203G>C (p.Ala1735Pro) c.5182G>C (p.Ala1728Pro) c.5176G>C (p.Ala1726Pro) c.5155G>C (p.Ala1719Pro) c.4066G>C (p.Ala1356Pro) c.5164G>C (p.Ala1722Pro) n.1046G>C | |
11 | g.70473228C>T | CA223591804 | SHANK2 | c.3424G>A (p.Ala1142Thr) c.969G>A (n.969G>A) c.5191G>A (p.Ala1731Thr) c.2700G>A c.4054G>A (p.Ala1352Thr) c.3481G>A (p.Ala1161Thr) c.3427G>A (p.Ala1143Thr) c.*195G>A (n.*195G>A) c.3403G>A (p.Ala1135Thr) c.967G>A c.3028G>A (p.Ala1010Thr) n.1943G>A n.1045G>A c.5161G>A (p.Ala1721Thr) c.5203G>A (p.Ala1735Thr) c.5182G>A (p.Ala1728Thr) c.5176G>A (p.Ala1726Thr) c.5155G>A (p.Ala1719Thr) c.4066G>A (p.Ala1356Thr) c.5164G>A (p.Ala1722Thr) n.1046G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473229G>A | CA6160749 | SHANK2 | c.3423C>T (p.Thr1141=) c.968C>T (n.968C>T) c.5190C>T (p.Thr1730=) c.2699C>T c.4053C>T (p.Thr1351=) c.3480C>T (p.Thr1160=) c.3426C>T (p.Thr1142=) c.*194C>T (n.*194C>T) c.3402C>T (p.Thr1134=) c.966C>T c.3027C>T (p.Thr1009=) n.1942C>T n.1044C>T c.5160C>T (p.Thr1720=) c.5202C>T (p.Thr1734=) c.5181C>T (p.Thr1727=) c.5175C>T (p.Thr1725=) c.5154C>T (p.Thr1718=) c.4065C>T (p.Thr1355=) c.5163C>T (p.Thr1721=) n.1045C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.70473229G>C | CA475470642 | SHANK2 | c.3423C>G (p.Thr1141=) c.968C>G (n.968C>G) c.5190C>G (p.Thr1730=) c.2699C>G c.4053C>G (p.Thr1351=) c.3480C>G (p.Thr1160=) c.3426C>G (p.Thr1142=) c.*194C>G (n.*194C>G) c.3402C>G (p.Thr1134=) c.966C>G c.3027C>G (p.Thr1009=) n.1942C>G n.1044C>G c.5160C>G (p.Thr1720=) c.5202C>G (p.Thr1734=) c.5181C>G (p.Thr1727=) c.5175C>G (p.Thr1725=) c.5154C>G (p.Thr1718=) c.4065C>G (p.Thr1355=) c.5163C>G (p.Thr1721=) n.1045C>G | gnomAD v4 |
11 | g.70473229G= | CA1981067957 | SHANK2 | c.3423C= (p.Thr1141=) c.968C= (n.968C=) c.5190C= (p.Thr1730=) c.2699C= c.4053C= (p.Thr1351=) c.3480C= (p.Thr1160=) c.3426C= (p.Thr1142=) c.*194C= (n.*194C=) c.3402C= (p.Thr1134=) c.966C= c.3027C= (p.Thr1009=) n.1942C= n.1044C= c.5160C= (p.Thr1720=) c.5202C= (p.Thr1734=) c.5181C= (p.Thr1727=) c.5175C= (p.Thr1725=) c.5154C= (p.Thr1718=) c.4065C= (p.Thr1355=) c.5163C= (p.Thr1721=) n.1045C= | |
11 | g.70473229G>T | CA475470643 | SHANK2 | c.3423C>A (p.Thr1141=) c.968C>A (n.968C>A) c.5190C>A (p.Thr1730=) c.2699C>A c.4053C>A (p.Thr1351=) c.3480C>A (p.Thr1160=) c.3426C>A (p.Thr1142=) c.*194C>A (n.*194C>A) c.3402C>A (p.Thr1134=) c.966C>A c.3027C>A (p.Thr1009=) n.1942C>A n.1044C>A c.5160C>A (p.Thr1720=) c.5202C>A (p.Thr1734=) c.5181C>A (p.Thr1727=) c.5175C>A (p.Thr1725=) c.5154C>A (p.Thr1718=) c.4065C>A (p.Thr1355=) c.5163C>A (p.Thr1721=) n.1045C>A | |
11 | g.70473230G>A | CA381676215 | SHANK2 | c.3422C>T (p.Thr1141Ile) c.967C>T (n.967C>T) c.5189C>T (p.Thr1730Ile) c.2698C>T c.4052C>T (p.Thr1351Ile) c.3479C>T (p.Thr1160Ile) c.3425C>T (p.Thr1142Ile) c.*193C>T (n.*193C>T) c.3401C>T (p.Thr1134Ile) c.965C>T c.3026C>T (p.Thr1009Ile) n.1941C>T n.1043C>T c.5159C>T (p.Thr1720Ile) c.5201C>T (p.Thr1734Ile) c.5180C>T (p.Thr1727Ile) c.5174C>T (p.Thr1725Ile) c.5153C>T (p.Thr1718Ile) c.4064C>T (p.Thr1355Ile) c.5162C>T (p.Thr1721Ile) n.1044C>T | |
11 | g.70473230G>C | CA381676214 | SHANK2 | c.3422C>G (p.Thr1141Ser) c.967C>G (n.967C>G) c.5189C>G (p.Thr1730Ser) c.2698C>G c.4052C>G (p.Thr1351Ser) c.3479C>G (p.Thr1160Ser) c.3425C>G (p.Thr1142Ser) c.*193C>G (n.*193C>G) c.3401C>G (p.Thr1134Ser) c.965C>G c.3026C>G (p.Thr1009Ser) n.1941C>G n.1043C>G c.5159C>G (p.Thr1720Ser) c.5201C>G (p.Thr1734Ser) c.5180C>G (p.Thr1727Ser) c.5174C>G (p.Thr1725Ser) c.5153C>G (p.Thr1718Ser) c.4064C>G (p.Thr1355Ser) c.5162C>G (p.Thr1721Ser) n.1044C>G | |
11 | g.70473230G>T | CA381676213 | SHANK2 | c.3422C>A (p.Thr1141Asn) c.967C>A (n.967C>A) c.5189C>A (p.Thr1730Asn) c.2698C>A c.4052C>A (p.Thr1351Asn) c.3479C>A (p.Thr1160Asn) c.3425C>A (p.Thr1142Asn) c.*193C>A (n.*193C>A) c.3401C>A (p.Thr1134Asn) c.965C>A c.3026C>A (p.Thr1009Asn) n.1941C>A n.1043C>A c.5159C>A (p.Thr1720Asn) c.5201C>A (p.Thr1734Asn) c.5180C>A (p.Thr1727Asn) c.5174C>A (p.Thr1725Asn) c.5153C>A (p.Thr1718Asn) c.4064C>A (p.Thr1355Asn) c.5162C>A (p.Thr1721Asn) n.1044C>A | |
11 | g.70473230_70473242delinsGTGGCAGCAGACA | CA1981067958 | SHANK2 | c.3410_3422delinsTGTCTGCTGCCAC (p.Leu1137=) c.955_967delinsTGTCTGCTGCCAC (n.955_967delinsTGTCTGCTGCCAC) c.5177_5189delinsTGTCTGCTGCCAC (p.Leu1726=) c.2686_2698delinsTGTCTGCTGCCAC c.4040_4052delinsTGTCTGCTGCCAC (p.Leu1347=) c.3467_3479delinsTGTCTGCTGCCAC (p.Leu1156=) c.3413_3425delinsTGTCTGCTGCCAC (p.Leu1138=) c.*181_*193delinsTGTCTGCTGCCAC (n.*181_*193delinsTGTCTGCTGCCAC) c.3389_3401delinsTGTCTGCTGCCAC (p.Leu1130=) c.953_965delinsTGTCTGCTGCCAC c.3014_3026delinsTGTCTGCTGCCAC (p.Leu1005=) n.1929_1941delinsTGTCTGCTGCCAC n.1031_1043delinsTGTCTGCTGCCAC c.5147_5159delinsTGTCTGCTGCCAC (p.Leu1716=) c.5189_5201delinsTGTCTGCTGCCAC (p.Leu1730=) c.5168_5180delinsTGTCTGCTGCCAC (p.Leu1723=) c.5162_5174delinsTGTCTGCTGCCAC (p.Leu1721=) c.5141_5153delinsTGTCTGCTGCCAC (p.Leu1714=) c.4052_4064delinsTGTCTGCTGCCAC (p.Leu1351=) c.5150_5162delinsTGTCTGCTGCCAC (p.Leu1717=) n.1032_1044delinsTGTCTGCTGCCAC | |
11 | g.70473231T>A | CA381676216 | SHANK2 | c.3421A>T (p.Thr1141Ser) c.966A>T (n.966A>T) c.5188A>T (p.Thr1730Ser) c.2697A>T c.4051A>T (p.Thr1351Ser) c.3478A>T (p.Thr1160Ser) c.3424A>T (p.Thr1142Ser) c.*192A>T (n.*192A>T) c.3400A>T (p.Thr1134Ser) c.964A>T c.3025A>T (p.Thr1009Ser) n.1940A>T n.1042A>T c.5158A>T (p.Thr1720Ser) c.5200A>T (p.Thr1734Ser) c.5179A>T (p.Thr1727Ser) c.5173A>T (p.Thr1725Ser) c.5152A>T (p.Thr1718Ser) c.4063A>T (p.Thr1355Ser) c.5161A>T (p.Thr1721Ser) n.1043A>T | |
11 | g.70473231T>C | CA381676217 | SHANK2 | c.3421A>G (p.Thr1141Ala) c.966A>G (n.966A>G) c.5188A>G (p.Thr1730Ala) c.2697A>G c.4051A>G (p.Thr1351Ala) c.3478A>G (p.Thr1160Ala) c.3424A>G (p.Thr1142Ala) c.*192A>G (n.*192A>G) c.3400A>G (p.Thr1134Ala) c.964A>G c.3025A>G (p.Thr1009Ala) n.1940A>G n.1042A>G c.5158A>G (p.Thr1720Ala) c.5200A>G (p.Thr1734Ala) c.5179A>G (p.Thr1727Ala) c.5173A>G (p.Thr1725Ala) c.5152A>G (p.Thr1718Ala) c.4063A>G (p.Thr1355Ala) c.5161A>G (p.Thr1721Ala) n.1043A>G | |
11 | g.70473231T>G | CA381676218 | SHANK2 | c.3421A>C (p.Thr1141Pro) c.966A>C (n.966A>C) c.5188A>C (p.Thr1730Pro) c.2697A>C c.4051A>C (p.Thr1351Pro) c.3478A>C (p.Thr1160Pro) c.3424A>C (p.Thr1142Pro) c.*192A>C (n.*192A>C) c.3400A>C (p.Thr1134Pro) c.964A>C c.3025A>C (p.Thr1009Pro) n.1940A>C n.1042A>C c.5158A>C (p.Thr1720Pro) c.5200A>C (p.Thr1734Pro) c.5179A>C (p.Thr1727Pro) c.5173A>C (p.Thr1725Pro) c.5152A>C (p.Thr1718Pro) c.4063A>C (p.Thr1355Pro) c.5161A>C (p.Thr1721Pro) n.1043A>C | |
11 | g.70473231_70473242del | CA223591809 | SHANK2 | c.3410_3421del (p.Leu1137_Thr1141delinsPro) c.955_966del (n.955_966del) c.5177_5188del (p.Leu1726_Thr1730delinsPro) c.2686_2697del c.4040_4051del (p.Leu1347_Thr1351delinsPro) c.3467_3478del (p.Leu1156_Thr1160delinsPro) c.3413_3424del (p.Leu1138_Thr1142delinsPro) c.*181_*192del (n.*181_*192del) c.3389_3400del (p.Leu1130_Thr1134delinsPro) c.953_964del c.3014_3025del (p.Leu1005_Thr1009delinsPro) n.1929_1940del n.1031_1042del c.5147_5158del (p.Leu1716_Thr1720delinsPro) c.5189_5200del (p.Leu1730_Thr1734delinsPro) c.5168_5179del (p.Leu1723_Thr1727delinsPro) c.5162_5173del (p.Leu1721_Thr1725delinsPro) c.5141_5152del (p.Leu1714_Thr1718delinsPro) c.4052_4063del (p.Leu1351_Thr1355delinsPro) c.5150_5161del (p.Leu1717_Thr1721delinsPro) n.1032_1043del | dbSNP |
11 | g.70473232G>A | CA475470648 | SHANK2 | c.3420C>T (p.Ala1140=) c.965C>T (n.965C>T) c.5187C>T (p.Ala1729=) c.2696C>T c.4050C>T (p.Ala1350=) c.3477C>T (p.Ala1159=) c.3423C>T (p.Ala1141=) c.*191C>T (n.*191C>T) c.3399C>T (p.Ala1133=) c.963C>T c.3024C>T (p.Ala1008=) n.1939C>T n.1041C>T c.5157C>T (p.Ala1719=) c.5199C>T (p.Ala1733=) c.5178C>T (p.Ala1726=) c.5172C>T (p.Ala1724=) c.5151C>T (p.Ala1717=) c.4062C>T (p.Ala1354=) c.5160C>T (p.Ala1720=) n.1042C>T | dbSNP COSMIC COSMIC COSMIC |
11 | g.70473232G>C | CA475470649 | SHANK2 | c.3420C>G (p.Ala1140=) c.965C>G (n.965C>G) c.5187C>G (p.Ala1729=) c.2696C>G c.4050C>G (p.Ala1350=) c.3477C>G (p.Ala1159=) c.3423C>G (p.Ala1141=) c.*191C>G (n.*191C>G) c.3399C>G (p.Ala1133=) c.963C>G c.3024C>G (p.Ala1008=) n.1939C>G n.1041C>G c.5157C>G (p.Ala1719=) c.5199C>G (p.Ala1733=) c.5178C>G (p.Ala1726=) c.5172C>G (p.Ala1724=) c.5151C>G (p.Ala1717=) c.4062C>G (p.Ala1354=) c.5160C>G (p.Ala1720=) n.1042C>G | |
11 | g.70473232G>T | CA475470650 | SHANK2 | c.3420C>A (p.Ala1140=) c.965C>A (n.965C>A) c.5187C>A (p.Ala1729=) c.2696C>A c.4050C>A (p.Ala1350=) c.3477C>A (p.Ala1159=) c.3423C>A (p.Ala1141=) c.*191C>A (n.*191C>A) c.3399C>A (p.Ala1133=) c.963C>A c.3024C>A (p.Ala1008=) n.1939C>A n.1041C>A c.5157C>A (p.Ala1719=) c.5199C>A (p.Ala1733=) c.5178C>A (p.Ala1726=) c.5172C>A (p.Ala1724=) c.5151C>A (p.Ala1717=) c.4062C>A (p.Ala1354=) c.5160C>A (p.Ala1720=) n.1042C>A | |
11 | g.70473233G>A | CA381676219 | SHANK2 | c.3419C>T (p.Ala1140Val) c.964C>T (n.964C>T) c.5186C>T (p.Ala1729Val) c.2695C>T c.4049C>T (p.Ala1350Val) c.3476C>T (p.Ala1159Val) c.3422C>T (p.Ala1141Val) c.*190C>T (n.*190C>T) c.3398C>T (p.Ala1133Val) c.962C>T c.3023C>T (p.Ala1008Val) n.1938C>T n.1040C>T c.5156C>T (p.Ala1719Val) c.5198C>T (p.Ala1733Val) c.5177C>T (p.Ala1726Val) c.5171C>T (p.Ala1724Val) c.5150C>T (p.Ala1717Val) c.4061C>T (p.Ala1354Val) c.5159C>T (p.Ala1720Val) n.1041C>T | dbSNP |
11 | g.70473233G>C | CA381676220 | SHANK2 | c.3419C>G (p.Ala1140Gly) c.964C>G (n.964C>G) c.5186C>G (p.Ala1729Gly) c.2695C>G c.4049C>G (p.Ala1350Gly) c.3476C>G (p.Ala1159Gly) c.3422C>G (p.Ala1141Gly) c.*190C>G (n.*190C>G) c.3398C>G (p.Ala1133Gly) c.962C>G c.3023C>G (p.Ala1008Gly) n.1938C>G n.1040C>G c.5156C>G (p.Ala1719Gly) c.5198C>G (p.Ala1733Gly) c.5177C>G (p.Ala1726Gly) c.5171C>G (p.Ala1724Gly) c.5150C>G (p.Ala1717Gly) c.4061C>G (p.Ala1354Gly) c.5159C>G (p.Ala1720Gly) n.1041C>G | |
11 | g.70473233G= | CA1981067960 | SHANK2 | c.3419C= (p.Ala1140=) c.964C= (n.964C=) c.5186C= (p.Ala1729=) c.2695C= c.4049C= (p.Ala1350=) c.3476C= (p.Ala1159=) c.3422C= (p.Ala1141=) c.*190C= (n.*190C=) c.3398C= (p.Ala1133=) c.962C= c.3023C= (p.Ala1008=) n.1938C= n.1040C= c.5156C= (p.Ala1719=) c.5198C= (p.Ala1733=) c.5177C= (p.Ala1726=) c.5171C= (p.Ala1724=) c.5150C= (p.Ala1717=) c.4061C= (p.Ala1354=) c.5159C= (p.Ala1720=) n.1041C= | |
11 | g.70473233G>T | CA381676221 | SHANK2 | c.3419C>A (p.Ala1140Asp) c.964C>A (n.964C>A) c.5186C>A (p.Ala1729Asp) c.2695C>A c.4049C>A (p.Ala1350Asp) c.3476C>A (p.Ala1159Asp) c.3422C>A (p.Ala1141Asp) c.*190C>A (n.*190C>A) c.3398C>A (p.Ala1133Asp) c.962C>A c.3023C>A (p.Ala1008Asp) n.1938C>A n.1040C>A c.5156C>A (p.Ala1719Asp) c.5198C>A (p.Ala1733Asp) c.5177C>A (p.Ala1726Asp) c.5171C>A (p.Ala1724Asp) c.5150C>A (p.Ala1717Asp) c.4061C>A (p.Ala1354Asp) c.5159C>A (p.Ala1720Asp) n.1041C>A | |
11 | g.70473233_70473242delinsGCAGCAGACA | CA1981067959 | SHANK2 | c.3410_3419delinsTGTCTGCTGC (p.Leu1137=) c.955_964delinsTGTCTGCTGC (n.955_964delinsTGTCTGCTGC) c.5177_5186delinsTGTCTGCTGC (p.Leu1726=) c.2686_2695delinsTGTCTGCTGC c.4040_4049delinsTGTCTGCTGC (p.Leu1347=) c.3467_3476delinsTGTCTGCTGC (p.Leu1156=) c.3413_3422delinsTGTCTGCTGC (p.Leu1138=) c.*181_*190delinsTGTCTGCTGC (n.*181_*190delinsTGTCTGCTGC) c.3389_3398delinsTGTCTGCTGC (p.Leu1130=) c.953_962delinsTGTCTGCTGC c.3014_3023delinsTGTCTGCTGC (p.Leu1005=) n.1929_1938delinsTGTCTGCTGC n.1031_1040delinsTGTCTGCTGC c.5147_5156delinsTGTCTGCTGC (p.Leu1716=) c.5189_5198delinsTGTCTGCTGC (p.Leu1730=) c.5168_5177delinsTGTCTGCTGC (p.Leu1723=) c.5162_5171delinsTGTCTGCTGC (p.Leu1721=) c.5141_5150delinsTGTCTGCTGC (p.Leu1714=) c.4052_4061delinsTGTCTGCTGC (p.Leu1351=) c.5150_5159delinsTGTCTGCTGC (p.Leu1717=) n.1032_1041delinsTGTCTGCTGC | |
11 | g.70473234C>A | CA381676222 | SHANK2 | c.3418G>T (p.Ala1140Ser) c.963G>T (n.963G>T) c.5185G>T (p.Ala1729Ser) c.2694G>T c.4048G>T (p.Ala1350Ser) c.3475G>T (p.Ala1159Ser) c.3421G>T (p.Ala1141Ser) c.*189G>T (n.*189G>T) c.3397G>T (p.Ala1133Ser) c.961G>T c.3022G>T (p.Ala1008Ser) n.1937G>T n.1039G>T c.5155G>T (p.Ala1719Ser) c.5197G>T (p.Ala1733Ser) c.5176G>T (p.Ala1726Ser) c.5170G>T (p.Ala1724Ser) c.5149G>T (p.Ala1717Ser) c.4060G>T (p.Ala1354Ser) c.5158G>T (p.Ala1720Ser) n.1040G>T | |
11 | g.70473234C= | CA1981067961 | SHANK2 | c.3418G= (p.Ala1140=) c.963G= (n.963G=) c.5185G= (p.Ala1729=) c.2694G= c.4048G= (p.Ala1350=) c.3475G= (p.Ala1159=) c.3421G= (p.Ala1141=) c.*189G= (n.*189G=) c.3397G= (p.Ala1133=) c.961G= c.3022G= (p.Ala1008=) n.1937G= n.1039G= c.5155G= (p.Ala1719=) c.5197G= (p.Ala1733=) c.5176G= (p.Ala1726=) c.5170G= (p.Ala1724=) c.5149G= (p.Ala1717=) c.4060G= (p.Ala1354=) c.5158G= (p.Ala1720=) n.1040G= | |
11 | g.70473234C>G | CA381676223 | SHANK2 | c.3418G>C (p.Ala1140Pro) c.963G>C (n.963G>C) c.5185G>C (p.Ala1729Pro) c.2694G>C c.4048G>C (p.Ala1350Pro) c.3475G>C (p.Ala1159Pro) c.3421G>C (p.Ala1141Pro) c.*189G>C (n.*189G>C) c.3397G>C (p.Ala1133Pro) c.961G>C c.3022G>C (p.Ala1008Pro) n.1937G>C n.1039G>C c.5155G>C (p.Ala1719Pro) c.5197G>C (p.Ala1733Pro) c.5176G>C (p.Ala1726Pro) c.5170G>C (p.Ala1724Pro) c.5149G>C (p.Ala1717Pro) c.4060G>C (p.Ala1354Pro) c.5158G>C (p.Ala1720Pro) n.1040G>C | dbSNP |
11 | g.70473234C>T | CA6160750 | SHANK2 | c.3418G>A (p.Ala1140Thr) c.963G>A (n.963G>A) c.5185G>A (p.Ala1729Thr) c.2694G>A c.4048G>A (p.Ala1350Thr) c.3475G>A (p.Ala1159Thr) c.3421G>A (p.Ala1141Thr) c.*189G>A (n.*189G>A) c.3397G>A (p.Ala1133Thr) c.961G>A c.3022G>A (p.Ala1008Thr) n.1937G>A n.1039G>A c.5155G>A (p.Ala1719Thr) c.5197G>A (p.Ala1733Thr) c.5176G>A (p.Ala1726Thr) c.5170G>A (p.Ala1724Thr) c.5149G>A (p.Ala1717Thr) c.4060G>A (p.Ala1354Thr) c.5158G>A (p.Ala1720Thr) n.1040G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473234_70473242del | CA223591812 | SHANK2 | c.3410_3418del (p.Leu1137_Ala1140delinsPro) c.955_963del (n.955_963del) c.5177_5185del (p.Leu1726_Ala1729delinsPro) c.2686_2694del c.4040_4048del (p.Leu1347_Ala1350delinsPro) c.3467_3475del (p.Leu1156_Ala1159delinsPro) c.3413_3421del (p.Leu1138_Ala1141delinsPro) c.*181_*189del (n.*181_*189del) c.3389_3397del (p.Leu1130_Ala1133delinsPro) c.953_961del c.3014_3022del (p.Leu1005_Ala1008delinsPro) n.1929_1937del n.1031_1039del c.5147_5155del (p.Leu1716_Ala1719delinsPro) c.5189_5197del (p.Leu1730_Ala1733delinsPro) c.5168_5176del (p.Leu1723_Ala1726delinsPro) c.5162_5170del (p.Leu1721_Ala1724delinsPro) c.5141_5149del (p.Leu1714_Ala1717delinsPro) c.4052_4060del (p.Leu1351_Ala1354delinsPro) c.5150_5158del (p.Leu1717_Ala1720delinsPro) n.1032_1040del | dbSNP |
11 | g.70473235A>C | CA475470654 | SHANK2 | c.3417T>G (p.Ala1139=) c.962T>G (n.962T>G) c.5184T>G (p.Ala1728=) c.2693T>G c.4047T>G (p.Ala1349=) c.3474T>G (p.Ala1158=) c.3420T>G (p.Ala1140=) c.*188T>G (n.*188T>G) c.3396T>G (p.Ala1132=) c.960T>G c.3021T>G (p.Ala1007=) n.1936T>G n.1038T>G c.5154T>G (p.Ala1718=) c.5196T>G (p.Ala1732=) c.5175T>G (p.Ala1725=) c.5169T>G (p.Ala1723=) c.5148T>G (p.Ala1716=) c.4059T>G (p.Ala1353=) c.5157T>G (p.Ala1719=) n.1039T>G | |
11 | g.70473235A>G | CA475470653 | SHANK2 | c.3417T>C (p.Ala1139=) c.962T>C (n.962T>C) c.5184T>C (p.Ala1728=) c.2693T>C c.4047T>C (p.Ala1349=) c.3474T>C (p.Ala1158=) c.3420T>C (p.Ala1140=) c.*188T>C (n.*188T>C) c.3396T>C (p.Ala1132=) c.960T>C c.3021T>C (p.Ala1007=) n.1936T>C n.1038T>C c.5154T>C (p.Ala1718=) c.5196T>C (p.Ala1732=) c.5175T>C (p.Ala1725=) c.5169T>C (p.Ala1723=) c.5148T>C (p.Ala1716=) c.4059T>C (p.Ala1353=) c.5157T>C (p.Ala1719=) n.1039T>C | |
11 | g.70473235A>T | CA475470652 | SHANK2 | c.3417T>A (p.Ala1139=) c.962T>A (n.962T>A) c.5184T>A (p.Ala1728=) c.2693T>A c.4047T>A (p.Ala1349=) c.3474T>A (p.Ala1158=) c.3420T>A (p.Ala1140=) c.*188T>A (n.*188T>A) c.3396T>A (p.Ala1132=) c.960T>A c.3021T>A (p.Ala1007=) n.1936T>A n.1038T>A c.5154T>A (p.Ala1718=) c.5196T>A (p.Ala1732=) c.5175T>A (p.Ala1725=) c.5169T>A (p.Ala1723=) c.5148T>A (p.Ala1716=) c.4059T>A (p.Ala1353=) c.5157T>A (p.Ala1719=) n.1039T>A | |
11 | g.70473236G>A | CA381676224 | SHANK2 | c.3416C>T (p.Ala1139Val) c.961C>T (n.961C>T) c.5183C>T (p.Ala1728Val) c.2692C>T c.4046C>T (p.Ala1349Val) c.3473C>T (p.Ala1158Val) c.3419C>T (p.Ala1140Val) c.*187C>T (n.*187C>T) c.3395C>T (p.Ala1132Val) c.959C>T c.3020C>T (p.Ala1007Val) n.1935C>T n.1037C>T c.5153C>T (p.Ala1718Val) c.5195C>T (p.Ala1732Val) c.5174C>T (p.Ala1725Val) c.5168C>T (p.Ala1723Val) c.5147C>T (p.Ala1716Val) c.4058C>T (p.Ala1353Val) c.5156C>T (p.Ala1719Val) n.1038C>T | |
11 | g.70473236G>C | CA381676225 | SHANK2 | c.3416C>G (p.Ala1139Gly) c.961C>G (n.961C>G) c.5183C>G (p.Ala1728Gly) c.2692C>G c.4046C>G (p.Ala1349Gly) c.3473C>G (p.Ala1158Gly) c.3419C>G (p.Ala1140Gly) c.*187C>G (n.*187C>G) c.3395C>G (p.Ala1132Gly) c.959C>G c.3020C>G (p.Ala1007Gly) n.1935C>G n.1037C>G c.5153C>G (p.Ala1718Gly) c.5195C>G (p.Ala1732Gly) c.5174C>G (p.Ala1725Gly) c.5168C>G (p.Ala1723Gly) c.5147C>G (p.Ala1716Gly) c.4058C>G (p.Ala1353Gly) c.5156C>G (p.Ala1719Gly) n.1038C>G | |
11 | g.70473236G>T | CA381676226 | SHANK2 | c.3416C>A (p.Ala1139Asp) c.961C>A (n.961C>A) c.5183C>A (p.Ala1728Asp) c.2692C>A c.4046C>A (p.Ala1349Asp) c.3473C>A (p.Ala1158Asp) c.3419C>A (p.Ala1140Asp) c.*187C>A (n.*187C>A) c.3395C>A (p.Ala1132Asp) c.959C>A c.3020C>A (p.Ala1007Asp) n.1935C>A n.1037C>A c.5153C>A (p.Ala1718Asp) c.5195C>A (p.Ala1732Asp) c.5174C>A (p.Ala1725Asp) c.5168C>A (p.Ala1723Asp) c.5147C>A (p.Ala1716Asp) c.4058C>A (p.Ala1353Asp) c.5156C>A (p.Ala1719Asp) n.1038C>A | |
11 | g.70473237C>A | CA381676227 | SHANK2 | c.3415G>T (p.Ala1139Ser) c.960G>T (n.960G>T) c.5182G>T (p.Ala1728Ser) c.2691G>T c.4045G>T (p.Ala1349Ser) c.3472G>T (p.Ala1158Ser) c.3418G>T (p.Ala1140Ser) c.*186G>T (n.*186G>T) c.3394G>T (p.Ala1132Ser) c.958G>T c.3019G>T (p.Ala1007Ser) n.1934G>T n.1036G>T c.5152G>T (p.Ala1718Ser) c.5194G>T (p.Ala1732Ser) c.5173G>T (p.Ala1725Ser) c.5167G>T (p.Ala1723Ser) c.5146G>T (p.Ala1716Ser) c.4057G>T (p.Ala1353Ser) c.5155G>T (p.Ala1719Ser) n.1037G>T | gnomAD v4 |
11 | g.70473237C= | CA1981067962 | SHANK2 | c.3415G= (p.Ala1139=) c.960G= (n.960G=) c.5182G= (p.Ala1728=) c.2691G= c.4045G= (p.Ala1349=) c.3472G= (p.Ala1158=) c.3418G= (p.Ala1140=) c.*186G= (n.*186G=) c.3394G= (p.Ala1132=) c.958G= c.3019G= (p.Ala1007=) n.1934G= n.1036G= c.5152G= (p.Ala1718=) c.5194G= (p.Ala1732=) c.5173G= (p.Ala1725=) c.5167G= (p.Ala1723=) c.5146G= (p.Ala1716=) c.4057G= (p.Ala1353=) c.5155G= (p.Ala1719=) n.1037G= | |
11 | g.70473237C>G | CA381676228 | SHANK2 | c.3415G>C (p.Ala1139Pro) c.960G>C (n.960G>C) c.5182G>C (p.Ala1728Pro) c.2691G>C c.4045G>C (p.Ala1349Pro) c.3472G>C (p.Ala1158Pro) c.3418G>C (p.Ala1140Pro) c.*186G>C (n.*186G>C) c.3394G>C (p.Ala1132Pro) c.958G>C c.3019G>C (p.Ala1007Pro) n.1934G>C n.1036G>C c.5152G>C (p.Ala1718Pro) c.5194G>C (p.Ala1732Pro) c.5173G>C (p.Ala1725Pro) c.5167G>C (p.Ala1723Pro) c.5146G>C (p.Ala1716Pro) c.4057G>C (p.Ala1353Pro) c.5155G>C (p.Ala1719Pro) n.1037G>C | |
11 | g.70473237C>T | CA6160751 | SHANK2 | c.3415G>A (p.Ala1139Thr) c.960G>A (n.960G>A) c.5182G>A (p.Ala1728Thr) c.2691G>A c.4045G>A (p.Ala1349Thr) c.3472G>A (p.Ala1158Thr) c.3418G>A (p.Ala1140Thr) c.*186G>A (n.*186G>A) c.3394G>A (p.Ala1132Thr) c.958G>A c.3019G>A (p.Ala1007Thr) n.1934G>A n.1036G>A c.5152G>A (p.Ala1718Thr) c.5194G>A (p.Ala1732Thr) c.5173G>A (p.Ala1725Thr) c.5167G>A (p.Ala1723Thr) c.5146G>A (p.Ala1716Thr) c.4057G>A (p.Ala1353Thr) c.5155G>A (p.Ala1719Thr) n.1037G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473238A>C | CA475470660 | SHANK2 | c.3414T>G (p.Ser1138=) c.959T>G (n.959T>G) c.5181T>G (p.Ser1727=) c.2690T>G c.4044T>G (p.Ser1348=) c.3471T>G (p.Ser1157=) c.3417T>G (p.Ser1139=) c.*185T>G (n.*185T>G) c.3393T>G (p.Ser1131=) c.957T>G c.3018T>G (p.Ser1006=) n.1933T>G n.1035T>G c.5151T>G (p.Ser1717=) c.5193T>G (p.Ser1731=) c.5172T>G (p.Ser1724=) c.5166T>G (p.Ser1722=) c.5145T>G (p.Ser1715=) c.4056T>G (p.Ser1352=) c.5154T>G (p.Ser1718=) n.1036T>G | |
11 | g.70473238A>G | CA475470659 | SHANK2 | c.3414T>C (p.Ser1138=) c.959T>C (n.959T>C) c.5181T>C (p.Ser1727=) c.2690T>C c.4044T>C (p.Ser1348=) c.3471T>C (p.Ser1157=) c.3417T>C (p.Ser1139=) c.*185T>C (n.*185T>C) c.3393T>C (p.Ser1131=) c.957T>C c.3018T>C (p.Ser1006=) n.1933T>C n.1035T>C c.5151T>C (p.Ser1717=) c.5193T>C (p.Ser1731=) c.5172T>C (p.Ser1724=) c.5166T>C (p.Ser1722=) c.5145T>C (p.Ser1715=) c.4056T>C (p.Ser1352=) c.5154T>C (p.Ser1718=) n.1036T>C | |
11 | g.70473238A>T | CA475470658 | SHANK2 | c.3414T>A (p.Ser1138=) c.959T>A (n.959T>A) c.5181T>A (p.Ser1727=) c.2690T>A c.4044T>A (p.Ser1348=) c.3471T>A (p.Ser1157=) c.3417T>A (p.Ser1139=) c.*185T>A (n.*185T>A) c.3393T>A (p.Ser1131=) c.957T>A c.3018T>A (p.Ser1006=) n.1933T>A n.1035T>A c.5151T>A (p.Ser1717=) c.5193T>A (p.Ser1731=) c.5172T>A (p.Ser1724=) c.5166T>A (p.Ser1722=) c.5145T>A (p.Ser1715=) c.4056T>A (p.Ser1352=) c.5154T>A (p.Ser1718=) n.1036T>A | |
11 | g.70473239G>A | CA381676229 | SHANK2 | c.3413C>T (p.Ser1138Phe) c.958C>T (n.958C>T) c.5180C>T (p.Ser1727Phe) c.2689C>T c.4043C>T (p.Ser1348Phe) c.3470C>T (p.Ser1157Phe) c.3416C>T (p.Ser1139Phe) c.*184C>T (n.*184C>T) c.3392C>T (p.Ser1131Phe) c.956C>T c.3017C>T (p.Ser1006Phe) n.1932C>T n.1034C>T c.5150C>T (p.Ser1717Phe) c.5192C>T (p.Ser1731Phe) c.5171C>T (p.Ser1724Phe) c.5165C>T (p.Ser1722Phe) c.5144C>T (p.Ser1715Phe) c.4055C>T (p.Ser1352Phe) c.5153C>T (p.Ser1718Phe) n.1035C>T | gnomAD v4 |
11 | g.70473239G>C | CA381676230 | SHANK2 | c.3413C>G (p.Ser1138Cys) c.958C>G (n.958C>G) c.5180C>G (p.Ser1727Cys) c.2689C>G c.4043C>G (p.Ser1348Cys) c.3470C>G (p.Ser1157Cys) c.3416C>G (p.Ser1139Cys) c.*184C>G (n.*184C>G) c.3392C>G (p.Ser1131Cys) c.956C>G c.3017C>G (p.Ser1006Cys) n.1932C>G n.1034C>G c.5150C>G (p.Ser1717Cys) c.5192C>G (p.Ser1731Cys) c.5171C>G (p.Ser1724Cys) c.5165C>G (p.Ser1722Cys) c.5144C>G (p.Ser1715Cys) c.4055C>G (p.Ser1352Cys) c.5153C>G (p.Ser1718Cys) n.1035C>G | |
11 | g.70473239G>T | CA381676231 | SHANK2 | c.3413C>A (p.Ser1138Tyr) c.958C>A (n.958C>A) c.5180C>A (p.Ser1727Tyr) c.2689C>A c.4043C>A (p.Ser1348Tyr) c.3470C>A (p.Ser1157Tyr) c.3416C>A (p.Ser1139Tyr) c.*184C>A (n.*184C>A) c.3392C>A (p.Ser1131Tyr) c.956C>A c.3017C>A (p.Ser1006Tyr) n.1932C>A n.1034C>A c.5150C>A (p.Ser1717Tyr) c.5192C>A (p.Ser1731Tyr) c.5171C>A (p.Ser1724Tyr) c.5165C>A (p.Ser1722Tyr) c.5144C>A (p.Ser1715Tyr) c.4055C>A (p.Ser1352Tyr) c.5153C>A (p.Ser1718Tyr) n.1035C>A | gnomAD v4 |
11 | g.70473240A>C | CA381676232 | SHANK2 | c.3412T>G (p.Ser1138Ala) c.957T>G (n.957T>G) c.5179T>G (p.Ser1727Ala) c.2688T>G c.4042T>G (p.Ser1348Ala) c.3469T>G (p.Ser1157Ala) c.3415T>G (p.Ser1139Ala) c.*183T>G (n.*183T>G) c.3391T>G (p.Ser1131Ala) c.955T>G c.3016T>G (p.Ser1006Ala) n.1931T>G n.1033T>G c.5149T>G (p.Ser1717Ala) c.5191T>G (p.Ser1731Ala) c.5170T>G (p.Ser1724Ala) c.5164T>G (p.Ser1722Ala) c.5143T>G (p.Ser1715Ala) c.4054T>G (p.Ser1352Ala) c.5152T>G (p.Ser1718Ala) n.1034T>G | |
11 | g.70473240A>G | CA381676233 | SHANK2 | c.3412T>C (p.Ser1138Pro) c.957T>C (n.957T>C) c.5179T>C (p.Ser1727Pro) c.2688T>C c.4042T>C (p.Ser1348Pro) c.3469T>C (p.Ser1157Pro) c.3415T>C (p.Ser1139Pro) c.*183T>C (n.*183T>C) c.3391T>C (p.Ser1131Pro) c.955T>C c.3016T>C (p.Ser1006Pro) n.1931T>C n.1033T>C c.5149T>C (p.Ser1717Pro) c.5191T>C (p.Ser1731Pro) c.5170T>C (p.Ser1724Pro) c.5164T>C (p.Ser1722Pro) c.5143T>C (p.Ser1715Pro) c.4054T>C (p.Ser1352Pro) c.5152T>C (p.Ser1718Pro) n.1034T>C | |
11 | g.70473240A>T | CA381676234 | SHANK2 | c.3412T>A (p.Ser1138Thr) c.957T>A (n.957T>A) c.5179T>A (p.Ser1727Thr) c.2688T>A c.4042T>A (p.Ser1348Thr) c.3469T>A (p.Ser1157Thr) c.3415T>A (p.Ser1139Thr) c.*183T>A (n.*183T>A) c.3391T>A (p.Ser1131Thr) c.955T>A c.3016T>A (p.Ser1006Thr) n.1931T>A n.1033T>A c.5149T>A (p.Ser1717Thr) c.5191T>A (p.Ser1731Thr) c.5170T>A (p.Ser1724Thr) c.5164T>A (p.Ser1722Thr) c.5143T>A (p.Ser1715Thr) c.4054T>A (p.Ser1352Thr) c.5152T>A (p.Ser1718Thr) n.1034T>A | gnomAD v4 |
11 | g.70473241C>A | CA475470663 | SHANK2 | c.3411G>T (p.Leu1137=) c.956G>T (n.956G>T) c.5178G>T (p.Leu1726=) c.2687G>T c.4041G>T (p.Leu1347=) c.3468G>T (p.Leu1156=) c.3414G>T (p.Leu1138=) c.*182G>T (n.*182G>T) c.3390G>T (p.Leu1130=) c.954G>T c.3015G>T (p.Leu1005=) n.1930G>T n.1032G>T c.5148G>T (p.Leu1716=) c.5190G>T (p.Leu1730=) c.5169G>T (p.Leu1723=) c.5163G>T (p.Leu1721=) c.5142G>T (p.Leu1714=) c.4053G>T (p.Leu1351=) c.5151G>T (p.Leu1717=) n.1033G>T | |
11 | g.70473241C>G | CA475470666 | SHANK2 | c.3411G>C (p.Leu1137=) c.956G>C (n.956G>C) c.5178G>C (p.Leu1726=) c.2687G>C c.4041G>C (p.Leu1347=) c.3468G>C (p.Leu1156=) c.3414G>C (p.Leu1138=) c.*182G>C (n.*182G>C) c.3390G>C (p.Leu1130=) c.954G>C c.3015G>C (p.Leu1005=) n.1930G>C n.1032G>C c.5148G>C (p.Leu1716=) c.5190G>C (p.Leu1730=) c.5169G>C (p.Leu1723=) c.5163G>C (p.Leu1721=) c.5142G>C (p.Leu1714=) c.4053G>C (p.Leu1351=) c.5151G>C (p.Leu1717=) n.1033G>C | |
11 | g.70473241C>T | CA475470665 | SHANK2 | c.3411G>A (p.Leu1137=) c.956G>A (n.956G>A) c.5178G>A (p.Leu1726=) c.2687G>A c.4041G>A (p.Leu1347=) c.3468G>A (p.Leu1156=) c.3414G>A (p.Leu1138=) c.*182G>A (n.*182G>A) c.3390G>A (p.Leu1130=) c.954G>A c.3015G>A (p.Leu1005=) n.1930G>A n.1032G>A c.5148G>A (p.Leu1716=) c.5190G>A (p.Leu1730=) c.5169G>A (p.Leu1723=) c.5163G>A (p.Leu1721=) c.5142G>A (p.Leu1714=) c.4053G>A (p.Leu1351=) c.5151G>A (p.Leu1717=) n.1033G>A | |
11 | g.70473242A= | CA1981067963 | SHANK2 | c.3410T= (p.Leu1137=) c.955T= (n.955T=) c.5177T= (p.Leu1726=) c.2686T= c.4040T= (p.Leu1347=) c.3467T= (p.Leu1156=) c.3413T= (p.Leu1138=) c.*181T= (n.*181T=) c.3389T= (p.Leu1130=) c.953T= c.3014T= (p.Leu1005=) n.1929T= n.1031T= c.5147T= (p.Leu1716=) c.5189T= (p.Leu1730=) c.5168T= (p.Leu1723=) c.5162T= (p.Leu1721=) c.5141T= (p.Leu1714=) c.4052T= (p.Leu1351=) c.5150T= (p.Leu1717=) n.1032T= | |
11 | g.70473242A>C | CA381676235 | SHANK2 | c.3410T>G (p.Leu1137Arg) c.955T>G (n.955T>G) c.5177T>G (p.Leu1726Arg) c.2686T>G c.4040T>G (p.Leu1347Arg) c.3467T>G (p.Leu1156Arg) c.3413T>G (p.Leu1138Arg) c.*181T>G (n.*181T>G) c.3389T>G (p.Leu1130Arg) c.953T>G c.3014T>G (p.Leu1005Arg) n.1929T>G n.1031T>G c.5147T>G (p.Leu1716Arg) c.5189T>G (p.Leu1730Arg) c.5168T>G (p.Leu1723Arg) c.5162T>G (p.Leu1721Arg) c.5141T>G (p.Leu1714Arg) c.4052T>G (p.Leu1351Arg) c.5150T>G (p.Leu1717Arg) n.1032T>G | |
11 | g.70473242A>G | CA381676236 | SHANK2 | c.3410T>C (p.Leu1137Pro) c.955T>C (n.955T>C) c.5177T>C (p.Leu1726Pro) c.2686T>C c.4040T>C (p.Leu1347Pro) c.3467T>C (p.Leu1156Pro) c.3413T>C (p.Leu1138Pro) c.*181T>C (n.*181T>C) c.3389T>C (p.Leu1130Pro) c.953T>C c.3014T>C (p.Leu1005Pro) n.1929T>C n.1031T>C c.5147T>C (p.Leu1716Pro) c.5189T>C (p.Leu1730Pro) c.5168T>C (p.Leu1723Pro) c.5162T>C (p.Leu1721Pro) c.5141T>C (p.Leu1714Pro) c.4052T>C (p.Leu1351Pro) c.5150T>C (p.Leu1717Pro) n.1032T>C | dbSNP |
11 | g.70473242A>T | CA381676237 | SHANK2 | c.3410T>A (p.Leu1137Gln) c.955T>A (n.955T>A) c.5177T>A (p.Leu1726Gln) c.2686T>A c.4040T>A (p.Leu1347Gln) c.3467T>A (p.Leu1156Gln) c.3413T>A (p.Leu1138Gln) c.*181T>A (n.*181T>A) c.3389T>A (p.Leu1130Gln) c.953T>A c.3014T>A (p.Leu1005Gln) n.1929T>A n.1031T>A c.5147T>A (p.Leu1716Gln) c.5189T>A (p.Leu1730Gln) c.5168T>A (p.Leu1723Gln) c.5162T>A (p.Leu1721Gln) c.5141T>A (p.Leu1714Gln) c.4052T>A (p.Leu1351Gln) c.5150T>A (p.Leu1717Gln) n.1032T>A | dbSNP |
11 | g.70473242_70473243del | CA2574908643 | SHANK2 | c.3409_3410del (p.Leu1137ValfsTer16) c.954_955del (n.954_955del) c.5176_5177del (p.Leu1726ValfsTer16) c.2685_2686del c.4039_4040del (p.Leu1347ValfsTer16) c.3466_3467del (p.Leu1156ValfsTer16) c.3412_3413del (p.Leu1138ValfsTer16) c.*180_*181del (n.*180_*181del) c.3388_3389del (p.Leu1130ValfsTer16) c.952_953del c.3013_3014del (p.Leu1005ValfsTer16) n.1928_1929del n.1030_1031del c.5146_5147del (p.Leu1716ValfsTer16) c.5188_5189del (p.Leu1730ValfsTer16) c.5167_5168del (p.Leu1723ValfsTer16) c.5161_5162del (p.Leu1721ValfsTer16) c.5140_5141del (p.Leu1714ValfsTer16) c.4051_4052del (p.Leu1351ValfsTer16) c.5149_5150del (p.Leu1717ValfsTer16) n.1031_1032del | ClinVar |
11 | g.70473243G>A | CA475470667 | SHANK2 | c.3409C>T (p.Leu1137=) c.954C>T (n.954C>T) c.5176C>T (p.Leu1726=) c.2685C>T c.4039C>T (p.Leu1347=) c.3466C>T (p.Leu1156=) c.3412C>T (p.Leu1138=) c.*180C>T (n.*180C>T) c.3388C>T (p.Leu1130=) c.952C>T c.3013C>T (p.Leu1005=) n.1928C>T n.1030C>T c.5146C>T (p.Leu1716=) c.5188C>T (p.Leu1730=) c.5167C>T (p.Leu1723=) c.5161C>T (p.Leu1721=) c.5140C>T (p.Leu1714=) c.4051C>T (p.Leu1351=) c.5149C>T (p.Leu1717=) n.1031C>T | |
11 | g.70473243G>C | CA381676238 | SHANK2 | c.3409C>G (p.Leu1137Val) c.954C>G (n.954C>G) c.5176C>G (p.Leu1726Val) c.2685C>G c.4039C>G (p.Leu1347Val) c.3466C>G (p.Leu1156Val) c.3412C>G (p.Leu1138Val) c.*180C>G (n.*180C>G) c.3388C>G (p.Leu1130Val) c.952C>G c.3013C>G (p.Leu1005Val) n.1928C>G n.1030C>G c.5146C>G (p.Leu1716Val) c.5188C>G (p.Leu1730Val) c.5167C>G (p.Leu1723Val) c.5161C>G (p.Leu1721Val) c.5140C>G (p.Leu1714Val) c.4051C>G (p.Leu1351Val) c.5149C>G (p.Leu1717Val) n.1031C>G | |
11 | g.70473243G= | CA1981067964 | SHANK2 | c.3409C= (p.Leu1137=) c.954C= (n.954C=) c.5176C= (p.Leu1726=) c.2685C= c.4039C= (p.Leu1347=) c.3466C= (p.Leu1156=) c.3412C= (p.Leu1138=) c.*180C= (n.*180C=) c.3388C= (p.Leu1130=) c.952C= c.3013C= (p.Leu1005=) n.1928C= n.1030C= c.5146C= (p.Leu1716=) c.5188C= (p.Leu1730=) c.5167C= (p.Leu1723=) c.5161C= (p.Leu1721=) c.5140C= (p.Leu1714=) c.4051C= (p.Leu1351=) c.5149C= (p.Leu1717=) n.1031C= | |
11 | g.70473243G>T | CA6160752 | SHANK2 | c.3409C>A (p.Leu1137Met) c.954C>A (n.954C>A) c.5176C>A (p.Leu1726Met) c.2685C>A c.4039C>A (p.Leu1347Met) c.3466C>A (p.Leu1156Met) c.3412C>A (p.Leu1138Met) c.*180C>A (n.*180C>A) c.3388C>A (p.Leu1130Met) c.952C>A c.3013C>A (p.Leu1005Met) n.1928C>A n.1030C>A c.5146C>A (p.Leu1716Met) c.5188C>A (p.Leu1730Met) c.5167C>A (p.Leu1723Met) c.5161C>A (p.Leu1721Met) c.5140C>A (p.Leu1714Met) c.4051C>A (p.Leu1351Met) c.5149C>A (p.Leu1717Met) n.1031C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473248dup | CA2792603590 | SHANK2 | c.3409dup (p.Leu1137ProfsTer17) c.954dup (n.954dup) c.5176dup (p.Leu1726ProfsTer17) c.2685dup c.4039dup (p.Leu1347ProfsTer17) c.3466dup (p.Leu1156ProfsTer17) c.3412dup (p.Leu1138ProfsTer17) c.*180dup (n.*180dup) c.3388dup (p.Leu1130ProfsTer17) c.952dup c.3013dup (p.Leu1005ProfsTer17) n.1928dup n.1030dup c.5146dup (p.Leu1716ProfsTer17) c.5188dup (p.Leu1730ProfsTer17) c.5167dup (p.Leu1723ProfsTer17) c.5161dup (p.Leu1721ProfsTer17) c.5140dup (p.Leu1714ProfsTer17) c.4051dup (p.Leu1351ProfsTer17) c.5149dup (p.Leu1717ProfsTer17) n.1031dup | |
11 | g.70473248del | CA645583697 | SHANK2 | c.3409del (p.Leu1137CysfsTer30) c.954del (n.954del) c.5176del (p.Leu1726CysfsTer30) c.2685del c.4039del (p.Leu1347CysfsTer30) c.3466del (p.Leu1156CysfsTer30) c.3412del (p.Leu1138CysfsTer30) c.*180del (n.*180del) c.3388del (p.Leu1130CysfsTer30) c.952del c.3013del (p.Leu1005CysfsTer30) n.1928del n.1030del c.5146del (p.Leu1716CysfsTer30) c.5188del (p.Leu1730CysfsTer30) c.5167del (p.Leu1723CysfsTer30) c.5161del (p.Leu1721CysfsTer30) c.5140del (p.Leu1714CysfsTer30) c.4051del (p.Leu1351CysfsTer30) c.5149del (p.Leu1717CysfsTer30) n.1031del | gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.70473244G>A | CA475470669 | SHANK2 | c.3408C>T (p.Pro1136=) c.953C>T (n.953C>T) c.5175C>T (p.Pro1725=) c.2684C>T c.4038C>T (p.Pro1346=) c.3465C>T (p.Pro1155=) c.3411C>T (p.Pro1137=) c.*179C>T (n.*179C>T) c.3387C>T (p.Pro1129=) c.951C>T c.3012C>T (p.Pro1004=) n.1927C>T n.1029C>T c.5145C>T (p.Pro1715=) c.5187C>T (p.Pro1729=) c.5166C>T (p.Pro1722=) c.5160C>T (p.Pro1720=) c.5139C>T (p.Pro1713=) c.4050C>T (p.Pro1350=) c.5148C>T (p.Pro1716=) n.1030C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473244G>C | CA475470671 | SHANK2 | c.3408C>G (p.Pro1136=) c.953C>G (n.953C>G) c.5175C>G (p.Pro1725=) c.2684C>G c.4038C>G (p.Pro1346=) c.3465C>G (p.Pro1155=) c.3411C>G (p.Pro1137=) c.*179C>G (n.*179C>G) c.3387C>G (p.Pro1129=) c.951C>G c.3012C>G (p.Pro1004=) n.1927C>G n.1029C>G c.5145C>G (p.Pro1715=) c.5187C>G (p.Pro1729=) c.5166C>G (p.Pro1722=) c.5160C>G (p.Pro1720=) c.5139C>G (p.Pro1713=) c.4050C>G (p.Pro1350=) c.5148C>G (p.Pro1716=) n.1030C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473244G= | CA1981067965 | SHANK2 | c.3408C= (p.Pro1136=) c.953C= (n.953C=) c.5175C= (p.Pro1725=) c.2684C= c.4038C= (p.Pro1346=) c.3465C= (p.Pro1155=) c.3411C= (p.Pro1137=) c.*179C= (n.*179C=) c.3387C= (p.Pro1129=) c.951C= c.3012C= (p.Pro1004=) n.1927C= n.1029C= c.5145C= (p.Pro1715=) c.5187C= (p.Pro1729=) c.5166C= (p.Pro1722=) c.5160C= (p.Pro1720=) c.5139C= (p.Pro1713=) c.4050C= (p.Pro1350=) c.5148C= (p.Pro1716=) n.1030C= | |
11 | g.70473244G>T | CA6160753 | SHANK2 | c.3408C>A (p.Pro1136=) c.953C>A (n.953C>A) c.5175C>A (p.Pro1725=) c.2684C>A c.4038C>A (p.Pro1346=) c.3465C>A (p.Pro1155=) c.3411C>A (p.Pro1137=) c.*179C>A (n.*179C>A) c.3387C>A (p.Pro1129=) c.951C>A c.3012C>A (p.Pro1004=) n.1927C>A n.1029C>A c.5145C>A (p.Pro1715=) c.5187C>A (p.Pro1729=) c.5166C>A (p.Pro1722=) c.5160C>A (p.Pro1720=) c.5139C>A (p.Pro1713=) c.4050C>A (p.Pro1350=) c.5148C>A (p.Pro1716=) n.1030C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473245G>A | CA381676241 | SHANK2 | c.3407C>T (p.Pro1136Leu) c.952C>T (n.952C>T) c.5174C>T (p.Pro1725Leu) c.2683C>T c.4037C>T (p.Pro1346Leu) c.3464C>T (p.Pro1155Leu) c.3410C>T (p.Pro1137Leu) c.*178C>T (n.*178C>T) c.3386C>T (p.Pro1129Leu) c.950C>T c.3011C>T (p.Pro1004Leu) n.1926C>T n.1028C>T c.5144C>T (p.Pro1715Leu) c.5186C>T (p.Pro1729Leu) c.5165C>T (p.Pro1722Leu) c.5159C>T (p.Pro1720Leu) c.5138C>T (p.Pro1713Leu) c.4049C>T (p.Pro1350Leu) c.5147C>T (p.Pro1716Leu) n.1029C>T | COSMIC COSMIC COSMIC |
11 | g.70473245G>C | CA381676240 | SHANK2 | c.3407C>G (p.Pro1136Arg) c.952C>G (n.952C>G) c.5174C>G (p.Pro1725Arg) c.2683C>G c.4037C>G (p.Pro1346Arg) c.3464C>G (p.Pro1155Arg) c.3410C>G (p.Pro1137Arg) c.*178C>G (n.*178C>G) c.3386C>G (p.Pro1129Arg) c.950C>G c.3011C>G (p.Pro1004Arg) n.1926C>G n.1028C>G c.5144C>G (p.Pro1715Arg) c.5186C>G (p.Pro1729Arg) c.5165C>G (p.Pro1722Arg) c.5159C>G (p.Pro1720Arg) c.5138C>G (p.Pro1713Arg) c.4049C>G (p.Pro1350Arg) c.5147C>G (p.Pro1716Arg) n.1029C>G | |
11 | g.70473245G>T | CA381676239 | SHANK2 | c.3407C>A (p.Pro1136His) c.952C>A (n.952C>A) c.5174C>A (p.Pro1725His) c.2683C>A c.4037C>A (p.Pro1346His) c.3464C>A (p.Pro1155His) c.3410C>A (p.Pro1137His) c.*178C>A (n.*178C>A) c.3386C>A (p.Pro1129His) c.950C>A c.3011C>A (p.Pro1004His) n.1926C>A n.1028C>A c.5144C>A (p.Pro1715His) c.5186C>A (p.Pro1729His) c.5165C>A (p.Pro1722His) c.5159C>A (p.Pro1720His) c.5138C>A (p.Pro1713His) c.4049C>A (p.Pro1350His) c.5147C>A (p.Pro1716His) n.1029C>A | |
11 | g.70473246G>A | CA6160754 | SHANK2 | c.3406C>T (p.Pro1136Ser) c.951C>T (n.951C>T) c.5173C>T (p.Pro1725Ser) c.2682C>T c.4036C>T (p.Pro1346Ser) c.3463C>T (p.Pro1155Ser) c.3409C>T (p.Pro1137Ser) c.*177C>T (n.*177C>T) c.3385C>T (p.Pro1129Ser) c.949C>T c.3010C>T (p.Pro1004Ser) n.1925C>T n.1027C>T c.5143C>T (p.Pro1715Ser) c.5185C>T (p.Pro1729Ser) c.5164C>T (p.Pro1722Ser) c.5158C>T (p.Pro1720Ser) c.5137C>T (p.Pro1713Ser) c.4048C>T (p.Pro1350Ser) c.5146C>T (p.Pro1716Ser) n.1028C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473246G>C | CA381676242 | SHANK2 | c.3406C>G (p.Pro1136Ala) c.951C>G (n.951C>G) c.5173C>G (p.Pro1725Ala) c.2682C>G c.4036C>G (p.Pro1346Ala) c.3463C>G (p.Pro1155Ala) c.3409C>G (p.Pro1137Ala) c.*177C>G (n.*177C>G) c.3385C>G (p.Pro1129Ala) c.949C>G c.3010C>G (p.Pro1004Ala) n.1925C>G n.1027C>G c.5143C>G (p.Pro1715Ala) c.5185C>G (p.Pro1729Ala) c.5164C>G (p.Pro1722Ala) c.5158C>G (p.Pro1720Ala) c.5137C>G (p.Pro1713Ala) c.4048C>G (p.Pro1350Ala) c.5146C>G (p.Pro1716Ala) n.1028C>G | |
11 | g.70473246G= | CA1981067966 | SHANK2 | c.3406C= (p.Pro1136=) c.951C= (n.951C=) c.5173C= (p.Pro1725=) c.2682C= c.4036C= (p.Pro1346=) c.3463C= (p.Pro1155=) c.3409C= (p.Pro1137=) c.*177C= (n.*177C=) c.3385C= (p.Pro1129=) c.949C= c.3010C= (p.Pro1004=) n.1925C= n.1027C= c.5143C= (p.Pro1715=) c.5185C= (p.Pro1729=) c.5164C= (p.Pro1722=) c.5158C= (p.Pro1720=) c.5137C= (p.Pro1713=) c.4048C= (p.Pro1350=) c.5146C= (p.Pro1716=) n.1028C= | |
11 | g.70473246G>T | CA381676243 | SHANK2 | c.3406C>A (p.Pro1136Thr) c.951C>A (n.951C>A) c.5173C>A (p.Pro1725Thr) c.2682C>A c.4036C>A (p.Pro1346Thr) c.3463C>A (p.Pro1155Thr) c.3409C>A (p.Pro1137Thr) c.*177C>A (n.*177C>A) c.3385C>A (p.Pro1129Thr) c.949C>A c.3010C>A (p.Pro1004Thr) n.1925C>A n.1027C>A c.5143C>A (p.Pro1715Thr) c.5185C>A (p.Pro1729Thr) c.5164C>A (p.Pro1722Thr) c.5158C>A (p.Pro1720Thr) c.5137C>A (p.Pro1713Thr) c.4048C>A (p.Pro1350Thr) c.5146C>A (p.Pro1716Thr) n.1028C>A | gnomAD v4 |
11 | g.70473247G>A | CA475470674 | SHANK2 | c.3405C>T (p.Ala1135=) c.950C>T (n.950C>T) c.5172C>T (p.Ala1724=) c.2681C>T c.4035C>T (p.Ala1345=) c.3462C>T (p.Ala1154=) c.3408C>T (p.Ala1136=) c.*176C>T (n.*176C>T) c.3384C>T (p.Ala1128=) c.948C>T c.3009C>T (p.Ala1003=) n.1924C>T n.1026C>T c.5142C>T (p.Ala1714=) c.5184C>T (p.Ala1728=) c.5163C>T (p.Ala1721=) c.5157C>T (p.Ala1719=) c.5136C>T (p.Ala1712=) c.4047C>T (p.Ala1349=) c.5145C>T (p.Ala1715=) n.1027C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.70473247G>C | CA475470675 | SHANK2 | c.3405C>G (p.Ala1135=) c.950C>G (n.950C>G) c.5172C>G (p.Ala1724=) c.2681C>G c.4035C>G (p.Ala1345=) c.3462C>G (p.Ala1154=) c.3408C>G (p.Ala1136=) c.*176C>G (n.*176C>G) c.3384C>G (p.Ala1128=) c.948C>G c.3009C>G (p.Ala1003=) n.1924C>G n.1026C>G c.5142C>G (p.Ala1714=) c.5184C>G (p.Ala1728=) c.5163C>G (p.Ala1721=) c.5157C>G (p.Ala1719=) c.5136C>G (p.Ala1712=) c.4047C>G (p.Ala1349=) c.5145C>G (p.Ala1715=) n.1027C>G | |
11 | g.70473247G= | CA1981067967 | SHANK2 | c.3405C= (p.Ala1135=) c.950C= (n.950C=) c.5172C= (p.Ala1724=) c.2681C= c.4035C= (p.Ala1345=) c.3462C= (p.Ala1154=) c.3408C= (p.Ala1136=) c.*176C= (n.*176C=) c.3384C= (p.Ala1128=) c.948C= c.3009C= (p.Ala1003=) n.1924C= n.1026C= c.5142C= (p.Ala1714=) c.5184C= (p.Ala1728=) c.5163C= (p.Ala1721=) c.5157C= (p.Ala1719=) c.5136C= (p.Ala1712=) c.4047C= (p.Ala1349=) c.5145C= (p.Ala1715=) n.1027C= | |
11 | g.70473247G>T | CA475470676 | SHANK2 | c.3405C>A (p.Ala1135=) c.950C>A (n.950C>A) c.5172C>A (p.Ala1724=) c.2681C>A c.4035C>A (p.Ala1345=) c.3462C>A (p.Ala1154=) c.3408C>A (p.Ala1136=) c.*176C>A (n.*176C>A) c.3384C>A (p.Ala1128=) c.948C>A c.3009C>A (p.Ala1003=) n.1924C>A n.1026C>A c.5142C>A (p.Ala1714=) c.5184C>A (p.Ala1728=) c.5163C>A (p.Ala1721=) c.5157C>A (p.Ala1719=) c.5136C>A (p.Ala1712=) c.4047C>A (p.Ala1349=) c.5145C>A (p.Ala1715=) n.1027C>A | gnomAD v4 |
11 | g.70473248G>A | CA381676244 | SHANK2 | c.3404C>T (p.Ala1135Val) c.949C>T (n.949C>T) c.5171C>T (p.Ala1724Val) c.2680C>T c.4034C>T (p.Ala1345Val) c.3461C>T (p.Ala1154Val) c.3407C>T (p.Ala1136Val) c.*175C>T (n.*175C>T) c.3383C>T (p.Ala1128Val) c.947C>T c.3008C>T (p.Ala1003Val) n.1923C>T n.1025C>T c.5141C>T (p.Ala1714Val) c.5183C>T (p.Ala1728Val) c.5162C>T (p.Ala1721Val) c.5156C>T (p.Ala1719Val) c.5135C>T (p.Ala1712Val) c.4046C>T (p.Ala1349Val) c.5144C>T (p.Ala1715Val) n.1026C>T | |
11 | g.70473248G>C | CA381676245 | SHANK2 | c.3404C>G (p.Ala1135Gly) c.949C>G (n.949C>G) c.5171C>G (p.Ala1724Gly) c.2680C>G c.4034C>G (p.Ala1345Gly) c.3461C>G (p.Ala1154Gly) c.3407C>G (p.Ala1136Gly) c.*175C>G (n.*175C>G) c.3383C>G (p.Ala1128Gly) c.947C>G c.3008C>G (p.Ala1003Gly) n.1923C>G n.1025C>G c.5141C>G (p.Ala1714Gly) c.5183C>G (p.Ala1728Gly) c.5162C>G (p.Ala1721Gly) c.5156C>G (p.Ala1719Gly) c.5135C>G (p.Ala1712Gly) c.4046C>G (p.Ala1349Gly) c.5144C>G (p.Ala1715Gly) n.1026C>G | |
11 | g.70473248G>T | CA381676246 | SHANK2 | c.3404C>A (p.Ala1135Asp) c.949C>A (n.949C>A) c.5171C>A (p.Ala1724Asp) c.2680C>A c.4034C>A (p.Ala1345Asp) c.3461C>A (p.Ala1154Asp) c.3407C>A (p.Ala1136Asp) c.*175C>A (n.*175C>A) c.3383C>A (p.Ala1128Asp) c.947C>A c.3008C>A (p.Ala1003Asp) n.1923C>A n.1025C>A c.5141C>A (p.Ala1714Asp) c.5183C>A (p.Ala1728Asp) c.5162C>A (p.Ala1721Asp) c.5156C>A (p.Ala1719Asp) c.5135C>A (p.Ala1712Asp) c.4046C>A (p.Ala1349Asp) c.5144C>A (p.Ala1715Asp) n.1026C>A | |
11 | g.70473249C>A | CA381676247 | SHANK2 | c.3403G>T (p.Ala1135Ser) c.948G>T (n.948G>T) c.5170G>T (p.Ala1724Ser) c.2679G>T c.4033G>T (p.Ala1345Ser) c.3460G>T (p.Ala1154Ser) c.3406G>T (p.Ala1136Ser) c.*174G>T (n.*174G>T) c.3382G>T (p.Ala1128Ser) c.946G>T c.3007G>T (p.Ala1003Ser) n.1922G>T n.1024G>T c.5140G>T (p.Ala1714Ser) c.5182G>T (p.Ala1728Ser) c.5161G>T (p.Ala1721Ser) c.5155G>T (p.Ala1719Ser) c.5134G>T (p.Ala1712Ser) c.4045G>T (p.Ala1349Ser) c.5143G>T (p.Ala1715Ser) n.1025G>T | |
11 | g.70473249C= | CA1981067968 | SHANK2 | c.3403G= (p.Ala1135=) c.948G= (n.948G=) c.5170G= (p.Ala1724=) c.2679G= c.4033G= (p.Ala1345=) c.3460G= (p.Ala1154=) c.3406G= (p.Ala1136=) c.*174G= (n.*174G=) c.3382G= (p.Ala1128=) c.946G= c.3007G= (p.Ala1003=) n.1922G= n.1024G= c.5140G= (p.Ala1714=) c.5182G= (p.Ala1728=) c.5161G= (p.Ala1721=) c.5155G= (p.Ala1719=) c.5134G= (p.Ala1712=) c.4045G= (p.Ala1349=) c.5143G= (p.Ala1715=) n.1025G= | |
11 | g.70473249C>G | CA381676248 | SHANK2 | c.3403G>C (p.Ala1135Pro) c.948G>C (n.948G>C) c.5170G>C (p.Ala1724Pro) c.2679G>C c.4033G>C (p.Ala1345Pro) c.3460G>C (p.Ala1154Pro) c.3406G>C (p.Ala1136Pro) c.*174G>C (n.*174G>C) c.3382G>C (p.Ala1128Pro) c.946G>C c.3007G>C (p.Ala1003Pro) n.1922G>C n.1024G>C c.5140G>C (p.Ala1714Pro) c.5182G>C (p.Ala1728Pro) c.5161G>C (p.Ala1721Pro) c.5155G>C (p.Ala1719Pro) c.5134G>C (p.Ala1712Pro) c.4045G>C (p.Ala1349Pro) c.5143G>C (p.Ala1715Pro) n.1025G>C | |
11 | g.70473249C>T | CA6160755 | SHANK2 | c.3403G>A (p.Ala1135Thr) c.948G>A (n.948G>A) c.5170G>A (p.Ala1724Thr) c.2679G>A c.4033G>A (p.Ala1345Thr) c.3460G>A (p.Ala1154Thr) c.3406G>A (p.Ala1136Thr) c.*174G>A (n.*174G>A) c.3382G>A (p.Ala1128Thr) c.946G>A c.3007G>A (p.Ala1003Thr) n.1922G>A n.1024G>A c.5140G>A (p.Ala1714Thr) c.5182G>A (p.Ala1728Thr) c.5161G>A (p.Ala1721Thr) c.5155G>A (p.Ala1719Thr) c.5134G>A (p.Ala1712Thr) c.4045G>A (p.Ala1349Thr) c.5143G>A (p.Ala1715Thr) n.1025G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473250G>A | CA6160756 | SHANK2 | c.3402C>T (p.Pro1134=) c.947C>T (n.947C>T) c.5169C>T (p.Pro1723=) c.2678C>T c.4032C>T (p.Pro1344=) c.3459C>T (p.Pro1153=) c.3405C>T (p.Pro1135=) c.*173C>T (n.*173C>T) c.3381C>T (p.Pro1127=) c.945C>T c.3006C>T (p.Pro1002=) n.1921C>T n.1023C>T c.5139C>T (p.Pro1713=) c.5181C>T (p.Pro1727=) c.5160C>T (p.Pro1720=) c.5154C>T (p.Pro1718=) c.5133C>T (p.Pro1711=) c.4044C>T (p.Pro1348=) c.5142C>T (p.Pro1714=) n.1024C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473250G>C | CA475470680 | SHANK2 | c.3402C>G (p.Pro1134=) c.947C>G (n.947C>G) c.5169C>G (p.Pro1723=) c.2678C>G c.4032C>G (p.Pro1344=) c.3459C>G (p.Pro1153=) c.3405C>G (p.Pro1135=) c.*173C>G (n.*173C>G) c.3381C>G (p.Pro1127=) c.945C>G c.3006C>G (p.Pro1002=) n.1921C>G n.1023C>G c.5139C>G (p.Pro1713=) c.5181C>G (p.Pro1727=) c.5160C>G (p.Pro1720=) c.5154C>G (p.Pro1718=) c.5133C>G (p.Pro1711=) c.4044C>G (p.Pro1348=) c.5142C>G (p.Pro1714=) n.1024C>G | dbSNP |
11 | g.70473250G= | CA1981067969 | SHANK2 | c.3402C= (p.Pro1134=) c.947C= (n.947C=) c.5169C= (p.Pro1723=) c.2678C= c.4032C= (p.Pro1344=) c.3459C= (p.Pro1153=) c.3405C= (p.Pro1135=) c.*173C= (n.*173C=) c.3381C= (p.Pro1127=) c.945C= c.3006C= (p.Pro1002=) n.1921C= n.1023C= c.5139C= (p.Pro1713=) c.5181C= (p.Pro1727=) c.5160C= (p.Pro1720=) c.5154C= (p.Pro1718=) c.5133C= (p.Pro1711=) c.4044C= (p.Pro1348=) c.5142C= (p.Pro1714=) n.1024C= | |
11 | g.70473250G>T | CA475470681 | SHANK2 | c.3402C>A (p.Pro1134=) c.947C>A (n.947C>A) c.5169C>A (p.Pro1723=) c.2678C>A c.4032C>A (p.Pro1344=) c.3459C>A (p.Pro1153=) c.3405C>A (p.Pro1135=) c.*173C>A (n.*173C>A) c.3381C>A (p.Pro1127=) c.945C>A c.3006C>A (p.Pro1002=) n.1921C>A n.1023C>A c.5139C>A (p.Pro1713=) c.5181C>A (p.Pro1727=) c.5160C>A (p.Pro1720=) c.5154C>A (p.Pro1718=) c.5133C>A (p.Pro1711=) c.4044C>A (p.Pro1348=) c.5142C>A (p.Pro1714=) n.1024C>A | |
11 | g.70473251G>A | CA381676249 | SHANK2 | c.3401C>T (p.Pro1134Leu) c.946C>T (n.946C>T) c.5168C>T (p.Pro1723Leu) c.2677C>T c.4031C>T (p.Pro1344Leu) c.3458C>T (p.Pro1153Leu) c.3404C>T (p.Pro1135Leu) c.*172C>T (n.*172C>T) c.3380C>T (p.Pro1127Leu) c.944C>T c.3005C>T (p.Pro1002Leu) n.1920C>T n.1022C>T c.5138C>T (p.Pro1713Leu) c.5180C>T (p.Pro1727Leu) c.5159C>T (p.Pro1720Leu) c.5153C>T (p.Pro1718Leu) c.5132C>T (p.Pro1711Leu) c.4043C>T (p.Pro1348Leu) c.5141C>T (p.Pro1714Leu) n.1023C>T | gnomAD v4 |
11 | g.70473251G>C | CA381676250 | SHANK2 | c.3401C>G (p.Pro1134Arg) c.946C>G (n.946C>G) c.5168C>G (p.Pro1723Arg) c.2677C>G c.4031C>G (p.Pro1344Arg) c.3458C>G (p.Pro1153Arg) c.3404C>G (p.Pro1135Arg) c.*172C>G (n.*172C>G) c.3380C>G (p.Pro1127Arg) c.944C>G c.3005C>G (p.Pro1002Arg) n.1920C>G n.1022C>G c.5138C>G (p.Pro1713Arg) c.5180C>G (p.Pro1727Arg) c.5159C>G (p.Pro1720Arg) c.5153C>G (p.Pro1718Arg) c.5132C>G (p.Pro1711Arg) c.4043C>G (p.Pro1348Arg) c.5141C>G (p.Pro1714Arg) n.1023C>G | |
11 | g.70473251G>T | CA381676251 | SHANK2 | c.3401C>A (p.Pro1134His) c.946C>A (n.946C>A) c.5168C>A (p.Pro1723His) c.2677C>A c.4031C>A (p.Pro1344His) c.3458C>A (p.Pro1153His) c.3404C>A (p.Pro1135His) c.*172C>A (n.*172C>A) c.3380C>A (p.Pro1127His) c.944C>A c.3005C>A (p.Pro1002His) n.1920C>A n.1022C>A c.5138C>A (p.Pro1713His) c.5180C>A (p.Pro1727His) c.5159C>A (p.Pro1720His) c.5153C>A (p.Pro1718His) c.5132C>A (p.Pro1711His) c.4043C>A (p.Pro1348His) c.5141C>A (p.Pro1714His) n.1023C>A | |
11 | g.70473252G>A | CA381676253 | SHANK2 | c.3400C>T (p.Pro1134Ser) c.945C>T (n.945C>T) c.5167C>T (p.Pro1723Ser) c.2676C>T c.4030C>T (p.Pro1344Ser) c.3457C>T (p.Pro1153Ser) c.3403C>T (p.Pro1135Ser) c.*171C>T (n.*171C>T) c.3379C>T (p.Pro1127Ser) c.943C>T c.3004C>T (p.Pro1002Ser) n.1919C>T n.1021C>T c.5137C>T (p.Pro1713Ser) c.5179C>T (p.Pro1727Ser) c.5158C>T (p.Pro1720Ser) c.5152C>T (p.Pro1718Ser) c.5131C>T (p.Pro1711Ser) c.4042C>T (p.Pro1348Ser) c.5140C>T (p.Pro1714Ser) n.1022C>T | |
11 | g.70473252G>C | CA381676254 | SHANK2 | c.3400C>G (p.Pro1134Ala) c.945C>G (n.945C>G) c.5167C>G (p.Pro1723Ala) c.2676C>G c.4030C>G (p.Pro1344Ala) c.3457C>G (p.Pro1153Ala) c.3403C>G (p.Pro1135Ala) c.*171C>G (n.*171C>G) c.3379C>G (p.Pro1127Ala) c.943C>G c.3004C>G (p.Pro1002Ala) n.1919C>G n.1021C>G c.5137C>G (p.Pro1713Ala) c.5179C>G (p.Pro1727Ala) c.5158C>G (p.Pro1720Ala) c.5152C>G (p.Pro1718Ala) c.5131C>G (p.Pro1711Ala) c.4042C>G (p.Pro1348Ala) c.5140C>G (p.Pro1714Ala) n.1022C>G | |
11 | g.70473252G>T | CA381676252 | SHANK2 | c.3400C>A (p.Pro1134Thr) c.945C>A (n.945C>A) c.5167C>A (p.Pro1723Thr) c.2676C>A c.4030C>A (p.Pro1344Thr) c.3457C>A (p.Pro1153Thr) c.3403C>A (p.Pro1135Thr) c.*171C>A (n.*171C>A) c.3379C>A (p.Pro1127Thr) c.943C>A c.3004C>A (p.Pro1002Thr) n.1919C>A n.1021C>A c.5137C>A (p.Pro1713Thr) c.5179C>A (p.Pro1727Thr) c.5158C>A (p.Pro1720Thr) c.5152C>A (p.Pro1718Thr) c.5131C>A (p.Pro1711Thr) c.4042C>A (p.Pro1348Thr) c.5140C>A (p.Pro1714Thr) n.1022C>A | gnomAD v4 |
11 | g.70473253C>A | CA475470685 | SHANK2 | c.3399G>T (p.Leu1133=) c.944G>T (n.944G>T) c.5166G>T (p.Leu1722=) c.2675G>T c.4029G>T (p.Leu1343=) c.3456G>T (p.Leu1152=) c.3402G>T (p.Leu1134=) c.*170G>T (n.*170G>T) c.3378G>T (p.Leu1126=) c.942G>T c.3003G>T (p.Leu1001=) n.1918G>T n.1020G>T c.5136G>T (p.Leu1712=) c.5178G>T (p.Leu1726=) c.5157G>T (p.Leu1719=) c.5151G>T (p.Leu1717=) c.5130G>T (p.Leu1710=) c.4041G>T (p.Leu1347=) c.5139G>T (p.Leu1713=) n.1021G>T | |
11 | g.70473253C>G | CA475470687 | SHANK2 | c.3399G>C (p.Leu1133=) c.944G>C (n.944G>C) c.5166G>C (p.Leu1722=) c.2675G>C c.4029G>C (p.Leu1343=) c.3456G>C (p.Leu1152=) c.3402G>C (p.Leu1134=) c.*170G>C (n.*170G>C) c.3378G>C (p.Leu1126=) c.942G>C c.3003G>C (p.Leu1001=) n.1918G>C n.1020G>C c.5136G>C (p.Leu1712=) c.5178G>C (p.Leu1726=) c.5157G>C (p.Leu1719=) c.5151G>C (p.Leu1717=) c.5130G>C (p.Leu1710=) c.4041G>C (p.Leu1347=) c.5139G>C (p.Leu1713=) n.1021G>C | |
11 | g.70473253C>T | CA475470688 | SHANK2 | c.3399G>A (p.Leu1133=) c.944G>A (n.944G>A) c.5166G>A (p.Leu1722=) c.2675G>A c.4029G>A (p.Leu1343=) c.3456G>A (p.Leu1152=) c.3402G>A (p.Leu1134=) c.*170G>A (n.*170G>A) c.3378G>A (p.Leu1126=) c.942G>A c.3003G>A (p.Leu1001=) n.1918G>A n.1020G>A c.5136G>A (p.Leu1712=) c.5178G>A (p.Leu1726=) c.5157G>A (p.Leu1719=) c.5151G>A (p.Leu1717=) c.5130G>A (p.Leu1710=) c.4041G>A (p.Leu1347=) c.5139G>A (p.Leu1713=) n.1021G>A | gnomAD v4 |
11 | g.70473254A= | CA1981067970 | SHANK2 | c.3398T= (p.Leu1133=) c.943T= (n.943T=) c.5165T= (p.Leu1722=) c.2674T= c.4028T= (p.Leu1343=) c.3455T= (p.Leu1152=) c.3401T= (p.Leu1134=) c.*169T= (n.*169T=) c.3377T= (p.Leu1126=) c.941T= c.3002T= (p.Leu1001=) n.1917T= n.1019T= c.5135T= (p.Leu1712=) c.5177T= (p.Leu1726=) c.5156T= (p.Leu1719=) c.5150T= (p.Leu1717=) c.5129T= (p.Leu1710=) c.4040T= (p.Leu1347=) c.5138T= (p.Leu1713=) n.1020T= | |
11 | g.70473254A>C | CA381676255 | SHANK2 | c.3398T>G (p.Leu1133Arg) c.943T>G (n.943T>G) c.5165T>G (p.Leu1722Arg) c.2674T>G c.4028T>G (p.Leu1343Arg) c.3455T>G (p.Leu1152Arg) c.3401T>G (p.Leu1134Arg) c.*169T>G (n.*169T>G) c.3377T>G (p.Leu1126Arg) c.941T>G c.3002T>G (p.Leu1001Arg) n.1917T>G n.1019T>G c.5135T>G (p.Leu1712Arg) c.5177T>G (p.Leu1726Arg) c.5156T>G (p.Leu1719Arg) c.5150T>G (p.Leu1717Arg) c.5129T>G (p.Leu1710Arg) c.4040T>G (p.Leu1347Arg) c.5138T>G (p.Leu1713Arg) n.1020T>G | |
11 | g.70473254A>G | CA6160757 | SHANK2 | c.3398T>C (p.Leu1133Pro) c.943T>C (n.943T>C) c.5165T>C (p.Leu1722Pro) c.2674T>C c.4028T>C (p.Leu1343Pro) c.3455T>C (p.Leu1152Pro) c.3401T>C (p.Leu1134Pro) c.*169T>C (n.*169T>C) c.3377T>C (p.Leu1126Pro) c.941T>C c.3002T>C (p.Leu1001Pro) n.1917T>C n.1019T>C c.5135T>C (p.Leu1712Pro) c.5177T>C (p.Leu1726Pro) c.5156T>C (p.Leu1719Pro) c.5150T>C (p.Leu1717Pro) c.5129T>C (p.Leu1710Pro) c.4040T>C (p.Leu1347Pro) c.5138T>C (p.Leu1713Pro) n.1020T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473254A>T | CA381676256 | SHANK2 | c.3398T>A (p.Leu1133Gln) c.943T>A (n.943T>A) c.5165T>A (p.Leu1722Gln) c.2674T>A c.4028T>A (p.Leu1343Gln) c.3455T>A (p.Leu1152Gln) c.3401T>A (p.Leu1134Gln) c.*169T>A (n.*169T>A) c.3377T>A (p.Leu1126Gln) c.941T>A c.3002T>A (p.Leu1001Gln) n.1917T>A n.1019T>A c.5135T>A (p.Leu1712Gln) c.5177T>A (p.Leu1726Gln) c.5156T>A (p.Leu1719Gln) c.5150T>A (p.Leu1717Gln) c.5129T>A (p.Leu1710Gln) c.4040T>A (p.Leu1347Gln) c.5138T>A (p.Leu1713Gln) n.1020T>A | |
11 | g.70473255G>A | CA475470692 | SHANK2 | c.3397C>T (p.Leu1133=) c.942C>T (n.942C>T) c.5164C>T (p.Leu1722=) c.2673C>T c.4027C>T (p.Leu1343=) c.3454C>T (p.Leu1152=) c.3400C>T (p.Leu1134=) c.*168C>T (n.*168C>T) c.3376C>T (p.Leu1126=) c.940C>T c.3001C>T (p.Leu1001=) n.1916C>T n.1018C>T c.5134C>T (p.Leu1712=) c.5176C>T (p.Leu1726=) c.5155C>T (p.Leu1719=) c.5149C>T (p.Leu1717=) c.5128C>T (p.Leu1710=) c.4039C>T (p.Leu1347=) c.5137C>T (p.Leu1713=) n.1019C>T | gnomAD v4 |
11 | g.70473255G>C | CA381676257 | SHANK2 | c.3397C>G (p.Leu1133Val) c.942C>G (n.942C>G) c.5164C>G (p.Leu1722Val) c.2673C>G c.4027C>G (p.Leu1343Val) c.3454C>G (p.Leu1152Val) c.3400C>G (p.Leu1134Val) c.*168C>G (n.*168C>G) c.3376C>G (p.Leu1126Val) c.940C>G c.3001C>G (p.Leu1001Val) n.1916C>G n.1018C>G c.5134C>G (p.Leu1712Val) c.5176C>G (p.Leu1726Val) c.5155C>G (p.Leu1719Val) c.5149C>G (p.Leu1717Val) c.5128C>G (p.Leu1710Val) c.4039C>G (p.Leu1347Val) c.5137C>G (p.Leu1713Val) n.1019C>G | |
11 | g.70473255G>T | CA381676258 | SHANK2 | c.3397C>A (p.Leu1133Met) c.942C>A (n.942C>A) c.5164C>A (p.Leu1722Met) c.2673C>A c.4027C>A (p.Leu1343Met) c.3454C>A (p.Leu1152Met) c.3400C>A (p.Leu1134Met) c.*168C>A (n.*168C>A) c.3376C>A (p.Leu1126Met) c.940C>A c.3001C>A (p.Leu1001Met) n.1916C>A n.1018C>A c.5134C>A (p.Leu1712Met) c.5176C>A (p.Leu1726Met) c.5155C>A (p.Leu1719Met) c.5149C>A (p.Leu1717Met) c.5128C>A (p.Leu1710Met) c.4039C>A (p.Leu1347Met) c.5137C>A (p.Leu1713Met) n.1019C>A | |
11 | g.70473256G>A | CA475470693 | SHANK2 | c.3396C>T (p.Thr1132=) c.941C>T (n.941C>T) c.5163C>T (p.Thr1721=) c.2672C>T c.4026C>T (p.Thr1342=) c.3453C>T (p.Thr1151=) c.3399C>T (p.Thr1133=) c.*167C>T (n.*167C>T) c.3375C>T (p.Thr1125=) c.939C>T c.3000C>T (p.Thr1000=) n.1915C>T n.1017C>T c.5133C>T (p.Thr1711=) c.5175C>T (p.Thr1725=) c.5154C>T (p.Thr1718=) c.5148C>T (p.Thr1716=) c.5127C>T (p.Thr1709=) c.4038C>T (p.Thr1346=) c.5136C>T (p.Thr1712=) n.1018C>T | |
11 | g.70473256G>C | CA475470694 | SHANK2 | c.3396C>G (p.Thr1132=) c.941C>G (n.941C>G) c.5163C>G (p.Thr1721=) c.2672C>G c.4026C>G (p.Thr1342=) c.3453C>G (p.Thr1151=) c.3399C>G (p.Thr1133=) c.*167C>G (n.*167C>G) c.3375C>G (p.Thr1125=) c.939C>G c.3000C>G (p.Thr1000=) n.1915C>G n.1017C>G c.5133C>G (p.Thr1711=) c.5175C>G (p.Thr1725=) c.5154C>G (p.Thr1718=) c.5148C>G (p.Thr1716=) c.5127C>G (p.Thr1709=) c.4038C>G (p.Thr1346=) c.5136C>G (p.Thr1712=) n.1018C>G | |
11 | g.70473256G>T | CA475470695 | SHANK2 | c.3396C>A (p.Thr1132=) c.941C>A (n.941C>A) c.5163C>A (p.Thr1721=) c.2672C>A c.4026C>A (p.Thr1342=) c.3453C>A (p.Thr1151=) c.3399C>A (p.Thr1133=) c.*167C>A (n.*167C>A) c.3375C>A (p.Thr1125=) c.939C>A c.3000C>A (p.Thr1000=) n.1915C>A n.1017C>A c.5133C>A (p.Thr1711=) c.5175C>A (p.Thr1725=) c.5154C>A (p.Thr1718=) c.5148C>A (p.Thr1716=) c.5127C>A (p.Thr1709=) c.4038C>A (p.Thr1346=) c.5136C>A (p.Thr1712=) n.1018C>A | |
11 | g.70473257G>A | CA381676259 | SHANK2 | c.3395C>T (p.Thr1132Ile) c.940C>T (n.940C>T) c.5162C>T (p.Thr1721Ile) c.2671C>T c.4025C>T (p.Thr1342Ile) c.3452C>T (p.Thr1151Ile) c.3398C>T (p.Thr1133Ile) c.*166C>T (n.*166C>T) c.3374C>T (p.Thr1125Ile) c.938C>T c.2999C>T (p.Thr1000Ile) n.1914C>T n.1016C>T c.5132C>T (p.Thr1711Ile) c.5174C>T (p.Thr1725Ile) c.5153C>T (p.Thr1718Ile) c.5147C>T (p.Thr1716Ile) c.5126C>T (p.Thr1709Ile) c.4037C>T (p.Thr1346Ile) c.5135C>T (p.Thr1712Ile) n.1017C>T | |
11 | g.70473257G>C | CA381676260 | SHANK2 | c.3395C>G (p.Thr1132Ser) c.940C>G (n.940C>G) c.5162C>G (p.Thr1721Ser) c.2671C>G c.4025C>G (p.Thr1342Ser) c.3452C>G (p.Thr1151Ser) c.3398C>G (p.Thr1133Ser) c.*166C>G (n.*166C>G) c.3374C>G (p.Thr1125Ser) c.938C>G c.2999C>G (p.Thr1000Ser) n.1914C>G n.1016C>G c.5132C>G (p.Thr1711Ser) c.5174C>G (p.Thr1725Ser) c.5153C>G (p.Thr1718Ser) c.5147C>G (p.Thr1716Ser) c.5126C>G (p.Thr1709Ser) c.4037C>G (p.Thr1346Ser) c.5135C>G (p.Thr1712Ser) n.1017C>G | |
11 | g.70473257G= | CA1981067971 | SHANK2 | c.3395C= (p.Thr1132=) c.940C= (n.940C=) c.5162C= (p.Thr1721=) c.2671C= c.4025C= (p.Thr1342=) c.3452C= (p.Thr1151=) c.3398C= (p.Thr1133=) c.*166C= (n.*166C=) c.3374C= (p.Thr1125=) c.938C= c.2999C= (p.Thr1000=) n.1914C= n.1016C= c.5132C= (p.Thr1711=) c.5174C= (p.Thr1725=) c.5153C= (p.Thr1718=) c.5147C= (p.Thr1716=) c.5126C= (p.Thr1709=) c.4037C= (p.Thr1346=) c.5135C= (p.Thr1712=) n.1017C= | |
11 | g.70473257G>T | CA381676261 | SHANK2 | c.3395C>A (p.Thr1132Asn) c.940C>A (n.940C>A) c.5162C>A (p.Thr1721Asn) c.2671C>A c.4025C>A (p.Thr1342Asn) c.3452C>A (p.Thr1151Asn) c.3398C>A (p.Thr1133Asn) c.*166C>A (n.*166C>A) c.3374C>A (p.Thr1125Asn) c.938C>A c.2999C>A (p.Thr1000Asn) n.1914C>A n.1016C>A c.5132C>A (p.Thr1711Asn) c.5174C>A (p.Thr1725Asn) c.5153C>A (p.Thr1718Asn) c.5147C>A (p.Thr1716Asn) c.5126C>A (p.Thr1709Asn) c.4037C>A (p.Thr1346Asn) c.5135C>A (p.Thr1712Asn) n.1017C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.70473258T>A | CA381676262 | SHANK2 | c.3394A>T (p.Thr1132Ser) c.939A>T (n.939A>T) c.5161A>T (p.Thr1721Ser) c.2670A>T c.4024A>T (p.Thr1342Ser) c.3451A>T (p.Thr1151Ser) c.3397A>T (p.Thr1133Ser) c.*165A>T (n.*165A>T) c.3373A>T (p.Thr1125Ser) c.937A>T c.2998A>T (p.Thr1000Ser) n.1913A>T n.1015A>T c.5131A>T (p.Thr1711Ser) c.5173A>T (p.Thr1725Ser) c.5152A>T (p.Thr1718Ser) c.5146A>T (p.Thr1716Ser) c.5125A>T (p.Thr1709Ser) c.4036A>T (p.Thr1346Ser) c.5134A>T (p.Thr1712Ser) n.1016A>T | |
11 | g.70473258T>C | CA381676263 | SHANK2 | c.3394A>G (p.Thr1132Ala) c.939A>G (n.939A>G) c.5161A>G (p.Thr1721Ala) c.2670A>G c.4024A>G (p.Thr1342Ala) c.3451A>G (p.Thr1151Ala) c.3397A>G (p.Thr1133Ala) c.*165A>G (n.*165A>G) c.3373A>G (p.Thr1125Ala) c.937A>G c.2998A>G (p.Thr1000Ala) n.1913A>G n.1015A>G c.5131A>G (p.Thr1711Ala) c.5173A>G (p.Thr1725Ala) c.5152A>G (p.Thr1718Ala) c.5146A>G (p.Thr1716Ala) c.5125A>G (p.Thr1709Ala) c.4036A>G (p.Thr1346Ala) c.5134A>G (p.Thr1712Ala) n.1016A>G | |
11 | g.70473258T>G | CA381676264 | SHANK2 | c.3394A>C (p.Thr1132Pro) c.939A>C (n.939A>C) c.5161A>C (p.Thr1721Pro) c.2670A>C c.4024A>C (p.Thr1342Pro) c.3451A>C (p.Thr1151Pro) c.3397A>C (p.Thr1133Pro) c.*165A>C (n.*165A>C) c.3373A>C (p.Thr1125Pro) c.937A>C c.2998A>C (p.Thr1000Pro) n.1913A>C n.1015A>C c.5131A>C (p.Thr1711Pro) c.5173A>C (p.Thr1725Pro) c.5152A>C (p.Thr1718Pro) c.5146A>C (p.Thr1716Pro) c.5125A>C (p.Thr1709Pro) c.4036A>C (p.Thr1346Pro) c.5134A>C (p.Thr1712Pro) n.1016A>C | |
11 | g.70473259C>A | CA381676265 | SHANK2 | c.3393G>T (p.Glu1131Asp) c.938G>T (n.938G>T) c.5160G>T (p.Glu1720Asp) c.2669G>T c.4023G>T (p.Glu1341Asp) c.3450G>T (p.Glu1150Asp) c.3396G>T (p.Glu1132Asp) c.*164G>T (n.*164G>T) c.3372G>T (p.Glu1124Asp) c.936G>T c.2997G>T (p.Glu999Asp) n.1912G>T n.1014G>T c.5130G>T (p.Glu1710Asp) c.5172G>T (p.Glu1724Asp) c.5151G>T (p.Glu1717Asp) c.5145G>T (p.Glu1715Asp) c.5124G>T (p.Glu1708Asp) c.4035G>T (p.Glu1345Asp) c.5133G>T (p.Glu1711Asp) n.1015G>T | |
11 | g.70473259C>G | CA381676266 | SHANK2 | c.3393G>C (p.Glu1131Asp) c.938G>C (n.938G>C) c.5160G>C (p.Glu1720Asp) c.2669G>C c.4023G>C (p.Glu1341Asp) c.3450G>C (p.Glu1150Asp) c.3396G>C (p.Glu1132Asp) c.*164G>C (n.*164G>C) c.3372G>C (p.Glu1124Asp) c.936G>C c.2997G>C (p.Glu999Asp) n.1912G>C n.1014G>C c.5130G>C (p.Glu1710Asp) c.5172G>C (p.Glu1724Asp) c.5151G>C (p.Glu1717Asp) c.5145G>C (p.Glu1715Asp) c.5124G>C (p.Glu1708Asp) c.4035G>C (p.Glu1345Asp) c.5133G>C (p.Glu1711Asp) n.1015G>C | |
11 | g.70473259C>T | CA475470700 | SHANK2 | c.3393G>A (p.Glu1131=) c.938G>A (n.938G>A) c.5160G>A (p.Glu1720=) c.2669G>A c.4023G>A (p.Glu1341=) c.3450G>A (p.Glu1150=) c.3396G>A (p.Glu1132=) c.*164G>A (n.*164G>A) c.3372G>A (p.Glu1124=) c.936G>A c.2997G>A (p.Glu999=) n.1912G>A n.1014G>A c.5130G>A (p.Glu1710=) c.5172G>A (p.Glu1724=) c.5151G>A (p.Glu1717=) c.5145G>A (p.Glu1715=) c.5124G>A (p.Glu1708=) c.4035G>A (p.Glu1345=) c.5133G>A (p.Glu1711=) n.1015G>A | |
11 | g.70473260T>A | CA381676267 | SHANK2 | c.3392A>T (p.Glu1131Val) c.937A>T (n.937A>T) c.5159A>T (p.Glu1720Val) c.2668A>T c.4022A>T (p.Glu1341Val) c.3449A>T (p.Glu1150Val) c.3395A>T (p.Glu1132Val) c.*163A>T (n.*163A>T) c.3371A>T (p.Glu1124Val) c.935A>T c.2996A>T (p.Glu999Val) n.1911A>T n.1013A>T c.5129A>T (p.Glu1710Val) c.5171A>T (p.Glu1724Val) c.5150A>T (p.Glu1717Val) c.5144A>T (p.Glu1715Val) c.5123A>T (p.Glu1708Val) c.4034A>T (p.Glu1345Val) c.5132A>T (p.Glu1711Val) n.1014A>T | |
11 | g.70473260T>C | CA381676268 | SHANK2 | c.3392A>G (p.Glu1131Gly) c.937A>G (n.937A>G) c.5159A>G (p.Glu1720Gly) c.2668A>G c.4022A>G (p.Glu1341Gly) c.3449A>G (p.Glu1150Gly) c.3395A>G (p.Glu1132Gly) c.*163A>G (n.*163A>G) c.3371A>G (p.Glu1124Gly) c.935A>G c.2996A>G (p.Glu999Gly) n.1911A>G n.1013A>G c.5129A>G (p.Glu1710Gly) c.5171A>G (p.Glu1724Gly) c.5150A>G (p.Glu1717Gly) c.5144A>G (p.Glu1715Gly) c.5123A>G (p.Glu1708Gly) c.4034A>G (p.Glu1345Gly) c.5132A>G (p.Glu1711Gly) n.1014A>G | |
11 | g.70473260T>G | CA381676269 | SHANK2 | c.3392A>C (p.Glu1131Ala) c.937A>C (n.937A>C) c.5159A>C (p.Glu1720Ala) c.2668A>C c.4022A>C (p.Glu1341Ala) c.3449A>C (p.Glu1150Ala) c.3395A>C (p.Glu1132Ala) c.*163A>C (n.*163A>C) c.3371A>C (p.Glu1124Ala) c.935A>C c.2996A>C (p.Glu999Ala) n.1911A>C n.1013A>C c.5129A>C (p.Glu1710Ala) c.5171A>C (p.Glu1724Ala) c.5150A>C (p.Glu1717Ala) c.5144A>C (p.Glu1715Ala) c.5123A>C (p.Glu1708Ala) c.4034A>C (p.Glu1345Ala) c.5132A>C (p.Glu1711Ala) n.1014A>C | |
11 | g.70473261C>A | CA381676270 | SHANK2 | c.3391G>T (p.Glu1131Ter) c.936G>T (n.936G>T) c.5158G>T (p.Glu1720Ter) c.2667G>T c.4021G>T (p.Glu1341Ter) c.3448G>T (p.Glu1150Ter) c.3394G>T (p.Glu1132Ter) c.*162G>T (n.*162G>T) c.3370G>T (p.Glu1124Ter) c.934G>T c.2995G>T (p.Glu999Ter) n.1910G>T n.1012G>T c.5128G>T (p.Glu1710Ter) c.5170G>T (p.Glu1724Ter) c.5149G>T (p.Glu1717Ter) c.5143G>T (p.Glu1715Ter) c.5122G>T (p.Glu1708Ter) c.4033G>T (p.Glu1345Ter) c.5131G>T (p.Glu1711Ter) n.1013G>T | |
11 | g.70473261C>G | CA381676272 | SHANK2 | c.3391G>C (p.Glu1131Gln) c.936G>C (n.936G>C) c.5158G>C (p.Glu1720Gln) c.2667G>C c.4021G>C (p.Glu1341Gln) c.3448G>C (p.Glu1150Gln) c.3394G>C (p.Glu1132Gln) c.*162G>C (n.*162G>C) c.3370G>C (p.Glu1124Gln) c.934G>C c.2995G>C (p.Glu999Gln) n.1910G>C n.1012G>C c.5128G>C (p.Glu1710Gln) c.5170G>C (p.Glu1724Gln) c.5149G>C (p.Glu1717Gln) c.5143G>C (p.Glu1715Gln) c.5122G>C (p.Glu1708Gln) c.4033G>C (p.Glu1345Gln) c.5131G>C (p.Glu1711Gln) n.1013G>C | |
11 | g.70473261C>T | CA381676271 | SHANK2 | c.3391G>A (p.Glu1131Lys) c.936G>A (n.936G>A) c.5158G>A (p.Glu1720Lys) c.2667G>A c.4021G>A (p.Glu1341Lys) c.3448G>A (p.Glu1150Lys) c.3394G>A (p.Glu1132Lys) c.*162G>A (n.*162G>A) c.3370G>A (p.Glu1124Lys) c.934G>A c.2995G>A (p.Glu999Lys) n.1910G>A n.1012G>A c.5128G>A (p.Glu1710Lys) c.5170G>A (p.Glu1724Lys) c.5149G>A (p.Glu1717Lys) c.5143G>A (p.Glu1715Lys) c.5122G>A (p.Glu1708Lys) c.4033G>A (p.Glu1345Lys) c.5131G>A (p.Glu1711Lys) n.1013G>A | |
11 | g.70473262T>A | CA381676273 | SHANK2 | c.3390A>T (p.Lys1130Asn) c.935A>T (n.935A>T) c.5157A>T (p.Lys1719Asn) c.2666A>T c.4020A>T (p.Lys1340Asn) c.3447A>T (p.Lys1149Asn) c.3393A>T (p.Lys1131Asn) c.*161A>T (n.*161A>T) c.3369A>T (p.Lys1123Asn) c.933A>T c.2994A>T (p.Lys998Asn) n.1909A>T n.1011A>T c.5127A>T (p.Lys1709Asn) c.5169A>T (p.Lys1723Asn) c.5148A>T (p.Lys1716Asn) c.5142A>T (p.Lys1714Asn) c.5121A>T (p.Lys1707Asn) c.4032A>T (p.Lys1344Asn) c.5130A>T (p.Lys1710Asn) n.1012A>T | |
11 | g.70473262T>C | CA475470701 | SHANK2 | c.3390A>G (p.Lys1130=) c.935A>G (n.935A>G) c.5157A>G (p.Lys1719=) c.2666A>G c.4020A>G (p.Lys1340=) c.3447A>G (p.Lys1149=) c.3393A>G (p.Lys1131=) c.*161A>G (n.*161A>G) c.3369A>G (p.Lys1123=) c.933A>G c.2994A>G (p.Lys998=) n.1909A>G n.1011A>G c.5127A>G (p.Lys1709=) c.5169A>G (p.Lys1723=) c.5148A>G (p.Lys1716=) c.5142A>G (p.Lys1714=) c.5121A>G (p.Lys1707=) c.4032A>G (p.Lys1344=) c.5130A>G (p.Lys1710=) n.1012A>G | |
11 | g.70473262T>G | CA381676274 | SHANK2 | c.3390A>C (p.Lys1130Asn) c.935A>C (n.935A>C) c.5157A>C (p.Lys1719Asn) c.2666A>C c.4020A>C (p.Lys1340Asn) c.3447A>C (p.Lys1149Asn) c.3393A>C (p.Lys1131Asn) c.*161A>C (n.*161A>C) c.3369A>C (p.Lys1123Asn) c.933A>C c.2994A>C (p.Lys998Asn) n.1909A>C n.1011A>C c.5127A>C (p.Lys1709Asn) c.5169A>C (p.Lys1723Asn) c.5148A>C (p.Lys1716Asn) c.5142A>C (p.Lys1714Asn) c.5121A>C (p.Lys1707Asn) c.4032A>C (p.Lys1344Asn) c.5130A>C (p.Lys1710Asn) n.1012A>C | |
11 | g.70473263T>A | CA381676275 | SHANK2 | c.3389A>T (p.Lys1130Ile) c.934A>T (n.934A>T) c.5156A>T (p.Lys1719Ile) c.2665A>T c.4019A>T (p.Lys1340Ile) c.3446A>T (p.Lys1149Ile) c.3392A>T (p.Lys1131Ile) c.*160A>T (n.*160A>T) c.3368A>T (p.Lys1123Ile) c.932A>T c.2993A>T (p.Lys998Ile) n.1908A>T n.1010A>T c.5126A>T (p.Lys1709Ile) c.5168A>T (p.Lys1723Ile) c.5147A>T (p.Lys1716Ile) c.5141A>T (p.Lys1714Ile) c.5120A>T (p.Lys1707Ile) c.4031A>T (p.Lys1344Ile) c.5129A>T (p.Lys1710Ile) n.1011A>T | |
11 | g.70473263T>C | CA381676276 | SHANK2 | c.3389A>G (p.Lys1130Arg) c.934A>G (n.934A>G) c.5156A>G (p.Lys1719Arg) c.2665A>G c.4019A>G (p.Lys1340Arg) c.3446A>G (p.Lys1149Arg) c.3392A>G (p.Lys1131Arg) c.*160A>G (n.*160A>G) c.3368A>G (p.Lys1123Arg) c.932A>G c.2993A>G (p.Lys998Arg) n.1908A>G n.1010A>G c.5126A>G (p.Lys1709Arg) c.5168A>G (p.Lys1723Arg) c.5147A>G (p.Lys1716Arg) c.5141A>G (p.Lys1714Arg) c.5120A>G (p.Lys1707Arg) c.4031A>G (p.Lys1344Arg) c.5129A>G (p.Lys1710Arg) n.1011A>G | |
11 | g.70473263T>G | CA6160758 | SHANK2 | c.3389A>C (p.Lys1130Thr) c.934A>C (n.934A>C) c.5156A>C (p.Lys1719Thr) c.2665A>C c.4019A>C (p.Lys1340Thr) c.3446A>C (p.Lys1149Thr) c.3392A>C (p.Lys1131Thr) c.*160A>C (n.*160A>C) c.3368A>C (p.Lys1123Thr) c.932A>C c.2993A>C (p.Lys998Thr) n.1908A>C n.1010A>C c.5126A>C (p.Lys1709Thr) c.5168A>C (p.Lys1723Thr) c.5147A>C (p.Lys1716Thr) c.5141A>C (p.Lys1714Thr) c.5120A>C (p.Lys1707Thr) c.4031A>C (p.Lys1344Thr) c.5129A>C (p.Lys1710Thr) n.1011A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473263T= | CA1981067972 | SHANK2 | c.3389A= (p.Lys1130=) c.934A= (n.934A=) c.5156A= (p.Lys1719=) c.2665A= c.4019A= (p.Lys1340=) c.3446A= (p.Lys1149=) c.3392A= (p.Lys1131=) c.*160A= (n.*160A=) c.3368A= (p.Lys1123=) c.932A= c.2993A= (p.Lys998=) n.1908A= n.1010A= c.5126A= (p.Lys1709=) c.5168A= (p.Lys1723=) c.5147A= (p.Lys1716=) c.5141A= (p.Lys1714=) c.5120A= (p.Lys1707=) c.4031A= (p.Lys1344=) c.5129A= (p.Lys1710=) n.1011A= | |
11 | g.70473264T>A | CA381676277 | SHANK2 | c.3388A>T (p.Lys1130Ter) c.933A>T (n.933A>T) c.5155A>T (p.Lys1719Ter) c.2664A>T c.4018A>T (p.Lys1340Ter) c.3445A>T (p.Lys1149Ter) c.3391A>T (p.Lys1131Ter) c.*159A>T (n.*159A>T) c.3367A>T (p.Lys1123Ter) c.931A>T c.2992A>T (p.Lys998Ter) n.1907A>T n.1009A>T c.5125A>T (p.Lys1709Ter) c.5167A>T (p.Lys1723Ter) c.5146A>T (p.Lys1716Ter) c.5140A>T (p.Lys1714Ter) c.5119A>T (p.Lys1707Ter) c.4030A>T (p.Lys1344Ter) c.5128A>T (p.Lys1710Ter) n.1010A>T | |
11 | g.70473264T>C | CA381676278 | SHANK2 | c.3388A>G (p.Lys1130Glu) c.933A>G (n.933A>G) c.5155A>G (p.Lys1719Glu) c.2664A>G c.4018A>G (p.Lys1340Glu) c.3445A>G (p.Lys1149Glu) c.3391A>G (p.Lys1131Glu) c.*159A>G (n.*159A>G) c.3367A>G (p.Lys1123Glu) c.931A>G c.2992A>G (p.Lys998Glu) n.1907A>G n.1009A>G c.5125A>G (p.Lys1709Glu) c.5167A>G (p.Lys1723Glu) c.5146A>G (p.Lys1716Glu) c.5140A>G (p.Lys1714Glu) c.5119A>G (p.Lys1707Glu) c.4030A>G (p.Lys1344Glu) c.5128A>G (p.Lys1710Glu) n.1010A>G | |
11 | g.70473264T>G | CA381676279 | SHANK2 | c.3388A>C (p.Lys1130Gln) c.933A>C (n.933A>C) c.5155A>C (p.Lys1719Gln) c.2664A>C c.4018A>C (p.Lys1340Gln) c.3445A>C (p.Lys1149Gln) c.3391A>C (p.Lys1131Gln) c.*159A>C (n.*159A>C) c.3367A>C (p.Lys1123Gln) c.931A>C c.2992A>C (p.Lys998Gln) n.1907A>C n.1009A>C c.5125A>C (p.Lys1709Gln) c.5167A>C (p.Lys1723Gln) c.5146A>C (p.Lys1716Gln) c.5140A>C (p.Lys1714Gln) c.5119A>C (p.Lys1707Gln) c.4030A>C (p.Lys1344Gln) c.5128A>C (p.Lys1710Gln) n.1010A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.70473264T= | CA1981067973 | SHANK2 | c.3388A= (p.Lys1130=) c.933A= (n.933A=) c.5155A= (p.Lys1719=) c.2664A= c.4018A= (p.Lys1340=) c.3445A= (p.Lys1149=) c.3391A= (p.Lys1131=) c.*159A= (n.*159A=) c.3367A= (p.Lys1123=) c.931A= c.2992A= (p.Lys998=) n.1907A= n.1009A= c.5125A= (p.Lys1709=) c.5167A= (p.Lys1723=) c.5146A= (p.Lys1716=) c.5140A= (p.Lys1714=) c.5119A= (p.Lys1707=) c.4030A= (p.Lys1344=) c.5128A= (p.Lys1710=) n.1010A= | |
11 | g.70473265G>A | CA475470704 | SHANK2 | c.3387C>T (p.Asn1129=) c.932C>T (n.932C>T) c.5154C>T (p.Asn1718=) c.2663C>T c.4017C>T (p.Asn1339=) c.3444C>T (p.Asn1148=) c.3390C>T (p.Asn1130=) c.*158C>T (n.*158C>T) c.3366C>T (p.Asn1122=) c.930C>T c.2991C>T (p.Asn997=) n.1906C>T n.1008C>T c.5124C>T (p.Asn1708=) c.5166C>T (p.Asn1722=) c.5145C>T (p.Asn1715=) c.5139C>T (p.Asn1713=) c.5118C>T (p.Asn1706=) c.4029C>T (p.Asn1343=) c.5127C>T (p.Asn1709=) n.1009C>T | gnomAD v4 |
11 | g.70473265G>C | CA381676280 | SHANK2 | c.3387C>G (p.Asn1129Lys) c.932C>G (n.932C>G) c.5154C>G (p.Asn1718Lys) c.2663C>G c.4017C>G (p.Asn1339Lys) c.3444C>G (p.Asn1148Lys) c.3390C>G (p.Asn1130Lys) c.*158C>G (n.*158C>G) c.3366C>G (p.Asn1122Lys) c.930C>G c.2991C>G (p.Asn997Lys) n.1906C>G n.1008C>G c.5124C>G (p.Asn1708Lys) c.5166C>G (p.Asn1722Lys) c.5145C>G (p.Asn1715Lys) c.5139C>G (p.Asn1713Lys) c.5118C>G (p.Asn1706Lys) c.4029C>G (p.Asn1343Lys) c.5127C>G (p.Asn1709Lys) n.1009C>G | |
11 | g.70473265G= | CA1981067974 | SHANK2 | c.3387C= (p.Asn1129=) c.932C= (n.932C=) c.5154C= (p.Asn1718=) c.2663C= c.4017C= (p.Asn1339=) c.3444C= (p.Asn1148=) c.3390C= (p.Asn1130=) c.*158C= (n.*158C=) c.3366C= (p.Asn1122=) c.930C= c.2991C= (p.Asn997=) n.1906C= n.1008C= c.5124C= (p.Asn1708=) c.5166C= (p.Asn1722=) c.5145C= (p.Asn1715=) c.5139C= (p.Asn1713=) c.5118C= (p.Asn1706=) c.4029C= (p.Asn1343=) c.5127C= (p.Asn1709=) n.1009C= | |
11 | g.70473265G>T | CA6160759 | SHANK2 | c.3387C>A (p.Asn1129Lys) c.932C>A (n.932C>A) c.5154C>A (p.Asn1718Lys) c.2663C>A c.4017C>A (p.Asn1339Lys) c.3444C>A (p.Asn1148Lys) c.3390C>A (p.Asn1130Lys) c.*158C>A (n.*158C>A) c.3366C>A (p.Asn1122Lys) c.930C>A c.2991C>A (p.Asn997Lys) n.1906C>A n.1008C>A c.5124C>A (p.Asn1708Lys) c.5166C>A (p.Asn1722Lys) c.5145C>A (p.Asn1715Lys) c.5139C>A (p.Asn1713Lys) c.5118C>A (p.Asn1706Lys) c.4029C>A (p.Asn1343Lys) c.5127C>A (p.Asn1709Lys) n.1009C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473266T>A | CA381676282 | SHANK2 | c.3386A>T (p.Asn1129Ile) c.931A>T (n.931A>T) c.5153A>T (p.Asn1718Ile) c.2662A>T c.4016A>T (p.Asn1339Ile) c.3443A>T (p.Asn1148Ile) c.3389A>T (p.Asn1130Ile) c.*157A>T (n.*157A>T) c.3365A>T (p.Asn1122Ile) c.929A>T c.2990A>T (p.Asn997Ile) n.1905A>T n.1007A>T c.5123A>T (p.Asn1708Ile) c.5165A>T (p.Asn1722Ile) c.5144A>T (p.Asn1715Ile) c.5138A>T (p.Asn1713Ile) c.5117A>T (p.Asn1706Ile) c.4028A>T (p.Asn1343Ile) c.5126A>T (p.Asn1709Ile) n.1008A>T | |
11 | g.70473266T>C | CA381676283 | SHANK2 | c.3386A>G (p.Asn1129Ser) c.931A>G (n.931A>G) c.5153A>G (p.Asn1718Ser) c.2662A>G c.4016A>G (p.Asn1339Ser) c.3443A>G (p.Asn1148Ser) c.3389A>G (p.Asn1130Ser) c.*157A>G (n.*157A>G) c.3365A>G (p.Asn1122Ser) c.929A>G c.2990A>G (p.Asn997Ser) n.1905A>G n.1007A>G c.5123A>G (p.Asn1708Ser) c.5165A>G (p.Asn1722Ser) c.5144A>G (p.Asn1715Ser) c.5138A>G (p.Asn1713Ser) c.5117A>G (p.Asn1706Ser) c.4028A>G (p.Asn1343Ser) c.5126A>G (p.Asn1709Ser) n.1008A>G | |
11 | g.70473266T>G | CA381676281 | SHANK2 | c.3386A>C (p.Asn1129Thr) c.931A>C (n.931A>C) c.5153A>C (p.Asn1718Thr) c.2662A>C c.4016A>C (p.Asn1339Thr) c.3443A>C (p.Asn1148Thr) c.3389A>C (p.Asn1130Thr) c.*157A>C (n.*157A>C) c.3365A>C (p.Asn1122Thr) c.929A>C c.2990A>C (p.Asn997Thr) n.1905A>C n.1007A>C c.5123A>C (p.Asn1708Thr) c.5165A>C (p.Asn1722Thr) c.5144A>C (p.Asn1715Thr) c.5138A>C (p.Asn1713Thr) c.5117A>C (p.Asn1706Thr) c.4028A>C (p.Asn1343Thr) c.5126A>C (p.Asn1709Thr) n.1008A>C | |
11 | g.70473267T>A | CA381676284 | SHANK2 | c.3385A>T (p.Asn1129Tyr) c.930A>T (n.930A>T) c.5152A>T (p.Asn1718Tyr) c.2661A>T c.4015A>T (p.Asn1339Tyr) c.3442A>T (p.Asn1148Tyr) c.3388A>T (p.Asn1130Tyr) c.*156A>T (n.*156A>T) c.3364A>T (p.Asn1122Tyr) c.928A>T c.2989A>T (p.Asn997Tyr) n.1904A>T n.1006A>T c.5122A>T (p.Asn1708Tyr) c.5164A>T (p.Asn1722Tyr) c.5143A>T (p.Asn1715Tyr) c.5137A>T (p.Asn1713Tyr) c.5116A>T (p.Asn1706Tyr) c.4027A>T (p.Asn1343Tyr) c.5125A>T (p.Asn1709Tyr) n.1007A>T | |
11 | g.70473267T>C | CA381676285 | SHANK2 | c.3385A>G (p.Asn1129Asp) c.930A>G (n.930A>G) c.5152A>G (p.Asn1718Asp) c.2661A>G c.4015A>G (p.Asn1339Asp) c.3442A>G (p.Asn1148Asp) c.3388A>G (p.Asn1130Asp) c.*156A>G (n.*156A>G) c.3364A>G (p.Asn1122Asp) c.928A>G c.2989A>G (p.Asn997Asp) n.1904A>G n.1006A>G c.5122A>G (p.Asn1708Asp) c.5164A>G (p.Asn1722Asp) c.5143A>G (p.Asn1715Asp) c.5137A>G (p.Asn1713Asp) c.5116A>G (p.Asn1706Asp) c.4027A>G (p.Asn1343Asp) c.5125A>G (p.Asn1709Asp) n.1007A>G | |
11 | g.70473267T>G | CA381676286 | SHANK2 | c.3385A>C (p.Asn1129His) c.930A>C (n.930A>C) c.5152A>C (p.Asn1718His) c.2661A>C c.4015A>C (p.Asn1339His) c.3442A>C (p.Asn1148His) c.3388A>C (p.Asn1130His) c.*156A>C (n.*156A>C) c.3364A>C (p.Asn1122His) c.928A>C c.2989A>C (p.Asn997His) n.1904A>C n.1006A>C c.5122A>C (p.Asn1708His) c.5164A>C (p.Asn1722His) c.5143A>C (p.Asn1715His) c.5137A>C (p.Asn1713His) c.5116A>C (p.Asn1706His) c.4027A>C (p.Asn1343His) c.5125A>C (p.Asn1709His) n.1007A>C | |
11 | g.70473268C>A | CA381676287 | SHANK2 | c.3384G>T (p.Met1128Ile) c.929G>T (n.929G>T) c.5151G>T (p.Met1717Ile) c.2660G>T c.4014G>T (p.Met1338Ile) c.3441G>T (p.Met1147Ile) c.3387G>T (p.Met1129Ile) c.*155G>T (n.*155G>T) c.3363G>T (p.Met1121Ile) c.927G>T c.2988G>T (p.Met996Ile) n.1903G>T n.1005G>T c.5121G>T (p.Met1707Ile) c.5163G>T (p.Met1721Ile) c.5142G>T (p.Met1714Ile) c.5136G>T (p.Met1712Ile) c.5115G>T (p.Met1705Ile) c.4026G>T (p.Met1342Ile) c.5124G>T (p.Met1708Ile) n.1006G>T | |
11 | g.70473268C= | CA1981067975 | SHANK2 | c.3384G= (p.Met1128=) c.929G= (n.929G=) c.5151G= (p.Met1717=) c.2660G= c.4014G= (p.Met1338=) c.3441G= (p.Met1147=) c.3387G= (p.Met1129=) c.*155G= (n.*155G=) c.3363G= (p.Met1121=) c.927G= c.2988G= (p.Met996=) n.1903G= n.1005G= c.5121G= (p.Met1707=) c.5163G= (p.Met1721=) c.5142G= (p.Met1714=) c.5136G= (p.Met1712=) c.5115G= (p.Met1705=) c.4026G= (p.Met1342=) c.5124G= (p.Met1708=) n.1006G= | |
11 | g.70473268C>G | CA6160760 | SHANK2 | c.3384G>C (p.Met1128Ile) c.929G>C (n.929G>C) c.5151G>C (p.Met1717Ile) c.2660G>C c.4014G>C (p.Met1338Ile) c.3441G>C (p.Met1147Ile) c.3387G>C (p.Met1129Ile) c.*155G>C (n.*155G>C) c.3363G>C (p.Met1121Ile) c.927G>C c.2988G>C (p.Met996Ile) n.1903G>C n.1005G>C c.5121G>C (p.Met1707Ile) c.5163G>C (p.Met1721Ile) c.5142G>C (p.Met1714Ile) c.5136G>C (p.Met1712Ile) c.5115G>C (p.Met1705Ile) c.4026G>C (p.Met1342Ile) c.5124G>C (p.Met1708Ile) n.1006G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473268C>T | CA214637 | SHANK2 | c.3384G>A (p.Met1128Ile) c.929G>A (n.929G>A) c.5151G>A (p.Met1717Ile) c.2660G>A c.4014G>A (p.Met1338Ile) c.3441G>A (p.Met1147Ile) c.3387G>A (p.Met1129Ile) c.*155G>A (n.*155G>A) c.3363G>A (p.Met1121Ile) c.927G>A c.2988G>A (p.Met996Ile) n.1903G>A n.1005G>A c.5121G>A (p.Met1707Ile) c.5163G>A (p.Met1721Ile) c.5142G>A (p.Met1714Ile) c.5136G>A (p.Met1712Ile) c.5115G>A (p.Met1705Ile) c.4026G>A (p.Met1342Ile) c.5124G>A (p.Met1708Ile) n.1006G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473269A>C | CA381676290 | SHANK2 | c.3383T>G (p.Met1128Arg) c.928T>G (n.928T>G) c.5150T>G (p.Met1717Arg) c.2659T>G c.4013T>G (p.Met1338Arg) c.3440T>G (p.Met1147Arg) c.3386T>G (p.Met1129Arg) c.*154T>G (n.*154T>G) c.3362T>G (p.Met1121Arg) c.926T>G c.2987T>G (p.Met996Arg) n.1902T>G n.1004T>G c.5120T>G (p.Met1707Arg) c.5162T>G (p.Met1721Arg) c.5141T>G (p.Met1714Arg) c.5135T>G (p.Met1712Arg) c.5114T>G (p.Met1705Arg) c.4025T>G (p.Met1342Arg) c.5123T>G (p.Met1708Arg) n.1005T>G | |
11 | g.70473269A>G | CA381676288 | SHANK2 | c.3383T>C (p.Met1128Thr) c.928T>C (n.928T>C) c.5150T>C (p.Met1717Thr) c.2659T>C c.4013T>C (p.Met1338Thr) c.3440T>C (p.Met1147Thr) c.3386T>C (p.Met1129Thr) c.*154T>C (n.*154T>C) c.3362T>C (p.Met1121Thr) c.926T>C c.2987T>C (p.Met996Thr) n.1902T>C n.1004T>C c.5120T>C (p.Met1707Thr) c.5162T>C (p.Met1721Thr) c.5141T>C (p.Met1714Thr) c.5135T>C (p.Met1712Thr) c.5114T>C (p.Met1705Thr) c.4025T>C (p.Met1342Thr) c.5123T>C (p.Met1708Thr) n.1005T>C | |
11 | g.70473269A>T | CA381676289 | SHANK2 | c.3383T>A (p.Met1128Lys) c.928T>A (n.928T>A) c.5150T>A (p.Met1717Lys) c.2659T>A c.4013T>A (p.Met1338Lys) c.3440T>A (p.Met1147Lys) c.3386T>A (p.Met1129Lys) c.*154T>A (n.*154T>A) c.3362T>A (p.Met1121Lys) c.926T>A c.2987T>A (p.Met996Lys) n.1902T>A n.1004T>A c.5120T>A (p.Met1707Lys) c.5162T>A (p.Met1721Lys) c.5141T>A (p.Met1714Lys) c.5135T>A (p.Met1712Lys) c.5114T>A (p.Met1705Lys) c.4025T>A (p.Met1342Lys) c.5123T>A (p.Met1708Lys) n.1005T>A | gnomAD v4 |
11 | g.70473270T>A | CA381676291 | SHANK2 | c.3382A>T (p.Met1128Leu) c.927A>T (n.927A>T) c.5149A>T (p.Met1717Leu) c.2658A>T c.4012A>T (p.Met1338Leu) c.3439A>T (p.Met1147Leu) c.3385A>T (p.Met1129Leu) c.*153A>T (n.*153A>T) c.3361A>T (p.Met1121Leu) c.925A>T c.2986A>T (p.Met996Leu) n.1901A>T n.1003A>T c.5119A>T (p.Met1707Leu) c.5161A>T (p.Met1721Leu) c.5140A>T (p.Met1714Leu) c.5134A>T (p.Met1712Leu) c.5113A>T (p.Met1705Leu) c.4024A>T (p.Met1342Leu) c.5122A>T (p.Met1708Leu) n.1004A>T | |
11 | g.70473270T>C | CA381676292 | SHANK2 | c.3382A>G (p.Met1128Val) c.927A>G (n.927A>G) c.5149A>G (p.Met1717Val) c.2658A>G c.4012A>G (p.Met1338Val) c.3439A>G (p.Met1147Val) c.3385A>G (p.Met1129Val) c.*153A>G (n.*153A>G) c.3361A>G (p.Met1121Val) c.925A>G c.2986A>G (p.Met996Val) n.1901A>G n.1003A>G c.5119A>G (p.Met1707Val) c.5161A>G (p.Met1721Val) c.5140A>G (p.Met1714Val) c.5134A>G (p.Met1712Val) c.5113A>G (p.Met1705Val) c.4024A>G (p.Met1342Val) c.5122A>G (p.Met1708Val) n.1004A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473270T>G | CA381676293 | SHANK2 | c.3382A>C (p.Met1128Leu) c.927A>C (n.927A>C) c.5149A>C (p.Met1717Leu) c.2658A>C c.4012A>C (p.Met1338Leu) c.3439A>C (p.Met1147Leu) c.3385A>C (p.Met1129Leu) c.*153A>C (n.*153A>C) c.3361A>C (p.Met1121Leu) c.925A>C c.2986A>C (p.Met996Leu) n.1901A>C n.1003A>C c.5119A>C (p.Met1707Leu) c.5161A>C (p.Met1721Leu) c.5140A>C (p.Met1714Leu) c.5134A>C (p.Met1712Leu) c.5113A>C (p.Met1705Leu) c.4024A>C (p.Met1342Leu) c.5122A>C (p.Met1708Leu) n.1004A>C | |
11 | g.70473270T= | CA1981067976 | SHANK2 | c.3382A= (p.Met1128=) c.927A= (n.927A=) c.5149A= (p.Met1717=) c.2658A= c.4012A= (p.Met1338=) c.3439A= (p.Met1147=) c.3385A= (p.Met1129=) c.*153A= (n.*153A=) c.3361A= (p.Met1121=) c.925A= c.2986A= (p.Met996=) n.1901A= n.1003A= c.5119A= (p.Met1707=) c.5161A= (p.Met1721=) c.5140A= (p.Met1714=) c.5134A= (p.Met1712=) c.5113A= (p.Met1705=) c.4024A= (p.Met1342=) c.5122A= (p.Met1708=) n.1004A= | |
11 | g.70473271C>A | CA6160761 | SHANK2 | c.3381G>T (p.Glu1127Asp) c.926G>T (n.926G>T) c.5148G>T (p.Glu1716Asp) c.2657G>T c.4011G>T (p.Glu1337Asp) c.3438G>T (p.Glu1146Asp) c.3384G>T (p.Glu1128Asp) c.*152G>T (n.*152G>T) c.3360G>T (p.Glu1120Asp) c.924G>T c.2985G>T (p.Glu995Asp) n.1900G>T n.1002G>T c.5118G>T (p.Glu1706Asp) c.5160G>T (p.Glu1720Asp) c.5139G>T (p.Glu1713Asp) c.5133G>T (p.Glu1711Asp) c.5112G>T (p.Glu1704Asp) c.4023G>T (p.Glu1341Asp) c.5121G>T (p.Glu1707Asp) n.1003G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.70473271C= | CA1981067977 | SHANK2 | c.3381G= (p.Glu1127=) c.926G= (n.926G=) c.5148G= (p.Glu1716=) c.2657G= c.4011G= (p.Glu1337=) c.3438G= (p.Glu1146=) c.3384G= (p.Glu1128=) c.*152G= (n.*152G=) c.3360G= (p.Glu1120=) c.924G= c.2985G= (p.Glu995=) n.1900G= n.1002G= c.5118G= (p.Glu1706=) c.5160G= (p.Glu1720=) c.5139G= (p.Glu1713=) c.5133G= (p.Glu1711=) c.5112G= (p.Glu1704=) c.4023G= (p.Glu1341=) c.5121G= (p.Glu1707=) n.1003G= | |
11 | g.70473271C>G | CA381676294 | SHANK2 | c.3381G>C (p.Glu1127Asp) c.926G>C (n.926G>C) c.5148G>C (p.Glu1716Asp) c.2657G>C c.4011G>C (p.Glu1337Asp) c.3438G>C (p.Glu1146Asp) c.3384G>C (p.Glu1128Asp) c.*152G>C (n.*152G>C) c.3360G>C (p.Glu1120Asp) c.924G>C c.2985G>C (p.Glu995Asp) n.1900G>C n.1002G>C c.5118G>C (p.Glu1706Asp) c.5160G>C (p.Glu1720Asp) c.5139G>C (p.Glu1713Asp) c.5133G>C (p.Glu1711Asp) c.5112G>C (p.Glu1704Asp) c.4023G>C (p.Glu1341Asp) c.5121G>C (p.Glu1707Asp) n.1003G>C | |
11 | g.70473271C>T | CA475470705 | SHANK2 | c.3381G>A (p.Glu1127=) c.926G>A (n.926G>A) c.5148G>A (p.Glu1716=) c.2657G>A c.4011G>A (p.Glu1337=) c.3438G>A (p.Glu1146=) c.3384G>A (p.Glu1128=) c.*152G>A (n.*152G>A) c.3360G>A (p.Glu1120=) c.924G>A c.2985G>A (p.Glu995=) n.1900G>A n.1002G>A c.5118G>A (p.Glu1706=) c.5160G>A (p.Glu1720=) c.5139G>A (p.Glu1713=) c.5133G>A (p.Glu1711=) c.5112G>A (p.Glu1704=) c.4023G>A (p.Glu1341=) c.5121G>A (p.Glu1707=) n.1003G>A | dbSNP gnomAD v4 |
11 | g.70473272T>A | CA381676295 | SHANK2 | c.3380A>T (p.Glu1127Val) c.925A>T (n.925A>T) c.5147A>T (p.Glu1716Val) c.2656A>T c.4010A>T (p.Glu1337Val) c.3437A>T (p.Glu1146Val) c.3383A>T (p.Glu1128Val) c.*151A>T (n.*151A>T) c.3359A>T (p.Glu1120Val) c.923A>T c.2984A>T (p.Glu995Val) n.1899A>T n.1001A>T c.5117A>T (p.Glu1706Val) c.5159A>T (p.Glu1720Val) c.5138A>T (p.Glu1713Val) c.5132A>T (p.Glu1711Val) c.5111A>T (p.Glu1704Val) c.4022A>T (p.Glu1341Val) c.5120A>T (p.Glu1707Val) n.1002A>T | |
11 | g.70473272T>C | CA381676297 | SHANK2 | c.3380A>G (p.Glu1127Gly) c.925A>G (n.925A>G) c.5147A>G (p.Glu1716Gly) c.2656A>G c.4010A>G (p.Glu1337Gly) c.3437A>G (p.Glu1146Gly) c.3383A>G (p.Glu1128Gly) c.*151A>G (n.*151A>G) c.3359A>G (p.Glu1120Gly) c.923A>G c.2984A>G (p.Glu995Gly) n.1899A>G n.1001A>G c.5117A>G (p.Glu1706Gly) c.5159A>G (p.Glu1720Gly) c.5138A>G (p.Glu1713Gly) c.5132A>G (p.Glu1711Gly) c.5111A>G (p.Glu1704Gly) c.4022A>G (p.Glu1341Gly) c.5120A>G (p.Glu1707Gly) n.1002A>G | |
11 | g.70473272T>G | CA381676296 | SHANK2 | c.3380A>C (p.Glu1127Ala) c.925A>C (n.925A>C) c.5147A>C (p.Glu1716Ala) c.2656A>C c.4010A>C (p.Glu1337Ala) c.3437A>C (p.Glu1146Ala) c.3383A>C (p.Glu1128Ala) c.*151A>C (n.*151A>C) c.3359A>C (p.Glu1120Ala) c.923A>C c.2984A>C (p.Glu995Ala) n.1899A>C n.1001A>C c.5117A>C (p.Glu1706Ala) c.5159A>C (p.Glu1720Ala) c.5138A>C (p.Glu1713Ala) c.5132A>C (p.Glu1711Ala) c.5111A>C (p.Glu1704Ala) c.4022A>C (p.Glu1341Ala) c.5120A>C (p.Glu1707Ala) n.1002A>C | |
11 | g.70473273C>A | CA381676298 | SHANK2 | c.3379G>T (p.Glu1127Ter) c.924G>T (n.924G>T) c.5146G>T (p.Glu1716Ter) c.2655G>T c.4009G>T (p.Glu1337Ter) c.3436G>T (p.Glu1146Ter) c.3382G>T (p.Glu1128Ter) c.*150G>T (n.*150G>T) c.3358G>T (p.Glu1120Ter) c.922G>T c.2983G>T (p.Glu995Ter) n.1898G>T n.1000G>T c.5116G>T (p.Glu1706Ter) c.5158G>T (p.Glu1720Ter) c.5137G>T (p.Glu1713Ter) c.5131G>T (p.Glu1711Ter) c.5110G>T (p.Glu1704Ter) c.4021G>T (p.Glu1341Ter) c.5119G>T (p.Glu1707Ter) n.1001G>T | |
11 | g.70473273C>G | CA381676299 | SHANK2 | c.3379G>C (p.Glu1127Gln) c.924G>C (n.924G>C) c.5146G>C (p.Glu1716Gln) c.2655G>C c.4009G>C (p.Glu1337Gln) c.3436G>C (p.Glu1146Gln) c.3382G>C (p.Glu1128Gln) c.*150G>C (n.*150G>C) c.3358G>C (p.Glu1120Gln) c.922G>C c.2983G>C (p.Glu995Gln) n.1898G>C n.1000G>C c.5116G>C (p.Glu1706Gln) c.5158G>C (p.Glu1720Gln) c.5137G>C (p.Glu1713Gln) c.5131G>C (p.Glu1711Gln) c.5110G>C (p.Glu1704Gln) c.4021G>C (p.Glu1341Gln) c.5119G>C (p.Glu1707Gln) n.1001G>C | gnomAD v4 |
11 | g.70473273C>T | CA381676300 | SHANK2 | c.3379G>A (p.Glu1127Lys) c.924G>A (n.924G>A) c.5146G>A (p.Glu1716Lys) c.2655G>A c.4009G>A (p.Glu1337Lys) c.3436G>A (p.Glu1146Lys) c.3382G>A (p.Glu1128Lys) c.*150G>A (n.*150G>A) c.3358G>A (p.Glu1120Lys) c.922G>A c.2983G>A (p.Glu995Lys) n.1898G>A n.1000G>A c.5116G>A (p.Glu1706Lys) c.5158G>A (p.Glu1720Lys) c.5137G>A (p.Glu1713Lys) c.5131G>A (p.Glu1711Lys) c.5110G>A (p.Glu1704Lys) c.4021G>A (p.Glu1341Lys) c.5119G>A (p.Glu1707Lys) n.1001G>A | |
11 | g.70473274T>A | CA475470706 | SHANK2 | c.3378A>T (p.Thr1126=) c.923A>T (n.923A>T) c.5145A>T (p.Thr1715=) c.2654A>T c.4008A>T (p.Thr1336=) c.3435A>T (p.Thr1145=) c.3381A>T (p.Thr1127=) c.*149A>T (n.*149A>T) c.3357A>T (p.Thr1119=) c.921A>T c.2982A>T (p.Thr994=) n.1897A>T n.999A>T c.5115A>T (p.Thr1705=) c.5157A>T (p.Thr1719=) c.5136A>T (p.Thr1712=) c.5130A>T (p.Thr1710=) c.5109A>T (p.Thr1703=) c.4020A>T (p.Thr1340=) c.5118A>T (p.Thr1706=) n.1000A>T | |
11 | g.70473274T>C | CA475470707 | SHANK2 | c.3378A>G (p.Thr1126=) c.923A>G (n.923A>G) c.5145A>G (p.Thr1715=) c.2654A>G c.4008A>G (p.Thr1336=) c.3435A>G (p.Thr1145=) c.3381A>G (p.Thr1127=) c.*149A>G (n.*149A>G) c.3357A>G (p.Thr1119=) c.921A>G c.2982A>G (p.Thr994=) n.1897A>G n.999A>G c.5115A>G (p.Thr1705=) c.5157A>G (p.Thr1719=) c.5136A>G (p.Thr1712=) c.5130A>G (p.Thr1710=) c.5109A>G (p.Thr1703=) c.4020A>G (p.Thr1340=) c.5118A>G (p.Thr1706=) n.1000A>G | |
11 | g.70473274T>G | CA475470708 | SHANK2 | c.3378A>C (p.Thr1126=) c.923A>C (n.923A>C) c.5145A>C (p.Thr1715=) c.2654A>C c.4008A>C (p.Thr1336=) c.3435A>C (p.Thr1145=) c.3381A>C (p.Thr1127=) c.*149A>C (n.*149A>C) c.3357A>C (p.Thr1119=) c.921A>C c.2982A>C (p.Thr994=) n.1897A>C n.999A>C c.5115A>C (p.Thr1705=) c.5157A>C (p.Thr1719=) c.5136A>C (p.Thr1712=) c.5130A>C (p.Thr1710=) c.5109A>C (p.Thr1703=) c.4020A>C (p.Thr1340=) c.5118A>C (p.Thr1706=) n.1000A>C | |
11 | g.70473275G>A | CA381676301 | SHANK2 | c.3377C>T (p.Thr1126Ile) c.922C>T (n.922C>T) c.5144C>T (p.Thr1715Ile) c.2653C>T c.4007C>T (p.Thr1336Ile) c.3434C>T (p.Thr1145Ile) c.3380C>T (p.Thr1127Ile) c.*148C>T (n.*148C>T) c.3356C>T (p.Thr1119Ile) c.920C>T c.2981C>T (p.Thr994Ile) n.1896C>T n.998C>T c.5114C>T (p.Thr1705Ile) c.5156C>T (p.Thr1719Ile) c.5135C>T (p.Thr1712Ile) c.5129C>T (p.Thr1710Ile) c.5108C>T (p.Thr1703Ile) c.4019C>T (p.Thr1340Ile) c.5117C>T (p.Thr1706Ile) n.999C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.70473275G>C | CA381676302 | SHANK2 | c.3377C>G (p.Thr1126Arg) c.922C>G (n.922C>G) c.5144C>G (p.Thr1715Arg) c.2653C>G c.4007C>G (p.Thr1336Arg) c.3434C>G (p.Thr1145Arg) c.3380C>G (p.Thr1127Arg) c.*148C>G (n.*148C>G) c.3356C>G (p.Thr1119Arg) c.920C>G c.2981C>G (p.Thr994Arg) n.1896C>G n.998C>G c.5114C>G (p.Thr1705Arg) c.5156C>G (p.Thr1719Arg) c.5135C>G (p.Thr1712Arg) c.5129C>G (p.Thr1710Arg) c.5108C>G (p.Thr1703Arg) c.4019C>G (p.Thr1340Arg) c.5117C>G (p.Thr1706Arg) n.999C>G | |
11 | g.70473275G= | CA1981067978 | SHANK2 | c.3377C= (p.Thr1126=) c.922C= (n.922C=) c.5144C= (p.Thr1715=) c.2653C= c.4007C= (p.Thr1336=) c.3434C= (p.Thr1145=) c.3380C= (p.Thr1127=) c.*148C= (n.*148C=) c.3356C= (p.Thr1119=) c.920C= c.2981C= (p.Thr994=) n.1896C= n.998C= c.5114C= (p.Thr1705=) c.5156C= (p.Thr1719=) c.5135C= (p.Thr1712=) c.5129C= (p.Thr1710=) c.5108C= (p.Thr1703=) c.4019C= (p.Thr1340=) c.5117C= (p.Thr1706=) n.999C= | |
11 | g.70473275G>T | CA381676303 | SHANK2 | c.3377C>A (p.Thr1126Lys) c.922C>A (n.922C>A) c.5144C>A (p.Thr1715Lys) c.2653C>A c.4007C>A (p.Thr1336Lys) c.3434C>A (p.Thr1145Lys) c.3380C>A (p.Thr1127Lys) c.*148C>A (n.*148C>A) c.3356C>A (p.Thr1119Lys) c.920C>A c.2981C>A (p.Thr994Lys) n.1896C>A n.998C>A c.5114C>A (p.Thr1705Lys) c.5156C>A (p.Thr1719Lys) c.5135C>A (p.Thr1712Lys) c.5129C>A (p.Thr1710Lys) c.5108C>A (p.Thr1703Lys) c.4019C>A (p.Thr1340Lys) c.5117C>A (p.Thr1706Lys) n.999C>A | |
11 | g.70473276T>A | CA381676304 | SHANK2 | c.3376A>T (p.Thr1126Ser) c.921A>T (n.921A>T) c.5143A>T (p.Thr1715Ser) c.2652A>T c.4006A>T (p.Thr1336Ser) c.3433A>T (p.Thr1145Ser) c.3379A>T (p.Thr1127Ser) c.*147A>T (n.*147A>T) c.3355A>T (p.Thr1119Ser) c.919A>T c.2980A>T (p.Thr994Ser) n.1895A>T n.997A>T c.5113A>T (p.Thr1705Ser) c.5155A>T (p.Thr1719Ser) c.5134A>T (p.Thr1712Ser) c.5128A>T (p.Thr1710Ser) c.5107A>T (p.Thr1703Ser) c.4018A>T (p.Thr1340Ser) c.5116A>T (p.Thr1706Ser) n.998A>T | |
11 | g.70473276T>C | CA381676305 | SHANK2 | c.3376A>G (p.Thr1126Ala) c.921A>G (n.921A>G) c.5143A>G (p.Thr1715Ala) c.2652A>G c.4006A>G (p.Thr1336Ala) c.3433A>G (p.Thr1145Ala) c.3379A>G (p.Thr1127Ala) c.*147A>G (n.*147A>G) c.3355A>G (p.Thr1119Ala) c.919A>G c.2980A>G (p.Thr994Ala) n.1895A>G n.997A>G c.5113A>G (p.Thr1705Ala) c.5155A>G (p.Thr1719Ala) c.5134A>G (p.Thr1712Ala) c.5128A>G (p.Thr1710Ala) c.5107A>G (p.Thr1703Ala) c.4018A>G (p.Thr1340Ala) c.5116A>G (p.Thr1706Ala) n.998A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473276T>G | CA381676306 | SHANK2 | c.3376A>C (p.Thr1126Pro) c.921A>C (n.921A>C) c.5143A>C (p.Thr1715Pro) c.2652A>C c.4006A>C (p.Thr1336Pro) c.3433A>C (p.Thr1145Pro) c.3379A>C (p.Thr1127Pro) c.*147A>C (n.*147A>C) c.3355A>C (p.Thr1119Pro) c.919A>C c.2980A>C (p.Thr994Pro) n.1895A>C n.997A>C c.5113A>C (p.Thr1705Pro) c.5155A>C (p.Thr1719Pro) c.5134A>C (p.Thr1712Pro) c.5128A>C (p.Thr1710Pro) c.5107A>C (p.Thr1703Pro) c.4018A>C (p.Thr1340Pro) c.5116A>C (p.Thr1706Pro) n.998A>C | |
11 | g.70473276T= | CA1981067979 | SHANK2 | c.3376A= (p.Thr1126=) c.921A= (n.921A=) c.5143A= (p.Thr1715=) c.2652A= c.4006A= (p.Thr1336=) c.3433A= (p.Thr1145=) c.3379A= (p.Thr1127=) c.*147A= (n.*147A=) c.3355A= (p.Thr1119=) c.919A= c.2980A= (p.Thr994=) n.1895A= n.997A= c.5113A= (p.Thr1705=) c.5155A= (p.Thr1719=) c.5134A= (p.Thr1712=) c.5128A= (p.Thr1710=) c.5107A= (p.Thr1703=) c.4018A= (p.Thr1340=) c.5116A= (p.Thr1706=) n.998A= | |
11 | g.70473277T>A | CA475470709 | SHANK2 | c.3375A>T (p.Pro1125=) c.920A>T (n.920A>T) c.5142A>T (p.Pro1714=) c.2651A>T c.4005A>T (p.Pro1335=) c.3432A>T (p.Pro1144=) c.3378A>T (p.Pro1126=) c.*146A>T (n.*146A>T) c.3354A>T (p.Pro1118=) c.918A>T c.2979A>T (p.Pro993=) n.1894A>T n.996A>T c.5112A>T (p.Pro1704=) c.5154A>T (p.Pro1718=) c.5133A>T (p.Pro1711=) c.5127A>T (p.Pro1709=) c.5106A>T (p.Pro1702=) c.4017A>T (p.Pro1339=) c.5115A>T (p.Pro1705=) n.997A>T | |
11 | g.70473277T>C | CA475470710 | SHANK2 | c.3375A>G (p.Pro1125=) c.920A>G (n.920A>G) c.5142A>G (p.Pro1714=) c.2651A>G c.4005A>G (p.Pro1335=) c.3432A>G (p.Pro1144=) c.3378A>G (p.Pro1126=) c.*146A>G (n.*146A>G) c.3354A>G (p.Pro1118=) c.918A>G c.2979A>G (p.Pro993=) n.1894A>G n.996A>G c.5112A>G (p.Pro1704=) c.5154A>G (p.Pro1718=) c.5133A>G (p.Pro1711=) c.5127A>G (p.Pro1709=) c.5106A>G (p.Pro1702=) c.4017A>G (p.Pro1339=) c.5115A>G (p.Pro1705=) n.997A>G | |
11 | g.70473277T>G | CA475470711 | SHANK2 | c.3375A>C (p.Pro1125=) c.920A>C (n.920A>C) c.5142A>C (p.Pro1714=) c.2651A>C c.4005A>C (p.Pro1335=) c.3432A>C (p.Pro1144=) c.3378A>C (p.Pro1126=) c.*146A>C (n.*146A>C) c.3354A>C (p.Pro1118=) c.918A>C c.2979A>C (p.Pro993=) n.1894A>C n.996A>C c.5112A>C (p.Pro1704=) c.5154A>C (p.Pro1718=) c.5133A>C (p.Pro1711=) c.5127A>C (p.Pro1709=) c.5106A>C (p.Pro1702=) c.4017A>C (p.Pro1339=) c.5115A>C (p.Pro1705=) n.997A>C | |
11 | g.70473278G>A | CA381676307 | SHANK2 | c.3374C>T (p.Pro1125Leu) c.919C>T (n.919C>T) c.5141C>T (p.Pro1714Leu) c.2650C>T c.4004C>T (p.Pro1335Leu) c.3431C>T (p.Pro1144Leu) c.3377C>T (p.Pro1126Leu) c.*145C>T (n.*145C>T) c.3353C>T (p.Pro1118Leu) c.917C>T c.2978C>T (p.Pro993Leu) n.1893C>T n.995C>T c.5111C>T (p.Pro1704Leu) c.5153C>T (p.Pro1718Leu) c.5132C>T (p.Pro1711Leu) c.5126C>T (p.Pro1709Leu) c.5105C>T (p.Pro1702Leu) c.4016C>T (p.Pro1339Leu) c.5114C>T (p.Pro1705Leu) n.996C>T | |
11 | g.70473278G>C | CA381676308 | SHANK2 | c.3374C>G (p.Pro1125Arg) c.919C>G (n.919C>G) c.5141C>G (p.Pro1714Arg) c.2650C>G c.4004C>G (p.Pro1335Arg) c.3431C>G (p.Pro1144Arg) c.3377C>G (p.Pro1126Arg) c.*145C>G (n.*145C>G) c.3353C>G (p.Pro1118Arg) c.917C>G c.2978C>G (p.Pro993Arg) n.1893C>G n.995C>G c.5111C>G (p.Pro1704Arg) c.5153C>G (p.Pro1718Arg) c.5132C>G (p.Pro1711Arg) c.5126C>G (p.Pro1709Arg) c.5105C>G (p.Pro1702Arg) c.4016C>G (p.Pro1339Arg) c.5114C>G (p.Pro1705Arg) n.996C>G | |
11 | g.70473278G>T | CA381676309 | SHANK2 | c.3374C>A (p.Pro1125Gln) c.919C>A (n.919C>A) c.5141C>A (p.Pro1714Gln) c.2650C>A c.4004C>A (p.Pro1335Gln) c.3431C>A (p.Pro1144Gln) c.3377C>A (p.Pro1126Gln) c.*145C>A (n.*145C>A) c.3353C>A (p.Pro1118Gln) c.917C>A c.2978C>A (p.Pro993Gln) n.1893C>A n.995C>A c.5111C>A (p.Pro1704Gln) c.5153C>A (p.Pro1718Gln) c.5132C>A (p.Pro1711Gln) c.5126C>A (p.Pro1709Gln) c.5105C>A (p.Pro1702Gln) c.4016C>A (p.Pro1339Gln) c.5114C>A (p.Pro1705Gln) n.996C>A | |
11 | g.70473279G>A | CA381676311 | SHANK2 | c.3373C>T (p.Pro1125Ser) c.918C>T (n.918C>T) c.5140C>T (p.Pro1714Ser) c.2649C>T c.4003C>T (p.Pro1335Ser) c.3430C>T (p.Pro1144Ser) c.3376C>T (p.Pro1126Ser) c.*144C>T (n.*144C>T) c.3352C>T (p.Pro1118Ser) c.916C>T c.2977C>T (p.Pro993Ser) n.1892C>T n.994C>T c.5110C>T (p.Pro1704Ser) c.5152C>T (p.Pro1718Ser) c.5131C>T (p.Pro1711Ser) c.5125C>T (p.Pro1709Ser) c.5104C>T (p.Pro1702Ser) c.4015C>T (p.Pro1339Ser) c.5113C>T (p.Pro1705Ser) n.995C>T | |
11 | g.70473279G>C | CA381676312 | SHANK2 | c.3373C>G (p.Pro1125Ala) c.918C>G (n.918C>G) c.5140C>G (p.Pro1714Ala) c.2649C>G c.4003C>G (p.Pro1335Ala) c.3430C>G (p.Pro1144Ala) c.3376C>G (p.Pro1126Ala) c.*144C>G (n.*144C>G) c.3352C>G (p.Pro1118Ala) c.916C>G c.2977C>G (p.Pro993Ala) n.1892C>G n.994C>G c.5110C>G (p.Pro1704Ala) c.5152C>G (p.Pro1718Ala) c.5131C>G (p.Pro1711Ala) c.5125C>G (p.Pro1709Ala) c.5104C>G (p.Pro1702Ala) c.4015C>G (p.Pro1339Ala) c.5113C>G (p.Pro1705Ala) n.995C>G | gnomAD v4 |
11 | g.70473279G= | CA1981067980 | SHANK2 | c.3373C= (p.Pro1125=) c.918C= (n.918C=) c.5140C= (p.Pro1714=) c.2649C= c.4003C= (p.Pro1335=) c.3430C= (p.Pro1144=) c.3376C= (p.Pro1126=) c.*144C= (n.*144C=) c.3352C= (p.Pro1118=) c.916C= c.2977C= (p.Pro993=) n.1892C= n.994C= c.5110C= (p.Pro1704=) c.5152C= (p.Pro1718=) c.5131C= (p.Pro1711=) c.5125C= (p.Pro1709=) c.5104C= (p.Pro1702=) c.4015C= (p.Pro1339=) c.5113C= (p.Pro1705=) n.995C= | |
11 | g.70473279G>T | CA381676310 | SHANK2 | c.3373C>A (p.Pro1125Thr) c.918C>A (n.918C>A) c.5140C>A (p.Pro1714Thr) c.2649C>A c.4003C>A (p.Pro1335Thr) c.3430C>A (p.Pro1144Thr) c.3376C>A (p.Pro1126Thr) c.*144C>A (n.*144C>A) c.3352C>A (p.Pro1118Thr) c.916C>A c.2977C>A (p.Pro993Thr) n.1892C>A n.994C>A c.5110C>A (p.Pro1704Thr) c.5152C>A (p.Pro1718Thr) c.5131C>A (p.Pro1711Thr) c.5125C>A (p.Pro1709Thr) c.5104C>A (p.Pro1702Thr) c.4015C>A (p.Pro1339Thr) c.5113C>A (p.Pro1705Thr) n.995C>A | dbSNP |
11 | g.70473280C>A | CA6160762 | SHANK2 | c.3372G>T (p.Ser1124=) c.917G>T (n.917G>T) c.5139G>T (p.Ser1713=) c.2648G>T c.4002G>T (p.Ser1334=) c.3429G>T (p.Ser1143=) c.3375G>T (p.Ser1125=) c.*143G>T (n.*143G>T) c.3351G>T (p.Ser1117=) c.915G>T c.2976G>T (p.Ser992=) n.1891G>T n.993G>T c.5109G>T (p.Ser1703=) c.5151G>T (p.Ser1717=) c.5130G>T (p.Ser1710=) c.5124G>T (p.Ser1708=) c.5103G>T (p.Ser1701=) c.4014G>T (p.Ser1338=) c.5112G>T (p.Ser1704=) n.994G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.70473280C= | CA1981067981 | SHANK2 | c.3372G= (p.Ser1124=) c.917G= (n.917G=) c.5139G= (p.Ser1713=) c.2648G= c.4002G= (p.Ser1334=) c.3429G= (p.Ser1143=) c.3375G= (p.Ser1125=) c.*143G= (n.*143G=) c.3351G= (p.Ser1117=) c.915G= c.2976G= (p.Ser992=) n.1891G= n.993G= c.5109G= (p.Ser1703=) c.5151G= (p.Ser1717=) c.5130G= (p.Ser1710=) c.5124G= (p.Ser1708=) c.5103G= (p.Ser1701=) c.4014G= (p.Ser1338=) c.5112G= (p.Ser1704=) n.994G= | |
11 | g.70473280C>G | CA475470712 | SHANK2 | c.3372G>C (p.Ser1124=) c.917G>C (n.917G>C) c.5139G>C (p.Ser1713=) c.2648G>C c.4002G>C (p.Ser1334=) c.3429G>C (p.Ser1143=) c.3375G>C (p.Ser1125=) c.*143G>C (n.*143G>C) c.3351G>C (p.Ser1117=) c.915G>C c.2976G>C (p.Ser992=) n.1891G>C n.993G>C c.5109G>C (p.Ser1703=) c.5151G>C (p.Ser1717=) c.5130G>C (p.Ser1710=) c.5124G>C (p.Ser1708=) c.5103G>C (p.Ser1701=) c.4014G>C (p.Ser1338=) c.5112G>C (p.Ser1704=) n.994G>C | |
11 | g.70473280C>T | CA6160763 | SHANK2 | c.3372G>A (p.Ser1124=) c.917G>A (n.917G>A) c.5139G>A (p.Ser1713=) c.2648G>A c.4002G>A (p.Ser1334=) c.3429G>A (p.Ser1143=) c.3375G>A (p.Ser1125=) c.*143G>A (n.*143G>A) c.3351G>A (p.Ser1117=) c.915G>A c.2976G>A (p.Ser992=) n.1891G>A n.993G>A c.5109G>A (p.Ser1703=) c.5151G>A (p.Ser1717=) c.5130G>A (p.Ser1710=) c.5124G>A (p.Ser1708=) c.5103G>A (p.Ser1701=) c.4014G>A (p.Ser1338=) c.5112G>A (p.Ser1704=) n.994G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.70473281G>A | CA6160764 | SHANK2 | c.3371C>T (p.Ser1124Leu) c.916C>T (n.916C>T) c.5138C>T (p.Ser1713Leu) c.2647C>T c.4001C>T (p.Ser1334Leu) c.3428C>T (p.Ser1143Leu) c.3374C>T (p.Ser1125Leu) c.*142C>T (n.*142C>T) c.3350C>T (p.Ser1117Leu) c.914C>T c.2975C>T (p.Ser992Leu) n.1890C>T n.992C>T c.5108C>T (p.Ser1703Leu) c.5150C>T (p.Ser1717Leu) c.5129C>T (p.Ser1710Leu) c.5123C>T (p.Ser1708Leu) c.5102C>T (p.Ser1701Leu) c.4013C>T (p.Ser1338Leu) c.5111C>T (p.Ser1704Leu) n.993C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.70473281G>C | CA381676313 | SHANK2 | c.3371C>G (p.Ser1124Trp) c.916C>G (n.916C>G) c.5138C>G (p.Ser1713Trp) c.2647C>G c.4001C>G (p.Ser1334Trp) c.3428C>G (p.Ser1143Trp) c.3374C>G (p.Ser1125Trp) c.*142C>G (n.*142C>G) c.3350C>G (p.Ser1117Trp) c.914C>G c.2975C>G (p.Ser992Trp) n.1890C>G n.992C>G c.5108C>G (p.Ser1703Trp) c.5150C>G (p.Ser1717Trp) c.5129C>G (p.Ser1710Trp) c.5123C>G (p.Ser1708Trp) c.5102C>G (p.Ser1701Trp) c.4013C>G (p.Ser1338Trp) c.5111C>G (p.Ser1704Trp) n.993C>G | |
11 | g.70473281G= | CA1981067982 | SHANK2 | c.3371C= (p.Ser1124=) c.916C= (n.916C=) c.5138C= (p.Ser1713=) c.2647C= c.4001C= (p.Ser1334=) c.3428C= (p.Ser1143=) c.3374C= (p.Ser1125=) c.*142C= (n.*142C=) c.3350C= (p.Ser1117=) c.914C= c.2975C= (p.Ser992=) n.1890C= n.992C= c.5108C= (p.Ser1703=) c.5150C= (p.Ser1717=) c.5129C= (p.Ser1710=) c.5123C= (p.Ser1708=) c.5102C= (p.Ser1701=) c.4013C= (p.Ser1338=) c.5111C= (p.Ser1704=) n.993C= | |
11 | g.70473281G>T | CA381676314 | SHANK2 | c.3371C>A (p.Ser1124Ter) c.916C>A (n.916C>A) c.5138C>A (p.Ser1713Ter) c.2647C>A c.4001C>A (p.Ser1334Ter) c.3428C>A (p.Ser1143Ter) c.3374C>A (p.Ser1125Ter) c.*142C>A (n.*142C>A) c.3350C>A (p.Ser1117Ter) c.914C>A c.2975C>A (p.Ser992Ter) n.1890C>A n.992C>A c.5108C>A (p.Ser1703Ter) c.5150C>A (p.Ser1717Ter) c.5129C>A (p.Ser1710Ter) c.5123C>A (p.Ser1708Ter) c.5102C>A (p.Ser1701Ter) c.4013C>A (p.Ser1338Ter) c.5111C>A (p.Ser1704Ter) n.993C>A | |
11 | g.70473282A>C | CA381676317 | SHANK2 | c.3370T>G (p.Ser1124Ala) c.915T>G (n.915T>G) c.5137T>G (p.Ser1713Ala) c.2646T>G c.4000T>G (p.Ser1334Ala) c.3427T>G (p.Ser1143Ala) c.3373T>G (p.Ser1125Ala) c.*141T>G (n.*141T>G) c.3349T>G (p.Ser1117Ala) c.913T>G c.2974T>G (p.Ser992Ala) n.1889T>G n.991T>G c.5107T>G (p.Ser1703Ala) c.5149T>G (p.Ser1717Ala) c.5128T>G (p.Ser1710Ala) c.5122T>G (p.Ser1708Ala) c.5101T>G (p.Ser1701Ala) c.4012T>G (p.Ser1338Ala) c.5110T>G (p.Ser1704Ala) n.992T>G | |
11 | g.70473282A>G | CA381676316 | SHANK2 | c.3370T>C (p.Ser1124Pro) c.915T>C (n.915T>C) c.5137T>C (p.Ser1713Pro) c.2646T>C c.4000T>C (p.Ser1334Pro) c.3427T>C (p.Ser1143Pro) c.3373T>C (p.Ser1125Pro) c.*141T>C (n.*141T>C) c.3349T>C (p.Ser1117Pro) c.913T>C c.2974T>C (p.Ser992Pro) n.1889T>C n.991T>C c.5107T>C (p.Ser1703Pro) c.5149T>C (p.Ser1717Pro) c.5128T>C (p.Ser1710Pro) c.5122T>C (p.Ser1708Pro) c.5101T>C (p.Ser1701Pro) c.4012T>C (p.Ser1338Pro) c.5110T>C (p.Ser1704Pro) n.992T>C | |
11 | g.70473282A>T | CA381676315 | SHANK2 | c.3370T>A (p.Ser1124Thr) c.915T>A (n.915T>A) c.5137T>A (p.Ser1713Thr) c.2646T>A c.4000T>A (p.Ser1334Thr) c.3427T>A (p.Ser1143Thr) c.3373T>A (p.Ser1125Thr) c.*141T>A (n.*141T>A) c.3349T>A (p.Ser1117Thr) c.913T>A c.2974T>A (p.Ser992Thr) n.1889T>A n.991T>A c.5107T>A (p.Ser1703Thr) c.5149T>A (p.Ser1717Thr) c.5128T>A (p.Ser1710Thr) c.5122T>A (p.Ser1708Thr) c.5101T>A (p.Ser1701Thr) c.4012T>A (p.Ser1338Thr) c.5110T>A (p.Ser1704Thr) n.992T>A | |
11 | g.70473283G>A | CA475470715 | SHANK2 | c.3369C>T (p.Val1123=) c.914C>T (n.914C>T) c.5136C>T (p.Val1712=) c.2645C>T c.3999C>T (p.Val1333=) c.3426C>T (p.Val1142=) c.3372C>T (p.Val1124=) c.*140C>T (n.*140C>T) c.3348C>T (p.Val1116=) c.912C>T c.2973C>T (p.Val991=) n.1888C>T n.990C>T c.5106C>T (p.Val1702=) c.5148C>T (p.Val1716=) c.5127C>T (p.Val1709=) c.5121C>T (p.Val1707=) c.5100C>T (p.Val1700=) c.4011C>T (p.Val1337=) c.5109C>T (p.Val1703=) n.991C>T | |
11 | g.70473283G>C | CA475470714 | SHANK2 | c.3369C>G (p.Val1123=) c.914C>G (n.914C>G) c.5136C>G (p.Val1712=) c.2645C>G c.3999C>G (p.Val1333=) c.3426C>G (p.Val1142=) c.3372C>G (p.Val1124=) c.*140C>G (n.*140C>G) c.3348C>G (p.Val1116=) c.912C>G c.2973C>G (p.Val991=) n.1888C>G n.990C>G c.5106C>G (p.Val1702=) c.5148C>G (p.Val1716=) c.5127C>G (p.Val1709=) c.5121C>G (p.Val1707=) c.5100C>G (p.Val1700=) c.4011C>G (p.Val1337=) c.5109C>G (p.Val1703=) n.991C>G | |
11 | g.70473283G>T | CA475470713 | SHANK2 | c.3369C>A (p.Val1123=) c.914C>A (n.914C>A) c.5136C>A (p.Val1712=) c.2645C>A c.3999C>A (p.Val1333=) c.3426C>A (p.Val1142=) c.3372C>A (p.Val1124=) c.*140C>A (n.*140C>A) c.3348C>A (p.Val1116=) c.912C>A c.2973C>A (p.Val991=) n.1888C>A n.990C>A c.5106C>A (p.Val1702=) c.5148C>A (p.Val1716=) c.5127C>A (p.Val1709=) c.5121C>A (p.Val1707=) c.5100C>A (p.Val1700=) c.4011C>A (p.Val1337=) c.5109C>A (p.Val1703=) n.991C>A | |
11 | g.70473284A= | CA1981067983 | SHANK2 | c.3368T= (p.Val1123=) c.913T= (n.913T=) c.5135T= (p.Val1712=) c.2644T= c.3998T= (p.Val1333=) c.3425T= (p.Val1142=) c.3371T= (p.Val1124=) c.*139T= (n.*139T=) c.3347T= (p.Val1116=) c.911T= c.2972T= (p.Val991=) n.1887T= n.989T= c.5105T= (p.Val1702=) c.5147T= (p.Val1716=) c.5126T= (p.Val1709=) c.5120T= (p.Val1707=) c.5099T= (p.Val1700=) c.4010T= (p.Val1337=) c.5108T= (p.Val1703=) n.990T= | |
11 | g.70473284A>C | CA381676318 | SHANK2 | c.3368T>G (p.Val1123Gly) c.913T>G (n.913T>G) c.5135T>G (p.Val1712Gly) c.2644T>G c.3998T>G (p.Val1333Gly) c.3425T>G (p.Val1142Gly) c.3371T>G (p.Val1124Gly) c.*139T>G (n.*139T>G) c.3347T>G (p.Val1116Gly) c.911T>G c.2972T>G (p.Val991Gly) n.1887T>G n.989T>G c.5105T>G (p.Val1702Gly) c.5147T>G (p.Val1716Gly) c.5126T>G (p.Val1709Gly) c.5120T>G (p.Val1707Gly) c.5099T>G (p.Val1700Gly) c.4010T>G (p.Val1337Gly) c.5108T>G (p.Val1703Gly) n.990T>G | |
11 | g.70473284A>G | CA381676319 | SHANK2 | c.3368T>C (p.Val1123Ala) c.913T>C (n.913T>C) c.5135T>C (p.Val1712Ala) c.2644T>C c.3998T>C (p.Val1333Ala) c.3425T>C (p.Val1142Ala) c.3371T>C (p.Val1124Ala) c.*139T>C (n.*139T>C) c.3347T>C (p.Val1116Ala) c.911T>C c.2972T>C (p.Val991Ala) n.1887T>C n.989T>C c.5105T>C (p.Val1702Ala) c.5147T>C (p.Val1716Ala) c.5126T>C (p.Val1709Ala) c.5120T>C (p.Val1707Ala) c.5099T>C (p.Val1700Ala) c.4010T>C (p.Val1337Ala) c.5108T>C (p.Val1703Ala) n.990T>C | dbSNP |
11 | g.70473284A>T | CA381676320 | SHANK2 | c.3368T>A (p.Val1123Asp) c.913T>A (n.913T>A) c.5135T>A (p.Val1712Asp) c.2644T>A c.3998T>A (p.Val1333Asp) c.3425T>A (p.Val1142Asp) c.3371T>A (p.Val1124Asp) c.*139T>A (n.*139T>A) c.3347T>A (p.Val1116Asp) c.911T>A c.2972T>A (p.Val991Asp) n.1887T>A n.989T>A c.5105T>A (p.Val1702Asp) c.5147T>A (p.Val1716Asp) c.5126T>A (p.Val1709Asp) c.5120T>A (p.Val1707Asp) c.5099T>A (p.Val1700Asp) c.4010T>A (p.Val1337Asp) c.5108T>A (p.Val1703Asp) n.990T>A | |
11 | g.70473285C>A | CA381676321 | SHANK2 | c.3367G>T (p.Val1123Phe) c.912G>T (n.912G>T) c.5134G>T (p.Val1712Phe) c.2643G>T c.3997G>T (p.Val1333Phe) c.3424G>T (p.Val1142Phe) c.3370G>T (p.Val1124Phe) c.*138G>T (n.*138G>T) c.3346G>T (p.Val1116Phe) c.910G>T c.2971G>T (p.Val991Phe) n.1886G>T n.988G>T c.5104G>T (p.Val1702Phe) c.5146G>T (p.Val1716Phe) c.5125G>T (p.Val1709Phe) c.5119G>T (p.Val1707Phe) c.5098G>T (p.Val1700Phe) c.4009G>T (p.Val1337Phe) c.5107G>T (p.Val1703Phe) n.989G>T | |
11 | g.70473285C= | CA1981067984 | SHANK2 | c.3367G= (p.Val1123=) c.912G= (n.912G=) c.5134G= (p.Val1712=) c.2643G= c.3997G= (p.Val1333=) c.3424G= (p.Val1142=) c.3370G= (p.Val1124=) c.*138G= (n.*138G=) c.3346G= (p.Val1116=) c.910G= c.2971G= (p.Val991=) n.1886G= n.988G= c.5104G= (p.Val1702=) c.5146G= (p.Val1716=) c.5125G= (p.Val1709=) c.5119G= (p.Val1707=) c.5098G= (p.Val1700=) c.4009G= (p.Val1337=) c.5107G= (p.Val1703=) n.989G= | |
11 | g.70473285C>G | CA381676322 | SHANK2 | c.3367G>C (p.Val1123Leu) c.912G>C (n.912G>C) c.5134G>C (p.Val1712Leu) c.2643G>C c.3997G>C (p.Val1333Leu) c.3424G>C (p.Val1142Leu) c.3370G>C (p.Val1124Leu) c.*138G>C (n.*138G>C) c.3346G>C (p.Val1116Leu) c.910G>C c.2971G>C (p.Val991Leu) n.1886G>C n.988G>C c.5104G>C (p.Val1702Leu) c.5146G>C (p.Val1716Leu) c.5125G>C (p.Val1709Leu) c.5119G>C (p.Val1707Leu) c.5098G>C (p.Val1700Leu) c.4009G>C (p.Val1337Leu) c.5107G>C (p.Val1703Leu) n.989G>C | |
11 | g.70473285C>T | CA381676323 | SHANK2 | c.3367G>A (p.Val1123Ile) c.912G>A (n.912G>A) c.5134G>A (p.Val1712Ile) c.2643G>A c.3997G>A (p.Val1333Ile) c.3424G>A (p.Val1142Ile) c.3370G>A (p.Val1124Ile) c.*138G>A (n.*138G>A) c.3346G>A (p.Val1116Ile) c.910G>A c.2971G>A (p.Val991Ile) n.1886G>A n.988G>A c.5104G>A (p.Val1702Ile) c.5146G>A (p.Val1716Ile) c.5125G>A (p.Val1709Ile) c.5119G>A (p.Val1707Ile) c.5098G>A (p.Val1700Ile) c.4009G>A (p.Val1337Ile) c.5107G>A (p.Val1703Ile) n.989G>A | dbSNP gnomAD v4 |
11 | g.70473286C>A | CA475470716 | SHANK2 | c.3366G>T (p.Val1122=) c.911G>T (n.911G>T) c.5133G>T (p.Val1711=) c.2642G>T c.3996G>T (p.Val1332=) c.3423G>T (p.Val1141=) c.3369G>T (p.Val1123=) c.*137G>T (n.*137G>T) c.3345G>T (p.Val1115=) c.909G>T c.2970G>T (p.Val990=) n.1885G>T n.987G>T c.5103G>T (p.Val1701=) c.5145G>T (p.Val1715=) c.5124G>T (p.Val1708=) c.5118G>T (p.Val1706=) c.5097G>T (p.Val1699=) c.4008G>T (p.Val1336=) c.5106G>T (p.Val1702=) n.988G>T | dbSNP |
11 | g.70473286C= | CA1981067985 | SHANK2 | c.3366G= (p.Val1122=) c.911G= (n.911G=) c.5133G= (p.Val1711=) c.2642G= c.3996G= (p.Val1332=) c.3423G= (p.Val1141=) c.3369G= (p.Val1123=) c.*137G= (n.*137G=) c.3345G= (p.Val1115=) c.909G= c.2970G= (p.Val990=) n.1885G= n.987G= c.5103G= (p.Val1701=) c.5145G= (p.Val1715=) c.5124G= (p.Val1708=) c.5118G= (p.Val1706=) c.5097G= (p.Val1699=) c.4008G= (p.Val1336=) c.5106G= (p.Val1702=) n.988G= | |
11 | g.70473286C>G | CA475470718 | SHANK2 | c.3366G>C (p.Val1122=) c.911G>C (n.911G>C) c.5133G>C (p.Val1711=) c.2642G>C c.3996G>C (p.Val1332=) c.3423G>C (p.Val1141=) c.3369G>C (p.Val1123=) c.*137G>C (n.*137G>C) c.3345G>C (p.Val1115=) c.909G>C c.2970G>C (p.Val990=) n.1885G>C n.987G>C c.5103G>C (p.Val1701=) c.5145G>C (p.Val1715=) c.5124G>C (p.Val1708=) c.5118G>C (p.Val1706=) c.5097G>C (p.Val1699=) c.4008G>C (p.Val1336=) c.5106G>C (p.Val1702=) n.988G>C | |
11 | g.70473286C>T | CA475470717 | SHANK2 | c.3366G>A (p.Val1122=) c.911G>A (n.911G>A) c.5133G>A (p.Val1711=) c.2642G>A c.3996G>A (p.Val1332=) c.3423G>A (p.Val1141=) c.3369G>A (p.Val1123=) c.*137G>A (n.*137G>A) c.3345G>A (p.Val1115=) c.909G>A c.2970G>A (p.Val990=) n.1885G>A n.987G>A c.5103G>A (p.Val1701=) c.5145G>A (p.Val1715=) c.5124G>A (p.Val1708=) c.5118G>A (p.Val1706=) c.5097G>A (p.Val1699=) c.4008G>A (p.Val1336=) c.5106G>A (p.Val1702=) n.988G>A | |
11 | g.70473287A>C | CA381676326 | SHANK2 | c.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 | |
11 | g.70473287A>G | CA381676324 | SHANK2 | c.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 | |
11 | g.70473287A>T | CA381676325 | SHANK2 | c.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 | |
11 | g.70473288C>A | CA381676327 | SHANK2 | c.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 |
11 | g.70473288C>G | CA381676328 | SHANK2 | c.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 | |
11 | g.70473288C>T | CA381676329 | SHANK2 | c.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 | |
11 | g.70473289A>C | CA475470719 | SHANK2 | c.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 | |
11 | g.70473289A>G | CA475470720 | SHANK2 | c.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 | |
11 | g.70473289A>T | CA475470721 | SHANK2 | c.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 | |
11 | g.70473290G>A | CA381676330 | SHANK2 | c.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 |
11 | g.70473290G>C | CA381676331 | SHANK2 | c.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 | |
11 | g.70473290G= | CA1981067986 | SHANK2 | c.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= | |
11 | g.70473290G>T | CA381676332 | SHANK2 | c.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 | |
11 | g.70473291G>A | CA381676335 | SHANK2 | c.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 | |
11 | g.70473291G>C | CA381676333 | SHANK2 | c.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 | |
11 | g.70473291G>T | CA381676334 | SHANK2 | c.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 | |
11 | g.70473292G>A | CA475470722 | SHANK2 | c.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 |
11 | g.70473292G>C | CA381676336 | SHANK2 | c.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 | |
11 | g.70473292G= | CA1981067987 | SHANK2 | c.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= | |
11 | g.70473292G>T | CA6160765 | SHANK2 | c.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 |
11 | g.70473293C>A | CA381676337 | SHANK2 | c.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 |
11 | g.70473293C>G | CA381676338 | SHANK2 | c.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 | |
11 | g.70473293C>T | CA381676339 | SHANK2 | c.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 | |
11 | g.70473294T>A | CA381676340 | SHANK2 | c.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 | |
11 | g.70473294T>C | CA381676342 | SHANK2 | c.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 | |
11 | g.70473294T>G | CA381676341 | SHANK2 | c.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 | |
11 | g.70473295T>A | CA475470725 | SHANK2 | c.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 | |
11 | g.70473295T>C | CA475470726 | SHANK2 | c.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 |
11 | g.70473295T>G | CA475470727 | SHANK2 | c.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 | |
11 | g.70473295T= | CA1981067988 | SHANK2 | c.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= | |
11 | g.70473296G>A | CA381676343 | SHANK2 | c.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 | |
11 | g.70473296G>C | CA381676344 | SHANK2 | c.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 | |
11 | g.70473296G>T | CA381676345 | SHANK2 | c.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 | |
11 | g.70473297G>A | CA381676346 | SHANK2 | c.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 |
11 | g.70473297G>C | CA381676347 | SHANK2 | c.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 | |
11 | g.70473297G= | CA1981067989 | SHANK2 | c.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= | |
11 | g.70473297G>T | CA381676348 | SHANK2 | c.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 | |
11 | g.70473298G>A | CA475470728 | SHANK2 | c.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 | |
11 | g.70473298G>C | CA475470729 | SHANK2 | c.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 | |
11 | g.70473298G>T | CA475470730 | SHANK2 | c.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 | |
11 | g.70473299G>A | CA381676349 | SHANK2 | c.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 | |
11 | g.70473299G>C | CA381676350 | SHANK2 | c.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 | |
11 | g.70473299G>T | CA381676351 | SHANK2 | c.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 |
11 | g.70473300C>A | CA381676352 | SHANK2 | c.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 | |
11 | g.70473300C>G | CA381676353 | SHANK2 | c.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 | |
11 | g.70473300C>T | CA381676354 | SHANK2 | c.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 | |
11 | g.70473301A= | CA1981067990 | SHANK2 | c.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= | |
11 | g.70473301A>C | CA475470731 | SHANK2 | c.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 | |
11 | g.70473301A>G | CA475470732 | SHANK2 | c.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 |
11 | g.70473301A>T | CA475470733 | SHANK2 | c.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 | |
11 | g.70473302C>A | CA381676355 | SHANK2 | c.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 | |
11 | g.70473302C= | CA1981067991 | SHANK2 | c.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= | |
11 | g.70473302C>G | CA381676356 | SHANK2 | c.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 | |
11 | g.70473302C>T | CA6160766 | SHANK2 | c.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 |
11 | g.70473303G>A | CA6160767 | SHANK2 | c.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 |
11 | g.70473303G>C | CA381676357 | SHANK2 | c.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 | |
11 | g.70473303G= | CA1981067992 | SHANK2 | c.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= | |
11 | g.70473303G>T | CA6160768 | SHANK2 | c.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 |
11 | g.70473304T>A | CA381676358 | SHANK2 | c.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 |
11 | g.70473304T>C | CA475470734 | SHANK2 | c.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 | |
11 | g.70473304T>G | CA381676359 | SHANK2 | c.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 | |
11 | g.70473304T= | CA1981067993 | SHANK2 | c.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= | |
11 | g.70473305C>A | CA381676362 | SHANK2 | c.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 | |
11 | g.70473305C>G | CA381676360 | SHANK2 | c.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 | |
11 | g.70473305C>T | CA381676361 | SHANK2 | c.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 | |
11 | g.70473306T>A | CA381676363 | SHANK2 | c.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 | |
11 | g.70473306T>C | CA381676364 | SHANK2 | c.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 |
11 | g.70473306T>G | CA475470735 | SHANK2 | c.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 | |
11 | g.70473307T>A | CA475470738 | SHANK2 | c.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 | |
11 | g.70473307T>C | CA475470737 | SHANK2 | c.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 | |
11 | g.70473307T>G | CA475470736 | SHANK2 | c.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 | |
11 | g.70473308G>A | CA381676365 | SHANK2 | c.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 |
11 | g.70473308G>C | CA381676366 | SHANK2 | c.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 | |
11 | g.70473308G>T | CA381676367 | SHANK2 | c.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 | |
11 | g.70473309T>A | CA381676370 | SHANK2 | c.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 | |
11 | g.70473309T>C | CA381676369 | SHANK2 | c.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 |
11 | g.70473309T>G | CA381676368 | SHANK2 | c.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 | |
11 | g.70473310T>A | CA475470739 | SHANK2 | c.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 | |
11 | g.70473310T>C | CA475470740 | SHANK2 | c.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 | |
11 | g.70473310T>G | CA475470741 | SHANK2 | c.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 | |
11 | g.70473311C>A | CA381676371 | SHANK2 | c.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 | |
11 | g.70473311C>G | CA381676373 | SHANK2 | c.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 |
11 | g.70473311C>T | CA381676372 | SHANK2 | c.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 | |
11 | g.70473312C>A | CA381676374 | SHANK2 | c.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 | |
11 | g.70473312C>G | CA381676376 | SHANK2 | c.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 | |
11 | g.70473312C>T | CA381676375 | SHANK2 | c.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 | |
11 | g.70473313T>A | CA475470742 | SHANK2 | c.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 | |
11 | g.70473313T>C | CA475470744 | SHANK2 | c.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 | |
11 | g.70473313T>G | CA475470743 | SHANK2 | c.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 | |
11 | g.70473314G>A | CA381676377 | SHANK2 | c.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 |
11 | g.70473314G>C | CA381676379 | SHANK2 | c.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 | |
11 | g.70473314G= | CA1981067994 | SHANK2 | c.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= | |
11 | g.70473314G>T | CA381676378 | SHANK2 | c.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 | |
11 | g.70473315A= | CA1981067995 | SHANK2 | c.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= | |
11 | g.70473315A>C | CA381676380 | SHANK2 | c.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 | |
11 | g.70473315A>G | CA381676381 | SHANK2 | c.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 | |
11 | g.70473315A>T | CA6160769 | SHANK2 | c.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 |
11 | g.70473316G>A | CA6160770 | SHANK2 | c.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 |
11 | g.70473316G>C | CA475470745 | SHANK2 | c.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 | |
11 | g.70473316G= | CA1981067996 | SHANK2 | c.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= | |
11 | g.70473316G>T | CA475470746 | SHANK2 | c.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 | |
11 | g.70473317G>A | CA6160771 | SHANK2 | c.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 |
11 | g.70473317G>C | CA381676382 | SHANK2 | c.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 | |
11 | g.70473317G= | CA1981067997 | SHANK2 | c.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= | |
11 | g.70473317G>T | CA381676383 | SHANK2 | c.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 | |
11 | g.70473318T>A | CA381676384 | SHANK2 | c.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 | |
11 | g.70473318T>C | CA381676385 | SHANK2 | c.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 | |
11 | g.70473318T>G | CA381676386 | SHANK2 | c.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 | |
11 | g.70473319C>A | CA381676387 | SHANK2 | c.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 | |
11 | g.70473319C= | CA1981067998 | SHANK2 | c.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= | |
11 | g.70473319C>G | CA381676388 | SHANK2 | c.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 | |
11 | g.70473319C>T | CA475470747 | SHANK2 | c.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 |
11 | g.70473320C>A | CA381676389 | SHANK2 | c.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 | |
11 | g.70473320C>G | CA381676390 | SHANK2 | c.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 | |
11 | g.70473320C>T | CA381676391 | SHANK2 | c.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 | |
11 | g.70473321T>A | CA381676392 | SHANK2 | c.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 | |
11 | g.70473321T>C | CA381676393 | SHANK2 | c.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 |
11 | g.70473321T>G | CA475470748 | SHANK2 | c.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 |
11 | g.70473321T= | CA1981067999 | SHANK2 | c.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= | |
11 | g.70473322G>A | CA475470749 | SHANK2 | c.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 | |
11 | g.70473322G>C | CA381676394 | SHANK2 | c.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 | |
11 | g.70473322G>T | CA381676395 | SHANK2 | c.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 | |
11 | g.70473323C>A | CA381676396 | SHANK2 | c.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 |
11 | g.70473323C= | CA1981068000 | SHANK2 | c.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= | |
11 | g.70473323C>G | CA381676397 | SHANK2 | c.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 | |
11 | g.70473323C>T | CA381676398 | SHANK2 | c.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 |
11 | g.70473324T>A | CA381676399 | SHANK2 | c.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 | |
11 | g.70473324T>C | CA381676400 | SHANK2 | c.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 |
11 | g.70473324T>G | CA381676401 | SHANK2 | c.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 | |
11 | g.70473324T= | CA1981068001 | SHANK2 | c.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= | |
11 | g.70473325T>A | CA381676402 | SHANK2 | c.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 | |
11 | g.70473325T>C | CA475470750 | SHANK2 | c.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 | |
11 | g.70473325T>G | CA381676403 | SHANK2 | c.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 | |
11 | g.70473326T>A | CA381676404 | SHANK2 | c.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 | |
11 | g.70473326T>C | CA381676405 | SHANK2 | c.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 |
11 | g.70473326T>G | CA381676406 | SHANK2 | c.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 |