Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.70486001_70486015delCA2614838665SHANK2c.2513_2527del (p.Arg838_Val842del)
c.757+4290_757+4304del (n.757+4290_757+4304del)
c.4280_4294del (p.Arg1427_Val1431del)
c.1708_1722del
c.3143_3157del (p.Arg1048_Val1052del)
c.2570_2584del (p.Arg857_Val861del)
c.2516_2530del (p.Arg839_Val843del)
c.718+4290_718+4304del (n.718+4290_718+4304del)
c.2492_2506del (p.Arg831_Val835del)
c.755+4290_755+4304del
c.2117_2131del (p.Arg706_Val710del)
n.833+4290_833+4304del
c.4250_4264del (p.Arg1417_Val1421del)
c.4292_4306del (p.Arg1431_Val1435del)
c.4271_4285del (p.Arg1424_Val1428del)
c.4265_4279del (p.Arg1422_Val1426del)
c.4244_4258del (p.Arg1415_Val1419del)
c.3155_3169del (p.Arg1052_Val1056del)
c.4253_4267del (p.Arg1418_Val1422del)
n.834+4290_834+4304del
 gnomAD v4
11g.70486006delCA2614838673SHANK2c.2521del (p.Ser841LeufsTer8)
c.757+4298del (n.757+4298del)
c.4288del (p.Ser1430LeufsTer8)
c.1716del
c.3151del (p.Ser1051LeufsTer8)
c.2578del (p.Ser860LeufsTer8)
c.2524del (p.Ser842LeufsTer8)
c.718+4298del (n.718+4298del)
c.2500del (p.Ser834LeufsTer8)
c.755+4298del
c.2125del (p.Ser709LeufsTer8)
n.833+4298del
c.4258del (p.Ser1420LeufsTer8)
c.4300del (p.Ser1434LeufsTer8)
c.4279del (p.Ser1427LeufsTer8)
c.4273del (p.Ser1425LeufsTer8)
c.4252del (p.Ser1418LeufsTer8)
c.3163del (p.Ser1055LeufsTer8)
c.4261del (p.Ser1421LeufsTer8)
n.834+4298del
 gnomAD v4
11g.70486006A=CA1981074254SHANK2c.2520T= (p.Ala840=)
c.757+4297T= (n.757+4297T=)
c.4287T= (p.Ala1429=)
c.1715T=
c.3150T= (p.Ala1050=)
c.2577T= (p.Ala859=)
c.2523T= (p.Ala841=)
c.718+4297T= (n.718+4297T=)
c.2499T= (p.Ala833=)
c.755+4297T=
c.2124T= (p.Ala708=)
n.833+4297T=
c.4257T= (p.Ala1419=)
c.4299T= (p.Ala1433=)
c.4278T= (p.Ala1426=)
c.4272T= (p.Ala1424=)
c.4251T= (p.Ala1417=)
c.3162T= (p.Ala1054=)
c.4260T= (p.Ala1420=)
n.834+4297T=
11g.70486006A>CCA475471242SHANK2c.2520T>G (p.Ala840=)
c.757+4297T>G (n.757+4297T>G)
c.4287T>G (p.Ala1429=)
c.1715T>G
c.3150T>G (p.Ala1050=)
c.2577T>G (p.Ala859=)
c.2523T>G (p.Ala841=)
c.718+4297T>G (n.718+4297T>G)
c.2499T>G (p.Ala833=)
c.755+4297T>G
c.2124T>G (p.Ala708=)
n.833+4297T>G
c.4257T>G (p.Ala1419=)
c.4299T>G (p.Ala1433=)
c.4278T>G (p.Ala1426=)
c.4272T>G (p.Ala1424=)
c.4251T>G (p.Ala1417=)
c.3162T>G (p.Ala1054=)
c.4260T>G (p.Ala1420=)
n.834+4297T>G
 dbSNP gnomAD v3 gnomAD v4
11g.70486006A>GCA6160945SHANK2c.2520T>C (p.Ala840=)
c.757+4297T>C (n.757+4297T>C)
c.4287T>C (p.Ala1429=)
c.1715T>C
c.3150T>C (p.Ala1050=)
c.2577T>C (p.Ala859=)
c.2523T>C (p.Ala841=)
c.718+4297T>C (n.718+4297T>C)
c.2499T>C (p.Ala833=)
c.755+4297T>C
c.2124T>C (p.Ala708=)
n.833+4297T>C
c.4257T>C (p.Ala1419=)
c.4299T>C (p.Ala1433=)
c.4278T>C (p.Ala1426=)
c.4272T>C (p.Ala1424=)
c.4251T>C (p.Ala1417=)
c.3162T>C (p.Ala1054=)
c.4260T>C (p.Ala1420=)
n.834+4297T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70486006A>TCA475471244SHANK2c.2520T>A (p.Ala840=)
c.757+4297T>A (n.757+4297T>A)
c.4287T>A (p.Ala1429=)
c.1715T>A
c.3150T>A (p.Ala1050=)
c.2577T>A (p.Ala859=)
c.2523T>A (p.Ala841=)
c.718+4297T>A (n.718+4297T>A)
c.2499T>A (p.Ala833=)
c.755+4297T>A
c.2124T>A (p.Ala708=)
n.833+4297T>A
c.4257T>A (p.Ala1419=)
c.4299T>A (p.Ala1433=)
c.4278T>A (p.Ala1426=)
c.4272T>A (p.Ala1424=)
c.4251T>A (p.Ala1417=)
c.3162T>A (p.Ala1054=)
c.4260T>A (p.Ala1420=)
n.834+4297T>A
11g.70486007G>ACA381683003SHANK2c.2519C>T (p.Ala840Val)
c.757+4296C>T (n.757+4296C>T)
c.4286C>T (p.Ala1429Val)
c.1714C>T
c.3149C>T (p.Ala1050Val)
c.2576C>T (p.Ala859Val)
c.2522C>T (p.Ala841Val)
c.718+4296C>T (n.718+4296C>T)
c.2498C>T (p.Ala833Val)
c.755+4296C>T
c.2123C>T (p.Ala708Val)
n.833+4296C>T
c.4256C>T (p.Ala1419Val)
c.4298C>T (p.Ala1433Val)
c.4277C>T (p.Ala1426Val)
c.4271C>T (p.Ala1424Val)
c.4250C>T (p.Ala1417Val)
c.3161C>T (p.Ala1054Val)
c.4259C>T (p.Ala1420Val)
n.834+4296C>T
11g.70486007G>CCA381683004SHANK2c.2519C>G (p.Ala840Gly)
c.757+4296C>G (n.757+4296C>G)
c.4286C>G (p.Ala1429Gly)
c.1714C>G
c.3149C>G (p.Ala1050Gly)
c.2576C>G (p.Ala859Gly)
c.2522C>G (p.Ala841Gly)
c.718+4296C>G (n.718+4296C>G)
c.2498C>G (p.Ala833Gly)
c.755+4296C>G
c.2123C>G (p.Ala708Gly)
n.833+4296C>G
c.4256C>G (p.Ala1419Gly)
c.4298C>G (p.Ala1433Gly)
c.4277C>G (p.Ala1426Gly)
c.4271C>G (p.Ala1424Gly)
c.4250C>G (p.Ala1417Gly)
c.3161C>G (p.Ala1054Gly)
c.4259C>G (p.Ala1420Gly)
n.834+4296C>G
11g.70486007G>TCA381683007SHANK2c.2519C>A (p.Ala840Asp)
c.757+4296C>A (n.757+4296C>A)
c.4286C>A (p.Ala1429Asp)
c.1714C>A
c.3149C>A (p.Ala1050Asp)
c.2576C>A (p.Ala859Asp)
c.2522C>A (p.Ala841Asp)
c.718+4296C>A (n.718+4296C>A)
c.2498C>A (p.Ala833Asp)
c.755+4296C>A
c.2123C>A (p.Ala708Asp)
n.833+4296C>A
c.4256C>A (p.Ala1419Asp)
c.4298C>A (p.Ala1433Asp)
c.4277C>A (p.Ala1426Asp)
c.4271C>A (p.Ala1424Asp)
c.4250C>A (p.Ala1417Asp)
c.3161C>A (p.Ala1054Asp)
c.4259C>A (p.Ala1420Asp)
n.834+4296C>A
11g.70486008C>ACA381683014SHANK2c.2518G>T (p.Ala840Ser)
c.757+4295G>T (n.757+4295G>T)
c.4285G>T (p.Ala1429Ser)
c.1713G>T
c.3148G>T (p.Ala1050Ser)
c.2575G>T (p.Ala859Ser)
c.2521G>T (p.Ala841Ser)
c.718+4295G>T (n.718+4295G>T)
c.2497G>T (p.Ala833Ser)
c.755+4295G>T
c.2122G>T (p.Ala708Ser)
n.833+4295G>T
c.4255G>T (p.Ala1419Ser)
c.4297G>T (p.Ala1433Ser)
c.4276G>T (p.Ala1426Ser)
c.4270G>T (p.Ala1424Ser)
c.4249G>T (p.Ala1417Ser)
c.3160G>T (p.Ala1054Ser)
c.4258G>T (p.Ala1420Ser)
n.834+4295G>T
11g.70486008C=CA1981074262SHANK2c.2518G= (p.Ala840=)
c.757+4295G= (n.757+4295G=)
c.4285G= (p.Ala1429=)
c.1713G=
c.3148G= (p.Ala1050=)
c.2575G= (p.Ala859=)
c.2521G= (p.Ala841=)
c.718+4295G= (n.718+4295G=)
c.2497G= (p.Ala833=)
c.755+4295G=
c.2122G= (p.Ala708=)
n.833+4295G=
c.4255G= (p.Ala1419=)
c.4297G= (p.Ala1433=)
c.4276G= (p.Ala1426=)
c.4270G= (p.Ala1424=)
c.4249G= (p.Ala1417=)
c.3160G= (p.Ala1054=)
c.4258G= (p.Ala1420=)
n.834+4295G=
11g.70486008C>GCA381683012SHANK2c.2518G>C (p.Ala840Pro)
c.757+4295G>C (n.757+4295G>C)
c.4285G>C (p.Ala1429Pro)
c.1713G>C
c.3148G>C (p.Ala1050Pro)
c.2575G>C (p.Ala859Pro)
c.2521G>C (p.Ala841Pro)
c.718+4295G>C (n.718+4295G>C)
c.2497G>C (p.Ala833Pro)
c.755+4295G>C
c.2122G>C (p.Ala708Pro)
n.833+4295G>C
c.4255G>C (p.Ala1419Pro)
c.4297G>C (p.Ala1433Pro)
c.4276G>C (p.Ala1426Pro)
c.4270G>C (p.Ala1424Pro)
c.4249G>C (p.Ala1417Pro)
c.3160G>C (p.Ala1054Pro)
c.4258G>C (p.Ala1420Pro)
n.834+4295G>C
11g.70486008C>TCA6160946SHANK2c.2518G>A (p.Ala840Thr)
c.757+4295G>A (n.757+4295G>A)
c.4285G>A (p.Ala1429Thr)
c.1713G>A
c.3148G>A (p.Ala1050Thr)
c.2575G>A (p.Ala859Thr)
c.2521G>A (p.Ala841Thr)
c.718+4295G>A (n.718+4295G>A)
c.2497G>A (p.Ala833Thr)
c.755+4295G>A
c.2122G>A (p.Ala708Thr)
n.833+4295G>A
c.4255G>A (p.Ala1419Thr)
c.4297G>A (p.Ala1433Thr)
c.4276G>A (p.Ala1426Thr)
c.4270G>A (p.Ala1424Thr)
c.4249G>A (p.Ala1417Thr)
c.3160G>A (p.Ala1054Thr)
c.4258G>A (p.Ala1420Thr)
n.834+4295G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70486008_70486009delCA2614838683SHANK2c.2517_2518del (p.Ala840PhefsTer?)
c.757+4294_757+4295del (n.757+4294_757+4295del)
c.4284_4285del (p.Ala1429PhefsTer?)
c.1712_1713del
c.3147_3148del (p.Ala1050PhefsTer?)
c.2574_2575del (p.Ala859PhefsTer?)
c.2520_2521del (p.Ala841PhefsTer?)
c.718+4294_718+4295del (n.718+4294_718+4295del)
c.2496_2497del (p.Ala833PhefsTer?)
c.755+4294_755+4295del
c.2121_2122del (p.Ala708PhefsTer?)
n.833+4294_833+4295del
c.4254_4255del (p.Ala1419PhefsTer?)
c.4296_4297del (p.Ala1433PhefsTer?)
c.4275_4276del (p.Ala1426PhefsTer?)
c.4269_4270del (p.Ala1424PhefsTer?)
c.4248_4249del (p.Ala1417PhefsTer?)
c.3159_3160del (p.Ala1054PhefsTer?)
c.4257_4258del (p.Ala1420PhefsTer?)
n.834+4294_834+4295del
 gnomAD v4
11g.70486009T>ACA475471249SHANK2c.2517A>T (p.Ala839=)
c.757+4294A>T (n.757+4294A>T)
c.4284A>T (p.Ala1428=)
c.1712A>T
c.3147A>T (p.Ala1049=)
c.2574A>T (p.Ala858=)
c.2520A>T (p.Ala840=)
c.718+4294A>T (n.718+4294A>T)
c.2496A>T (p.Ala832=)
c.755+4294A>T
c.2121A>T (p.Ala707=)
n.833+4294A>T
c.4254A>T (p.Ala1418=)
c.4296A>T (p.Ala1432=)
c.4275A>T (p.Ala1425=)
c.4269A>T (p.Ala1423=)
c.4248A>T (p.Ala1416=)
c.3159A>T (p.Ala1053=)
c.4257A>T (p.Ala1419=)
n.834+4294A>T
11g.70486009T>CCA475471247SHANK2c.2517A>G (p.Ala839=)
c.757+4294A>G (n.757+4294A>G)
c.4284A>G (p.Ala1428=)
c.1712A>G
c.3147A>G (p.Ala1049=)
c.2574A>G (p.Ala858=)
c.2520A>G (p.Ala840=)
c.718+4294A>G (n.718+4294A>G)
c.2496A>G (p.Ala832=)
c.755+4294A>G
c.2121A>G (p.Ala707=)
n.833+4294A>G
c.4254A>G (p.Ala1418=)
c.4296A>G (p.Ala1432=)
c.4275A>G (p.Ala1425=)
c.4269A>G (p.Ala1423=)
c.4248A>G (p.Ala1416=)
c.3159A>G (p.Ala1053=)
c.4257A>G (p.Ala1419=)
n.834+4294A>G
 gnomAD v4
11g.70486009T>GCA475471248SHANK2c.2517A>C (p.Ala839=)
c.757+4294A>C (n.757+4294A>C)
c.4284A>C (p.Ala1428=)
c.1712A>C
c.3147A>C (p.Ala1049=)
c.2574A>C (p.Ala858=)
c.2520A>C (p.Ala840=)
c.718+4294A>C (n.718+4294A>C)
c.2496A>C (p.Ala832=)
c.755+4294A>C
c.2121A>C (p.Ala707=)
n.833+4294A>C
c.4254A>C (p.Ala1418=)
c.4296A>C (p.Ala1432=)
c.4275A>C (p.Ala1425=)
c.4269A>C (p.Ala1423=)
c.4248A>C (p.Ala1416=)
c.3159A>C (p.Ala1053=)
c.4257A>C (p.Ala1419=)
n.834+4294A>C
11g.70486010G>ACA381683017SHANK2c.2516C>T (p.Ala839Val)
c.757+4293C>T (n.757+4293C>T)
c.4283C>T (p.Ala1428Val)
c.1711C>T
c.3146C>T (p.Ala1049Val)
c.2573C>T (p.Ala858Val)
c.2519C>T (p.Ala840Val)
c.718+4293C>T (n.718+4293C>T)
c.2495C>T (p.Ala832Val)
c.755+4293C>T
c.2120C>T (p.Ala707Val)
n.833+4293C>T
c.4253C>T (p.Ala1418Val)
c.4295C>T (p.Ala1432Val)
c.4274C>T (p.Ala1425Val)
c.4268C>T (p.Ala1423Val)
c.4247C>T (p.Ala1416Val)
c.3158C>T (p.Ala1053Val)
c.4256C>T (p.Ala1419Val)
n.834+4293C>T
11g.70486010G>CCA381683021SHANK2c.2516C>G (p.Ala839Gly)
c.757+4293C>G (n.757+4293C>G)
c.4283C>G (p.Ala1428Gly)
c.1711C>G
c.3146C>G (p.Ala1049Gly)
c.2573C>G (p.Ala858Gly)
c.2519C>G (p.Ala840Gly)
c.718+4293C>G (n.718+4293C>G)
c.2495C>G (p.Ala832Gly)
c.755+4293C>G
c.2120C>G (p.Ala707Gly)
n.833+4293C>G
c.4253C>G (p.Ala1418Gly)
c.4295C>G (p.Ala1432Gly)
c.4274C>G (p.Ala1425Gly)
c.4268C>G (p.Ala1423Gly)
c.4247C>G (p.Ala1416Gly)
c.3158C>G (p.Ala1053Gly)
c.4256C>G (p.Ala1419Gly)
n.834+4293C>G
11g.70486010G>TCA381683019SHANK2c.2516C>A (p.Ala839Glu)
c.757+4293C>A (n.757+4293C>A)
c.4283C>A (p.Ala1428Glu)
c.1711C>A
c.3146C>A (p.Ala1049Glu)
c.2573C>A (p.Ala858Glu)
c.2519C>A (p.Ala840Glu)
c.718+4293C>A (n.718+4293C>A)
c.2495C>A (p.Ala832Glu)
c.755+4293C>A
c.2120C>A (p.Ala707Glu)
n.833+4293C>A
c.4253C>A (p.Ala1418Glu)
c.4295C>A (p.Ala1432Glu)
c.4274C>A (p.Ala1425Glu)
c.4268C>A (p.Ala1423Glu)
c.4247C>A (p.Ala1416Glu)
c.3158C>A (p.Ala1053Glu)
c.4256C>A (p.Ala1419Glu)
n.834+4293C>A
11g.70486011C>ACA381683024SHANK2c.2515G>T (p.Ala839Ser)
c.757+4292G>T (n.757+4292G>T)
c.4282G>T (p.Ala1428Ser)
c.1710G>T
c.3145G>T (p.Ala1049Ser)
c.2572G>T (p.Ala858Ser)
c.2518G>T (p.Ala840Ser)
c.718+4292G>T (n.718+4292G>T)
c.2494G>T (p.Ala832Ser)
c.755+4292G>T
c.2119G>T (p.Ala707Ser)
n.833+4292G>T
c.4252G>T (p.Ala1418Ser)
c.4294G>T (p.Ala1432Ser)
c.4273G>T (p.Ala1425Ser)
c.4267G>T (p.Ala1423Ser)
c.4246G>T (p.Ala1416Ser)
c.3157G>T (p.Ala1053Ser)
c.4255G>T (p.Ala1419Ser)
n.834+4292G>T
11g.70486011C>GCA381683033SHANK2c.2515G>C (p.Ala839Pro)
c.757+4292G>C (n.757+4292G>C)
c.4282G>C (p.Ala1428Pro)
c.1710G>C
c.3145G>C (p.Ala1049Pro)
c.2572G>C (p.Ala858Pro)
c.2518G>C (p.Ala840Pro)
c.718+4292G>C (n.718+4292G>C)
c.2494G>C (p.Ala832Pro)
c.755+4292G>C
c.2119G>C (p.Ala707Pro)
n.833+4292G>C
c.4252G>C (p.Ala1418Pro)
c.4294G>C (p.Ala1432Pro)
c.4273G>C (p.Ala1425Pro)
c.4267G>C (p.Ala1423Pro)
c.4246G>C (p.Ala1416Pro)
c.3157G>C (p.Ala1053Pro)
c.4255G>C (p.Ala1419Pro)
n.834+4292G>C
11g.70486011C>TCA381683026SHANK2c.2515G>A (p.Ala839Thr)
c.757+4292G>A (n.757+4292G>A)
c.4282G>A (p.Ala1428Thr)
c.1710G>A
c.3145G>A (p.Ala1049Thr)
c.2572G>A (p.Ala858Thr)
c.2518G>A (p.Ala840Thr)
c.718+4292G>A (n.718+4292G>A)
c.2494G>A (p.Ala832Thr)
c.755+4292G>A
c.2119G>A (p.Ala707Thr)
n.833+4292G>A
c.4252G>A (p.Ala1418Thr)
c.4294G>A (p.Ala1432Thr)
c.4273G>A (p.Ala1425Thr)
c.4267G>A (p.Ala1423Thr)
c.4246G>A (p.Ala1416Thr)
c.3157G>A (p.Ala1053Thr)
c.4255G>A (p.Ala1419Thr)
n.834+4292G>A
11g.70486012_70486020dupCA2792603934SHANK2c.2507_2515dup (p.Arg838_Ala839insAspAspArg)
c.757+4284_757+4292dup (n.757+4284_757+4292dup)
c.4274_4282dup (p.Arg1427_Ala1428insAspAspArg)
c.1702_1710dup
c.3137_3145dup (p.Arg1048_Ala1049insAspAspArg)
c.2564_2572dup (p.Arg857_Ala858insAspAspArg)
c.2510_2518dup (p.Arg839_Ala840insAspAspArg)
c.718+4284_718+4292dup (n.718+4284_718+4292dup)
c.2486_2494dup (p.Arg831_Ala832insAspAspArg)
c.755+4284_755+4292dup
c.2111_2119dup (p.Arg706_Ala707insAspAspArg)
n.833+4284_833+4292dup
c.4244_4252dup (p.Arg1417_Ala1418insAspAspArg)
c.4286_4294dup (p.Arg1431_Ala1432insAspAspArg)
c.4265_4273dup (p.Arg1424_Ala1425insAspAspArg)
c.4259_4267dup (p.Arg1422_Ala1423insAspAspArg)
c.4238_4246dup (p.Arg1415_Ala1416insAspAspArg)
c.3149_3157dup (p.Arg1052_Ala1053insAspAspArg)
c.4247_4255dup (p.Arg1418_Ala1419insAspAspArg)
n.834+4284_834+4292dup
11g.70486012C>ACA475471255SHANK2c.2514G>T (p.Arg838=)
c.757+4291G>T (n.757+4291G>T)
c.4281G>T (p.Arg1427=)
c.1709G>T
c.3144G>T (p.Arg1048=)
c.2571G>T (p.Arg857=)
c.2517G>T (p.Arg839=)
c.718+4291G>T (n.718+4291G>T)
c.2493G>T (p.Arg831=)
c.755+4291G>T
c.2118G>T (p.Arg706=)
n.833+4291G>T
c.4251G>T (p.Arg1417=)
c.4293G>T (p.Arg1431=)
c.4272G>T (p.Arg1424=)
c.4266G>T (p.Arg1422=)
c.4245G>T (p.Arg1415=)
c.3156G>T (p.Arg1052=)
c.4254G>T (p.Arg1418=)
n.834+4291G>T
11g.70486012C>GCA475471256SHANK2c.2514G>C (p.Arg838=)
c.757+4291G>C (n.757+4291G>C)
c.4281G>C (p.Arg1427=)
c.1709G>C
c.3144G>C (p.Arg1048=)
c.2571G>C (p.Arg857=)
c.2517G>C (p.Arg839=)
c.718+4291G>C (n.718+4291G>C)
c.2493G>C (p.Arg831=)
c.755+4291G>C
c.2118G>C (p.Arg706=)
n.833+4291G>C
c.4251G>C (p.Arg1417=)
c.4293G>C (p.Arg1431=)
c.4272G>C (p.Arg1424=)
c.4266G>C (p.Arg1422=)
c.4245G>C (p.Arg1415=)
c.3156G>C (p.Arg1052=)
c.4254G>C (p.Arg1418=)
n.834+4291G>C
11g.70486012C>TCA475471257SHANK2c.2514G>A (p.Arg838=)
c.757+4291G>A (n.757+4291G>A)
c.4281G>A (p.Arg1427=)
c.1709G>A
c.3144G>A (p.Arg1048=)
c.2571G>A (p.Arg857=)
c.2517G>A (p.Arg839=)
c.718+4291G>A (n.718+4291G>A)
c.2493G>A (p.Arg831=)
c.755+4291G>A
c.2118G>A (p.Arg706=)
n.833+4291G>A
c.4251G>A (p.Arg1417=)
c.4293G>A (p.Arg1431=)
c.4272G>A (p.Arg1424=)
c.4266G>A (p.Arg1422=)
c.4245G>A (p.Arg1415=)
c.3156G>A (p.Arg1052=)
c.4254G>A (p.Arg1418=)
n.834+4291G>A
 gnomAD v4
11g.70486013C>ACA381683036SHANK2c.2513G>T (p.Arg838Leu)
c.757+4290G>T (n.757+4290G>T)
c.4280G>T (p.Arg1427Leu)
c.1708G>T
c.3143G>T (p.Arg1048Leu)
c.2570G>T (p.Arg857Leu)
c.2516G>T (p.Arg839Leu)
c.718+4290G>T (n.718+4290G>T)
c.2492G>T (p.Arg831Leu)
c.755+4290G>T
c.2117G>T (p.Arg706Leu)
n.833+4290G>T
c.4250G>T (p.Arg1417Leu)
c.4292G>T (p.Arg1431Leu)
c.4271G>T (p.Arg1424Leu)
c.4265G>T (p.Arg1422Leu)
c.4244G>T (p.Arg1415Leu)
c.3155G>T (p.Arg1052Leu)
c.4253G>T (p.Arg1418Leu)
n.834+4290G>T
11g.70486013C=CA1981074268SHANK2c.2513G= (p.Arg838=)
c.757+4290G= (n.757+4290G=)
c.4280G= (p.Arg1427=)
c.1708G=
c.3143G= (p.Arg1048=)
c.2570G= (p.Arg857=)
c.2516G= (p.Arg839=)
c.718+4290G= (n.718+4290G=)
c.2492G= (p.Arg831=)
c.755+4290G=
c.2117G= (p.Arg706=)
n.833+4290G=
c.4250G= (p.Arg1417=)
c.4292G= (p.Arg1431=)
c.4271G= (p.Arg1424=)
c.4265G= (p.Arg1422=)
c.4244G= (p.Arg1415=)
c.3155G= (p.Arg1052=)
c.4253G= (p.Arg1418=)
n.834+4290G=
11g.70486013C>GCA381683038SHANK2c.2513G>C (p.Arg838Pro)
c.757+4290G>C (n.757+4290G>C)
c.4280G>C (p.Arg1427Pro)
c.1708G>C
c.3143G>C (p.Arg1048Pro)
c.2570G>C (p.Arg857Pro)
c.2516G>C (p.Arg839Pro)
c.718+4290G>C (n.718+4290G>C)
c.2492G>C (p.Arg831Pro)
c.755+4290G>C
c.2117G>C (p.Arg706Pro)
n.833+4290G>C
c.4250G>C (p.Arg1417Pro)
c.4292G>C (p.Arg1431Pro)
c.4271G>C (p.Arg1424Pro)
c.4265G>C (p.Arg1422Pro)
c.4244G>C (p.Arg1415Pro)
c.3155G>C (p.Arg1052Pro)
c.4253G>C (p.Arg1418Pro)
n.834+4290G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.70486013C>TCA6160947SHANK2c.2513G>A (p.Arg838Gln)
c.757+4290G>A (n.757+4290G>A)
c.4280G>A (p.Arg1427Gln)
c.1708G>A
c.3143G>A (p.Arg1048Gln)
c.2570G>A (p.Arg857Gln)
c.2516G>A (p.Arg839Gln)
c.718+4290G>A (n.718+4290G>A)
c.2492G>A (p.Arg831Gln)
c.755+4290G>A
c.2117G>A (p.Arg706Gln)
n.833+4290G>A
c.4250G>A (p.Arg1417Gln)
c.4292G>A (p.Arg1431Gln)
c.4271G>A (p.Arg1424Gln)
c.4265G>A (p.Arg1422Gln)
c.4244G>A (p.Arg1415Gln)
c.3155G>A (p.Arg1052Gln)
c.4253G>A (p.Arg1418Gln)
n.834+4290G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70486014G>ACA381683053SHANK2c.2512C>T (p.Arg838Trp)
c.757+4289C>T (n.757+4289C>T)
c.4279C>T (p.Arg1427Trp)
c.1707C>T
c.3142C>T (p.Arg1048Trp)
c.2569C>T (p.Arg857Trp)
c.2515C>T (p.Arg839Trp)
c.718+4289C>T (n.718+4289C>T)
c.2491C>T (p.Arg831Trp)
c.755+4289C>T
c.2116C>T (p.Arg706Trp)
n.833+4289C>T
c.4249C>T (p.Arg1417Trp)
c.4291C>T (p.Arg1431Trp)
c.4270C>T (p.Arg1424Trp)
c.4264C>T (p.Arg1422Trp)
c.4243C>T (p.Arg1415Trp)
c.3154C>T (p.Arg1052Trp)
c.4252C>T (p.Arg1418Trp)
n.834+4289C>T
 gnomAD v4
11g.70486014G>CCA381683056SHANK2c.2512C>G (p.Arg838Gly)
c.757+4289C>G (n.757+4289C>G)
c.4279C>G (p.Arg1427Gly)
c.1707C>G
c.3142C>G (p.Arg1048Gly)
c.2569C>G (p.Arg857Gly)
c.2515C>G (p.Arg839Gly)
c.718+4289C>G (n.718+4289C>G)
c.2491C>G (p.Arg831Gly)
c.755+4289C>G
c.2116C>G (p.Arg706Gly)
n.833+4289C>G
c.4249C>G (p.Arg1417Gly)
c.4291C>G (p.Arg1431Gly)
c.4270C>G (p.Arg1424Gly)
c.4264C>G (p.Arg1422Gly)
c.4243C>G (p.Arg1415Gly)
c.3154C>G (p.Arg1052Gly)
c.4252C>G (p.Arg1418Gly)
n.834+4289C>G
 gnomAD v4
11g.70486014G=CA1981074271SHANK2c.2512C= (p.Arg838=)
c.757+4289C= (n.757+4289C=)
c.4279C= (p.Arg1427=)
c.1707C=
c.3142C= (p.Arg1048=)
c.2569C= (p.Arg857=)
c.2515C= (p.Arg839=)
c.718+4289C= (n.718+4289C=)
c.2491C= (p.Arg831=)
c.755+4289C=
c.2116C= (p.Arg706=)
n.833+4289C=
c.4249C= (p.Arg1417=)
c.4291C= (p.Arg1431=)
c.4270C= (p.Arg1424=)
c.4264C= (p.Arg1422=)
c.4243C= (p.Arg1415=)
c.3154C= (p.Arg1052=)
c.4252C= (p.Arg1418=)
n.834+4289C=
11g.70486014G>TCA475471259SHANK2c.2512C>A (p.Arg838=)
c.757+4289C>A (n.757+4289C>A)
c.4279C>A (p.Arg1427=)
c.1707C>A
c.3142C>A (p.Arg1048=)
c.2569C>A (p.Arg857=)
c.2515C>A (p.Arg839=)
c.718+4289C>A (n.718+4289C>A)
c.2491C>A (p.Arg831=)
c.755+4289C>A
c.2116C>A (p.Arg706=)
n.833+4289C>A
c.4249C>A (p.Arg1417=)
c.4291C>A (p.Arg1431=)
c.4270C>A (p.Arg1424=)
c.4264C>A (p.Arg1422=)
c.4243C>A (p.Arg1415=)
c.3154C>A (p.Arg1052=)
c.4252C>A (p.Arg1418=)
n.834+4289C>A
 dbSNP gnomAD v4
11g.70486015G>ACA475471260SHANK2c.2511C>T (p.Asp837=)
c.757+4288C>T (n.757+4288C>T)
c.4278C>T (p.Asp1426=)
c.1706C>T
c.3141C>T (p.Asp1047=)
c.2568C>T (p.Asp856=)
c.2514C>T (p.Asp838=)
c.718+4288C>T (n.718+4288C>T)
c.2490C>T (p.Asp830=)
c.755+4288C>T
c.2115C>T (p.Asp705=)
n.833+4288C>T
c.4248C>T (p.Asp1416=)
c.4290C>T (p.Asp1430=)
c.4269C>T (p.Asp1423=)
c.4263C>T (p.Asp1421=)
c.4242C>T (p.Asp1414=)
c.3153C>T (p.Asp1051=)
c.4251C>T (p.Asp1417=)
n.834+4288C>T
 gnomAD v4
11g.70486015G>CCA381683059SHANK2c.2511C>G (p.Asp837Glu)
c.757+4288C>G (n.757+4288C>G)
c.4278C>G (p.Asp1426Glu)
c.1706C>G
c.3141C>G (p.Asp1047Glu)
c.2568C>G (p.Asp856Glu)
c.2514C>G (p.Asp838Glu)
c.718+4288C>G (n.718+4288C>G)
c.2490C>G (p.Asp830Glu)
c.755+4288C>G
c.2115C>G (p.Asp705Glu)
n.833+4288C>G
c.4248C>G (p.Asp1416Glu)
c.4290C>G (p.Asp1430Glu)
c.4269C>G (p.Asp1423Glu)
c.4263C>G (p.Asp1421Glu)
c.4242C>G (p.Asp1414Glu)
c.3153C>G (p.Asp1051Glu)
c.4251C>G (p.Asp1417Glu)
n.834+4288C>G
11g.70486015G>TCA381683062SHANK2c.2511C>A (p.Asp837Glu)
c.757+4288C>A (n.757+4288C>A)
c.4278C>A (p.Asp1426Glu)
c.1706C>A
c.3141C>A (p.Asp1047Glu)
c.2568C>A (p.Asp856Glu)
c.2514C>A (p.Asp838Glu)
c.718+4288C>A (n.718+4288C>A)
c.2490C>A (p.Asp830Glu)
c.755+4288C>A
c.2115C>A (p.Asp705Glu)
n.833+4288C>A
c.4248C>A (p.Asp1416Glu)
c.4290C>A (p.Asp1430Glu)
c.4269C>A (p.Asp1423Glu)
c.4263C>A (p.Asp1421Glu)
c.4242C>A (p.Asp1414Glu)
c.3153C>A (p.Asp1051Glu)
c.4251C>A (p.Asp1417Glu)
n.834+4288C>A
11g.70486016T>ACA381683065SHANK2c.2510A>T (p.Asp837Val)
c.757+4287A>T (n.757+4287A>T)
c.4277A>T (p.Asp1426Val)
c.1705A>T
c.3140A>T (p.Asp1047Val)
c.2567A>T (p.Asp856Val)
c.2513A>T (p.Asp838Val)
c.718+4287A>T (n.718+4287A>T)
c.2489A>T (p.Asp830Val)
c.755+4287A>T
c.2114A>T (p.Asp705Val)
n.833+4287A>T
c.4247A>T (p.Asp1416Val)
c.4289A>T (p.Asp1430Val)
c.4268A>T (p.Asp1423Val)
c.4262A>T (p.Asp1421Val)
c.4241A>T (p.Asp1414Val)
c.3152A>T (p.Asp1051Val)
c.4250A>T (p.Asp1417Val)
n.834+4287A>T
11g.70486016T>CCA381683068SHANK2c.2510A>G (p.Asp837Gly)
c.757+4287A>G (n.757+4287A>G)
c.4277A>G (p.Asp1426Gly)
c.1705A>G
c.3140A>G (p.Asp1047Gly)
c.2567A>G (p.Asp856Gly)
c.2513A>G (p.Asp838Gly)
c.718+4287A>G (n.718+4287A>G)
c.2489A>G (p.Asp830Gly)
c.755+4287A>G
c.2114A>G (p.Asp705Gly)
n.833+4287A>G
c.4247A>G (p.Asp1416Gly)
c.4289A>G (p.Asp1430Gly)
c.4268A>G (p.Asp1423Gly)
c.4262A>G (p.Asp1421Gly)
c.4241A>G (p.Asp1414Gly)
c.3152A>G (p.Asp1051Gly)
c.4250A>G (p.Asp1417Gly)
n.834+4287A>G
11g.70486016T>GCA381683071SHANK2c.2510A>C (p.Asp837Ala)
c.757+4287A>C (n.757+4287A>C)
c.4277A>C (p.Asp1426Ala)
c.1705A>C
c.3140A>C (p.Asp1047Ala)
c.2567A>C (p.Asp856Ala)
c.2513A>C (p.Asp838Ala)
c.718+4287A>C (n.718+4287A>C)
c.2489A>C (p.Asp830Ala)
c.755+4287A>C
c.2114A>C (p.Asp705Ala)
n.833+4287A>C
c.4247A>C (p.Asp1416Ala)
c.4289A>C (p.Asp1430Ala)
c.4268A>C (p.Asp1423Ala)
c.4262A>C (p.Asp1421Ala)
c.4241A>C (p.Asp1414Ala)
c.3152A>C (p.Asp1051Ala)
c.4250A>C (p.Asp1417Ala)
n.834+4287A>C
11g.70486017C>ACA381683074SHANK2c.2509G>T (p.Asp837Tyr)
c.757+4286G>T (n.757+4286G>T)
c.4276G>T (p.Asp1426Tyr)
c.1704G>T
c.3139G>T (p.Asp1047Tyr)
c.2566G>T (p.Asp856Tyr)
c.2512G>T (p.Asp838Tyr)
c.718+4286G>T (n.718+4286G>T)
c.2488G>T (p.Asp830Tyr)
c.755+4286G>T
c.2113G>T (p.Asp705Tyr)
n.833+4286G>T
c.4246G>T (p.Asp1416Tyr)
c.4288G>T (p.Asp1430Tyr)
c.4267G>T (p.Asp1423Tyr)
c.4261G>T (p.Asp1421Tyr)
c.4240G>T (p.Asp1414Tyr)
c.3151G>T (p.Asp1051Tyr)
c.4249G>T (p.Asp1417Tyr)
n.834+4286G>T
11g.70486017C>GCA381683081SHANK2c.2509G>C (p.Asp837His)
c.757+4286G>C (n.757+4286G>C)
c.4276G>C (p.Asp1426His)
c.1704G>C
c.3139G>C (p.Asp1047His)
c.2566G>C (p.Asp856His)
c.2512G>C (p.Asp838His)
c.718+4286G>C (n.718+4286G>C)
c.2488G>C (p.Asp830His)
c.755+4286G>C
c.2113G>C (p.Asp705His)
n.833+4286G>C
c.4246G>C (p.Asp1416His)
c.4288G>C (p.Asp1430His)
c.4267G>C (p.Asp1423His)
c.4261G>C (p.Asp1421His)
c.4240G>C (p.Asp1414His)
c.3151G>C (p.Asp1051His)
c.4249G>C (p.Asp1417His)
n.834+4286G>C
 gnomAD v4
11g.70486017C>TCA381683083SHANK2c.2509G>A (p.Asp837Asn)
c.757+4286G>A (n.757+4286G>A)
c.4276G>A (p.Asp1426Asn)
c.1704G>A
c.3139G>A (p.Asp1047Asn)
c.2566G>A (p.Asp856Asn)
c.2512G>A (p.Asp838Asn)
c.718+4286G>A (n.718+4286G>A)
c.2488G>A (p.Asp830Asn)
c.755+4286G>A
c.2113G>A (p.Asp705Asn)
n.833+4286G>A
c.4246G>A (p.Asp1416Asn)
c.4288G>A (p.Asp1430Asn)
c.4267G>A (p.Asp1423Asn)
c.4261G>A (p.Asp1421Asn)
c.4240G>A (p.Asp1414Asn)
c.3151G>A (p.Asp1051Asn)
c.4249G>A (p.Asp1417Asn)
n.834+4286G>A
 gnomAD v4
11g.70486018A>CCA381683084SHANK2c.2508T>G (p.Asp836Glu)
c.757+4285T>G (n.757+4285T>G)
c.4275T>G (p.Asp1425Glu)
c.1703T>G
c.3138T>G (p.Asp1046Glu)
c.2565T>G (p.Asp855Glu)
c.2511T>G (p.Asp837Glu)
c.718+4285T>G (n.718+4285T>G)
c.2487T>G (p.Asp829Glu)
c.755+4285T>G
c.2112T>G (p.Asp704Glu)
n.833+4285T>G
c.4245T>G (p.Asp1415Glu)
c.4287T>G (p.Asp1429Glu)
c.4266T>G (p.Asp1422Glu)
c.4260T>G (p.Asp1420Glu)
c.4239T>G (p.Asp1413Glu)
c.3150T>G (p.Asp1050Glu)
c.4248T>G (p.Asp1416Glu)
n.834+4285T>G
11g.70486018A>GCA475471264SHANK2c.2508T>C (p.Asp836=)
c.757+4285T>C (n.757+4285T>C)
c.4275T>C (p.Asp1425=)
c.1703T>C
c.3138T>C (p.Asp1046=)
c.2565T>C (p.Asp855=)
c.2511T>C (p.Asp837=)
c.718+4285T>C (n.718+4285T>C)
c.2487T>C (p.Asp829=)
c.755+4285T>C
c.2112T>C (p.Asp704=)
n.833+4285T>C
c.4245T>C (p.Asp1415=)
c.4287T>C (p.Asp1429=)
c.4266T>C (p.Asp1422=)
c.4260T>C (p.Asp1420=)
c.4239T>C (p.Asp1413=)
c.3150T>C (p.Asp1050=)
c.4248T>C (p.Asp1416=)
n.834+4285T>C
11g.70486018A>TCA381683085SHANK2c.2508T>A (p.Asp836Glu)
c.757+4285T>A (n.757+4285T>A)
c.4275T>A (p.Asp1425Glu)
c.1703T>A
c.3138T>A (p.Asp1046Glu)
c.2565T>A (p.Asp855Glu)
c.2511T>A (p.Asp837Glu)
c.718+4285T>A (n.718+4285T>A)
c.2487T>A (p.Asp829Glu)
c.755+4285T>A
c.2112T>A (p.Asp704Glu)
n.833+4285T>A
c.4245T>A (p.Asp1415Glu)
c.4287T>A (p.Asp1429Glu)
c.4266T>A (p.Asp1422Glu)
c.4260T>A (p.Asp1420Glu)
c.4239T>A (p.Asp1413Glu)
c.3150T>A (p.Asp1050Glu)
c.4248T>A (p.Asp1416Glu)
n.834+4285T>A
 gnomAD v4
11g.70486019T>ACA381683086SHANK2c.2507A>T (p.Asp836Val)
c.757+4284A>T (n.757+4284A>T)
c.4274A>T (p.Asp1425Val)
c.1702A>T
c.3137A>T (p.Asp1046Val)
c.2564A>T (p.Asp855Val)
c.2510A>T (p.Asp837Val)
c.718+4284A>T (n.718+4284A>T)
c.2486A>T (p.Asp829Val)
c.755+4284A>T
c.2111A>T (p.Asp704Val)
n.833+4284A>T
c.4244A>T (p.Asp1415Val)
c.4286A>T (p.Asp1429Val)
c.4265A>T (p.Asp1422Val)
c.4259A>T (p.Asp1420Val)
c.4238A>T (p.Asp1413Val)
c.3149A>T (p.Asp1050Val)
c.4247A>T (p.Asp1416Val)
n.834+4284A>T
11g.70486019T>CCA381683087SHANK2c.2507A>G (p.Asp836Gly)
c.757+4284A>G (n.757+4284A>G)
c.4274A>G (p.Asp1425Gly)
c.1702A>G
c.3137A>G (p.Asp1046Gly)
c.2564A>G (p.Asp855Gly)
c.2510A>G (p.Asp837Gly)
c.718+4284A>G (n.718+4284A>G)
c.2486A>G (p.Asp829Gly)
c.755+4284A>G
c.2111A>G (p.Asp704Gly)
n.833+4284A>G
c.4244A>G (p.Asp1415Gly)
c.4286A>G (p.Asp1429Gly)
c.4265A>G (p.Asp1422Gly)
c.4259A>G (p.Asp1420Gly)
c.4238A>G (p.Asp1413Gly)
c.3149A>G (p.Asp1050Gly)
c.4247A>G (p.Asp1416Gly)
n.834+4284A>G
11g.70486019T>GCA381683088SHANK2c.2507A>C (p.Asp836Ala)
c.757+4284A>C (n.757+4284A>C)
c.4274A>C (p.Asp1425Ala)
c.1702A>C
c.3137A>C (p.Asp1046Ala)
c.2564A>C (p.Asp855Ala)
c.2510A>C (p.Asp837Ala)
c.718+4284A>C (n.718+4284A>C)
c.2486A>C (p.Asp829Ala)
c.755+4284A>C
c.2111A>C (p.Asp704Ala)
n.833+4284A>C
c.4244A>C (p.Asp1415Ala)
c.4286A>C (p.Asp1429Ala)
c.4265A>C (p.Asp1422Ala)
c.4259A>C (p.Asp1420Ala)
c.4238A>C (p.Asp1413Ala)
c.3149A>C (p.Asp1050Ala)
c.4247A>C (p.Asp1416Ala)
n.834+4284A>C
11g.70486020C>ACA6160949SHANK2c.2506G>T (p.Asp836Tyr)
c.757+4283G>T (n.757+4283G>T)
c.4273G>T (p.Asp1425Tyr)
c.1701G>T
c.3136G>T (p.Asp1046Tyr)
c.2563G>T (p.Asp855Tyr)
c.2509G>T (p.Asp837Tyr)
c.718+4283G>T (n.718+4283G>T)
c.2485G>T (p.Asp829Tyr)
c.755+4283G>T
c.2110G>T (p.Asp704Tyr)
n.833+4283G>T
c.4243G>T (p.Asp1415Tyr)
c.4285G>T (p.Asp1429Tyr)
c.4264G>T (p.Asp1422Tyr)
c.4258G>T (p.Asp1420Tyr)
c.4237G>T (p.Asp1413Tyr)
c.3148G>T (p.Asp1050Tyr)
c.4246G>T (p.Asp1416Tyr)
n.834+4283G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70486020C=CA1981074276SHANK2c.2506G= (p.Asp836=)
c.757+4283G= (n.757+4283G=)
c.4273G= (p.Asp1425=)
c.1701G=
c.3136G= (p.Asp1046=)
c.2563G= (p.Asp855=)
c.2509G= (p.Asp837=)
c.718+4283G= (n.718+4283G=)
c.2485G= (p.Asp829=)
c.755+4283G=
c.2110G= (p.Asp704=)
n.833+4283G=
c.4243G= (p.Asp1415=)
c.4285G= (p.Asp1429=)
c.4264G= (p.Asp1422=)
c.4258G= (p.Asp1420=)
c.4237G= (p.Asp1413=)
c.3148G= (p.Asp1050=)
c.4246G= (p.Asp1416=)
n.834+4283G=
11g.70486020C>GCA381683095SHANK2c.2506G>C (p.Asp836His)
c.757+4283G>C (n.757+4283G>C)
c.4273G>C (p.Asp1425His)
c.1701G>C
c.3136G>C (p.Asp1046His)
c.2563G>C (p.Asp855His)
c.2509G>C (p.Asp837His)
c.718+4283G>C (n.718+4283G>C)
c.2485G>C (p.Asp829His)
c.755+4283G>C
c.2110G>C (p.Asp704His)
n.833+4283G>C
c.4243G>C (p.Asp1415His)
c.4285G>C (p.Asp1429His)
c.4264G>C (p.Asp1422His)
c.4258G>C (p.Asp1420His)
c.4237G>C (p.Asp1413His)
c.3148G>C (p.Asp1050His)
c.4246G>C (p.Asp1416His)
n.834+4283G>C
 gnomAD v4
11g.70486020C>TCA6160948SHANK2c.2506G>A (p.Asp836Asn)
c.757+4283G>A (n.757+4283G>A)
c.4273G>A (p.Asp1425Asn)
c.1701G>A
c.3136G>A (p.Asp1046Asn)
c.2563G>A (p.Asp855Asn)
c.2509G>A (p.Asp837Asn)
c.718+4283G>A (n.718+4283G>A)
c.2485G>A (p.Asp829Asn)
c.755+4283G>A
c.2110G>A (p.Asp704Asn)
n.833+4283G>A
c.4243G>A (p.Asp1415Asn)
c.4285G>A (p.Asp1429Asn)
c.4264G>A (p.Asp1422Asn)
c.4258G>A (p.Asp1420Asn)
c.4237G>A (p.Asp1413Asn)
c.3148G>A (p.Asp1050Asn)
c.4246G>A (p.Asp1416Asn)
n.834+4283G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70486021G>ACA6160950SHANK2c.2505C>T (p.Pro835=)
c.757+4282C>T (n.757+4282C>T)
c.4272C>T (p.Pro1424=)
c.1700C>T
c.3135C>T (p.Pro1045=)
c.2562C>T (p.Pro854=)
c.2508C>T (p.Pro836=)
c.718+4282C>T (n.718+4282C>T)
c.2484C>T (p.Pro828=)
c.755+4282C>T
c.2109C>T (p.Pro703=)
n.833+4282C>T
c.4242C>T (p.Pro1414=)
c.4284C>T (p.Pro1428=)
c.4263C>T (p.Pro1421=)
c.4257C>T (p.Pro1419=)
c.4236C>T (p.Pro1412=)
c.3147C>T (p.Pro1049=)
c.4245C>T (p.Pro1415=)
n.834+4282C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70486021G>CCA475471267SHANK2c.2505C>G (p.Pro835=)
c.757+4282C>G (n.757+4282C>G)
c.4272C>G (p.Pro1424=)
c.1700C>G
c.3135C>G (p.Pro1045=)
c.2562C>G (p.Pro854=)
c.2508C>G (p.Pro836=)
c.718+4282C>G (n.718+4282C>G)
c.2484C>G (p.Pro828=)
c.755+4282C>G
c.2109C>G (p.Pro703=)
n.833+4282C>G
c.4242C>G (p.Pro1414=)
c.4284C>G (p.Pro1428=)
c.4263C>G (p.Pro1421=)
c.4257C>G (p.Pro1419=)
c.4236C>G (p.Pro1412=)
c.3147C>G (p.Pro1049=)
c.4245C>G (p.Pro1415=)
n.834+4282C>G
11g.70486021G=CA1981074281SHANK2c.2505C= (p.Pro835=)
c.757+4282C= (n.757+4282C=)
c.4272C= (p.Pro1424=)
c.1700C=
c.3135C= (p.Pro1045=)
c.2562C= (p.Pro854=)
c.2508C= (p.Pro836=)
c.718+4282C= (n.718+4282C=)
c.2484C= (p.Pro828=)
c.755+4282C=
c.2109C= (p.Pro703=)
n.833+4282C=
c.4242C= (p.Pro1414=)
c.4284C= (p.Pro1428=)
c.4263C= (p.Pro1421=)
c.4257C= (p.Pro1419=)
c.4236C= (p.Pro1412=)
c.3147C= (p.Pro1049=)
c.4245C= (p.Pro1415=)
n.834+4282C=
11g.70486021G>TCA475471268SHANK2c.2505C>A (p.Pro835=)
c.757+4282C>A (n.757+4282C>A)
c.4272C>A (p.Pro1424=)
c.1700C>A
c.3135C>A (p.Pro1045=)
c.2562C>A (p.Pro854=)
c.2508C>A (p.Pro836=)
c.718+4282C>A (n.718+4282C>A)
c.2484C>A (p.Pro828=)
c.755+4282C>A
c.2109C>A (p.Pro703=)
n.833+4282C>A
c.4242C>A (p.Pro1414=)
c.4284C>A (p.Pro1428=)
c.4263C>A (p.Pro1421=)
c.4257C>A (p.Pro1419=)
c.4236C>A (p.Pro1412=)
c.3147C>A (p.Pro1049=)
c.4245C>A (p.Pro1415=)
n.834+4282C>A
 dbSNP gnomAD v2 gnomAD v4
11g.70486022G>ACA381683099SHANK2c.2504C>T (p.Pro835Leu)
c.757+4281C>T (n.757+4281C>T)
c.4271C>T (p.Pro1424Leu)
c.1699C>T
c.3134C>T (p.Pro1045Leu)
c.2561C>T (p.Pro854Leu)
c.2507C>T (p.Pro836Leu)
c.718+4281C>T (n.718+4281C>T)
c.2483C>T (p.Pro828Leu)
c.755+4281C>T
c.2108C>T (p.Pro703Leu)
n.833+4281C>T
c.4241C>T (p.Pro1414Leu)
c.4283C>T (p.Pro1428Leu)
c.4262C>T (p.Pro1421Leu)
c.4256C>T (p.Pro1419Leu)
c.4235C>T (p.Pro1412Leu)
c.3146C>T (p.Pro1049Leu)
c.4244C>T (p.Pro1415Leu)
n.834+4281C>T
11g.70486022G>CCA381683101SHANK2c.2504C>G (p.Pro835Arg)
c.757+4281C>G (n.757+4281C>G)
c.4271C>G (p.Pro1424Arg)
c.1699C>G
c.3134C>G (p.Pro1045Arg)
c.2561C>G (p.Pro854Arg)
c.2507C>G (p.Pro836Arg)
c.718+4281C>G (n.718+4281C>G)
c.2483C>G (p.Pro828Arg)
c.755+4281C>G
c.2108C>G (p.Pro703Arg)
n.833+4281C>G
c.4241C>G (p.Pro1414Arg)
c.4283C>G (p.Pro1428Arg)
c.4262C>G (p.Pro1421Arg)
c.4256C>G (p.Pro1419Arg)
c.4235C>G (p.Pro1412Arg)
c.3146C>G (p.Pro1049Arg)
c.4244C>G (p.Pro1415Arg)
n.834+4281C>G
11g.70486022G>TCA381683103SHANK2c.2504C>A (p.Pro835His)
c.757+4281C>A (n.757+4281C>A)
c.4271C>A (p.Pro1424His)
c.1699C>A
c.3134C>A (p.Pro1045His)
c.2561C>A (p.Pro854His)
c.2507C>A (p.Pro836His)
c.718+4281C>A (n.718+4281C>A)
c.2483C>A (p.Pro828His)
c.755+4281C>A
c.2108C>A (p.Pro703His)
n.833+4281C>A
c.4241C>A (p.Pro1414His)
c.4283C>A (p.Pro1428His)
c.4262C>A (p.Pro1421His)
c.4256C>A (p.Pro1419His)
c.4235C>A (p.Pro1412His)
c.3146C>A (p.Pro1049His)
c.4244C>A (p.Pro1415His)
n.834+4281C>A
11g.70486023G>ACA381683110SHANK2c.2503C>T (p.Pro835Ser)
c.757+4280C>T (n.757+4280C>T)
c.4270C>T (p.Pro1424Ser)
c.1698C>T
c.3133C>T (p.Pro1045Ser)
c.2560C>T (p.Pro854Ser)
c.2506C>T (p.Pro836Ser)
c.718+4280C>T (n.718+4280C>T)
c.2482C>T (p.Pro828Ser)
c.755+4280C>T
c.2107C>T (p.Pro703Ser)
n.833+4280C>T
c.4240C>T (p.Pro1414Ser)
c.4282C>T (p.Pro1428Ser)
c.4261C>T (p.Pro1421Ser)
c.4255C>T (p.Pro1419Ser)
c.4234C>T (p.Pro1412Ser)
c.3145C>T (p.Pro1049Ser)
c.4243C>T (p.Pro1415Ser)
n.834+4280C>T
 dbSNP
11g.70486023G>CCA381683108SHANK2c.2503C>G (p.Pro835Ala)
c.757+4280C>G (n.757+4280C>G)
c.4270C>G (p.Pro1424Ala)
c.1698C>G
c.3133C>G (p.Pro1045Ala)
c.2560C>G (p.Pro854Ala)
c.2506C>G (p.Pro836Ala)
c.718+4280C>G (n.718+4280C>G)
c.2482C>G (p.Pro828Ala)
c.755+4280C>G
c.2107C>G (p.Pro703Ala)
n.833+4280C>G
c.4240C>G (p.Pro1414Ala)
c.4282C>G (p.Pro1428Ala)
c.4261C>G (p.Pro1421Ala)
c.4255C>G (p.Pro1419Ala)
c.4234C>G (p.Pro1412Ala)
c.3145C>G (p.Pro1049Ala)
c.4243C>G (p.Pro1415Ala)
n.834+4280C>G
11g.70486023G=CA1981074288SHANK2c.2503C= (p.Pro835=)
c.757+4280C= (n.757+4280C=)
c.4270C= (p.Pro1424=)
c.1698C=
c.3133C= (p.Pro1045=)
c.2560C= (p.Pro854=)
c.2506C= (p.Pro836=)
c.718+4280C= (n.718+4280C=)
c.2482C= (p.Pro828=)
c.755+4280C=
c.2107C= (p.Pro703=)
n.833+4280C=
c.4240C= (p.Pro1414=)
c.4282C= (p.Pro1428=)
c.4261C= (p.Pro1421=)
c.4255C= (p.Pro1419=)
c.4234C= (p.Pro1412=)
c.3145C= (p.Pro1049=)
c.4243C= (p.Pro1415=)
n.834+4280C=
11g.70486023G>TCA381683105SHANK2c.2503C>A (p.Pro835Thr)
c.757+4280C>A (n.757+4280C>A)
c.4270C>A (p.Pro1424Thr)
c.1698C>A
c.3133C>A (p.Pro1045Thr)
c.2560C>A (p.Pro854Thr)
c.2506C>A (p.Pro836Thr)
c.718+4280C>A (n.718+4280C>A)
c.2482C>A (p.Pro828Thr)
c.755+4280C>A
c.2107C>A (p.Pro703Thr)
n.833+4280C>A
c.4240C>A (p.Pro1414Thr)
c.4282C>A (p.Pro1428Thr)
c.4261C>A (p.Pro1421Thr)
c.4255C>A (p.Pro1419Thr)
c.4234C>A (p.Pro1412Thr)
c.3145C>A (p.Pro1049Thr)
c.4243C>A (p.Pro1415Thr)
n.834+4280C>A
11g.70486024G>ACA475471271SHANK2c.2502C>T (p.Ile834=)
c.757+4279C>T (n.757+4279C>T)
c.4269C>T (p.Ile1423=)
c.1697C>T
c.3132C>T (p.Ile1044=)
c.2559C>T (p.Ile853=)
c.2505C>T (p.Ile835=)
c.718+4279C>T (n.718+4279C>T)
c.2481C>T (p.Ile827=)
c.755+4279C>T
c.2106C>T (p.Ile702=)
n.833+4279C>T
c.4239C>T (p.Ile1413=)
c.4281C>T (p.Ile1427=)
c.4260C>T (p.Ile1420=)
c.4254C>T (p.Ile1418=)
c.4233C>T (p.Ile1411=)
c.3144C>T (p.Ile1048=)
c.4242C>T (p.Ile1414=)
n.834+4279C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
11g.70486024G>CCA381683114SHANK2c.2502C>G (p.Ile834Met)
c.757+4279C>G (n.757+4279C>G)
c.4269C>G (p.Ile1423Met)
c.1697C>G
c.3132C>G (p.Ile1044Met)
c.2559C>G (p.Ile853Met)
c.2505C>G (p.Ile835Met)
c.718+4279C>G (n.718+4279C>G)
c.2481C>G (p.Ile827Met)
c.755+4279C>G
c.2106C>G (p.Ile702Met)
n.833+4279C>G
c.4239C>G (p.Ile1413Met)
c.4281C>G (p.Ile1427Met)
c.4260C>G (p.Ile1420Met)
c.4254C>G (p.Ile1418Met)
c.4233C>G (p.Ile1411Met)
c.3144C>G (p.Ile1048Met)
c.4242C>G (p.Ile1414Met)
n.834+4279C>G
 gnomAD v4
11g.70486024G=CA1981074294SHANK2c.2502C= (p.Ile834=)
c.757+4279C= (n.757+4279C=)
c.4269C= (p.Ile1423=)
c.1697C=
c.3132C= (p.Ile1044=)
c.2559C= (p.Ile853=)
c.2505C= (p.Ile835=)
c.718+4279C= (n.718+4279C=)
c.2481C= (p.Ile827=)
c.755+4279C=
c.2106C= (p.Ile702=)
n.833+4279C=
c.4239C= (p.Ile1413=)
c.4281C= (p.Ile1427=)
c.4260C= (p.Ile1420=)
c.4254C= (p.Ile1418=)
c.4233C= (p.Ile1411=)
c.3144C= (p.Ile1048=)
c.4242C= (p.Ile1414=)
n.834+4279C=
11g.70486024G>TCA475471272SHANK2c.2502C>A (p.Ile834=)
c.757+4279C>A (n.757+4279C>A)
c.4269C>A (p.Ile1423=)
c.1697C>A
c.3132C>A (p.Ile1044=)
c.2559C>A (p.Ile853=)
c.2505C>A (p.Ile835=)
c.718+4279C>A (n.718+4279C>A)
c.2481C>A (p.Ile827=)
c.755+4279C>A
c.2106C>A (p.Ile702=)
n.833+4279C>A
c.4239C>A (p.Ile1413=)
c.4281C>A (p.Ile1427=)
c.4260C>A (p.Ile1420=)
c.4254C>A (p.Ile1418=)
c.4233C>A (p.Ile1411=)
c.3144C>A (p.Ile1048=)
c.4242C>A (p.Ile1414=)
n.834+4279C>A
11g.70486025A>CCA381683118SHANK2c.2501T>G (p.Ile834Ser)
c.757+4278T>G (n.757+4278T>G)
c.4268T>G (p.Ile1423Ser)
c.1696T>G
c.3131T>G (p.Ile1044Ser)
c.2558T>G (p.Ile853Ser)
c.2504T>G (p.Ile835Ser)
c.718+4278T>G (n.718+4278T>G)
c.2480T>G (p.Ile827Ser)
c.755+4278T>G
c.2105T>G (p.Ile702Ser)
n.833+4278T>G
c.4238T>G (p.Ile1413Ser)
c.4280T>G (p.Ile1427Ser)
c.4259T>G (p.Ile1420Ser)
c.4253T>G (p.Ile1418Ser)
c.4232T>G (p.Ile1411Ser)
c.3143T>G (p.Ile1048Ser)
c.4241T>G (p.Ile1414Ser)
n.834+4278T>G
11g.70486025A>GCA381683121SHANK2c.2501T>C (p.Ile834Thr)
c.757+4278T>C (n.757+4278T>C)
c.4268T>C (p.Ile1423Thr)
c.1696T>C
c.3131T>C (p.Ile1044Thr)
c.2558T>C (p.Ile853Thr)
c.2504T>C (p.Ile835Thr)
c.718+4278T>C (n.718+4278T>C)
c.2480T>C (p.Ile827Thr)
c.755+4278T>C
c.2105T>C (p.Ile702Thr)
n.833+4278T>C
c.4238T>C (p.Ile1413Thr)
c.4280T>C (p.Ile1427Thr)
c.4259T>C (p.Ile1420Thr)
c.4253T>C (p.Ile1418Thr)
c.4232T>C (p.Ile1411Thr)
c.3143T>C (p.Ile1048Thr)
c.4241T>C (p.Ile1414Thr)
n.834+4278T>C
11g.70486025A>TCA381683124SHANK2c.2501T>A (p.Ile834Asn)
c.757+4278T>A (n.757+4278T>A)
c.4268T>A (p.Ile1423Asn)
c.1696T>A
c.3131T>A (p.Ile1044Asn)
c.2558T>A (p.Ile853Asn)
c.2504T>A (p.Ile835Asn)
c.718+4278T>A (n.718+4278T>A)
c.2480T>A (p.Ile827Asn)
c.755+4278T>A
c.2105T>A (p.Ile702Asn)
n.833+4278T>A
c.4238T>A (p.Ile1413Asn)
c.4280T>A (p.Ile1427Asn)
c.4259T>A (p.Ile1420Asn)
c.4253T>A (p.Ile1418Asn)
c.4232T>A (p.Ile1411Asn)
c.3143T>A (p.Ile1048Asn)
c.4241T>A (p.Ile1414Asn)
n.834+4278T>A
11g.70486026T>ACA381683127SHANK2c.2500A>T (p.Ile834Phe)
c.757+4277A>T (n.757+4277A>T)
c.4267A>T (p.Ile1423Phe)
c.1695A>T
c.3130A>T (p.Ile1044Phe)
c.2557A>T (p.Ile853Phe)
c.2503A>T (p.Ile835Phe)
c.718+4277A>T (n.718+4277A>T)
c.2479A>T (p.Ile827Phe)
c.755+4277A>T
c.2104A>T (p.Ile702Phe)
n.833+4277A>T
c.4237A>T (p.Ile1413Phe)
c.4279A>T (p.Ile1427Phe)
c.4258A>T (p.Ile1420Phe)
c.4252A>T (p.Ile1418Phe)
c.4231A>T (p.Ile1411Phe)
c.3142A>T (p.Ile1048Phe)
c.4240A>T (p.Ile1414Phe)
n.834+4277A>T
11g.70486026T>CCA381683129SHANK2c.2500A>G (p.Ile834Val)
c.757+4277A>G (n.757+4277A>G)
c.4267A>G (p.Ile1423Val)
c.1695A>G
c.3130A>G (p.Ile1044Val)
c.2557A>G (p.Ile853Val)
c.2503A>G (p.Ile835Val)
c.718+4277A>G (n.718+4277A>G)
c.2479A>G (p.Ile827Val)
c.755+4277A>G
c.2104A>G (p.Ile702Val)
n.833+4277A>G
c.4237A>G (p.Ile1413Val)
c.4279A>G (p.Ile1427Val)
c.4258A>G (p.Ile1420Val)
c.4252A>G (p.Ile1418Val)
c.4231A>G (p.Ile1411Val)
c.3142A>G (p.Ile1048Val)
c.4240A>G (p.Ile1414Val)
n.834+4277A>G
11g.70486026T>GCA381683133SHANK2c.2500A>C (p.Ile834Leu)
c.757+4277A>C (n.757+4277A>C)
c.4267A>C (p.Ile1423Leu)
c.1695A>C
c.3130A>C (p.Ile1044Leu)
c.2557A>C (p.Ile853Leu)
c.2503A>C (p.Ile835Leu)
c.718+4277A>C (n.718+4277A>C)
c.2479A>C (p.Ile827Leu)
c.755+4277A>C
c.2104A>C (p.Ile702Leu)
n.833+4277A>C
c.4237A>C (p.Ile1413Leu)
c.4279A>C (p.Ile1427Leu)
c.4258A>C (p.Ile1420Leu)
c.4252A>C (p.Ile1418Leu)
c.4231A>C (p.Ile1411Leu)
c.3142A>C (p.Ile1048Leu)
c.4240A>C (p.Ile1414Leu)
n.834+4277A>C
11g.70486027A>CCA381683136SHANK2c.2499T>G (p.Asp833Glu)
c.757+4276T>G (n.757+4276T>G)
c.4266T>G (p.Asp1422Glu)
c.1694T>G
c.3129T>G (p.Asp1043Glu)
c.2556T>G (p.Asp852Glu)
c.2502T>G (p.Asp834Glu)
c.718+4276T>G (n.718+4276T>G)
c.2478T>G (p.Asp826Glu)
c.755+4276T>G
c.2103T>G (p.Asp701Glu)
n.833+4276T>G
c.4236T>G (p.Asp1412Glu)
c.4278T>G (p.Asp1426Glu)
c.4257T>G (p.Asp1419Glu)
c.4251T>G (p.Asp1417Glu)
c.4230T>G (p.Asp1410Glu)
c.3141T>G (p.Asp1047Glu)
c.4239T>G (p.Asp1413Glu)
n.834+4276T>G
11g.70486027A>GCA475471273SHANK2c.2499T>C (p.Asp833=)
c.757+4276T>C (n.757+4276T>C)
c.4266T>C (p.Asp1422=)
c.1694T>C
c.3129T>C (p.Asp1043=)
c.2556T>C (p.Asp852=)
c.2502T>C (p.Asp834=)
c.718+4276T>C (n.718+4276T>C)
c.2478T>C (p.Asp826=)
c.755+4276T>C
c.2103T>C (p.Asp701=)
n.833+4276T>C
c.4236T>C (p.Asp1412=)
c.4278T>C (p.Asp1426=)
c.4257T>C (p.Asp1419=)
c.4251T>C (p.Asp1417=)
c.4230T>C (p.Asp1410=)
c.3141T>C (p.Asp1047=)
c.4239T>C (p.Asp1413=)
n.834+4276T>C
11g.70486027A>TCA381683138SHANK2c.2499T>A (p.Asp833Glu)
c.757+4276T>A (n.757+4276T>A)
c.4266T>A (p.Asp1422Glu)
c.1694T>A
c.3129T>A (p.Asp1043Glu)
c.2556T>A (p.Asp852Glu)
c.2502T>A (p.Asp834Glu)
c.718+4276T>A (n.718+4276T>A)
c.2478T>A (p.Asp826Glu)
c.755+4276T>A
c.2103T>A (p.Asp701Glu)
n.833+4276T>A
c.4236T>A (p.Asp1412Glu)
c.4278T>A (p.Asp1426Glu)
c.4257T>A (p.Asp1419Glu)
c.4251T>A (p.Asp1417Glu)
c.4230T>A (p.Asp1410Glu)
c.3141T>A (p.Asp1047Glu)
c.4239T>A (p.Asp1413Glu)
n.834+4276T>A
11g.70486028T>ACA381683141SHANK2c.2498A>T (p.Asp833Val)
c.757+4275A>T (n.757+4275A>T)
c.4265A>T (p.Asp1422Val)
c.1693A>T
c.3128A>T (p.Asp1043Val)
c.2555A>T (p.Asp852Val)
c.2501A>T (p.Asp834Val)
c.718+4275A>T (n.718+4275A>T)
c.2477A>T (p.Asp826Val)
c.755+4275A>T
c.2102A>T (p.Asp701Val)
n.833+4275A>T
c.4235A>T (p.Asp1412Val)
c.4277A>T (p.Asp1426Val)
c.4256A>T (p.Asp1419Val)
c.4250A>T (p.Asp1417Val)
c.4229A>T (p.Asp1410Val)
c.3140A>T (p.Asp1047Val)
c.4238A>T (p.Asp1413Val)
n.834+4275A>T
11g.70486028T>CCA381683143SHANK2c.2498A>G (p.Asp833Gly)
c.757+4275A>G (n.757+4275A>G)
c.4265A>G (p.Asp1422Gly)
c.1693A>G
c.3128A>G (p.Asp1043Gly)
c.2555A>G (p.Asp852Gly)
c.2501A>G (p.Asp834Gly)
c.718+4275A>G (n.718+4275A>G)
c.2477A>G (p.Asp826Gly)
c.755+4275A>G
c.2102A>G (p.Asp701Gly)
n.833+4275A>G
c.4235A>G (p.Asp1412Gly)
c.4277A>G (p.Asp1426Gly)
c.4256A>G (p.Asp1419Gly)
c.4250A>G (p.Asp1417Gly)
c.4229A>G (p.Asp1410Gly)
c.3140A>G (p.Asp1047Gly)
c.4238A>G (p.Asp1413Gly)
n.834+4275A>G
11g.70486028T>GCA381683145SHANK2c.2498A>C (p.Asp833Ala)
c.757+4275A>C (n.757+4275A>C)
c.4265A>C (p.Asp1422Ala)
c.1693A>C
c.3128A>C (p.Asp1043Ala)
c.2555A>C (p.Asp852Ala)
c.2501A>C (p.Asp834Ala)
c.718+4275A>C (n.718+4275A>C)
c.2477A>C (p.Asp826Ala)
c.755+4275A>C
c.2102A>C (p.Asp701Ala)
n.833+4275A>C
c.4235A>C (p.Asp1412Ala)
c.4277A>C (p.Asp1426Ala)
c.4256A>C (p.Asp1419Ala)
c.4250A>C (p.Asp1417Ala)
c.4229A>C (p.Asp1410Ala)
c.3140A>C (p.Asp1047Ala)
c.4238A>C (p.Asp1413Ala)
n.834+4275A>C
11g.70486029C>ACA381683153SHANK2c.2497G>T (p.Asp833Tyr)
c.757+4274G>T (n.757+4274G>T)
c.4264G>T (p.Asp1422Tyr)
c.1692G>T
c.3127G>T (p.Asp1043Tyr)
c.2554G>T (p.Asp852Tyr)
c.2500G>T (p.Asp834Tyr)
c.718+4274G>T (n.718+4274G>T)
c.2476G>T (p.Asp826Tyr)
c.755+4274G>T
c.2101G>T (p.Asp701Tyr)
n.833+4274G>T
c.4234G>T (p.Asp1412Tyr)
c.4276G>T (p.Asp1426Tyr)
c.4255G>T (p.Asp1419Tyr)
c.4249G>T (p.Asp1417Tyr)
c.4228G>T (p.Asp1410Tyr)
c.3139G>T (p.Asp1047Tyr)
c.4237G>T (p.Asp1413Tyr)
n.834+4274G>T
11g.70486029C>GCA381683150SHANK2c.2497G>C (p.Asp833His)
c.757+4274G>C (n.757+4274G>C)
c.4264G>C (p.Asp1422His)
c.1692G>C
c.3127G>C (p.Asp1043His)
c.2554G>C (p.Asp852His)
c.2500G>C (p.Asp834His)
c.718+4274G>C (n.718+4274G>C)
c.2476G>C (p.Asp826His)
c.755+4274G>C
c.2101G>C (p.Asp701His)
n.833+4274G>C
c.4234G>C (p.Asp1412His)
c.4276G>C (p.Asp1426His)
c.4255G>C (p.Asp1419His)
c.4249G>C (p.Asp1417His)
c.4228G>C (p.Asp1410His)
c.3139G>C (p.Asp1047His)
c.4237G>C (p.Asp1413His)
n.834+4274G>C
11g.70486029C>TCA381683148SHANK2c.2497G>A (p.Asp833Asn)
c.757+4274G>A (n.757+4274G>A)
c.4264G>A (p.Asp1422Asn)
c.1692G>A
c.3127G>A (p.Asp1043Asn)
c.2554G>A (p.Asp852Asn)
c.2500G>A (p.Asp834Asn)
c.718+4274G>A (n.718+4274G>A)
c.2476G>A (p.Asp826Asn)
c.755+4274G>A
c.2101G>A (p.Asp701Asn)
n.833+4274G>A
c.4234G>A (p.Asp1412Asn)
c.4276G>A (p.Asp1426Asn)
c.4255G>A (p.Asp1419Asn)
c.4249G>A (p.Asp1417Asn)
c.4228G>A (p.Asp1410Asn)
c.3139G>A (p.Asp1047Asn)
c.4237G>A (p.Asp1413Asn)
n.834+4274G>A
11g.70486030A=CA1981074298SHANK2c.2496T= (p.Phe832=)
c.757+4273T= (n.757+4273T=)
c.4263T= (p.Phe1421=)
c.1691T=
c.3126T= (p.Phe1042=)
c.2553T= (p.Phe851=)
c.2499T= (p.Phe833=)
c.718+4273T= (n.718+4273T=)
c.2475T= (p.Phe825=)
c.755+4273T=
c.2100T= (p.Phe700=)
n.833+4273T=
c.4233T= (p.Phe1411=)
c.4275T= (p.Phe1425=)
c.4254T= (p.Phe1418=)
c.4248T= (p.Phe1416=)
c.4227T= (p.Phe1409=)
c.3138T= (p.Phe1046=)
c.4236T= (p.Phe1412=)
n.834+4273T=
11g.70486030A>CCA381683157SHANK2c.2496T>G (p.Phe832Leu)
c.757+4273T>G (n.757+4273T>G)
c.4263T>G (p.Phe1421Leu)
c.1691T>G
c.3126T>G (p.Phe1042Leu)
c.2553T>G (p.Phe851Leu)
c.2499T>G (p.Phe833Leu)
c.718+4273T>G (n.718+4273T>G)
c.2475T>G (p.Phe825Leu)
c.755+4273T>G
c.2100T>G (p.Phe700Leu)
n.833+4273T>G
c.4233T>G (p.Phe1411Leu)
c.4275T>G (p.Phe1425Leu)
c.4254T>G (p.Phe1418Leu)
c.4248T>G (p.Phe1416Leu)
c.4227T>G (p.Phe1409Leu)
c.3138T>G (p.Phe1046Leu)
c.4236T>G (p.Phe1412Leu)
n.834+4273T>G
 dbSNP gnomAD v2 gnomAD v4
11g.70486030A>GCA475471277SHANK2c.2496T>C (p.Phe832=)
c.757+4273T>C (n.757+4273T>C)
c.4263T>C (p.Phe1421=)
c.1691T>C
c.3126T>C (p.Phe1042=)
c.2553T>C (p.Phe851=)
c.2499T>C (p.Phe833=)
c.718+4273T>C (n.718+4273T>C)
c.2475T>C (p.Phe825=)
c.755+4273T>C
c.2100T>C (p.Phe700=)
n.833+4273T>C
c.4233T>C (p.Phe1411=)
c.4275T>C (p.Phe1425=)
c.4254T>C (p.Phe1418=)
c.4248T>C (p.Phe1416=)
c.4227T>C (p.Phe1409=)
c.3138T>C (p.Phe1046=)
c.4236T>C (p.Phe1412=)
n.834+4273T>C
11g.70486030A>TCA381683164SHANK2c.2496T>A (p.Phe832Leu)
c.757+4273T>A (n.757+4273T>A)
c.4263T>A (p.Phe1421Leu)
c.1691T>A
c.3126T>A (p.Phe1042Leu)
c.2553T>A (p.Phe851Leu)
c.2499T>A (p.Phe833Leu)
c.718+4273T>A (n.718+4273T>A)
c.2475T>A (p.Phe825Leu)
c.755+4273T>A
c.2100T>A (p.Phe700Leu)
n.833+4273T>A
c.4233T>A (p.Phe1411Leu)
c.4275T>A (p.Phe1425Leu)
c.4254T>A (p.Phe1418Leu)
c.4248T>A (p.Phe1416Leu)
c.4227T>A (p.Phe1409Leu)
c.3138T>A (p.Phe1046Leu)
c.4236T>A (p.Phe1412Leu)
n.834+4273T>A
11g.70486031A>CCA381683170SHANK2c.2495T>G (p.Phe832Cys)
c.757+4272T>G (n.757+4272T>G)
c.4262T>G (p.Phe1421Cys)
c.1690T>G
c.3125T>G (p.Phe1042Cys)
c.2552T>G (p.Phe851Cys)
c.2498T>G (p.Phe833Cys)
c.718+4272T>G (n.718+4272T>G)
c.2474T>G (p.Phe825Cys)
c.755+4272T>G
c.2099T>G (p.Phe700Cys)
n.833+4272T>G
c.4232T>G (p.Phe1411Cys)
c.4274T>G (p.Phe1425Cys)
c.4253T>G (p.Phe1418Cys)
c.4247T>G (p.Phe1416Cys)
c.4226T>G (p.Phe1409Cys)
c.3137T>G (p.Phe1046Cys)
c.4235T>G (p.Phe1412Cys)
n.834+4272T>G
11g.70486031A>GCA381683171SHANK2c.2495T>C (p.Phe832Ser)
c.757+4272T>C (n.757+4272T>C)
c.4262T>C (p.Phe1421Ser)
c.1690T>C
c.3125T>C (p.Phe1042Ser)
c.2552T>C (p.Phe851Ser)
c.2498T>C (p.Phe833Ser)
c.718+4272T>C (n.718+4272T>C)
c.2474T>C (p.Phe825Ser)
c.755+4272T>C
c.2099T>C (p.Phe700Ser)
n.833+4272T>C
c.4232T>C (p.Phe1411Ser)
c.4274T>C (p.Phe1425Ser)
c.4253T>C (p.Phe1418Ser)
c.4247T>C (p.Phe1416Ser)
c.4226T>C (p.Phe1409Ser)
c.3137T>C (p.Phe1046Ser)
c.4235T>C (p.Phe1412Ser)
n.834+4272T>C
11g.70486031A>TCA381683176SHANK2c.2495T>A (p.Phe832Tyr)
c.757+4272T>A (n.757+4272T>A)
c.4262T>A (p.Phe1421Tyr)
c.1690T>A
c.3125T>A (p.Phe1042Tyr)
c.2552T>A (p.Phe851Tyr)
c.2498T>A (p.Phe833Tyr)
c.718+4272T>A (n.718+4272T>A)
c.2474T>A (p.Phe825Tyr)
c.755+4272T>A
c.2099T>A (p.Phe700Tyr)
n.833+4272T>A
c.4232T>A (p.Phe1411Tyr)
c.4274T>A (p.Phe1425Tyr)
c.4253T>A (p.Phe1418Tyr)
c.4247T>A (p.Phe1416Tyr)
c.4226T>A (p.Phe1409Tyr)
c.3137T>A (p.Phe1046Tyr)
c.4235T>A (p.Phe1412Tyr)
n.834+4272T>A
11g.70486032A>CCA381683178SHANK2c.2494T>G (p.Phe832Val)
c.757+4271T>G (n.757+4271T>G)
c.4261T>G (p.Phe1421Val)
c.1689T>G
c.3124T>G (p.Phe1042Val)
c.2551T>G (p.Phe851Val)
c.2497T>G (p.Phe833Val)
c.718+4271T>G (n.718+4271T>G)
c.2473T>G (p.Phe825Val)
c.755+4271T>G
c.2098T>G (p.Phe700Val)
n.833+4271T>G
c.4231T>G (p.Phe1411Val)
c.4273T>G (p.Phe1425Val)
c.4252T>G (p.Phe1418Val)
c.4246T>G (p.Phe1416Val)
c.4225T>G (p.Phe1409Val)
c.3136T>G (p.Phe1046Val)
c.4234T>G (p.Phe1412Val)
n.834+4271T>G
11g.70486032A>GCA381683181SHANK2c.2494T>C (p.Phe832Leu)
c.757+4271T>C (n.757+4271T>C)
c.4261T>C (p.Phe1421Leu)
c.1689T>C
c.3124T>C (p.Phe1042Leu)
c.2551T>C (p.Phe851Leu)
c.2497T>C (p.Phe833Leu)
c.718+4271T>C (n.718+4271T>C)
c.2473T>C (p.Phe825Leu)
c.755+4271T>C
c.2098T>C (p.Phe700Leu)
n.833+4271T>C
c.4231T>C (p.Phe1411Leu)
c.4273T>C (p.Phe1425Leu)
c.4252T>C (p.Phe1418Leu)
c.4246T>C (p.Phe1416Leu)
c.4225T>C (p.Phe1409Leu)
c.3136T>C (p.Phe1046Leu)
c.4234T>C (p.Phe1412Leu)
n.834+4271T>C
11g.70486032A>TCA381683183SHANK2c.2494T>A (p.Phe832Ile)
c.757+4271T>A (n.757+4271T>A)
c.4261T>A (p.Phe1421Ile)
c.1689T>A
c.3124T>A (p.Phe1042Ile)
c.2551T>A (p.Phe851Ile)
c.2497T>A (p.Phe833Ile)
c.718+4271T>A (n.718+4271T>A)
c.2473T>A (p.Phe825Ile)
c.755+4271T>A
c.2098T>A (p.Phe700Ile)
n.833+4271T>A
c.4231T>A (p.Phe1411Ile)
c.4273T>A (p.Phe1425Ile)
c.4252T>A (p.Phe1418Ile)
c.4246T>A (p.Phe1416Ile)
c.4225T>A (p.Phe1409Ile)
c.3136T>A (p.Phe1046Ile)
c.4234T>A (p.Phe1412Ile)
n.834+4271T>A
11g.70486033A>CCA381683186SHANK2c.2493T>G (p.Ser831Arg)
c.757+4270T>G (n.757+4270T>G)
c.4260T>G (p.Ser1420Arg)
c.1688T>G
c.3123T>G (p.Ser1041Arg)
c.2550T>G (p.Ser850Arg)
c.2496T>G (p.Ser832Arg)
c.718+4270T>G (n.718+4270T>G)
c.2472T>G (p.Ser824Arg)
c.755+4270T>G
c.2097T>G (p.Ser699Arg)
n.833+4270T>G
c.4230T>G (p.Ser1410Arg)
c.4272T>G (p.Ser1424Arg)
c.4251T>G (p.Ser1417Arg)
c.4245T>G (p.Ser1415Arg)
c.4224T>G (p.Ser1408Arg)
c.3135T>G (p.Ser1045Arg)
c.4233T>G (p.Ser1411Arg)
n.834+4270T>G
11g.70486033A>GCA475471278SHANK2c.2493T>C (p.Ser831=)
c.757+4270T>C (n.757+4270T>C)
c.4260T>C (p.Ser1420=)
c.1688T>C
c.3123T>C (p.Ser1041=)
c.2550T>C (p.Ser850=)
c.2496T>C (p.Ser832=)
c.718+4270T>C (n.718+4270T>C)
c.2472T>C (p.Ser824=)
c.755+4270T>C
c.2097T>C (p.Ser699=)
n.833+4270T>C
c.4230T>C (p.Ser1410=)
c.4272T>C (p.Ser1424=)
c.4251T>C (p.Ser1417=)
c.4245T>C (p.Ser1415=)
c.4224T>C (p.Ser1408=)
c.3135T>C (p.Ser1045=)
c.4233T>C (p.Ser1411=)
n.834+4270T>C
11g.70486033A>TCA381683189SHANK2c.2493T>A (p.Ser831Arg)
c.757+4270T>A (n.757+4270T>A)
c.4260T>A (p.Ser1420Arg)
c.1688T>A
c.3123T>A (p.Ser1041Arg)
c.2550T>A (p.Ser850Arg)
c.2496T>A (p.Ser832Arg)
c.718+4270T>A (n.718+4270T>A)
c.2472T>A (p.Ser824Arg)
c.755+4270T>A
c.2097T>A (p.Ser699Arg)
n.833+4270T>A
c.4230T>A (p.Ser1410Arg)
c.4272T>A (p.Ser1424Arg)
c.4251T>A (p.Ser1417Arg)
c.4245T>A (p.Ser1415Arg)
c.4224T>A (p.Ser1408Arg)
c.3135T>A (p.Ser1045Arg)
c.4233T>A (p.Ser1411Arg)
n.834+4270T>A
11g.70486034C>ACA381683193SHANK2c.2492G>T (p.Ser831Ile)
c.757+4269G>T (n.757+4269G>T)
c.4259G>T (p.Ser1420Ile)
c.1687G>T
c.3122G>T (p.Ser1041Ile)
c.2549G>T (p.Ser850Ile)
c.2495G>T (p.Ser832Ile)
c.718+4269G>T (n.718+4269G>T)
c.2471G>T (p.Ser824Ile)
c.755+4269G>T
c.2096G>T (p.Ser699Ile)
n.833+4269G>T
c.4229G>T (p.Ser1410Ile)
c.4271G>T (p.Ser1424Ile)
c.4250G>T (p.Ser1417Ile)
c.4244G>T (p.Ser1415Ile)
c.4223G>T (p.Ser1408Ile)
c.3134G>T (p.Ser1045Ile)
c.4232G>T (p.Ser1411Ile)
n.834+4269G>T
11g.70486034C>GCA381683194SHANK2c.2492G>C (p.Ser831Thr)
c.757+4269G>C (n.757+4269G>C)
c.4259G>C (p.Ser1420Thr)
c.1687G>C
c.3122G>C (p.Ser1041Thr)
c.2549G>C (p.Ser850Thr)
c.2495G>C (p.Ser832Thr)
c.718+4269G>C (n.718+4269G>C)
c.2471G>C (p.Ser824Thr)
c.755+4269G>C
c.2096G>C (p.Ser699Thr)
n.833+4269G>C
c.4229G>C (p.Ser1410Thr)
c.4271G>C (p.Ser1424Thr)
c.4250G>C (p.Ser1417Thr)
c.4244G>C (p.Ser1415Thr)
c.4223G>C (p.Ser1408Thr)
c.3134G>C (p.Ser1045Thr)
c.4232G>C (p.Ser1411Thr)
n.834+4269G>C
 gnomAD v4
11g.70486034C>TCA381683198SHANK2c.2492G>A (p.Ser831Asn)
c.757+4269G>A (n.757+4269G>A)
c.4259G>A (p.Ser1420Asn)
c.1687G>A
c.3122G>A (p.Ser1041Asn)
c.2549G>A (p.Ser850Asn)
c.2495G>A (p.Ser832Asn)
c.718+4269G>A (n.718+4269G>A)
c.2471G>A (p.Ser824Asn)
c.755+4269G>A
c.2096G>A (p.Ser699Asn)
n.833+4269G>A
c.4229G>A (p.Ser1410Asn)
c.4271G>A (p.Ser1424Asn)
c.4250G>A (p.Ser1417Asn)
c.4244G>A (p.Ser1415Asn)
c.4223G>A (p.Ser1408Asn)
c.3134G>A (p.Ser1045Asn)
c.4232G>A (p.Ser1411Asn)
n.834+4269G>A
 COSMIC COSMIC COSMIC
11g.70486035T>ACA381683206SHANK2c.2491A>T (p.Ser831Cys)
c.757+4268A>T (n.757+4268A>T)
c.4258A>T (p.Ser1420Cys)
c.1686A>T
c.3121A>T (p.Ser1041Cys)
c.2548A>T (p.Ser850Cys)
c.2494A>T (p.Ser832Cys)
c.718+4268A>T (n.718+4268A>T)
c.2470A>T (p.Ser824Cys)
c.755+4268A>T
c.2095A>T (p.Ser699Cys)
n.833+4268A>T
c.4228A>T (p.Ser1410Cys)
c.4270A>T (p.Ser1424Cys)
c.4249A>T (p.Ser1417Cys)
c.4243A>T (p.Ser1415Cys)
c.4222A>T (p.Ser1408Cys)
c.3133A>T (p.Ser1045Cys)
c.4231A>T (p.Ser1411Cys)
n.834+4268A>T
11g.70486035T>CCA381683203SHANK2c.2491A>G (p.Ser831Gly)
c.757+4268A>G (n.757+4268A>G)
c.4258A>G (p.Ser1420Gly)
c.1686A>G
c.3121A>G (p.Ser1041Gly)
c.2548A>G (p.Ser850Gly)
c.2494A>G (p.Ser832Gly)
c.718+4268A>G (n.718+4268A>G)
c.2470A>G (p.Ser824Gly)
c.755+4268A>G
c.2095A>G (p.Ser699Gly)
n.833+4268A>G
c.4228A>G (p.Ser1410Gly)
c.4270A>G (p.Ser1424Gly)
c.4249A>G (p.Ser1417Gly)
c.4243A>G (p.Ser1415Gly)
c.4222A>G (p.Ser1408Gly)
c.3133A>G (p.Ser1045Gly)
c.4231A>G (p.Ser1411Gly)
n.834+4268A>G
11g.70486035T>GCA381683200SHANK2c.2491A>C (p.Ser831Arg)
c.757+4268A>C (n.757+4268A>C)
c.4258A>C (p.Ser1420Arg)
c.1686A>C
c.3121A>C (p.Ser1041Arg)
c.2548A>C (p.Ser850Arg)
c.2494A>C (p.Ser832Arg)
c.718+4268A>C (n.718+4268A>C)
c.2470A>C (p.Ser824Arg)
c.755+4268A>C
c.2095A>C (p.Ser699Arg)
n.833+4268A>C
c.4228A>C (p.Ser1410Arg)
c.4270A>C (p.Ser1424Arg)
c.4249A>C (p.Ser1417Arg)
c.4243A>C (p.Ser1415Arg)
c.4222A>C (p.Ser1408Arg)
c.3133A>C (p.Ser1045Arg)
c.4231A>C (p.Ser1411Arg)
n.834+4268A>C
11g.70486036A=CA1981074302SHANK2c.2490T= (p.Asn830=)
c.757+4267T= (n.757+4267T=)
c.4257T= (p.Asn1419=)
c.1685T=
c.3120T= (p.Asn1040=)
c.2547T= (p.Asn849=)
c.2493T= (p.Asn831=)
c.718+4267T= (n.718+4267T=)
c.2469T= (p.Asn823=)
c.755+4267T=
c.2094T= (p.Asn698=)
n.833+4267T=
c.4227T= (p.Asn1409=)
c.4269T= (p.Asn1423=)
c.4248T= (p.Asn1416=)
c.4242T= (p.Asn1414=)
c.4221T= (p.Asn1407=)
c.3132T= (p.Asn1044=)
c.4230T= (p.Asn1410=)
n.834+4267T=
11g.70486036A>CCA381683211SHANK2c.2490T>G (p.Asn830Lys)
c.757+4267T>G (n.757+4267T>G)
c.4257T>G (p.Asn1419Lys)
c.1685T>G
c.3120T>G (p.Asn1040Lys)
c.2547T>G (p.Asn849Lys)
c.2493T>G (p.Asn831Lys)
c.718+4267T>G (n.718+4267T>G)
c.2469T>G (p.Asn823Lys)
c.755+4267T>G
c.2094T>G (p.Asn698Lys)
n.833+4267T>G
c.4227T>G (p.Asn1409Lys)
c.4269T>G (p.Asn1423Lys)
c.4248T>G (p.Asn1416Lys)
c.4242T>G (p.Asn1414Lys)
c.4221T>G (p.Asn1407Lys)
c.3132T>G (p.Asn1044Lys)
c.4230T>G (p.Asn1410Lys)
n.834+4267T>G
11g.70486036A>GCA475471282SHANK2c.2490T>C (p.Asn830=)
c.757+4267T>C (n.757+4267T>C)
c.4257T>C (p.Asn1419=)
c.1685T>C
c.3120T>C (p.Asn1040=)
c.2547T>C (p.Asn849=)
c.2493T>C (p.Asn831=)
c.718+4267T>C (n.718+4267T>C)
c.2469T>C (p.Asn823=)
c.755+4267T>C
c.2094T>C (p.Asn698=)
n.833+4267T>C
c.4227T>C (p.Asn1409=)
c.4269T>C (p.Asn1423=)
c.4248T>C (p.Asn1416=)
c.4242T>C (p.Asn1414=)
c.4221T>C (p.Asn1407=)
c.3132T>C (p.Asn1044=)
c.4230T>C (p.Asn1410=)
n.834+4267T>C
 dbSNP gnomAD v3 gnomAD v4
11g.70486036A>TCA381683209SHANK2c.2490T>A (p.Asn830Lys)
c.757+4267T>A (n.757+4267T>A)
c.4257T>A (p.Asn1419Lys)
c.1685T>A
c.3120T>A (p.Asn1040Lys)
c.2547T>A (p.Asn849Lys)
c.2493T>A (p.Asn831Lys)
c.718+4267T>A (n.718+4267T>A)
c.2469T>A (p.Asn823Lys)
c.755+4267T>A
c.2094T>A (p.Asn698Lys)
n.833+4267T>A
c.4227T>A (p.Asn1409Lys)
c.4269T>A (p.Asn1423Lys)
c.4248T>A (p.Asn1416Lys)
c.4242T>A (p.Asn1414Lys)
c.4221T>A (p.Asn1407Lys)
c.3132T>A (p.Asn1044Lys)
c.4230T>A (p.Asn1410Lys)
n.834+4267T>A
11g.70486037T>ACA381683230SHANK2c.2489A>T (p.Asn830Ile)
c.757+4266A>T (n.757+4266A>T)
c.4256A>T (p.Asn1419Ile)
c.1684A>T
c.3119A>T (p.Asn1040Ile)
c.2546A>T (p.Asn849Ile)
c.2492A>T (p.Asn831Ile)
c.718+4266A>T (n.718+4266A>T)
c.2468A>T (p.Asn823Ile)
c.755+4266A>T
c.2093A>T (p.Asn698Ile)
n.833+4266A>T
c.4226A>T (p.Asn1409Ile)
c.4268A>T (p.Asn1423Ile)
c.4247A>T (p.Asn1416Ile)
c.4241A>T (p.Asn1414Ile)
c.4220A>T (p.Asn1407Ile)
c.3131A>T (p.Asn1044Ile)
c.4229A>T (p.Asn1410Ile)
n.834+4266A>T
11g.70486037T>CCA381683225SHANK2c.2489A>G (p.Asn830Ser)
c.757+4266A>G (n.757+4266A>G)
c.4256A>G (p.Asn1419Ser)
c.1684A>G
c.3119A>G (p.Asn1040Ser)
c.2546A>G (p.Asn849Ser)
c.2492A>G (p.Asn831Ser)
c.718+4266A>G (n.718+4266A>G)
c.2468A>G (p.Asn823Ser)
c.755+4266A>G
c.2093A>G (p.Asn698Ser)
n.833+4266A>G
c.4226A>G (p.Asn1409Ser)
c.4268A>G (p.Asn1423Ser)
c.4247A>G (p.Asn1416Ser)
c.4241A>G (p.Asn1414Ser)
c.4220A>G (p.Asn1407Ser)
c.3131A>G (p.Asn1044Ser)
c.4229A>G (p.Asn1410Ser)
n.834+4266A>G
11g.70486037T>GCA381683226SHANK2c.2489A>C (p.Asn830Thr)
c.757+4266A>C (n.757+4266A>C)
c.4256A>C (p.Asn1419Thr)
c.1684A>C
c.3119A>C (p.Asn1040Thr)
c.2546A>C (p.Asn849Thr)
c.2492A>C (p.Asn831Thr)
c.718+4266A>C (n.718+4266A>C)
c.2468A>C (p.Asn823Thr)
c.755+4266A>C
c.2093A>C (p.Asn698Thr)
n.833+4266A>C
c.4226A>C (p.Asn1409Thr)
c.4268A>C (p.Asn1423Thr)
c.4247A>C (p.Asn1416Thr)
c.4241A>C (p.Asn1414Thr)
c.4220A>C (p.Asn1407Thr)
c.3131A>C (p.Asn1044Thr)
c.4229A>C (p.Asn1410Thr)
n.834+4266A>C
11g.70486038T>ACA381683235SHANK2c.2488A>T (p.Asn830Tyr)
c.757+4265A>T (n.757+4265A>T)
c.4255A>T (p.Asn1419Tyr)
c.1683A>T
c.3118A>T (p.Asn1040Tyr)
c.2545A>T (p.Asn849Tyr)
c.2491A>T (p.Asn831Tyr)
c.718+4265A>T (n.718+4265A>T)
c.2467A>T (p.Asn823Tyr)
c.755+4265A>T
c.2092A>T (p.Asn698Tyr)
n.833+4265A>T
c.4225A>T (p.Asn1409Tyr)
c.4267A>T (p.Asn1423Tyr)
c.4246A>T (p.Asn1416Tyr)
c.4240A>T (p.Asn1414Tyr)
c.4219A>T (p.Asn1407Tyr)
c.3130A>T (p.Asn1044Tyr)
c.4228A>T (p.Asn1410Tyr)
n.834+4265A>T
11g.70486038T>CCA381683236SHANK2c.2488A>G (p.Asn830Asp)
c.757+4265A>G (n.757+4265A>G)
c.4255A>G (p.Asn1419Asp)
c.1683A>G
c.3118A>G (p.Asn1040Asp)
c.2545A>G (p.Asn849Asp)
c.2491A>G (p.Asn831Asp)
c.718+4265A>G (n.718+4265A>G)
c.2467A>G (p.Asn823Asp)
c.755+4265A>G
c.2092A>G (p.Asn698Asp)
n.833+4265A>G
c.4225A>G (p.Asn1409Asp)
c.4267A>G (p.Asn1423Asp)
c.4246A>G (p.Asn1416Asp)
c.4240A>G (p.Asn1414Asp)
c.4219A>G (p.Asn1407Asp)
c.3130A>G (p.Asn1044Asp)
c.4228A>G (p.Asn1410Asp)
n.834+4265A>G
11g.70486038T>GCA381683239SHANK2c.2488A>C (p.Asn830His)
c.757+4265A>C (n.757+4265A>C)
c.4255A>C (p.Asn1419His)
c.1683A>C
c.3118A>C (p.Asn1040His)
c.2545A>C (p.Asn849His)
c.2491A>C (p.Asn831His)
c.718+4265A>C (n.718+4265A>C)
c.2467A>C (p.Asn823His)
c.755+4265A>C
c.2092A>C (p.Asn698His)
n.833+4265A>C
c.4225A>C (p.Asn1409His)
c.4267A>C (p.Asn1423His)
c.4246A>C (p.Asn1416His)
c.4240A>C (p.Asn1414His)
c.4219A>C (p.Asn1407His)
c.3130A>C (p.Asn1044His)
c.4228A>C (p.Asn1410His)
n.834+4265A>C
11g.70486039T>ACA475471284SHANK2c.2487A>T (p.Ala829=)
c.757+4264A>T (n.757+4264A>T)
c.4254A>T (p.Ala1418=)
c.1682A>T
c.3117A>T (p.Ala1039=)
c.2544A>T (p.Ala848=)
c.2490A>T (p.Ala830=)
c.718+4264A>T (n.718+4264A>T)
c.2466A>T (p.Ala822=)
c.755+4264A>T
c.2091A>T (p.Ala697=)
n.833+4264A>T
c.4224A>T (p.Ala1408=)
c.4266A>T (p.Ala1422=)
c.4245A>T (p.Ala1415=)
c.4239A>T (p.Ala1413=)
c.4218A>T (p.Ala1406=)
c.3129A>T (p.Ala1043=)
c.4227A>T (p.Ala1409=)
n.834+4264A>T
11g.70486039T>CCA475471285SHANK2c.2487A>G (p.Ala829=)
c.757+4264A>G (n.757+4264A>G)
c.4254A>G (p.Ala1418=)
c.1682A>G
c.3117A>G (p.Ala1039=)
c.2544A>G (p.Ala848=)
c.2490A>G (p.Ala830=)
c.718+4264A>G (n.718+4264A>G)
c.2466A>G (p.Ala822=)
c.755+4264A>G
c.2091A>G (p.Ala697=)
n.833+4264A>G
c.4224A>G (p.Ala1408=)
c.4266A>G (p.Ala1422=)
c.4245A>G (p.Ala1415=)
c.4239A>G (p.Ala1413=)
c.4218A>G (p.Ala1406=)
c.3129A>G (p.Ala1043=)
c.4227A>G (p.Ala1409=)
n.834+4264A>G
11g.70486039T>GCA475471287SHANK2c.2487A>C (p.Ala829=)
c.757+4264A>C (n.757+4264A>C)
c.4254A>C (p.Ala1418=)
c.1682A>C
c.3117A>C (p.Ala1039=)
c.2544A>C (p.Ala848=)
c.2490A>C (p.Ala830=)
c.718+4264A>C (n.718+4264A>C)
c.2466A>C (p.Ala822=)
c.755+4264A>C
c.2091A>C (p.Ala697=)
n.833+4264A>C
c.4224A>C (p.Ala1408=)
c.4266A>C (p.Ala1422=)
c.4245A>C (p.Ala1415=)
c.4239A>C (p.Ala1413=)
c.4218A>C (p.Ala1406=)
c.3129A>C (p.Ala1043=)
c.4227A>C (p.Ala1409=)
n.834+4264A>C
11g.70486040G>ACA381683242SHANK2c.2486C>T (p.Ala829Val)
c.757+4263C>T (n.757+4263C>T)
c.4253C>T (p.Ala1418Val)
c.1681C>T
c.3116C>T (p.Ala1039Val)
c.2543C>T (p.Ala848Val)
c.2489C>T (p.Ala830Val)
c.718+4263C>T (n.718+4263C>T)
c.2465C>T (p.Ala822Val)
c.755+4263C>T
c.2090C>T (p.Ala697Val)
n.833+4263C>T
c.4223C>T (p.Ala1408Val)
c.4265C>T (p.Ala1422Val)
c.4244C>T (p.Ala1415Val)
c.4238C>T (p.Ala1413Val)
c.4217C>T (p.Ala1406Val)
c.3128C>T (p.Ala1043Val)
c.4226C>T (p.Ala1409Val)
n.834+4263C>T
11g.70486040G>CCA381683245SHANK2c.2486C>G (p.Ala829Gly)
c.757+4263C>G (n.757+4263C>G)
c.4253C>G (p.Ala1418Gly)
c.1681C>G
c.3116C>G (p.Ala1039Gly)
c.2543C>G (p.Ala848Gly)
c.2489C>G (p.Ala830Gly)
c.718+4263C>G (n.718+4263C>G)
c.2465C>G (p.Ala822Gly)
c.755+4263C>G
c.2090C>G (p.Ala697Gly)
n.833+4263C>G
c.4223C>G (p.Ala1408Gly)
c.4265C>G (p.Ala1422Gly)
c.4244C>G (p.Ala1415Gly)
c.4238C>G (p.Ala1413Gly)
c.4217C>G (p.Ala1406Gly)
c.3128C>G (p.Ala1043Gly)
c.4226C>G (p.Ala1409Gly)
n.834+4263C>G
11g.70486040G>TCA381683248SHANK2c.2486C>A (p.Ala829Glu)
c.757+4263C>A (n.757+4263C>A)
c.4253C>A (p.Ala1418Glu)
c.1681C>A
c.3116C>A (p.Ala1039Glu)
c.2543C>A (p.Ala848Glu)
c.2489C>A (p.Ala830Glu)
c.718+4263C>A (n.718+4263C>A)
c.2465C>A (p.Ala822Glu)
c.755+4263C>A
c.2090C>A (p.Ala697Glu)
n.833+4263C>A
c.4223C>A (p.Ala1408Glu)
c.4265C>A (p.Ala1422Glu)
c.4244C>A (p.Ala1415Glu)
c.4238C>A (p.Ala1413Glu)
c.4217C>A (p.Ala1406Glu)
c.3128C>A (p.Ala1043Glu)
c.4226C>A (p.Ala1409Glu)
n.834+4263C>A
11g.70486041C>ACA381683261SHANK2c.2485G>T (p.Ala829Ser)
c.757+4262G>T (n.757+4262G>T)
c.4252G>T (p.Ala1418Ser)
c.1680G>T
c.3115G>T (p.Ala1039Ser)
c.2542G>T (p.Ala848Ser)
c.2488G>T (p.Ala830Ser)
c.718+4262G>T (n.718+4262G>T)
c.2464G>T (p.Ala822Ser)
c.755+4262G>T
c.2089G>T (p.Ala697Ser)
n.833+4262G>T
c.4222G>T (p.Ala1408Ser)
c.4264G>T (p.Ala1422Ser)
c.4243G>T (p.Ala1415Ser)
c.4237G>T (p.Ala1413Ser)
c.4216G>T (p.Ala1406Ser)
c.3127G>T (p.Ala1043Ser)
c.4225G>T (p.Ala1409Ser)
n.834+4262G>T
 gnomAD v4
11g.70486041C=CA1981074306SHANK2c.2485G= (p.Ala829=)
c.757+4262G= (n.757+4262G=)
c.4252G= (p.Ala1418=)
c.1680G=
c.3115G= (p.Ala1039=)
c.2542G= (p.Ala848=)
c.2488G= (p.Ala830=)
c.718+4262G= (n.718+4262G=)
c.2464G= (p.Ala822=)
c.755+4262G=
c.2089G= (p.Ala697=)
n.833+4262G=
c.4222G= (p.Ala1408=)
c.4264G= (p.Ala1422=)
c.4243G= (p.Ala1415=)
c.4237G= (p.Ala1413=)
c.4216G= (p.Ala1406=)
c.3127G= (p.Ala1043=)
c.4225G= (p.Ala1409=)
n.834+4262G=
11g.70486041C>GCA381683265SHANK2c.2485G>C (p.Ala829Pro)
c.757+4262G>C (n.757+4262G>C)
c.4252G>C (p.Ala1418Pro)
c.1680G>C
c.3115G>C (p.Ala1039Pro)
c.2542G>C (p.Ala848Pro)
c.2488G>C (p.Ala830Pro)
c.718+4262G>C (n.718+4262G>C)
c.2464G>C (p.Ala822Pro)
c.755+4262G>C
c.2089G>C (p.Ala697Pro)
n.833+4262G>C
c.4222G>C (p.Ala1408Pro)
c.4264G>C (p.Ala1422Pro)
c.4243G>C (p.Ala1415Pro)
c.4237G>C (p.Ala1413Pro)
c.4216G>C (p.Ala1406Pro)
c.3127G>C (p.Ala1043Pro)
c.4225G>C (p.Ala1409Pro)
n.834+4262G>C
11g.70486041C>TCA381683267SHANK2c.2485G>A (p.Ala829Thr)
c.757+4262G>A (n.757+4262G>A)
c.4252G>A (p.Ala1418Thr)
c.1680G>A
c.3115G>A (p.Ala1039Thr)
c.2542G>A (p.Ala848Thr)
c.2488G>A (p.Ala830Thr)
c.718+4262G>A (n.718+4262G>A)
c.2464G>A (p.Ala822Thr)
c.755+4262G>A
c.2089G>A (p.Ala697Thr)
n.833+4262G>A
c.4222G>A (p.Ala1408Thr)
c.4264G>A (p.Ala1422Thr)
c.4243G>A (p.Ala1415Thr)
c.4237G>A (p.Ala1413Thr)
c.4216G>A (p.Ala1406Thr)
c.3127G>A (p.Ala1043Thr)
c.4225G>A (p.Ala1409Thr)
n.834+4262G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70486042A>CCA381683271SHANK2c.2484T>G (p.Phe828Leu)
c.757+4261T>G (n.757+4261T>G)
c.4251T>G (p.Phe1417Leu)
c.1679T>G
c.3114T>G (p.Phe1038Leu)
c.2541T>G (p.Phe847Leu)
c.2487T>G (p.Phe829Leu)
c.718+4261T>G (n.718+4261T>G)
c.2463T>G (p.Phe821Leu)
c.755+4261T>G
c.2088T>G (p.Phe696Leu)
n.833+4261T>G
c.4221T>G (p.Phe1407Leu)
c.4263T>G (p.Phe1421Leu)
c.4242T>G (p.Phe1414Leu)
c.4236T>G (p.Phe1412Leu)
c.4215T>G (p.Phe1405Leu)
c.3126T>G (p.Phe1042Leu)
c.4224T>G (p.Phe1408Leu)
n.834+4261T>G
11g.70486042A>GCA475471288SHANK2c.2484T>C (p.Phe828=)
c.757+4261T>C (n.757+4261T>C)
c.4251T>C (p.Phe1417=)
c.1679T>C
c.3114T>C (p.Phe1038=)
c.2541T>C (p.Phe847=)
c.2487T>C (p.Phe829=)
c.718+4261T>C (n.718+4261T>C)
c.2463T>C (p.Phe821=)
c.755+4261T>C
c.2088T>C (p.Phe696=)
n.833+4261T>C
c.4221T>C (p.Phe1407=)
c.4263T>C (p.Phe1421=)
c.4242T>C (p.Phe1414=)
c.4236T>C (p.Phe1412=)
c.4215T>C (p.Phe1405=)
c.3126T>C (p.Phe1042=)
c.4224T>C (p.Phe1408=)
n.834+4261T>C
11g.70486042A>TCA381683274SHANK2c.2484T>A (p.Phe828Leu)
c.757+4261T>A (n.757+4261T>A)
c.4251T>A (p.Phe1417Leu)
c.1679T>A
c.3114T>A (p.Phe1038Leu)
c.2541T>A (p.Phe847Leu)
c.2487T>A (p.Phe829Leu)
c.718+4261T>A (n.718+4261T>A)
c.2463T>A (p.Phe821Leu)
c.755+4261T>A
c.2088T>A (p.Phe696Leu)
n.833+4261T>A
c.4221T>A (p.Phe1407Leu)
c.4263T>A (p.Phe1421Leu)
c.4242T>A (p.Phe1414Leu)
c.4236T>A (p.Phe1412Leu)
c.4215T>A (p.Phe1405Leu)
c.3126T>A (p.Phe1042Leu)
c.4224T>A (p.Phe1408Leu)
n.834+4261T>A
11g.70486043A>CCA381683282SHANK2c.2483T>G (p.Phe828Cys)
c.757+4260T>G (n.757+4260T>G)
c.4250T>G (p.Phe1417Cys)
c.1678T>G
c.3113T>G (p.Phe1038Cys)
c.2540T>G (p.Phe847Cys)
c.2486T>G (p.Phe829Cys)
c.718+4260T>G (n.718+4260T>G)
c.2462T>G (p.Phe821Cys)
c.755+4260T>G
c.2087T>G (p.Phe696Cys)
n.833+4260T>G
c.4220T>G (p.Phe1407Cys)
c.4262T>G (p.Phe1421Cys)
c.4241T>G (p.Phe1414Cys)
c.4235T>G (p.Phe1412Cys)
c.4214T>G (p.Phe1405Cys)
c.3125T>G (p.Phe1042Cys)
c.4223T>G (p.Phe1408Cys)
n.834+4260T>G
11g.70486043A>GCA381683280SHANK2c.2483T>C (p.Phe828Ser)
c.757+4260T>C (n.757+4260T>C)
c.4250T>C (p.Phe1417Ser)
c.1678T>C
c.3113T>C (p.Phe1038Ser)
c.2540T>C (p.Phe847Ser)
c.2486T>C (p.Phe829Ser)
c.718+4260T>C (n.718+4260T>C)
c.2462T>C (p.Phe821Ser)
c.755+4260T>C
c.2087T>C (p.Phe696Ser)
n.833+4260T>C
c.4220T>C (p.Phe1407Ser)
c.4262T>C (p.Phe1421Ser)
c.4241T>C (p.Phe1414Ser)
c.4235T>C (p.Phe1412Ser)
c.4214T>C (p.Phe1405Ser)
c.3125T>C (p.Phe1042Ser)
c.4223T>C (p.Phe1408Ser)
n.834+4260T>C
11g.70486043A>TCA381683281SHANK2c.2483T>A (p.Phe828Tyr)
c.757+4260T>A (n.757+4260T>A)
c.4250T>A (p.Phe1417Tyr)
c.1678T>A
c.3113T>A (p.Phe1038Tyr)
c.2540T>A (p.Phe847Tyr)
c.2486T>A (p.Phe829Tyr)
c.718+4260T>A (n.718+4260T>A)
c.2462T>A (p.Phe821Tyr)
c.755+4260T>A
c.2087T>A (p.Phe696Tyr)
n.833+4260T>A
c.4220T>A (p.Phe1407Tyr)
c.4262T>A (p.Phe1421Tyr)
c.4241T>A (p.Phe1414Tyr)
c.4235T>A (p.Phe1412Tyr)
c.4214T>A (p.Phe1405Tyr)
c.3125T>A (p.Phe1042Tyr)
c.4223T>A (p.Phe1408Tyr)
n.834+4260T>A
11g.70486044A>CCA381683283SHANK2c.2482T>G (p.Phe828Val)
c.757+4259T>G (n.757+4259T>G)
c.4249T>G (p.Phe1417Val)
c.1677T>G
c.3112T>G (p.Phe1038Val)
c.2539T>G (p.Phe847Val)
c.2485T>G (p.Phe829Val)
c.718+4259T>G (n.718+4259T>G)
c.2461T>G (p.Phe821Val)
c.755+4259T>G
c.2086T>G (p.Phe696Val)
n.833+4259T>G
c.4219T>G (p.Phe1407Val)
c.4261T>G (p.Phe1421Val)
c.4240T>G (p.Phe1414Val)
c.4234T>G (p.Phe1412Val)
c.4213T>G (p.Phe1405Val)
c.3124T>G (p.Phe1042Val)
c.4222T>G (p.Phe1408Val)
n.834+4259T>G
11g.70486044A>GCA381683285SHANK2c.2482T>C (p.Phe828Leu)
c.757+4259T>C (n.757+4259T>C)
c.4249T>C (p.Phe1417Leu)
c.1677T>C
c.3112T>C (p.Phe1038Leu)
c.2539T>C (p.Phe847Leu)
c.2485T>C (p.Phe829Leu)
c.718+4259T>C (n.718+4259T>C)
c.2461T>C (p.Phe821Leu)
c.755+4259T>C
c.2086T>C (p.Phe696Leu)
n.833+4259T>C
c.4219T>C (p.Phe1407Leu)
c.4261T>C (p.Phe1421Leu)
c.4240T>C (p.Phe1414Leu)
c.4234T>C (p.Phe1412Leu)
c.4213T>C (p.Phe1405Leu)
c.3124T>C (p.Phe1042Leu)
c.4222T>C (p.Phe1408Leu)
n.834+4259T>C
11g.70486044A>TCA381683287SHANK2c.2482T>A (p.Phe828Ile)
c.757+4259T>A (n.757+4259T>A)
c.4249T>A (p.Phe1417Ile)
c.1677T>A
c.3112T>A (p.Phe1038Ile)
c.2539T>A (p.Phe847Ile)
c.2485T>A (p.Phe829Ile)
c.718+4259T>A (n.718+4259T>A)
c.2461T>A (p.Phe821Ile)
c.755+4259T>A
c.2086T>A (p.Phe696Ile)
n.833+4259T>A
c.4219T>A (p.Phe1407Ile)
c.4261T>A (p.Phe1421Ile)
c.4240T>A (p.Phe1414Ile)
c.4234T>A (p.Phe1412Ile)
c.4213T>A (p.Phe1405Ile)
c.3124T>A (p.Phe1042Ile)
c.4222T>A (p.Phe1408Ile)
n.834+4259T>A
11g.70486045T>ACA381683289SHANK2c.2481A>T (p.Glu827Asp)
c.757+4258A>T (n.757+4258A>T)
c.4248A>T (p.Glu1416Asp)
c.1676A>T
c.3111A>T (p.Glu1037Asp)
c.2538A>T (p.Glu846Asp)
c.2484A>T (p.Glu828Asp)
c.718+4258A>T (n.718+4258A>T)
c.2460A>T (p.Glu820Asp)
c.755+4258A>T
c.2085A>T (p.Glu695Asp)
n.833+4258A>T
c.4218A>T (p.Glu1406Asp)
c.4260A>T (p.Glu1420Asp)
c.4239A>T (p.Glu1413Asp)
c.4233A>T (p.Glu1411Asp)
c.4212A>T (p.Glu1404Asp)
c.3123A>T (p.Glu1041Asp)
c.4221A>T (p.Glu1407Asp)
n.834+4258A>T
11g.70486045T>CCA475471293SHANK2c.2481A>G (p.Glu827=)
c.757+4258A>G (n.757+4258A>G)
c.4248A>G (p.Glu1416=)
c.1676A>G
c.3111A>G (p.Glu1037=)
c.2538A>G (p.Glu846=)
c.2484A>G (p.Glu828=)
c.718+4258A>G (n.718+4258A>G)
c.2460A>G (p.Glu820=)
c.755+4258A>G
c.2085A>G (p.Glu695=)
n.833+4258A>G
c.4218A>G (p.Glu1406=)
c.4260A>G (p.Glu1420=)
c.4239A>G (p.Glu1413=)
c.4233A>G (p.Glu1411=)
c.4212A>G (p.Glu1404=)
c.3123A>G (p.Glu1041=)
c.4221A>G (p.Glu1407=)
n.834+4258A>G
11g.70486045T>GCA381683293SHANK2c.2481A>C (p.Glu827Asp)
c.757+4258A>C (n.757+4258A>C)
c.4248A>C (p.Glu1416Asp)
c.1676A>C
c.3111A>C (p.Glu1037Asp)
c.2538A>C (p.Glu846Asp)
c.2484A>C (p.Glu828Asp)
c.718+4258A>C (n.718+4258A>C)
c.2460A>C (p.Glu820Asp)
c.755+4258A>C
c.2085A>C (p.Glu695Asp)
n.833+4258A>C
c.4218A>C (p.Glu1406Asp)
c.4260A>C (p.Glu1420Asp)
c.4239A>C (p.Glu1413Asp)
c.4233A>C (p.Glu1411Asp)
c.4212A>C (p.Glu1404Asp)
c.3123A>C (p.Glu1041Asp)
c.4221A>C (p.Glu1407Asp)
n.834+4258A>C
11g.70486046T>ACA381683295SHANK2c.2480A>T (p.Glu827Val)
c.757+4257A>T (n.757+4257A>T)
c.4247A>T (p.Glu1416Val)
c.1675A>T
c.3110A>T (p.Glu1037Val)
c.2537A>T (p.Glu846Val)
c.2483A>T (p.Glu828Val)
c.718+4257A>T (n.718+4257A>T)
c.2459A>T (p.Glu820Val)
c.755+4257A>T
c.2084A>T (p.Glu695Val)
n.833+4257A>T
c.4217A>T (p.Glu1406Val)
c.4259A>T (p.Glu1420Val)
c.4238A>T (p.Glu1413Val)
c.4232A>T (p.Glu1411Val)
c.4211A>T (p.Glu1404Val)
c.3122A>T (p.Glu1041Val)
c.4220A>T (p.Glu1407Val)
n.834+4257A>T
11g.70486046T>CCA381683297SHANK2c.2480A>G (p.Glu827Gly)
c.757+4257A>G (n.757+4257A>G)
c.4247A>G (p.Glu1416Gly)
c.1675A>G
c.3110A>G (p.Glu1037Gly)
c.2537A>G (p.Glu846Gly)
c.2483A>G (p.Glu828Gly)
c.718+4257A>G (n.718+4257A>G)
c.2459A>G (p.Glu820Gly)
c.755+4257A>G
c.2084A>G (p.Glu695Gly)
n.833+4257A>G
c.4217A>G (p.Glu1406Gly)
c.4259A>G (p.Glu1420Gly)
c.4238A>G (p.Glu1413Gly)
c.4232A>G (p.Glu1411Gly)
c.4211A>G (p.Glu1404Gly)
c.3122A>G (p.Glu1041Gly)
c.4220A>G (p.Glu1407Gly)
n.834+4257A>G
11g.70486046T>GCA381683299SHANK2c.2480A>C (p.Glu827Ala)
c.757+4257A>C (n.757+4257A>C)
c.4247A>C (p.Glu1416Ala)
c.1675A>C
c.3110A>C (p.Glu1037Ala)
c.2537A>C (p.Glu846Ala)
c.2483A>C (p.Glu828Ala)
c.718+4257A>C (n.718+4257A>C)
c.2459A>C (p.Glu820Ala)
c.755+4257A>C
c.2084A>C (p.Glu695Ala)
n.833+4257A>C
c.4217A>C (p.Glu1406Ala)
c.4259A>C (p.Glu1420Ala)
c.4238A>C (p.Glu1413Ala)
c.4232A>C (p.Glu1411Ala)
c.4211A>C (p.Glu1404Ala)
c.3122A>C (p.Glu1041Ala)
c.4220A>C (p.Glu1407Ala)
n.834+4257A>C
11g.70486047C>ACA381683302SHANK2c.2479G>T (p.Glu827Ter)
c.757+4256G>T (n.757+4256G>T)
c.4246G>T (p.Glu1416Ter)
c.1674G>T
c.3109G>T (p.Glu1037Ter)
c.2536G>T (p.Glu846Ter)
c.2482G>T (p.Glu828Ter)
c.718+4256G>T (n.718+4256G>T)
c.2458G>T (p.Glu820Ter)
c.755+4256G>T
c.2083G>T (p.Glu695Ter)
n.833+4256G>T
c.4216G>T (p.Glu1406Ter)
c.4258G>T (p.Glu1420Ter)
c.4237G>T (p.Glu1413Ter)
c.4231G>T (p.Glu1411Ter)
c.4210G>T (p.Glu1404Ter)
c.3121G>T (p.Glu1041Ter)
c.4219G>T (p.Glu1407Ter)
n.834+4256G>T
11g.70486047C=CA1981074310SHANK2c.2479G= (p.Glu827=)
c.757+4256G= (n.757+4256G=)
c.4246G= (p.Glu1416=)
c.1674G=
c.3109G= (p.Glu1037=)
c.2536G= (p.Glu846=)
c.2482G= (p.Glu828=)
c.718+4256G= (n.718+4256G=)
c.2458G= (p.Glu820=)
c.755+4256G=
c.2083G= (p.Glu695=)
n.833+4256G=
c.4216G= (p.Glu1406=)
c.4258G= (p.Glu1420=)
c.4237G= (p.Glu1413=)
c.4231G= (p.Glu1411=)
c.4210G= (p.Glu1404=)
c.3121G= (p.Glu1041=)
c.4219G= (p.Glu1407=)
n.834+4256G=
11g.70486047C>GCA6160951SHANK2c.2479G>C (p.Glu827Gln)
c.757+4256G>C (n.757+4256G>C)
c.4246G>C (p.Glu1416Gln)
c.1674G>C
c.3109G>C (p.Glu1037Gln)
c.2536G>C (p.Glu846Gln)
c.2482G>C (p.Glu828Gln)
c.718+4256G>C (n.718+4256G>C)
c.2458G>C (p.Glu820Gln)
c.755+4256G>C
c.2083G>C (p.Glu695Gln)
n.833+4256G>C
c.4216G>C (p.Glu1406Gln)
c.4258G>C (p.Glu1420Gln)
c.4237G>C (p.Glu1413Gln)
c.4231G>C (p.Glu1411Gln)
c.4210G>C (p.Glu1404Gln)
c.3121G>C (p.Glu1041Gln)
c.4219G>C (p.Glu1407Gln)
n.834+4256G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70486047C>TCA381683307SHANK2c.2479G>A (p.Glu827Lys)
c.757+4256G>A (n.757+4256G>A)
c.4246G>A (p.Glu1416Lys)
c.1674G>A
c.3109G>A (p.Glu1037Lys)
c.2536G>A (p.Glu846Lys)
c.2482G>A (p.Glu828Lys)
c.718+4256G>A (n.718+4256G>A)
c.2458G>A (p.Glu820Lys)
c.755+4256G>A
c.2083G>A (p.Glu695Lys)
n.833+4256G>A
c.4216G>A (p.Glu1406Lys)
c.4258G>A (p.Glu1420Lys)
c.4237G>A (p.Glu1413Lys)
c.4231G>A (p.Glu1411Lys)
c.4210G>A (p.Glu1404Lys)
c.3121G>A (p.Glu1041Lys)
c.4219G>A (p.Glu1407Lys)
n.834+4256G>A
 COSMIC COSMIC COSMIC
11g.70486048C>ACA475471297SHANK2c.2478G>T (p.Leu826=)
c.757+4255G>T (n.757+4255G>T)
c.4245G>T (p.Leu1415=)
c.1673G>T
c.3108G>T (p.Leu1036=)
c.2535G>T (p.Leu845=)
c.2481G>T (p.Leu827=)
c.718+4255G>T (n.718+4255G>T)
c.2457G>T (p.Leu819=)
c.755+4255G>T
c.2082G>T (p.Leu694=)
n.833+4255G>T
c.4215G>T (p.Leu1405=)
c.4257G>T (p.Leu1419=)
c.4236G>T (p.Leu1412=)
c.4230G>T (p.Leu1410=)
c.4209G>T (p.Leu1403=)
c.3120G>T (p.Leu1040=)
c.4218G>T (p.Leu1406=)
n.834+4255G>T
11g.70486048C>GCA475471300SHANK2c.2478G>C (p.Leu826=)
c.757+4255G>C (n.757+4255G>C)
c.4245G>C (p.Leu1415=)
c.1673G>C
c.3108G>C (p.Leu1036=)
c.2535G>C (p.Leu845=)
c.2481G>C (p.Leu827=)
c.718+4255G>C (n.718+4255G>C)
c.2457G>C (p.Leu819=)
c.755+4255G>C
c.2082G>C (p.Leu694=)
n.833+4255G>C
c.4215G>C (p.Leu1405=)
c.4257G>C (p.Leu1419=)
c.4236G>C (p.Leu1412=)
c.4230G>C (p.Leu1410=)
c.4209G>C (p.Leu1403=)
c.3120G>C (p.Leu1040=)
c.4218G>C (p.Leu1406=)
n.834+4255G>C
11g.70486048C>TCA475471298SHANK2c.2478G>A (p.Leu826=)
c.757+4255G>A (n.757+4255G>A)
c.4245G>A (p.Leu1415=)
c.1673G>A
c.3108G>A (p.Leu1036=)
c.2535G>A (p.Leu845=)
c.2481G>A (p.Leu827=)
c.718+4255G>A (n.718+4255G>A)
c.2457G>A (p.Leu819=)
c.755+4255G>A
c.2082G>A (p.Leu694=)
n.833+4255G>A
c.4215G>A (p.Leu1405=)
c.4257G>A (p.Leu1419=)
c.4236G>A (p.Leu1412=)
c.4230G>A (p.Leu1410=)
c.4209G>A (p.Leu1403=)
c.3120G>A (p.Leu1040=)
c.4218G>A (p.Leu1406=)
n.834+4255G>A
 gnomAD v4 COSMIC COSMIC COSMIC
11g.70486049A>CCA381683311SHANK2c.2477T>G (p.Leu826Arg)
c.757+4254T>G (n.757+4254T>G)
c.4244T>G (p.Leu1415Arg)
c.1672T>G
c.3107T>G (p.Leu1036Arg)
c.2534T>G (p.Leu845Arg)
c.2480T>G (p.Leu827Arg)
c.718+4254T>G (n.718+4254T>G)
c.2456T>G (p.Leu819Arg)
c.755+4254T>G
c.2081T>G (p.Leu694Arg)
n.833+4254T>G
c.4214T>G (p.Leu1405Arg)
c.4256T>G (p.Leu1419Arg)
c.4235T>G (p.Leu1412Arg)
c.4229T>G (p.Leu1410Arg)
c.4208T>G (p.Leu1403Arg)
c.3119T>G (p.Leu1040Arg)
c.4217T>G (p.Leu1406Arg)
n.834+4254T>G
11g.70486049A>GCA381683310SHANK2c.2477T>C (p.Leu826Pro)
c.757+4254T>C (n.757+4254T>C)
c.4244T>C (p.Leu1415Pro)
c.1672T>C
c.3107T>C (p.Leu1036Pro)
c.2534T>C (p.Leu845Pro)
c.2480T>C (p.Leu827Pro)
c.718+4254T>C (n.718+4254T>C)
c.2456T>C (p.Leu819Pro)
c.755+4254T>C
c.2081T>C (p.Leu694Pro)
n.833+4254T>C
c.4214T>C (p.Leu1405Pro)
c.4256T>C (p.Leu1419Pro)
c.4235T>C (p.Leu1412Pro)
c.4229T>C (p.Leu1410Pro)
c.4208T>C (p.Leu1403Pro)
c.3119T>C (p.Leu1040Pro)
c.4217T>C (p.Leu1406Pro)
n.834+4254T>C
 gnomAD v4
11g.70486049A>TCA381683309SHANK2c.2477T>A (p.Leu826Gln)
c.757+4254T>A (n.757+4254T>A)
c.4244T>A (p.Leu1415Gln)
c.1672T>A
c.3107T>A (p.Leu1036Gln)
c.2534T>A (p.Leu845Gln)
c.2480T>A (p.Leu827Gln)
c.718+4254T>A (n.718+4254T>A)
c.2456T>A (p.Leu819Gln)
c.755+4254T>A
c.2081T>A (p.Leu694Gln)
n.833+4254T>A
c.4214T>A (p.Leu1405Gln)
c.4256T>A (p.Leu1419Gln)
c.4235T>A (p.Leu1412Gln)
c.4229T>A (p.Leu1410Gln)
c.4208T>A (p.Leu1403Gln)
c.3119T>A (p.Leu1040Gln)
c.4217T>A (p.Leu1406Gln)
n.834+4254T>A
11g.70486050G>ACA6160952SHANK2c.2476C>T (p.Leu826=)
c.757+4253C>T (n.757+4253C>T)
c.4243C>T (p.Leu1415=)
c.1671C>T
c.3106C>T (p.Leu1036=)
c.2533C>T (p.Leu845=)
c.2479C>T (p.Leu827=)
c.718+4253C>T (n.718+4253C>T)
c.2455C>T (p.Leu819=)
c.755+4253C>T
c.2080C>T (p.Leu694=)
n.833+4253C>T
c.4213C>T (p.Leu1405=)
c.4255C>T (p.Leu1419=)
c.4234C>T (p.Leu1412=)
c.4228C>T (p.Leu1410=)
c.4207C>T (p.Leu1403=)
c.3118C>T (p.Leu1040=)
c.4216C>T (p.Leu1406=)
n.834+4253C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70486050G>CCA381683312SHANK2c.2476C>G (p.Leu826Val)
c.757+4253C>G (n.757+4253C>G)
c.4243C>G (p.Leu1415Val)
c.1671C>G
c.3106C>G (p.Leu1036Val)
c.2533C>G (p.Leu845Val)
c.2479C>G (p.Leu827Val)
c.718+4253C>G (n.718+4253C>G)
c.2455C>G (p.Leu819Val)
c.755+4253C>G
c.2080C>G (p.Leu694Val)
n.833+4253C>G
c.4213C>G (p.Leu1405Val)
c.4255C>G (p.Leu1419Val)
c.4234C>G (p.Leu1412Val)
c.4228C>G (p.Leu1410Val)
c.4207C>G (p.Leu1403Val)
c.3118C>G (p.Leu1040Val)
c.4216C>G (p.Leu1406Val)
n.834+4253C>G
11g.70486050G=CA1981074313SHANK2c.2476C= (p.Leu826=)
c.757+4253C= (n.757+4253C=)
c.4243C= (p.Leu1415=)
c.1671C=
c.3106C= (p.Leu1036=)
c.2533C= (p.Leu845=)
c.2479C= (p.Leu827=)
c.718+4253C= (n.718+4253C=)
c.2455C= (p.Leu819=)
c.755+4253C=
c.2080C= (p.Leu694=)
n.833+4253C=
c.4213C= (p.Leu1405=)
c.4255C= (p.Leu1419=)
c.4234C= (p.Leu1412=)
c.4228C= (p.Leu1410=)
c.4207C= (p.Leu1403=)
c.3118C= (p.Leu1040=)
c.4216C= (p.Leu1406=)
n.834+4253C=
11g.70486050G>TCA381683313SHANK2c.2476C>A (p.Leu826Met)
c.757+4253C>A (n.757+4253C>A)
c.4243C>A (p.Leu1415Met)
c.1671C>A
c.3106C>A (p.Leu1036Met)
c.2533C>A (p.Leu845Met)
c.2479C>A (p.Leu827Met)
c.718+4253C>A (n.718+4253C>A)
c.2455C>A (p.Leu819Met)
c.755+4253C>A
c.2080C>A (p.Leu694Met)
n.833+4253C>A
c.4213C>A (p.Leu1405Met)
c.4255C>A (p.Leu1419Met)
c.4234C>A (p.Leu1412Met)
c.4228C>A (p.Leu1410Met)
c.4207C>A (p.Leu1403Met)
c.3118C>A (p.Leu1040Met)
c.4216C>A (p.Leu1406Met)
n.834+4253C>A
 ClinVar
11g.70486050_70486051insCAGAAGTCCA2792603935SHANK2c.2475_2476insGACTTCTG (p.Leu826AspfsTer26)
c.757+4252_757+4253insGACTTCTG (n.757+4252_757+4253insGACTTCTG)
c.4242_4243insGACTTCTG (p.Leu1415AspfsTer26)
c.1670_1671insGACTTCTG
c.3105_3106insGACTTCTG (p.Leu1036AspfsTer26)
c.2532_2533insGACTTCTG (p.Leu845AspfsTer26)
c.2478_2479insGACTTCTG (p.Leu827AspfsTer26)
c.718+4252_718+4253insGACTTCTG (n.718+4252_718+4253insGACTTCTG)
c.2454_2455insGACTTCTG (p.Leu819AspfsTer26)
c.755+4252_755+4253insGACTTCTG
c.2079_2080insGACTTCTG (p.Leu694AspfsTer26)
n.833+4252_833+4253insGACTTCTG
c.4212_4213insGACTTCTG (p.Leu1405AspfsTer26)
c.4254_4255insGACTTCTG (p.Leu1419AspfsTer26)
c.4233_4234insGACTTCTG (p.Leu1412AspfsTer26)
c.4227_4228insGACTTCTG (p.Leu1410AspfsTer26)
c.4206_4207insGACTTCTG (p.Leu1403AspfsTer26)
c.3117_3118insGACTTCTG (p.Leu1040AspfsTer26)
c.4215_4216insGACTTCTG (p.Leu1406AspfsTer26)
n.834+4252_834+4253insGACTTCTG
11g.70486051G>ACA475471301SHANK2c.2475C>T (p.Pro825=)
c.757+4252C>T (n.757+4252C>T)
c.4242C>T (p.Pro1414=)
c.1670C>T
c.3105C>T (p.Pro1035=)
c.2532C>T (p.Pro844=)
c.2478C>T (p.Pro826=)
c.718+4252C>T (n.718+4252C>T)
c.2454C>T (p.Pro818=)
c.755+4252C>T
c.2079C>T (p.Pro693=)
n.833+4252C>T
c.4212C>T (p.Pro1404=)
c.4254C>T (p.Pro1418=)
c.4233C>T (p.Pro1411=)
c.4227C>T (p.Pro1409=)
c.4206C>T (p.Pro1402=)
c.3117C>T (p.Pro1039=)
c.4215C>T (p.Pro1405=)
n.834+4252C>T
 dbSNP
11g.70486051G>CCA475471302SHANK2c.2475C>G (p.Pro825=)
c.757+4252C>G (n.757+4252C>G)
c.4242C>G (p.Pro1414=)
c.1670C>G
c.3105C>G (p.Pro1035=)
c.2532C>G (p.Pro844=)
c.2478C>G (p.Pro826=)
c.718+4252C>G (n.718+4252C>G)
c.2454C>G (p.Pro818=)
c.755+4252C>G
c.2079C>G (p.Pro693=)
n.833+4252C>G
c.4212C>G (p.Pro1404=)
c.4254C>G (p.Pro1418=)
c.4233C>G (p.Pro1411=)
c.4227C>G (p.Pro1409=)
c.4206C>G (p.Pro1402=)
c.3117C>G (p.Pro1039=)
c.4215C>G (p.Pro1405=)
n.834+4252C>G
11g.70486051G=CA1981074319SHANK2c.2475C= (p.Pro825=)
c.757+4252C= (n.757+4252C=)
c.4242C= (p.Pro1414=)
c.1670C=
c.3105C= (p.Pro1035=)
c.2532C= (p.Pro844=)
c.2478C= (p.Pro826=)
c.718+4252C= (n.718+4252C=)
c.2454C= (p.Pro818=)
c.755+4252C=
c.2079C= (p.Pro693=)
n.833+4252C=
c.4212C= (p.Pro1404=)
c.4254C= (p.Pro1418=)
c.4233C= (p.Pro1411=)
c.4227C= (p.Pro1409=)
c.4206C= (p.Pro1402=)
c.3117C= (p.Pro1039=)
c.4215C= (p.Pro1405=)
n.834+4252C=
11g.70486051G>TCA475471304SHANK2c.2475C>A (p.Pro825=)
c.757+4252C>A (n.757+4252C>A)
c.4242C>A (p.Pro1414=)
c.1670C>A
c.3105C>A (p.Pro1035=)
c.2532C>A (p.Pro844=)
c.2478C>A (p.Pro826=)
c.718+4252C>A (n.718+4252C>A)
c.2454C>A (p.Pro818=)
c.755+4252C>A
c.2079C>A (p.Pro693=)
n.833+4252C>A
c.4212C>A (p.Pro1404=)
c.4254C>A (p.Pro1418=)
c.4233C>A (p.Pro1411=)
c.4227C>A (p.Pro1409=)
c.4206C>A (p.Pro1402=)
c.3117C>A (p.Pro1039=)
c.4215C>A (p.Pro1405=)
n.834+4252C>A
11g.70486052G>ACA381683315SHANK2c.2474C>T (p.Pro825Leu)
c.757+4251C>T (n.757+4251C>T)
c.4241C>T (p.Pro1414Leu)
c.1669C>T
c.3104C>T (p.Pro1035Leu)
c.2531C>T (p.Pro844Leu)
c.2477C>T (p.Pro826Leu)
c.718+4251C>T (n.718+4251C>T)
c.2453C>T (p.Pro818Leu)
c.755+4251C>T
c.2078C>T (p.Pro693Leu)
n.833+4251C>T
c.4211C>T (p.Pro1404Leu)
c.4253C>T (p.Pro1418Leu)
c.4232C>T (p.Pro1411Leu)
c.4226C>T (p.Pro1409Leu)
c.4205C>T (p.Pro1402Leu)
c.3116C>T (p.Pro1039Leu)
c.4214C>T (p.Pro1405Leu)
n.834+4251C>T
11g.70486052G>CCA381683318SHANK2c.2474C>G (p.Pro825Arg)
c.757+4251C>G (n.757+4251C>G)
c.4241C>G (p.Pro1414Arg)
c.1669C>G
c.3104C>G (p.Pro1035Arg)
c.2531C>G (p.Pro844Arg)
c.2477C>G (p.Pro826Arg)
c.718+4251C>G (n.718+4251C>G)
c.2453C>G (p.Pro818Arg)
c.755+4251C>G
c.2078C>G (p.Pro693Arg)
n.833+4251C>G
c.4211C>G (p.Pro1404Arg)
c.4253C>G (p.Pro1418Arg)
c.4232C>G (p.Pro1411Arg)
c.4226C>G (p.Pro1409Arg)
c.4205C>G (p.Pro1402Arg)
c.3116C>G (p.Pro1039Arg)
c.4214C>G (p.Pro1405Arg)
n.834+4251C>G
11g.70486052G>TCA381683323SHANK2c.2474C>A (p.Pro825His)
c.757+4251C>A (n.757+4251C>A)
c.4241C>A (p.Pro1414His)
c.1669C>A
c.3104C>A (p.Pro1035His)
c.2531C>A (p.Pro844His)
c.2477C>A (p.Pro826His)
c.718+4251C>A (n.718+4251C>A)
c.2453C>A (p.Pro818His)
c.755+4251C>A
c.2078C>A (p.Pro693His)
n.833+4251C>A
c.4211C>A (p.Pro1404His)
c.4253C>A (p.Pro1418His)
c.4232C>A (p.Pro1411His)
c.4226C>A (p.Pro1409His)
c.4205C>A (p.Pro1402His)
c.3116C>A (p.Pro1039His)
c.4214C>A (p.Pro1405His)
n.834+4251C>A
11g.70486052_70486053insCTGGCCTGCTCA2792603936SHANK2c.2473_2474insAGCAGGCCAG (p.Pro825GlnfsTer10)
c.757+4250_757+4251insAGCAGGCCAG (n.757+4250_757+4251insAGCAGGCCAG)
c.4240_4241insAGCAGGCCAG (p.Pro1414GlnfsTer10)
c.1668_1669insAGCAGGCCAG
c.3103_3104insAGCAGGCCAG (p.Pro1035GlnfsTer10)
c.2530_2531insAGCAGGCCAG (p.Pro844GlnfsTer10)
c.2476_2477insAGCAGGCCAG (p.Pro826GlnfsTer10)
c.718+4250_718+4251insAGCAGGCCAG (n.718+4250_718+4251insAGCAGGCCAG)
c.2452_2453insAGCAGGCCAG (p.Pro818GlnfsTer10)
c.755+4250_755+4251insAGCAGGCCAG
c.2077_2078insAGCAGGCCAG (p.Pro693GlnfsTer10)
n.833+4250_833+4251insAGCAGGCCAG
c.4210_4211insAGCAGGCCAG (p.Pro1404GlnfsTer10)
c.4252_4253insAGCAGGCCAG (p.Pro1418GlnfsTer10)
c.4231_4232insAGCAGGCCAG (p.Pro1411GlnfsTer10)
c.4225_4226insAGCAGGCCAG (p.Pro1409GlnfsTer10)
c.4204_4205insAGCAGGCCAG (p.Pro1402GlnfsTer10)
c.3115_3116insAGCAGGCCAG (p.Pro1039GlnfsTer10)
c.4213_4214insAGCAGGCCAG (p.Pro1405GlnfsTer10)
n.834+4250_834+4251insAGCAGGCCAG
11g.70486053G>ACA381683326SHANK2c.2473C>T (p.Pro825Ser)
c.757+4250C>T (n.757+4250C>T)
c.4240C>T (p.Pro1414Ser)
c.1668C>T
c.3103C>T (p.Pro1035Ser)
c.2530C>T (p.Pro844Ser)
c.2476C>T (p.Pro826Ser)
c.718+4250C>T (n.718+4250C>T)
c.2452C>T (p.Pro818Ser)
c.755+4250C>T
c.2077C>T (p.Pro693Ser)
n.833+4250C>T
c.4210C>T (p.Pro1404Ser)
c.4252C>T (p.Pro1418Ser)
c.4231C>T (p.Pro1411Ser)
c.4225C>T (p.Pro1409Ser)
c.4204C>T (p.Pro1402Ser)
c.3115C>T (p.Pro1039Ser)
c.4213C>T (p.Pro1405Ser)
n.834+4250C>T
 gnomAD v4
11g.70486053G>CCA381683332SHANK2c.2473C>G (p.Pro825Ala)
c.757+4250C>G (n.757+4250C>G)
c.4240C>G (p.Pro1414Ala)
c.1668C>G
c.3103C>G (p.Pro1035Ala)
c.2530C>G (p.Pro844Ala)
c.2476C>G (p.Pro826Ala)
c.718+4250C>G (n.718+4250C>G)
c.2452C>G (p.Pro818Ala)
c.755+4250C>G
c.2077C>G (p.Pro693Ala)
n.833+4250C>G
c.4210C>G (p.Pro1404Ala)
c.4252C>G (p.Pro1418Ala)
c.4231C>G (p.Pro1411Ala)
c.4225C>G (p.Pro1409Ala)
c.4204C>G (p.Pro1402Ala)
c.3115C>G (p.Pro1039Ala)
c.4213C>G (p.Pro1405Ala)
n.834+4250C>G
11g.70486053G>TCA381683333SHANK2c.2473C>A (p.Pro825Thr)
c.757+4250C>A (n.757+4250C>A)
c.4240C>A (p.Pro1414Thr)
c.1668C>A
c.3103C>A (p.Pro1035Thr)
c.2530C>A (p.Pro844Thr)
c.2476C>A (p.Pro826Thr)
c.718+4250C>A (n.718+4250C>A)
c.2452C>A (p.Pro818Thr)
c.755+4250C>A
c.2077C>A (p.Pro693Thr)
n.833+4250C>A
c.4210C>A (p.Pro1404Thr)
c.4252C>A (p.Pro1418Thr)
c.4231C>A (p.Pro1411Thr)
c.4225C>A (p.Pro1409Thr)
c.4204C>A (p.Pro1402Thr)
c.3115C>A (p.Pro1039Thr)
c.4213C>A (p.Pro1405Thr)
n.834+4250C>A
11g.70486054A>CCA475471310SHANK2c.2472T>G (p.Pro824=)
c.757+4249T>G (n.757+4249T>G)
c.4239T>G (p.Pro1413=)
c.1667T>G
c.3102T>G (p.Pro1034=)
c.2529T>G (p.Pro843=)
c.2475T>G (p.Pro825=)
c.718+4249T>G (n.718+4249T>G)
c.2451T>G (p.Pro817=)
c.755+4249T>G
c.2076T>G (p.Pro692=)
n.833+4249T>G
c.4209T>G (p.Pro1403=)
c.4251T>G (p.Pro1417=)
c.4230T>G (p.Pro1410=)
c.4224T>G (p.Pro1408=)
c.4203T>G (p.Pro1401=)
c.3114T>G (p.Pro1038=)
c.4212T>G (p.Pro1404=)
n.834+4249T>G
11g.70486054A>GCA475471311SHANK2c.2472T>C (p.Pro824=)
c.757+4249T>C (n.757+4249T>C)
c.4239T>C (p.Pro1413=)
c.1667T>C
c.3102T>C (p.Pro1034=)
c.2529T>C (p.Pro843=)
c.2475T>C (p.Pro825=)
c.718+4249T>C (n.718+4249T>C)
c.2451T>C (p.Pro817=)
c.755+4249T>C
c.2076T>C (p.Pro692=)
n.833+4249T>C
c.4209T>C (p.Pro1403=)
c.4251T>C (p.Pro1417=)
c.4230T>C (p.Pro1410=)
c.4224T>C (p.Pro1408=)
c.4203T>C (p.Pro1401=)
c.3114T>C (p.Pro1038=)
c.4212T>C (p.Pro1404=)
n.834+4249T>C
 gnomAD v4
11g.70486054A>TCA475471312SHANK2c.2472T>A (p.Pro824=)
c.757+4249T>A (n.757+4249T>A)
c.4239T>A (p.Pro1413=)
c.1667T>A
c.3102T>A (p.Pro1034=)
c.2529T>A (p.Pro843=)
c.2475T>A (p.Pro825=)
c.718+4249T>A (n.718+4249T>A)
c.2451T>A (p.Pro817=)
c.755+4249T>A
c.2076T>A (p.Pro692=)
n.833+4249T>A
c.4209T>A (p.Pro1403=)
c.4251T>A (p.Pro1417=)
c.4230T>A (p.Pro1410=)
c.4224T>A (p.Pro1408=)
c.4203T>A (p.Pro1401=)
c.3114T>A (p.Pro1038=)
c.4212T>A (p.Pro1404=)
n.834+4249T>A
11g.70486054_70486055insTGGTGCACACCGTCA2792603937SHANK2c.2471_2472insACGGTGTGCACCA (p.Pro825ArgfsTer11)
c.757+4248_757+4249insACGGTGTGCACCA (n.757+4248_757+4249insACGGTGTGCACCA)
c.4238_4239insACGGTGTGCACCA (p.Pro1414ArgfsTer11)
c.1666_1667insACGGTGTGCACCA
c.3101_3102insACGGTGTGCACCA (p.Pro1035ArgfsTer11)
c.2528_2529insACGGTGTGCACCA (p.Pro844ArgfsTer11)
c.2474_2475insACGGTGTGCACCA (p.Pro826ArgfsTer11)
c.718+4248_718+4249insACGGTGTGCACCA (n.718+4248_718+4249insACGGTGTGCACCA)
c.2450_2451insACGGTGTGCACCA (p.Pro818ArgfsTer11)
c.755+4248_755+4249insACGGTGTGCACCA
c.2075_2076insACGGTGTGCACCA (p.Pro693ArgfsTer11)
n.833+4248_833+4249insACGGTGTGCACCA
c.4208_4209insACGGTGTGCACCA (p.Pro1404ArgfsTer11)
c.4250_4251insACGGTGTGCACCA (p.Pro1418ArgfsTer11)
c.4229_4230insACGGTGTGCACCA (p.Pro1411ArgfsTer11)
c.4223_4224insACGGTGTGCACCA (p.Pro1409ArgfsTer11)
c.4202_4203insACGGTGTGCACCA (p.Pro1402ArgfsTer11)
c.3113_3114insACGGTGTGCACCA (p.Pro1039ArgfsTer11)
c.4211_4212insACGGTGTGCACCA (p.Pro1405ArgfsTer11)
n.834+4248_834+4249insACGGTGTGCACCA
11g.70486055G>ACA381683335SHANK2c.2471C>T (p.Pro824Leu)
c.757+4248C>T (n.757+4248C>T)
c.4238C>T (p.Pro1413Leu)
c.1666C>T
c.3101C>T (p.Pro1034Leu)
c.2528C>T (p.Pro843Leu)
c.2474C>T (p.Pro825Leu)
c.718+4248C>T (n.718+4248C>T)
c.2450C>T (p.Pro817Leu)
c.755+4248C>T
c.2075C>T (p.Pro692Leu)
n.833+4248C>T
c.4208C>T (p.Pro1403Leu)
c.4250C>T (p.Pro1417Leu)
c.4229C>T (p.Pro1410Leu)
c.4223C>T (p.Pro1408Leu)
c.4202C>T (p.Pro1401Leu)
c.3113C>T (p.Pro1038Leu)
c.4211C>T (p.Pro1404Leu)
n.834+4248C>T
 dbSNP
11g.70486055G>CCA381683337SHANK2c.2471C>G (p.Pro824Arg)
c.757+4248C>G (n.757+4248C>G)
c.4238C>G (p.Pro1413Arg)
c.1666C>G
c.3101C>G (p.Pro1034Arg)
c.2528C>G (p.Pro843Arg)
c.2474C>G (p.Pro825Arg)
c.718+4248C>G (n.718+4248C>G)
c.2450C>G (p.Pro817Arg)
c.755+4248C>G
c.2075C>G (p.Pro692Arg)
n.833+4248C>G
c.4208C>G (p.Pro1403Arg)
c.4250C>G (p.Pro1417Arg)
c.4229C>G (p.Pro1410Arg)
c.4223C>G (p.Pro1408Arg)
c.4202C>G (p.Pro1401Arg)
c.3113C>G (p.Pro1038Arg)
c.4211C>G (p.Pro1404Arg)
n.834+4248C>G
11g.70486055G=CA1981074322SHANK2c.2471C= (p.Pro824=)
c.757+4248C= (n.757+4248C=)
c.4238C= (p.Pro1413=)
c.1666C=
c.3101C= (p.Pro1034=)
c.2528C= (p.Pro843=)
c.2474C= (p.Pro825=)
c.718+4248C= (n.718+4248C=)
c.2450C= (p.Pro817=)
c.755+4248C=
c.2075C= (p.Pro692=)
n.833+4248C=
c.4208C= (p.Pro1403=)
c.4250C= (p.Pro1417=)
c.4229C= (p.Pro1410=)
c.4223C= (p.Pro1408=)
c.4202C= (p.Pro1401=)
c.3113C= (p.Pro1038=)
c.4211C= (p.Pro1404=)
n.834+4248C=
11g.70486055G>TCA381683340SHANK2c.2471C>A (p.Pro824His)
c.757+4248C>A (n.757+4248C>A)
c.4238C>A (p.Pro1413His)
c.1666C>A
c.3101C>A (p.Pro1034His)
c.2528C>A (p.Pro843His)
c.2474C>A (p.Pro825His)
c.718+4248C>A (n.718+4248C>A)
c.2450C>A (p.Pro817His)
c.755+4248C>A
c.2075C>A (p.Pro692His)
n.833+4248C>A
c.4208C>A (p.Pro1403His)
c.4250C>A (p.Pro1417His)
c.4229C>A (p.Pro1410His)
c.4223C>A (p.Pro1408His)
c.4202C>A (p.Pro1401His)
c.3113C>A (p.Pro1038His)
c.4211C>A (p.Pro1404His)
n.834+4248C>A
11g.70486056G>ACA381683347SHANK2c.2470C>T (p.Pro824Ser)
c.757+4247C>T (n.757+4247C>T)
c.4237C>T (p.Pro1413Ser)
c.1665C>T
c.3100C>T (p.Pro1034Ser)
c.2527C>T (p.Pro843Ser)
c.2473C>T (p.Pro825Ser)
c.718+4247C>T (n.718+4247C>T)
c.2449C>T (p.Pro817Ser)
c.755+4247C>T
c.2074C>T (p.Pro692Ser)
n.833+4247C>T
c.4207C>T (p.Pro1403Ser)
c.4249C>T (p.Pro1417Ser)
c.4228C>T (p.Pro1410Ser)
c.4222C>T (p.Pro1408Ser)
c.4201C>T (p.Pro1401Ser)
c.3112C>T (p.Pro1038Ser)
c.4210C>T (p.Pro1404Ser)
n.834+4247C>T
11g.70486056G>CCA381683350SHANK2c.2470C>G (p.Pro824Ala)
c.757+4247C>G (n.757+4247C>G)
c.4237C>G (p.Pro1413Ala)
c.1665C>G
c.3100C>G (p.Pro1034Ala)
c.2527C>G (p.Pro843Ala)
c.2473C>G (p.Pro825Ala)
c.718+4247C>G (n.718+4247C>G)
c.2449C>G (p.Pro817Ala)
c.755+4247C>G
c.2074C>G (p.Pro692Ala)
n.833+4247C>G
c.4207C>G (p.Pro1403Ala)
c.4249C>G (p.Pro1417Ala)
c.4228C>G (p.Pro1410Ala)
c.4222C>G (p.Pro1408Ala)
c.4201C>G (p.Pro1401Ala)
c.3112C>G (p.Pro1038Ala)
c.4210C>G (p.Pro1404Ala)
n.834+4247C>G
11g.70486056G>TCA381683344SHANK2c.2470C>A (p.Pro824Thr)
c.757+4247C>A (n.757+4247C>A)
c.4237C>A (p.Pro1413Thr)
c.1665C>A
c.3100C>A (p.Pro1034Thr)
c.2527C>A (p.Pro843Thr)
c.2473C>A (p.Pro825Thr)
c.718+4247C>A (n.718+4247C>A)
c.2449C>A (p.Pro817Thr)
c.755+4247C>A
c.2074C>A (p.Pro692Thr)
n.833+4247C>A
c.4207C>A (p.Pro1403Thr)
c.4249C>A (p.Pro1417Thr)
c.4228C>A (p.Pro1410Thr)
c.4222C>A (p.Pro1408Thr)
c.4201C>A (p.Pro1401Thr)
c.3112C>A (p.Pro1038Thr)
c.4210C>A (p.Pro1404Thr)
n.834+4247C>A
11g.70486057A=CA1981074325SHANK2c.2469T= (p.Pro823=)
c.757+4246T= (n.757+4246T=)
c.4236T= (p.Pro1412=)
c.1664T=
c.3099T= (p.Pro1033=)
c.2526T= (p.Pro842=)
c.2472T= (p.Pro824=)
c.718+4246T= (n.718+4246T=)
c.2448T= (p.Pro816=)
c.755+4246T=
c.2073T= (p.Pro691=)
n.833+4246T=
c.4206T= (p.Pro1402=)
c.4248T= (p.Pro1416=)
c.4227T= (p.Pro1409=)
c.4221T= (p.Pro1407=)
c.4200T= (p.Pro1400=)
c.3111T= (p.Pro1037=)
c.4209T= (p.Pro1403=)
n.834+4246T=
11g.70486057A>CCA475471319SHANK2c.2469T>G (p.Pro823=)
c.757+4246T>G (n.757+4246T>G)
c.4236T>G (p.Pro1412=)
c.1664T>G
c.3099T>G (p.Pro1033=)
c.2526T>G (p.Pro842=)
c.2472T>G (p.Pro824=)
c.718+4246T>G (n.718+4246T>G)
c.2448T>G (p.Pro816=)
c.755+4246T>G
c.2073T>G (p.Pro691=)
n.833+4246T>G
c.4206T>G (p.Pro1402=)
c.4248T>G (p.Pro1416=)
c.4227T>G (p.Pro1409=)
c.4221T>G (p.Pro1407=)
c.4200T>G (p.Pro1400=)
c.3111T>G (p.Pro1037=)
c.4209T>G (p.Pro1403=)
n.834+4246T>G
 dbSNP gnomAD v2 gnomAD v4
11g.70486057A>GCA475471320SHANK2c.2469T>C (p.Pro823=)
c.757+4246T>C (n.757+4246T>C)
c.4236T>C (p.Pro1412=)
c.1664T>C
c.3099T>C (p.Pro1033=)
c.2526T>C (p.Pro842=)
c.2472T>C (p.Pro824=)
c.718+4246T>C (n.718+4246T>C)
c.2448T>C (p.Pro816=)
c.755+4246T>C
c.2073T>C (p.Pro691=)
n.833+4246T>C
c.4206T>C (p.Pro1402=)
c.4248T>C (p.Pro1416=)
c.4227T>C (p.Pro1409=)
c.4221T>C (p.Pro1407=)
c.4200T>C (p.Pro1400=)
c.3111T>C (p.Pro1037=)
c.4209T>C (p.Pro1403=)
n.834+4246T>C
11g.70486057A>TCA475471318SHANK2c.2469T>A (p.Pro823=)
c.757+4246T>A (n.757+4246T>A)
c.4236T>A (p.Pro1412=)
c.1664T>A
c.3099T>A (p.Pro1033=)
c.2526T>A (p.Pro842=)
c.2472T>A (p.Pro824=)
c.718+4246T>A (n.718+4246T>A)
c.2448T>A (p.Pro816=)
c.755+4246T>A
c.2073T>A (p.Pro691=)
n.833+4246T>A
c.4206T>A (p.Pro1402=)
c.4248T>A (p.Pro1416=)
c.4227T>A (p.Pro1409=)
c.4221T>A (p.Pro1407=)
c.4200T>A (p.Pro1400=)
c.3111T>A (p.Pro1037=)
c.4209T>A (p.Pro1403=)
n.834+4246T>A
11g.70486057_70486058insCCA2792603938SHANK2c.2468_2469insG (p.Pro824SerfsTer8)
c.757+4245_757+4246insG (n.757+4245_757+4246insG)
c.4235_4236insG (p.Pro1413SerfsTer8)
c.1663_1664insG
c.3098_3099insG (p.Pro1034SerfsTer8)
c.2525_2526insG (p.Pro843SerfsTer8)
c.2471_2472insG (p.Pro825SerfsTer8)
c.718+4245_718+4246insG (n.718+4245_718+4246insG)
c.2447_2448insG (p.Pro817SerfsTer8)
c.755+4245_755+4246insG
c.2072_2073insG (p.Pro692SerfsTer8)
n.833+4245_833+4246insG
c.4205_4206insG (p.Pro1403SerfsTer8)
c.4247_4248insG (p.Pro1417SerfsTer8)
c.4226_4227insG (p.Pro1410SerfsTer8)
c.4220_4221insG (p.Pro1408SerfsTer8)
c.4199_4200insG (p.Pro1401SerfsTer8)
c.3110_3111insG (p.Pro1038SerfsTer8)
c.4208_4209insG (p.Pro1404SerfsTer8)
n.834+4245_834+4246insG
11g.70486058G>ACA381683354SHANK2c.2468C>T (p.Pro823Leu)
c.757+4245C>T (n.757+4245C>T)
c.4235C>T (p.Pro1412Leu)
c.1663C>T
c.3098C>T (p.Pro1033Leu)
c.2525C>T (p.Pro842Leu)
c.2471C>T (p.Pro824Leu)
c.718+4245C>T (n.718+4245C>T)
c.2447C>T (p.Pro816Leu)
c.755+4245C>T
c.2072C>T (p.Pro691Leu)
n.833+4245C>T
c.4205C>T (p.Pro1402Leu)
c.4247C>T (p.Pro1416Leu)
c.4226C>T (p.Pro1409Leu)
c.4220C>T (p.Pro1407Leu)
c.4199C>T (p.Pro1400Leu)
c.3110C>T (p.Pro1037Leu)
c.4208C>T (p.Pro1403Leu)
n.834+4245C>T
11g.70486058G>CCA381683367SHANK2c.2468C>G (p.Pro823Arg)
c.757+4245C>G (n.757+4245C>G)
c.4235C>G (p.Pro1412Arg)
c.1663C>G
c.3098C>G (p.Pro1033Arg)
c.2525C>G (p.Pro842Arg)
c.2471C>G (p.Pro824Arg)
c.718+4245C>G (n.718+4245C>G)
c.2447C>G (p.Pro816Arg)
c.755+4245C>G
c.2072C>G (p.Pro691Arg)
n.833+4245C>G
c.4205C>G (p.Pro1402Arg)
c.4247C>G (p.Pro1416Arg)
c.4226C>G (p.Pro1409Arg)
c.4220C>G (p.Pro1407Arg)
c.4199C>G (p.Pro1400Arg)
c.3110C>G (p.Pro1037Arg)
c.4208C>G (p.Pro1403Arg)
n.834+4245C>G
11g.70486058G>TCA381683369SHANK2c.2468C>A (p.Pro823His)
c.757+4245C>A (n.757+4245C>A)
c.4235C>A (p.Pro1412His)
c.1663C>A
c.3098C>A (p.Pro1033His)
c.2525C>A (p.Pro842His)
c.2471C>A (p.Pro824His)
c.718+4245C>A (n.718+4245C>A)
c.2447C>A (p.Pro816His)
c.755+4245C>A
c.2072C>A (p.Pro691His)
n.833+4245C>A
c.4205C>A (p.Pro1402His)
c.4247C>A (p.Pro1416His)
c.4226C>A (p.Pro1409His)
c.4220C>A (p.Pro1407His)
c.4199C>A (p.Pro1400His)
c.3110C>A (p.Pro1037His)
c.4208C>A (p.Pro1403His)
n.834+4245C>A
11g.70486058_70486059insCCACTAAGCTGGACAACCA2792603939SHANK2c.2467_2468insGTTGTCCAGCTTAGTGG (p.Pro823ArgfsTer5)
c.757+4244_757+4245insGTTGTCCAGCTTAGTGG (n.757+4244_757+4245insGTTGTCCAGCTTAGTGG)
c.4234_4235insGTTGTCCAGCTTAGTGG (p.Pro1412ArgfsTer5)
c.1662_1663insGTTGTCCAGCTTAGTGG
c.3097_3098insGTTGTCCAGCTTAGTGG (p.Pro1033ArgfsTer5)
c.2524_2525insGTTGTCCAGCTTAGTGG (p.Pro842ArgfsTer5)
c.2470_2471insGTTGTCCAGCTTAGTGG (p.Pro824ArgfsTer5)
c.718+4244_718+4245insGTTGTCCAGCTTAGTGG (n.718+4244_718+4245insGTTGTCCAGCTTAGTGG)
c.2446_2447insGTTGTCCAGCTTAGTGG (p.Pro816ArgfsTer5)
c.755+4244_755+4245insGTTGTCCAGCTTAGTGG
c.2071_2072insGTTGTCCAGCTTAGTGG (p.Pro691ArgfsTer5)
n.833+4244_833+4245insGTTGTCCAGCTTAGTGG
c.4204_4205insGTTGTCCAGCTTAGTGG (p.Pro1402ArgfsTer5)
c.4246_4247insGTTGTCCAGCTTAGTGG (p.Pro1416ArgfsTer5)
c.4225_4226insGTTGTCCAGCTTAGTGG (p.Pro1409ArgfsTer5)
c.4219_4220insGTTGTCCAGCTTAGTGG (p.Pro1407ArgfsTer5)
c.4198_4199insGTTGTCCAGCTTAGTGG (p.Pro1400ArgfsTer5)
c.3109_3110insGTTGTCCAGCTTAGTGG (p.Pro1037ArgfsTer5)
c.4207_4208insGTTGTCCAGCTTAGTGG (p.Pro1403ArgfsTer5)
n.834+4244_834+4245insGTTGTCCAGCTTAGTGG
11g.70486059G>ACA6160953SHANK2c.2467C>T (p.Pro823Ser)
c.757+4244C>T (n.757+4244C>T)
c.4234C>T (p.Pro1412Ser)
c.1662C>T
c.3097C>T (p.Pro1033Ser)
c.2524C>T (p.Pro842Ser)
c.2470C>T (p.Pro824Ser)
c.718+4244C>T (n.718+4244C>T)
c.2446C>T (p.Pro816Ser)
c.755+4244C>T
c.2071C>T (p.Pro691Ser)
n.833+4244C>T
c.4204C>T (p.Pro1402Ser)
c.4246C>T (p.Pro1416Ser)
c.4225C>T (p.Pro1409Ser)
c.4219C>T (p.Pro1407Ser)
c.4198C>T (p.Pro1400Ser)
c.3109C>T (p.Pro1037Ser)
c.4207C>T (p.Pro1403Ser)
n.834+4244C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
11g.70486059G>CCA381683374SHANK2c.2467C>G (p.Pro823Ala)
c.757+4244C>G (n.757+4244C>G)
c.4234C>G (p.Pro1412Ala)
c.1662C>G
c.3097C>G (p.Pro1033Ala)
c.2524C>G (p.Pro842Ala)
c.2470C>G (p.Pro824Ala)
c.718+4244C>G (n.718+4244C>G)
c.2446C>G (p.Pro816Ala)
c.755+4244C>G
c.2071C>G (p.Pro691Ala)
n.833+4244C>G
c.4204C>G (p.Pro1402Ala)
c.4246C>G (p.Pro1416Ala)
c.4225C>G (p.Pro1409Ala)
c.4219C>G (p.Pro1407Ala)
c.4198C>G (p.Pro1400Ala)
c.3109C>G (p.Pro1037Ala)
c.4207C>G (p.Pro1403Ala)
n.834+4244C>G
11g.70486059G=CA1981074328SHANK2c.2467C= (p.Pro823=)
c.757+4244C= (n.757+4244C=)
c.4234C= (p.Pro1412=)
c.1662C=
c.3097C= (p.Pro1033=)
c.2524C= (p.Pro842=)
c.2470C= (p.Pro824=)
c.718+4244C= (n.718+4244C=)
c.2446C= (p.Pro816=)
c.755+4244C=
c.2071C= (p.Pro691=)
n.833+4244C=
c.4204C= (p.Pro1402=)
c.4246C= (p.Pro1416=)
c.4225C= (p.Pro1409=)
c.4219C= (p.Pro1407=)
c.4198C= (p.Pro1400=)
c.3109C= (p.Pro1037=)
c.4207C= (p.Pro1403=)
n.834+4244C=
11g.70486059G>TCA381683382SHANK2c.2467C>A (p.Pro823Thr)
c.757+4244C>A (n.757+4244C>A)
c.4234C>A (p.Pro1412Thr)
c.1662C>A
c.3097C>A (p.Pro1033Thr)
c.2524C>A (p.Pro842Thr)
c.2470C>A (p.Pro824Thr)
c.718+4244C>A (n.718+4244C>A)
c.2446C>A (p.Pro816Thr)
c.755+4244C>A
c.2071C>A (p.Pro691Thr)
n.833+4244C>A
c.4204C>A (p.Pro1402Thr)
c.4246C>A (p.Pro1416Thr)
c.4225C>A (p.Pro1409Thr)
c.4219C>A (p.Pro1407Thr)
c.4198C>A (p.Pro1400Thr)
c.3109C>A (p.Pro1037Thr)
c.4207C>A (p.Pro1403Thr)
n.834+4244C>A
11g.70486060C>ACA381683390SHANK2c.2466G>T (p.Leu822Phe)
c.757+4243G>T (n.757+4243G>T)
c.4233G>T (p.Leu1411Phe)
c.1661G>T
c.3096G>T (p.Leu1032Phe)
c.2523G>T (p.Leu841Phe)
c.2469G>T (p.Leu823Phe)
c.718+4243G>T (n.718+4243G>T)
c.2445G>T (p.Leu815Phe)
c.755+4243G>T
c.2070G>T (p.Leu690Phe)
n.833+4243G>T
c.4203G>T (p.Leu1401Phe)
c.4245G>T (p.Leu1415Phe)
c.4224G>T (p.Leu1408Phe)
c.4218G>T (p.Leu1406Phe)
c.4197G>T (p.Leu1399Phe)
c.3108G>T (p.Leu1036Phe)
c.4206G>T (p.Leu1402Phe)
n.834+4243G>T
11g.70486060C=CA1981074339SHANK2c.2466G= (p.Leu822=)
c.757+4243G= (n.757+4243G=)
c.4233G= (p.Leu1411=)
c.1661G=
c.3096G= (p.Leu1032=)
c.2523G= (p.Leu841=)
c.2469G= (p.Leu823=)
c.718+4243G= (n.718+4243G=)
c.2445G= (p.Leu815=)
c.755+4243G=
c.2070G= (p.Leu690=)
n.833+4243G=
c.4203G= (p.Leu1401=)
c.4245G= (p.Leu1415=)
c.4224G= (p.Leu1408=)
c.4218G= (p.Leu1406=)
c.4197G= (p.Leu1399=)
c.3108G= (p.Leu1036=)
c.4206G= (p.Leu1402=)
n.834+4243G=
11g.70486060C>GCA381683391SHANK2c.2466G>C (p.Leu822Phe)
c.757+4243G>C (n.757+4243G>C)
c.4233G>C (p.Leu1411Phe)
c.1661G>C
c.3096G>C (p.Leu1032Phe)
c.2523G>C (p.Leu841Phe)
c.2469G>C (p.Leu823Phe)
c.718+4243G>C (n.718+4243G>C)
c.2445G>C (p.Leu815Phe)
c.755+4243G>C
c.2070G>C (p.Leu690Phe)
n.833+4243G>C
c.4203G>C (p.Leu1401Phe)
c.4245G>C (p.Leu1415Phe)
c.4224G>C (p.Leu1408Phe)
c.4218G>C (p.Leu1406Phe)
c.4197G>C (p.Leu1399Phe)
c.3108G>C (p.Leu1036Phe)
c.4206G>C (p.Leu1402Phe)
n.834+4243G>C
11g.70486060C>TCA475471327SHANK2c.2466G>A (p.Leu822=)
c.757+4243G>A (n.757+4243G>A)
c.4233G>A (p.Leu1411=)
c.1661G>A
c.3096G>A (p.Leu1032=)
c.2523G>A (p.Leu841=)
c.2469G>A (p.Leu823=)
c.718+4243G>A (n.718+4243G>A)
c.2445G>A (p.Leu815=)
c.755+4243G>A
c.2070G>A (p.Leu690=)
n.833+4243G>A
c.4203G>A (p.Leu1401=)
c.4245G>A (p.Leu1415=)
c.4224G>A (p.Leu1408=)
c.4218G>A (p.Leu1406=)
c.4197G>A (p.Leu1399=)
c.3108G>A (p.Leu1036=)
c.4206G>A (p.Leu1402=)
n.834+4243G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70486061A>CCA381683392SHANK2c.2465T>G (p.Leu822Trp)
c.757+4242T>G (n.757+4242T>G)
c.4232T>G (p.Leu1411Trp)
c.1660T>G
c.3095T>G (p.Leu1032Trp)
c.2522T>G (p.Leu841Trp)
c.2468T>G (p.Leu823Trp)
c.718+4242T>G (n.718+4242T>G)
c.2444T>G (p.Leu815Trp)
c.755+4242T>G
c.2069T>G (p.Leu690Trp)
n.833+4242T>G
c.4202T>G (p.Leu1401Trp)
c.4244T>G (p.Leu1415Trp)
c.4223T>G (p.Leu1408Trp)
c.4217T>G (p.Leu1406Trp)
c.4196T>G (p.Leu1399Trp)
c.3107T>G (p.Leu1036Trp)
c.4205T>G (p.Leu1402Trp)
n.834+4242T>G
11g.70486061A>GCA381683393SHANK2c.2465T>C (p.Leu822Ser)
c.757+4242T>C (n.757+4242T>C)
c.4232T>C (p.Leu1411Ser)
c.1660T>C
c.3095T>C (p.Leu1032Ser)
c.2522T>C (p.Leu841Ser)
c.2468T>C (p.Leu823Ser)
c.718+4242T>C (n.718+4242T>C)
c.2444T>C (p.Leu815Ser)
c.755+4242T>C
c.2069T>C (p.Leu690Ser)
n.833+4242T>C
c.4202T>C (p.Leu1401Ser)
c.4244T>C (p.Leu1415Ser)
c.4223T>C (p.Leu1408Ser)
c.4217T>C (p.Leu1406Ser)
c.4196T>C (p.Leu1399Ser)
c.3107T>C (p.Leu1036Ser)
c.4205T>C (p.Leu1402Ser)
n.834+4242T>C
11g.70486061A>TCA381683397SHANK2c.2465T>A (p.Leu822Ter)
c.757+4242T>A (n.757+4242T>A)
c.4232T>A (p.Leu1411Ter)
c.1660T>A
c.3095T>A (p.Leu1032Ter)
c.2522T>A (p.Leu841Ter)
c.2468T>A (p.Leu823Ter)
c.718+4242T>A (n.718+4242T>A)
c.2444T>A (p.Leu815Ter)
c.755+4242T>A
c.2069T>A (p.Leu690Ter)
n.833+4242T>A
c.4202T>A (p.Leu1401Ter)
c.4244T>A (p.Leu1415Ter)
c.4223T>A (p.Leu1408Ter)
c.4217T>A (p.Leu1406Ter)
c.4196T>A (p.Leu1399Ter)
c.3107T>A (p.Leu1036Ter)
c.4205T>A (p.Leu1402Ter)
n.834+4242T>A
11g.70486062A=CA1981074345SHANK2c.2464T= (p.Leu822=)
c.757+4241T= (n.757+4241T=)
c.4231T= (p.Leu1411=)
c.1659T=
c.3094T= (p.Leu1032=)
c.2521T= (p.Leu841=)
c.2467T= (p.Leu823=)
c.718+4241T= (n.718+4241T=)
c.2443T= (p.Leu815=)
c.755+4241T=
c.2068T= (p.Leu690=)
n.833+4241T=
c.4201T= (p.Leu1401=)
c.4243T= (p.Leu1415=)
c.4222T= (p.Leu1408=)
c.4216T= (p.Leu1406=)
c.4195T= (p.Leu1399=)
c.3106T= (p.Leu1036=)
c.4204T= (p.Leu1402=)
n.834+4241T=
11g.70486062A>CCA381683400SHANK2c.2464T>G (p.Leu822Val)
c.757+4241T>G (n.757+4241T>G)
c.4231T>G (p.Leu1411Val)
c.1659T>G
c.3094T>G (p.Leu1032Val)
c.2521T>G (p.Leu841Val)
c.2467T>G (p.Leu823Val)
c.718+4241T>G (n.718+4241T>G)
c.2443T>G (p.Leu815Val)
c.755+4241T>G
c.2068T>G (p.Leu690Val)
n.833+4241T>G
c.4201T>G (p.Leu1401Val)
c.4243T>G (p.Leu1415Val)
c.4222T>G (p.Leu1408Val)
c.4216T>G (p.Leu1406Val)
c.4195T>G (p.Leu1399Val)
c.3106T>G (p.Leu1036Val)
c.4204T>G (p.Leu1402Val)
n.834+4241T>G
11g.70486062A>GCA6160954SHANK2c.2464T>C (p.Leu822=)
c.757+4241T>C (n.757+4241T>C)
c.4231T>C (p.Leu1411=)
c.1659T>C
c.3094T>C (p.Leu1032=)
c.2521T>C (p.Leu841=)
c.2467T>C (p.Leu823=)
c.718+4241T>C (n.718+4241T>C)
c.2443T>C (p.Leu815=)
c.755+4241T>C
c.2068T>C (p.Leu690=)
n.833+4241T>C
c.4201T>C (p.Leu1401=)
c.4243T>C (p.Leu1415=)
c.4222T>C (p.Leu1408=)
c.4216T>C (p.Leu1406=)
c.4195T>C (p.Leu1399=)
c.3106T>C (p.Leu1036=)
c.4204T>C (p.Leu1402=)
n.834+4241T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70486062A>TCA381683404SHANK2c.2464T>A (p.Leu822Met)
c.757+4241T>A (n.757+4241T>A)
c.4231T>A (p.Leu1411Met)
c.1659T>A
c.3094T>A (p.Leu1032Met)
c.2521T>A (p.Leu841Met)
c.2467T>A (p.Leu823Met)
c.718+4241T>A (n.718+4241T>A)
c.2443T>A (p.Leu815Met)
c.755+4241T>A
c.2068T>A (p.Leu690Met)
n.833+4241T>A
c.4201T>A (p.Leu1401Met)
c.4243T>A (p.Leu1415Met)
c.4222T>A (p.Leu1408Met)
c.4216T>A (p.Leu1406Met)
c.4195T>A (p.Leu1399Met)
c.3106T>A (p.Leu1036Met)
c.4204T>A (p.Leu1402Met)
n.834+4241T>A
11g.70486063T>ACA475471329SHANK2c.2463A>T (p.Pro821=)
c.757+4240A>T (n.757+4240A>T)
c.4230A>T (p.Pro1410=)
c.1658A>T
c.3093A>T (p.Pro1031=)
c.2520A>T (p.Pro840=)
c.2466A>T (p.Pro822=)
c.718+4240A>T (n.718+4240A>T)
c.2442A>T (p.Pro814=)
c.755+4240A>T
c.2067A>T (p.Pro689=)
n.833+4240A>T
c.4200A>T (p.Pro1400=)
c.4242A>T (p.Pro1414=)
c.4221A>T (p.Pro1407=)
c.4215A>T (p.Pro1405=)
c.4194A>T (p.Pro1398=)
c.3105A>T (p.Pro1035=)
c.4203A>T (p.Pro1401=)
n.834+4240A>T
11g.70486063T>CCA475471331SHANK2c.2463A>G (p.Pro821=)
c.757+4240A>G (n.757+4240A>G)
c.4230A>G (p.Pro1410=)
c.1658A>G
c.3093A>G (p.Pro1031=)
c.2520A>G (p.Pro840=)
c.2466A>G (p.Pro822=)
c.718+4240A>G (n.718+4240A>G)
c.2442A>G (p.Pro814=)
c.755+4240A>G
c.2067A>G (p.Pro689=)
n.833+4240A>G
c.4200A>G (p.Pro1400=)
c.4242A>G (p.Pro1414=)
c.4221A>G (p.Pro1407=)
c.4215A>G (p.Pro1405=)
c.4194A>G (p.Pro1398=)
c.3105A>G (p.Pro1035=)
c.4203A>G (p.Pro1401=)
n.834+4240A>G
 dbSNP gnomAD v3 gnomAD v4
11g.70486063T>GCA475471334SHANK2c.2463A>C (p.Pro821=)
c.757+4240A>C (n.757+4240A>C)
c.4230A>C (p.Pro1410=)
c.1658A>C
c.3093A>C (p.Pro1031=)
c.2520A>C (p.Pro840=)
c.2466A>C (p.Pro822=)
c.718+4240A>C (n.718+4240A>C)
c.2442A>C (p.Pro814=)
c.755+4240A>C
c.2067A>C (p.Pro689=)
n.833+4240A>C
c.4200A>C (p.Pro1400=)
c.4242A>C (p.Pro1414=)
c.4221A>C (p.Pro1407=)
c.4215A>C (p.Pro1405=)
c.4194A>C (p.Pro1398=)
c.3105A>C (p.Pro1035=)
c.4203A>C (p.Pro1401=)
n.834+4240A>C
11g.70486063T=CA1981074351SHANK2c.2463A= (p.Pro821=)
c.757+4240A= (n.757+4240A=)
c.4230A= (p.Pro1410=)
c.1658A=
c.3093A= (p.Pro1031=)
c.2520A= (p.Pro840=)
c.2466A= (p.Pro822=)
c.718+4240A= (n.718+4240A=)
c.2442A= (p.Pro814=)
c.755+4240A=
c.2067A= (p.Pro689=)
n.833+4240A=
c.4200A= (p.Pro1400=)
c.4242A= (p.Pro1414=)
c.4221A= (p.Pro1407=)
c.4215A= (p.Pro1405=)
c.4194A= (p.Pro1398=)
c.3105A= (p.Pro1035=)
c.4203A= (p.Pro1401=)
n.834+4240A=
11g.70486064G>ACA381683409SHANK2c.2462C>T (p.Pro821Leu)
c.757+4239C>T (n.757+4239C>T)
c.4229C>T (p.Pro1410Leu)
c.1657C>T
c.3092C>T (p.Pro1031Leu)
c.2519C>T (p.Pro840Leu)
c.2465C>T (p.Pro822Leu)
c.718+4239C>T (n.718+4239C>T)
c.2441C>T (p.Pro814Leu)
c.755+4239C>T
c.2066C>T (p.Pro689Leu)
n.833+4239C>T
c.4199C>T (p.Pro1400Leu)
c.4241C>T (p.Pro1414Leu)
c.4220C>T (p.Pro1407Leu)
c.4214C>T (p.Pro1405Leu)
c.4193C>T (p.Pro1398Leu)
c.3104C>T (p.Pro1035Leu)
c.4202C>T (p.Pro1401Leu)
n.834+4239C>T
11g.70486064G>CCA381683410SHANK2c.2462C>G (p.Pro821Arg)
c.757+4239C>G (n.757+4239C>G)
c.4229C>G (p.Pro1410Arg)
c.1657C>G
c.3092C>G (p.Pro1031Arg)
c.2519C>G (p.Pro840Arg)
c.2465C>G (p.Pro822Arg)
c.718+4239C>G (n.718+4239C>G)
c.2441C>G (p.Pro814Arg)
c.755+4239C>G
c.2066C>G (p.Pro689Arg)
n.833+4239C>G
c.4199C>G (p.Pro1400Arg)
c.4241C>G (p.Pro1414Arg)
c.4220C>G (p.Pro1407Arg)
c.4214C>G (p.Pro1405Arg)
c.4193C>G (p.Pro1398Arg)
c.3104C>G (p.Pro1035Arg)
c.4202C>G (p.Pro1401Arg)
n.834+4239C>G
11g.70486064G>TCA381683408SHANK2c.2462C>A (p.Pro821Gln)
c.757+4239C>A (n.757+4239C>A)
c.4229C>A (p.Pro1410Gln)
c.1657C>A
c.3092C>A (p.Pro1031Gln)
c.2519C>A (p.Pro840Gln)
c.2465C>A (p.Pro822Gln)
c.718+4239C>A (n.718+4239C>A)
c.2441C>A (p.Pro814Gln)
c.755+4239C>A
c.2066C>A (p.Pro689Gln)
n.833+4239C>A
c.4199C>A (p.Pro1400Gln)
c.4241C>A (p.Pro1414Gln)
c.4220C>A (p.Pro1407Gln)
c.4214C>A (p.Pro1405Gln)
c.4193C>A (p.Pro1398Gln)
c.3104C>A (p.Pro1035Gln)
c.4202C>A (p.Pro1401Gln)
n.834+4239C>A
11g.70486065G>ACA381683411SHANK2c.2461C>T (p.Pro821Ser)
c.757+4238C>T (n.757+4238C>T)
c.4228C>T (p.Pro1410Ser)
c.1656C>T
c.3091C>T (p.Pro1031Ser)
c.2518C>T (p.Pro840Ser)
c.2464C>T (p.Pro822Ser)
c.718+4238C>T (n.718+4238C>T)
c.2440C>T (p.Pro814Ser)
c.755+4238C>T
c.2065C>T (p.Pro689Ser)
n.833+4238C>T
c.4198C>T (p.Pro1400Ser)
c.4240C>T (p.Pro1414Ser)
c.4219C>T (p.Pro1407Ser)
c.4213C>T (p.Pro1405Ser)
c.4192C>T (p.Pro1398Ser)
c.3103C>T (p.Pro1035Ser)
c.4201C>T (p.Pro1401Ser)
n.834+4238C>T
 ClinVar dbSNP
11g.70486065G>CCA381683419SHANK2c.2461C>G (p.Pro821Ala)
c.757+4238C>G (n.757+4238C>G)
c.4228C>G (p.Pro1410Ala)
c.1656C>G
c.3091C>G (p.Pro1031Ala)
c.2518C>G (p.Pro840Ala)
c.2464C>G (p.Pro822Ala)
c.718+4238C>G (n.718+4238C>G)
c.2440C>G (p.Pro814Ala)
c.755+4238C>G
c.2065C>G (p.Pro689Ala)
n.833+4238C>G
c.4198C>G (p.Pro1400Ala)
c.4240C>G (p.Pro1414Ala)
c.4219C>G (p.Pro1407Ala)
c.4213C>G (p.Pro1405Ala)
c.4192C>G (p.Pro1398Ala)
c.3103C>G (p.Pro1035Ala)
c.4201C>G (p.Pro1401Ala)
n.834+4238C>G
 gnomAD v4
11g.70486065G=CA1981074356SHANK2c.2461C= (p.Pro821=)
c.757+4238C= (n.757+4238C=)
c.4228C= (p.Pro1410=)
c.1656C=
c.3091C= (p.Pro1031=)
c.2518C= (p.Pro840=)
c.2464C= (p.Pro822=)
c.718+4238C= (n.718+4238C=)
c.2440C= (p.Pro814=)
c.755+4238C=
c.2065C= (p.Pro689=)
n.833+4238C=
c.4198C= (p.Pro1400=)
c.4240C= (p.Pro1414=)
c.4219C= (p.Pro1407=)
c.4213C= (p.Pro1405=)
c.4192C= (p.Pro1398=)
c.3103C= (p.Pro1035=)
c.4201C= (p.Pro1401=)
n.834+4238C=
11g.70486065G>TCA381683414SHANK2c.2461C>A (p.Pro821Thr)
c.757+4238C>A (n.757+4238C>A)
c.4228C>A (p.Pro1410Thr)
c.1656C>A
c.3091C>A (p.Pro1031Thr)
c.2518C>A (p.Pro840Thr)
c.2464C>A (p.Pro822Thr)
c.718+4238C>A (n.718+4238C>A)
c.2440C>A (p.Pro814Thr)
c.755+4238C>A
c.2065C>A (p.Pro689Thr)
n.833+4238C>A
c.4198C>A (p.Pro1400Thr)
c.4240C>A (p.Pro1414Thr)
c.4219C>A (p.Pro1407Thr)
c.4213C>A (p.Pro1405Thr)
c.4192C>A (p.Pro1398Thr)
c.3103C>A (p.Pro1035Thr)
c.4201C>A (p.Pro1401Thr)
n.834+4238C>A
11g.70486066C>ACA381683423SHANK2c.2460G>T (p.Glu820Asp)
c.757+4237G>T (n.757+4237G>T)
c.4227G>T (p.Glu1409Asp)
c.1655G>T
c.3090G>T (p.Glu1030Asp)
c.2517G>T (p.Glu839Asp)
c.2463G>T (p.Glu821Asp)
c.718+4237G>T (n.718+4237G>T)
c.2439G>T (p.Glu813Asp)
c.755+4237G>T
c.2064G>T (p.Glu688Asp)
n.833+4237G>T
c.4197G>T (p.Glu1399Asp)
c.4239G>T (p.Glu1413Asp)
c.4218G>T (p.Glu1406Asp)
c.4212G>T (p.Glu1404Asp)
c.4191G>T (p.Glu1397Asp)
c.3102G>T (p.Glu1034Asp)
c.4200G>T (p.Glu1400Asp)
n.834+4237G>T
11g.70486066C>GCA381683425SHANK2c.2460G>C (p.Glu820Asp)
c.757+4237G>C (n.757+4237G>C)
c.4227G>C (p.Glu1409Asp)
c.1655G>C
c.3090G>C (p.Glu1030Asp)
c.2517G>C (p.Glu839Asp)
c.2463G>C (p.Glu821Asp)
c.718+4237G>C (n.718+4237G>C)
c.2439G>C (p.Glu813Asp)
c.755+4237G>C
c.2064G>C (p.Glu688Asp)
n.833+4237G>C
c.4197G>C (p.Glu1399Asp)
c.4239G>C (p.Glu1413Asp)
c.4218G>C (p.Glu1406Asp)
c.4212G>C (p.Glu1404Asp)
c.4191G>C (p.Glu1397Asp)
c.3102G>C (p.Glu1034Asp)
c.4200G>C (p.Glu1400Asp)
n.834+4237G>C
11g.70486066C>TCA475471336SHANK2c.2460G>A (p.Glu820=)
c.757+4237G>A (n.757+4237G>A)
c.4227G>A (p.Glu1409=)
c.1655G>A
c.3090G>A (p.Glu1030=)
c.2517G>A (p.Glu839=)
c.2463G>A (p.Glu821=)
c.718+4237G>A (n.718+4237G>A)
c.2439G>A (p.Glu813=)
c.755+4237G>A
c.2064G>A (p.Glu688=)
n.833+4237G>A
c.4197G>A (p.Glu1399=)
c.4239G>A (p.Glu1413=)
c.4218G>A (p.Glu1406=)
c.4212G>A (p.Glu1404=)
c.4191G>A (p.Glu1397=)
c.3102G>A (p.Glu1034=)
c.4200G>A (p.Glu1400=)
n.834+4237G>A
11g.70486067T>ACA381683429SHANK2c.2459A>T (p.Glu820Val)
c.757+4236A>T (n.757+4236A>T)
c.4226A>T (p.Glu1409Val)
c.1654A>T
c.3089A>T (p.Glu1030Val)
c.2516A>T (p.Glu839Val)
c.2462A>T (p.Glu821Val)
c.718+4236A>T (n.718+4236A>T)
c.2438A>T (p.Glu813Val)
c.755+4236A>T
c.2063A>T (p.Glu688Val)
n.833+4236A>T
c.4196A>T (p.Glu1399Val)
c.4238A>T (p.Glu1413Val)
c.4217A>T (p.Glu1406Val)
c.4211A>T (p.Glu1404Val)
c.4190A>T (p.Glu1397Val)
c.3101A>T (p.Glu1034Val)
c.4199A>T (p.Glu1400Val)
n.834+4236A>T
11g.70486067T>CCA381683432SHANK2c.2459A>G (p.Glu820Gly)
c.757+4236A>G (n.757+4236A>G)
c.4226A>G (p.Glu1409Gly)
c.1654A>G
c.3089A>G (p.Glu1030Gly)
c.2516A>G (p.Glu839Gly)
c.2462A>G (p.Glu821Gly)
c.718+4236A>G (n.718+4236A>G)
c.2438A>G (p.Glu813Gly)
c.755+4236A>G
c.2063A>G (p.Glu688Gly)
n.833+4236A>G
c.4196A>G (p.Glu1399Gly)
c.4238A>G (p.Glu1413Gly)
c.4217A>G (p.Glu1406Gly)
c.4211A>G (p.Glu1404Gly)
c.4190A>G (p.Glu1397Gly)
c.3101A>G (p.Glu1034Gly)
c.4199A>G (p.Glu1400Gly)
n.834+4236A>G
11g.70486067T>GCA381683435SHANK2c.2459A>C (p.Glu820Ala)
c.757+4236A>C (n.757+4236A>C)
c.4226A>C (p.Glu1409Ala)
c.1654A>C
c.3089A>C (p.Glu1030Ala)
c.2516A>C (p.Glu839Ala)
c.2462A>C (p.Glu821Ala)
c.718+4236A>C (n.718+4236A>C)
c.2438A>C (p.Glu813Ala)
c.755+4236A>C
c.2063A>C (p.Glu688Ala)
n.833+4236A>C
c.4196A>C (p.Glu1399Ala)
c.4238A>C (p.Glu1413Ala)
c.4217A>C (p.Glu1406Ala)
c.4211A>C (p.Glu1404Ala)
c.4190A>C (p.Glu1397Ala)
c.3101A>C (p.Glu1034Ala)
c.4199A>C (p.Glu1400Ala)
n.834+4236A>C
11g.70486068C>ACA381683442SHANK2c.2458G>T (p.Glu820Ter)
c.757+4235G>T (n.757+4235G>T)
c.4225G>T (p.Glu1409Ter)
c.1653G>T
c.3088G>T (p.Glu1030Ter)
c.2515G>T (p.Glu839Ter)
c.2461G>T (p.Glu821Ter)
c.718+4235G>T (n.718+4235G>T)
c.2437G>T (p.Glu813Ter)
c.755+4235G>T
c.2062G>T (p.Glu688Ter)
n.833+4235G>T
c.4195G>T (p.Glu1399Ter)
c.4237G>T (p.Glu1413Ter)
c.4216G>T (p.Glu1406Ter)
c.4210G>T (p.Glu1404Ter)
c.4189G>T (p.Glu1397Ter)
c.3100G>T (p.Glu1034Ter)
c.4198G>T (p.Glu1400Ter)
n.834+4235G>T
11g.70486068C=CA1981074361SHANK2c.2458G= (p.Glu820=)
c.757+4235G= (n.757+4235G=)
c.4225G= (p.Glu1409=)
c.1653G=
c.3088G= (p.Glu1030=)
c.2515G= (p.Glu839=)
c.2461G= (p.Glu821=)
c.718+4235G= (n.718+4235G=)
c.2437G= (p.Glu813=)
c.755+4235G=
c.2062G= (p.Glu688=)
n.833+4235G=
c.4195G= (p.Glu1399=)
c.4237G= (p.Glu1413=)
c.4216G= (p.Glu1406=)
c.4210G= (p.Glu1404=)
c.4189G= (p.Glu1397=)
c.3100G= (p.Glu1034=)
c.4198G= (p.Glu1400=)
n.834+4235G=
11g.70486068C>GCA381683445SHANK2c.2458G>C (p.Glu820Gln)
c.757+4235G>C (n.757+4235G>C)
c.4225G>C (p.Glu1409Gln)
c.1653G>C
c.3088G>C (p.Glu1030Gln)
c.2515G>C (p.Glu839Gln)
c.2461G>C (p.Glu821Gln)
c.718+4235G>C (n.718+4235G>C)
c.2437G>C (p.Glu813Gln)
c.755+4235G>C
c.2062G>C (p.Glu688Gln)
n.833+4235G>C
c.4195G>C (p.Glu1399Gln)
c.4237G>C (p.Glu1413Gln)
c.4216G>C (p.Glu1406Gln)
c.4210G>C (p.Glu1404Gln)
c.4189G>C (p.Glu1397Gln)
c.3100G>C (p.Glu1034Gln)
c.4198G>C (p.Glu1400Gln)
n.834+4235G>C
11g.70486068C>TCA381683448SHANK2c.2458G>A (p.Glu820Lys)
c.757+4235G>A (n.757+4235G>A)
c.4225G>A (p.Glu1409Lys)
c.1653G>A
c.3088G>A (p.Glu1030Lys)
c.2515G>A (p.Glu839Lys)
c.2461G>A (p.Glu821Lys)
c.718+4235G>A (n.718+4235G>A)
c.2437G>A (p.Glu813Lys)
c.755+4235G>A
c.2062G>A (p.Glu688Lys)
n.833+4235G>A
c.4195G>A (p.Glu1399Lys)
c.4237G>A (p.Glu1413Lys)
c.4216G>A (p.Glu1406Lys)
c.4210G>A (p.Glu1404Lys)
c.4189G>A (p.Glu1397Lys)
c.3100G>A (p.Glu1034Lys)
c.4198G>A (p.Glu1400Lys)
n.834+4235G>A
 dbSNP
11g.70486069T>ACA475471339SHANK2c.2457A>T (p.Thr819=)
c.757+4234A>T (n.757+4234A>T)
c.4224A>T (p.Thr1408=)
c.1652A>T
c.3087A>T (p.Thr1029=)
c.2514A>T (p.Thr838=)
c.2460A>T (p.Thr820=)
c.718+4234A>T (n.718+4234A>T)
c.2436A>T (p.Thr812=)
c.755+4234A>T
c.2061A>T (p.Thr687=)
n.833+4234A>T
c.4194A>T (p.Thr1398=)
c.4236A>T (p.Thr1412=)
c.4215A>T (p.Thr1405=)
c.4209A>T (p.Thr1403=)
c.4188A>T (p.Thr1396=)
c.3099A>T (p.Thr1033=)
c.4197A>T (p.Thr1399=)
n.834+4234A>T
11g.70486069T>CCA475471340SHANK2c.2457A>G (p.Thr819=)
c.757+4234A>G (n.757+4234A>G)
c.4224A>G (p.Thr1408=)
c.1652A>G
c.3087A>G (p.Thr1029=)
c.2514A>G (p.Thr838=)
c.2460A>G (p.Thr820=)
c.718+4234A>G (n.718+4234A>G)
c.2436A>G (p.Thr812=)
c.755+4234A>G
c.2061A>G (p.Thr687=)
n.833+4234A>G
c.4194A>G (p.Thr1398=)
c.4236A>G (p.Thr1412=)
c.4215A>G (p.Thr1405=)
c.4209A>G (p.Thr1403=)
c.4188A>G (p.Thr1396=)
c.3099A>G (p.Thr1033=)
c.4197A>G (p.Thr1399=)
n.834+4234A>G
 gnomAD v4
11g.70486069T>GCA475471341SHANK2c.2457A>C (p.Thr819=)
c.757+4234A>C (n.757+4234A>C)
c.4224A>C (p.Thr1408=)
c.1652A>C
c.3087A>C (p.Thr1029=)
c.2514A>C (p.Thr838=)
c.2460A>C (p.Thr820=)
c.718+4234A>C (n.718+4234A>C)
c.2436A>C (p.Thr812=)
c.755+4234A>C
c.2061A>C (p.Thr687=)
n.833+4234A>C
c.4194A>C (p.Thr1398=)
c.4236A>C (p.Thr1412=)
c.4215A>C (p.Thr1405=)
c.4209A>C (p.Thr1403=)
c.4188A>C (p.Thr1396=)
c.3099A>C (p.Thr1033=)
c.4197A>C (p.Thr1399=)
n.834+4234A>C
11g.70486070G>ACA381683451SHANK2c.2456C>T (p.Thr819Ile)
c.757+4233C>T (n.757+4233C>T)
c.4223C>T (p.Thr1408Ile)
c.1651C>T
c.3086C>T (p.Thr1029Ile)
c.2513C>T (p.Thr838Ile)
c.2459C>T (p.Thr820Ile)
c.718+4233C>T (n.718+4233C>T)
c.2435C>T (p.Thr812Ile)
c.755+4233C>T
c.2060C>T (p.Thr687Ile)
n.833+4233C>T
c.4193C>T (p.Thr1398Ile)
c.4235C>T (p.Thr1412Ile)
c.4214C>T (p.Thr1405Ile)
c.4208C>T (p.Thr1403Ile)
c.4187C>T (p.Thr1396Ile)
c.3098C>T (p.Thr1033Ile)
c.4196C>T (p.Thr1399Ile)
n.834+4233C>T
11g.70486070G>CCA381683454SHANK2c.2456C>G (p.Thr819Arg)
c.757+4233C>G (n.757+4233C>G)
c.4223C>G (p.Thr1408Arg)
c.1651C>G
c.3086C>G (p.Thr1029Arg)
c.2513C>G (p.Thr838Arg)
c.2459C>G (p.Thr820Arg)
c.718+4233C>G (n.718+4233C>G)
c.2435C>G (p.Thr812Arg)
c.755+4233C>G
c.2060C>G (p.Thr687Arg)
n.833+4233C>G
c.4193C>G (p.Thr1398Arg)
c.4235C>G (p.Thr1412Arg)
c.4214C>G (p.Thr1405Arg)
c.4208C>G (p.Thr1403Arg)
c.4187C>G (p.Thr1396Arg)
c.3098C>G (p.Thr1033Arg)
c.4196C>G (p.Thr1399Arg)
n.834+4233C>G
11g.70486070G>TCA381683464SHANK2c.2456C>A (p.Thr819Lys)
c.757+4233C>A (n.757+4233C>A)
c.4223C>A (p.Thr1408Lys)
c.1651C>A
c.3086C>A (p.Thr1029Lys)
c.2513C>A (p.Thr838Lys)
c.2459C>A (p.Thr820Lys)
c.718+4233C>A (n.718+4233C>A)
c.2435C>A (p.Thr812Lys)
c.755+4233C>A
c.2060C>A (p.Thr687Lys)
n.833+4233C>A
c.4193C>A (p.Thr1398Lys)
c.4235C>A (p.Thr1412Lys)
c.4214C>A (p.Thr1405Lys)
c.4208C>A (p.Thr1403Lys)
c.4187C>A (p.Thr1396Lys)
c.3098C>A (p.Thr1033Lys)
c.4196C>A (p.Thr1399Lys)
n.834+4233C>A
11g.70486071T>ACA381683467SHANK2c.2455A>T (p.Thr819Ser)
c.757+4232A>T (n.757+4232A>T)
c.4222A>T (p.Thr1408Ser)
c.1650A>T
c.3085A>T (p.Thr1029Ser)
c.2512A>T (p.Thr838Ser)
c.2458A>T (p.Thr820Ser)
c.718+4232A>T (n.718+4232A>T)
c.2434A>T (p.Thr812Ser)
c.755+4232A>T
c.2059A>T (p.Thr687Ser)
n.833+4232A>T
c.4192A>T (p.Thr1398Ser)
c.4234A>T (p.Thr1412Ser)
c.4213A>T (p.Thr1405Ser)
c.4207A>T (p.Thr1403Ser)
c.4186A>T (p.Thr1396Ser)
c.3097A>T (p.Thr1033Ser)
c.4195A>T (p.Thr1399Ser)
n.834+4232A>T
11g.70486071T>CCA381683466SHANK2c.2455A>G (p.Thr819Ala)
c.757+4232A>G (n.757+4232A>G)
c.4222A>G (p.Thr1408Ala)
c.1650A>G
c.3085A>G (p.Thr1029Ala)
c.2512A>G (p.Thr838Ala)
c.2458A>G (p.Thr820Ala)
c.718+4232A>G (n.718+4232A>G)
c.2434A>G (p.Thr812Ala)
c.755+4232A>G
c.2059A>G (p.Thr687Ala)
n.833+4232A>G
c.4192A>G (p.Thr1398Ala)
c.4234A>G (p.Thr1412Ala)
c.4213A>G (p.Thr1405Ala)
c.4207A>G (p.Thr1403Ala)
c.4186A>G (p.Thr1396Ala)
c.3097A>G (p.Thr1033Ala)
c.4195A>G (p.Thr1399Ala)
n.834+4232A>G
 gnomAD v4
11g.70486071T>GCA381683465SHANK2c.2455A>C (p.Thr819Pro)
c.757+4232A>C (n.757+4232A>C)
c.4222A>C (p.Thr1408Pro)
c.1650A>C
c.3085A>C (p.Thr1029Pro)
c.2512A>C (p.Thr838Pro)
c.2458A>C (p.Thr820Pro)
c.718+4232A>C (n.718+4232A>C)
c.2434A>C (p.Thr812Pro)
c.755+4232A>C
c.2059A>C (p.Thr687Pro)
n.833+4232A>C
c.4192A>C (p.Thr1398Pro)
c.4234A>C (p.Thr1412Pro)
c.4213A>C (p.Thr1405Pro)
c.4207A>C (p.Thr1403Pro)
c.4186A>C (p.Thr1396Pro)
c.3097A>C (p.Thr1033Pro)
c.4195A>C (p.Thr1399Pro)
n.834+4232A>C
11g.70486072A=CA1981074366SHANK2c.2454T= (p.Phe818=)
c.757+4231T= (n.757+4231T=)
c.4221T= (p.Phe1407=)
c.1649T=
c.3084T= (p.Phe1028=)
c.2511T= (p.Phe837=)
c.2457T= (p.Phe819=)
c.718+4231T= (n.718+4231T=)
c.2433T= (p.Phe811=)
c.755+4231T=
c.2058T= (p.Phe686=)
n.833+4231T=
c.4191T= (p.Phe1397=)
c.4233T= (p.Phe1411=)
c.4212T= (p.Phe1404=)
c.4206T= (p.Phe1402=)
c.4185T= (p.Phe1395=)
c.3096T= (p.Phe1032=)
c.4194T= (p.Phe1398=)
n.834+4231T=
11g.70486072A>CCA381683469SHANK2c.2454T>G (p.Phe818Leu)
c.757+4231T>G (n.757+4231T>G)
c.4221T>G (p.Phe1407Leu)
c.1649T>G
c.3084T>G (p.Phe1028Leu)
c.2511T>G (p.Phe837Leu)
c.2457T>G (p.Phe819Leu)
c.718+4231T>G (n.718+4231T>G)
c.2433T>G (p.Phe811Leu)
c.755+4231T>G
c.2058T>G (p.Phe686Leu)
n.833+4231T>G
c.4191T>G (p.Phe1397Leu)
c.4233T>G (p.Phe1411Leu)
c.4212T>G (p.Phe1404Leu)
c.4206T>G (p.Phe1402Leu)
c.4185T>G (p.Phe1395Leu)
c.3096T>G (p.Phe1032Leu)
c.4194T>G (p.Phe1398Leu)
n.834+4231T>G
11g.70486072A>GCA475471348SHANK2c.2454T>C (p.Phe818=)
c.757+4231T>C (n.757+4231T>C)
c.4221T>C (p.Phe1407=)
c.1649T>C
c.3084T>C (p.Phe1028=)
c.2511T>C (p.Phe837=)
c.2457T>C (p.Phe819=)
c.718+4231T>C (n.718+4231T>C)
c.2433T>C (p.Phe811=)
c.755+4231T>C
c.2058T>C (p.Phe686=)
n.833+4231T>C
c.4191T>C (p.Phe1397=)
c.4233T>C (p.Phe1411=)
c.4212T>C (p.Phe1404=)
c.4206T>C (p.Phe1402=)
c.4185T>C (p.Phe1395=)
c.3096T>C (p.Phe1032=)
c.4194T>C (p.Phe1398=)
n.834+4231T>C
 dbSNP gnomAD v4
11g.70486072A>TCA381683471SHANK2c.2454T>A (p.Phe818Leu)
c.757+4231T>A (n.757+4231T>A)
c.4221T>A (p.Phe1407Leu)
c.1649T>A
c.3084T>A (p.Phe1028Leu)
c.2511T>A (p.Phe837Leu)
c.2457T>A (p.Phe819Leu)
c.718+4231T>A (n.718+4231T>A)
c.2433T>A (p.Phe811Leu)
c.755+4231T>A
c.2058T>A (p.Phe686Leu)
n.833+4231T>A
c.4191T>A (p.Phe1397Leu)
c.4233T>A (p.Phe1411Leu)
c.4212T>A (p.Phe1404Leu)
c.4206T>A (p.Phe1402Leu)
c.4185T>A (p.Phe1395Leu)
c.3096T>A (p.Phe1032Leu)
c.4194T>A (p.Phe1398Leu)
n.834+4231T>A
11g.70486076delCA2695214957SHANK2c.2454del (p.Phe818LeufsTer?)
c.757+4231del (n.757+4231del)
c.4221del (p.Phe1407LeufsTer?)
c.1649del
c.3084del (p.Phe1028LeufsTer?)
c.2511del (p.Phe837LeufsTer?)
c.2457del (p.Phe819LeufsTer?)
c.718+4231del (n.718+4231del)
c.2433del (p.Phe811LeufsTer?)
c.755+4231del
c.2058del (p.Phe686LeufsTer?)
n.833+4231del
c.4191del (p.Phe1397LeufsTer?)
c.4233del (p.Phe1411LeufsTer?)
c.4212del (p.Phe1404LeufsTer?)
c.4206del (p.Phe1402LeufsTer?)
c.4185del (p.Phe1395LeufsTer?)
c.3096del (p.Phe1032LeufsTer?)
c.4194del (p.Phe1398LeufsTer?)
n.834+4231del
11g.70486073A>CCA381683474SHANK2c.2453T>G (p.Phe818Cys)
c.757+4230T>G (n.757+4230T>G)
c.4220T>G (p.Phe1407Cys)
c.1648T>G
c.3083T>G (p.Phe1028Cys)
c.2510T>G (p.Phe837Cys)
c.2456T>G (p.Phe819Cys)
c.718+4230T>G (n.718+4230T>G)
c.2432T>G (p.Phe811Cys)
c.755+4230T>G
c.2057T>G (p.Phe686Cys)
n.833+4230T>G
c.4190T>G (p.Phe1397Cys)
c.4232T>G (p.Phe1411Cys)
c.4211T>G (p.Phe1404Cys)
c.4205T>G (p.Phe1402Cys)
c.4184T>G (p.Phe1395Cys)
c.3095T>G (p.Phe1032Cys)
c.4193T>G (p.Phe1398Cys)
n.834+4230T>G
11g.70486073A>GCA381683476SHANK2c.2453T>C (p.Phe818Ser)
c.757+4230T>C (n.757+4230T>C)
c.4220T>C (p.Phe1407Ser)
c.1648T>C
c.3083T>C (p.Phe1028Ser)
c.2510T>C (p.Phe837Ser)
c.2456T>C (p.Phe819Ser)
c.718+4230T>C (n.718+4230T>C)
c.2432T>C (p.Phe811Ser)
c.755+4230T>C
c.2057T>C (p.Phe686Ser)
n.833+4230T>C
c.4190T>C (p.Phe1397Ser)
c.4232T>C (p.Phe1411Ser)
c.4211T>C (p.Phe1404Ser)
c.4205T>C (p.Phe1402Ser)
c.4184T>C (p.Phe1395Ser)
c.3095T>C (p.Phe1032Ser)
c.4193T>C (p.Phe1398Ser)
n.834+4230T>C
11g.70486073A>TCA381683479SHANK2c.2453T>A (p.Phe818Tyr)
c.757+4230T>A (n.757+4230T>A)
c.4220T>A (p.Phe1407Tyr)
c.1648T>A
c.3083T>A (p.Phe1028Tyr)
c.2510T>A (p.Phe837Tyr)
c.2456T>A (p.Phe819Tyr)
c.718+4230T>A (n.718+4230T>A)
c.2432T>A (p.Phe811Tyr)
c.755+4230T>A
c.2057T>A (p.Phe686Tyr)
n.833+4230T>A
c.4190T>A (p.Phe1397Tyr)
c.4232T>A (p.Phe1411Tyr)
c.4211T>A (p.Phe1404Tyr)
c.4205T>A (p.Phe1402Tyr)
c.4184T>A (p.Phe1395Tyr)
c.3095T>A (p.Phe1032Tyr)
c.4193T>A (p.Phe1398Tyr)
n.834+4230T>A
11g.70486074A>CCA381683494SHANK2c.2452T>G (p.Phe818Val)
c.757+4229T>G (n.757+4229T>G)
c.4219T>G (p.Phe1407Val)
c.1647T>G
c.3082T>G (p.Phe1028Val)
c.2509T>G (p.Phe837Val)
c.2455T>G (p.Phe819Val)
c.718+4229T>G (n.718+4229T>G)
c.2431T>G (p.Phe811Val)
c.755+4229T>G
c.2056T>G (p.Phe686Val)
n.833+4229T>G
c.4189T>G (p.Phe1397Val)
c.4231T>G (p.Phe1411Val)
c.4210T>G (p.Phe1404Val)
c.4204T>G (p.Phe1402Val)
c.4183T>G (p.Phe1395Val)
c.3094T>G (p.Phe1032Val)
c.4192T>G (p.Phe1398Val)
n.834+4229T>G
11g.70486074A>GCA381683499SHANK2c.2452T>C (p.Phe818Leu)
c.757+4229T>C (n.757+4229T>C)
c.4219T>C (p.Phe1407Leu)
c.1647T>C
c.3082T>C (p.Phe1028Leu)
c.2509T>C (p.Phe837Leu)
c.2455T>C (p.Phe819Leu)
c.718+4229T>C (n.718+4229T>C)
c.2431T>C (p.Phe811Leu)
c.755+4229T>C
c.2056T>C (p.Phe686Leu)
n.833+4229T>C
c.4189T>C (p.Phe1397Leu)
c.4231T>C (p.Phe1411Leu)
c.4210T>C (p.Phe1404Leu)
c.4204T>C (p.Phe1402Leu)
c.4183T>C (p.Phe1395Leu)
c.3094T>C (p.Phe1032Leu)
c.4192T>C (p.Phe1398Leu)
n.834+4229T>C
11g.70486074A>TCA381683500SHANK2c.2452T>A (p.Phe818Ile)
c.757+4229T>A (n.757+4229T>A)
c.4219T>A (p.Phe1407Ile)
c.1647T>A
c.3082T>A (p.Phe1028Ile)
c.2509T>A (p.Phe837Ile)
c.2455T>A (p.Phe819Ile)
c.718+4229T>A (n.718+4229T>A)
c.2431T>A (p.Phe811Ile)
c.755+4229T>A
c.2056T>A (p.Phe686Ile)
n.833+4229T>A
c.4189T>A (p.Phe1397Ile)
c.4231T>A (p.Phe1411Ile)
c.4210T>A (p.Phe1404Ile)
c.4204T>A (p.Phe1402Ile)
c.4183T>A (p.Phe1395Ile)
c.3094T>A (p.Phe1032Ile)
c.4192T>A (p.Phe1398Ile)
n.834+4229T>A
11g.70486075A>CCA381683503SHANK2c.2451T>G (p.Ile817Met)
c.757+4228T>G (n.757+4228T>G)
c.4218T>G (p.Ile1406Met)
c.1646T>G
c.3081T>G (p.Ile1027Met)
c.2508T>G (p.Ile836Met)
c.2454T>G (p.Ile818Met)
c.718+4228T>G (n.718+4228T>G)
c.2430T>G (p.Ile810Met)
c.755+4228T>G
c.2055T>G (p.Ile685Met)
n.833+4228T>G
c.4188T>G (p.Ile1396Met)
c.4230T>G (p.Ile1410Met)
c.4209T>G (p.Ile1403Met)
c.4203T>G (p.Ile1401Met)
c.4182T>G (p.Ile1394Met)
c.3093T>G (p.Ile1031Met)
c.4191T>G (p.Ile1397Met)
n.834+4228T>G
11g.70486075A>GCA475471349SHANK2c.2451T>C (p.Ile817=)
c.757+4228T>C (n.757+4228T>C)
c.4218T>C (p.Ile1406=)
c.1646T>C
c.3081T>C (p.Ile1027=)
c.2508T>C (p.Ile836=)
c.2454T>C (p.Ile818=)
c.718+4228T>C (n.718+4228T>C)
c.2430T>C (p.Ile810=)
c.755+4228T>C
c.2055T>C (p.Ile685=)
n.833+4228T>C
c.4188T>C (p.Ile1396=)
c.4230T>C (p.Ile1410=)
c.4209T>C (p.Ile1403=)
c.4203T>C (p.Ile1401=)
c.4182T>C (p.Ile1394=)
c.3093T>C (p.Ile1031=)
c.4191T>C (p.Ile1397=)
n.834+4228T>C
 gnomAD v4
11g.70486075A>TCA475471350SHANK2c.2451T>A (p.Ile817=)
c.757+4228T>A (n.757+4228T>A)
c.4218T>A (p.Ile1406=)
c.1646T>A
c.3081T>A (p.Ile1027=)
c.2508T>A (p.Ile836=)
c.2454T>A (p.Ile818=)
c.718+4228T>A (n.718+4228T>A)
c.2430T>A (p.Ile810=)
c.755+4228T>A
c.2055T>A (p.Ile685=)
n.833+4228T>A
c.4188T>A (p.Ile1396=)
c.4230T>A (p.Ile1410=)
c.4209T>A (p.Ile1403=)
c.4203T>A (p.Ile1401=)
c.4182T>A (p.Ile1394=)
c.3093T>A (p.Ile1031=)
c.4191T>A (p.Ile1397=)
n.834+4228T>A
11g.70486076A=CA1981074370SHANK2c.2450T= (p.Ile817=)
c.757+4227T= (n.757+4227T=)
c.4217T= (p.Ile1406=)
c.1645T=
c.3080T= (p.Ile1027=)
c.2507T= (p.Ile836=)
c.2453T= (p.Ile818=)
c.718+4227T= (n.718+4227T=)
c.2429T= (p.Ile810=)
c.755+4227T=
c.2054T= (p.Ile685=)
n.833+4227T=
c.4187T= (p.Ile1396=)
c.4229T= (p.Ile1410=)
c.4208T= (p.Ile1403=)
c.4202T= (p.Ile1401=)
c.4181T= (p.Ile1394=)
c.3092T= (p.Ile1031=)
c.4190T= (p.Ile1397=)
n.834+4227T=
11g.70486076A>CCA381683512SHANK2c.2450T>G (p.Ile817Ser)
c.757+4227T>G (n.757+4227T>G)
c.4217T>G (p.Ile1406Ser)
c.1645T>G
c.3080T>G (p.Ile1027Ser)
c.2507T>G (p.Ile836Ser)
c.2453T>G (p.Ile818Ser)
c.718+4227T>G (n.718+4227T>G)
c.2429T>G (p.Ile810Ser)
c.755+4227T>G
c.2054T>G (p.Ile685Ser)
n.833+4227T>G
c.4187T>G (p.Ile1396Ser)
c.4229T>G (p.Ile1410Ser)
c.4208T>G (p.Ile1403Ser)
c.4202T>G (p.Ile1401Ser)
c.4181T>G (p.Ile1394Ser)
c.3092T>G (p.Ile1031Ser)
c.4190T>G (p.Ile1397Ser)
n.834+4227T>G
11g.70486076A>GCA381683515SHANK2c.2450T>C (p.Ile817Thr)
c.757+4227T>C (n.757+4227T>C)
c.4217T>C (p.Ile1406Thr)
c.1645T>C
c.3080T>C (p.Ile1027Thr)
c.2507T>C (p.Ile836Thr)
c.2453T>C (p.Ile818Thr)
c.718+4227T>C (n.718+4227T>C)
c.2429T>C (p.Ile810Thr)
c.755+4227T>C
c.2054T>C (p.Ile685Thr)
n.833+4227T>C
c.4187T>C (p.Ile1396Thr)
c.4229T>C (p.Ile1410Thr)
c.4208T>C (p.Ile1403Thr)
c.4202T>C (p.Ile1401Thr)
c.4181T>C (p.Ile1394Thr)
c.3092T>C (p.Ile1031Thr)
c.4190T>C (p.Ile1397Thr)
n.834+4227T>C
 dbSNP gnomAD v4
11g.70486076A>TCA381683517SHANK2c.2450T>A (p.Ile817Asn)
c.757+4227T>A (n.757+4227T>A)
c.4217T>A (p.Ile1406Asn)
c.1645T>A
c.3080T>A (p.Ile1027Asn)
c.2507T>A (p.Ile836Asn)
c.2453T>A (p.Ile818Asn)
c.718+4227T>A (n.718+4227T>A)
c.2429T>A (p.Ile810Asn)
c.755+4227T>A
c.2054T>A (p.Ile685Asn)
n.833+4227T>A
c.4187T>A (p.Ile1396Asn)
c.4229T>A (p.Ile1410Asn)
c.4208T>A (p.Ile1403Asn)
c.4202T>A (p.Ile1401Asn)
c.4181T>A (p.Ile1394Asn)
c.3092T>A (p.Ile1031Asn)
c.4190T>A (p.Ile1397Asn)
n.834+4227T>A
11g.70486077T>ACA381683521SHANK2c.2449A>T (p.Ile817Phe)
c.757+4226A>T (n.757+4226A>T)
c.4216A>T (p.Ile1406Phe)
c.1644A>T
c.3079A>T (p.Ile1027Phe)
c.2506A>T (p.Ile836Phe)
c.2452A>T (p.Ile818Phe)
c.718+4226A>T (n.718+4226A>T)
c.2428A>T (p.Ile810Phe)
c.755+4226A>T
c.2053A>T (p.Ile685Phe)
n.833+4226A>T
c.4186A>T (p.Ile1396Phe)
c.4228A>T (p.Ile1410Phe)
c.4207A>T (p.Ile1403Phe)
c.4201A>T (p.Ile1401Phe)
c.4180A>T (p.Ile1394Phe)
c.3091A>T (p.Ile1031Phe)
c.4189A>T (p.Ile1397Phe)
n.834+4226A>T
11g.70486077T>CCA381683520SHANK2c.2449A>G (p.Ile817Val)
c.757+4226A>G (n.757+4226A>G)
c.4216A>G (p.Ile1406Val)
c.1644A>G
c.3079A>G (p.Ile1027Val)
c.2506A>G (p.Ile836Val)
c.2452A>G (p.Ile818Val)
c.718+4226A>G (n.718+4226A>G)
c.2428A>G (p.Ile810Val)
c.755+4226A>G
c.2053A>G (p.Ile685Val)
n.833+4226A>G
c.4186A>G (p.Ile1396Val)
c.4228A>G (p.Ile1410Val)
c.4207A>G (p.Ile1403Val)
c.4201A>G (p.Ile1401Val)
c.4180A>G (p.Ile1394Val)
c.3091A>G (p.Ile1031Val)
c.4189A>G (p.Ile1397Val)
n.834+4226A>G
11g.70486077T>GCA381683519SHANK2c.2449A>C (p.Ile817Leu)
c.757+4226A>C (n.757+4226A>C)
c.4216A>C (p.Ile1406Leu)
c.1644A>C
c.3079A>C (p.Ile1027Leu)
c.2506A>C (p.Ile836Leu)
c.2452A>C (p.Ile818Leu)
c.718+4226A>C (n.718+4226A>C)
c.2428A>C (p.Ile810Leu)
c.755+4226A>C
c.2053A>C (p.Ile685Leu)
n.833+4226A>C
c.4186A>C (p.Ile1396Leu)
c.4228A>C (p.Ile1410Leu)
c.4207A>C (p.Ile1403Leu)
c.4201A>C (p.Ile1401Leu)
c.4180A>C (p.Ile1394Leu)
c.3091A>C (p.Ile1031Leu)
c.4189A>C (p.Ile1397Leu)
n.834+4226A>C
11g.70486078A=CA1981074373SHANK2c.2448T= (p.Phe816=)
c.757+4225T= (n.757+4225T=)
c.4215T= (p.Phe1405=)
c.1643T=
c.3078T= (p.Phe1026=)
c.2505T= (p.Phe835=)
c.2451T= (p.Phe817=)
c.718+4225T= (n.718+4225T=)
c.2427T= (p.Phe809=)
c.755+4225T=
c.2052T= (p.Phe684=)
n.833+4225T=
c.4185T= (p.Phe1395=)
c.4227T= (p.Phe1409=)
c.4206T= (p.Phe1402=)
c.4200T= (p.Phe1400=)
c.4179T= (p.Phe1393=)
c.3090T= (p.Phe1030=)
c.4188T= (p.Phe1396=)
n.834+4225T=
11g.70486078A>CCA381683525SHANK2c.2448T>G (p.Phe816Leu)
c.757+4225T>G (n.757+4225T>G)
c.4215T>G (p.Phe1405Leu)
c.1643T>G
c.3078T>G (p.Phe1026Leu)
c.2505T>G (p.Phe835Leu)
c.2451T>G (p.Phe817Leu)
c.718+4225T>G (n.718+4225T>G)
c.2427T>G (p.Phe809Leu)
c.755+4225T>G
c.2052T>G (p.Phe684Leu)
n.833+4225T>G
c.4185T>G (p.Phe1395Leu)
c.4227T>G (p.Phe1409Leu)
c.4206T>G (p.Phe1402Leu)
c.4200T>G (p.Phe1400Leu)
c.4179T>G (p.Phe1393Leu)
c.3090T>G (p.Phe1030Leu)
c.4188T>G (p.Phe1396Leu)
n.834+4225T>G
11g.70486078A>GCA6160955SHANK2c.2448T>C (p.Phe816=)
c.757+4225T>C (n.757+4225T>C)
c.4215T>C (p.Phe1405=)
c.1643T>C
c.3078T>C (p.Phe1026=)
c.2505T>C (p.Phe835=)
c.2451T>C (p.Phe817=)
c.718+4225T>C (n.718+4225T>C)
c.2427T>C (p.Phe809=)
c.755+4225T>C
c.2052T>C (p.Phe684=)
n.833+4225T>C
c.4185T>C (p.Phe1395=)
c.4227T>C (p.Phe1409=)
c.4206T>C (p.Phe1402=)
c.4200T>C (p.Phe1400=)
c.4179T>C (p.Phe1393=)
c.3090T>C (p.Phe1030=)
c.4188T>C (p.Phe1396=)
n.834+4225T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70486078A>TCA381683522SHANK2c.2448T>A (p.Phe816Leu)
c.757+4225T>A (n.757+4225T>A)
c.4215T>A (p.Phe1405Leu)
c.1643T>A
c.3078T>A (p.Phe1026Leu)
c.2505T>A (p.Phe835Leu)
c.2451T>A (p.Phe817Leu)
c.718+4225T>A (n.718+4225T>A)
c.2427T>A (p.Phe809Leu)
c.755+4225T>A
c.2052T>A (p.Phe684Leu)
n.833+4225T>A
c.4185T>A (p.Phe1395Leu)
c.4227T>A (p.Phe1409Leu)
c.4206T>A (p.Phe1402Leu)
c.4200T>A (p.Phe1400Leu)
c.4179T>A (p.Phe1393Leu)
c.3090T>A (p.Phe1030Leu)
c.4188T>A (p.Phe1396Leu)
n.834+4225T>A
11g.70486079A>CCA381683528SHANK2c.2447T>G (p.Phe816Cys)
c.757+4224T>G (n.757+4224T>G)
c.4214T>G (p.Phe1405Cys)
c.1642T>G
c.3077T>G (p.Phe1026Cys)
c.2504T>G (p.Phe835Cys)
c.2450T>G (p.Phe817Cys)
c.718+4224T>G (n.718+4224T>G)
c.2426T>G (p.Phe809Cys)
c.755+4224T>G
c.2051T>G (p.Phe684Cys)
n.833+4224T>G
c.4184T>G (p.Phe1395Cys)
c.4226T>G (p.Phe1409Cys)
c.4205T>G (p.Phe1402Cys)
c.4199T>G (p.Phe1400Cys)
c.4178T>G (p.Phe1393Cys)
c.3089T>G (p.Phe1030Cys)
c.4187T>G (p.Phe1396Cys)
n.834+4224T>G
11g.70486079A>GCA381683532SHANK2c.2447T>C (p.Phe816Ser)
c.757+4224T>C (n.757+4224T>C)
c.4214T>C (p.Phe1405Ser)
c.1642T>C
c.3077T>C (p.Phe1026Ser)
c.2504T>C (p.Phe835Ser)
c.2450T>C (p.Phe817Ser)
c.718+4224T>C (n.718+4224T>C)
c.2426T>C (p.Phe809Ser)
c.755+4224T>C
c.2051T>C (p.Phe684Ser)
n.833+4224T>C
c.4184T>C (p.Phe1395Ser)
c.4226T>C (p.Phe1409Ser)
c.4205T>C (p.Phe1402Ser)
c.4199T>C (p.Phe1400Ser)
c.4178T>C (p.Phe1393Ser)
c.3089T>C (p.Phe1030Ser)
c.4187T>C (p.Phe1396Ser)
n.834+4224T>C
11g.70486079A>TCA381683534SHANK2c.2447T>A (p.Phe816Tyr)
c.757+4224T>A (n.757+4224T>A)
c.4214T>A (p.Phe1405Tyr)
c.1642T>A
c.3077T>A (p.Phe1026Tyr)
c.2504T>A (p.Phe835Tyr)
c.2450T>A (p.Phe817Tyr)
c.718+4224T>A (n.718+4224T>A)
c.2426T>A (p.Phe809Tyr)
c.755+4224T>A
c.2051T>A (p.Phe684Tyr)
n.833+4224T>A
c.4184T>A (p.Phe1395Tyr)
c.4226T>A (p.Phe1409Tyr)
c.4205T>A (p.Phe1402Tyr)
c.4199T>A (p.Phe1400Tyr)
c.4178T>A (p.Phe1393Tyr)
c.3089T>A (p.Phe1030Tyr)
c.4187T>A (p.Phe1396Tyr)
n.834+4224T>A
11g.70486080A>CCA381683536SHANK2c.2446T>G (p.Phe816Val)
c.757+4223T>G (n.757+4223T>G)
c.4213T>G (p.Phe1405Val)
c.1641T>G
c.3076T>G (p.Phe1026Val)
c.2503T>G (p.Phe835Val)
c.2449T>G (p.Phe817Val)
c.718+4223T>G (n.718+4223T>G)
c.2425T>G (p.Phe809Val)
c.755+4223T>G
c.2050T>G (p.Phe684Val)
n.833+4223T>G
c.4183T>G (p.Phe1395Val)
c.4225T>G (p.Phe1409Val)
c.4204T>G (p.Phe1402Val)
c.4198T>G (p.Phe1400Val)
c.4177T>G (p.Phe1393Val)
c.3088T>G (p.Phe1030Val)
c.4186T>G (p.Phe1396Val)
n.834+4223T>G
11g.70486080A>GCA381683538SHANK2c.2446T>C (p.Phe816Leu)
c.757+4223T>C (n.757+4223T>C)
c.4213T>C (p.Phe1405Leu)
c.1641T>C
c.3076T>C (p.Phe1026Leu)
c.2503T>C (p.Phe835Leu)
c.2449T>C (p.Phe817Leu)
c.718+4223T>C (n.718+4223T>C)
c.2425T>C (p.Phe809Leu)
c.755+4223T>C
c.2050T>C (p.Phe684Leu)
n.833+4223T>C
c.4183T>C (p.Phe1395Leu)
c.4225T>C (p.Phe1409Leu)
c.4204T>C (p.Phe1402Leu)
c.4198T>C (p.Phe1400Leu)
c.4177T>C (p.Phe1393Leu)
c.3088T>C (p.Phe1030Leu)
c.4186T>C (p.Phe1396Leu)
n.834+4223T>C
11g.70486080A>TCA381683539SHANK2c.2446T>A (p.Phe816Ile)
c.757+4223T>A (n.757+4223T>A)
c.4213T>A (p.Phe1405Ile)
c.1641T>A
c.3076T>A (p.Phe1026Ile)
c.2503T>A (p.Phe835Ile)
c.2449T>A (p.Phe817Ile)
c.718+4223T>A (n.718+4223T>A)
c.2425T>A (p.Phe809Ile)
c.755+4223T>A
c.2050T>A (p.Phe684Ile)
n.833+4223T>A
c.4183T>A (p.Phe1395Ile)
c.4225T>A (p.Phe1409Ile)
c.4204T>A (p.Phe1402Ile)
c.4198T>A (p.Phe1400Ile)
c.4177T>A (p.Phe1393Ile)
c.3088T>A (p.Phe1030Ile)
c.4186T>A (p.Phe1396Ile)
n.834+4223T>A
11g.70486080_70486081insCCAAACACACCCAACACCA2792603940SHANK2c.2445_2446insGTGTTGGGTGTGTTTGG (p.Phe816ValfsTer?)
c.757+4222_757+4223insGTGTTGGGTGTGTTTGG (n.757+4222_757+4223insGTGTTGGGTGTGTTTGG)
c.4212_4213insGTGTTGGGTGTGTTTGG (p.Phe1405ValfsTer?)
c.1640_1641insGTGTTGGGTGTGTTTGG
c.3075_3076insGTGTTGGGTGTGTTTGG (p.Phe1026ValfsTer?)
c.2502_2503insGTGTTGGGTGTGTTTGG (p.Phe835ValfsTer?)
c.2448_2449insGTGTTGGGTGTGTTTGG (p.Phe817ValfsTer?)
c.718+4222_718+4223insGTGTTGGGTGTGTTTGG (n.718+4222_718+4223insGTGTTGGGTGTGTTTGG)
c.2424_2425insGTGTTGGGTGTGTTTGG (p.Phe809ValfsTer?)
c.755+4222_755+4223insGTGTTGGGTGTGTTTGG
c.2049_2050insGTGTTGGGTGTGTTTGG (p.Phe684ValfsTer?)
n.833+4222_833+4223insGTGTTGGGTGTGTTTGG
c.4182_4183insGTGTTGGGTGTGTTTGG (p.Phe1395ValfsTer?)
c.4224_4225insGTGTTGGGTGTGTTTGG (p.Phe1409ValfsTer?)
c.4203_4204insGTGTTGGGTGTGTTTGG (p.Phe1402ValfsTer?)
c.4197_4198insGTGTTGGGTGTGTTTGG (p.Phe1400ValfsTer?)
c.4176_4177insGTGTTGGGTGTGTTTGG (p.Phe1393ValfsTer?)
c.3087_3088insGTGTTGGGTGTGTTTGG (p.Phe1030ValfsTer?)
c.4185_4186insGTGTTGGGTGTGTTTGG (p.Phe1396ValfsTer?)
n.834+4222_834+4223insGTGTTGGGTGTGTTTGG
11g.70486081A=CA1981074378SHANK2c.2445T= (p.Asp815=)
c.757+4222T= (n.757+4222T=)
c.4212T= (p.Asp1404=)
c.1640T=
c.3075T= (p.Asp1025=)
c.2502T= (p.Asp834=)
c.2448T= (p.Asp816=)
c.718+4222T= (n.718+4222T=)
c.2424T= (p.Asp808=)
c.755+4222T=
c.2049T= (p.Asp683=)
n.833+4222T=
c.4182T= (p.Asp1394=)
c.4224T= (p.Asp1408=)
c.4203T= (p.Asp1401=)
c.4197T= (p.Asp1399=)
c.4176T= (p.Asp1392=)
c.3087T= (p.Asp1029=)
c.4185T= (p.Asp1395=)
n.834+4222T=
11g.70486081A>CCA381683542SHANK2c.2445T>G (p.Asp815Glu)
c.757+4222T>G (n.757+4222T>G)
c.4212T>G (p.Asp1404Glu)
c.1640T>G
c.3075T>G (p.Asp1025Glu)
c.2502T>G (p.Asp834Glu)
c.2448T>G (p.Asp816Glu)
c.718+4222T>G (n.718+4222T>G)
c.2424T>G (p.Asp808Glu)
c.755+4222T>G
c.2049T>G (p.Asp683Glu)
n.833+4222T>G
c.4182T>G (p.Asp1394Glu)
c.4224T>G (p.Asp1408Glu)
c.4203T>G (p.Asp1401Glu)
c.4197T>G (p.Asp1399Glu)
c.4176T>G (p.Asp1392Glu)
c.3087T>G (p.Asp1029Glu)
c.4185T>G (p.Asp1395Glu)
n.834+4222T>G
11g.70486081A>GCA475471358SHANK2c.2445T>C (p.Asp815=)
c.757+4222T>C (n.757+4222T>C)
c.4212T>C (p.Asp1404=)
c.1640T>C
c.3075T>C (p.Asp1025=)
c.2502T>C (p.Asp834=)
c.2448T>C (p.Asp816=)
c.718+4222T>C (n.718+4222T>C)
c.2424T>C (p.Asp808=)
c.755+4222T>C
c.2049T>C (p.Asp683=)
n.833+4222T>C
c.4182T>C (p.Asp1394=)
c.4224T>C (p.Asp1408=)
c.4203T>C (p.Asp1401=)
c.4197T>C (p.Asp1399=)
c.4176T>C (p.Asp1392=)
c.3087T>C (p.Asp1029=)
c.4185T>C (p.Asp1395=)
n.834+4222T>C
11g.70486081A>TCA6160956SHANK2c.2445T>A (p.Asp815Glu)
c.757+4222T>A (n.757+4222T>A)
c.4212T>A (p.Asp1404Glu)
c.1640T>A
c.3075T>A (p.Asp1025Glu)
c.2502T>A (p.Asp834Glu)
c.2448T>A (p.Asp816Glu)
c.718+4222T>A (n.718+4222T>A)
c.2424T>A (p.Asp808Glu)
c.755+4222T>A
c.2049T>A (p.Asp683Glu)
n.833+4222T>A
c.4182T>A (p.Asp1394Glu)
c.4224T>A (p.Asp1408Glu)
c.4203T>A (p.Asp1401Glu)
c.4197T>A (p.Asp1399Glu)
c.4176T>A (p.Asp1392Glu)
c.3087T>A (p.Asp1029Glu)
c.4185T>A (p.Asp1395Glu)
n.834+4222T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.70486082T>ACA381683547SHANK2c.2444A>T (p.Asp815Val)
c.757+4221A>T (n.757+4221A>T)
c.4211A>T (p.Asp1404Val)
c.1639A>T
c.3074A>T (p.Asp1025Val)
c.2501A>T (p.Asp834Val)
c.2447A>T (p.Asp816Val)
c.718+4221A>T (n.718+4221A>T)
c.2423A>T (p.Asp808Val)
c.755+4221A>T
c.2048A>T (p.Asp683Val)
n.833+4221A>T
c.4181A>T (p.Asp1394Val)
c.4223A>T (p.Asp1408Val)
c.4202A>T (p.Asp1401Val)
c.4196A>T (p.Asp1399Val)
c.4175A>T (p.Asp1392Val)
c.3086A>T (p.Asp1029Val)
c.4184A>T (p.Asp1395Val)
n.834+4221A>T
11g.70486082T>CCA381683549SHANK2c.2444A>G (p.Asp815Gly)
c.757+4221A>G (n.757+4221A>G)
c.4211A>G (p.Asp1404Gly)
c.1639A>G
c.3074A>G (p.Asp1025Gly)
c.2501A>G (p.Asp834Gly)
c.2447A>G (p.Asp816Gly)
c.718+4221A>G (n.718+4221A>G)
c.2423A>G (p.Asp808Gly)
c.755+4221A>G
c.2048A>G (p.Asp683Gly)
n.833+4221A>G
c.4181A>G (p.Asp1394Gly)
c.4223A>G (p.Asp1408Gly)
c.4202A>G (p.Asp1401Gly)
c.4196A>G (p.Asp1399Gly)
c.4175A>G (p.Asp1392Gly)
c.3086A>G (p.Asp1029Gly)
c.4184A>G (p.Asp1395Gly)
n.834+4221A>G
 dbSNP gnomAD v2 gnomAD v4
11g.70486082T>GCA381683552SHANK2c.2444A>C (p.Asp815Ala)
c.757+4221A>C (n.757+4221A>C)
c.4211A>C (p.Asp1404Ala)
c.1639A>C
c.3074A>C (p.Asp1025Ala)
c.2501A>C (p.Asp834Ala)
c.2447A>C (p.Asp816Ala)
c.718+4221A>C (n.718+4221A>C)
c.2423A>C (p.Asp808Ala)
c.755+4221A>C
c.2048A>C (p.Asp683Ala)
n.833+4221A>C
c.4181A>C (p.Asp1394Ala)
c.4223A>C (p.Asp1408Ala)
c.4202A>C (p.Asp1401Ala)
c.4196A>C (p.Asp1399Ala)
c.4175A>C (p.Asp1392Ala)
c.3086A>C (p.Asp1029Ala)
c.4184A>C (p.Asp1395Ala)
n.834+4221A>C
11g.70486082T=CA1981074382SHANK2c.2444A= (p.Asp815=)
c.757+4221A= (n.757+4221A=)
c.4211A= (p.Asp1404=)
c.1639A=
c.3074A= (p.Asp1025=)
c.2501A= (p.Asp834=)
c.2447A= (p.Asp816=)
c.718+4221A= (n.718+4221A=)
c.2423A= (p.Asp808=)
c.755+4221A=
c.2048A= (p.Asp683=)
n.833+4221A=
c.4181A= (p.Asp1394=)
c.4223A= (p.Asp1408=)
c.4202A= (p.Asp1401=)
c.4196A= (p.Asp1399=)
c.4175A= (p.Asp1392=)
c.3086A= (p.Asp1029=)
c.4184A= (p.Asp1395=)
n.834+4221A=
11g.70486083C>ACA381683561SHANK2c.2443G>T (p.Asp815Tyr)
c.757+4220G>T (n.757+4220G>T)
c.4210G>T (p.Asp1404Tyr)
c.1638G>T
c.3073G>T (p.Asp1025Tyr)
c.2500G>T (p.Asp834Tyr)
c.2446G>T (p.Asp816Tyr)
c.718+4220G>T (n.718+4220G>T)
c.2422G>T (p.Asp808Tyr)
c.755+4220G>T
c.2047G>T (p.Asp683Tyr)
n.833+4220G>T
c.4180G>T (p.Asp1394Tyr)
c.4222G>T (p.Asp1408Tyr)
c.4201G>T (p.Asp1401Tyr)
c.4195G>T (p.Asp1399Tyr)
c.4174G>T (p.Asp1392Tyr)
c.3085G>T (p.Asp1029Tyr)
c.4183G>T (p.Asp1395Tyr)
n.834+4220G>T
 COSMIC COSMIC COSMIC
11g.70486083C=CA1981074384SHANK2c.2443G= (p.Asp815=)
c.757+4220G= (n.757+4220G=)
c.4210G= (p.Asp1404=)
c.1638G=
c.3073G= (p.Asp1025=)
c.2500G= (p.Asp834=)
c.2446G= (p.Asp816=)
c.718+4220G= (n.718+4220G=)
c.2422G= (p.Asp808=)
c.755+4220G=
c.2047G= (p.Asp683=)
n.833+4220G=
c.4180G= (p.Asp1394=)
c.4222G= (p.Asp1408=)
c.4201G= (p.Asp1401=)
c.4195G= (p.Asp1399=)
c.4174G= (p.Asp1392=)
c.3085G= (p.Asp1029=)
c.4183G= (p.Asp1395=)
n.834+4220G=
11g.70486083C>GCA381683559SHANK2c.2443G>C (p.Asp815His)
c.757+4220G>C (n.757+4220G>C)
c.4210G>C (p.Asp1404His)
c.1638G>C
c.3073G>C (p.Asp1025His)
c.2500G>C (p.Asp834His)
c.2446G>C (p.Asp816His)
c.718+4220G>C (n.718+4220G>C)
c.2422G>C (p.Asp808His)
c.755+4220G>C
c.2047G>C (p.Asp683His)
n.833+4220G>C
c.4180G>C (p.Asp1394His)
c.4222G>C (p.Asp1408His)
c.4201G>C (p.Asp1401His)
c.4195G>C (p.Asp1399His)
c.4174G>C (p.Asp1392His)
c.3085G>C (p.Asp1029His)
c.4183G>C (p.Asp1395His)
n.834+4220G>C
11g.70486083C>TCA381683560SHANK2c.2443G>A (p.Asp815Asn)
c.757+4220G>A (n.757+4220G>A)
c.4210G>A (p.Asp1404Asn)
c.1638G>A
c.3073G>A (p.Asp1025Asn)
c.2500G>A (p.Asp834Asn)
c.2446G>A (p.Asp816Asn)
c.718+4220G>A (n.718+4220G>A)
c.2422G>A (p.Asp808Asn)
c.755+4220G>A
c.2047G>A (p.Asp683Asn)
n.833+4220G>A
c.4180G>A (p.Asp1394Asn)
c.4222G>A (p.Asp1408Asn)
c.4201G>A (p.Asp1401Asn)
c.4195G>A (p.Asp1399Asn)
c.4174G>A (p.Asp1392Asn)
c.3085G>A (p.Asp1029Asn)
c.4183G>A (p.Asp1395Asn)
n.834+4220G>A
 dbSNP gnomAD v2 gnomAD v4
11g.70486084C>ACA381683563SHANK2c.2442G>T (p.Glu814Asp)
c.757+4219G>T (n.757+4219G>T)
c.4209G>T (p.Glu1403Asp)
c.1637G>T
c.3072G>T (p.Glu1024Asp)
c.2499G>T (p.Glu833Asp)
c.2445G>T (p.Glu815Asp)
c.718+4219G>T (n.718+4219G>T)
c.2421G>T (p.Glu807Asp)
c.755+4219G>T
c.2046G>T (p.Glu682Asp)
n.833+4219G>T
c.4179G>T (p.Glu1393Asp)
c.4221G>T (p.Glu1407Asp)
c.4200G>T (p.Glu1400Asp)
c.4194G>T (p.Glu1398Asp)
c.4173G>T (p.Glu1391Asp)
c.3084G>T (p.Glu1028Asp)
c.4182G>T (p.Glu1394Asp)
n.834+4219G>T
11g.70486084C>GCA381683566SHANK2c.2442G>C (p.Glu814Asp)
c.757+4219G>C (n.757+4219G>C)
c.4209G>C (p.Glu1403Asp)
c.1637G>C
c.3072G>C (p.Glu1024Asp)
c.2499G>C (p.Glu833Asp)
c.2445G>C (p.Glu815Asp)
c.718+4219G>C (n.718+4219G>C)
c.2421G>C (p.Glu807Asp)
c.755+4219G>C
c.2046G>C (p.Glu682Asp)
n.833+4219G>C
c.4179G>C (p.Glu1393Asp)
c.4221G>C (p.Glu1407Asp)
c.4200G>C (p.Glu1400Asp)
c.4194G>C (p.Glu1398Asp)
c.4173G>C (p.Glu1391Asp)
c.3084G>C (p.Glu1028Asp)
c.4182G>C (p.Glu1394Asp)
n.834+4219G>C
11g.70486084C>TCA475471365SHANK2c.2442G>A (p.Glu814=)
c.757+4219G>A (n.757+4219G>A)
c.4209G>A (p.Glu1403=)
c.1637G>A
c.3072G>A (p.Glu1024=)
c.2499G>A (p.Glu833=)
c.2445G>A (p.Glu815=)
c.718+4219G>A (n.718+4219G>A)
c.2421G>A (p.Glu807=)
c.755+4219G>A
c.2046G>A (p.Glu682=)
n.833+4219G>A
c.4179G>A (p.Glu1393=)
c.4221G>A (p.Glu1407=)
c.4200G>A (p.Glu1400=)
c.4194G>A (p.Glu1398=)
c.4173G>A (p.Glu1391=)
c.3084G>A (p.Glu1028=)
c.4182G>A (p.Glu1394=)
n.834+4219G>A
 gnomAD v4
11g.70486085T>ACA381683569SHANK2c.2441A>T (p.Glu814Val)
c.757+4218A>T (n.757+4218A>T)
c.4208A>T (p.Glu1403Val)
c.1636A>T
c.3071A>T (p.Glu1024Val)
c.2498A>T (p.Glu833Val)
c.2444A>T (p.Glu815Val)
c.718+4218A>T (n.718+4218A>T)
c.2420A>T (p.Glu807Val)
c.755+4218A>T
c.2045A>T (p.Glu682Val)
n.833+4218A>T
c.4178A>T (p.Glu1393Val)
c.4220A>T (p.Glu1407Val)
c.4199A>T (p.Glu1400Val)
c.4193A>T (p.Glu1398Val)
c.4172A>T (p.Glu1391Val)
c.3083A>T (p.Glu1028Val)
c.4181A>T (p.Glu1394Val)
n.834+4218A>T
11g.70486085T>CCA381683572SHANK2c.2441A>G (p.Glu814Gly)
c.757+4218A>G (n.757+4218A>G)
c.4208A>G (p.Glu1403Gly)
c.1636A>G
c.3071A>G (p.Glu1024Gly)
c.2498A>G (p.Glu833Gly)
c.2444A>G (p.Glu815Gly)
c.718+4218A>G (n.718+4218A>G)
c.2420A>G (p.Glu807Gly)
c.755+4218A>G
c.2045A>G (p.Glu682Gly)
n.833+4218A>G
c.4178A>G (p.Glu1393Gly)
c.4220A>G (p.Glu1407Gly)
c.4199A>G (p.Glu1400Gly)
c.4193A>G (p.Glu1398Gly)
c.4172A>G (p.Glu1391Gly)
c.3083A>G (p.Glu1028Gly)
c.4181A>G (p.Glu1394Gly)
n.834+4218A>G
11g.70486085T>GCA381683574SHANK2c.2441A>C (p.Glu814Ala)
c.757+4218A>C (n.757+4218A>C)
c.4208A>C (p.Glu1403Ala)
c.1636A>C
c.3071A>C (p.Glu1024Ala)
c.2498A>C (p.Glu833Ala)
c.2444A>C (p.Glu815Ala)
c.718+4218A>C (n.718+4218A>C)
c.2420A>C (p.Glu807Ala)
c.755+4218A>C
c.2045A>C (p.Glu682Ala)
n.833+4218A>C
c.4178A>C (p.Glu1393Ala)
c.4220A>C (p.Glu1407Ala)
c.4199A>C (p.Glu1400Ala)
c.4193A>C (p.Glu1398Ala)
c.4172A>C (p.Glu1391Ala)
c.3083A>C (p.Glu1028Ala)
c.4181A>C (p.Glu1394Ala)
n.834+4218A>C
11g.70486086C>ACA381683584SHANK2c.2440G>T (p.Glu814Ter)
c.757+4217G>T (n.757+4217G>T)
c.4207G>T (p.Glu1403Ter)
c.1635G>T
c.3070G>T (p.Glu1024Ter)
c.2497G>T (p.Glu833Ter)
c.2443G>T (p.Glu815Ter)
c.718+4217G>T (n.718+4217G>T)
c.2419G>T (p.Glu807Ter)
c.755+4217G>T
c.2044G>T (p.Glu682Ter)
n.833+4217G>T
c.4177G>T (p.Glu1393Ter)
c.4219G>T (p.Glu1407Ter)
c.4198G>T (p.Glu1400Ter)
c.4192G>T (p.Glu1398Ter)
c.4171G>T (p.Glu1391Ter)
c.3082G>T (p.Glu1028Ter)
c.4180G>T (p.Glu1394Ter)
n.834+4217G>T
11g.70486086C>GCA381683586SHANK2c.2440G>C (p.Glu814Gln)
c.757+4217G>C (n.757+4217G>C)
c.4207G>C (p.Glu1403Gln)
c.1635G>C
c.3070G>C (p.Glu1024Gln)
c.2497G>C (p.Glu833Gln)
c.2443G>C (p.Glu815Gln)
c.718+4217G>C (n.718+4217G>C)
c.2419G>C (p.Glu807Gln)
c.755+4217G>C
c.2044G>C (p.Glu682Gln)
n.833+4217G>C
c.4177G>C (p.Glu1393Gln)
c.4219G>C (p.Glu1407Gln)
c.4198G>C (p.Glu1400Gln)
c.4192G>C (p.Glu1398Gln)
c.4171G>C (p.Glu1391Gln)
c.3082G>C (p.Glu1028Gln)
c.4180G>C (p.Glu1394Gln)
n.834+4217G>C
11g.70486086C>TCA381683587SHANK2c.2440G>A (p.Glu814Lys)
c.757+4217G>A (n.757+4217G>A)
c.4207G>A (p.Glu1403Lys)
c.1635G>A
c.3070G>A (p.Glu1024Lys)
c.2497G>A (p.Glu833Lys)
c.2443G>A (p.Glu815Lys)
c.718+4217G>A (n.718+4217G>A)
c.2419G>A (p.Glu807Lys)
c.755+4217G>A
c.2044G>A (p.Glu682Lys)
n.833+4217G>A
c.4177G>A (p.Glu1393Lys)
c.4219G>A (p.Glu1407Lys)
c.4198G>A (p.Glu1400Lys)
c.4192G>A (p.Glu1398Lys)
c.4171G>A (p.Glu1391Lys)
c.3082G>A (p.Glu1028Lys)
c.4180G>A (p.Glu1394Lys)
n.834+4217G>A
11g.70486087A=CA1981074388SHANK2c.2439T= (p.Asp813=)
c.757+4216T= (n.757+4216T=)
c.4206T= (p.Asp1402=)
c.1634T=
c.3069T= (p.Asp1023=)
c.2496T= (p.Asp832=)
c.2442T= (p.Asp814=)
c.718+4216T= (n.718+4216T=)
c.2418T= (p.Asp806=)
c.755+4216T=
c.2043T= (p.Asp681=)
n.833+4216T=
c.4176T= (p.Asp1392=)
c.4218T= (p.Asp1406=)
c.4197T= (p.Asp1399=)
c.4191T= (p.Asp1397=)
c.4170T= (p.Asp1390=)
c.3081T= (p.Asp1027=)
c.4179T= (p.Asp1393=)
n.834+4216T=
11g.70486087A>CCA381683589SHANK2c.2439T>G (p.Asp813Glu)
c.757+4216T>G (n.757+4216T>G)
c.4206T>G (p.Asp1402Glu)
c.1634T>G
c.3069T>G (p.Asp1023Glu)
c.2496T>G (p.Asp832Glu)
c.2442T>G (p.Asp814Glu)
c.718+4216T>G (n.718+4216T>G)
c.2418T>G (p.Asp806Glu)
c.755+4216T>G
c.2043T>G (p.Asp681Glu)
n.833+4216T>G
c.4176T>G (p.Asp1392Glu)
c.4218T>G (p.Asp1406Glu)
c.4197T>G (p.Asp1399Glu)
c.4191T>G (p.Asp1397Glu)
c.4170T>G (p.Asp1390Glu)
c.3081T>G (p.Asp1027Glu)
c.4179T>G (p.Asp1393Glu)
n.834+4216T>G
11g.70486087A>GCA223594128SHANK2c.2439T>C (p.Asp813=)
c.757+4216T>C (n.757+4216T>C)
c.4206T>C (p.Asp1402=)
c.1634T>C
c.3069T>C (p.Asp1023=)
c.2496T>C (p.Asp832=)
c.2442T>C (p.Asp814=)
c.718+4216T>C (n.718+4216T>C)
c.2418T>C (p.Asp806=)
c.755+4216T>C
c.2043T>C (p.Asp681=)
n.833+4216T>C
c.4176T>C (p.Asp1392=)
c.4218T>C (p.Asp1406=)
c.4197T>C (p.Asp1399=)
c.4191T>C (p.Asp1397=)
c.4170T>C (p.Asp1390=)
c.3081T>C (p.Asp1027=)
c.4179T>C (p.Asp1393=)
n.834+4216T>C
 dbSNP gnomAD v4
11g.70486087A>TCA381683592SHANK2c.2439T>A (p.Asp813Glu)
c.757+4216T>A (n.757+4216T>A)
c.4206T>A (p.Asp1402Glu)
c.1634T>A
c.3069T>A (p.Asp1023Glu)
c.2496T>A (p.Asp832Glu)
c.2442T>A (p.Asp814Glu)
c.718+4216T>A (n.718+4216T>A)
c.2418T>A (p.Asp806Glu)
c.755+4216T>A
c.2043T>A (p.Asp681Glu)
n.833+4216T>A
c.4176T>A (p.Asp1392Glu)
c.4218T>A (p.Asp1406Glu)
c.4197T>A (p.Asp1399Glu)
c.4191T>A (p.Asp1397Glu)
c.4170T>A (p.Asp1390Glu)
c.3081T>A (p.Asp1027Glu)
c.4179T>A (p.Asp1393Glu)
n.834+4216T>A
11g.70486088T>ACA381683595SHANK2c.2438A>T (p.Asp813Val)
c.757+4215A>T (n.757+4215A>T)
c.4205A>T (p.Asp1402Val)
c.1633A>T
c.3068A>T (p.Asp1023Val)
c.2495A>T (p.Asp832Val)
c.2441A>T (p.Asp814Val)
c.718+4215A>T (n.718+4215A>T)
c.2417A>T (p.Asp806Val)
c.755+4215A>T
c.2042A>T (p.Asp681Val)
n.833+4215A>T
c.4175A>T (p.Asp1392Val)
c.4217A>T (p.Asp1406Val)
c.4196A>T (p.Asp1399Val)
c.4190A>T (p.Asp1397Val)
c.4169A>T (p.Asp1390Val)
c.3080A>T (p.Asp1027Val)
c.4178A>T (p.Asp1393Val)
n.834+4215A>T
11g.70486088T>CCA381683598SHANK2c.2438A>G (p.Asp813Gly)
c.757+4215A>G (n.757+4215A>G)
c.4205A>G (p.Asp1402Gly)
c.1633A>G
c.3068A>G (p.Asp1023Gly)
c.2495A>G (p.Asp832Gly)
c.2441A>G (p.Asp814Gly)
c.718+4215A>G (n.718+4215A>G)
c.2417A>G (p.Asp806Gly)
c.755+4215A>G
c.2042A>G (p.Asp681Gly)
n.833+4215A>G
c.4175A>G (p.Asp1392Gly)
c.4217A>G (p.Asp1406Gly)
c.4196A>G (p.Asp1399Gly)
c.4190A>G (p.Asp1397Gly)
c.4169A>G (p.Asp1390Gly)
c.3080A>G (p.Asp1027Gly)
c.4178A>G (p.Asp1393Gly)
n.834+4215A>G
11g.70486088T>GCA381683601SHANK2c.2438A>C (p.Asp813Ala)
c.757+4215A>C (n.757+4215A>C)
c.4205A>C (p.Asp1402Ala)
c.1633A>C
c.3068A>C (p.Asp1023Ala)
c.2495A>C (p.Asp832Ala)
c.2441A>C (p.Asp814Ala)
c.718+4215A>C (n.718+4215A>C)
c.2417A>C (p.Asp806Ala)
c.755+4215A>C
c.2042A>C (p.Asp681Ala)
n.833+4215A>C
c.4175A>C (p.Asp1392Ala)
c.4217A>C (p.Asp1406Ala)
c.4196A>C (p.Asp1399Ala)
c.4190A>C (p.Asp1397Ala)
c.4169A>C (p.Asp1390Ala)
c.3080A>C (p.Asp1027Ala)
c.4178A>C (p.Asp1393Ala)
n.834+4215A>C
11g.70486089C>ACA381683608SHANK2c.2437G>T (p.Asp813Tyr)
c.757+4214G>T (n.757+4214G>T)
c.4204G>T (p.Asp1402Tyr)
c.1632G>T
c.3067G>T (p.Asp1023Tyr)
c.2494G>T (p.Asp832Tyr)
c.2440G>T (p.Asp814Tyr)
c.718+4214G>T (n.718+4214G>T)
c.2416G>T (p.Asp806Tyr)
c.755+4214G>T
c.2041G>T (p.Asp681Tyr)
n.833+4214G>T
c.4174G>T (p.Asp1392Tyr)
c.4216G>T (p.Asp1406Tyr)
c.4195G>T (p.Asp1399Tyr)
c.4189G>T (p.Asp1397Tyr)
c.4168G>T (p.Asp1390Tyr)
c.3079G>T (p.Asp1027Tyr)
c.4177G>T (p.Asp1393Tyr)
n.834+4214G>T
 COSMIC COSMIC COSMIC
11g.70486089C>GCA381683611SHANK2c.2437G>C (p.Asp813His)
c.757+4214G>C (n.757+4214G>C)
c.4204G>C (p.Asp1402His)
c.1632G>C
c.3067G>C (p.Asp1023His)
c.2494G>C (p.Asp832His)
c.2440G>C (p.Asp814His)
c.718+4214G>C (n.718+4214G>C)
c.2416G>C (p.Asp806His)
c.755+4214G>C
c.2041G>C (p.Asp681His)
n.833+4214G>C
c.4174G>C (p.Asp1392His)
c.4216G>C (p.Asp1406His)
c.4195G>C (p.Asp1399His)
c.4189G>C (p.Asp1397His)
c.4168G>C (p.Asp1390His)
c.3079G>C (p.Asp1027His)
c.4177G>C (p.Asp1393His)
n.834+4214G>C
11g.70486089C>TCA381683606SHANK2c.2437G>A (p.Asp813Asn)
c.757+4214G>A (n.757+4214G>A)
c.4204G>A (p.Asp1402Asn)
c.1632G>A
c.3067G>A (p.Asp1023Asn)
c.2494G>A (p.Asp832Asn)
c.2440G>A (p.Asp814Asn)
c.718+4214G>A (n.718+4214G>A)
c.2416G>A (p.Asp806Asn)
c.755+4214G>A
c.2041G>A (p.Asp681Asn)
n.833+4214G>A
c.4174G>A (p.Asp1392Asn)
c.4216G>A (p.Asp1406Asn)
c.4195G>A (p.Asp1399Asn)
c.4189G>A (p.Asp1397Asn)
c.4168G>A (p.Asp1390Asn)
c.3079G>A (p.Asp1027Asn)
c.4177G>A (p.Asp1393Asn)
n.834+4214G>A
11g.70486090C>ACA381683615SHANK2c.2436G>T (p.Leu812Phe)
c.757+4213G>T (n.757+4213G>T)
c.4203G>T (p.Leu1401Phe)
c.1631G>T
c.3066G>T (p.Leu1022Phe)
c.2493G>T (p.Leu831Phe)
c.2439G>T (p.Leu813Phe)
c.718+4213G>T (n.718+4213G>T)
c.2415G>T (p.Leu805Phe)
c.755+4213G>T
c.2040G>T (p.Leu680Phe)
n.833+4213G>T
c.4173G>T (p.Leu1391Phe)
c.4215G>T (p.Leu1405Phe)
c.4194G>T (p.Leu1398Phe)
c.4188G>T (p.Leu1396Phe)
c.4167G>T (p.Leu1389Phe)
c.3078G>T (p.Leu1026Phe)
c.4176G>T (p.Leu1392Phe)
n.834+4213G>T
11g.70486090C=CA1981074391SHANK2c.2436G= (p.Leu812=)
c.757+4213G= (n.757+4213G=)
c.4203G= (p.Leu1401=)
c.1631G=
c.3066G= (p.Leu1022=)
c.2493G= (p.Leu831=)
c.2439G= (p.Leu813=)
c.718+4213G= (n.718+4213G=)
c.2415G= (p.Leu805=)
c.755+4213G=
c.2040G= (p.Leu680=)
n.833+4213G=
c.4173G= (p.Leu1391=)
c.4215G= (p.Leu1405=)
c.4194G= (p.Leu1398=)
c.4188G= (p.Leu1396=)
c.4167G= (p.Leu1389=)
c.3078G= (p.Leu1026=)
c.4176G= (p.Leu1392=)
n.834+4213G=
11g.70486090C>GCA381683617SHANK2c.2436G>C (p.Leu812Phe)
c.757+4213G>C (n.757+4213G>C)
c.4203G>C (p.Leu1401Phe)
c.1631G>C
c.3066G>C (p.Leu1022Phe)
c.2493G>C (p.Leu831Phe)
c.2439G>C (p.Leu813Phe)
c.718+4213G>C (n.718+4213G>C)
c.2415G>C (p.Leu805Phe)
c.755+4213G>C
c.2040G>C (p.Leu680Phe)
n.833+4213G>C
c.4173G>C (p.Leu1391Phe)
c.4215G>C (p.Leu1405Phe)
c.4194G>C (p.Leu1398Phe)
c.4188G>C (p.Leu1396Phe)
c.4167G>C (p.Leu1389Phe)
c.3078G>C (p.Leu1026Phe)
c.4176G>C (p.Leu1392Phe)
n.834+4213G>C
11g.70486090C>TCA475700125SHANK2c.2436G>A (p.Leu812=)
c.757+4213G>A (n.757+4213G>A)
c.4203G>A (p.Leu1401=)
c.1631G>A
c.3066G>A (p.Leu1022=)
c.2493G>A (p.Leu831=)
c.2439G>A (p.Leu813=)
c.718+4213G>A (n.718+4213G>A)
c.2415G>A (p.Leu805=)
c.755+4213G>A
c.2040G>A (p.Leu680=)
n.833+4213G>A
c.4173G>A (p.Leu1391=)
c.4215G>A (p.Leu1405=)
c.4194G>A (p.Leu1398=)
c.4188G>A (p.Leu1396=)
c.4167G>A (p.Leu1389=)
c.3078G>A (p.Leu1026=)
c.4176G>A (p.Leu1392=)
n.834+4213G>A
 dbSNP gnomAD v4
11g.70486091A>CCA381683620SHANK2c.2435T>G (p.Leu812Trp)
c.757+4212T>G (n.757+4212T>G)
c.4202T>G (p.Leu1401Trp)
c.1630T>G
c.3065T>G (p.Leu1022Trp)
c.2492T>G (p.Leu831Trp)
c.2438T>G (p.Leu813Trp)
c.718+4212T>G (n.718+4212T>G)
c.2414T>G (p.Leu805Trp)
c.755+4212T>G
c.2039T>G (p.Leu680Trp)
n.833+4212T>G
c.4172T>G (p.Leu1391Trp)
c.4214T>G (p.Leu1405Trp)
c.4193T>G (p.Leu1398Trp)
c.4187T>G (p.Leu1396Trp)
c.4166T>G (p.Leu1389Trp)
c.3077T>G (p.Leu1026Trp)
c.4175T>G (p.Leu1392Trp)
n.834+4212T>G
 gnomAD v4
11g.70486091A>GCA381683622SHANK2c.2435T>C (p.Leu812Ser)
c.757+4212T>C (n.757+4212T>C)
c.4202T>C (p.Leu1401Ser)
c.1630T>C
c.3065T>C (p.Leu1022Ser)
c.2492T>C (p.Leu831Ser)
c.2438T>C (p.Leu813Ser)
c.718+4212T>C (n.718+4212T>C)
c.2414T>C (p.Leu805Ser)
c.755+4212T>C
c.2039T>C (p.Leu680Ser)
n.833+4212T>C
c.4172T>C (p.Leu1391Ser)
c.4214T>C (p.Leu1405Ser)
c.4193T>C (p.Leu1398Ser)
c.4187T>C (p.Leu1396Ser)
c.4166T>C (p.Leu1389Ser)
c.3077T>C (p.Leu1026Ser)
c.4175T>C (p.Leu1392Ser)
n.834+4212T>C
 gnomAD v4
11g.70486091A>TCA381683624SHANK2c.2435T>A (p.Leu812Ter)
c.757+4212T>A (n.757+4212T>A)
c.4202T>A (p.Leu1401Ter)
c.1630T>A
c.3065T>A (p.Leu1022Ter)
c.2492T>A (p.Leu831Ter)
c.2438T>A (p.Leu813Ter)
c.718+4212T>A (n.718+4212T>A)
c.2414T>A (p.Leu805Ter)
c.755+4212T>A
c.2039T>A (p.Leu680Ter)
n.833+4212T>A
c.4172T>A (p.Leu1391Ter)
c.4214T>A (p.Leu1405Ter)
c.4193T>A (p.Leu1398Ter)
c.4187T>A (p.Leu1396Ter)
c.4166T>A (p.Leu1389Ter)
c.3077T>A (p.Leu1026Ter)
c.4175T>A (p.Leu1392Ter)
n.834+4212T>A
11g.70486092A>CCA381683627SHANK2c.2434T>G (p.Leu812Val)
c.757+4211T>G (n.757+4211T>G)
c.4201T>G (p.Leu1401Val)
c.1629T>G
c.3064T>G (p.Leu1022Val)
c.2491T>G (p.Leu831Val)
c.2437T>G (p.Leu813Val)
c.718+4211T>G (n.718+4211T>G)
c.2413T>G (p.Leu805Val)
c.755+4211T>G
c.2038T>G (p.Leu680Val)
n.833+4211T>G
c.4171T>G (p.Leu1391Val)
c.4213T>G (p.Leu1405Val)
c.4192T>G (p.Leu1398Val)
c.4186T>G (p.Leu1396Val)
c.4165T>G (p.Leu1389Val)
c.3076T>G (p.Leu1026Val)
c.4174T>G (p.Leu1392Val)
n.834+4211T>G
11g.70486092A>GCA475700126SHANK2c.2434T>C (p.Leu812=)
c.757+4211T>C (n.757+4211T>C)
c.4201T>C (p.Leu1401=)
c.1629T>C
c.3064T>C (p.Leu1022=)
c.2491T>C (p.Leu831=)
c.2437T>C (p.Leu813=)
c.718+4211T>C (n.718+4211T>C)
c.2413T>C (p.Leu805=)
c.755+4211T>C
c.2038T>C (p.Leu680=)
n.833+4211T>C
c.4171T>C (p.Leu1391=)
c.4213T>C (p.Leu1405=)
c.4192T>C (p.Leu1398=)
c.4186T>C (p.Leu1396=)
c.4165T>C (p.Leu1389=)
c.3076T>C (p.Leu1026=)
c.4174T>C (p.Leu1392=)
n.834+4211T>C
 COSMIC COSMIC
11g.70486092A>TCA381683629SHANK2c.2434T>A (p.Leu812Met)
c.757+4211T>A (n.757+4211T>A)
c.4201T>A (p.Leu1401Met)
c.1629T>A
c.3064T>A (p.Leu1022Met)
c.2491T>A (p.Leu831Met)
c.2437T>A (p.Leu813Met)
c.718+4211T>A (n.718+4211T>A)
c.2413T>A (p.Leu805Met)
c.755+4211T>A
c.2038T>A (p.Leu680Met)
n.833+4211T>A
c.4171T>A (p.Leu1391Met)
c.4213T>A (p.Leu1405Met)
c.4192T>A (p.Leu1398Met)
c.4186T>A (p.Leu1396Met)
c.4165T>A (p.Leu1389Met)
c.3076T>A (p.Leu1026Met)
c.4174T>A (p.Leu1392Met)
n.834+4211T>A
11g.70486093G>ACA475700127SHANK2c.2433C>T (p.Asp811=)
c.757+4210C>T (n.757+4210C>T)
c.4200C>T (p.Asp1400=)
c.1628C>T
c.3063C>T (p.Asp1021=)
c.2490C>T (p.Asp830=)
c.2436C>T (p.Asp812=)
c.718+4210C>T (n.718+4210C>T)
c.2412C>T (p.Asp804=)
c.755+4210C>T
c.2037C>T (p.Asp679=)
n.833+4210C>T
c.4170C>T (p.Asp1390=)
c.4212C>T (p.Asp1404=)
c.4191C>T (p.Asp1397=)
c.4185C>T (p.Asp1395=)
c.4164C>T (p.Asp1388=)
c.3075C>T (p.Asp1025=)
c.4173C>T (p.Asp1391=)
n.834+4210C>T
 dbSNP gnomAD v3 gnomAD v4
11g.70486093G>CCA381683632SHANK2c.2433C>G (p.Asp811Glu)
c.757+4210C>G (n.757+4210C>G)
c.4200C>G (p.Asp1400Glu)
c.1628C>G
c.3063C>G (p.Asp1021Glu)
c.2490C>G (p.Asp830Glu)
c.2436C>G (p.Asp812Glu)
c.718+4210C>G (n.718+4210C>G)
c.2412C>G (p.Asp804Glu)
c.755+4210C>G
c.2037C>G (p.Asp679Glu)
n.833+4210C>G
c.4170C>G (p.Asp1390Glu)
c.4212C>G (p.Asp1404Glu)
c.4191C>G (p.Asp1397Glu)
c.4185C>G (p.Asp1395Glu)
c.4164C>G (p.Asp1388Glu)
c.3075C>G (p.Asp1025Glu)
c.4173C>G (p.Asp1391Glu)
n.834+4210C>G
11g.70486093G=CA1981074394SHANK2c.2433C= (p.Asp811=)
c.757+4210C= (n.757+4210C=)
c.4200C= (p.Asp1400=)
c.1628C=
c.3063C= (p.Asp1021=)
c.2490C= (p.Asp830=)
c.2436C= (p.Asp812=)
c.718+4210C= (n.718+4210C=)
c.2412C= (p.Asp804=)
c.755+4210C=
c.2037C= (p.Asp679=)
n.833+4210C=
c.4170C= (p.Asp1390=)
c.4212C= (p.Asp1404=)
c.4191C= (p.Asp1397=)
c.4185C= (p.Asp1395=)
c.4164C= (p.Asp1388=)
c.3075C= (p.Asp1025=)
c.4173C= (p.Asp1391=)
n.834+4210C=
11g.70486093G>TCA381683635SHANK2c.2433C>A (p.Asp811Glu)
c.757+4210C>A (n.757+4210C>A)
c.4200C>A (p.Asp1400Glu)
c.1628C>A
c.3063C>A (p.Asp1021Glu)
c.2490C>A (p.Asp830Glu)
c.2436C>A (p.Asp812Glu)
c.718+4210C>A (n.718+4210C>A)
c.2412C>A (p.Asp804Glu)
c.755+4210C>A
c.2037C>A (p.Asp679Glu)
n.833+4210C>A
c.4170C>A (p.Asp1390Glu)
c.4212C>A (p.Asp1404Glu)
c.4191C>A (p.Asp1397Glu)
c.4185C>A (p.Asp1395Glu)
c.4164C>A (p.Asp1388Glu)
c.3075C>A (p.Asp1025Glu)
c.4173C>A (p.Asp1391Glu)
n.834+4210C>A
11g.70486093_70486094delCA2792603941SHANK2c.2432_2433del (p.Asp811ValfsTer3)
c.757+4209_757+4210del (n.757+4209_757+4210del)
c.4199_4200del (p.Asp1400ValfsTer3)
c.1627_1628del
c.3062_3063del (p.Asp1021ValfsTer3)
c.2489_2490del (p.Asp830ValfsTer3)
c.2435_2436del (p.Asp812ValfsTer3)
c.718+4209_718+4210del (n.718+4209_718+4210del)
c.2411_2412del (p.Asp804ValfsTer3)
c.755+4209_755+4210del
c.2036_2037del (p.Asp679ValfsTer3)
n.833+4209_833+4210del
c.4169_4170del (p.Asp1390ValfsTer3)
c.4211_4212del (p.Asp1404ValfsTer3)
c.4190_4191del (p.Asp1397ValfsTer3)
c.4184_4185del (p.Asp1395ValfsTer3)
c.4163_4164del (p.Asp1388ValfsTer3)
c.3074_3075del (p.Asp1025ValfsTer3)
c.4172_4173del (p.Asp1391ValfsTer3)
n.834+4209_834+4210del
11g.70486094T>ACA381683639SHANK2c.2432A>T (p.Asp811Val)
c.757+4209A>T (n.757+4209A>T)
c.4199A>T (p.Asp1400Val)
c.1627A>T
c.3062A>T (p.Asp1021Val)
c.2489A>T (p.Asp830Val)
c.2435A>T (p.Asp812Val)
c.718+4209A>T (n.718+4209A>T)
c.2411A>T (p.Asp804Val)
c.755+4209A>T
c.2036A>T (p.Asp679Val)
n.833+4209A>T
c.4169A>T (p.Asp1390Val)
c.4211A>T (p.Asp1404Val)
c.4190A>T (p.Asp1397Val)
c.4184A>T (p.Asp1395Val)
c.4163A>T (p.Asp1388Val)
c.3074A>T (p.Asp1025Val)
c.4172A>T (p.Asp1391Val)
n.834+4209A>T
11g.70486094T>CCA381683643SHANK2c.2432A>G (p.Asp811Gly)
c.757+4209A>G (n.757+4209A>G)
c.4199A>G (p.Asp1400Gly)
c.1627A>G
c.3062A>G (p.Asp1021Gly)
c.2489A>G (p.Asp830Gly)
c.2435A>G (p.Asp812Gly)
c.718+4209A>G (n.718+4209A>G)
c.2411A>G (p.Asp804Gly)
c.755+4209A>G
c.2036A>G (p.Asp679Gly)
n.833+4209A>G
c.4169A>G (p.Asp1390Gly)
c.4211A>G (p.Asp1404Gly)
c.4190A>G (p.Asp1397Gly)
c.4184A>G (p.Asp1395Gly)
c.4163A>G (p.Asp1388Gly)
c.3074A>G (p.Asp1025Gly)
c.4172A>G (p.Asp1391Gly)
n.834+4209A>G
11g.70486094T>GCA381683642SHANK2c.2432A>C (p.Asp811Ala)
c.757+4209A>C (n.757+4209A>C)
c.4199A>C (p.Asp1400Ala)
c.1627A>C
c.3062A>C (p.Asp1021Ala)
c.2489A>C (p.Asp830Ala)
c.2435A>C (p.Asp812Ala)
c.718+4209A>C (n.718+4209A>C)
c.2411A>C (p.Asp804Ala)
c.755+4209A>C
c.2036A>C (p.Asp679Ala)
n.833+4209A>C
c.4169A>C (p.Asp1390Ala)
c.4211A>C (p.Asp1404Ala)
c.4190A>C (p.Asp1397Ala)
c.4184A>C (p.Asp1395Ala)
c.4163A>C (p.Asp1388Ala)
c.3074A>C (p.Asp1025Ala)
c.4172A>C (p.Asp1391Ala)
n.834+4209A>C
11g.70486095C>ACA381683645SHANK2c.2431G>T (p.Asp811Tyr)
c.757+4208G>T (n.757+4208G>T)
c.4198G>T (p.Asp1400Tyr)
c.1626G>T
c.3061G>T (p.Asp1021Tyr)
c.2488G>T (p.Asp830Tyr)
c.2434G>T (p.Asp812Tyr)
c.718+4208G>T (n.718+4208G>T)
c.2410G>T (p.Asp804Tyr)
c.755+4208G>T
c.2035G>T (p.Asp679Tyr)
n.833+4208G>T
c.4168G>T (p.Asp1390Tyr)
c.4210G>T (p.Asp1404Tyr)
c.4189G>T (p.Asp1397Tyr)
c.4183G>T (p.Asp1395Tyr)
c.4162G>T (p.Asp1388Tyr)
c.3073G>T (p.Asp1025Tyr)
c.4171G>T (p.Asp1391Tyr)
n.834+4208G>T
11g.70486095C>GCA381683647SHANK2c.2431G>C (p.Asp811His)
c.757+4208G>C (n.757+4208G>C)
c.4198G>C (p.Asp1400His)
c.1626G>C
c.3061G>C (p.Asp1021His)
c.2488G>C (p.Asp830His)
c.2434G>C (p.Asp812His)
c.718+4208G>C (n.718+4208G>C)
c.2410G>C (p.Asp804His)
c.755+4208G>C
c.2035G>C (p.Asp679His)
n.833+4208G>C
c.4168G>C (p.Asp1390His)
c.4210G>C (p.Asp1404His)
c.4189G>C (p.Asp1397His)
c.4183G>C (p.Asp1395His)
c.4162G>C (p.Asp1388His)
c.3073G>C (p.Asp1025His)
c.4171G>C (p.Asp1391His)
n.834+4208G>C
11g.70486095C>TCA381683649SHANK2c.2431G>A (p.Asp811Asn)
c.757+4208G>A (n.757+4208G>A)
c.4198G>A (p.Asp1400Asn)
c.1626G>A
c.3061G>A (p.Asp1021Asn)
c.2488G>A (p.Asp830Asn)
c.2434G>A (p.Asp812Asn)
c.718+4208G>A (n.718+4208G>A)
c.2410G>A (p.Asp804Asn)
c.755+4208G>A
c.2035G>A (p.Asp679Asn)
n.833+4208G>A
c.4168G>A (p.Asp1390Asn)
c.4210G>A (p.Asp1404Asn)
c.4189G>A (p.Asp1397Asn)
c.4183G>A (p.Asp1395Asn)
c.4162G>A (p.Asp1388Asn)
c.3073G>A (p.Asp1025Asn)
c.4171G>A (p.Asp1391Asn)
n.834+4208G>A
11g.70486095_70486096insACACCCAACACA2792603942SHANK2c.2430_2431insTGTTGGGTGT (p.Asp811CysfsTer4)
c.757+4207_757+4208insTGTTGGGTGT (n.757+4207_757+4208insTGTTGGGTGT)
c.4197_4198insTGTTGGGTGT (p.Asp1400CysfsTer4)
c.1625_1626insTGTTGGGTGT
c.3060_3061insTGTTGGGTGT (p.Asp1021CysfsTer4)
c.2487_2488insTGTTGGGTGT (p.Asp830CysfsTer4)
c.2433_2434insTGTTGGGTGT (p.Asp812CysfsTer4)
c.718+4207_718+4208insTGTTGGGTGT (n.718+4207_718+4208insTGTTGGGTGT)
c.2409_2410insTGTTGGGTGT (p.Asp804CysfsTer4)
c.755+4207_755+4208insTGTTGGGTGT
c.2034_2035insTGTTGGGTGT (p.Asp679CysfsTer4)
n.833+4207_833+4208insTGTTGGGTGT
c.4167_4168insTGTTGGGTGT (p.Asp1390CysfsTer4)
c.4209_4210insTGTTGGGTGT (p.Asp1404CysfsTer4)
c.4188_4189insTGTTGGGTGT (p.Asp1397CysfsTer4)
c.4182_4183insTGTTGGGTGT (p.Asp1395CysfsTer4)
c.4161_4162insTGTTGGGTGT (p.Asp1388CysfsTer4)
c.3072_3073insTGTTGGGTGT (p.Asp1025CysfsTer4)
c.4170_4171insTGTTGGGTGT (p.Asp1391CysfsTer4)
n.834+4207_834+4208insTGTTGGGTGT
11g.70486096C>ACA475700128SHANK2c.2430G>T (p.Val810=)
c.757+4207G>T (n.757+4207G>T)
c.4197G>T (p.Val1399=)
c.1625G>T
c.3060G>T (p.Val1020=)
c.2487G>T (p.Val829=)
c.2433G>T (p.Val811=)
c.718+4207G>T (n.718+4207G>T)
c.2409G>T (p.Val803=)
c.755+4207G>T
c.2034G>T (p.Val678=)
n.833+4207G>T
c.4167G>T (p.Val1389=)
c.4209G>T (p.Val1403=)
c.4188G>T (p.Val1396=)
c.4182G>T (p.Val1394=)
c.4161G>T (p.Val1387=)
c.3072G>T (p.Val1024=)
c.4170G>T (p.Val1390=)
n.834+4207G>T
11g.70486096C=CA1981074397SHANK2c.2430G= (p.Val810=)
c.757+4207G= (n.757+4207G=)
c.4197G= (p.Val1399=)
c.1625G=
c.3060G= (p.Val1020=)
c.2487G= (p.Val829=)
c.2433G= (p.Val811=)
c.718+4207G= (n.718+4207G=)
c.2409G= (p.Val803=)
c.755+4207G=
c.2034G= (p.Val678=)
n.833+4207G=
c.4167G= (p.Val1389=)
c.4209G= (p.Val1403=)
c.4188G= (p.Val1396=)
c.4182G= (p.Val1394=)
c.4161G= (p.Val1387=)
c.3072G= (p.Val1024=)
c.4170G= (p.Val1390=)
n.834+4207G=
11g.70486096C>GCA475700129SHANK2c.2430G>C (p.Val810=)
c.757+4207G>C (n.757+4207G>C)
c.4197G>C (p.Val1399=)
c.1625G>C
c.3060G>C (p.Val1020=)
c.2487G>C (p.Val829=)
c.2433G>C (p.Val811=)
c.718+4207G>C (n.718+4207G>C)
c.2409G>C (p.Val803=)
c.755+4207G>C
c.2034G>C (p.Val678=)
n.833+4207G>C
c.4167G>C (p.Val1389=)
c.4209G>C (p.Val1403=)
c.4188G>C (p.Val1396=)
c.4182G>C (p.Val1394=)
c.4161G>C (p.Val1387=)
c.3072G>C (p.Val1024=)
c.4170G>C (p.Val1390=)
n.834+4207G>C
11g.70486096C>TCA6160957SHANK2c.2430G>A (p.Val810=)
c.757+4207G>A (n.757+4207G>A)
c.4197G>A (p.Val1399=)
c.1625G>A
c.3060G>A (p.Val1020=)
c.2487G>A (p.Val829=)
c.2433G>A (p.Val811=)
c.718+4207G>A (n.718+4207G>A)
c.2409G>A (p.Val803=)
c.755+4207G>A
c.2034G>A (p.Val678=)
n.833+4207G>A
c.4167G>A (p.Val1389=)
c.4209G>A (p.Val1403=)
c.4188G>A (p.Val1396=)
c.4182G>A (p.Val1394=)
c.4161G>A (p.Val1387=)
c.3072G>A (p.Val1024=)
c.4170G>A (p.Val1390=)
n.834+4207G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70486097A>CCA381683654SHANK2c.2429T>G (p.Val810Gly)
c.757+4206T>G (n.757+4206T>G)
c.4196T>G (p.Val1399Gly)
c.1624T>G
c.3059T>G (p.Val1020Gly)
c.2486T>G (p.Val829Gly)
c.2432T>G (p.Val811Gly)
c.718+4206T>G (n.718+4206T>G)
c.2408T>G (p.Val803Gly)
c.755+4206T>G
c.2033T>G (p.Val678Gly)
n.833+4206T>G
c.4166T>G (p.Val1389Gly)
c.4208T>G (p.Val1403Gly)
c.4187T>G (p.Val1396Gly)
c.4181T>G (p.Val1394Gly)
c.4160T>G (p.Val1387Gly)
c.3071T>G (p.Val1024Gly)
c.4169T>G (p.Val1390Gly)
n.834+4206T>G
11g.70486097A>GCA381683659SHANK2c.2429T>C (p.Val810Ala)
c.757+4206T>C (n.757+4206T>C)
c.4196T>C (p.Val1399Ala)
c.1624T>C
c.3059T>C (p.Val1020Ala)
c.2486T>C (p.Val829Ala)
c.2432T>C (p.Val811Ala)
c.718+4206T>C (n.718+4206T>C)
c.2408T>C (p.Val803Ala)
c.755+4206T>C
c.2033T>C (p.Val678Ala)
n.833+4206T>C
c.4166T>C (p.Val1389Ala)
c.4208T>C (p.Val1403Ala)
c.4187T>C (p.Val1396Ala)
c.4181T>C (p.Val1394Ala)
c.4160T>C (p.Val1387Ala)
c.3071T>C (p.Val1024Ala)
c.4169T>C (p.Val1390Ala)
n.834+4206T>C
11g.70486097A>TCA381683657SHANK2c.2429T>A (p.Val810Glu)
c.757+4206T>A (n.757+4206T>A)
c.4196T>A (p.Val1399Glu)
c.1624T>A
c.3059T>A (p.Val1020Glu)
c.2486T>A (p.Val829Glu)
c.2432T>A (p.Val811Glu)
c.718+4206T>A (n.718+4206T>A)
c.2408T>A (p.Val803Glu)
c.755+4206T>A
c.2033T>A (p.Val678Glu)
n.833+4206T>A
c.4166T>A (p.Val1389Glu)
c.4208T>A (p.Val1403Glu)
c.4187T>A (p.Val1396Glu)
c.4181T>A (p.Val1394Glu)
c.4160T>A (p.Val1387Glu)
c.3071T>A (p.Val1024Glu)
c.4169T>A (p.Val1390Glu)
n.834+4206T>A
11g.70486098C>ACA381683663SHANK2c.2428G>T (p.Val810Leu)
c.757+4205G>T (n.757+4205G>T)
c.4195G>T (p.Val1399Leu)
c.1623G>T
c.3058G>T (p.Val1020Leu)
c.2485G>T (p.Val829Leu)
c.2431G>T (p.Val811Leu)
c.718+4205G>T (n.718+4205G>T)
c.2407G>T (p.Val803Leu)
c.755+4205G>T
c.2032G>T (p.Val678Leu)
n.833+4205G>T
c.4165G>T (p.Val1389Leu)
c.4207G>T (p.Val1403Leu)
c.4186G>T (p.Val1396Leu)
c.4180G>T (p.Val1394Leu)
c.4159G>T (p.Val1387Leu)
c.3070G>T (p.Val1024Leu)
c.4168G>T (p.Val1390Leu)
n.834+4205G>T
11g.70486098C=CA1981074402SHANK2c.2428G= (p.Val810=)
c.757+4205G= (n.757+4205G=)
c.4195G= (p.Val1399=)
c.1623G=
c.3058G= (p.Val1020=)
c.2485G= (p.Val829=)
c.2431G= (p.Val811=)
c.718+4205G= (n.718+4205G=)
c.2407G= (p.Val803=)
c.755+4205G=
c.2032G= (p.Val678=)
n.833+4205G=
c.4165G= (p.Val1389=)
c.4207G= (p.Val1403=)
c.4186G= (p.Val1396=)
c.4180G= (p.Val1394=)
c.4159G= (p.Val1387=)
c.3070G= (p.Val1024=)
c.4168G= (p.Val1390=)
n.834+4205G=
11g.70486098C>GCA381683665SHANK2c.2428G>C (p.Val810Leu)
c.757+4205G>C (n.757+4205G>C)
c.4195G>C (p.Val1399Leu)
c.1623G>C
c.3058G>C (p.Val1020Leu)
c.2485G>C (p.Val829Leu)
c.2431G>C (p.Val811Leu)
c.718+4205G>C (n.718+4205G>C)
c.2407G>C (p.Val803Leu)
c.755+4205G>C
c.2032G>C (p.Val678Leu)
n.833+4205G>C
c.4165G>C (p.Val1389Leu)
c.4207G>C (p.Val1403Leu)
c.4186G>C (p.Val1396Leu)
c.4180G>C (p.Val1394Leu)
c.4159G>C (p.Val1387Leu)
c.3070G>C (p.Val1024Leu)
c.4168G>C (p.Val1390Leu)
n.834+4205G>C
11g.70486098C>TCA214619SHANK2c.2428G>A (p.Val810Met)
c.757+4205G>A (n.757+4205G>A)
c.4195G>A (p.Val1399Met)
c.1623G>A
c.3058G>A (p.Val1020Met)
c.2485G>A (p.Val829Met)
c.2431G>A (p.Val811Met)
c.718+4205G>A (n.718+4205G>A)
c.2407G>A (p.Val803Met)
c.755+4205G>A
c.2032G>A (p.Val678Met)
n.833+4205G>A
c.4165G>A (p.Val1389Met)
c.4207G>A (p.Val1403Met)
c.4186G>A (p.Val1396Met)
c.4180G>A (p.Val1394Met)
c.4159G>A (p.Val1387Met)
c.3070G>A (p.Val1024Met)
c.4168G>A (p.Val1390Met)
n.834+4205G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.70486099G>ACA6160958SHANK2c.2427C>T (p.Ser809=)
c.757+4204C>T (n.757+4204C>T)
c.4194C>T (p.Ser1398=)
c.1622C>T
c.3057C>T (p.Ser1019=)
c.2484C>T (p.Ser828=)
c.2430C>T (p.Ser810=)
c.718+4204C>T (n.718+4204C>T)
c.2406C>T (p.Ser802=)
c.755+4204C>T
c.2031C>T (p.Ser677=)
n.833+4204C>T
c.4164C>T (p.Ser1388=)
c.4206C>T (p.Ser1402=)
c.4185C>T (p.Ser1395=)
c.4179C>T (p.Ser1393=)
c.4158C>T (p.Ser1386=)
c.3069C>T (p.Ser1023=)
c.4167C>T (p.Ser1389=)
n.834+4204C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.70486099G>CCA475700130SHANK2c.2427C>G (p.Ser809=)
c.757+4204C>G (n.757+4204C>G)
c.4194C>G (p.Ser1398=)
c.1622C>G
c.3057C>G (p.Ser1019=)
c.2484C>G (p.Ser828=)
c.2430C>G (p.Ser810=)
c.718+4204C>G (n.718+4204C>G)
c.2406C>G (p.Ser802=)
c.755+4204C>G
c.2031C>G (p.Ser677=)
n.833+4204C>G
c.4164C>G (p.Ser1388=)
c.4206C>G (p.Ser1402=)
c.4185C>G (p.Ser1395=)
c.4179C>G (p.Ser1393=)
c.4158C>G (p.Ser1386=)
c.3069C>G (p.Ser1023=)
c.4167C>G (p.Ser1389=)
n.834+4204C>G
11g.70486099G=CA1981074411SHANK2c.2427C= (p.Ser809=)
c.757+4204C= (n.757+4204C=)
c.4194C= (p.Ser1398=)
c.1622C=
c.3057C= (p.Ser1019=)
c.2484C= (p.Ser828=)
c.2430C= (p.Ser810=)
c.718+4204C= (n.718+4204C=)
c.2406C= (p.Ser802=)
c.755+4204C=
c.2031C= (p.Ser677=)
n.833+4204C=
c.4164C= (p.Ser1388=)
c.4206C= (p.Ser1402=)
c.4185C= (p.Ser1395=)
c.4179C= (p.Ser1393=)
c.4158C= (p.Ser1386=)
c.3069C= (p.Ser1023=)
c.4167C= (p.Ser1389=)
n.834+4204C=
11g.70486099G>TCA475700131SHANK2c.2427C>A (p.Ser809=)
c.757+4204C>A (n.757+4204C>A)
c.4194C>A (p.Ser1398=)
c.1622C>A
c.3057C>A (p.Ser1019=)
c.2484C>A (p.Ser828=)
c.2430C>A (p.Ser810=)
c.718+4204C>A (n.718+4204C>A)
c.2406C>A (p.Ser802=)
c.755+4204C>A
c.2031C>A (p.Ser677=)
n.833+4204C>A
c.4164C>A (p.Ser1388=)
c.4206C>A (p.Ser1402=)
c.4185C>A (p.Ser1395=)
c.4179C>A (p.Ser1393=)
c.4158C>A (p.Ser1386=)
c.3069C>A (p.Ser1023=)
c.4167C>A (p.Ser1389=)
n.834+4204C>A
11g.70486100G>ACA381683671SHANK2c.2426C>T (p.Ser809Phe)
c.757+4203C>T (n.757+4203C>T)
c.4193C>T (p.Ser1398Phe)
c.1621C>T
c.3056C>T (p.Ser1019Phe)
c.2483C>T (p.Ser828Phe)
c.2429C>T (p.Ser810Phe)
c.718+4203C>T (n.718+4203C>T)
c.2405C>T (p.Ser802Phe)
c.755+4203C>T
c.2030C>T (p.Ser677Phe)
n.833+4203C>T
c.4163C>T (p.Ser1388Phe)
c.4205C>T (p.Ser1402Phe)
c.4184C>T (p.Ser1395Phe)
c.4178C>T (p.Ser1393Phe)
c.4157C>T (p.Ser1386Phe)
c.3068C>T (p.Ser1023Phe)
c.4166C>T (p.Ser1389Phe)
n.834+4203C>T
 COSMIC COSMIC
11g.70486100G>CCA381683674SHANK2c.2426C>G (p.Ser809Cys)
c.757+4203C>G (n.757+4203C>G)
c.4193C>G (p.Ser1398Cys)
c.1621C>G
c.3056C>G (p.Ser1019Cys)
c.2483C>G (p.Ser828Cys)
c.2429C>G (p.Ser810Cys)
c.718+4203C>G (n.718+4203C>G)
c.2405C>G (p.Ser802Cys)
c.755+4203C>G
c.2030C>G (p.Ser677Cys)
n.833+4203C>G
c.4163C>G (p.Ser1388Cys)
c.4205C>G (p.Ser1402Cys)
c.4184C>G (p.Ser1395Cys)
c.4178C>G (p.Ser1393Cys)
c.4157C>G (p.Ser1386Cys)
c.3068C>G (p.Ser1023Cys)
c.4166C>G (p.Ser1389Cys)
n.834+4203C>G
11g.70486100G=CA1981074418SHANK2c.2426C= (p.Ser809=)
c.757+4203C= (n.757+4203C=)
c.4193C= (p.Ser1398=)
c.1621C=
c.3056C= (p.Ser1019=)
c.2483C= (p.Ser828=)
c.2429C= (p.Ser810=)
c.718+4203C= (n.718+4203C=)
c.2405C= (p.Ser802=)
c.755+4203C=
c.2030C= (p.Ser677=)
n.833+4203C=
c.4163C= (p.Ser1388=)
c.4205C= (p.Ser1402=)
c.4184C= (p.Ser1395=)
c.4178C= (p.Ser1393=)
c.4157C= (p.Ser1386=)
c.3068C= (p.Ser1023=)
c.4166C= (p.Ser1389=)
n.834+4203C=
11g.70486100G>TCA381683677SHANK2c.2426C>A (p.Ser809Tyr)
c.757+4203C>A (n.757+4203C>A)
c.4193C>A (p.Ser1398Tyr)
c.1621C>A
c.3056C>A (p.Ser1019Tyr)
c.2483C>A (p.Ser828Tyr)
c.2429C>A (p.Ser810Tyr)
c.718+4203C>A (n.718+4203C>A)
c.2405C>A (p.Ser802Tyr)
c.755+4203C>A
c.2030C>A (p.Ser677Tyr)
n.833+4203C>A
c.4163C>A (p.Ser1388Tyr)
c.4205C>A (p.Ser1402Tyr)
c.4184C>A (p.Ser1395Tyr)
c.4178C>A (p.Ser1393Tyr)
c.4157C>A (p.Ser1386Tyr)
c.3068C>A (p.Ser1023Tyr)
c.4166C>A (p.Ser1389Tyr)
n.834+4203C>A
 dbSNP gnomAD v3 gnomAD v4
11g.70486101A>CCA381683681SHANK2c.2425T>G (p.Ser809Ala)
c.757+4202T>G (n.757+4202T>G)
c.4192T>G (p.Ser1398Ala)
c.1620T>G
c.3055T>G (p.Ser1019Ala)
c.2482T>G (p.Ser828Ala)
c.2428T>G (p.Ser810Ala)
c.718+4202T>G (n.718+4202T>G)
c.2404T>G (p.Ser802Ala)
c.755+4202T>G
c.2029T>G (p.Ser677Ala)
n.833+4202T>G
c.4162T>G (p.Ser1388Ala)
c.4204T>G (p.Ser1402Ala)
c.4183T>G (p.Ser1395Ala)
c.4177T>G (p.Ser1393Ala)
c.4156T>G (p.Ser1386Ala)
c.3067T>G (p.Ser1023Ala)
c.4165T>G (p.Ser1389Ala)
n.834+4202T>G
11g.70486101A>GCA381683684SHANK2c.2425T>C (p.Ser809Pro)
c.757+4202T>C (n.757+4202T>C)
c.4192T>C (p.Ser1398Pro)
c.1620T>C
c.3055T>C (p.Ser1019Pro)
c.2482T>C (p.Ser828Pro)
c.2428T>C (p.Ser810Pro)
c.718+4202T>C (n.718+4202T>C)
c.2404T>C (p.Ser802Pro)
c.755+4202T>C
c.2029T>C (p.Ser677Pro)
n.833+4202T>C
c.4162T>C (p.Ser1388Pro)
c.4204T>C (p.Ser1402Pro)
c.4183T>C (p.Ser1395Pro)
c.4177T>C (p.Ser1393Pro)
c.4156T>C (p.Ser1386Pro)
c.3067T>C (p.Ser1023Pro)
c.4165T>C (p.Ser1389Pro)
n.834+4202T>C
11g.70486101A>TCA381683687SHANK2c.2425T>A (p.Ser809Thr)
c.757+4202T>A (n.757+4202T>A)
c.4192T>A (p.Ser1398Thr)
c.1620T>A
c.3055T>A (p.Ser1019Thr)
c.2482T>A (p.Ser828Thr)
c.2428T>A (p.Ser810Thr)
c.718+4202T>A (n.718+4202T>A)
c.2404T>A (p.Ser802Thr)
c.755+4202T>A
c.2029T>A (p.Ser677Thr)
n.833+4202T>A
c.4162T>A (p.Ser1388Thr)
c.4204T>A (p.Ser1402Thr)
c.4183T>A (p.Ser1395Thr)
c.4177T>A (p.Ser1393Thr)
c.4156T>A (p.Ser1386Thr)
c.3067T>A (p.Ser1023Thr)
c.4165T>A (p.Ser1389Thr)
n.834+4202T>A
11g.70486102T>ACA475700132SHANK2c.2424A>T (p.Ala808=)
c.757+4201A>T (n.757+4201A>T)
c.4191A>T (p.Ala1397=)
c.1619A>T
c.3054A>T (p.Ala1018=)
c.2481A>T (p.Ala827=)
c.2427A>T (p.Ala809=)
c.718+4201A>T (n.718+4201A>T)
c.2403A>T (p.Ala801=)
c.755+4201A>T
c.2028A>T (p.Ala676=)
n.833+4201A>T
c.4161A>T (p.Ala1387=)
c.4203A>T (p.Ala1401=)
c.4182A>T (p.Ala1394=)
c.4176A>T (p.Ala1392=)
c.4155A>T (p.Ala1385=)
c.3066A>T (p.Ala1022=)
c.4164A>T (p.Ala1388=)
n.834+4201A>T
11g.70486102T>CCA475700133SHANK2c.2424A>G (p.Ala808=)
c.757+4201A>G (n.757+4201A>G)
c.4191A>G (p.Ala1397=)
c.1619A>G
c.3054A>G (p.Ala1018=)
c.2481A>G (p.Ala827=)
c.2427A>G (p.Ala809=)
c.718+4201A>G (n.718+4201A>G)
c.2403A>G (p.Ala801=)
c.755+4201A>G
c.2028A>G (p.Ala676=)
n.833+4201A>G
c.4161A>G (p.Ala1387=)
c.4203A>G (p.Ala1401=)
c.4182A>G (p.Ala1394=)
c.4176A>G (p.Ala1392=)
c.4155A>G (p.Ala1385=)
c.3066A>G (p.Ala1022=)
c.4164A>G (p.Ala1388=)
n.834+4201A>G
11g.70486102T>GCA475700134SHANK2c.2424A>C (p.Ala808=)
c.757+4201A>C (n.757+4201A>C)
c.4191A>C (p.Ala1397=)
c.1619A>C
c.3054A>C (p.Ala1018=)
c.2481A>C (p.Ala827=)
c.2427A>C (p.Ala809=)
c.718+4201A>C (n.718+4201A>C)
c.2403A>C (p.Ala801=)
c.755+4201A>C
c.2028A>C (p.Ala676=)
n.833+4201A>C
c.4161A>C (p.Ala1387=)
c.4203A>C (p.Ala1401=)
c.4182A>C (p.Ala1394=)
c.4176A>C (p.Ala1392=)
c.4155A>C (p.Ala1385=)
c.3066A>C (p.Ala1022=)
c.4164A>C (p.Ala1388=)
n.834+4201A>C
11g.70486103G>ACA381683695SHANK2c.2423C>T (p.Ala808Val)
c.757+4200C>T (n.757+4200C>T)
c.4190C>T (p.Ala1397Val)
c.1618C>T
c.3053C>T (p.Ala1018Val)
c.2480C>T (p.Ala827Val)
c.2426C>T (p.Ala809Val)
c.718+4200C>T (n.718+4200C>T)
c.2402C>T (p.Ala801Val)
c.755+4200C>T
c.2027C>T (p.Ala676Val)
n.833+4200C>T
c.4160C>T (p.Ala1387Val)
c.4202C>T (p.Ala1401Val)
c.4181C>T (p.Ala1394Val)
c.4175C>T (p.Ala1392Val)
c.4154C>T (p.Ala1385Val)
c.3065C>T (p.Ala1022Val)
c.4163C>T (p.Ala1388Val)
n.834+4200C>T
11g.70486103G>CCA381683693SHANK2c.2423C>G (p.Ala808Gly)
c.757+4200C>G (n.757+4200C>G)
c.4190C>G (p.Ala1397Gly)
c.1618C>G
c.3053C>G (p.Ala1018Gly)
c.2480C>G (p.Ala827Gly)
c.2426C>G (p.Ala809Gly)
c.718+4200C>G (n.718+4200C>G)
c.2402C>G (p.Ala801Gly)
c.755+4200C>G
c.2027C>G (p.Ala676Gly)
n.833+4200C>G
c.4160C>G (p.Ala1387Gly)
c.4202C>G (p.Ala1401Gly)
c.4181C>G (p.Ala1394Gly)
c.4175C>G (p.Ala1392Gly)
c.4154C>G (p.Ala1385Gly)
c.3065C>G (p.Ala1022Gly)
c.4163C>G (p.Ala1388Gly)
n.834+4200C>G
11g.70486103G>TCA381683690SHANK2c.2423C>A (p.Ala808Glu)
c.757+4200C>A (n.757+4200C>A)
c.4190C>A (p.Ala1397Glu)
c.1618C>A
c.3053C>A (p.Ala1018Glu)
c.2480C>A (p.Ala827Glu)
c.2426C>A (p.Ala809Glu)
c.718+4200C>A (n.718+4200C>A)
c.2402C>A (p.Ala801Glu)
c.755+4200C>A
c.2027C>A (p.Ala676Glu)
n.833+4200C>A
c.4160C>A (p.Ala1387Glu)
c.4202C>A (p.Ala1401Glu)
c.4181C>A (p.Ala1394Glu)
c.4175C>A (p.Ala1392Glu)
c.4154C>A (p.Ala1385Glu)
c.3065C>A (p.Ala1022Glu)
c.4163C>A (p.Ala1388Glu)
n.834+4200C>A
11g.70486104C>ACA381683698SHANK2c.2422G>T (p.Ala808Ser)
c.757+4199G>T (n.757+4199G>T)
c.4189G>T (p.Ala1397Ser)
c.1617G>T
c.3052G>T (p.Ala1018Ser)
c.2479G>T (p.Ala827Ser)
c.2425G>T (p.Ala809Ser)
c.718+4199G>T (n.718+4199G>T)
c.2401G>T (p.Ala801Ser)
c.755+4199G>T
c.2026G>T (p.Ala676Ser)
n.833+4199G>T
c.4159G>T (p.Ala1387Ser)
c.4201G>T (p.Ala1401Ser)
c.4180G>T (p.Ala1394Ser)
c.4174G>T (p.Ala1392Ser)
c.4153G>T (p.Ala1385Ser)
c.3064G>T (p.Ala1022Ser)
c.4162G>T (p.Ala1388Ser)
n.834+4199G>T
11g.70486104C=CA1981074423SHANK2c.2422G= (p.Ala808=)
c.757+4199G= (n.757+4199G=)
c.4189G= (p.Ala1397=)
c.1617G=
c.3052G= (p.Ala1018=)
c.2479G= (p.Ala827=)
c.2425G= (p.Ala809=)
c.718+4199G= (n.718+4199G=)
c.2401G= (p.Ala801=)
c.755+4199G=
c.2026G= (p.Ala676=)
n.833+4199G=
c.4159G= (p.Ala1387=)
c.4201G= (p.Ala1401=)
c.4180G= (p.Ala1394=)
c.4174G= (p.Ala1392=)
c.4153G= (p.Ala1385=)
c.3064G= (p.Ala1022=)
c.4162G= (p.Ala1388=)
n.834+4199G=
11g.70486104C>GCA381683700SHANK2c.2422G>C (p.Ala808Pro)
c.757+4199G>C (n.757+4199G>C)
c.4189G>C (p.Ala1397Pro)
c.1617G>C
c.3052G>C (p.Ala1018Pro)
c.2479G>C (p.Ala827Pro)
c.2425G>C (p.Ala809Pro)
c.718+4199G>C (n.718+4199G>C)
c.2401G>C (p.Ala801Pro)
c.755+4199G>C
c.2026G>C (p.Ala676Pro)
n.833+4199G>C
c.4159G>C (p.Ala1387Pro)
c.4201G>C (p.Ala1401Pro)
c.4180G>C (p.Ala1394Pro)
c.4174G>C (p.Ala1392Pro)
c.4153G>C (p.Ala1385Pro)
c.3064G>C (p.Ala1022Pro)
c.4162G>C (p.Ala1388Pro)
n.834+4199G>C
11g.70486104C>TCA223594133SHANK2c.2422G>A (p.Ala808Thr)
c.757+4199G>A (n.757+4199G>A)
c.4189G>A (p.Ala1397Thr)
c.1617G>A
c.3052G>A (p.Ala1018Thr)
c.2479G>A (p.Ala827Thr)
c.2425G>A (p.Ala809Thr)
c.718+4199G>A (n.718+4199G>A)
c.2401G>A (p.Ala801Thr)
c.755+4199G>A
c.2026G>A (p.Ala676Thr)
n.833+4199G>A
c.4159G>A (p.Ala1387Thr)
c.4201G>A (p.Ala1401Thr)
c.4180G>A (p.Ala1394Thr)
c.4174G>A (p.Ala1392Thr)
c.4153G>A (p.Ala1385Thr)
c.3064G>A (p.Ala1022Thr)
c.4162G>A (p.Ala1388Thr)
n.834+4199G>A
 dbSNP gnomAD v4
11g.70486105C>ACA475700135SHANK2c.2421G>T (p.Leu807=)
c.757+4198G>T (n.757+4198G>T)
c.4188G>T (p.Leu1396=)
c.1616G>T
c.3051G>T (p.Leu1017=)
c.2478G>T (p.Leu826=)
c.2424G>T (p.Leu808=)
c.718+4198G>T (n.718+4198G>T)
c.2400G>T (p.Leu800=)
c.755+4198G>T
c.2025G>T (p.Leu675=)
n.833+4198G>T
c.4158G>T (p.Leu1386=)
c.4200G>T (p.Leu1400=)
c.4179G>T (p.Leu1393=)
c.4173G>T (p.Leu1391=)
c.4152G>T (p.Leu1384=)
c.3063G>T (p.Leu1021=)
c.4161G>T (p.Leu1387=)
n.834+4198G>T
11g.70486105C>GCA475700136SHANK2c.2421G>C (p.Leu807=)
c.757+4198G>C (n.757+4198G>C)
c.4188G>C (p.Leu1396=)
c.1616G>C
c.3051G>C (p.Leu1017=)
c.2478G>C (p.Leu826=)
c.2424G>C (p.Leu808=)
c.718+4198G>C (n.718+4198G>C)
c.2400G>C (p.Leu800=)
c.755+4198G>C
c.2025G>C (p.Leu675=)
n.833+4198G>C
c.4158G>C (p.Leu1386=)
c.4200G>C (p.Leu1400=)
c.4179G>C (p.Leu1393=)
c.4173G>C (p.Leu1391=)
c.4152G>C (p.Leu1384=)
c.3063G>C (p.Leu1021=)
c.4161G>C (p.Leu1387=)
n.834+4198G>C
11g.70486105C>TCA475700137SHANK2c.2421G>A (p.Leu807=)
c.757+4198G>A (n.757+4198G>A)
c.4188G>A (p.Leu1396=)
c.1616G>A
c.3051G>A (p.Leu1017=)
c.2478G>A (p.Leu826=)
c.2424G>A (p.Leu808=)
c.718+4198G>A (n.718+4198G>A)
c.2400G>A (p.Leu800=)
c.755+4198G>A
c.2025G>A (p.Leu675=)
n.833+4198G>A
c.4158G>A (p.Leu1386=)
c.4200G>A (p.Leu1400=)
c.4179G>A (p.Leu1393=)
c.4173G>A (p.Leu1391=)
c.4152G>A (p.Leu1384=)
c.3063G>A (p.Leu1021=)
c.4161G>A (p.Leu1387=)
n.834+4198G>A
11g.70486106A>CCA381683705SHANK2c.2420T>G (p.Leu807Arg)
c.757+4197T>G (n.757+4197T>G)
c.4187T>G (p.Leu1396Arg)
c.1615T>G
c.3050T>G (p.Leu1017Arg)
c.2477T>G (p.Leu826Arg)
c.2423T>G (p.Leu808Arg)
c.718+4197T>G (n.718+4197T>G)
c.2399T>G (p.Leu800Arg)
c.755+4197T>G
c.2024T>G (p.Leu675Arg)
n.833+4197T>G
c.4157T>G (p.Leu1386Arg)
c.4199T>G (p.Leu1400Arg)
c.4178T>G (p.Leu1393Arg)
c.4172T>G (p.Leu1391Arg)
c.4151T>G (p.Leu1384Arg)
c.3062T>G (p.Leu1021Arg)
c.4160T>G (p.Leu1387Arg)
n.834+4197T>G
11g.70486106A>GCA381683708SHANK2c.2420T>C (p.Leu807Pro)
c.757+4197T>C (n.757+4197T>C)
c.4187T>C (p.Leu1396Pro)
c.1615T>C
c.3050T>C (p.Leu1017Pro)
c.2477T>C (p.Leu826Pro)
c.2423T>C (p.Leu808Pro)
c.718+4197T>C (n.718+4197T>C)
c.2399T>C (p.Leu800Pro)
c.755+4197T>C
c.2024T>C (p.Leu675Pro)
n.833+4197T>C
c.4157T>C (p.Leu1386Pro)
c.4199T>C (p.Leu1400Pro)
c.4178T>C (p.Leu1393Pro)
c.4172T>C (p.Leu1391Pro)
c.4151T>C (p.Leu1384Pro)
c.3062T>C (p.Leu1021Pro)
c.4160T>C (p.Leu1387Pro)
n.834+4197T>C
 gnomAD v4
11g.70486106A>TCA381683711SHANK2c.2420T>A (p.Leu807Gln)
c.757+4197T>A (n.757+4197T>A)
c.4187T>A (p.Leu1396Gln)
c.1615T>A
c.3050T>A (p.Leu1017Gln)
c.2477T>A (p.Leu826Gln)
c.2423T>A (p.Leu808Gln)
c.718+4197T>A (n.718+4197T>A)
c.2399T>A (p.Leu800Gln)
c.755+4197T>A
c.2024T>A (p.Leu675Gln)
n.833+4197T>A
c.4157T>A (p.Leu1386Gln)
c.4199T>A (p.Leu1400Gln)
c.4178T>A (p.Leu1393Gln)
c.4172T>A (p.Leu1391Gln)
c.4151T>A (p.Leu1384Gln)
c.3062T>A (p.Leu1021Gln)
c.4160T>A (p.Leu1387Gln)
n.834+4197T>A

Number of alleles fetched