Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50720768_50720770dupCA2577768680SHANK3c.2536_2538dup (p.Gly846_Ser847insGly)
n.3120_3122dup
c.1588_1590dup (p.Gly530_Ser531insGly)
c.1078_1080dup (p.Gly360_Ser361insGly)
c.*1534_*1536dup (n.*1534_*1536dup)
c.2932_2934dup (p.Gly978_Ser979insGly)
c.2914_2916dup (p.Gly972_Ser973insGly)
 gnomAD v4
22g.50720768_50720770delCA640358968SHANK3c.2536_2538del (p.Gly846del)
n.3120_3122del
c.1588_1590del (p.Gly530del)
c.1078_1080del (p.Gly360del)
c.*1534_*1536del (n.*1534_*1536del)
c.2932_2934del (p.Gly978del)
c.2914_2916del (p.Gly972del)
 gnomAD v2 gnomAD v4
22g.50720767delCA2657583402SHANK3c.2535del (p.Gly846AlafsTer?)
n.3119del
c.1587del (p.Gly530AlafsTer?)
c.1077del (p.Gly360AlafsTer?)
c.*1533del (n.*1533del)
c.2931del (p.Gly978AlafsTer?)
c.2913del (p.Gly972AlafsTer?)
 gnomAD v4
22g.50720767C>ACA515260230SHANK3c.2535C>A (p.Gly845=)
n.3119C>A
c.1587C>A (p.Gly529=)
c.1077C>A (p.Gly359=)
c.*1533C>A (n.*1533C>A)
c.2931C>A (p.Gly977=)
c.2913C>A (p.Gly971=)
 gnomAD v4
22g.50720767C=CA2411007810SHANK3c.2535C= (p.Gly845=)
n.3119C=
c.1587C= (p.Gly529=)
c.1077C= (p.Gly359=)
c.*1533C= (n.*1533C=)
c.2931C= (p.Gly977=)
c.2913C= (p.Gly971=)
22g.50720767C>GCA515260231SHANK3c.2535C>G (p.Gly845=)
n.3119C>G
c.1587C>G (p.Gly529=)
c.1077C>G (p.Gly359=)
c.*1533C>G (n.*1533C>G)
c.2931C>G (p.Gly977=)
c.2913C>G (p.Gly971=)
 dbSNP
22g.50720767C>TCA515260232SHANK3c.2535C>T (p.Gly845=)
n.3119C>T
c.1587C>T (p.Gly529=)
c.1077C>T (p.Gly359=)
c.*1533C>T (n.*1533C>T)
c.2931C>T (p.Gly977=)
c.2913C>T (p.Gly971=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720767_50720787delinsGGCAGCA2580099958SHANK3c.2535_2555delinsGGCAG (p.Gly846AlafsTer?)
n.3119_3139delinsGGCAG
c.1587_1607delinsGGCAG (p.Gly530AlafsTer?)
c.1077_1097delinsGGCAG (p.Gly360AlafsTer?)
c.*1533_*1553delinsGGCAG (n.*1533_*1553delinsGGCAG)
c.2931_2951delinsGGCAG (p.Gly978AlafsTer?)
c.2913_2933delinsGGCAG (p.Gly972AlafsTer?)
 ClinVar dbSNP
22g.50720768G>ACA515260236SHANK3c.2536G>A (p.Gly846Ser)
n.3120G>A
c.1588G>A (p.Gly530Ser)
c.1078G>A (p.Gly360Ser)
c.*1534G>A (n.*1534G>A)
c.2932G>A (p.Gly978Ser)
c.2914G>A (p.Gly972Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720768G>CCA515260235SHANK3c.2536G>C (p.Gly846Arg)
n.3120G>C
c.1588G>C (p.Gly530Arg)
c.1078G>C (p.Gly360Arg)
c.*1534G>C (n.*1534G>C)
c.2932G>C (p.Gly978Arg)
c.2914G>C (p.Gly972Arg)
 gnomAD v4
22g.50720768G=CA2411007812SHANK3c.2536G= (p.Gly846=)
n.3120G=
c.1588G= (p.Gly530=)
c.1078G= (p.Gly360=)
c.*1534G= (n.*1534G=)
c.2932G= (p.Gly978=)
c.2914G= (p.Gly972=)
22g.50720768G>TCA515260233SHANK3c.2536G>T (p.Gly846Cys)
n.3120G>T
c.1588G>T (p.Gly530Cys)
c.1078G>T (p.Gly360Cys)
c.*1534G>T (n.*1534G>T)
c.2932G>T (p.Gly978Cys)
c.2914G>T (p.Gly972Cys)
 gnomAD v4
22g.50720768_50720771delinsGGCACA2411007811SHANK3c.2536_2539delinsGGCA (p.Gly846=)
n.3120_3123delinsGGCA
c.1588_1591delinsGGCA (p.Gly530=)
c.1078_1081delinsGGCA (p.Gly360=)
c.*1534_*1537delinsGGCA (n.*1534_*1537delinsGGCA)
c.2932_2935delinsGGCA (p.Gly978=)
c.2914_2917delinsGGCA (p.Gly972=)
22g.50720769G>ACA515260237SHANK3c.2537G>A (p.Gly846Asp)
n.3121G>A
c.1589G>A (p.Gly530Asp)
c.1079G>A (p.Gly360Asp)
c.*1535G>A (n.*1535G>A)
c.2933G>A (p.Gly978Asp)
c.2915G>A (p.Gly972Asp)
 dbSNP gnomAD v2 gnomAD v4
22g.50720769G>CCA515260238SHANK3c.2537G>C (p.Gly846Ala)
n.3121G>C
c.1589G>C (p.Gly530Ala)
c.1079G>C (p.Gly360Ala)
c.*1535G>C (n.*1535G>C)
c.2933G>C (p.Gly978Ala)
c.2915G>C (p.Gly972Ala)
 gnomAD v4
22g.50720769G=CA2411007813SHANK3c.2537G= (p.Gly846=)
n.3121G=
c.1589G= (p.Gly530=)
c.1079G= (p.Gly360=)
c.*1535G= (n.*1535G=)
c.2933G= (p.Gly978=)
c.2915G= (p.Gly972=)
22g.50720769G>TCA515260239SHANK3c.2537G>T (p.Gly846Val)
n.3121G>T
c.1589G>T (p.Gly530Val)
c.1079G>T (p.Gly360Val)
c.*1535G>T (n.*1535G>T)
c.2933G>T (p.Gly978Val)
c.2915G>T (p.Gly972Val)
 dbSNP gnomAD v3 gnomAD v4
22g.50720769_50720773delinsGCAGCCA2411007814SHANK3c.2537_2541delinsGCAGC (p.Gly846=)
n.3121_3125delinsGCAGC
c.1589_1593delinsGCAGC (p.Gly530=)
c.1079_1083delinsGCAGC (p.Gly360=)
c.*1535_*1539delinsGCAGC (n.*1535_*1539delinsGCAGC)
c.2933_2937delinsGCAGC (p.Gly978=)
c.2915_2919delinsGCAGC (p.Gly972=)
22g.50720771_50720773dupCA2657583403SHANK3c.2539_2541dup (p.Ser847_Phe848insSer)
n.3123_3125dup
c.1591_1593dup (p.Ser531_Phe532insSer)
c.1081_1083dup (p.Ser361_Phe362insSer)
c.*1537_*1539dup (n.*1537_*1539dup)
c.2935_2937dup (p.Ser979_Phe980insSer)
c.2917_2919dup (p.Ser973_Phe974insSer)
 gnomAD v4
22g.50720771_50720773delCA754092984SHANK3c.2539_2541del (p.Ser847del)
n.3123_3125del
c.1591_1593del (p.Ser531del)
c.1081_1083del (p.Ser361del)
c.*1537_*1539del (n.*1537_*1539del)
c.2935_2937del (p.Ser979del)
c.2917_2919del (p.Ser973del)
 dbSNP gnomAD v3 gnomAD v4
22g.50720770C>ACA515260240SHANK3c.2538C>A (p.Gly846=)
n.3122C>A
c.1590C>A (p.Gly530=)
c.1080C>A (p.Gly360=)
c.*1536C>A (n.*1536C>A)
c.2934C>A (p.Gly978=)
c.2916C>A (p.Gly972=)
 gnomAD v4
22g.50720770C=CA2411007815SHANK3c.2538C= (p.Gly846=)
n.3122C=
c.1590C= (p.Gly530=)
c.1080C= (p.Gly360=)
c.*1536C= (n.*1536C=)
c.2934C= (p.Gly978=)
c.2916C= (p.Gly972=)
22g.50720770C>GCA515260241SHANK3c.2538C>G (p.Gly846=)
n.3122C>G
c.1590C>G (p.Gly530=)
c.1080C>G (p.Gly360=)
c.*1536C>G (n.*1536C>G)
c.2934C>G (p.Gly978=)
c.2916C>G (p.Gly972=)
 gnomAD v4
22g.50720770C>TCA515260242SHANK3c.2538C>T (p.Gly846=)
n.3122C>T
c.1590C>T (p.Gly530=)
c.1080C>T (p.Gly360=)
c.*1536C>T (n.*1536C>T)
c.2934C>T (p.Gly978=)
c.2916C>T (p.Gly972=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720770_50720773delCA1139667200SHANK3c.2538_2541del (p.Phe848ProfsTer?)
n.3122_3125del
c.1590_1593del (p.Phe532ProfsTer?)
c.1080_1083del (p.Phe362ProfsTer?)
c.*1536_*1539del (n.*1536_*1539del)
c.2934_2937del (p.Phe980ProfsTer?)
c.2916_2919del (p.Phe974ProfsTer?)
 ClinVar dbSNP
22g.50720771A=CA2411007816SHANK3c.2539A= (p.Ser847=)
n.3123A=
c.1591A= (p.Ser531=)
c.1081A= (p.Ser361=)
c.*1537A= (n.*1537A=)
c.2935A= (p.Ser979=)
c.2917A= (p.Ser973=)
22g.50720771A>CCA515260243SHANK3c.2539A>C (p.Ser847Arg)
n.3123A>C
c.1591A>C (p.Ser531Arg)
c.1081A>C (p.Ser361Arg)
c.*1537A>C (n.*1537A>C)
c.2935A>C (p.Ser979Arg)
c.2917A>C (p.Ser973Arg)
 gnomAD v4
22g.50720771A>GCA10325940SHANK3c.2539A>G (p.Ser847Gly)
n.3123A>G
c.1591A>G (p.Ser531Gly)
c.1081A>G (p.Ser361Gly)
c.*1537A>G (n.*1537A>G)
c.2935A>G (p.Ser979Gly)
c.2917A>G (p.Ser973Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50720771A>TCA515260245SHANK3c.2539A>T (p.Ser847Cys)
n.3123A>T
c.1591A>T (p.Ser531Cys)
c.1081A>T (p.Ser361Cys)
c.*1537A>T (n.*1537A>T)
c.2935A>T (p.Ser979Cys)
c.2917A>T (p.Ser973Cys)
22g.50720772G>ACA515260246SHANK3c.2540G>A (p.Ser847Asn)
n.3124G>A
c.1592G>A (p.Ser531Asn)
c.1082G>A (p.Ser361Asn)
c.*1538G>A (n.*1538G>A)
c.2936G>A (p.Ser979Asn)
c.2918G>A (p.Ser973Asn)
 gnomAD v4
22g.50720772G>CCA515260247SHANK3c.2540G>C (p.Ser847Thr)
n.3124G>C
c.1592G>C (p.Ser531Thr)
c.1082G>C (p.Ser361Thr)
c.*1538G>C (n.*1538G>C)
c.2936G>C (p.Ser979Thr)
c.2918G>C (p.Ser973Thr)
 gnomAD v4
22g.50720772G>TCA515260248SHANK3c.2540G>T (p.Ser847Ile)
n.3124G>T
c.1592G>T (p.Ser531Ile)
c.1082G>T (p.Ser361Ile)
c.*1538G>T (n.*1538G>T)
c.2936G>T (p.Ser979Ile)
c.2918G>T (p.Ser973Ile)
 gnomAD v4
22g.50720773C>ACA515260251SHANK3c.2541C>A (p.Ser847Arg)
n.3125C>A
c.1593C>A (p.Ser531Arg)
c.1083C>A (p.Ser361Arg)
c.*1539C>A (n.*1539C>A)
c.2937C>A (p.Ser979Arg)
c.2919C>A (p.Ser973Arg)
 gnomAD v4
22g.50720773C=CA2411007817SHANK3c.2541C= (p.Ser847=)
n.3125C=
c.1593C= (p.Ser531=)
c.1083C= (p.Ser361=)
c.*1539C= (n.*1539C=)
c.2937C= (p.Ser979=)
c.2919C= (p.Ser973=)
22g.50720773C>GCA515260250SHANK3c.2541C>G (p.Ser847Arg)
n.3125C>G
c.1593C>G (p.Ser531Arg)
c.1083C>G (p.Ser361Arg)
c.*1539C>G (n.*1539C>G)
c.2937C>G (p.Ser979Arg)
c.2919C>G (p.Ser973Arg)
 gnomAD v4
22g.50720773C>TCA515260249SHANK3c.2541C>T (p.Ser847=)
n.3125C>T
c.1593C>T (p.Ser531=)
c.1083C>T (p.Ser361=)
c.*1539C>T (n.*1539C>T)
c.2937C>T (p.Ser979=)
c.2919C>T (p.Ser973=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720774T>ACA515260252SHANK3c.2542T>A (p.Phe848Ile)
n.3126T>A
c.1594T>A (p.Phe532Ile)
c.1084T>A (p.Phe362Ile)
c.*1540T>A (n.*1540T>A)
c.2938T>A (p.Phe980Ile)
c.2920T>A (p.Phe974Ile)
 gnomAD v4
22g.50720774T>CCA515260253SHANK3c.2542T>C (p.Phe848Leu)
n.3126T>C
c.1594T>C (p.Phe532Leu)
c.1084T>C (p.Phe362Leu)
c.*1540T>C (n.*1540T>C)
c.2938T>C (p.Phe980Leu)
c.2920T>C (p.Phe974Leu)
 gnomAD v4
22g.50720774T>GCA515260254SHANK3c.2542T>G (p.Phe848Val)
n.3126T>G
c.1594T>G (p.Phe532Val)
c.1084T>G (p.Phe362Val)
c.*1540T>G (n.*1540T>G)
c.2938T>G (p.Phe980Val)
c.2920T>G (p.Phe974Val)
22g.50720775T>ACA515260255SHANK3c.2543T>A (p.Phe848Tyr)
n.3127T>A
c.1595T>A (p.Phe532Tyr)
c.1085T>A (p.Phe362Tyr)
c.*1541T>A (n.*1541T>A)
c.2939T>A (p.Phe980Tyr)
c.2921T>A (p.Phe974Tyr)
22g.50720775T>CCA515260256SHANK3c.2543T>C (p.Phe848Ser)
n.3127T>C
c.1595T>C (p.Phe532Ser)
c.1085T>C (p.Phe362Ser)
c.*1541T>C (n.*1541T>C)
c.2939T>C (p.Phe980Ser)
c.2921T>C (p.Phe974Ser)
 gnomAD v4
22g.50720775T>GCA515260257SHANK3c.2543T>G (p.Phe848Cys)
n.3127T>G
c.1595T>G (p.Phe532Cys)
c.1085T>G (p.Phe362Cys)
c.*1541T>G (n.*1541T>G)
c.2939T>G (p.Phe980Cys)
c.2921T>G (p.Phe974Cys)
22g.50720776C>ACA515260260SHANK3c.2544C>A (p.Phe848Leu)
n.3128C>A
c.1596C>A (p.Phe532Leu)
c.1086C>A (p.Phe362Leu)
c.*1542C>A (n.*1542C>A)
c.2940C>A (p.Phe980Leu)
c.2922C>A (p.Phe974Leu)
 gnomAD v4
22g.50720776C=CA2411007818SHANK3c.2544C= (p.Phe848=)
n.3128C=
c.1596C= (p.Phe532=)
c.1086C= (p.Phe362=)
c.*1542C= (n.*1542C=)
c.2940C= (p.Phe980=)
c.2922C= (p.Phe974=)
22g.50720776C>GCA515260259SHANK3c.2544C>G (p.Phe848Leu)
n.3128C>G
c.1596C>G (p.Phe532Leu)
c.1086C>G (p.Phe362Leu)
c.*1542C>G (n.*1542C>G)
c.2940C>G (p.Phe980Leu)
c.2922C>G (p.Phe974Leu)
 gnomAD v4
22g.50720776C>TCA515260258SHANK3c.2544C>T (p.Phe848=)
n.3128C>T
c.1596C>T (p.Phe532=)
c.1086C>T (p.Phe362=)
c.*1542C>T (n.*1542C>T)
c.2940C>T (p.Phe980=)
c.2922C>T (p.Phe974=)
 dbSNP gnomAD v4
22g.50720779_50720782delCA891842416SHANK3c.2547_2550del (p.Arg850SerfsTer?)
n.3131_3134del
c.1599_1602del (p.Arg534SerfsTer?)
c.1089_1092del (p.Arg364SerfsTer?)
c.*1545_*1548del (n.*1545_*1548del)
c.2943_2946del (p.Arg982SerfsTer?)
c.2925_2928del (p.Arg976SerfsTer?)
22g.50720782_50720815delCA2819316027SHANK3c.2550_2583del (p.Glu851ValfsTer?)
n.3134_3167del
c.1602_1635del (p.Glu535ValfsTer?)
c.1092_1125del (p.Glu365ValfsTer?)
c.*1548_*1581del (n.*1548_*1581del)
c.2946_2979del (p.Glu983ValfsTer?)
c.2928_2961del (p.Glu977ValfsTer?)
22g.50720777G>ACA515260261SHANK3c.2545G>A (p.Ala849Thr)
n.3129G>A
c.1597G>A (p.Ala533Thr)
c.1087G>A (p.Ala363Thr)
c.*1543G>A (n.*1543G>A)
c.2941G>A (p.Ala981Thr)
c.2923G>A (p.Ala975Thr)
 dbSNP gnomAD v3 gnomAD v4
22g.50720777G>CCA515260262SHANK3c.2545G>C (p.Ala849Pro)
n.3129G>C
c.1597G>C (p.Ala533Pro)
c.1087G>C (p.Ala363Pro)
c.*1543G>C (n.*1543G>C)
c.2941G>C (p.Ala981Pro)
c.2923G>C (p.Ala975Pro)
 gnomAD v4
22g.50720777G=CA2411007819SHANK3c.2545G= (p.Ala849=)
n.3129G=
c.1597G= (p.Ala533=)
c.1087G= (p.Ala363=)
c.*1543G= (n.*1543G=)
c.2941G= (p.Ala981=)
c.2923G= (p.Ala975=)
22g.50720777G>TCA515260263SHANK3c.2545G>T (p.Ala849Ser)
n.3129G>T
c.1597G>T (p.Ala533Ser)
c.1087G>T (p.Ala363Ser)
c.*1543G>T (n.*1543G>T)
c.2941G>T (p.Ala981Ser)
c.2923G>T (p.Ala975Ser)
 dbSNP gnomAD v2 gnomAD v4
22g.50720778C>ACA515260264SHANK3c.2546C>A (p.Ala849Asp)
n.3130C>A
c.1598C>A (p.Ala533Asp)
c.1088C>A (p.Ala363Asp)
c.*1544C>A (n.*1544C>A)
c.2942C>A (p.Ala981Asp)
c.2924C>A (p.Ala975Asp)
 gnomAD v3 gnomAD v4
22g.50720778C=CA2411007820SHANK3c.2546C= (p.Ala849=)
n.3130C=
c.1598C= (p.Ala533=)
c.1088C= (p.Ala363=)
c.*1544C= (n.*1544C=)
c.2942C= (p.Ala981=)
c.2924C= (p.Ala975=)
22g.50720778C>GCA515260265SHANK3c.2546C>G (p.Ala849Gly)
n.3130C>G
c.1598C>G (p.Ala533Gly)
c.1088C>G (p.Ala363Gly)
c.*1544C>G (n.*1544C>G)
c.2942C>G (p.Ala981Gly)
c.2924C>G (p.Ala975Gly)
 gnomAD v4
22g.50720778C>TCA10325941SHANK3c.2546C>T (p.Ala849Val)
n.3130C>T
c.1598C>T (p.Ala533Val)
c.1088C>T (p.Ala363Val)
c.*1544C>T (n.*1544C>T)
c.2942C>T (p.Ala981Val)
c.2924C>T (p.Ala975Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50720780delCA2657583404SHANK3c.2548del (p.Arg850AlafsTer?)
n.3132del
c.1600del (p.Arg534AlafsTer?)
c.1090del (p.Arg364AlafsTer?)
c.*1546del (n.*1546del)
c.2944del (p.Arg982AlafsTer?)
c.2926del (p.Arg976AlafsTer?)
 gnomAD v4
22g.50720779C>ACA515260266SHANK3c.2547C>A (p.Ala849=)
n.3131C>A
c.1599C>A (p.Ala533=)
c.1089C>A (p.Ala363=)
c.*1545C>A (n.*1545C>A)
c.2943C>A (p.Ala981=)
c.2925C>A (p.Ala975=)
 gnomAD v4
22g.50720779C=CA2411007821SHANK3c.2547C= (p.Ala849=)
n.3131C=
c.1599C= (p.Ala533=)
c.1089C= (p.Ala363=)
c.*1545C= (n.*1545C=)
c.2943C= (p.Ala981=)
c.2925C= (p.Ala975=)
22g.50720779C>GCA515260267SHANK3c.2547C>G (p.Ala849=)
n.3131C>G
c.1599C>G (p.Ala533=)
c.1089C>G (p.Ala363=)
c.*1545C>G (n.*1545C>G)
c.2943C>G (p.Ala981=)
c.2925C>G (p.Ala975=)
 gnomAD v4
22g.50720779C>TCA10325942SHANK3c.2547C>T (p.Ala849=)
n.3131C>T
c.1599C>T (p.Ala533=)
c.1089C>T (p.Ala363=)
c.*1545C>T (n.*1545C>T)
c.2943C>T (p.Ala981=)
c.2925C>T (p.Ala975=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50720784_50720804dupCA2657583405SHANK3c.2552_2572dup (p.Arg857_Gly858insGluProSerProThrHisArg)
n.3136_3156dup
c.1604_1624dup (p.Arg541_Gly542insGluProSerProThrHisArg)
c.1094_1114dup (p.Arg371_Gly372insGluProSerProThrHisArg)
c.*1550_*1570dup (n.*1550_*1570dup)
c.2948_2968dup (p.Arg989_Gly990insGluProSerProThrHisArg)
c.2930_2950dup (p.Arg983_Gly984insGluProSerProThrHisArg)
 gnomAD v4
22g.50720780C>ACA515260268SHANK3c.2548C>A (p.Arg850Ser)
n.3132C>A
c.1600C>A (p.Arg534Ser)
c.1090C>A (p.Arg364Ser)
c.*1546C>A (n.*1546C>A)
c.2944C>A (p.Arg982Ser)
c.2926C>A (p.Arg976Ser)
 gnomAD v3 gnomAD v4
22g.50720780C>GCA515260269SHANK3c.2548C>G (p.Arg850Gly)
n.3132C>G
c.1600C>G (p.Arg534Gly)
c.1090C>G (p.Arg364Gly)
c.*1546C>G (n.*1546C>G)
c.2944C>G (p.Arg982Gly)
c.2926C>G (p.Arg976Gly)
 gnomAD v4
22g.50720780C>TCA515260270SHANK3c.2548C>T (p.Arg850Cys)
n.3132C>T
c.1600C>T (p.Arg534Cys)
c.1090C>T (p.Arg364Cys)
c.*1546C>T (n.*1546C>T)
c.2944C>T (p.Arg982Cys)
c.2926C>T (p.Arg976Cys)
 gnomAD v4
22g.50720781delCA2657583406SHANK3c.2549del (p.Arg850ProfsTer?)
n.3133del
c.1601del (p.Arg534ProfsTer?)
c.1091del (p.Arg364ProfsTer?)
c.*1547del (n.*1547del)
c.2945del (p.Arg982ProfsTer?)
c.2927del (p.Arg976ProfsTer?)
 gnomAD v4
22g.50720781G>ACA515260271SHANK3c.2549G>A (p.Arg850His)
n.3133G>A
c.1601G>A (p.Arg534His)
c.1091G>A (p.Arg364His)
c.*1547G>A (n.*1547G>A)
c.2945G>A (p.Arg982His)
c.2927G>A (p.Arg976His)
 dbSNP gnomAD v4
22g.50720781G>CCA325578280SHANK3c.2549G>C (p.Arg850Pro)
n.3133G>C
c.1601G>C (p.Arg534Pro)
c.1091G>C (p.Arg364Pro)
c.*1547G>C (n.*1547G>C)
c.2945G>C (p.Arg982Pro)
c.2927G>C (p.Arg976Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50720781G=CA2411007822SHANK3c.2549G= (p.Arg850=)
n.3133G=
c.1601G= (p.Arg534=)
c.1091G= (p.Arg364=)
c.*1547G= (n.*1547G=)
c.2945G= (p.Arg982=)
c.2927G= (p.Arg976=)
22g.50720781G>TCA515260272SHANK3c.2549G>T (p.Arg850Leu)
n.3133G>T
c.1601G>T (p.Arg534Leu)
c.1091G>T (p.Arg364Leu)
c.*1547G>T (n.*1547G>T)
c.2945G>T (p.Arg982Leu)
c.2927G>T (p.Arg976Leu)
 gnomAD v4
22g.50720782C>ACA515260273SHANK3c.2550C>A (p.Arg850=)
n.3134C>A
c.1602C>A (p.Arg534=)
c.1092C>A (p.Arg364=)
c.*1548C>A (n.*1548C>A)
c.2946C>A (p.Arg982=)
c.2928C>A (p.Arg976=)
 dbSNP gnomAD v4
22g.50720782C=CA2411007823SHANK3c.2550C= (p.Arg850=)
n.3134C=
c.1602C= (p.Arg534=)
c.1092C= (p.Arg364=)
c.*1548C= (n.*1548C=)
c.2946C= (p.Arg982=)
c.2928C= (p.Arg976=)
22g.50720782C>GCA515260274SHANK3c.2550C>G (p.Arg850=)
n.3134C>G
c.1602C>G (p.Arg534=)
c.1092C>G (p.Arg364=)
c.*1548C>G (n.*1548C>G)
c.2946C>G (p.Arg982=)
c.2928C>G (p.Arg976=)
 gnomAD v4
22g.50720782C>TCA515260275SHANK3c.2550C>T (p.Arg850=)
n.3134C>T
c.1602C>T (p.Arg534=)
c.1092C>T (p.Arg364=)
c.*1548C>T (n.*1548C>T)
c.2946C>T (p.Arg982=)
c.2928C>T (p.Arg976=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720783G>ACA515260276SHANK3c.2551G>A (p.Glu851Lys)
n.3135G>A
c.1603G>A (p.Glu535Lys)
c.1093G>A (p.Glu365Lys)
c.*1549G>A (n.*1549G>A)
c.2947G>A (p.Glu983Lys)
c.2929G>A (p.Glu977Lys)
 dbSNP gnomAD v4
22g.50720783G>CCA515260277SHANK3c.2551G>C (p.Glu851Gln)
n.3135G>C
c.1603G>C (p.Glu535Gln)
c.1093G>C (p.Glu365Gln)
c.*1549G>C (n.*1549G>C)
c.2947G>C (p.Glu983Gln)
c.2929G>C (p.Glu977Gln)
 gnomAD v4
22g.50720783G=CA2411007824SHANK3c.2551G= (p.Glu851=)
n.3135G=
c.1603G= (p.Glu535=)
c.1093G= (p.Glu365=)
c.*1549G= (n.*1549G=)
c.2947G= (p.Glu983=)
c.2929G= (p.Glu977=)
22g.50720783G>TCA515260278SHANK3c.2551G>T (p.Glu851Ter)
n.3135G>T
c.1603G>T (p.Glu535Ter)
c.1093G>T (p.Glu365Ter)
c.*1549G>T (n.*1549G>T)
c.2947G>T (p.Glu983Ter)
c.2929G>T (p.Glu977Ter)
 ClinVar dbSNP gnomAD v4
22g.50720784A>CCA515260279SHANK3c.2552A>C (p.Glu851Ala)
n.3136A>C
c.1604A>C (p.Glu535Ala)
c.1094A>C (p.Glu365Ala)
c.*1550A>C (n.*1550A>C)
c.2948A>C (p.Glu983Ala)
c.2930A>C (p.Glu977Ala)
22g.50720784A>GCA515260281SHANK3c.2552A>G (p.Glu851Gly)
n.3136A>G
c.1604A>G (p.Glu535Gly)
c.1094A>G (p.Glu365Gly)
c.*1550A>G (n.*1550A>G)
c.2948A>G (p.Glu983Gly)
c.2930A>G (p.Glu977Gly)
 gnomAD v4
22g.50720784A>TCA515260280SHANK3c.2552A>T (p.Glu851Val)
n.3136A>T
c.1604A>T (p.Glu535Val)
c.1094A>T (p.Glu365Val)
c.*1550A>T (n.*1550A>T)
c.2948A>T (p.Glu983Val)
c.2930A>T (p.Glu977Val)
22g.50720785G>ACA515260282SHANK3c.2553G>A (p.Glu851=)
n.3137G>A
c.1605G>A (p.Glu535=)
c.1095G>A (p.Glu365=)
c.*1551G>A (n.*1551G>A)
c.2949G>A (p.Glu983=)
c.2931G>A (p.Glu977=)
 gnomAD v4
22g.50720785G>CCA515260283SHANK3c.2553G>C (p.Glu851Asp)
n.3137G>C
c.1605G>C (p.Glu535Asp)
c.1095G>C (p.Glu365Asp)
c.*1551G>C (n.*1551G>C)
c.2949G>C (p.Glu983Asp)
c.2931G>C (p.Glu977Asp)
 gnomAD v4
22g.50720785G>TCA515260284SHANK3c.2553G>T (p.Glu851Asp)
n.3137G>T
c.1605G>T (p.Glu535Asp)
c.1095G>T (p.Glu365Asp)
c.*1551G>T (n.*1551G>T)
c.2949G>T (p.Glu983Asp)
c.2931G>T (p.Glu977Asp)
 gnomAD v4
22g.50720786C>ACA515260285SHANK3c.2554C>A (p.Pro852Thr)
n.3138C>A
c.1606C>A (p.Pro536Thr)
c.1096C>A (p.Pro366Thr)
c.*1552C>A (n.*1552C>A)
c.2950C>A (p.Pro984Thr)
c.2932C>A (p.Pro978Thr)
 dbSNP gnomAD v4
22g.50720786C=CA2411007825SHANK3c.2554C= (p.Pro852=)
n.3138C=
c.1606C= (p.Pro536=)
c.1096C= (p.Pro366=)
c.*1552C= (n.*1552C=)
c.2950C= (p.Pro984=)
c.2932C= (p.Pro978=)
22g.50720786C>GCA515260286SHANK3c.2554C>G (p.Pro852Ala)
n.3138C>G
c.1606C>G (p.Pro536Ala)
c.1096C>G (p.Pro366Ala)
c.*1552C>G (n.*1552C>G)
c.2950C>G (p.Pro984Ala)
c.2932C>G (p.Pro978Ala)
 gnomAD v4
22g.50720786C>TCA515260287SHANK3c.2554C>T (p.Pro852Ser)
n.3138C>T
c.1606C>T (p.Pro536Ser)
c.1096C>T (p.Pro366Ser)
c.*1552C>T (n.*1552C>T)
c.2950C>T (p.Pro984Ser)
c.2932C>T (p.Pro978Ser)
 gnomAD v4
22g.50720788dupCA2657583407SHANK3c.2556dup (p.Ser853LeufsTer?)
n.3140dup
c.1608dup (p.Ser537LeufsTer?)
c.1098dup (p.Ser367LeufsTer?)
c.*1554dup (n.*1554dup)
c.2952dup (p.Ser985LeufsTer?)
c.2934dup (p.Ser979LeufsTer?)
 gnomAD v4
22g.50720788delCA2657583408SHANK3c.2556del (p.Ser853ProfsTer?)
n.3140del
c.1608del (p.Ser537ProfsTer?)
c.1098del (p.Ser367ProfsTer?)
c.*1554del (n.*1554del)
c.2952del (p.Ser985ProfsTer?)
c.2934del (p.Ser979ProfsTer?)
 gnomAD v4
22g.50720787C>ACA515260288SHANK3c.2555C>A (p.Pro852His)
n.3139C>A
c.1607C>A (p.Pro536His)
c.1097C>A (p.Pro366His)
c.*1553C>A (n.*1553C>A)
c.2951C>A (p.Pro984His)
c.2933C>A (p.Pro978His)
 gnomAD v4
22g.50720787C>GCA515260289SHANK3c.2555C>G (p.Pro852Arg)
n.3139C>G
c.1607C>G (p.Pro536Arg)
c.1097C>G (p.Pro366Arg)
c.*1553C>G (n.*1553C>G)
c.2951C>G (p.Pro984Arg)
c.2933C>G (p.Pro978Arg)
22g.50720787C>TCA515260290SHANK3c.2555C>T (p.Pro852Leu)
n.3139C>T
c.1607C>T (p.Pro536Leu)
c.1097C>T (p.Pro366Leu)
c.*1553C>T (n.*1553C>T)
c.2951C>T (p.Pro984Leu)
c.2933C>T (p.Pro978Leu)
 gnomAD v4
22g.50720788C>ACA515260291SHANK3c.2556C>A (p.Pro852=)
n.3140C>A
c.1608C>A (p.Pro536=)
c.1098C>A (p.Pro366=)
c.*1554C>A (n.*1554C>A)
c.2952C>A (p.Pro984=)
c.2934C>A (p.Pro978=)
 gnomAD v4
22g.50720788C=CA2411007826SHANK3c.2556C= (p.Pro852=)
n.3140C=
c.1608C= (p.Pro536=)
c.1098C= (p.Pro366=)
c.*1554C= (n.*1554C=)
c.2952C= (p.Pro984=)
c.2934C= (p.Pro978=)
22g.50720788C>GCA515260292SHANK3c.2556C>G (p.Pro852=)
n.3140C>G
c.1608C>G (p.Pro536=)
c.1098C>G (p.Pro366=)
c.*1554C>G (n.*1554C>G)
c.2952C>G (p.Pro984=)
c.2934C>G (p.Pro978=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720788C>TCA325578299SHANK3c.2556C>T (p.Pro852=)
n.3140C>T
c.1608C>T (p.Pro536=)
c.1098C>T (p.Pro366=)
c.*1554C>T (n.*1554C>T)
c.2952C>T (p.Pro984=)
c.2934C>T (p.Pro978=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720795_50720796insGCTCTCCCCGACA2580099961SHANK3c.2563_2564insGCTCTCCCCGA (p.Thr855SerfsTer?)
n.3147_3148insGCTCTCCCCGA
c.1615_1616insGCTCTCCCCGA (p.Thr539SerfsTer?)
c.1105_1106insGCTCTCCCCGA (p.Thr369SerfsTer?)
c.*1561_*1562insGCTCTCCCCGA (n.*1561_*1562insGCTCTCCCCGA)
c.2959_2960insGCTCTCCCCGA (p.Thr987SerfsTer?)
c.2941_2942insGCTCTCCCCGA (p.Thr981SerfsTer?)
 ClinVar
22g.50720789delCA2657583409SHANK3c.2557del (p.Ser853ProfsTer?)
n.3141del
c.1609del (p.Ser537ProfsTer?)
c.1099del (p.Ser367ProfsTer?)
c.*1555del (n.*1555del)
c.2953del (p.Ser985ProfsTer?)
c.2935del (p.Ser979ProfsTer?)
 gnomAD v4
22g.50720789T>ACA515260295SHANK3c.2557T>A (p.Ser853Thr)
n.3141T>A
c.1609T>A (p.Ser537Thr)
c.1099T>A (p.Ser367Thr)
c.*1555T>A (n.*1555T>A)
c.2953T>A (p.Ser985Thr)
c.2935T>A (p.Ser979Thr)
22g.50720789T>CCA515260294SHANK3c.2557T>C (p.Ser853Pro)
n.3141T>C
c.1609T>C (p.Ser537Pro)
c.1099T>C (p.Ser367Pro)
c.*1555T>C (n.*1555T>C)
c.2953T>C (p.Ser985Pro)
c.2935T>C (p.Ser979Pro)
 gnomAD v4
22g.50720789T>GCA515260293SHANK3c.2557T>G (p.Ser853Ala)
n.3141T>G
c.1609T>G (p.Ser537Ala)
c.1099T>G (p.Ser367Ala)
c.*1555T>G (n.*1555T>G)
c.2953T>G (p.Ser985Ala)
c.2935T>G (p.Ser979Ala)
22g.50720789_50720790delinsTCCA2411007827SHANK3c.2557_2558delinsTC (p.Ser853=)
n.3141_3142delinsTC
c.1609_1610delinsTC (p.Ser537=)
c.1099_1100delinsTC (p.Ser367=)
c.*1555_*1556delinsTC (n.*1555_*1556delinsTC)
c.2953_2954delinsTC (p.Ser985=)
c.2935_2936delinsTC (p.Ser979=)
22g.50720790C>ACA515260296SHANK3c.2558C>A (p.Ser853Tyr)
n.3142C>A
c.1610C>A (p.Ser537Tyr)
c.1100C>A (p.Ser367Tyr)
c.*1556C>A (n.*1556C>A)
c.2954C>A (p.Ser985Tyr)
c.2936C>A (p.Ser979Tyr)
 gnomAD v4
22g.50720790C>GCA515260297SHANK3c.2558C>G (p.Ser853Cys)
n.3142C>G
c.1610C>G (p.Ser537Cys)
c.1100C>G (p.Ser367Cys)
c.*1556C>G (n.*1556C>G)
c.2954C>G (p.Ser985Cys)
c.2936C>G (p.Ser979Cys)
 gnomAD v4
22g.50720790C>TCA515260298SHANK3c.2558C>T (p.Ser853Phe)
n.3142C>T
c.1610C>T (p.Ser537Phe)
c.1100C>T (p.Ser367Phe)
c.*1556C>T (n.*1556C>T)
c.2954C>T (p.Ser985Phe)
c.2936C>T (p.Ser979Phe)
 gnomAD v4
22g.50720793delCA640358969SHANK3c.2561del (p.Pro854ArgfsTer?)
n.3145del
c.1613del (p.Pro538ArgfsTer?)
c.1103del (p.Pro368ArgfsTer?)
c.*1559del (n.*1559del)
c.2957del (p.Pro986ArgfsTer?)
c.2939del (p.Pro980ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
22g.50720792_50720793delCA2819316045SHANK3c.2560_2561del (p.Pro854AspfsTer?)
n.3144_3145del
c.1612_1613del (p.Pro538AspfsTer?)
c.1102_1103del (p.Pro368AspfsTer?)
c.*1558_*1559del (n.*1558_*1559del)
c.2956_2957del (p.Pro986AspfsTer?)
c.2938_2939del (p.Pro980AspfsTer?)
22g.50720791C>ACA515260299SHANK3c.2559C>A (p.Ser853=)
n.3143C>A
c.1611C>A (p.Ser537=)
c.1101C>A (p.Ser367=)
c.*1557C>A (n.*1557C>A)
c.2955C>A (p.Ser985=)
c.2937C>A (p.Ser979=)
 gnomAD v4
22g.50720791C=CA2411007828SHANK3c.2559C= (p.Ser853=)
n.3143C=
c.1611C= (p.Ser537=)
c.1101C= (p.Ser367=)
c.*1557C= (n.*1557C=)
c.2955C= (p.Ser985=)
c.2937C= (p.Ser979=)
22g.50720791C>GCA515260300SHANK3c.2559C>G (p.Ser853=)
n.3143C>G
c.1611C>G (p.Ser537=)
c.1101C>G (p.Ser367=)
c.*1557C>G (n.*1557C>G)
c.2955C>G (p.Ser985=)
c.2937C>G (p.Ser979=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720791C>TCA515260301SHANK3c.2559C>T (p.Ser853=)
n.3143C>T
c.1611C>T (p.Ser537=)
c.1101C>T (p.Ser367=)
c.*1557C>T (n.*1557C>T)
c.2955C>T (p.Ser985=)
c.2937C>T (p.Ser979=)
 gnomAD v4
22g.50720792C>ACA515260302SHANK3c.2560C>A (p.Pro854Thr)
n.3144C>A
c.1612C>A (p.Pro538Thr)
c.1102C>A (p.Pro368Thr)
c.*1558C>A (n.*1558C>A)
c.2956C>A (p.Pro986Thr)
c.2938C>A (p.Pro980Thr)
 gnomAD v4
22g.50720792C>GCA515260303SHANK3c.2560C>G (p.Pro854Ala)
n.3144C>G
c.1612C>G (p.Pro538Ala)
c.1102C>G (p.Pro368Ala)
c.*1558C>G (n.*1558C>G)
c.2956C>G (p.Pro986Ala)
c.2938C>G (p.Pro980Ala)
 gnomAD v4
22g.50720792C>TCA515260304SHANK3c.2560C>T (p.Pro854Ser)
n.3144C>T
c.1612C>T (p.Pro538Ser)
c.1102C>T (p.Pro368Ser)
c.*1558C>T (n.*1558C>T)
c.2956C>T (p.Pro986Ser)
c.2938C>T (p.Pro980Ser)
 gnomAD v4
22g.50720793C>ACA515260305SHANK3c.2561C>A (p.Pro854Gln)
n.3145C>A
c.1613C>A (p.Pro538Gln)
c.1103C>A (p.Pro368Gln)
c.*1559C>A (n.*1559C>A)
c.2957C>A (p.Pro986Gln)
c.2939C>A (p.Pro980Gln)
 gnomAD v4
22g.50720793C>GCA515260306SHANK3c.2561C>G (p.Pro854Arg)
n.3145C>G
c.1613C>G (p.Pro538Arg)
c.1103C>G (p.Pro368Arg)
c.*1559C>G (n.*1559C>G)
c.2957C>G (p.Pro986Arg)
c.2939C>G (p.Pro980Arg)
 gnomAD v4
22g.50720793C>TCA515260307SHANK3c.2561C>T (p.Pro854Leu)
n.3145C>T
c.1613C>T (p.Pro538Leu)
c.1103C>T (p.Pro368Leu)
c.*1559C>T (n.*1559C>T)
c.2957C>T (p.Pro986Leu)
c.2939C>T (p.Pro980Leu)
 gnomAD v4
22g.50720794G>ACA515260311SHANK3c.2562G>A (p.Pro854=)
n.3146G>A
c.1614G>A (p.Pro538=)
c.1104G>A (p.Pro368=)
c.*1560G>A (n.*1560G>A)
c.2958G>A (p.Pro986=)
c.2940G>A (p.Pro980=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720794G>CCA515260310SHANK3c.2562G>C (p.Pro854=)
n.3146G>C
c.1614G>C (p.Pro538=)
c.1104G>C (p.Pro368=)
c.*1560G>C (n.*1560G>C)
c.2958G>C (p.Pro986=)
c.2940G>C (p.Pro980=)
22g.50720794G=CA2411007829SHANK3c.2562G= (p.Pro854=)
n.3146G=
c.1614G= (p.Pro538=)
c.1104G= (p.Pro368=)
c.*1560G= (n.*1560G=)
c.2958G= (p.Pro986=)
c.2940G= (p.Pro980=)
22g.50720794G>TCA515260309SHANK3c.2562G>T (p.Pro854=)
n.3146G>T
c.1614G>T (p.Pro538=)
c.1104G>T (p.Pro368=)
c.*1560G>T (n.*1560G>T)
c.2958G>T (p.Pro986=)
c.2940G>T (p.Pro980=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720795A=CA2411007830SHANK3c.2563A= (p.Thr855=)
n.3147A=
c.1615A= (p.Thr539=)
c.1105A= (p.Thr369=)
c.*1561A= (n.*1561A=)
c.2959A= (p.Thr987=)
c.2941A= (p.Thr981=)
22g.50720795A>CCA515260312SHANK3c.2563A>C (p.Thr855Pro)
n.3147A>C
c.1615A>C (p.Thr539Pro)
c.1105A>C (p.Thr369Pro)
c.*1561A>C (n.*1561A>C)
c.2959A>C (p.Thr987Pro)
c.2941A>C (p.Thr981Pro)
 dbSNP gnomAD v4
22g.50720795A>GCA515260314SHANK3c.2563A>G (p.Thr855Ala)
n.3147A>G
c.1615A>G (p.Thr539Ala)
c.1105A>G (p.Thr369Ala)
c.*1561A>G (n.*1561A>G)
c.2959A>G (p.Thr987Ala)
c.2941A>G (p.Thr981Ala)
 dbSNP gnomAD v4
22g.50720795A>TCA515260313SHANK3c.2563A>T (p.Thr855Ser)
n.3147A>T
c.1615A>T (p.Thr539Ser)
c.1105A>T (p.Thr369Ser)
c.*1561A>T (n.*1561A>T)
c.2959A>T (p.Thr987Ser)
c.2941A>T (p.Thr981Ser)
 gnomAD v4
22g.50720796C>ACA515260315SHANK3c.2564C>A (p.Thr855Asn)
n.3148C>A
c.1616C>A (p.Thr539Asn)
c.1106C>A (p.Thr369Asn)
c.*1562C>A (n.*1562C>A)
c.2960C>A (p.Thr987Asn)
c.2942C>A (p.Thr981Asn)
 gnomAD v4
22g.50720796C=CA2411007831SHANK3c.2564C= (p.Thr855=)
n.3148C=
c.1616C= (p.Thr539=)
c.1106C= (p.Thr369=)
c.*1562C= (n.*1562C=)
c.2960C= (p.Thr987=)
c.2942C= (p.Thr981=)
22g.50720796C>GCA515260317SHANK3c.2564C>G (p.Thr855Ser)
n.3148C>G
c.1616C>G (p.Thr539Ser)
c.1106C>G (p.Thr369Ser)
c.*1562C>G (n.*1562C>G)
c.2960C>G (p.Thr987Ser)
c.2942C>G (p.Thr981Ser)
22g.50720796C>TCA515260316SHANK3c.2564C>T (p.Thr855Ile)
n.3148C>T
c.1616C>T (p.Thr539Ile)
c.1106C>T (p.Thr369Ile)
c.*1562C>T (n.*1562C>T)
c.2960C>T (p.Thr987Ile)
c.2942C>T (p.Thr981Ile)
 dbSNP gnomAD v4
22g.50720798delCA2657583410SHANK3c.2566del (p.His856ThrfsTer?)
n.3150del
c.1618del (p.His540ThrfsTer?)
c.1108del (p.His370ThrfsTer?)
c.*1564del (n.*1564del)
c.2962del (p.His988ThrfsTer?)
c.2944del (p.His982ThrfsTer?)
 gnomAD v4
22g.50720797_50720810delCA2740092005SHANK3c.2565_2578del (p.His856ProfsTer?)
n.3149_3162del
c.1617_1630del (p.His540ProfsTer?)
c.1107_1120del (p.His370ProfsTer?)
c.*1563_*1576del (n.*1563_*1576del)
c.2961_2974del (p.His988ProfsTer?)
c.2943_2956del (p.His982ProfsTer?)
 ClinVar
22g.50720797C>ACA515260318SHANK3c.2565C>A (p.Thr855=)
n.3149C>A
c.1617C>A (p.Thr539=)
c.1107C>A (p.Thr369=)
c.*1563C>A (n.*1563C>A)
c.2961C>A (p.Thr987=)
c.2943C>A (p.Thr981=)
 gnomAD v4
22g.50720797C=CA2411007832SHANK3c.2565C= (p.Thr855=)
n.3149C=
c.1617C= (p.Thr539=)
c.1107C= (p.Thr369=)
c.*1563C= (n.*1563C=)
c.2961C= (p.Thr987=)
c.2943C= (p.Thr981=)
22g.50720797C>GCA515260320SHANK3c.2565C>G (p.Thr855=)
n.3149C>G
c.1617C>G (p.Thr539=)
c.1107C>G (p.Thr369=)
c.*1563C>G (n.*1563C>G)
c.2961C>G (p.Thr987=)
c.2943C>G (p.Thr981=)
 gnomAD v4
22g.50720797C>TCA515260319SHANK3c.2565C>T (p.Thr855=)
n.3149C>T
c.1617C>T (p.Thr539=)
c.1107C>T (p.Thr369=)
c.*1563C>T (n.*1563C>T)
c.2961C>T (p.Thr987=)
c.2943C>T (p.Thr981=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720798C>ACA515260321SHANK3c.2566C>A (p.His856Asn)
n.3150C>A
c.1618C>A (p.His540Asn)
c.1108C>A (p.His370Asn)
c.*1564C>A (n.*1564C>A)
c.2962C>A (p.His988Asn)
c.2944C>A (p.His982Asn)
 gnomAD v4
22g.50720798C>GCA515260322SHANK3c.2566C>G (p.His856Asp)
n.3150C>G
c.1618C>G (p.His540Asp)
c.1108C>G (p.His370Asp)
c.*1564C>G (n.*1564C>G)
c.2962C>G (p.His988Asp)
c.2944C>G (p.His982Asp)
 gnomAD v4
22g.50720798C>TCA515260323SHANK3c.2566C>T (p.His856Tyr)
n.3150C>T
c.1618C>T (p.His540Tyr)
c.1108C>T (p.His370Tyr)
c.*1564C>T (n.*1564C>T)
c.2962C>T (p.His988Tyr)
c.2944C>T (p.His982Tyr)
 gnomAD v4
22g.50720799A>CCA515260324SHANK3c.2567A>C (p.His856Pro)
n.3151A>C
c.1619A>C (p.His540Pro)
c.1109A>C (p.His370Pro)
c.*1565A>C (n.*1565A>C)
c.2963A>C (p.His988Pro)
c.2945A>C (p.His982Pro)
 ClinVar gnomAD v3 gnomAD v4
22g.50720799A>GCA515260325SHANK3c.2567A>G (p.His856Arg)
n.3151A>G
c.1619A>G (p.His540Arg)
c.1109A>G (p.His370Arg)
c.*1565A>G (n.*1565A>G)
c.2963A>G (p.His988Arg)
c.2945A>G (p.His982Arg)
 gnomAD v4
22g.50720799A>TCA515260326SHANK3c.2567A>T (p.His856Leu)
n.3151A>T
c.1619A>T (p.His540Leu)
c.1109A>T (p.His370Leu)
c.*1565A>T (n.*1565A>T)
c.2963A>T (p.His988Leu)
c.2945A>T (p.His982Leu)
22g.50720800C>ACA515260329SHANK3c.2568C>A (p.His856Gln)
n.3152C>A
c.1620C>A (p.His540Gln)
c.1110C>A (p.His370Gln)
c.*1566C>A (n.*1566C>A)
c.2964C>A (p.His988Gln)
c.2946C>A (p.His982Gln)
 gnomAD v4
22g.50720800C>GCA515260328SHANK3c.2568C>G (p.His856Gln)
n.3152C>G
c.1620C>G (p.His540Gln)
c.1110C>G (p.His370Gln)
c.*1566C>G (n.*1566C>G)
c.2964C>G (p.His988Gln)
c.2946C>G (p.His982Gln)
 gnomAD v4
22g.50720800C>TCA515260327SHANK3c.2568C>T (p.His856=)
n.3152C>T
c.1620C>T (p.His540=)
c.1110C>T (p.His370=)
c.*1566C>T (n.*1566C>T)
c.2964C>T (p.His988=)
c.2946C>T (p.His982=)
 gnomAD v4
22g.50720801C>ACA515260330SHANK3c.2569C>A (p.Arg857Ser)
n.3153C>A
c.1621C>A (p.Arg541Ser)
c.1111C>A (p.Arg371Ser)
c.*1567C>A (n.*1567C>A)
c.2965C>A (p.Arg989Ser)
c.2947C>A (p.Arg983Ser)
 gnomAD v4
22g.50720801C>GCA515260331SHANK3c.2569C>G (p.Arg857Gly)
n.3153C>G
c.1621C>G (p.Arg541Gly)
c.1111C>G (p.Arg371Gly)
c.*1567C>G (n.*1567C>G)
c.2965C>G (p.Arg989Gly)
c.2947C>G (p.Arg983Gly)
22g.50720801C>TCA515260332SHANK3c.2569C>T (p.Arg857Cys)
n.3153C>T
c.1621C>T (p.Arg541Cys)
c.1111C>T (p.Arg371Cys)
c.*1567C>T (n.*1567C>T)
c.2965C>T (p.Arg989Cys)
c.2947C>T (p.Arg983Cys)
 gnomAD v4
22g.50720802delCA2819316059SHANK3c.2570del (p.Arg857ProfsTer?)
n.3154del
c.1622del (p.Arg541ProfsTer?)
c.1112del (p.Arg371ProfsTer?)
c.*1568del (n.*1568del)
c.2966del (p.Arg989ProfsTer?)
c.2948del (p.Arg983ProfsTer?)
22g.50720802G>ACA515260333SHANK3c.2570G>A (p.Arg857His)
n.3154G>A
c.1622G>A (p.Arg541His)
c.1112G>A (p.Arg371His)
c.*1568G>A (n.*1568G>A)
c.2966G>A (p.Arg989His)
c.2948G>A (p.Arg983His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720802G>CCA515260334SHANK3c.2570G>C (p.Arg857Pro)
n.3154G>C
c.1622G>C (p.Arg541Pro)
c.1112G>C (p.Arg371Pro)
c.*1568G>C (n.*1568G>C)
c.2966G>C (p.Arg989Pro)
c.2948G>C (p.Arg983Pro)
22g.50720802G=CA2411007833SHANK3c.2570G= (p.Arg857=)
n.3154G=
c.1622G= (p.Arg541=)
c.1112G= (p.Arg371=)
c.*1568G= (n.*1568G=)
c.2966G= (p.Arg989=)
c.2948G= (p.Arg983=)
22g.50720802G>TCA515260335SHANK3c.2570G>T (p.Arg857Leu)
n.3154G>T
c.1622G>T (p.Arg541Leu)
c.1112G>T (p.Arg371Leu)
c.*1568G>T (n.*1568G>T)
c.2966G>T (p.Arg989Leu)
c.2948G>T (p.Arg983Leu)
 gnomAD v4
22g.50720803delCA2657583411SHANK3c.2571del (p.Gly858ValfsTer?)
n.3155del
c.1623del (p.Gly542ValfsTer?)
c.1113del (p.Gly372ValfsTer?)
c.*1569del (n.*1569del)
c.2967del (p.Gly990ValfsTer?)
c.2949del (p.Gly984ValfsTer?)
 gnomAD v4
22g.50720803C>ACA515260336SHANK3c.2571C>A (p.Arg857=)
n.3155C>A
c.1623C>A (p.Arg541=)
c.1113C>A (p.Arg371=)
c.*1569C>A (n.*1569C>A)
c.2967C>A (p.Arg989=)
c.2949C>A (p.Arg983=)
 ClinVar dbSNP gnomAD v4
22g.50720803C=CA2411007834SHANK3c.2571C= (p.Arg857=)
n.3155C=
c.1623C= (p.Arg541=)
c.1113C= (p.Arg371=)
c.*1569C= (n.*1569C=)
c.2967C= (p.Arg989=)
c.2949C= (p.Arg983=)
22g.50720803C>GCA515260338SHANK3c.2571C>G (p.Arg857=)
n.3155C>G
c.1623C>G (p.Arg541=)
c.1113C>G (p.Arg371=)
c.*1569C>G (n.*1569C>G)
c.2967C>G (p.Arg989=)
c.2949C>G (p.Arg983=)
 gnomAD v4
22g.50720803C>TCA515260337SHANK3c.2571C>T (p.Arg857=)
n.3155C>T
c.1623C>T (p.Arg541=)
c.1113C>T (p.Arg371=)
c.*1569C>T (n.*1569C>T)
c.2967C>T (p.Arg989=)
c.2949C>T (p.Arg983=)
 gnomAD v4
22g.50720804G>ACA325578304SHANK3c.2572G>A (p.Gly858Ser)
n.3156G>A
c.1624G>A (p.Gly542Ser)
c.1114G>A (p.Gly372Ser)
c.*1570G>A (n.*1570G>A)
c.2968G>A (p.Gly990Ser)
c.2950G>A (p.Gly984Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50720804G>CCA515260339SHANK3c.2572G>C (p.Gly858Arg)
n.3156G>C
c.1624G>C (p.Gly542Arg)
c.1114G>C (p.Gly372Arg)
c.*1570G>C (n.*1570G>C)
c.2968G>C (p.Gly990Arg)
c.2950G>C (p.Gly984Arg)
 gnomAD v4
22g.50720804G=CA2411007835SHANK3c.2572G= (p.Gly858=)
n.3156G=
c.1624G= (p.Gly542=)
c.1114G= (p.Gly372=)
c.*1570G= (n.*1570G=)
c.2968G= (p.Gly990=)
c.2950G= (p.Gly984=)
22g.50720804G>TCA515260340SHANK3c.2572G>T (p.Gly858Cys)
n.3156G>T
c.1624G>T (p.Gly542Cys)
c.1114G>T (p.Gly372Cys)
c.*1570G>T (n.*1570G>T)
c.2968G>T (p.Gly990Cys)
c.2950G>T (p.Gly984Cys)
 gnomAD v4
22g.50720805delCA2657583412SHANK3c.2573del (p.Gly858ValfsTer?)
n.3157del
c.1625del (p.Gly542ValfsTer?)
c.1115del (p.Gly372ValfsTer?)
c.*1571del (n.*1571del)
c.2969del (p.Gly990ValfsTer?)
c.2951del (p.Gly984ValfsTer?)
 gnomAD v4
22g.50720805G>ACA515260341SHANK3c.2573G>A (p.Gly858Asp)
n.3157G>A
c.1625G>A (p.Gly542Asp)
c.1115G>A (p.Gly372Asp)
c.*1571G>A (n.*1571G>A)
c.2969G>A (p.Gly990Asp)
c.2951G>A (p.Gly984Asp)
 gnomAD v4
22g.50720805G>CCA515260342SHANK3c.2573G>C (p.Gly858Ala)
n.3157G>C
c.1625G>C (p.Gly542Ala)
c.1115G>C (p.Gly372Ala)
c.*1571G>C (n.*1571G>C)
c.2969G>C (p.Gly990Ala)
c.2951G>C (p.Gly984Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50720805G=CA2411007836SHANK3c.2573G= (p.Gly858=)
n.3157G=
c.1625G= (p.Gly542=)
c.1115G= (p.Gly372=)
c.*1571G= (n.*1571G=)
c.2969G= (p.Gly990=)
c.2951G= (p.Gly984=)
22g.50720805G>TCA515260343SHANK3c.2573G>T (p.Gly858Val)
n.3157G>T
c.1625G>T (p.Gly542Val)
c.1115G>T (p.Gly372Val)
c.*1571G>T (n.*1571G>T)
c.2969G>T (p.Gly990Val)
c.2951G>T (p.Gly984Val)
 gnomAD v4
22g.50720805_50720808delinsGTCCCA2411007837SHANK3c.2573_2576delinsGTCC (p.Gly858=)
n.3157_3160delinsGTCC
c.1625_1628delinsGTCC (p.Gly542=)
c.1115_1118delinsGTCC (p.Gly372=)
c.*1571_*1574delinsGTCC (n.*1571_*1574delinsGTCC)
c.2969_2972delinsGTCC (p.Gly990=)
c.2951_2954delinsGTCC (p.Gly984=)
22g.50720806T>ACA515260344SHANK3c.2574T>A (p.Gly858=)
n.3158T>A
c.1626T>A (p.Gly542=)
c.1116T>A (p.Gly372=)
c.*1572T>A (n.*1572T>A)
c.2970T>A (p.Gly990=)
c.2952T>A (p.Gly984=)
 gnomAD v4
22g.50720806T>CCA515260345SHANK3c.2574T>C (p.Gly858=)
n.3158T>C
c.1626T>C (p.Gly542=)
c.1116T>C (p.Gly372=)
c.*1572T>C (n.*1572T>C)
c.2970T>C (p.Gly990=)
c.2952T>C (p.Gly984=)
 gnomAD v4
22g.50720806T>GCA515260346SHANK3c.2574T>G (p.Gly858=)
n.3158T>G
c.1626T>G (p.Gly542=)
c.1116T>G (p.Gly372=)
c.*1572T>G (n.*1572T>G)
c.2970T>G (p.Gly990=)
c.2952T>G (p.Gly984=)
22g.50720806_50720808delCA640358970SHANK3c.2574_2576del (p.Pro859del)
n.3158_3160del
c.1626_1628del (p.Pro543del)
c.1116_1118del (p.Pro373del)
c.*1572_*1574del (n.*1572_*1574del)
c.2970_2972del (p.Pro991del)
c.2952_2954del (p.Pro985del)
 dbSNP gnomAD v2
22g.50720807C>ACA515260347SHANK3c.2575C>A (p.Pro859Thr)
n.3159C>A
c.1627C>A (p.Pro543Thr)
c.1117C>A (p.Pro373Thr)
c.*1573C>A (n.*1573C>A)
c.2971C>A (p.Pro991Thr)
c.2953C>A (p.Pro985Thr)
 gnomAD v4
22g.50720807C=CA2411007838SHANK3c.2575C= (p.Pro859=)
n.3159C=
c.1627C= (p.Pro543=)
c.1117C= (p.Pro373=)
c.*1573C= (n.*1573C=)
c.2971C= (p.Pro991=)
c.2953C= (p.Pro985=)
22g.50720807C>GCA515260348SHANK3c.2575C>G (p.Pro859Ala)
n.3159C>G
c.1627C>G (p.Pro543Ala)
c.1117C>G (p.Pro373Ala)
c.*1573C>G (n.*1573C>G)
c.2971C>G (p.Pro991Ala)
c.2953C>G (p.Pro985Ala)
 gnomAD v4
22g.50720807C>TCA515260349SHANK3c.2575C>T (p.Pro859Ser)
n.3159C>T
c.1627C>T (p.Pro543Ser)
c.1117C>T (p.Pro373Ser)
c.*1573C>T (n.*1573C>T)
c.2971C>T (p.Pro991Ser)
c.2953C>T (p.Pro985Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720808C>ACA515260350SHANK3c.2576C>A (p.Pro859Gln)
n.3160C>A
c.1628C>A (p.Pro543Gln)
c.1118C>A (p.Pro373Gln)
c.*1574C>A (n.*1574C>A)
c.2972C>A (p.Pro991Gln)
c.2954C>A (p.Pro985Gln)
 gnomAD v4
22g.50720808C=CA2411007839SHANK3c.2576C= (p.Pro859=)
n.3160C=
c.1628C= (p.Pro543=)
c.1118C= (p.Pro373=)
c.*1574C= (n.*1574C=)
c.2972C= (p.Pro991=)
c.2954C= (p.Pro985=)
22g.50720808C>GCA515260352SHANK3c.2576C>G (p.Pro859Arg)
n.3160C>G
c.1628C>G (p.Pro543Arg)
c.1118C>G (p.Pro373Arg)
c.*1574C>G (n.*1574C>G)
c.2972C>G (p.Pro991Arg)
c.2954C>G (p.Pro985Arg)
 gnomAD v4
22g.50720808C>TCA515260351SHANK3c.2576C>T (p.Pro859Leu)
n.3160C>T
c.1628C>T (p.Pro543Leu)
c.1118C>T (p.Pro373Leu)
c.*1574C>T (n.*1574C>T)
c.2972C>T (p.Pro991Leu)
c.2954C>T (p.Pro985Leu)
 dbSNP gnomAD v4
22g.50720809G>ACA515260353SHANK3c.2577G>A (p.Pro859=)
n.3161G>A
c.1629G>A (p.Pro543=)
c.1119G>A (p.Pro373=)
c.*1575G>A (n.*1575G>A)
c.2973G>A (p.Pro991=)
c.2955G>A (p.Pro985=)
 dbSNP gnomAD v4
22g.50720809G>CCA515260354SHANK3c.2577G>C (p.Pro859=)
n.3161G>C
c.1629G>C (p.Pro543=)
c.1119G>C (p.Pro373=)
c.*1575G>C (n.*1575G>C)
c.2973G>C (p.Pro991=)
c.2955G>C (p.Pro985=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720809G=CA2411007840SHANK3c.2577G= (p.Pro859=)
n.3161G=
c.1629G= (p.Pro543=)
c.1119G= (p.Pro373=)
c.*1575G= (n.*1575G=)
c.2973G= (p.Pro991=)
c.2955G= (p.Pro985=)
22g.50720809G>TCA515260355SHANK3c.2577G>T (p.Pro859=)
n.3161G>T
c.1629G>T (p.Pro543=)
c.1119G>T (p.Pro373=)
c.*1575G>T (n.*1575G>T)
c.2973G>T (p.Pro991=)
c.2955G>T (p.Pro985=)
 gnomAD v4
22g.50720810C>ACA515260356SHANK3c.2578C>A (p.Arg860Ser)
n.3162C>A
c.1630C>A (p.Arg544Ser)
c.1120C>A (p.Arg374Ser)
c.*1576C>A (n.*1576C>A)
c.2974C>A (p.Arg992Ser)
c.2956C>A (p.Arg986Ser)
 ClinVar dbSNP gnomAD v4
22g.50720810C=CA2411007841SHANK3c.2578C= (p.Arg860=)
n.3162C=
c.1630C= (p.Arg544=)
c.1120C= (p.Arg374=)
c.*1576C= (n.*1576C=)
c.2974C= (p.Arg992=)
c.2956C= (p.Arg986=)
22g.50720810C>GCA515260357SHANK3c.2578C>G (p.Arg860Gly)
n.3162C>G
c.1630C>G (p.Arg544Gly)
c.1120C>G (p.Arg374Gly)
c.*1576C>G (n.*1576C>G)
c.2974C>G (p.Arg992Gly)
c.2956C>G (p.Arg986Gly)
22g.50720810C>TCA515260358SHANK3c.2578C>T (p.Arg860Cys)
n.3162C>T
c.1630C>T (p.Arg544Cys)
c.1120C>T (p.Arg374Cys)
c.*1576C>T (n.*1576C>T)
c.2974C>T (p.Arg992Cys)
c.2956C>T (p.Arg986Cys)
 dbSNP gnomAD v3 gnomAD v4
22g.50720811G>ACA515260359SHANK3c.2579G>A (p.Arg860His)
n.3163G>A
c.1631G>A (p.Arg544His)
c.1121G>A (p.Arg374His)
c.*1577G>A (n.*1577G>A)
c.2975G>A (p.Arg992His)
c.2957G>A (p.Arg986His)
 gnomAD v4
22g.50720811G>CCA515260360SHANK3c.2579G>C (p.Arg860Pro)
n.3163G>C
c.1631G>C (p.Arg544Pro)
c.1121G>C (p.Arg374Pro)
c.*1577G>C (n.*1577G>C)
c.2975G>C (p.Arg992Pro)
c.2957G>C (p.Arg986Pro)
22g.50720811G>TCA515260361SHANK3c.2579G>T (p.Arg860Leu)
n.3163G>T
c.1631G>T (p.Arg544Leu)
c.1121G>T (p.Arg374Leu)
c.*1577G>T (n.*1577G>T)
c.2975G>T (p.Arg992Leu)
c.2957G>T (p.Arg986Leu)
 gnomAD v4
22g.50720812C>ACA515260362SHANK3c.2580C>A (p.Arg860=)
n.3164C>A
c.1632C>A (p.Arg544=)
c.1122C>A (p.Arg374=)
c.*1578C>A (n.*1578C>A)
c.2976C>A (p.Arg992=)
c.2958C>A (p.Arg986=)
 gnomAD v4
22g.50720812C>GCA515260363SHANK3c.2580C>G (p.Arg860=)
n.3164C>G
c.1632C>G (p.Arg544=)
c.1122C>G (p.Arg374=)
c.*1578C>G (n.*1578C>G)
c.2976C>G (p.Arg992=)
c.2958C>G (p.Arg986=)
22g.50720812C>TCA515260364SHANK3c.2580C>T (p.Arg860=)
n.3164C>T
c.1632C>T (p.Arg544=)
c.1122C>T (p.Arg374=)
c.*1578C>T (n.*1578C>T)
c.2976C>T (p.Arg992=)
c.2958C>T (p.Arg986=)
 gnomAD v4
22g.50720814delCA2819316074SHANK3c.2582del (p.Pro861ArgfsTer?)
n.3166del
c.1634del (p.Pro545ArgfsTer?)
c.1124del (p.Pro375ArgfsTer?)
c.*1580del (n.*1580del)
c.2978del (p.Pro993ArgfsTer?)
c.2960del (p.Pro987ArgfsTer?)
22g.50720813C>ACA515260367SHANK3c.2581C>A (p.Pro861Thr)
n.3165C>A
c.1633C>A (p.Pro545Thr)
c.1123C>A (p.Pro375Thr)
c.*1579C>A (n.*1579C>A)
c.2977C>A (p.Pro993Thr)
c.2959C>A (p.Pro987Thr)
 gnomAD v4
22g.50720813C=CA2411007842SHANK3c.2581C= (p.Pro861=)
n.3165C=
c.1633C= (p.Pro545=)
c.1123C= (p.Pro375=)
c.*1579C= (n.*1579C=)
c.2977C= (p.Pro993=)
c.2959C= (p.Pro987=)
22g.50720813C>GCA515260366SHANK3c.2581C>G (p.Pro861Ala)
n.3165C>G
c.1633C>G (p.Pro545Ala)
c.1123C>G (p.Pro375Ala)
c.*1579C>G (n.*1579C>G)
c.2977C>G (p.Pro993Ala)
c.2959C>G (p.Pro987Ala)
22g.50720813C>TCA515260365SHANK3c.2581C>T (p.Pro861Ser)
n.3165C>T
c.1633C>T (p.Pro545Ser)
c.1123C>T (p.Pro375Ser)
c.*1579C>T (n.*1579C>T)
c.2977C>T (p.Pro993Ser)
c.2959C>T (p.Pro987Ser)
 dbSNP gnomAD v4
22g.50720814C>ACA515260368SHANK3c.2582C>A (p.Pro861Gln)
n.3166C>A
c.1634C>A (p.Pro545Gln)
c.1124C>A (p.Pro375Gln)
c.*1580C>A (n.*1580C>A)
c.2978C>A (p.Pro993Gln)
c.2960C>A (p.Pro987Gln)
 gnomAD v4
22g.50720814C=CA2411007843SHANK3c.2582C= (p.Pro861=)
n.3166C=
c.1634C= (p.Pro545=)
c.1124C= (p.Pro375=)
c.*1580C= (n.*1580C=)
c.2978C= (p.Pro993=)
c.2960C= (p.Pro987=)
22g.50720814C>GCA515260369SHANK3c.2582C>G (p.Pro861Arg)
n.3166C>G
c.1634C>G (p.Pro545Arg)
c.1124C>G (p.Pro375Arg)
c.*1580C>G (n.*1580C>G)
c.2978C>G (p.Pro993Arg)
c.2960C>G (p.Pro987Arg)
 dbSNP gnomAD v3 gnomAD v4
22g.50720814C>TCA325578308SHANK3c.2582C>T (p.Pro861Leu)
n.3166C>T
c.1634C>T (p.Pro545Leu)
c.1124C>T (p.Pro375Leu)
c.*1580C>T (n.*1580C>T)
c.2978C>T (p.Pro993Leu)
c.2960C>T (p.Pro987Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.50720814_50720815delinsCGCA2411007844SHANK3c.2582_2583delinsCG (p.Pro861=)
n.3166_3167delinsCG
c.1634_1635delinsCG (p.Pro545=)
c.1124_1125delinsCG (p.Pro375=)
c.*1580_*1581delinsCG (n.*1580_*1581delinsCG)
c.2978_2979delinsCG (p.Pro993=)
c.2960_2961delinsCG (p.Pro987=)
22g.50720815G>ACA515260370SHANK3c.2583G>A (p.Pro861=)
n.3167G>A
c.1635G>A (p.Pro545=)
c.1125G>A (p.Pro375=)
c.*1581G>A (n.*1581G>A)
c.2979G>A (p.Pro993=)
c.2961G>A (p.Pro987=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720815G>CCA515260371SHANK3c.2583G>C (p.Pro861=)
n.3167G>C
c.1635G>C (p.Pro545=)
c.1125G>C (p.Pro375=)
c.*1581G>C (n.*1581G>C)
c.2979G>C (p.Pro993=)
c.2961G>C (p.Pro987=)
 dbSNP
22g.50720815G=CA2411007845SHANK3c.2583G= (p.Pro861=)
n.3167G=
c.1635G= (p.Pro545=)
c.1125G= (p.Pro375=)
c.*1581G= (n.*1581G=)
c.2979G= (p.Pro993=)
c.2961G= (p.Pro987=)
22g.50720815G>TCA515260372SHANK3c.2583G>T (p.Pro861=)
n.3167G>T
c.1635G>T (p.Pro545=)
c.1125G>T (p.Pro375=)
c.*1581G>T (n.*1581G>T)
c.2979G>T (p.Pro993=)
c.2961G>T (p.Pro987=)
 gnomAD v4
22g.50720817delCA1139667201SHANK3c.2585del (p.Gly862ValfsTer?)
n.3169del
c.1637del (p.Gly546ValfsTer?)
c.1127del (p.Gly376ValfsTer?)
c.*1583del (n.*1583del)
c.2981del (p.Gly994ValfsTer?)
c.2963del (p.Gly988ValfsTer?)
 ClinVar dbSNP gnomAD v4
22g.50720816G>ACA515260373SHANK3c.2584G>A (p.Gly862Ser)
n.3168G>A
c.1636G>A (p.Gly546Ser)
c.1126G>A (p.Gly376Ser)
c.*1582G>A (n.*1582G>A)
c.2980G>A (p.Gly994Ser)
c.2962G>A (p.Gly988Ser)
 gnomAD v4
22g.50720816G>CCA515260374SHANK3c.2584G>C (p.Gly862Arg)
n.3168G>C
c.1636G>C (p.Gly546Arg)
c.1126G>C (p.Gly376Arg)
c.*1582G>C (n.*1582G>C)
c.2980G>C (p.Gly994Arg)
c.2962G>C (p.Gly988Arg)
 gnomAD v4
22g.50720816G>TCA515260375SHANK3c.2584G>T (p.Gly862Cys)
n.3168G>T
c.1636G>T (p.Gly546Cys)
c.1126G>T (p.Gly376Cys)
c.*1582G>T (n.*1582G>T)
c.2980G>T (p.Gly994Cys)
c.2962G>T (p.Gly988Cys)
 gnomAD v4
22g.50720817G>ACA515260376SHANK3c.2585G>A (p.Gly862Asp)
n.3169G>A
c.1637G>A (p.Gly546Asp)
c.1127G>A (p.Gly376Asp)
c.*1583G>A (n.*1583G>A)
c.2981G>A (p.Gly994Asp)
c.2963G>A (p.Gly988Asp)
 gnomAD v4
22g.50720817G>CCA515260377SHANK3c.2585G>C (p.Gly862Ala)
n.3169G>C
c.1637G>C (p.Gly546Ala)
c.1127G>C (p.Gly376Ala)
c.*1583G>C (n.*1583G>C)
c.2981G>C (p.Gly994Ala)
c.2963G>C (p.Gly988Ala)
 gnomAD v4
22g.50720817G>TCA515260378SHANK3c.2585G>T (p.Gly862Val)
n.3169G>T
c.1637G>T (p.Gly546Val)
c.1127G>T (p.Gly376Val)
c.*1583G>T (n.*1583G>T)
c.2981G>T (p.Gly994Val)
c.2963G>T (p.Gly988Val)
 gnomAD v4
22g.50720818T>ACA515260379SHANK3c.2586T>A (p.Gly862=)
n.3170T>A
c.1638T>A (p.Gly546=)
c.1128T>A (p.Gly376=)
c.*1584T>A (n.*1584T>A)
c.2982T>A (p.Gly994=)
c.2964T>A (p.Gly988=)
22g.50720818T>CCA515260381SHANK3c.2586T>C (p.Gly862=)
n.3170T>C
c.1638T>C (p.Gly546=)
c.1128T>C (p.Gly376=)
c.*1584T>C (n.*1584T>C)
c.2982T>C (p.Gly994=)
c.2964T>C (p.Gly988=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720818T>GCA515260380SHANK3c.2586T>G (p.Gly862=)
n.3170T>G
c.1638T>G (p.Gly546=)
c.1128T>G (p.Gly376=)
c.*1584T>G (n.*1584T>G)
c.2982T>G (p.Gly994=)
c.2964T>G (p.Gly988=)
 dbSNP
22g.50720818T=CA2411007846SHANK3c.2586T= (p.Gly862=)
n.3170T=
c.1638T= (p.Gly546=)
c.1128T= (p.Gly376=)
c.*1584T= (n.*1584T=)
c.2982T= (p.Gly994=)
c.2964T= (p.Gly988=)
22g.50720819G>ACA515260382SHANK3c.2587G>A (p.Gly863Ser)
n.3171G>A
c.1639G>A (p.Gly547Ser)
c.1129G>A (p.Gly377Ser)
c.*1585G>A (n.*1585G>A)
c.2983G>A (p.Gly995Ser)
c.2965G>A (p.Gly989Ser)
 gnomAD v4
22g.50720819G>CCA515260384SHANK3c.2587G>C (p.Gly863Arg)
n.3171G>C
c.1639G>C (p.Gly547Arg)
c.1129G>C (p.Gly377Arg)
c.*1585G>C (n.*1585G>C)
c.2983G>C (p.Gly995Arg)
c.2965G>C (p.Gly989Arg)
 gnomAD v4
22g.50720819G>TCA515260383SHANK3c.2587G>T (p.Gly863Cys)
n.3171G>T
c.1639G>T (p.Gly547Cys)
c.1129G>T (p.Gly377Cys)
c.*1585G>T (n.*1585G>T)
c.2983G>T (p.Gly995Cys)
c.2965G>T (p.Gly989Cys)
 gnomAD v4
22g.50720820delCA2657583413SHANK3c.2588del (p.Gly863AlafsTer?)
n.3172del
c.1640del (p.Gly547AlafsTer?)
c.1130del (p.Gly377AlafsTer?)
c.*1586del (n.*1586del)
c.2984del (p.Gly995AlafsTer?)
c.2966del (p.Gly989AlafsTer?)
 gnomAD v4
22g.50720820G>ACA515260385SHANK3c.2588G>A (p.Gly863Asp)
n.3172G>A
c.1640G>A (p.Gly547Asp)
c.1130G>A (p.Gly377Asp)
c.*1586G>A (n.*1586G>A)
c.2984G>A (p.Gly995Asp)
c.2966G>A (p.Gly989Asp)
 gnomAD v4
22g.50720820G>CCA515260386SHANK3c.2588G>C (p.Gly863Ala)
n.3172G>C
c.1640G>C (p.Gly547Ala)
c.1130G>C (p.Gly377Ala)
c.*1586G>C (n.*1586G>C)
c.2984G>C (p.Gly995Ala)
c.2966G>C (p.Gly989Ala)
22g.50720820G=CA2411007847SHANK3c.2588G= (p.Gly863=)
n.3172G=
c.1640G= (p.Gly547=)
c.1130G= (p.Gly377=)
c.*1586G= (n.*1586G=)
c.2984G= (p.Gly995=)
c.2966G= (p.Gly989=)
22g.50720820G>TCA325578326SHANK3c.2588G>T (p.Gly863Val)
n.3172G>T
c.1640G>T (p.Gly547Val)
c.1130G>T (p.Gly377Val)
c.*1586G>T (n.*1586G>T)
c.2984G>T (p.Gly995Val)
c.2966G>T (p.Gly989Val)
 dbSNP gnomAD v4
22g.50720821C>ACA515260387SHANK3c.2589C>A (p.Gly863=)
n.3173C>A
c.1641C>A (p.Gly547=)
c.1131C>A (p.Gly377=)
c.*1587C>A (n.*1587C>A)
c.2985C>A (p.Gly995=)
c.2967C>A (p.Gly989=)
 gnomAD v4
22g.50720821C=CA2411007848SHANK3c.2589C= (p.Gly863=)
n.3173C=
c.1641C= (p.Gly547=)
c.1131C= (p.Gly377=)
c.*1587C= (n.*1587C=)
c.2985C= (p.Gly995=)
c.2967C= (p.Gly989=)
22g.50720821C>GCA515260388SHANK3c.2589C>G (p.Gly863=)
n.3173C>G
c.1641C>G (p.Gly547=)
c.1131C>G (p.Gly377=)
c.*1587C>G (n.*1587C>G)
c.2985C>G (p.Gly995=)
c.2967C>G (p.Gly989=)
 gnomAD v4
22g.50720821C>TCA515260389SHANK3c.2589C>T (p.Gly863=)
n.3173C>T
c.1641C>T (p.Gly547=)
c.1131C>T (p.Gly377=)
c.*1587C>T (n.*1587C>T)
c.2985C>T (p.Gly995=)
c.2967C>T (p.Gly989=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720822C>ACA515260390SHANK3c.2590C>A (p.Leu864Ile)
n.3174C>A
c.1642C>A (p.Leu548Ile)
c.1132C>A (p.Leu378Ile)
c.*1588C>A (n.*1588C>A)
c.2986C>A (p.Leu996Ile)
c.2968C>A (p.Leu990Ile)
 gnomAD v4
22g.50720822C=CA2411007849SHANK3c.2590C= (p.Leu864=)
n.3174C=
c.1642C= (p.Leu548=)
c.1132C= (p.Leu378=)
c.*1588C= (n.*1588C=)
c.2986C= (p.Leu996=)
c.2968C= (p.Leu990=)
22g.50720822C>GCA515260391SHANK3c.2590C>G (p.Leu864Val)
n.3174C>G
c.1642C>G (p.Leu548Val)
c.1132C>G (p.Leu378Val)
c.*1588C>G (n.*1588C>G)
c.2986C>G (p.Leu996Val)
c.2968C>G (p.Leu990Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720822C>TCA515260392SHANK3c.2590C>T (p.Leu864Phe)
n.3174C>T
c.1642C>T (p.Leu548Phe)
c.1132C>T (p.Leu378Phe)
c.*1588C>T (n.*1588C>T)
c.2986C>T (p.Leu996Phe)
c.2968C>T (p.Leu990Phe)
 dbSNP gnomAD v4
22g.50720823T>ACA515260393SHANK3c.2591T>A (p.Leu864His)
n.3175T>A
c.1643T>A (p.Leu548His)
c.1133T>A (p.Leu378His)
c.*1589T>A (n.*1589T>A)
c.2987T>A (p.Leu996His)
c.2969T>A (p.Leu990His)
22g.50720823T>CCA515260394SHANK3c.2591T>C (p.Leu864Pro)
n.3175T>C
c.1643T>C (p.Leu548Pro)
c.1133T>C (p.Leu378Pro)
c.*1589T>C (n.*1589T>C)
c.2987T>C (p.Leu996Pro)
c.2969T>C (p.Leu990Pro)
 dbSNP gnomAD v4
22g.50720823T>GCA515260395SHANK3c.2591T>G (p.Leu864Arg)
n.3175T>G
c.1643T>G (p.Leu548Arg)
c.1133T>G (p.Leu378Arg)
c.*1589T>G (n.*1589T>G)
c.2987T>G (p.Leu996Arg)
c.2969T>G (p.Leu990Arg)
22g.50720823T=CA2411007850SHANK3c.2591T= (p.Leu864=)
n.3175T=
c.1643T= (p.Leu548=)
c.1133T= (p.Leu378=)
c.*1589T= (n.*1589T=)
c.2987T= (p.Leu996=)
c.2969T= (p.Leu990=)
22g.50720824C>ACA515260396SHANK3c.2592C>A (p.Leu864=)
n.3176C>A
c.1644C>A (p.Leu548=)
c.1134C>A (p.Leu378=)
c.*1590C>A (n.*1590C>A)
c.2988C>A (p.Leu996=)
c.2970C>A (p.Leu990=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50720824C=CA2411007851SHANK3c.2592C= (p.Leu864=)
n.3176C=
c.1644C= (p.Leu548=)
c.1134C= (p.Leu378=)
c.*1590C= (n.*1590C=)
c.2988C= (p.Leu996=)
c.2970C= (p.Leu990=)
22g.50720824C>GCA515260398SHANK3c.2592C>G (p.Leu864=)
n.3176C>G
c.1644C>G (p.Leu548=)
c.1134C>G (p.Leu378=)
c.*1590C>G (n.*1590C>G)
c.2988C>G (p.Leu996=)
c.2970C>G (p.Leu990=)
 dbSNP gnomAD v4
22g.50720824C>TCA515260397SHANK3c.2592C>T (p.Leu864=)
n.3176C>T
c.1644C>T (p.Leu548=)
c.1134C>T (p.Leu378=)
c.*1590C>T (n.*1590C>T)
c.2988C>T (p.Leu996=)
c.2970C>T (p.Leu990=)
 dbSNP gnomAD v4
22g.50720825G>ACA515260399SHANK3c.2593G>A (p.Asp865Asn)
n.3177G>A
c.1645G>A (p.Asp549Asn)
c.1135G>A (p.Asp379Asn)
c.*1591G>A (n.*1591G>A)
c.2989G>A (p.Asp997Asn)
c.2971G>A (p.Asp991Asn)
 gnomAD v4
22g.50720825G>CCA515260400SHANK3c.2593G>C (p.Asp865His)
n.3177G>C
c.1645G>C (p.Asp549His)
c.1135G>C (p.Asp379His)
c.*1591G>C (n.*1591G>C)
c.2989G>C (p.Asp997His)
c.2971G>C (p.Asp991His)
 gnomAD v4
22g.50720825G>TCA515260401SHANK3c.2593G>T (p.Asp865Tyr)
n.3177G>T
c.1645G>T (p.Asp549Tyr)
c.1135G>T (p.Asp379Tyr)
c.*1591G>T (n.*1591G>T)
c.2989G>T (p.Asp997Tyr)
c.2971G>T (p.Asp991Tyr)
 gnomAD v4
22g.50720826A>CCA515260402SHANK3c.2594A>C (p.Asp865Ala)
n.3178A>C
c.1646A>C (p.Asp549Ala)
c.1136A>C (p.Asp379Ala)
c.*1592A>C (n.*1592A>C)
c.2990A>C (p.Asp997Ala)
c.2972A>C (p.Asp991Ala)
22g.50720826A>GCA515260403SHANK3c.2594A>G (p.Asp865Gly)
n.3178A>G
c.1646A>G (p.Asp549Gly)
c.1136A>G (p.Asp379Gly)
c.*1592A>G (n.*1592A>G)
c.2990A>G (p.Asp997Gly)
c.2972A>G (p.Asp991Gly)
22g.50720826A>TCA515260404SHANK3c.2594A>T (p.Asp865Val)
n.3178A>T
c.1646A>T (p.Asp549Val)
c.1136A>T (p.Asp379Val)
c.*1592A>T (n.*1592A>T)
c.2990A>T (p.Asp997Val)
c.2972A>T (p.Asp991Val)
22g.50720827C>ACA515260405SHANK3c.2595C>A (p.Asp865Glu)
n.3179C>A
c.1647C>A (p.Asp549Glu)
c.1137C>A (p.Asp379Glu)
c.*1593C>A (n.*1593C>A)
c.2991C>A (p.Asp997Glu)
c.2973C>A (p.Asp991Glu)
 gnomAD v4
22g.50720827C=CA2411007852SHANK3c.2595C= (p.Asp865=)
n.3179C=
c.1647C= (p.Asp549=)
c.1137C= (p.Asp379=)
c.*1593C= (n.*1593C=)
c.2991C= (p.Asp997=)
c.2973C= (p.Asp991=)
22g.50720827C>GCA515260406SHANK3c.2595C>G (p.Asp865Glu)
n.3179C>G
c.1647C>G (p.Asp549Glu)
c.1137C>G (p.Asp379Glu)
c.*1593C>G (n.*1593C>G)
c.2991C>G (p.Asp997Glu)
c.2973C>G (p.Asp991Glu)
 dbSNP gnomAD v4
22g.50720827C>TCA515260407SHANK3c.2595C>T (p.Asp865=)
n.3179C>T
c.1647C>T (p.Asp549=)
c.1137C>T (p.Asp379=)
c.*1593C>T (n.*1593C>T)
c.2991C>T (p.Asp997=)
c.2973C>T (p.Asp991=)
 gnomAD v4
22g.50720828T>ACA515260409SHANK3c.2596T>A (p.Tyr866Asn)
n.3180T>A
c.1648T>A (p.Tyr550Asn)
c.1138T>A (p.Tyr380Asn)
c.*1594T>A (n.*1594T>A)
c.2992T>A (p.Tyr998Asn)
c.2974T>A (p.Tyr992Asn)
22g.50720828T>CCA515260410SHANK3c.2596T>C (p.Tyr866His)
n.3180T>C
c.1648T>C (p.Tyr550His)
c.1138T>C (p.Tyr380His)
c.*1594T>C (n.*1594T>C)
c.2992T>C (p.Tyr998His)
c.2974T>C (p.Tyr992His)
 gnomAD v4
22g.50720828T>GCA515260408SHANK3c.2596T>G (p.Tyr866Asp)
n.3180T>G
c.1648T>G (p.Tyr550Asp)
c.1138T>G (p.Tyr380Asp)
c.*1594T>G (n.*1594T>G)
c.2992T>G (p.Tyr998Asp)
c.2974T>G (p.Tyr992Asp)
22g.50720829A=CA2411007853SHANK3c.2597A= (p.Tyr866=)
n.3181A=
c.1649A= (p.Tyr550=)
c.1139A= (p.Tyr380=)
c.*1595A= (n.*1595A=)
c.2993A= (p.Tyr998=)
c.2975A= (p.Tyr992=)
22g.50720829A>CCA515260411SHANK3c.2597A>C (p.Tyr866Ser)
n.3181A>C
c.1649A>C (p.Tyr550Ser)
c.1139A>C (p.Tyr380Ser)
c.*1595A>C (n.*1595A>C)
c.2993A>C (p.Tyr998Ser)
c.2975A>C (p.Tyr992Ser)
 gnomAD v3 gnomAD v4
22g.50720829A>GCA515260412SHANK3c.2597A>G (p.Tyr866Cys)
n.3181A>G
c.1649A>G (p.Tyr550Cys)
c.1139A>G (p.Tyr380Cys)
c.*1595A>G (n.*1595A>G)
c.2993A>G (p.Tyr998Cys)
c.2975A>G (p.Tyr992Cys)
 gnomAD v4
22g.50720829A>TCA515260413SHANK3c.2597A>T (p.Tyr866Phe)
n.3181A>T
c.1649A>T (p.Tyr550Phe)
c.1139A>T (p.Tyr380Phe)
c.*1595A>T (n.*1595A>T)
c.2993A>T (p.Tyr998Phe)
c.2975A>T (p.Tyr992Phe)
22g.50720830delCA2657583414SHANK3c.2598del (p.Tyr866Ter)
n.3182del
c.1650del (p.Tyr550Ter)
c.1140del (p.Tyr380Ter)
c.*1596del (n.*1596del)
c.2994del (p.Tyr998Ter)
c.2976del (p.Tyr992Ter)
 gnomAD v4
22g.50720830C>ACA515260414SHANK3c.2598C>A (p.Tyr866Ter)
n.3182C>A
c.1650C>A (p.Tyr550Ter)
c.1140C>A (p.Tyr380Ter)
c.*1596C>A (n.*1596C>A)
c.2994C>A (p.Tyr998Ter)
c.2976C>A (p.Tyr992Ter)
 gnomAD v4
22g.50720830C=CA2411007854SHANK3c.2598C= (p.Tyr866=)
n.3182C=
c.1650C= (p.Tyr550=)
c.1140C= (p.Tyr380=)
c.*1596C= (n.*1596C=)
c.2994C= (p.Tyr998=)
c.2976C= (p.Tyr992=)
22g.50720830C>GCA515260415SHANK3c.2598C>G (p.Tyr866Ter)
n.3182C>G
c.1650C>G (p.Tyr550Ter)
c.1140C>G (p.Tyr380Ter)
c.*1596C>G (n.*1596C>G)
c.2994C>G (p.Tyr998Ter)
c.2976C>G (p.Tyr992Ter)
22g.50720830C>TCA10325943SHANK3c.2598C>T (p.Tyr866=)
n.3182C>T
c.1650C>T (p.Tyr550=)
c.1140C>T (p.Tyr380=)
c.*1596C>T (n.*1596C>T)
c.2994C>T (p.Tyr998=)
c.2976C>T (p.Tyr992=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.50720834_50720866dupCA1026672084SHANK3c.2602_2634dup (p.Gly878_Pro879insAlaGlyAspGlyProGlyLeuAlaPheGlyGly)
n.3186_3218dup
c.1654_1686dup (p.Gly562_Pro563insAlaGlyAspGlyProGlyLeuAlaPheGlyGly)
c.1144_1176dup (p.Gly392_Pro393insAlaGlyAspGlyProGlyLeuAlaPheGlyGly)
c.*1600_*1632dup (n.*1600_*1632dup)
c.2998_3030dup (p.Gly1010_Pro1011insAlaGlyAspGlyProGlyLeuAlaPheGlyGly)
c.2980_3012dup (p.Gly1004_Pro1005insAlaGlyAspGlyProGlyLeuAlaPheGlyGly)
 dbSNP gnomAD v3 gnomAD v4
22g.50720831G>ACA515260416SHANK3c.2599G>A (p.Gly867Ser)
n.3183G>A
c.1651G>A (p.Gly551Ser)
c.1141G>A (p.Gly381Ser)
c.*1597G>A (n.*1597G>A)
c.2995G>A (p.Gly999Ser)
c.2977G>A (p.Gly993Ser)
 gnomAD v4 COSMIC COSMIC
22g.50720831G>CCA515260417SHANK3c.2599G>C (p.Gly867Arg)
n.3183G>C
c.1651G>C (p.Gly551Arg)
c.1141G>C (p.Gly381Arg)
c.*1597G>C (n.*1597G>C)
c.2995G>C (p.Gly999Arg)
c.2977G>C (p.Gly993Arg)
22g.50720831G>TCA515260418SHANK3c.2599G>T (p.Gly867Cys)
n.3183G>T
c.1651G>T (p.Gly551Cys)
c.1141G>T (p.Gly381Cys)
c.*1597G>T (n.*1597G>T)
c.2995G>T (p.Gly999Cys)
c.2977G>T (p.Gly993Cys)
 gnomAD v4
22g.50720834_50720845dupCA2411007855SHANK3c.2602_2613dup (p.Gly871_Pro872insAlaGlyAspGly)
n.3186_3197dup
c.1654_1665dup (p.Gly555_Pro556insAlaGlyAspGly)
c.1144_1155dup (p.Gly385_Pro386insAlaGlyAspGly)
c.*1600_*1611dup (n.*1600_*1611dup)
c.2998_3009dup (p.Gly1003_Pro1004insAlaGlyAspGly)
c.2980_2991dup (p.Gly997_Pro998insAlaGlyAspGly)
 dbSNP gnomAD v4
22g.50720832G>ACA515260419SHANK3c.2600G>A (p.Gly867Asp)
n.3184G>A
c.1652G>A (p.Gly551Asp)
c.1142G>A (p.Gly381Asp)
c.*1598G>A (n.*1598G>A)
c.2996G>A (p.Gly999Asp)
c.2978G>A (p.Gly993Asp)
 dbSNP gnomAD v4
22g.50720832G>CCA515260420SHANK3c.2600G>C (p.Gly867Ala)
n.3184G>C
c.1652G>C (p.Gly551Ala)
c.1142G>C (p.Gly381Ala)
c.*1598G>C (n.*1598G>C)
c.2996G>C (p.Gly999Ala)
c.2978G>C (p.Gly993Ala)
22g.50720832G=CA2411007856SHANK3c.2600G= (p.Gly867=)
n.3184G=
c.1652G= (p.Gly551=)
c.1142G= (p.Gly381=)
c.*1598G= (n.*1598G=)
c.2996G= (p.Gly999=)
c.2978G= (p.Gly993=)
22g.50720832G>TCA515260421SHANK3c.2600G>T (p.Gly867Val)
n.3184G>T
c.1652G>T (p.Gly551Val)
c.1142G>T (p.Gly381Val)
c.*1598G>T (n.*1598G>T)
c.2996G>T (p.Gly999Val)
c.2978G>T (p.Gly993Val)
 gnomAD v4
22g.50720833C>ACA515260424SHANK3c.2601C>A (p.Gly867=)
n.3185C>A
c.1653C>A (p.Gly551=)
c.1143C>A (p.Gly381=)
c.*1599C>A (n.*1599C>A)
c.2997C>A (p.Gly999=)
c.2979C>A (p.Gly993=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720833C=CA2411007857SHANK3c.2601C= (p.Gly867=)
n.3185C=
c.1653C= (p.Gly551=)
c.1143C= (p.Gly381=)
c.*1599C= (n.*1599C=)
c.2997C= (p.Gly999=)
c.2979C= (p.Gly993=)
22g.50720833C>GCA515260422SHANK3c.2601C>G (p.Gly867=)
n.3185C>G
c.1653C>G (p.Gly551=)
c.1143C>G (p.Gly381=)
c.*1599C>G (n.*1599C>G)
c.2997C>G (p.Gly999=)
c.2979C>G (p.Gly993=)
 gnomAD v4
22g.50720833C>TCA515260423SHANK3c.2601C>T (p.Gly867=)
n.3185C>T
c.1653C>T (p.Gly551=)
c.1143C>T (p.Gly381=)
c.*1599C>T (n.*1599C>T)
c.2997C>T (p.Gly999=)
c.2979C>T (p.Gly993=)
 gnomAD v4
22g.50720834G>ACA515260425SHANK3c.2602G>A (p.Ala868Thr)
n.3186G>A
c.1654G>A (p.Ala552Thr)
c.1144G>A (p.Ala382Thr)
c.*1600G>A (n.*1600G>A)
c.2998G>A (p.Ala1000Thr)
c.2980G>A (p.Ala994Thr)
 ClinVar dbSNP gnomAD v4
22g.50720834G>CCA515260426SHANK3c.2602G>C (p.Ala868Pro)
n.3186G>C
c.1654G>C (p.Ala552Pro)
c.1144G>C (p.Ala382Pro)
c.*1600G>C (n.*1600G>C)
c.2998G>C (p.Ala1000Pro)
c.2980G>C (p.Ala994Pro)
 gnomAD v4
22g.50720834G=CA2411007858SHANK3c.2602G= (p.Ala868=)
n.3186G=
c.1654G= (p.Ala552=)
c.1144G= (p.Ala382=)
c.*1600G= (n.*1600G=)
c.2998G= (p.Ala1000=)
c.2980G= (p.Ala994=)
22g.50720834G>TCA515260427SHANK3c.2602G>T (p.Ala868Ser)
n.3186G>T
c.1654G>T (p.Ala552Ser)
c.1144G>T (p.Ala382Ser)
c.*1600G>T (n.*1600G>T)
c.2998G>T (p.Ala1000Ser)
c.2980G>T (p.Ala994Ser)
 gnomAD v4
22g.50720835C>ACA515260428SHANK3c.2603C>A (p.Ala868Glu)
n.3187C>A
c.1655C>A (p.Ala552Glu)
c.1145C>A (p.Ala382Glu)
c.*1601C>A (n.*1601C>A)
c.2999C>A (p.Ala1000Glu)
c.2981C>A (p.Ala994Glu)
 gnomAD v4
22g.50720835C=CA2411007859SHANK3c.2603C= (p.Ala868=)
n.3187C=
c.1655C= (p.Ala552=)
c.1145C= (p.Ala382=)
c.*1601C= (n.*1601C=)
c.2999C= (p.Ala1000=)
c.2981C= (p.Ala994=)
22g.50720835C>GCA515260429SHANK3c.2603C>G (p.Ala868Gly)
n.3187C>G
c.1655C>G (p.Ala552Gly)
c.1145C>G (p.Ala382Gly)
c.*1601C>G (n.*1601C>G)
c.2999C>G (p.Ala1000Gly)
c.2981C>G (p.Ala994Gly)
 gnomAD v4
22g.50720835C>TCA325578365SHANK3c.2603C>T (p.Ala868Val)
n.3187C>T
c.1655C>T (p.Ala552Val)
c.1145C>T (p.Ala382Val)
c.*1601C>T (n.*1601C>T)
c.2999C>T (p.Ala1000Val)
c.2981C>T (p.Ala994Val)
 dbSNP gnomAD v3 gnomAD v4
22g.50720839_50720850delCA2657583415SHANK3c.2607_2618del (p.Asp870_Gly873del)
n.3191_3202del
c.1659_1670del (p.Asp554_Gly557del)
c.1149_1160del (p.Asp384_Gly387del)
c.*1605_*1616del (n.*1605_*1616del)
c.3003_3014del (p.Asp1002_Gly1005del)
c.2985_2996del (p.Asp996_Gly999del)
 gnomAD v4
22g.50720836G>ACA515260430SHANK3c.2604G>A (p.Ala868=)
n.3188G>A
c.1656G>A (p.Ala552=)
c.1146G>A (p.Ala382=)
c.*1602G>A (n.*1602G>A)
c.3000G>A (p.Ala1000=)
c.2982G>A (p.Ala994=)
 dbSNP gnomAD v4
22g.50720836G>CCA515260431SHANK3c.2604G>C (p.Ala868=)
n.3188G>C
c.1656G>C (p.Ala552=)
c.1146G>C (p.Ala382=)
c.*1602G>C (n.*1602G>C)
c.3000G>C (p.Ala1000=)
c.2982G>C (p.Ala994=)
22g.50720836G=CA2411007860SHANK3c.2604G= (p.Ala868=)
n.3188G=
c.1656G= (p.Ala552=)
c.1146G= (p.Ala382=)
c.*1602G= (n.*1602G=)
c.3000G= (p.Ala1000=)
c.2982G= (p.Ala994=)
22g.50720836G>TCA515260432SHANK3c.2604G>T (p.Ala868=)
n.3188G>T
c.1656G>T (p.Ala552=)
c.1146G>T (p.Ala382=)
c.*1602G>T (n.*1602G>T)
c.3000G>T (p.Ala1000=)
c.2982G>T (p.Ala994=)
 gnomAD v4
22g.50720837G>ACA515260433SHANK3c.2605G>A (p.Gly869Ser)
n.3189G>A
c.1657G>A (p.Gly553Ser)
c.1147G>A (p.Gly383Ser)
c.*1603G>A (n.*1603G>A)
c.3001G>A (p.Gly1001Ser)
c.2983G>A (p.Gly995Ser)
 gnomAD v4
22g.50720837G>CCA515260434SHANK3c.2605G>C (p.Gly869Arg)
n.3189G>C
c.1657G>C (p.Gly553Arg)
c.1147G>C (p.Gly383Arg)
c.*1603G>C (n.*1603G>C)
c.3001G>C (p.Gly1001Arg)
c.2983G>C (p.Gly995Arg)
 gnomAD v4
22g.50720837G>TCA515260435SHANK3c.2605G>T (p.Gly869Cys)
n.3189G>T
c.1657G>T (p.Gly553Cys)
c.1147G>T (p.Gly383Cys)
c.*1603G>T (n.*1603G>T)
c.3001G>T (p.Gly1001Cys)
c.2983G>T (p.Gly995Cys)
 gnomAD v4
22g.50720838G>ACA515260438SHANK3c.2606G>A (p.Gly869Asp)
n.3190G>A
c.1658G>A (p.Gly553Asp)
c.1148G>A (p.Gly383Asp)
c.*1604G>A (n.*1604G>A)
c.3002G>A (p.Gly1001Asp)
c.2984G>A (p.Gly995Asp)
 gnomAD v4
22g.50720838G>CCA515260437SHANK3c.2606G>C (p.Gly869Ala)
n.3190G>C
c.1658G>C (p.Gly553Ala)
c.1148G>C (p.Gly383Ala)
c.*1604G>C (n.*1604G>C)
c.3002G>C (p.Gly1001Ala)
c.2984G>C (p.Gly995Ala)
22g.50720838G>TCA515260436SHANK3c.2606G>T (p.Gly869Val)
n.3190G>T
c.1658G>T (p.Gly553Val)
c.1148G>T (p.Gly383Val)
c.*1604G>T (n.*1604G>T)
c.3002G>T (p.Gly1001Val)
c.2984G>T (p.Gly995Val)
22g.50720839C>ACA515260439SHANK3c.2607C>A (p.Gly869=)
n.3191C>A
c.1659C>A (p.Gly553=)
c.1149C>A (p.Gly383=)
c.*1605C>A (n.*1605C>A)
c.3003C>A (p.Gly1001=)
c.2985C>A (p.Gly995=)
 gnomAD v4
22g.50720839C=CA2411007861SHANK3c.2607C= (p.Gly869=)
n.3191C=
c.1659C= (p.Gly553=)
c.1149C= (p.Gly383=)
c.*1605C= (n.*1605C=)
c.3003C= (p.Gly1001=)
c.2985C= (p.Gly995=)
22g.50720839C>GCA515260441SHANK3c.2607C>G (p.Gly869=)
n.3191C>G
c.1659C>G (p.Gly553=)
c.1149C>G (p.Gly383=)
c.*1605C>G (n.*1605C>G)
c.3003C>G (p.Gly1001=)
c.2985C>G (p.Gly995=)
 gnomAD v4
22g.50720839C>TCA515260440SHANK3c.2607C>T (p.Gly869=)
n.3191C>T
c.1659C>T (p.Gly553=)
c.1149C>T (p.Gly383=)
c.*1605C>T (n.*1605C>T)
c.3003C>T (p.Gly1001=)
c.2985C>T (p.Gly995=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720840G>ACA515260442SHANK3c.2608G>A (p.Asp870Asn)
n.3192G>A
c.1660G>A (p.Asp554Asn)
c.1150G>A (p.Asp384Asn)
c.*1606G>A (n.*1606G>A)
c.3004G>A (p.Asp1002Asn)
c.2986G>A (p.Asp996Asn)
 dbSNP gnomAD v4
22g.50720840G>CCA515260444SHANK3c.2608G>C (p.Asp870His)
n.3192G>C
c.1660G>C (p.Asp554His)
c.1150G>C (p.Asp384His)
c.*1606G>C (n.*1606G>C)
c.3004G>C (p.Asp1002His)
c.2986G>C (p.Asp996His)
22g.50720840G=CA2411007862SHANK3c.2608G= (p.Asp870=)
n.3192G=
c.1660G= (p.Asp554=)
c.1150G= (p.Asp384=)
c.*1606G= (n.*1606G=)
c.3004G= (p.Asp1002=)
c.2986G= (p.Asp996=)
22g.50720840G>TCA515260443SHANK3c.2608G>T (p.Asp870Tyr)
n.3192G>T
c.1660G>T (p.Asp554Tyr)
c.1150G>T (p.Asp384Tyr)
c.*1606G>T (n.*1606G>T)
c.3004G>T (p.Asp1002Tyr)
c.2986G>T (p.Asp996Tyr)
 gnomAD v4
22g.50720841A>CCA515260445SHANK3c.2609A>C (p.Asp870Ala)
n.3193A>C
c.1661A>C (p.Asp554Ala)
c.1151A>C (p.Asp384Ala)
c.*1607A>C (n.*1607A>C)
c.3005A>C (p.Asp1002Ala)
c.2987A>C (p.Asp996Ala)
 ClinVar dbSNP
22g.50720841A>GCA515260446SHANK3c.2609A>G (p.Asp870Gly)
n.3193A>G
c.1661A>G (p.Asp554Gly)
c.1151A>G (p.Asp384Gly)
c.*1607A>G (n.*1607A>G)
c.3005A>G (p.Asp1002Gly)
c.2987A>G (p.Asp996Gly)
 gnomAD v4
22g.50720841A>TCA515260447SHANK3c.2609A>T (p.Asp870Val)
n.3193A>T
c.1661A>T (p.Asp554Val)
c.1151A>T (p.Asp384Val)
c.*1607A>T (n.*1607A>T)
c.3005A>T (p.Asp1002Val)
c.2987A>T (p.Asp996Val)
22g.50720842T>ACA515260448SHANK3c.2610T>A (p.Asp870Glu)
n.3194T>A
c.1662T>A (p.Asp554Glu)
c.1152T>A (p.Asp384Glu)
c.*1608T>A (n.*1608T>A)
c.3006T>A (p.Asp1002Glu)
c.2988T>A (p.Asp996Glu)
 dbSNP
22g.50720842T>CCA515260449SHANK3c.2610T>C (p.Asp870=)
n.3194T>C
c.1662T>C (p.Asp554=)
c.1152T>C (p.Asp384=)
c.*1608T>C (n.*1608T>C)
c.3006T>C (p.Asp1002=)
c.2988T>C (p.Asp996=)
 gnomAD v4
22g.50720842T>GCA515260450SHANK3c.2610T>G (p.Asp870Glu)
n.3194T>G
c.1662T>G (p.Asp554Glu)
c.1152T>G (p.Asp384Glu)
c.*1608T>G (n.*1608T>G)
c.3006T>G (p.Asp1002Glu)
c.2988T>G (p.Asp996Glu)
 dbSNP
22g.50720843G>ACA515260451SHANK3c.2611G>A (p.Gly871Ser)
n.3195G>A
c.1663G>A (p.Gly555Ser)
c.1153G>A (p.Gly385Ser)
c.*1609G>A (n.*1609G>A)
c.3007G>A (p.Gly1003Ser)
c.2989G>A (p.Gly997Ser)
 dbSNP gnomAD v2 gnomAD v4
22g.50720843G>CCA515260452SHANK3c.2611G>C (p.Gly871Arg)
n.3195G>C
c.1663G>C (p.Gly555Arg)
c.1153G>C (p.Gly385Arg)
c.*1609G>C (n.*1609G>C)
c.3007G>C (p.Gly1003Arg)
c.2989G>C (p.Gly997Arg)
22g.50720843G=CA2411007863SHANK3c.2611G= (p.Gly871=)
n.3195G=
c.1663G= (p.Gly555=)
c.1153G= (p.Gly385=)
c.*1609G= (n.*1609G=)
c.3007G= (p.Gly1003=)
c.2989G= (p.Gly997=)
22g.50720843G>TCA515260453SHANK3c.2611G>T (p.Gly871Cys)
n.3195G>T
c.1663G>T (p.Gly555Cys)
c.1153G>T (p.Gly385Cys)
c.*1609G>T (n.*1609G>T)
c.3007G>T (p.Gly1003Cys)
c.2989G>T (p.Gly997Cys)
 gnomAD v4
22g.50720851_50720871dupCA2546940682SHANK3c.2619_2639dup (p.Gly880_Pro881insLeuAlaPheGlyGlyProGly)
n.3203_3223dup
c.1671_1691dup (p.Gly564_Pro565insLeuAlaPheGlyGlyProGly)
c.1161_1181dup (p.Gly394_Pro395insLeuAlaPheGlyGlyProGly)
c.*1617_*1637dup (n.*1617_*1637dup)
c.3015_3035dup (p.Gly1012_Pro1013insLeuAlaPheGlyGlyProGly)
c.2997_3017dup (p.Gly1006_Pro1007insLeuAlaPheGlyGlyProGly)
 gnomAD v4
22g.50720844G>ACA515260454SHANK3c.2612G>A (p.Gly871Asp)
n.3196G>A
c.1664G>A (p.Gly555Asp)
c.1154G>A (p.Gly385Asp)
c.*1610G>A (n.*1610G>A)
c.3008G>A (p.Gly1003Asp)
c.2990G>A (p.Gly997Asp)
 gnomAD v4
22g.50720844G>CCA515260455SHANK3c.2612G>C (p.Gly871Ala)
n.3196G>C
c.1664G>C (p.Gly555Ala)
c.1154G>C (p.Gly385Ala)
c.*1610G>C (n.*1610G>C)
c.3008G>C (p.Gly1003Ala)
c.2990G>C (p.Gly997Ala)
22g.50720844G>TCA515260456SHANK3c.2612G>T (p.Gly871Val)
n.3196G>T
c.1664G>T (p.Gly555Val)
c.1154G>T (p.Gly385Val)
c.*1610G>T (n.*1610G>T)
c.3008G>T (p.Gly1003Val)
c.2990G>T (p.Gly997Val)
 gnomAD v4
22g.50720845C>ACA515260457SHANK3c.2613C>A (p.Gly871=)
n.3197C>A
c.1665C>A (p.Gly555=)
c.1155C>A (p.Gly385=)
c.*1611C>A (n.*1611C>A)
c.3009C>A (p.Gly1003=)
c.2991C>A (p.Gly997=)
 gnomAD v4
22g.50720845C>GCA515260459SHANK3c.2613C>G (p.Gly871=)
n.3197C>G
c.1665C>G (p.Gly555=)
c.1155C>G (p.Gly385=)
c.*1611C>G (n.*1611C>G)
c.3009C>G (p.Gly1003=)
c.2991C>G (p.Gly997=)
 dbSNP
22g.50720845C>TCA515260458SHANK3c.2613C>T (p.Gly871=)
n.3197C>T
c.1665C>T (p.Gly555=)
c.1155C>T (p.Gly385=)
c.*1611C>T (n.*1611C>T)
c.3009C>T (p.Gly1003=)
c.2991C>T (p.Gly997=)
 gnomAD v4
22g.50720847delCA891842414SHANK3c.2615del (p.Pro872ArgfsTer?)
n.3199del
c.1667del (p.Pro556ArgfsTer?)
c.1157del (p.Pro386ArgfsTer?)
c.*1613del (n.*1613del)
c.3011del (p.Pro1004ArgfsTer?)
c.2993del (p.Pro998ArgfsTer?)
 gnomAD v4
22g.50720846C>ACA515260460SHANK3c.2614C>A (p.Pro872Thr)
n.3198C>A
c.1666C>A (p.Pro556Thr)
c.1156C>A (p.Pro386Thr)
c.*1612C>A (n.*1612C>A)
c.3010C>A (p.Pro1004Thr)
c.2992C>A (p.Pro998Thr)
 gnomAD v4
22g.50720846C=CA2411007864SHANK3c.2614C= (p.Pro872=)
n.3198C=
c.1666C= (p.Pro556=)
c.1156C= (p.Pro386=)
c.*1612C= (n.*1612C=)
c.3010C= (p.Pro1004=)
c.2992C= (p.Pro998=)
22g.50720846C>GCA10325944SHANK3c.2614C>G (p.Pro872Ala)
n.3198C>G
c.1666C>G (p.Pro556Ala)
c.1156C>G (p.Pro386Ala)
c.*1612C>G (n.*1612C>G)
c.3010C>G (p.Pro1004Ala)
c.2992C>G (p.Pro998Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50720846C>TCA515260461SHANK3c.2614C>T (p.Pro872Ser)
n.3198C>T
c.1666C>T (p.Pro556Ser)
c.1156C>T (p.Pro386Ser)
c.*1612C>T (n.*1612C>T)
c.3010C>T (p.Pro1004Ser)
c.2992C>T (p.Pro998Ser)
 gnomAD v4
22g.50720847C>ACA515260462SHANK3c.2615C>A (p.Pro872Gln)
n.3199C>A
c.1667C>A (p.Pro556Gln)
c.1157C>A (p.Pro386Gln)
c.*1613C>A (n.*1613C>A)
c.3011C>A (p.Pro1004Gln)
c.2993C>A (p.Pro998Gln)
 gnomAD v4
22g.50720847C=CA2411007865SHANK3c.2615C= (p.Pro872=)
n.3199C=
c.1667C= (p.Pro556=)
c.1157C= (p.Pro386=)
c.*1613C= (n.*1613C=)
c.3011C= (p.Pro1004=)
c.2993C= (p.Pro998=)
22g.50720847C>GCA515260463SHANK3c.2615C>G (p.Pro872Arg)
n.3199C>G
c.1667C>G (p.Pro556Arg)
c.1157C>G (p.Pro386Arg)
c.*1613C>G (n.*1613C>G)
c.3011C>G (p.Pro1004Arg)
c.2993C>G (p.Pro998Arg)
 dbSNP
22g.50720847C>TCA515260464SHANK3c.2615C>T (p.Pro872Leu)
n.3199C>T
c.1667C>T (p.Pro556Leu)
c.1157C>T (p.Pro386Leu)
c.*1613C>T (n.*1613C>T)
c.3011C>T (p.Pro1004Leu)
c.2993C>T (p.Pro998Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720847_50720848insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGATCA2819316110SHANK3c.2615_2616insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly873ArgfsTer?)
n.3199_3200insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT
c.1667_1668insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly557ArgfsTer?)
c.1157_1158insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly387ArgfsTer?)
c.*1613_*1614insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (n.*1613_*1614insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT)
c.3011_3012insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly1005ArgfsTer?)
c.2993_2994insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly999ArgfsTer?)
22g.50720848G>ACA515260465SHANK3c.2616G>A (p.Pro872=)
n.3200G>A
c.1668G>A (p.Pro556=)
c.1158G>A (p.Pro386=)
c.*1614G>A (n.*1614G>A)
c.3012G>A (p.Pro1004=)
c.2994G>A (p.Pro998=)
 dbSNP gnomAD v4
22g.50720848G>CCA515260466SHANK3c.2616G>C (p.Pro872=)
n.3200G>C
c.1668G>C (p.Pro556=)
c.1158G>C (p.Pro386=)
c.*1614G>C (n.*1614G>C)
c.3012G>C (p.Pro1004=)
c.2994G>C (p.Pro998=)
 gnomAD v4
22g.50720848G=CA2411007866SHANK3c.2616G= (p.Pro872=)
n.3200G=
c.1668G= (p.Pro556=)
c.1158G= (p.Pro386=)
c.*1614G= (n.*1614G=)
c.3012G= (p.Pro1004=)
c.2994G= (p.Pro998=)
22g.50720848G>TCA515260467SHANK3c.2616G>T (p.Pro872=)
n.3200G>T
c.1668G>T (p.Pro556=)
c.1158G>T (p.Pro386=)
c.*1614G>T (n.*1614G>T)
c.3012G>T (p.Pro1004=)
c.2994G>T (p.Pro998=)
 gnomAD v4
22g.50720851delCA2657583416SHANK3c.2619del (p.Leu874SerfsTer?)
n.3203del
c.1671del (p.Leu558SerfsTer?)
c.1161del (p.Leu388SerfsTer?)
c.*1617del (n.*1617del)
c.3015del (p.Leu1006SerfsTer?)
c.2997del (p.Leu1000SerfsTer?)
 gnomAD v4
22g.50720849G>ACA515260469SHANK3c.2617G>A (p.Gly873Arg)
n.3201G>A
c.1669G>A (p.Gly557Arg)
c.1159G>A (p.Gly387Arg)
c.*1615G>A (n.*1615G>A)
c.3013G>A (p.Gly1005Arg)
c.2995G>A (p.Gly999Arg)
 dbSNP gnomAD v3 gnomAD v4
22g.50720849G>CCA515260470SHANK3c.2617G>C (p.Gly873Arg)
n.3201G>C
c.1669G>C (p.Gly557Arg)
c.1159G>C (p.Gly387Arg)
c.*1615G>C (n.*1615G>C)
c.3013G>C (p.Gly1005Arg)
c.2995G>C (p.Gly999Arg)
22g.50720849G=CA2411007867SHANK3c.2617G= (p.Gly873=)
n.3201G=
c.1669G= (p.Gly557=)
c.1159G= (p.Gly387=)
c.*1615G= (n.*1615G=)
c.3013G= (p.Gly1005=)
c.2995G= (p.Gly999=)
22g.50720849G>TCA515260468SHANK3c.2617G>T (p.Gly873Trp)
n.3201G>T
c.1669G>T (p.Gly557Trp)
c.1159G>T (p.Gly387Trp)
c.*1615G>T (n.*1615G>T)
c.3013G>T (p.Gly1005Trp)
c.2995G>T (p.Gly999Trp)
 gnomAD v4
22g.50720850G>ACA515260471SHANK3c.2618G>A (p.Gly873Glu)
n.3202G>A
c.1670G>A (p.Gly557Glu)
c.1160G>A (p.Gly387Glu)
c.*1616G>A (n.*1616G>A)
c.3014G>A (p.Gly1005Glu)
c.2996G>A (p.Gly999Glu)
 dbSNP gnomAD v3 gnomAD v4
22g.50720850G>CCA515260472SHANK3c.2618G>C (p.Gly873Ala)
n.3202G>C
c.1670G>C (p.Gly557Ala)
c.1160G>C (p.Gly387Ala)
c.*1616G>C (n.*1616G>C)
c.3014G>C (p.Gly1005Ala)
c.2996G>C (p.Gly999Ala)
 dbSNP
22g.50720850G=CA2411007868SHANK3c.2618G= (p.Gly873=)
n.3202G=
c.1670G= (p.Gly557=)
c.1160G= (p.Gly387=)
c.*1616G= (n.*1616G=)
c.3014G= (p.Gly1005=)
c.2996G= (p.Gly999=)
22g.50720850G>TCA515260473SHANK3c.2618G>T (p.Gly873Val)
n.3202G>T
c.1670G>T (p.Gly557Val)
c.1160G>T (p.Gly387Val)
c.*1616G>T (n.*1616G>T)
c.3014G>T (p.Gly1005Val)
c.2996G>T (p.Gly999Val)
22g.50720851G>ACA515260474SHANK3c.2619G>A (p.Gly873=)
n.3203G>A
c.1671G>A (p.Gly557=)
c.1161G>A (p.Gly387=)
c.*1617G>A (n.*1617G>A)
c.3015G>A (p.Gly1005=)
c.2997G>A (p.Gly999=)
 gnomAD v4
22g.50720851G>CCA515260475SHANK3c.2619G>C (p.Gly873=)
n.3203G>C
c.1671G>C (p.Gly557=)
c.1161G>C (p.Gly387=)
c.*1617G>C (n.*1617G>C)
c.3015G>C (p.Gly1005=)
c.2997G>C (p.Gly999=)
22g.50720851G>TCA515260476SHANK3c.2619G>T (p.Gly873=)
n.3203G>T
c.1671G>T (p.Gly557=)
c.1161G>T (p.Gly387=)
c.*1617G>T (n.*1617G>T)
c.3015G>T (p.Gly1005=)
c.2997G>T (p.Gly999=)
22g.50720852C>ACA515260477SHANK3c.2620C>A (p.Leu874Ile)
n.3204C>A
c.1672C>A (p.Leu558Ile)
c.1162C>A (p.Leu388Ile)
c.*1618C>A (n.*1618C>A)
c.3016C>A (p.Leu1006Ile)
c.2998C>A (p.Leu1000Ile)
 gnomAD v4
22g.50720852C=CA2411007869SHANK3c.2620C= (p.Leu874=)
n.3204C=
c.1672C= (p.Leu558=)
c.1162C= (p.Leu388=)
c.*1618C= (n.*1618C=)
c.3016C= (p.Leu1006=)
c.2998C= (p.Leu1000=)
22g.50720852C>GCA515260478SHANK3c.2620C>G (p.Leu874Val)
n.3204C>G
c.1672C>G (p.Leu558Val)
c.1162C>G (p.Leu388Val)
c.*1618C>G (n.*1618C>G)
c.3016C>G (p.Leu1006Val)
c.2998C>G (p.Leu1000Val)
22g.50720852C>TCA515260479SHANK3c.2620C>T (p.Leu874Phe)
n.3204C>T
c.1672C>T (p.Leu558Phe)
c.1162C>T (p.Leu388Phe)
c.*1618C>T (n.*1618C>T)
c.3016C>T (p.Leu1006Phe)
c.2998C>T (p.Leu1000Phe)
 dbSNP gnomAD v4
22g.50720853T>ACA515260480SHANK3c.2621T>A (p.Leu874His)
n.3205T>A
c.1673T>A (p.Leu558His)
c.1163T>A (p.Leu388His)
c.*1619T>A (n.*1619T>A)
c.3017T>A (p.Leu1006His)
c.2999T>A (p.Leu1000His)
22g.50720853T>CCA515260481SHANK3c.2621T>C (p.Leu874Pro)
n.3205T>C
c.1673T>C (p.Leu558Pro)
c.1163T>C (p.Leu388Pro)
c.*1619T>C (n.*1619T>C)
c.3017T>C (p.Leu1006Pro)
c.2999T>C (p.Leu1000Pro)
 dbSNP gnomAD v4
22g.50720853T>GCA515260482SHANK3c.2621T>G (p.Leu874Arg)
n.3205T>G
c.1673T>G (p.Leu558Arg)
c.1163T>G (p.Leu388Arg)
c.*1619T>G (n.*1619T>G)
c.3017T>G (p.Leu1006Arg)
c.2999T>G (p.Leu1000Arg)
 gnomAD v4
22g.50720854C>ACA515260485SHANK3c.2622C>A (p.Leu874=)
n.3206C>A
c.1674C>A (p.Leu558=)
c.1164C>A (p.Leu388=)
c.*1620C>A (n.*1620C>A)
c.3018C>A (p.Leu1006=)
c.3000C>A (p.Leu1000=)
 gnomAD v4
22g.50720854C>GCA515260483SHANK3c.2622C>G (p.Leu874=)
n.3206C>G
c.1674C>G (p.Leu558=)
c.1164C>G (p.Leu388=)
c.*1620C>G (n.*1620C>G)
c.3018C>G (p.Leu1006=)
c.3000C>G (p.Leu1000=)
22g.50720854C>TCA515260484SHANK3c.2622C>T (p.Leu874=)
n.3206C>T
c.1674C>T (p.Leu558=)
c.1164C>T (p.Leu388=)
c.*1620C>T (n.*1620C>T)
c.3018C>T (p.Leu1006=)
c.3000C>T (p.Leu1000=)
 gnomAD v4
22g.50720855G>ACA325578367SHANK3c.2623G>A (p.Ala875Thr)
n.3207G>A
c.1675G>A (p.Ala559Thr)
c.1165G>A (p.Ala389Thr)
c.*1621G>A (n.*1621G>A)
c.3019G>A (p.Ala1007Thr)
c.3001G>A (p.Ala1001Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720855G>CCA515260486SHANK3c.2623G>C (p.Ala875Pro)
n.3207G>C
c.1675G>C (p.Ala559Pro)
c.1165G>C (p.Ala389Pro)
c.*1621G>C (n.*1621G>C)
c.3019G>C (p.Ala1007Pro)
c.3001G>C (p.Ala1001Pro)
 gnomAD v4
22g.50720855G=CA2411007870SHANK3c.2623G= (p.Ala875=)
n.3207G=
c.1675G= (p.Ala559=)
c.1165G= (p.Ala389=)
c.*1621G= (n.*1621G=)
c.3019G= (p.Ala1007=)
c.3001G= (p.Ala1001=)
22g.50720855G>TCA515260487SHANK3c.2623G>T (p.Ala875Ser)
n.3207G>T
c.1675G>T (p.Ala559Ser)
c.1165G>T (p.Ala389Ser)
c.*1621G>T (n.*1621G>T)
c.3019G>T (p.Ala1007Ser)
c.3001G>T (p.Ala1001Ser)
 dbSNP gnomAD v3 gnomAD v4
22g.50720856_50720894delCA2819316113SHANK3c.2624_2662del (p.Ala875_Leu887del)
n.3208_3246del
c.1676_1714del (p.Ala559_Leu571del)
c.1166_1204del (p.Ala389_Leu401del)
c.*1622_*1660del (n.*1622_*1660del)
c.3020_3058del (p.Ala1007_Leu1019del)
c.3002_3040del (p.Ala1001_Leu1013del)
22g.50720856C>ACA515260488SHANK3c.2624C>A (p.Ala875Glu)
n.3208C>A
c.1676C>A (p.Ala559Glu)
c.1166C>A (p.Ala389Glu)
c.*1622C>A (n.*1622C>A)
c.3020C>A (p.Ala1007Glu)
c.3002C>A (p.Ala1001Glu)
 gnomAD v4
22g.50720856C>GCA515260489SHANK3c.2624C>G (p.Ala875Gly)
n.3208C>G
c.1676C>G (p.Ala559Gly)
c.1166C>G (p.Ala389Gly)
c.*1622C>G (n.*1622C>G)
c.3020C>G (p.Ala1007Gly)
c.3002C>G (p.Ala1001Gly)
 gnomAD v4
22g.50720856C>TCA515260490SHANK3c.2624C>T (p.Ala875Val)
n.3208C>T
c.1676C>T (p.Ala559Val)
c.1166C>T (p.Ala389Val)
c.*1622C>T (n.*1622C>T)
c.3020C>T (p.Ala1007Val)
c.3002C>T (p.Ala1001Val)
 gnomAD v4
22g.50720857G>ACA515260491SHANK3c.2625G>A (p.Ala875=)
n.3209G>A
c.1677G>A (p.Ala559=)
c.1167G>A (p.Ala389=)
c.*1623G>A (n.*1623G>A)
c.3021G>A (p.Ala1007=)
c.3003G>A (p.Ala1001=)
 gnomAD v4
22g.50720857G>CCA515260492SHANK3c.2625G>C (p.Ala875=)
n.3209G>C
c.1677G>C (p.Ala559=)
c.1167G>C (p.Ala389=)
c.*1623G>C (n.*1623G>C)
c.3021G>C (p.Ala1007=)
c.3003G>C (p.Ala1001=)
 dbSNP
22g.50720857G=CA2411007871SHANK3c.2625G= (p.Ala875=)
n.3209G=
c.1677G= (p.Ala559=)
c.1167G= (p.Ala389=)
c.*1623G= (n.*1623G=)
c.3021G= (p.Ala1007=)
c.3003G= (p.Ala1001=)
22g.50720857G>TCA515260493SHANK3c.2625G>T (p.Ala875=)
n.3209G>T
c.1677G>T (p.Ala559=)
c.1167G>T (p.Ala389=)
c.*1623G>T (n.*1623G>T)
c.3021G>T (p.Ala1007=)
c.3003G>T (p.Ala1001=)
 gnomAD v4
22g.50720858T>ACA515260494SHANK3c.2626T>A (p.Phe876Ile)
n.3210T>A
c.1678T>A (p.Phe560Ile)
c.1168T>A (p.Phe390Ile)
c.*1624T>A (n.*1624T>A)
c.3022T>A (p.Phe1008Ile)
c.3004T>A (p.Phe1002Ile)
22g.50720858T>CCA515260495SHANK3c.2626T>C (p.Phe876Leu)
n.3210T>C
c.1678T>C (p.Phe560Leu)
c.1168T>C (p.Phe390Leu)
c.*1624T>C (n.*1624T>C)
c.3022T>C (p.Phe1008Leu)
c.3004T>C (p.Phe1002Leu)
 gnomAD v4
22g.50720858T>GCA515260496SHANK3c.2626T>G (p.Phe876Val)
n.3210T>G
c.1678T>G (p.Phe560Val)
c.1168T>G (p.Phe390Val)
c.*1624T>G (n.*1624T>G)
c.3022T>G (p.Phe1008Val)
c.3004T>G (p.Phe1002Val)
 ClinVar gnomAD v3 gnomAD v4
22g.50720859delCA2580099968SHANK3c.2627del (p.Phe876SerfsTer?)
n.3211del
c.1679del (p.Phe560SerfsTer?)
c.1169del (p.Phe390SerfsTer?)
c.*1625del (n.*1625del)
c.3023del (p.Phe1008SerfsTer?)
c.3005del (p.Phe1002SerfsTer?)
 ClinVar
22g.50720859T>ACA515260499SHANK3c.2627T>A (p.Phe876Tyr)
n.3211T>A
c.1679T>A (p.Phe560Tyr)
c.1169T>A (p.Phe390Tyr)
c.*1625T>A (n.*1625T>A)
c.3023T>A (p.Phe1008Tyr)
c.3005T>A (p.Phe1002Tyr)
22g.50720859T>CCA515260498SHANK3c.2627T>C (p.Phe876Ser)
n.3211T>C
c.1679T>C (p.Phe560Ser)
c.1169T>C (p.Phe390Ser)
c.*1625T>C (n.*1625T>C)
c.3023T>C (p.Phe1008Ser)
c.3005T>C (p.Phe1002Ser)
 dbSNP
22g.50720859T>GCA515260497SHANK3c.2627T>G (p.Phe876Cys)
n.3211T>G
c.1679T>G (p.Phe560Cys)
c.1169T>G (p.Phe390Cys)
c.*1625T>G (n.*1625T>G)
c.3023T>G (p.Phe1008Cys)
c.3005T>G (p.Phe1002Cys)
22g.50720860C>ACA515260500SHANK3c.2628C>A (p.Phe876Leu)
n.3212C>A
c.1680C>A (p.Phe560Leu)
c.1170C>A (p.Phe390Leu)
c.*1626C>A (n.*1626C>A)
c.3024C>A (p.Phe1008Leu)
c.3006C>A (p.Phe1002Leu)
 gnomAD v4
22g.50720860C=CA2411007872SHANK3c.2628C= (p.Phe876=)
n.3212C=
c.1680C= (p.Phe560=)
c.1170C= (p.Phe390=)
c.*1626C= (n.*1626C=)
c.3024C= (p.Phe1008=)
c.3006C= (p.Phe1002=)
22g.50720860C>GCA515260501SHANK3c.2628C>G (p.Phe876Leu)
n.3212C>G
c.1680C>G (p.Phe560Leu)
c.1170C>G (p.Phe390Leu)
c.*1626C>G (n.*1626C>G)
c.3024C>G (p.Phe1008Leu)
c.3006C>G (p.Phe1002Leu)
 dbSNP gnomAD v4
22g.50720860C>TCA515260502SHANK3c.2628C>T (p.Phe876=)
n.3212C>T
c.1680C>T (p.Phe560=)
c.1170C>T (p.Phe390=)
c.*1626C>T (n.*1626C>T)
c.3024C>T (p.Phe1008=)
c.3006C>T (p.Phe1002=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720861G>ACA515260503SHANK3c.2629G>A (p.Gly877Ser)
n.3213G>A
c.1681G>A (p.Gly561Ser)
c.1171G>A (p.Gly391Ser)
c.*1627G>A (n.*1627G>A)
c.3025G>A (p.Gly1009Ser)
c.3007G>A (p.Gly1003Ser)
 gnomAD v4
22g.50720861G>CCA515260504SHANK3c.2629G>C (p.Gly877Arg)
n.3213G>C
c.1681G>C (p.Gly561Arg)
c.1171G>C (p.Gly391Arg)
c.*1627G>C (n.*1627G>C)
c.3025G>C (p.Gly1009Arg)
c.3007G>C (p.Gly1003Arg)
22g.50720861G>TCA515260505SHANK3c.2629G>T (p.Gly877Cys)
n.3213G>T
c.1681G>T (p.Gly561Cys)
c.1171G>T (p.Gly391Cys)
c.*1627G>T (n.*1627G>T)
c.3025G>T (p.Gly1009Cys)
c.3007G>T (p.Gly1003Cys)
 gnomAD v4
22g.50720862G>ACA515260508SHANK3c.2630G>A (p.Gly877Asp)
n.3214G>A
c.1682G>A (p.Gly561Asp)
c.1172G>A (p.Gly391Asp)
c.*1628G>A (n.*1628G>A)
c.3026G>A (p.Gly1009Asp)
c.3008G>A (p.Gly1003Asp)
 gnomAD v4
22g.50720862G>CCA515260507SHANK3c.2630G>C (p.Gly877Ala)
n.3214G>C
c.1682G>C (p.Gly561Ala)
c.1172G>C (p.Gly391Ala)
c.*1628G>C (n.*1628G>C)
c.3026G>C (p.Gly1009Ala)
c.3008G>C (p.Gly1003Ala)
22g.50720862G>TCA515260506SHANK3c.2630G>T (p.Gly877Val)
n.3214G>T
c.1682G>T (p.Gly561Val)
c.1172G>T (p.Gly391Val)
c.*1628G>T (n.*1628G>T)
c.3026G>T (p.Gly1009Val)
c.3008G>T (p.Gly1003Val)
 gnomAD v4
22g.50720863C>ACA515260509SHANK3c.2631C>A (p.Gly877=)
n.3215C>A
c.1683C>A (p.Gly561=)
c.1173C>A (p.Gly391=)
c.*1629C>A (n.*1629C>A)
c.3027C>A (p.Gly1009=)
c.3009C>A (p.Gly1003=)
 gnomAD v4
22g.50720863C=CA2411007873SHANK3c.2631C= (p.Gly877=)
n.3215C=
c.1683C= (p.Gly561=)
c.1173C= (p.Gly391=)
c.*1629C= (n.*1629C=)
c.3027C= (p.Gly1009=)
c.3009C= (p.Gly1003=)
22g.50720863C>GCA515260510SHANK3c.2631C>G (p.Gly877=)
n.3215C>G
c.1683C>G (p.Gly561=)
c.1173C>G (p.Gly391=)
c.*1629C>G (n.*1629C>G)
c.3027C>G (p.Gly1009=)
c.3009C>G (p.Gly1003=)
22g.50720863C>TCA515260511SHANK3c.2631C>T (p.Gly877=)
n.3215C>T
c.1683C>T (p.Gly561=)
c.1173C>T (p.Gly391=)
c.*1629C>T (n.*1629C>T)
c.3027C>T (p.Gly1009=)
c.3009C>T (p.Gly1003=)
 dbSNP gnomAD v4
22g.50720864G>ACA515260512SHANK3c.2632G>A (p.Gly878Ser)
n.3216G>A
c.1684G>A (p.Gly562Ser)
c.1174G>A (p.Gly392Ser)
c.*1630G>A (n.*1630G>A)
c.3028G>A (p.Gly1010Ser)
c.3010G>A (p.Gly1004Ser)
 gnomAD v4
22g.50720864G>CCA515260513SHANK3c.2632G>C (p.Gly878Arg)
n.3216G>C
c.1684G>C (p.Gly562Arg)
c.1174G>C (p.Gly392Arg)
c.*1630G>C (n.*1630G>C)
c.3028G>C (p.Gly1010Arg)
c.3010G>C (p.Gly1004Arg)
22g.50720864G>TCA515260514SHANK3c.2632G>T (p.Gly878Cys)
n.3216G>T
c.1684G>T (p.Gly562Cys)
c.1174G>T (p.Gly392Cys)
c.*1630G>T (n.*1630G>T)
c.3028G>T (p.Gly1010Cys)
c.3010G>T (p.Gly1004Cys)
 gnomAD v4
22g.50720865G>ACA515260515SHANK3c.2633G>A (p.Gly878Asp)
n.3217G>A
c.1685G>A (p.Gly562Asp)
c.1175G>A (p.Gly392Asp)
c.*1631G>A (n.*1631G>A)
c.3029G>A (p.Gly1010Asp)
c.3011G>A (p.Gly1004Asp)
 gnomAD v4
22g.50720865G>CCA515260516SHANK3c.2633G>C (p.Gly878Ala)
n.3217G>C
c.1685G>C (p.Gly562Ala)
c.1175G>C (p.Gly392Ala)
c.*1631G>C (n.*1631G>C)
c.3029G>C (p.Gly1010Ala)
c.3011G>C (p.Gly1004Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50720865G=CA2411007874SHANK3c.2633G= (p.Gly878=)
n.3217G=
c.1685G= (p.Gly562=)
c.1175G= (p.Gly392=)
c.*1631G= (n.*1631G=)
c.3029G= (p.Gly1010=)
c.3011G= (p.Gly1004=)
22g.50720865G>TCA10325945SHANK3c.2633G>T (p.Gly878Val)
n.3217G>T
c.1685G>T (p.Gly562Val)
c.1175G>T (p.Gly392Val)
c.*1631G>T (n.*1631G>T)
c.3029G>T (p.Gly1010Val)
c.3011G>T (p.Gly1004Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50720866C>ACA515260517SHANK3c.2634C>A (p.Gly878=)
n.3218C>A
c.1686C>A (p.Gly562=)
c.1176C>A (p.Gly392=)
c.*1632C>A (n.*1632C>A)
c.3030C>A (p.Gly1010=)
c.3012C>A (p.Gly1004=)
 gnomAD v4
22g.50720866C>GCA515260518SHANK3c.2634C>G (p.Gly878=)
n.3218C>G
c.1686C>G (p.Gly562=)
c.1176C>G (p.Gly392=)
c.*1632C>G (n.*1632C>G)
c.3030C>G (p.Gly1010=)
c.3012C>G (p.Gly1004=)
 gnomAD v4
22g.50720866C>TCA515260519SHANK3c.2634C>T (p.Gly878=)
n.3218C>T
c.1686C>T (p.Gly562=)
c.1176C>T (p.Gly392=)
c.*1632C>T (n.*1632C>T)
c.3030C>T (p.Gly1010=)
c.3012C>T (p.Gly1004=)
 gnomAD v4
22g.50720868delCA2819316118SHANK3c.2636del (p.Pro879ArgfsTer?)
n.3220del
c.1688del (p.Pro563ArgfsTer?)
c.1178del (p.Pro393ArgfsTer?)
c.*1634del (n.*1634del)
c.3032del (p.Pro1011ArgfsTer?)
c.3014del (p.Pro1005ArgfsTer?)
22g.50720873_50720874insGCCGAACGCGAGCCCCGGGCCCA2819316117SHANK3c.2641_2642insGCCGAACGCGAGCCCCGGGCC (p.Gly880_Pro881insArgArgThrArgAlaProGly)
n.3225_3226insGCCGAACGCGAGCCCCGGGCC
c.1693_1694insGCCGAACGCGAGCCCCGGGCC (p.Gly564_Pro565insArgArgThrArgAlaProGly)
c.1183_1184insGCCGAACGCGAGCCCCGGGCC (p.Gly394_Pro395insArgArgThrArgAlaProGly)
c.*1639_*1640insGCCGAACGCGAGCCCCGGGCC (n.*1639_*1640insGCCGAACGCGAGCCCCGGGCC)
c.3037_3038insGCCGAACGCGAGCCCCGGGCC (p.Gly1012_Pro1013insArgArgThrArgAlaProGly)
c.3019_3020insGCCGAACGCGAGCCCCGGGCC (p.Gly1006_Pro1007insArgArgThrArgAlaProGly)
22g.50720867C>ACA515260520SHANK3c.2635C>A (p.Pro879Thr)
n.3219C>A
c.1687C>A (p.Pro563Thr)
c.1177C>A (p.Pro393Thr)
c.*1633C>A (n.*1633C>A)
c.3031C>A (p.Pro1011Thr)
c.3013C>A (p.Pro1005Thr)
 gnomAD v4
22g.50720867C=CA2411007875SHANK3c.2635C= (p.Pro879=)
n.3219C=
c.1687C= (p.Pro563=)
c.1177C= (p.Pro393=)
c.*1633C= (n.*1633C=)
c.3031C= (p.Pro1011=)
c.3013C= (p.Pro1005=)
22g.50720867C>GCA515260521SHANK3c.2635C>G (p.Pro879Ala)
n.3219C>G
c.1687C>G (p.Pro563Ala)
c.1177C>G (p.Pro393Ala)
c.*1633C>G (n.*1633C>G)
c.3031C>G (p.Pro1011Ala)
c.3013C>G (p.Pro1005Ala)
 dbSNP
22g.50720867C>TCA515260522SHANK3c.2635C>T (p.Pro879Ser)
n.3219C>T
c.1687C>T (p.Pro563Ser)
c.1177C>T (p.Pro393Ser)
c.*1633C>T (n.*1633C>T)
c.3031C>T (p.Pro1011Ser)
c.3013C>T (p.Pro1005Ser)

Number of alleles fetched