Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50720679_50720752delCA2657583379SHANK3c.2447_2520del (p.Arg816ProfsTer?)
n.3031_3104del
c.1499_1572del (p.Arg500ProfsTer?)
c.989_1062del (p.Arg330ProfsTer?)
c.*1445_*1518del (n.*1445_*1518del)
c.2843_2916del (p.Arg948ProfsTer?)
c.2825_2898del (p.Arg942ProfsTer?)
 gnomAD v4
22g.50720694delCA2657583384SHANK3c.2462del (p.Leu821ArgfsTer2)
n.3046del
c.1514del (p.Leu505ArgfsTer2)
c.1004del (p.Leu335ArgfsTer2)
c.*1460del (n.*1460del)
c.2858del (p.Leu953ArgfsTer2)
c.2840del (p.Leu947ArgfsTer2)
 gnomAD v4
22g.50720694T>ACA515260020SHANK3c.2462T>A (p.Leu821Gln)
n.3046T>A
c.1514T>A (p.Leu505Gln)
c.1004T>A (p.Leu335Gln)
c.*1460T>A (n.*1460T>A)
c.2858T>A (p.Leu953Gln)
c.2840T>A (p.Leu947Gln)
 gnomAD v4
22g.50720694T>CCA515260021SHANK3c.2462T>C (p.Leu821Pro)
n.3046T>C
c.1514T>C (p.Leu505Pro)
c.1004T>C (p.Leu335Pro)
c.*1460T>C (n.*1460T>C)
c.2858T>C (p.Leu953Pro)
c.2840T>C (p.Leu947Pro)
 gnomAD v4
22g.50720694T>GCA515260022SHANK3c.2462T>G (p.Leu821Arg)
n.3046T>G
c.1514T>G (p.Leu505Arg)
c.1004T>G (p.Leu335Arg)
c.*1460T>G (n.*1460T>G)
c.2858T>G (p.Leu953Arg)
c.2840T>G (p.Leu947Arg)
22g.50720694dupCA2657583383SHANK3c.2462dup (p.Val822GlyfsTer?)
n.3046dup
c.1514dup (p.Val506GlyfsTer?)
c.1004dup (p.Val336GlyfsTer?)
c.*1460dup (n.*1460dup)
c.2858dup (p.Val954GlyfsTer?)
c.2840dup (p.Val948GlyfsTer?)
 gnomAD v4
22g.50720695G>ACA515260023SHANK3c.2463G>A (p.Leu821=)
n.3047G>A
c.1515G>A (p.Leu505=)
c.1005G>A (p.Leu335=)
c.*1461G>A (n.*1461G>A)
c.2859G>A (p.Leu953=)
c.2841G>A (p.Leu947=)
 gnomAD v4
22g.50720695G>CCA515260025SHANK3c.2463G>C (p.Leu821=)
n.3047G>C
c.1515G>C (p.Leu505=)
c.1005G>C (p.Leu335=)
c.*1461G>C (n.*1461G>C)
c.2859G>C (p.Leu953=)
c.2841G>C (p.Leu947=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720695G=CA2411007765SHANK3c.2463G= (p.Leu821=)
n.3047G=
c.1515G= (p.Leu505=)
c.1005G= (p.Leu335=)
c.*1461G= (n.*1461G=)
c.2859G= (p.Leu953=)
c.2841G= (p.Leu947=)
22g.50720695G>TCA515260024SHANK3c.2463G>T (p.Leu821=)
n.3047G>T
c.1515G>T (p.Leu505=)
c.1005G>T (p.Leu335=)
c.*1461G>T (n.*1461G>T)
c.2859G>T (p.Leu953=)
c.2841G>T (p.Leu947=)
 gnomAD v4
22g.50720696delCA2657583385SHANK3c.2464del (p.Val822Ter)
n.3048del
c.1516del (p.Val506Ter)
c.1006del (p.Val336Ter)
c.*1462del (n.*1462del)
c.2860del (p.Val954Ter)
c.2842del (p.Val948Ter)
 gnomAD v4
22g.50720696G>ACA10325935SHANK3c.2464G>A (p.Val822Met)
n.3048G>A
c.1516G>A (p.Val506Met)
c.1006G>A (p.Val336Met)
c.*1462G>A (n.*1462G>A)
c.2860G>A (p.Val954Met)
c.2842G>A (p.Val948Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50720696G>CCA515260026SHANK3c.2464G>C (p.Val822Leu)
n.3048G>C
c.1516G>C (p.Val506Leu)
c.1006G>C (p.Val336Leu)
c.*1462G>C (n.*1462G>C)
c.2860G>C (p.Val954Leu)
c.2842G>C (p.Val948Leu)
 gnomAD v4
22g.50720696G=CA2411007766SHANK3c.2464G= (p.Val822=)
n.3048G=
c.1516G= (p.Val506=)
c.1006G= (p.Val336=)
c.*1462G= (n.*1462G=)
c.2860G= (p.Val954=)
c.2842G= (p.Val948=)
22g.50720696G>TCA515260027SHANK3c.2464G>T (p.Val822Leu)
n.3048G>T
c.1516G>T (p.Val506Leu)
c.1006G>T (p.Val336Leu)
c.*1462G>T (n.*1462G>T)
c.2860G>T (p.Val954Leu)
c.2842G>T (p.Val948Leu)
 gnomAD v4
22g.50720697T>ACA515260028SHANK3c.2465T>A (p.Val822Glu)
n.3049T>A
c.1517T>A (p.Val506Glu)
c.1007T>A (p.Val336Glu)
c.*1463T>A (n.*1463T>A)
c.2861T>A (p.Val954Glu)
c.2843T>A (p.Val948Glu)
 gnomAD v4
22g.50720697T>CCA515260029SHANK3c.2465T>C (p.Val822Ala)
n.3049T>C
c.1517T>C (p.Val506Ala)
c.1007T>C (p.Val336Ala)
c.*1463T>C (n.*1463T>C)
c.2861T>C (p.Val954Ala)
c.2843T>C (p.Val948Ala)
 gnomAD v4
22g.50720697T>GCA515260030SHANK3c.2465T>G (p.Val822Gly)
n.3049T>G
c.1517T>G (p.Val506Gly)
c.1007T>G (p.Val336Gly)
c.*1463T>G (n.*1463T>G)
c.2861T>G (p.Val954Gly)
c.2843T>G (p.Val948Gly)
22g.50720698delCA2657583386SHANK3c.2466del (p.Lys823SerfsTer?)
n.3050del
c.1518del (p.Lys507SerfsTer?)
c.1008del (p.Lys337SerfsTer?)
c.*1464del (n.*1464del)
c.2862del (p.Lys955SerfsTer?)
c.2844del (p.Lys949SerfsTer?)
 gnomAD v4
22g.50720698G>ACA515260031SHANK3c.2466G>A (p.Val822=)
n.3050G>A
c.1518G>A (p.Val506=)
c.1008G>A (p.Val336=)
c.*1464G>A (n.*1464G>A)
c.2862G>A (p.Val954=)
c.2844G>A (p.Val948=)
 gnomAD v4
22g.50720698G>CCA515260032SHANK3c.2466G>C (p.Val822=)
n.3050G>C
c.1518G>C (p.Val506=)
c.1008G>C (p.Val336=)
c.*1464G>C (n.*1464G>C)
c.2862G>C (p.Val954=)
c.2844G>C (p.Val948=)
22g.50720698G=CA2411007767SHANK3c.2466G= (p.Val822=)
n.3050G=
c.1518G= (p.Val506=)
c.1008G= (p.Val336=)
c.*1464G= (n.*1464G=)
c.2862G= (p.Val954=)
c.2844G= (p.Val948=)
22g.50720698G>TCA515260033SHANK3c.2466G>T (p.Val822=)
n.3050G>T
c.1518G>T (p.Val506=)
c.1008G>T (p.Val336=)
c.*1464G>T (n.*1464G>T)
c.2862G>T (p.Val954=)
c.2844G>T (p.Val948=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720699A>CCA515260034SHANK3c.2467A>C (p.Lys823Gln)
n.3051A>C
c.1519A>C (p.Lys507Gln)
c.1009A>C (p.Lys337Gln)
c.*1465A>C (n.*1465A>C)
c.2863A>C (p.Lys955Gln)
c.2845A>C (p.Lys949Gln)
 gnomAD v4
22g.50720699A>GCA515260035SHANK3c.2467A>G (p.Lys823Glu)
n.3051A>G
c.1519A>G (p.Lys507Glu)
c.1009A>G (p.Lys337Glu)
c.*1465A>G (n.*1465A>G)
c.2863A>G (p.Lys955Glu)
c.2845A>G (p.Lys949Glu)
 gnomAD v4
22g.50720699A>TCA515260036SHANK3c.2467A>T (p.Lys823Ter)
n.3051A>T
c.1519A>T (p.Lys507Ter)
c.1009A>T (p.Lys337Ter)
c.*1465A>T (n.*1465A>T)
c.2863A>T (p.Lys955Ter)
c.2845A>T (p.Lys949Ter)
 gnomAD v4
22g.50720700A>CCA515260037SHANK3c.2468A>C (p.Lys823Thr)
n.3052A>C
c.1520A>C (p.Lys507Thr)
c.1010A>C (p.Lys337Thr)
c.*1466A>C (n.*1466A>C)
c.2864A>C (p.Lys955Thr)
c.2846A>C (p.Lys949Thr)
 gnomAD v3 gnomAD v4
22g.50720700A>GCA515260039SHANK3c.2468A>G (p.Lys823Arg)
n.3052A>G
c.1520A>G (p.Lys507Arg)
c.1010A>G (p.Lys337Arg)
c.*1466A>G (n.*1466A>G)
c.2864A>G (p.Lys955Arg)
c.2846A>G (p.Lys949Arg)
 gnomAD v4
22g.50720700A>TCA515260038SHANK3c.2468A>T (p.Lys823Met)
n.3052A>T
c.1520A>T (p.Lys507Met)
c.1010A>T (p.Lys337Met)
c.*1466A>T (n.*1466A>T)
c.2864A>T (p.Lys955Met)
c.2846A>T (p.Lys949Met)
 gnomAD v4
22g.50720701G>ACA325578250SHANK3c.2469G>A (p.Lys823=)
n.3053G>A
c.1521G>A (p.Lys507=)
c.1011G>A (p.Lys337=)
c.*1467G>A (n.*1467G>A)
c.2865G>A (p.Lys955=)
c.2847G>A (p.Lys949=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720701G>CCA515260040SHANK3c.2469G>C (p.Lys823Asn)
n.3053G>C
c.1521G>C (p.Lys507Asn)
c.1011G>C (p.Lys337Asn)
c.*1467G>C (n.*1467G>C)
c.2865G>C (p.Lys955Asn)
c.2847G>C (p.Lys949Asn)
 gnomAD v4
22g.50720701G=CA2411007768SHANK3c.2469G= (p.Lys823=)
n.3053G=
c.1521G= (p.Lys507=)
c.1011G= (p.Lys337=)
c.*1467G= (n.*1467G=)
c.2865G= (p.Lys955=)
c.2847G= (p.Lys949=)
22g.50720701G>TCA515260041SHANK3c.2469G>T (p.Lys823Asn)
n.3053G>T
c.1521G>T (p.Lys507Asn)
c.1011G>T (p.Lys337Asn)
c.*1467G>T (n.*1467G>T)
c.2865G>T (p.Lys955Asn)
c.2847G>T (p.Lys949Asn)
 gnomAD v4
22g.50720702C>ACA515260042SHANK3c.2470C>A (p.Gln824Lys)
n.3054C>A
c.1522C>A (p.Gln508Lys)
c.1012C>A (p.Gln338Lys)
c.*1468C>A (n.*1468C>A)
c.2866C>A (p.Gln956Lys)
c.2848C>A (p.Gln950Lys)
 gnomAD v4
22g.50720702C>GCA515260043SHANK3c.2470C>G (p.Gln824Glu)
n.3054C>G
c.1522C>G (p.Gln508Glu)
c.1012C>G (p.Gln338Glu)
c.*1468C>G (n.*1468C>G)
c.2866C>G (p.Gln956Glu)
c.2848C>G (p.Gln950Glu)
22g.50720702C>TCA515260044SHANK3c.2470C>T (p.Gln824Ter)
n.3054C>T
c.1522C>T (p.Gln508Ter)
c.1012C>T (p.Gln338Ter)
c.*1468C>T (n.*1468C>T)
c.2866C>T (p.Gln956Ter)
c.2848C>T (p.Gln950Ter)
 gnomAD v4
22g.50720703A>CCA515260045SHANK3c.2471A>C (p.Gln824Pro)
n.3055A>C
c.1523A>C (p.Gln508Pro)
c.1013A>C (p.Gln338Pro)
c.*1469A>C (n.*1469A>C)
c.2867A>C (p.Gln956Pro)
c.2849A>C (p.Gln950Pro)
 gnomAD v4
22g.50720703A>GCA515260046SHANK3c.2471A>G (p.Gln824Arg)
n.3055A>G
c.1523A>G (p.Gln508Arg)
c.1013A>G (p.Gln338Arg)
c.*1469A>G (n.*1469A>G)
c.2867A>G (p.Gln956Arg)
c.2849A>G (p.Gln950Arg)
 gnomAD v4
22g.50720703A>TCA515260047SHANK3c.2471A>T (p.Gln824Leu)
n.3055A>T
c.1523A>T (p.Gln508Leu)
c.1013A>T (p.Gln338Leu)
c.*1469A>T (n.*1469A>T)
c.2867A>T (p.Gln956Leu)
c.2849A>T (p.Gln950Leu)
 gnomAD v4
22g.50720704G>ACA515260048SHANK3c.2472G>A (p.Gln824=)
n.3056G>A
c.1524G>A (p.Gln508=)
c.1014G>A (p.Gln338=)
c.*1470G>A (n.*1470G>A)
c.2868G>A (p.Gln956=)
c.2850G>A (p.Gln950=)
 gnomAD v4
22g.50720704G>CCA515260049SHANK3c.2472G>C (p.Gln824His)
n.3056G>C
c.1524G>C (p.Gln508His)
c.1014G>C (p.Gln338His)
c.*1470G>C (n.*1470G>C)
c.2868G>C (p.Gln956His)
c.2850G>C (p.Gln950His)
 gnomAD v4
22g.50720704G>TCA515260050SHANK3c.2472G>T (p.Gln824His)
n.3056G>T
c.1524G>T (p.Gln508His)
c.1014G>T (p.Gln338His)
c.*1470G>T (n.*1470G>T)
c.2868G>T (p.Gln956His)
c.2850G>T (p.Gln950His)
 gnomAD v4
22g.50720705C>ACA515260053SHANK3c.2473C>A (p.Leu825Met)
n.3057C>A
c.1525C>A (p.Leu509Met)
c.1015C>A (p.Leu339Met)
c.*1471C>A (n.*1471C>A)
c.2869C>A (p.Leu957Met)
c.2851C>A (p.Leu951Met)
 gnomAD v4
22g.50720705C=CA2411007769SHANK3c.2473C= (p.Leu825=)
n.3057C=
c.1525C= (p.Leu509=)
c.1015C= (p.Leu339=)
c.*1471C= (n.*1471C=)
c.2869C= (p.Leu957=)
c.2851C= (p.Leu951=)
22g.50720705C>GCA515260052SHANK3c.2473C>G (p.Leu825Val)
n.3057C>G
c.1525C>G (p.Leu509Val)
c.1015C>G (p.Leu339Val)
c.*1471C>G (n.*1471C>G)
c.2869C>G (p.Leu957Val)
c.2851C>G (p.Leu951Val)
 dbSNP gnomAD v3 gnomAD v4
22g.50720705C>TCA515260051SHANK3c.2473C>T (p.Leu825=)
n.3057C>T
c.1525C>T (p.Leu509=)
c.1015C>T (p.Leu339=)
c.*1471C>T (n.*1471C>T)
c.2869C>T (p.Leu957=)
c.2851C>T (p.Leu951=)
 gnomAD v4
22g.50720706T>ACA515260054SHANK3c.2474T>A (p.Leu825Gln)
n.3058T>A
c.1526T>A (p.Leu509Gln)
c.1016T>A (p.Leu339Gln)
c.*1472T>A (n.*1472T>A)
c.2870T>A (p.Leu957Gln)
c.2852T>A (p.Leu951Gln)
 gnomAD v4
22g.50720706T>CCA515260055SHANK3c.2474T>C (p.Leu825Pro)
n.3058T>C
c.1526T>C (p.Leu509Pro)
c.1016T>C (p.Leu339Pro)
c.*1472T>C (n.*1472T>C)
c.2870T>C (p.Leu957Pro)
c.2852T>C (p.Leu951Pro)
 gnomAD v4
22g.50720706T>GCA515260056SHANK3c.2474T>G (p.Leu825Arg)
n.3058T>G
c.1526T>G (p.Leu509Arg)
c.1016T>G (p.Leu339Arg)
c.*1472T>G (n.*1472T>G)
c.2870T>G (p.Leu957Arg)
c.2852T>G (p.Leu951Arg)
 dbSNP gnomAD v3 gnomAD v4
22g.50720706T=CA2411007770SHANK3c.2474T= (p.Leu825=)
n.3058T=
c.1526T= (p.Leu509=)
c.1016T= (p.Leu339=)
c.*1472T= (n.*1472T=)
c.2870T= (p.Leu957=)
c.2852T= (p.Leu951=)
22g.50720707delCA2657583387SHANK3c.2475del (p.Gln826ArgfsTer?)
n.3059del
c.1527del (p.Gln510ArgfsTer?)
c.1017del (p.Gln340ArgfsTer?)
c.*1473del (n.*1473del)
c.2871del (p.Gln958ArgfsTer?)
c.2853del (p.Gln952ArgfsTer?)
 gnomAD v4
22g.50720707G>ACA515260057SHANK3c.2475G>A (p.Leu825=)
n.3059G>A
c.1527G>A (p.Leu509=)
c.1017G>A (p.Leu339=)
c.*1473G>A (n.*1473G>A)
c.2871G>A (p.Leu957=)
c.2853G>A (p.Leu951=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720707G>CCA515260058SHANK3c.2475G>C (p.Leu825=)
n.3059G>C
c.1527G>C (p.Leu509=)
c.1017G>C (p.Leu339=)
c.*1473G>C (n.*1473G>C)
c.2871G>C (p.Leu957=)
c.2853G>C (p.Leu951=)
 gnomAD v4
22g.50720707G=CA2411007771SHANK3c.2475G= (p.Leu825=)
n.3059G=
c.1527G= (p.Leu509=)
c.1017G= (p.Leu339=)
c.*1473G= (n.*1473G=)
c.2871G= (p.Leu957=)
c.2853G= (p.Leu951=)
22g.50720707G>TCA515260059SHANK3c.2475G>T (p.Leu825=)
n.3059G>T
c.1527G>T (p.Leu509=)
c.1017G>T (p.Leu339=)
c.*1473G>T (n.*1473G>T)
c.2871G>T (p.Leu957=)
c.2853G>T (p.Leu951=)
 gnomAD v3 gnomAD v4
22g.50720708delCA2657583388SHANK3c.2476del (p.Gln826ArgfsTer?)
n.3060del
c.1528del (p.Gln510ArgfsTer?)
c.1018del (p.Gln340ArgfsTer?)
c.*1474del (n.*1474del)
c.2872del (p.Gln958ArgfsTer?)
c.2854del (p.Gln952ArgfsTer?)
 gnomAD v4
22g.50720708C>ACA515260060SHANK3c.2476C>A (p.Gln826Lys)
n.3060C>A
c.1528C>A (p.Gln510Lys)
c.1018C>A (p.Gln340Lys)
c.*1474C>A (n.*1474C>A)
c.2872C>A (p.Gln958Lys)
c.2854C>A (p.Gln952Lys)
 gnomAD v4
22g.50720708C>GCA515260061SHANK3c.2476C>G (p.Gln826Glu)
n.3060C>G
c.1528C>G (p.Gln510Glu)
c.1018C>G (p.Gln340Glu)
c.*1474C>G (n.*1474C>G)
c.2872C>G (p.Gln958Glu)
c.2854C>G (p.Gln952Glu)
 gnomAD v4
22g.50720708C>TCA515260062SHANK3c.2476C>T (p.Gln826Ter)
n.3060C>T
c.1528C>T (p.Gln510Ter)
c.1018C>T (p.Gln340Ter)
c.*1474C>T (n.*1474C>T)
c.2872C>T (p.Gln958Ter)
c.2854C>T (p.Gln952Ter)
 gnomAD v4
22g.50720709delCA2657583389SHANK3c.2477del (p.Gln826ArgfsTer?)
n.3061del
c.1529del (p.Gln510ArgfsTer?)
c.1019del (p.Gln340ArgfsTer?)
c.*1475del (n.*1475del)
c.2873del (p.Gln958ArgfsTer?)
c.2855del (p.Gln952ArgfsTer?)
 gnomAD v4
22g.50720709A>CCA515260063SHANK3c.2477A>C (p.Gln826Pro)
n.3061A>C
c.1529A>C (p.Gln510Pro)
c.1019A>C (p.Gln340Pro)
c.*1475A>C (n.*1475A>C)
c.2873A>C (p.Gln958Pro)
c.2855A>C (p.Gln952Pro)
22g.50720709A>GCA515260064SHANK3c.2477A>G (p.Gln826Arg)
n.3061A>G
c.1529A>G (p.Gln510Arg)
c.1019A>G (p.Gln340Arg)
c.*1475A>G (n.*1475A>G)
c.2873A>G (p.Gln958Arg)
c.2855A>G (p.Gln952Arg)
 gnomAD v4
22g.50720709A>TCA515260065SHANK3c.2477A>T (p.Gln826Leu)
n.3061A>T
c.1529A>T (p.Gln510Leu)
c.1019A>T (p.Gln340Leu)
c.*1475A>T (n.*1475A>T)
c.2873A>T (p.Gln958Leu)
c.2855A>T (p.Gln952Leu)
 gnomAD v4
22g.50720710G>ACA515260068SHANK3c.2478G>A (p.Gln826=)
n.3062G>A
c.1530G>A (p.Gln510=)
c.1020G>A (p.Gln340=)
c.*1476G>A (n.*1476G>A)
c.2874G>A (p.Gln958=)
c.2856G>A (p.Gln952=)
 gnomAD v4
22g.50720710G>CCA515260067SHANK3c.2478G>C (p.Gln826His)
n.3062G>C
c.1530G>C (p.Gln510His)
c.1020G>C (p.Gln340His)
c.*1476G>C (n.*1476G>C)
c.2874G>C (p.Gln958His)
c.2856G>C (p.Gln952His)
22g.50720710G>TCA515260066SHANK3c.2478G>T (p.Gln826His)
n.3062G>T
c.1530G>T (p.Gln510His)
c.1020G>T (p.Gln340His)
c.*1476G>T (n.*1476G>T)
c.2874G>T (p.Gln958His)
c.2856G>T (p.Gln952His)
 gnomAD v4
22g.50720711G>ACA515260069SHANK3c.2479G>A (p.Val827Met)
n.3063G>A
c.1531G>A (p.Val511Met)
c.1021G>A (p.Val341Met)
c.*1477G>A (n.*1477G>A)
c.2875G>A (p.Val959Met)
c.2857G>A (p.Val953Met)
 dbSNP gnomAD v3 gnomAD v4
22g.50720711G>CCA515260071SHANK3c.2479G>C (p.Val827Leu)
n.3063G>C
c.1531G>C (p.Val511Leu)
c.1021G>C (p.Val341Leu)
c.*1477G>C (n.*1477G>C)
c.2875G>C (p.Val959Leu)
c.2857G>C (p.Val953Leu)
 gnomAD v4
22g.50720711G=CA2411007772SHANK3c.2479G= (p.Val827=)
n.3063G=
c.1531G= (p.Val511=)
c.1021G= (p.Val341=)
c.*1477G= (n.*1477G=)
c.2875G= (p.Val959=)
c.2857G= (p.Val953=)
22g.50720711G>TCA515260070SHANK3c.2479G>T (p.Val827Leu)
n.3063G>T
c.1531G>T (p.Val511Leu)
c.1021G>T (p.Val341Leu)
c.*1477G>T (n.*1477G>T)
c.2875G>T (p.Val959Leu)
c.2857G>T (p.Val953Leu)
 gnomAD v4
22g.50720712T>ACA515260072SHANK3c.2480T>A (p.Val827Glu)
n.3064T>A
c.1532T>A (p.Val511Glu)
c.1022T>A (p.Val341Glu)
c.*1478T>A (n.*1478T>A)
c.2876T>A (p.Val959Glu)
c.2858T>A (p.Val953Glu)
22g.50720712T>CCA515260073SHANK3c.2480T>C (p.Val827Ala)
n.3064T>C
c.1532T>C (p.Val511Ala)
c.1022T>C (p.Val341Ala)
c.*1478T>C (n.*1478T>C)
c.2876T>C (p.Val959Ala)
c.2858T>C (p.Val953Ala)
 gnomAD v4
22g.50720712T>GCA515260074SHANK3c.2480T>G (p.Val827Gly)
n.3064T>G
c.1532T>G (p.Val511Gly)
c.1022T>G (p.Val341Gly)
c.*1478T>G (n.*1478T>G)
c.2876T>G (p.Val959Gly)
c.2858T>G (p.Val953Gly)
 gnomAD v4
22g.50720713G>ACA515260075SHANK3c.2481G>A (p.Val827=)
n.3065G>A
c.1533G>A (p.Val511=)
c.1023G>A (p.Val341=)
c.*1479G>A (n.*1479G>A)
c.2877G>A (p.Val959=)
c.2859G>A (p.Val953=)
 dbSNP gnomAD v4
22g.50720713G>CCA515260076SHANK3c.2481G>C (p.Val827=)
n.3065G>C
c.1533G>C (p.Val511=)
c.1023G>C (p.Val341=)
c.*1479G>C (n.*1479G>C)
c.2877G>C (p.Val959=)
c.2859G>C (p.Val953=)
 gnomAD v4
22g.50720713G=CA2411007773SHANK3c.2481G= (p.Val827=)
n.3065G=
c.1533G= (p.Val511=)
c.1023G= (p.Val341=)
c.*1479G= (n.*1479G=)
c.2877G= (p.Val959=)
c.2859G= (p.Val953=)
22g.50720713G>TCA515260077SHANK3c.2481G>T (p.Val827=)
n.3065G>T
c.1533G>T (p.Val511=)
c.1023G>T (p.Val341=)
c.*1479G>T (n.*1479G>T)
c.2877G>T (p.Val959=)
c.2859G>T (p.Val953=)
 gnomAD v4
22g.50720714delCA2657583390SHANK3c.2482del (p.Glu828ArgfsTer?)
n.3066del
c.1534del (p.Glu512ArgfsTer?)
c.1024del (p.Glu342ArgfsTer?)
c.*1480del (n.*1480del)
c.2878del (p.Glu960ArgfsTer?)
c.2860del (p.Glu954ArgfsTer?)
 gnomAD v4
22g.50720716_50720718delCA2657583391SHANK3c.2484_2486del (p.Glu828del)
n.3068_3070del
c.1536_1538del (p.Glu512del)
c.1026_1028del (p.Glu342del)
c.*1482_*1484del (n.*1482_*1484del)
c.2880_2882del (p.Glu960del)
c.2862_2864del (p.Glu954del)
 gnomAD v4
22g.50720714G>ACA515260080SHANK3c.2482G>A (p.Glu828Lys)
n.3066G>A
c.1534G>A (p.Glu512Lys)
c.1024G>A (p.Glu342Lys)
c.*1480G>A (n.*1480G>A)
c.2878G>A (p.Glu960Lys)
c.2860G>A (p.Glu954Lys)
 gnomAD v4
22g.50720714G>CCA515260079SHANK3c.2482G>C (p.Glu828Gln)
n.3066G>C
c.1534G>C (p.Glu512Gln)
c.1024G>C (p.Glu342Gln)
c.*1480G>C (n.*1480G>C)
c.2878G>C (p.Glu960Gln)
c.2860G>C (p.Glu954Gln)
 gnomAD v4
22g.50720714G>TCA515260078SHANK3c.2482G>T (p.Glu828Ter)
n.3066G>T
c.1534G>T (p.Glu512Ter)
c.1024G>T (p.Glu342Ter)
c.*1480G>T (n.*1480G>T)
c.2878G>T (p.Glu960Ter)
c.2860G>T (p.Glu954Ter)
 gnomAD v4
22g.50720715delCA2657583392SHANK3c.2483del (p.Glu828GlyfsTer?)
n.3067del
c.1535del (p.Glu512GlyfsTer?)
c.1025del (p.Glu342GlyfsTer?)
c.*1481del (n.*1481del)
c.2879del (p.Glu960GlyfsTer?)
c.2861del (p.Glu954GlyfsTer?)
 gnomAD v4
22g.50720715A>CCA515260081SHANK3c.2483A>C (p.Glu828Ala)
n.3067A>C
c.1535A>C (p.Glu512Ala)
c.1025A>C (p.Glu342Ala)
c.*1481A>C (n.*1481A>C)
c.2879A>C (p.Glu960Ala)
c.2861A>C (p.Glu954Ala)
 gnomAD v4
22g.50720715A>GCA515260082SHANK3c.2483A>G (p.Glu828Gly)
n.3067A>G
c.1535A>G (p.Glu512Gly)
c.1025A>G (p.Glu342Gly)
c.*1481A>G (n.*1481A>G)
c.2879A>G (p.Glu960Gly)
c.2861A>G (p.Glu954Gly)
 gnomAD v4
22g.50720715A>TCA515260083SHANK3c.2483A>T (p.Glu828Val)
n.3067A>T
c.1535A>T (p.Glu512Val)
c.1025A>T (p.Glu342Val)
c.*1481A>T (n.*1481A>T)
c.2879A>T (p.Glu960Val)
c.2861A>T (p.Glu954Val)
 gnomAD v4
22g.50720716G>ACA515260084SHANK3c.2484G>A (p.Glu828=)
n.3068G>A
c.1536G>A (p.Glu512=)
c.1026G>A (p.Glu342=)
c.*1482G>A (n.*1482G>A)
c.2880G>A (p.Glu960=)
c.2862G>A (p.Glu954=)
 gnomAD v4
22g.50720716G>CCA515260085SHANK3c.2484G>C (p.Glu828Asp)
n.3068G>C
c.1536G>C (p.Glu512Asp)
c.1026G>C (p.Glu342Asp)
c.*1482G>C (n.*1482G>C)
c.2880G>C (p.Glu960Asp)
c.2862G>C (p.Glu954Asp)
22g.50720716G>TCA515260086SHANK3c.2484G>T (p.Glu828Asp)
n.3068G>T
c.1536G>T (p.Glu512Asp)
c.1026G>T (p.Glu342Asp)
c.*1482G>T (n.*1482G>T)
c.2880G>T (p.Glu960Asp)
c.2862G>T (p.Glu954Asp)
 gnomAD v4
22g.50720717G>ACA515260087SHANK3c.2485G>A (p.Asp829Asn)
n.3069G>A
c.1537G>A (p.Asp513Asn)
c.1027G>A (p.Asp343Asn)
c.*1483G>A (n.*1483G>A)
c.2881G>A (p.Asp961Asn)
c.2863G>A (p.Asp955Asn)
 gnomAD v4
22g.50720717G>CCA515260089SHANK3c.2485G>C (p.Asp829His)
n.3069G>C
c.1537G>C (p.Asp513His)
c.1027G>C (p.Asp343His)
c.*1483G>C (n.*1483G>C)
c.2881G>C (p.Asp961His)
c.2863G>C (p.Asp955His)
 gnomAD v4
22g.50720717G>TCA515260088SHANK3c.2485G>T (p.Asp829Tyr)
n.3069G>T
c.1537G>T (p.Asp513Tyr)
c.1027G>T (p.Asp343Tyr)
c.*1483G>T (n.*1483G>T)
c.2881G>T (p.Asp961Tyr)
c.2863G>T (p.Asp955Tyr)
 gnomAD v4
22g.50720718A>CCA515260090SHANK3c.2486A>C (p.Asp829Ala)
n.3070A>C
c.1538A>C (p.Asp513Ala)
c.1028A>C (p.Asp343Ala)
c.*1484A>C (n.*1484A>C)
c.2882A>C (p.Asp961Ala)
c.2864A>C (p.Asp955Ala)
22g.50720718A>GCA515260091SHANK3c.2486A>G (p.Asp829Gly)
n.3070A>G
c.1538A>G (p.Asp513Gly)
c.1028A>G (p.Asp343Gly)
c.*1484A>G (n.*1484A>G)
c.2882A>G (p.Asp961Gly)
c.2864A>G (p.Asp955Gly)
 gnomAD v4
22g.50720718A>TCA515260092SHANK3c.2486A>T (p.Asp829Val)
n.3070A>T
c.1538A>T (p.Asp513Val)
c.1028A>T (p.Asp343Val)
c.*1484A>T (n.*1484A>T)
c.2882A>T (p.Asp961Val)
c.2864A>T (p.Asp955Val)
22g.50720719delCA2657583393SHANK3c.2487del (p.Asp829GlufsTer?)
n.3071del
c.1539del (p.Asp513GlufsTer?)
c.1029del (p.Asp343GlufsTer?)
c.*1485del (n.*1485del)
c.2883del (p.Asp961GlufsTer?)
c.2865del (p.Asp955GlufsTer?)
 gnomAD v4
22g.50720719C>ACA515260093SHANK3c.2487C>A (p.Asp829Glu)
n.3071C>A
c.1539C>A (p.Asp513Glu)
c.1029C>A (p.Asp343Glu)
c.*1485C>A (n.*1485C>A)
c.2883C>A (p.Asp961Glu)
c.2865C>A (p.Asp955Glu)
 gnomAD v4
22g.50720719C>GCA515260094SHANK3c.2487C>G (p.Asp829Glu)
n.3071C>G
c.1539C>G (p.Asp513Glu)
c.1029C>G (p.Asp343Glu)
c.*1485C>G (n.*1485C>G)
c.2883C>G (p.Asp961Glu)
c.2865C>G (p.Asp955Glu)
22g.50720719C>TCA515260095SHANK3c.2487C>T (p.Asp829=)
n.3071C>T
c.1539C>T (p.Asp513=)
c.1029C>T (p.Asp343=)
c.*1485C>T (n.*1485C>T)
c.2883C>T (p.Asp961=)
c.2865C>T (p.Asp955=)
 gnomAD v4
22g.50720720G>ACA515260096SHANK3c.2488G>A (p.Ala830Thr)
n.3072G>A
c.1540G>A (p.Ala514Thr)
c.1030G>A (p.Ala344Thr)
c.*1486G>A (n.*1486G>A)
c.2884G>A (p.Ala962Thr)
c.2866G>A (p.Ala956Thr)
 dbSNP gnomAD v4
22g.50720720G>CCA515260097SHANK3c.2488G>C (p.Ala830Pro)
n.3072G>C
c.1540G>C (p.Ala514Pro)
c.1030G>C (p.Ala344Pro)
c.*1486G>C (n.*1486G>C)
c.2884G>C (p.Ala962Pro)
c.2866G>C (p.Ala956Pro)
 gnomAD v4
22g.50720720G=CA2411007774SHANK3c.2488G= (p.Ala830=)
n.3072G=
c.1540G= (p.Ala514=)
c.1030G= (p.Ala344=)
c.*1486G= (n.*1486G=)
c.2884G= (p.Ala962=)
c.2866G= (p.Ala956=)
22g.50720720G>TCA515260098SHANK3c.2488G>T (p.Ala830Ser)
n.3072G>T
c.1540G>T (p.Ala514Ser)
c.1030G>T (p.Ala344Ser)
c.*1486G>T (n.*1486G>T)
c.2884G>T (p.Ala962Ser)
c.2866G>T (p.Ala956Ser)
 gnomAD v4
22g.50720721delCA2657583394SHANK3c.2489del (p.Ala830GlyfsTer?)
n.3073del
c.1541del (p.Ala514GlyfsTer?)
c.1031del (p.Ala344GlyfsTer?)
c.*1487del (n.*1487del)
c.2885del (p.Ala962GlyfsTer?)
c.2867del (p.Ala956GlyfsTer?)
 gnomAD v4
22g.50720721C>ACA515260099SHANK3c.2489C>A (p.Ala830Glu)
n.3073C>A
c.1541C>A (p.Ala514Glu)
c.1031C>A (p.Ala344Glu)
c.*1487C>A (n.*1487C>A)
c.2885C>A (p.Ala962Glu)
c.2867C>A (p.Ala956Glu)
 gnomAD v4
22g.50720721C=CA2411007775SHANK3c.2489C= (p.Ala830=)
n.3073C=
c.1541C= (p.Ala514=)
c.1031C= (p.Ala344=)
c.*1487C= (n.*1487C=)
c.2885C= (p.Ala962=)
c.2867C= (p.Ala956=)
22g.50720721C>GCA515260100SHANK3c.2489C>G (p.Ala830Gly)
n.3073C>G
c.1541C>G (p.Ala514Gly)
c.1031C>G (p.Ala344Gly)
c.*1487C>G (n.*1487C>G)
c.2885C>G (p.Ala962Gly)
c.2867C>G (p.Ala956Gly)
22g.50720721C>TCA515260101SHANK3c.2489C>T (p.Ala830Val)
n.3073C>T
c.1541C>T (p.Ala514Val)
c.1031C>T (p.Ala344Val)
c.*1487C>T (n.*1487C>T)
c.2885C>T (p.Ala962Val)
c.2867C>T (p.Ala956Val)
 dbSNP gnomAD v4
22g.50720722G>ACA515260102SHANK3c.2490G>A (p.Ala830=)
n.3074G>A
c.1542G>A (p.Ala514=)
c.1032G>A (p.Ala344=)
c.*1488G>A (n.*1488G>A)
c.2886G>A (p.Ala962=)
c.2868G>A (p.Ala956=)
 dbSNP gnomAD v4
22g.50720722G>CCA10325936SHANK3c.2490G>C (p.Ala830=)
n.3074G>C
c.1542G>C (p.Ala514=)
c.1032G>C (p.Ala344=)
c.*1488G>C (n.*1488G>C)
c.2886G>C (p.Ala962=)
c.2868G>C (p.Ala956=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50720722G=CA2411007776SHANK3c.2490G= (p.Ala830=)
n.3074G=
c.1542G= (p.Ala514=)
c.1032G= (p.Ala344=)
c.*1488G= (n.*1488G=)
c.2886G= (p.Ala962=)
c.2868G= (p.Ala956=)
22g.50720722G>TCA515260103SHANK3c.2490G>T (p.Ala830=)
n.3074G>T
c.1542G>T (p.Ala514=)
c.1032G>T (p.Ala344=)
c.*1488G>T (n.*1488G>T)
c.2886G>T (p.Ala962=)
c.2868G>T (p.Ala956=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720723C>ACA515260104SHANK3c.2491C>A (p.Gln831Lys)
n.3075C>A
c.1543C>A (p.Gln515Lys)
c.1033C>A (p.Gln345Lys)
c.*1489C>A (n.*1489C>A)
c.2887C>A (p.Gln963Lys)
c.2869C>A (p.Gln957Lys)
 dbSNP gnomAD v3 gnomAD v4
22g.50720723C=CA2411007777SHANK3c.2491C= (p.Gln831=)
n.3075C=
c.1543C= (p.Gln515=)
c.1033C= (p.Gln345=)
c.*1489C= (n.*1489C=)
c.2887C= (p.Gln963=)
c.2869C= (p.Gln957=)
22g.50720723C>GCA515260105SHANK3c.2491C>G (p.Gln831Glu)
n.3075C>G
c.1543C>G (p.Gln515Glu)
c.1033C>G (p.Gln345Glu)
c.*1489C>G (n.*1489C>G)
c.2887C>G (p.Gln963Glu)
c.2869C>G (p.Gln957Glu)
 gnomAD v4
22g.50720723C>TCA515260106SHANK3c.2491C>T (p.Gln831Ter)
n.3075C>T
c.1543C>T (p.Gln515Ter)
c.1033C>T (p.Gln345Ter)
c.*1489C>T (n.*1489C>T)
c.2887C>T (p.Gln963Ter)
c.2869C>T (p.Gln957Ter)
 gnomAD v4
22g.50720724A>CCA515260107SHANK3c.2492A>C (p.Gln831Pro)
n.3076A>C
c.1544A>C (p.Gln515Pro)
c.1034A>C (p.Gln345Pro)
c.*1490A>C (n.*1490A>C)
c.2888A>C (p.Gln963Pro)
c.2870A>C (p.Gln957Pro)
 gnomAD v4
22g.50720724A>GCA515260108SHANK3c.2492A>G (p.Gln831Arg)
n.3076A>G
c.1544A>G (p.Gln515Arg)
c.1034A>G (p.Gln345Arg)
c.*1490A>G (n.*1490A>G)
c.2888A>G (p.Gln963Arg)
c.2870A>G (p.Gln957Arg)
 gnomAD v4
22g.50720724A>TCA515260109SHANK3c.2492A>T (p.Gln831Leu)
n.3076A>T
c.1544A>T (p.Gln515Leu)
c.1034A>T (p.Gln345Leu)
c.*1490A>T (n.*1490A>T)
c.2888A>T (p.Gln963Leu)
c.2870A>T (p.Gln957Leu)
 gnomAD v4
22g.50720725G>ACA515260110SHANK3c.2493G>A (p.Gln831=)
n.3077G>A
c.1545G>A (p.Gln515=)
c.1035G>A (p.Gln345=)
c.*1491G>A (n.*1491G>A)
c.2889G>A (p.Gln963=)
c.2871G>A (p.Gln957=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720725G>CCA515260111SHANK3c.2493G>C (p.Gln831His)
n.3077G>C
c.1545G>C (p.Gln515His)
c.1035G>C (p.Gln345His)
c.*1491G>C (n.*1491G>C)
c.2889G>C (p.Gln963His)
c.2871G>C (p.Gln957His)
 gnomAD v4
22g.50720725G=CA2411007778SHANK3c.2493G= (p.Gln831=)
n.3077G=
c.1545G= (p.Gln515=)
c.1035G= (p.Gln345=)
c.*1491G= (n.*1491G=)
c.2889G= (p.Gln963=)
c.2871G= (p.Gln957=)
22g.50720725G>TCA515260112SHANK3c.2493G>T (p.Gln831His)
n.3077G>T
c.1545G>T (p.Gln515His)
c.1035G>T (p.Gln345His)
c.*1491G>T (n.*1491G>T)
c.2889G>T (p.Gln963His)
c.2871G>T (p.Gln957His)
 gnomAD v4
22g.50720726G>ACA515260113SHANK3c.2494G>A (p.Glu832Lys)
n.3078G>A
c.1546G>A (p.Glu516Lys)
c.1036G>A (p.Glu346Lys)
c.*1492G>A (n.*1492G>A)
c.2890G>A (p.Glu964Lys)
c.2872G>A (p.Glu958Lys)
 gnomAD v4
22g.50720726G>CCA515260114SHANK3c.2494G>C (p.Glu832Gln)
n.3078G>C
c.1546G>C (p.Glu516Gln)
c.1036G>C (p.Glu346Gln)
c.*1492G>C (n.*1492G>C)
c.2890G>C (p.Glu964Gln)
c.2872G>C (p.Glu958Gln)
 gnomAD v4
22g.50720726G>TCA515260115SHANK3c.2494G>T (p.Glu832Ter)
n.3078G>T
c.1546G>T (p.Glu516Ter)
c.1036G>T (p.Glu346Ter)
c.*1492G>T (n.*1492G>T)
c.2890G>T (p.Glu964Ter)
c.2872G>T (p.Glu958Ter)
 gnomAD v4
22g.50720727A=CA2411007779SHANK3c.2495A= (p.Glu832=)
n.3079A=
c.1547A= (p.Glu516=)
c.1037A= (p.Glu346=)
c.*1493A= (n.*1493A=)
c.2891A= (p.Glu964=)
c.2873A= (p.Glu958=)
22g.50720727A>CCA515260118SHANK3c.2495A>C (p.Glu832Ala)
n.3079A>C
c.1547A>C (p.Glu516Ala)
c.1037A>C (p.Glu346Ala)
c.*1493A>C (n.*1493A>C)
c.2891A>C (p.Glu964Ala)
c.2873A>C (p.Glu958Ala)
22g.50720727A>GCA515260117SHANK3c.2495A>G (p.Glu832Gly)
n.3079A>G
c.1547A>G (p.Glu516Gly)
c.1037A>G (p.Glu346Gly)
c.*1493A>G (n.*1493A>G)
c.2891A>G (p.Glu964Gly)
c.2873A>G (p.Glu958Gly)
 dbSNP gnomAD v3 gnomAD v4
22g.50720727A>TCA515260116SHANK3c.2495A>T (p.Glu832Val)
n.3079A>T
c.1547A>T (p.Glu516Val)
c.1037A>T (p.Glu346Val)
c.*1493A>T (n.*1493A>T)
c.2891A>T (p.Glu964Val)
c.2873A>T (p.Glu958Val)
22g.50720728G>ACA515260119SHANK3c.2496G>A (p.Glu832=)
n.3080G>A
c.1548G>A (p.Glu516=)
c.1038G>A (p.Glu346=)
c.*1494G>A (n.*1494G>A)
c.2892G>A (p.Glu964=)
c.2874G>A (p.Glu958=)
 gnomAD v4
22g.50720728G>CCA515260120SHANK3c.2496G>C (p.Glu832Asp)
n.3080G>C
c.1548G>C (p.Glu516Asp)
c.1038G>C (p.Glu346Asp)
c.*1494G>C (n.*1494G>C)
c.2892G>C (p.Glu964Asp)
c.2874G>C (p.Glu958Asp)
22g.50720728G>TCA515260121SHANK3c.2496G>T (p.Glu832Asp)
n.3080G>T
c.1548G>T (p.Glu516Asp)
c.1038G>T (p.Glu346Asp)
c.*1494G>T (n.*1494G>T)
c.2892G>T (p.Glu964Asp)
c.2874G>T (p.Glu958Asp)
 gnomAD v4
22g.50720729C>ACA515260122SHANK3c.2497C>A (p.Arg833Ser)
n.3081C>A
c.1549C>A (p.Arg517Ser)
c.1039C>A (p.Arg347Ser)
c.*1495C>A (n.*1495C>A)
c.2893C>A (p.Arg965Ser)
c.2875C>A (p.Arg959Ser)
 gnomAD v4
22g.50720729C>GCA515260123SHANK3c.2497C>G (p.Arg833Gly)
n.3081C>G
c.1549C>G (p.Arg517Gly)
c.1039C>G (p.Arg347Gly)
c.*1495C>G (n.*1495C>G)
c.2893C>G (p.Arg965Gly)
c.2875C>G (p.Arg959Gly)
 gnomAD v4
22g.50720729C>TCA515260124SHANK3c.2497C>T (p.Arg833Cys)
n.3081C>T
c.1549C>T (p.Arg517Cys)
c.1039C>T (p.Arg347Cys)
c.*1495C>T (n.*1495C>T)
c.2893C>T (p.Arg965Cys)
c.2875C>T (p.Arg959Cys)
 gnomAD v4
22g.50720730G>ACA325578258SHANK3c.2498G>A (p.Arg833His)
n.3082G>A
c.1550G>A (p.Arg517His)
c.1040G>A (p.Arg347His)
c.*1496G>A (n.*1496G>A)
c.2894G>A (p.Arg965His)
c.2876G>A (p.Arg959His)
 dbSNP gnomAD v4
22g.50720730G>CCA515260125SHANK3c.2498G>C (p.Arg833Pro)
n.3082G>C
c.1550G>C (p.Arg517Pro)
c.1040G>C (p.Arg347Pro)
c.*1496G>C (n.*1496G>C)
c.2894G>C (p.Arg965Pro)
c.2876G>C (p.Arg959Pro)
 gnomAD v4
22g.50720730G=CA2411007780SHANK3c.2498G= (p.Arg833=)
n.3082G=
c.1550G= (p.Arg517=)
c.1040G= (p.Arg347=)
c.*1496G= (n.*1496G=)
c.2894G= (p.Arg965=)
c.2876G= (p.Arg959=)
22g.50720730G>TCA515260126SHANK3c.2498G>T (p.Arg833Leu)
n.3082G>T
c.1550G>T (p.Arg517Leu)
c.1040G>T (p.Arg347Leu)
c.*1496G>T (n.*1496G>T)
c.2894G>T (p.Arg965Leu)
c.2876G>T (p.Arg959Leu)
 gnomAD v4
22g.50720731C>ACA515260127SHANK3c.2499C>A (p.Arg833=)
n.3083C>A
c.1551C>A (p.Arg517=)
c.1041C>A (p.Arg347=)
c.*1497C>A (n.*1497C>A)
c.2895C>A (p.Arg965=)
c.2877C>A (p.Arg959=)
 gnomAD v4
22g.50720731C=CA2411007781SHANK3c.2499C= (p.Arg833=)
n.3083C=
c.1551C= (p.Arg517=)
c.1041C= (p.Arg347=)
c.*1497C= (n.*1497C=)
c.2895C= (p.Arg965=)
c.2877C= (p.Arg959=)
22g.50720731C>GCA515260128SHANK3c.2499C>G (p.Arg833=)
n.3083C>G
c.1551C>G (p.Arg517=)
c.1041C>G (p.Arg347=)
c.*1497C>G (n.*1497C>G)
c.2895C>G (p.Arg965=)
c.2877C>G (p.Arg959=)
 gnomAD v4
22g.50720731C>TCA515260129SHANK3c.2499C>T (p.Arg833=)
n.3083C>T
c.1551C>T (p.Arg517=)
c.1041C>T (p.Arg347=)
c.*1497C>T (n.*1497C>T)
c.2895C>T (p.Arg965=)
c.2877C>T (p.Arg959=)
 dbSNP gnomAD v4
22g.50720732G>ACA515260130SHANK3c.2500G>A (p.Ala834Thr)
n.3084G>A
c.1552G>A (p.Ala518Thr)
c.1042G>A (p.Ala348Thr)
c.*1498G>A (n.*1498G>A)
c.2896G>A (p.Ala966Thr)
c.2878G>A (p.Ala960Thr)
 gnomAD v4
22g.50720732G>CCA325578260SHANK3c.2500G>C (p.Ala834Pro)
n.3084G>C
c.1552G>C (p.Ala518Pro)
c.1042G>C (p.Ala348Pro)
c.*1498G>C (n.*1498G>C)
c.2896G>C (p.Ala966Pro)
c.2878G>C (p.Ala960Pro)
 dbSNP gnomAD v4
22g.50720732G=CA2411007782SHANK3c.2500G= (p.Ala834=)
n.3084G=
c.1552G= (p.Ala518=)
c.1042G= (p.Ala348=)
c.*1498G= (n.*1498G=)
c.2896G= (p.Ala966=)
c.2878G= (p.Ala960=)
22g.50720732G>TCA515260131SHANK3c.2500G>T (p.Ala834Ser)
n.3084G>T
c.1552G>T (p.Ala518Ser)
c.1042G>T (p.Ala348Ser)
c.*1498G>T (n.*1498G>T)
c.2896G>T (p.Ala966Ser)
c.2878G>T (p.Ala960Ser)
 gnomAD v4
22g.50720733C>ACA515260132SHANK3c.2501C>A (p.Ala834Glu)
n.3085C>A
c.1553C>A (p.Ala518Glu)
c.1043C>A (p.Ala348Glu)
c.*1499C>A (n.*1499C>A)
c.2897C>A (p.Ala966Glu)
c.2879C>A (p.Ala960Glu)
 gnomAD v4
22g.50720733C=CA2411007783SHANK3c.2501C= (p.Ala834=)
n.3085C=
c.1553C= (p.Ala518=)
c.1043C= (p.Ala348=)
c.*1499C= (n.*1499C=)
c.2897C= (p.Ala966=)
c.2879C= (p.Ala960=)
22g.50720733C>GCA515260134SHANK3c.2501C>G (p.Ala834Gly)
n.3085C>G
c.1553C>G (p.Ala518Gly)
c.1043C>G (p.Ala348Gly)
c.*1499C>G (n.*1499C>G)
c.2897C>G (p.Ala966Gly)
c.2879C>G (p.Ala960Gly)
 gnomAD v4
22g.50720733C>TCA515260133SHANK3c.2501C>T (p.Ala834Val)
n.3085C>T
c.1553C>T (p.Ala518Val)
c.1043C>T (p.Ala348Val)
c.*1499C>T (n.*1499C>T)
c.2897C>T (p.Ala966Val)
c.2879C>T (p.Ala960Val)
 dbSNP gnomAD v2 gnomAD v4
22g.50720734G>ACA515260135SHANK3c.2502G>A (p.Ala834=)
n.3086G>A
c.1554G>A (p.Ala518=)
c.1044G>A (p.Ala348=)
c.*1500G>A (n.*1500G>A)
c.2898G>A (p.Ala966=)
c.2880G>A (p.Ala960=)
 gnomAD v4
22g.50720734G>CCA515260136SHANK3c.2502G>C (p.Ala834=)
n.3086G>C
c.1554G>C (p.Ala518=)
c.1044G>C (p.Ala348=)
c.*1500G>C (n.*1500G>C)
c.2898G>C (p.Ala966=)
c.2880G>C (p.Ala960=)
 gnomAD v4
22g.50720734G>TCA515260137SHANK3c.2502G>T (p.Ala834=)
n.3086G>T
c.1554G>T (p.Ala518=)
c.1044G>T (p.Ala348=)
c.*1500G>T (n.*1500G>T)
c.2898G>T (p.Ala966=)
c.2880G>T (p.Ala960=)
 gnomAD v4
22g.50720735G>ACA515260138SHANK3c.2503G>A (p.Ala835Thr)
n.3087G>A
c.1555G>A (p.Ala519Thr)
c.1045G>A (p.Ala349Thr)
c.*1501G>A (n.*1501G>A)
c.2899G>A (p.Ala967Thr)
c.2881G>A (p.Ala961Thr)
 gnomAD v4
22g.50720735G>CCA515260139SHANK3c.2503G>C (p.Ala835Pro)
n.3087G>C
c.1555G>C (p.Ala519Pro)
c.1045G>C (p.Ala349Pro)
c.*1501G>C (n.*1501G>C)
c.2899G>C (p.Ala967Pro)
c.2881G>C (p.Ala961Pro)
 gnomAD v4
22g.50720735G=CA2411007784SHANK3c.2503G= (p.Ala835=)
n.3087G=
c.1555G= (p.Ala519=)
c.1045G= (p.Ala349=)
c.*1501G= (n.*1501G=)
c.2899G= (p.Ala967=)
c.2881G= (p.Ala961=)
22g.50720735G>TCA515260140SHANK3c.2503G>T (p.Ala835Ser)
n.3087G>T
c.1555G>T (p.Ala519Ser)
c.1045G>T (p.Ala349Ser)
c.*1501G>T (n.*1501G>T)
c.2899G>T (p.Ala967Ser)
c.2881G>T (p.Ala961Ser)
 gnomAD v4
22g.50720736C>ACA515260141SHANK3c.2504C>A (p.Ala835Asp)
n.3088C>A
c.1556C>A (p.Ala519Asp)
c.1046C>A (p.Ala349Asp)
c.*1502C>A (n.*1502C>A)
c.2900C>A (p.Ala967Asp)
c.2882C>A (p.Ala961Asp)
 ClinVar dbSNP gnomAD v4
22g.50720736C>GCA515260142SHANK3c.2504C>G (p.Ala835Gly)
n.3088C>G
c.1556C>G (p.Ala519Gly)
c.1046C>G (p.Ala349Gly)
c.*1502C>G (n.*1502C>G)
c.2900C>G (p.Ala967Gly)
c.2882C>G (p.Ala961Gly)
 gnomAD v4
22g.50720736C>TCA515260143SHANK3c.2504C>T (p.Ala835Val)
n.3088C>T
c.1556C>T (p.Ala519Val)
c.1046C>T (p.Ala349Val)
c.*1502C>T (n.*1502C>T)
c.2900C>T (p.Ala967Val)
c.2882C>T (p.Ala961Val)
 gnomAD v4
22g.50720738dupCA640358966SHANK3c.2506dup (p.Leu836ProfsTer?)
n.3090dup
c.1558dup (p.Leu520ProfsTer?)
c.1048dup (p.Leu350ProfsTer?)
c.*1504dup (n.*1504dup)
c.2902dup (p.Leu968ProfsTer?)
c.2884dup (p.Leu962ProfsTer?)
 dbSNP gnomAD v2
22g.50720738delCA2657583395SHANK3c.2506del (p.Leu836TrpfsTer?)
n.3090del
c.1558del (p.Leu520TrpfsTer?)
c.1048del (p.Leu350TrpfsTer?)
c.*1504del (n.*1504del)
c.2902del (p.Leu968TrpfsTer?)
c.2884del (p.Leu962TrpfsTer?)
 gnomAD v4
22g.50720737C>ACA515260144SHANK3c.2505C>A (p.Ala835=)
n.3089C>A
c.1557C>A (p.Ala519=)
c.1047C>A (p.Ala349=)
c.*1503C>A (n.*1503C>A)
c.2901C>A (p.Ala967=)
c.2883C>A (p.Ala961=)
 gnomAD v4
22g.50720737C>GCA515260145SHANK3c.2505C>G (p.Ala835=)
n.3089C>G
c.1557C>G (p.Ala519=)
c.1047C>G (p.Ala349=)
c.*1503C>G (n.*1503C>G)
c.2901C>G (p.Ala967=)
c.2883C>G (p.Ala961=)
22g.50720737C>TCA515260146SHANK3c.2505C>T (p.Ala835=)
n.3089C>T
c.1557C>T (p.Ala519=)
c.1047C>T (p.Ala349=)
c.*1503C>T (n.*1503C>T)
c.2901C>T (p.Ala967=)
c.2883C>T (p.Ala961=)
 gnomAD v4
22g.50720738C>ACA515260147SHANK3c.2506C>A (p.Leu836Met)
n.3090C>A
c.1558C>A (p.Leu520Met)
c.1048C>A (p.Leu350Met)
c.*1504C>A (n.*1504C>A)
c.2902C>A (p.Leu968Met)
c.2884C>A (p.Leu962Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50720738C=CA2411007785SHANK3c.2506C= (p.Leu836=)
n.3090C=
c.1558C= (p.Leu520=)
c.1048C= (p.Leu350=)
c.*1504C= (n.*1504C=)
c.2902C= (p.Leu968=)
c.2884C= (p.Leu962=)
22g.50720738C>GCA515260149SHANK3c.2506C>G (p.Leu836Val)
n.3090C>G
c.1558C>G (p.Leu520Val)
c.1048C>G (p.Leu350Val)
c.*1504C>G (n.*1504C>G)
c.2902C>G (p.Leu968Val)
c.2884C>G (p.Leu962Val)
 ClinVar
22g.50720738C>TCA515260148SHANK3c.2506C>T (p.Leu836=)
n.3090C>T
c.1558C>T (p.Leu520=)
c.1048C>T (p.Leu350=)
c.*1504C>T (n.*1504C>T)
c.2902C>T (p.Leu968=)
c.2884C>T (p.Leu962=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720738_50720741delinsCTGGCA2411007786SHANK3c.2506_2509delinsCTGG (p.Leu836=)
n.3090_3093delinsCTGG
c.1558_1561delinsCTGG (p.Leu520=)
c.1048_1051delinsCTGG (p.Leu350=)
c.*1504_*1507delinsCTGG (n.*1504_*1507delinsCTGG)
c.2902_2905delinsCTGG (p.Leu968=)
c.2884_2887delinsCTGG (p.Leu962=)
22g.50720739T>ACA515260150SHANK3c.2507T>A (p.Leu836Gln)
n.3091T>A
c.1559T>A (p.Leu520Gln)
c.1049T>A (p.Leu350Gln)
c.*1505T>A (n.*1505T>A)
c.2903T>A (p.Leu968Gln)
c.2885T>A (p.Leu962Gln)
 gnomAD v4
22g.50720739T>CCA515260151SHANK3c.2507T>C (p.Leu836Pro)
n.3091T>C
c.1559T>C (p.Leu520Pro)
c.1049T>C (p.Leu350Pro)
c.*1505T>C (n.*1505T>C)
c.2903T>C (p.Leu968Pro)
c.2885T>C (p.Leu962Pro)
 gnomAD v4
22g.50720739T>GCA515260152SHANK3c.2507T>G (p.Leu836Arg)
n.3091T>G
c.1559T>G (p.Leu520Arg)
c.1049T>G (p.Leu350Arg)
c.*1505T>G (n.*1505T>G)
c.2903T>G (p.Leu968Arg)
c.2885T>G (p.Leu962Arg)
 gnomAD v4
22g.50720739T=CA2411007787SHANK3c.2507T= (p.Leu836=)
n.3091T=
c.1559T= (p.Leu520=)
c.1049T= (p.Leu350=)
c.*1505T= (n.*1505T=)
c.2903T= (p.Leu968=)
c.2885T= (p.Leu962=)
22g.50720739_50720741delCA640358967SHANK3c.2507_2509del (p.Leu836_Ala837delinsPro)
n.3091_3093del
c.1559_1561del (p.Leu520_Ala521delinsPro)
c.1049_1051del (p.Leu350_Ala351delinsPro)
c.*1505_*1507del (n.*1505_*1507del)
c.2903_2905del (p.Leu968_Ala969delinsPro)
c.2885_2887del (p.Leu962_Ala963delinsPro)
 dbSNP gnomAD v2
22g.50720740G>ACA515260153SHANK3c.2508G>A (p.Leu836=)
n.3092G>A
c.1560G>A (p.Leu520=)
c.1050G>A (p.Leu350=)
c.*1506G>A (n.*1506G>A)
c.2904G>A (p.Leu968=)
c.2886G>A (p.Leu962=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720740G>CCA515260154SHANK3c.2508G>C (p.Leu836=)
n.3092G>C
c.1560G>C (p.Leu520=)
c.1050G>C (p.Leu350=)
c.*1506G>C (n.*1506G>C)
c.2904G>C (p.Leu968=)
c.2886G>C (p.Leu962=)
 gnomAD v4
22g.50720740G=CA2411007788SHANK3c.2508G= (p.Leu836=)
n.3092G=
c.1560G= (p.Leu520=)
c.1050G= (p.Leu350=)
c.*1506G= (n.*1506G=)
c.2904G= (p.Leu968=)
c.2886G= (p.Leu962=)
22g.50720740G>TCA515260155SHANK3c.2508G>T (p.Leu836=)
n.3092G>T
c.1560G>T (p.Leu520=)
c.1050G>T (p.Leu350=)
c.*1506G>T (n.*1506G>T)
c.2904G>T (p.Leu968=)
c.2886G>T (p.Leu962=)
 gnomAD v4
22g.50720741delCA2657583396SHANK3c.2509del (p.Ala837ProfsTer?)
n.3093del
c.1561del (p.Ala521ProfsTer?)
c.1051del (p.Ala351ProfsTer?)
c.*1507del (n.*1507del)
c.2905del (p.Ala969ProfsTer?)
c.2887del (p.Ala963ProfsTer?)
 gnomAD v4
22g.50720742_50720757dupCA10581460SHANK3c.2510_2525dup (p.Pro843ArgfsTer?)
n.3094_3109dup
c.1562_1577dup (p.Pro527ArgfsTer?)
c.1052_1067dup (p.Pro357ArgfsTer?)
c.*1508_*1523dup (n.*1508_*1523dup)
c.2906_2921dup (p.Pro975ArgfsTer?)
c.2888_2903dup (p.Pro969ArgfsTer?)
 ClinVar dbSNP
22g.50720741G>ACA515260156SHANK3c.2509G>A (p.Ala837Thr)
n.3093G>A
c.1561G>A (p.Ala521Thr)
c.1051G>A (p.Ala351Thr)
c.*1507G>A (n.*1507G>A)
c.2905G>A (p.Ala969Thr)
c.2887G>A (p.Ala963Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720741G>CCA515260157SHANK3c.2509G>C (p.Ala837Pro)
n.3093G>C
c.1561G>C (p.Ala521Pro)
c.1051G>C (p.Ala351Pro)
c.*1507G>C (n.*1507G>C)
c.2905G>C (p.Ala969Pro)
c.2887G>C (p.Ala963Pro)
 dbSNP gnomAD v3 gnomAD v4
22g.50720741G=CA2411007789SHANK3c.2509G= (p.Ala837=)
n.3093G=
c.1561G= (p.Ala521=)
c.1051G= (p.Ala351=)
c.*1507G= (n.*1507G=)
c.2905G= (p.Ala969=)
c.2887G= (p.Ala963=)
22g.50720741G>TCA10325937SHANK3c.2509G>T (p.Ala837Ser)
n.3093G>T
c.1561G>T (p.Ala521Ser)
c.1051G>T (p.Ala351Ser)
c.*1507G>T (n.*1507G>T)
c.2905G>T (p.Ala969Ser)
c.2887G>T (p.Ala963Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50720742C>ACA515260159SHANK3c.2510C>A (p.Ala837Asp)
n.3094C>A
c.1562C>A (p.Ala521Asp)
c.1052C>A (p.Ala351Asp)
c.*1508C>A (n.*1508C>A)
c.2906C>A (p.Ala969Asp)
c.2888C>A (p.Ala963Asp)
 gnomAD v4
22g.50720742C=CA2411007790SHANK3c.2510C= (p.Ala837=)
n.3094C=
c.1562C= (p.Ala521=)
c.1052C= (p.Ala351=)
c.*1508C= (n.*1508C=)
c.2906C= (p.Ala969=)
c.2888C= (p.Ala963=)
22g.50720742C>GCA515260160SHANK3c.2510C>G (p.Ala837Gly)
n.3094C>G
c.1562C>G (p.Ala521Gly)
c.1052C>G (p.Ala351Gly)
c.*1508C>G (n.*1508C>G)
c.2906C>G (p.Ala969Gly)
c.2888C>G (p.Ala963Gly)
 gnomAD v4
22g.50720742C>TCA515260158SHANK3c.2510C>T (p.Ala837Val)
n.3094C>T
c.1562C>T (p.Ala521Val)
c.1052C>T (p.Ala351Val)
c.*1508C>T (n.*1508C>T)
c.2906C>T (p.Ala969Val)
c.2888C>T (p.Ala963Val)
 dbSNP gnomAD v2 gnomAD v4
22g.50720743C>ACA515260161SHANK3c.2511C>A (p.Ala837=)
n.3095C>A
c.1563C>A (p.Ala521=)
c.1053C>A (p.Ala351=)
c.*1509C>A (n.*1509C>A)
c.2907C>A (p.Ala969=)
c.2889C>A (p.Ala963=)
 dbSNP gnomAD v4
22g.50720743C=CA2411007791SHANK3c.2511C= (p.Ala837=)
n.3095C=
c.1563C= (p.Ala521=)
c.1053C= (p.Ala351=)
c.*1509C= (n.*1509C=)
c.2907C= (p.Ala969=)
c.2889C= (p.Ala963=)
22g.50720743C>GCA515260162SHANK3c.2511C>G (p.Ala837=)
n.3095C>G
c.1563C>G (p.Ala521=)
c.1053C>G (p.Ala351=)
c.*1509C>G (n.*1509C>G)
c.2907C>G (p.Ala969=)
c.2889C>G (p.Ala963=)
 gnomAD v4
22g.50720743C>TCA325578267SHANK3c.2511C>T (p.Ala837=)
n.3095C>T
c.1563C>T (p.Ala521=)
c.1053C>T (p.Ala351=)
c.*1509C>T (n.*1509C>T)
c.2907C>T (p.Ala969=)
c.2889C>T (p.Ala963=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720744delCA2657583397SHANK3c.2512del (p.Val838TrpfsTer?)
n.3096del
c.1564del (p.Val522TrpfsTer?)
c.1054del (p.Val352TrpfsTer?)
c.*1510del (n.*1510del)
c.2908del (p.Val970TrpfsTer?)
c.2890del (p.Val964TrpfsTer?)
 gnomAD v4
22g.50720744G>ACA515260163SHANK3c.2512G>A (p.Val838Met)
n.3096G>A
c.1564G>A (p.Val522Met)
c.1054G>A (p.Val352Met)
c.*1510G>A (n.*1510G>A)
c.2908G>A (p.Val970Met)
c.2890G>A (p.Val964Met)
 dbSNP gnomAD v3 gnomAD v4
22g.50720744G>CCA515260164SHANK3c.2512G>C (p.Val838Leu)
n.3096G>C
c.1564G>C (p.Val522Leu)
c.1054G>C (p.Val352Leu)
c.*1510G>C (n.*1510G>C)
c.2908G>C (p.Val970Leu)
c.2890G>C (p.Val964Leu)
 gnomAD v4
22g.50720744G=CA2411007792SHANK3c.2512G= (p.Val838=)
n.3096G=
c.1564G= (p.Val522=)
c.1054G= (p.Val352=)
c.*1510G= (n.*1510G=)
c.2908G= (p.Val970=)
c.2890G= (p.Val964=)
22g.50720744G>TCA515260165SHANK3c.2512G>T (p.Val838Leu)
n.3096G>T
c.1564G>T (p.Val522Leu)
c.1054G>T (p.Val352Leu)
c.*1510G>T (n.*1510G>T)
c.2908G>T (p.Val970Leu)
c.2890G>T (p.Val964Leu)
 gnomAD v4
22g.50720745T>ACA515260166SHANK3c.2513T>A (p.Val838Glu)
n.3097T>A
c.1565T>A (p.Val522Glu)
c.1055T>A (p.Val352Glu)
c.*1511T>A (n.*1511T>A)
c.2909T>A (p.Val970Glu)
c.2891T>A (p.Val964Glu)
 gnomAD v4
22g.50720745T>CCA515260167SHANK3c.2513T>C (p.Val838Ala)
n.3097T>C
c.1565T>C (p.Val522Ala)
c.1055T>C (p.Val352Ala)
c.*1511T>C (n.*1511T>C)
c.2909T>C (p.Val970Ala)
c.2891T>C (p.Val964Ala)
 dbSNP gnomAD v2 gnomAD v4
22g.50720745T>GCA515260168SHANK3c.2513T>G (p.Val838Gly)
n.3097T>G
c.1565T>G (p.Val522Gly)
c.1055T>G (p.Val352Gly)
c.*1511T>G (n.*1511T>G)
c.2909T>G (p.Val970Gly)
c.2891T>G (p.Val964Gly)
22g.50720745T=CA2411007793SHANK3c.2513T= (p.Val838=)
n.3097T=
c.1565T= (p.Val522=)
c.1055T= (p.Val352=)
c.*1511T= (n.*1511T=)
c.2909T= (p.Val970=)
c.2891T= (p.Val964=)
22g.50720746G>ACA515260169SHANK3c.2514G>A (p.Val838=)
n.3098G>A
c.1566G>A (p.Val522=)
c.1056G>A (p.Val352=)
c.*1512G>A (n.*1512G>A)
c.2910G>A (p.Val970=)
c.2892G>A (p.Val964=)
 gnomAD v4
22g.50720746G>CCA515260170SHANK3c.2514G>C (p.Val838=)
n.3098G>C
c.1566G>C (p.Val522=)
c.1056G>C (p.Val352=)
c.*1512G>C (n.*1512G>C)
c.2910G>C (p.Val970=)
c.2892G>C (p.Val964=)
 dbSNP gnomAD v4
22g.50720746G=CA2411007794SHANK3c.2514G= (p.Val838=)
n.3098G=
c.1566G= (p.Val522=)
c.1056G= (p.Val352=)
c.*1512G= (n.*1512G=)
c.2910G= (p.Val970=)
c.2892G= (p.Val964=)
22g.50720746G>TCA515260171SHANK3c.2514G>T (p.Val838=)
n.3098G>T
c.1566G>T (p.Val522=)
c.1056G>T (p.Val352=)
c.*1512G>T (n.*1512G>T)
c.2910G>T (p.Val970=)
c.2892G>T (p.Val964=)
 gnomAD v4
22g.50720748delCA2657583398SHANK3c.2516del (p.Gly839AlafsTer?)
n.3100del
c.1568del (p.Gly523AlafsTer?)
c.1058del (p.Gly353AlafsTer?)
c.*1514del (n.*1514del)
c.2912del (p.Gly971AlafsTer?)
c.2894del (p.Gly965AlafsTer?)
 gnomAD v4
22g.50720747_50720748delCA2819316001SHANK3c.2515_2516del (p.Gly839GlnfsTer?)
n.3099_3100del
c.1567_1568del (p.Gly523GlnfsTer?)
c.1057_1058del (p.Gly353GlnfsTer?)
c.*1513_*1514del (n.*1513_*1514del)
c.2911_2912del (p.Gly971GlnfsTer?)
c.2893_2894del (p.Gly965GlnfsTer?)
22g.50720747G>ACA515260174SHANK3c.2515G>A (p.Gly839Ser)
n.3099G>A
c.1567G>A (p.Gly523Ser)
c.1057G>A (p.Gly353Ser)
c.*1513G>A (n.*1513G>A)
c.2911G>A (p.Gly971Ser)
c.2893G>A (p.Gly965Ser)
 gnomAD v4
22g.50720747G>CCA515260172SHANK3c.2515G>C (p.Gly839Arg)
n.3099G>C
c.1567G>C (p.Gly523Arg)
c.1057G>C (p.Gly353Arg)
c.*1513G>C (n.*1513G>C)
c.2911G>C (p.Gly971Arg)
c.2893G>C (p.Gly965Arg)
 gnomAD v4
22g.50720747G>TCA515260173SHANK3c.2515G>T (p.Gly839Cys)
n.3099G>T
c.1567G>T (p.Gly523Cys)
c.1057G>T (p.Gly353Cys)
c.*1513G>T (n.*1513G>T)
c.2911G>T (p.Gly971Cys)
c.2893G>T (p.Gly965Cys)
 gnomAD v4
22g.50720748G>ACA515260175SHANK3c.2516G>A (p.Gly839Asp)
n.3100G>A
c.1568G>A (p.Gly523Asp)
c.1058G>A (p.Gly353Asp)
c.*1514G>A (n.*1514G>A)
c.2912G>A (p.Gly971Asp)
c.2894G>A (p.Gly965Asp)
 gnomAD v4
22g.50720748G>CCA515260176SHANK3c.2516G>C (p.Gly839Ala)
n.3100G>C
c.1568G>C (p.Gly523Ala)
c.1058G>C (p.Gly353Ala)
c.*1514G>C (n.*1514G>C)
c.2912G>C (p.Gly971Ala)
c.2894G>C (p.Gly965Ala)
22g.50720748G>TCA515260177SHANK3c.2516G>T (p.Gly839Val)
n.3100G>T
c.1568G>T (p.Gly523Val)
c.1058G>T (p.Gly353Val)
c.*1514G>T (n.*1514G>T)
c.2912G>T (p.Gly971Val)
c.2894G>T (p.Gly965Val)
 gnomAD v4
22g.50720749C>ACA515260178SHANK3c.2517C>A (p.Gly839=)
n.3101C>A
c.1569C>A (p.Gly523=)
c.1059C>A (p.Gly353=)
c.*1515C>A (n.*1515C>A)
c.2913C>A (p.Gly971=)
c.2895C>A (p.Gly965=)
 gnomAD v4
22g.50720749C=CA2411007795SHANK3c.2517C= (p.Gly839=)
n.3101C=
c.1569C= (p.Gly523=)
c.1059C= (p.Gly353=)
c.*1515C= (n.*1515C=)
c.2913C= (p.Gly971=)
c.2895C= (p.Gly965=)
22g.50720749C>GCA515260179SHANK3c.2517C>G (p.Gly839=)
n.3101C>G
c.1569C>G (p.Gly523=)
c.1059C>G (p.Gly353=)
c.*1515C>G (n.*1515C>G)
c.2913C>G (p.Gly971=)
c.2895C>G (p.Gly965=)
 gnomAD v4
22g.50720749C>TCA515260180SHANK3c.2517C>T (p.Gly839=)
n.3101C>T
c.1569C>T (p.Gly523=)
c.1059C>T (p.Gly353=)
c.*1515C>T (n.*1515C>T)
c.2913C>T (p.Gly971=)
c.2895C>T (p.Gly965=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720750A>CCA515260181SHANK3c.2518A>C (p.Ser840Arg)
n.3102A>C
c.1570A>C (p.Ser524Arg)
c.1060A>C (p.Ser354Arg)
c.*1516A>C (n.*1516A>C)
c.2914A>C (p.Ser972Arg)
c.2896A>C (p.Ser966Arg)
 gnomAD v4
22g.50720750A>GCA515260182SHANK3c.2518A>G (p.Ser840Gly)
n.3102A>G
c.1570A>G (p.Ser524Gly)
c.1060A>G (p.Ser354Gly)
c.*1516A>G (n.*1516A>G)
c.2914A>G (p.Ser972Gly)
c.2896A>G (p.Ser966Gly)
 gnomAD v4
22g.50720750A>TCA515260183SHANK3c.2518A>T (p.Ser840Cys)
n.3102A>T
c.1570A>T (p.Ser524Cys)
c.1060A>T (p.Ser354Cys)
c.*1516A>T (n.*1516A>T)
c.2914A>T (p.Ser972Cys)
c.2896A>T (p.Ser966Cys)
 gnomAD v4
22g.50720751G>ACA515260184SHANK3c.2519G>A (p.Ser840Asn)
n.3103G>A
c.1571G>A (p.Ser524Asn)
c.1061G>A (p.Ser354Asn)
c.*1517G>A (n.*1517G>A)
c.2915G>A (p.Ser972Asn)
c.2897G>A (p.Ser966Asn)
 gnomAD v4
22g.50720751G>CCA515260185SHANK3c.2519G>C (p.Ser840Thr)
n.3103G>C
c.1571G>C (p.Ser524Thr)
c.1061G>C (p.Ser354Thr)
c.*1517G>C (n.*1517G>C)
c.2915G>C (p.Ser972Thr)
c.2897G>C (p.Ser966Thr)
 gnomAD v4
22g.50720751G=CA2411007796SHANK3c.2519G= (p.Ser840=)
n.3103G=
c.1571G= (p.Ser524=)
c.1061G= (p.Ser354=)
c.*1517G= (n.*1517G=)
c.2915G= (p.Ser972=)
c.2897G= (p.Ser966=)
22g.50720751G>TCA515260186SHANK3c.2519G>T (p.Ser840Ile)
n.3103G>T
c.1571G>T (p.Ser524Ile)
c.1061G>T (p.Ser354Ile)
c.*1517G>T (n.*1517G>T)
c.2915G>T (p.Ser972Ile)
c.2897G>T (p.Ser966Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720752C>ACA515260187SHANK3c.2520C>A (p.Ser840Arg)
n.3104C>A
c.1572C>A (p.Ser524Arg)
c.1062C>A (p.Ser354Arg)
c.*1518C>A (n.*1518C>A)
c.2916C>A (p.Ser972Arg)
c.2898C>A (p.Ser966Arg)
 gnomAD v4
22g.50720752C=CA2411007797SHANK3c.2520C= (p.Ser840=)
n.3104C=
c.1572C= (p.Ser524=)
c.1062C= (p.Ser354=)
c.*1518C= (n.*1518C=)
c.2916C= (p.Ser972=)
c.2898C= (p.Ser966=)
22g.50720752C>GCA515260188SHANK3c.2520C>G (p.Ser840Arg)
n.3104C>G
c.1572C>G (p.Ser524Arg)
c.1062C>G (p.Ser354Arg)
c.*1518C>G (n.*1518C>G)
c.2916C>G (p.Ser972Arg)
c.2898C>G (p.Ser966Arg)
 gnomAD v4
22g.50720752C>TCA10325938SHANK3c.2520C>T (p.Ser840=)
n.3104C>T
c.1572C>T (p.Ser524=)
c.1062C>T (p.Ser354=)
c.*1518C>T (n.*1518C>T)
c.2916C>T (p.Ser972=)
c.2898C>T (p.Ser966=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50720755delCA2657583399SHANK3c.2523del (p.Gly842ValfsTer?)
n.3107del
c.1575del (p.Gly526ValfsTer?)
c.1065del (p.Gly356ValfsTer?)
c.*1521del (n.*1521del)
c.2919del (p.Gly974ValfsTer?)
c.2901del (p.Gly968ValfsTer?)
 gnomAD v4
22g.50720753C>ACA515260190SHANK3c.2521C>A (p.Pro841Thr)
n.3105C>A
c.1573C>A (p.Pro525Thr)
c.1063C>A (p.Pro355Thr)
c.*1519C>A (n.*1519C>A)
c.2917C>A (p.Pro973Thr)
c.2899C>A (p.Pro967Thr)
 gnomAD v4
22g.50720753C=CA2411007798SHANK3c.2521C= (p.Pro841=)
n.3105C=
c.1573C= (p.Pro525=)
c.1063C= (p.Pro355=)
c.*1519C= (n.*1519C=)
c.2917C= (p.Pro973=)
c.2899C= (p.Pro967=)
22g.50720753C>GCA515260189SHANK3c.2521C>G (p.Pro841Ala)
n.3105C>G
c.1573C>G (p.Pro525Ala)
c.1063C>G (p.Pro355Ala)
c.*1519C>G (n.*1519C>G)
c.2917C>G (p.Pro973Ala)
c.2899C>G (p.Pro967Ala)
22g.50720753C>TCA10325939SHANK3c.2521C>T (p.Pro841Ser)
n.3105C>T
c.1573C>T (p.Pro525Ser)
c.1063C>T (p.Pro355Ser)
c.*1519C>T (n.*1519C>T)
c.2917C>T (p.Pro973Ser)
c.2899C>T (p.Pro967Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50720754C>ACA515260191SHANK3c.2522C>A (p.Pro841His)
n.3106C>A
c.1574C>A (p.Pro525His)
c.1064C>A (p.Pro355His)
c.*1520C>A (n.*1520C>A)
c.2918C>A (p.Pro973His)
c.2900C>A (p.Pro967His)
 gnomAD v4
22g.50720754C=CA2411007799SHANK3c.2522C= (p.Pro841=)
n.3106C=
c.1574C= (p.Pro525=)
c.1064C= (p.Pro355=)
c.*1520C= (n.*1520C=)
c.2918C= (p.Pro973=)
c.2900C= (p.Pro967=)
22g.50720754C>GCA515260192SHANK3c.2522C>G (p.Pro841Arg)
n.3106C>G
c.1574C>G (p.Pro525Arg)
c.1064C>G (p.Pro355Arg)
c.*1520C>G (n.*1520C>G)
c.2918C>G (p.Pro973Arg)
c.2900C>G (p.Pro967Arg)
 gnomAD v4
22g.50720754C>TCA515260193SHANK3c.2522C>T (p.Pro841Leu)
n.3106C>T
c.1574C>T (p.Pro525Leu)
c.1064C>T (p.Pro355Leu)
c.*1520C>T (n.*1520C>T)
c.2918C>T (p.Pro973Leu)
c.2900C>T (p.Pro967Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.50720755C>ACA515260196SHANK3c.2523C>A (p.Pro841=)
n.3107C>A
c.1575C>A (p.Pro525=)
c.1065C>A (p.Pro355=)
c.*1521C>A (n.*1521C>A)
c.2919C>A (p.Pro973=)
c.2901C>A (p.Pro967=)
 gnomAD v4
22g.50720755C=CA2411007800SHANK3c.2523C= (p.Pro841=)
n.3107C=
c.1575C= (p.Pro525=)
c.1065C= (p.Pro355=)
c.*1521C= (n.*1521C=)
c.2919C= (p.Pro973=)
c.2901C= (p.Pro967=)
22g.50720755C>GCA515260195SHANK3c.2523C>G (p.Pro841=)
n.3107C>G
c.1575C>G (p.Pro525=)
c.1065C>G (p.Pro355=)
c.*1521C>G (n.*1521C>G)
c.2919C>G (p.Pro973=)
c.2901C>G (p.Pro967=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720755C>TCA515260194SHANK3c.2523C>T (p.Pro841=)
n.3107C>T
c.1575C>T (p.Pro525=)
c.1065C>T (p.Pro355=)
c.*1521C>T (n.*1521C>T)
c.2919C>T (p.Pro973=)
c.2901C>T (p.Pro967=)
 dbSNP gnomAD v4
22g.50720755_50720756insTCA2657583400SHANK3c.2523_2524insT (p.Gly842TrpfsTer?)
n.3107_3108insT
c.1575_1576insT (p.Gly526TrpfsTer?)
c.1065_1066insT (p.Gly356TrpfsTer?)
c.*1521_*1522insT (n.*1521_*1522insT)
c.2919_2920insT (p.Gly974TrpfsTer?)
c.2901_2902insT (p.Gly968TrpfsTer?)
 gnomAD v4
22g.50720756G>ACA515260197SHANK3c.2524G>A (p.Gly842Ser)
n.3108G>A
c.1576G>A (p.Gly526Ser)
c.1066G>A (p.Gly356Ser)
c.*1522G>A (n.*1522G>A)
c.2920G>A (p.Gly974Ser)
c.2902G>A (p.Gly968Ser)
 gnomAD v4
22g.50720756G>CCA515260198SHANK3c.2524G>C (p.Gly842Arg)
n.3108G>C
c.1576G>C (p.Gly526Arg)
c.1066G>C (p.Gly356Arg)
c.*1522G>C (n.*1522G>C)
c.2920G>C (p.Gly974Arg)
c.2902G>C (p.Gly968Arg)
 gnomAD v4
22g.50720756G>TCA515260199SHANK3c.2524G>T (p.Gly842Cys)
n.3108G>T
c.1576G>T (p.Gly526Cys)
c.1066G>T (p.Gly356Cys)
c.*1522G>T (n.*1522G>T)
c.2920G>T (p.Gly974Cys)
c.2902G>T (p.Gly968Cys)
 gnomAD v4
22g.50720757G>ACA515260200SHANK3c.2525G>A (p.Gly842Asp)
n.3109G>A
c.1577G>A (p.Gly526Asp)
c.1067G>A (p.Gly356Asp)
c.*1523G>A (n.*1523G>A)
c.2921G>A (p.Gly974Asp)
c.2903G>A (p.Gly968Asp)
 dbSNP gnomAD v4
22g.50720757G>CCA515260201SHANK3c.2525G>C (p.Gly842Ala)
n.3109G>C
c.1577G>C (p.Gly526Ala)
c.1067G>C (p.Gly356Ala)
c.*1523G>C (n.*1523G>C)
c.2921G>C (p.Gly974Ala)
c.2903G>C (p.Gly968Ala)
22g.50720757G=CA2411007801SHANK3c.2525G= (p.Gly842=)
n.3109G=
c.1577G= (p.Gly526=)
c.1067G= (p.Gly356=)
c.*1523G= (n.*1523G=)
c.2921G= (p.Gly974=)
c.2903G= (p.Gly968=)
22g.50720757G>TCA515260202SHANK3c.2525G>T (p.Gly842Val)
n.3109G>T
c.1577G>T (p.Gly526Val)
c.1067G>T (p.Gly356Val)
c.*1523G>T (n.*1523G>T)
c.2921G>T (p.Gly974Val)
c.2903G>T (p.Gly968Val)
 gnomAD v4
22g.50720757_50720758delinsGTCA2411007802SHANK3c.2525_2526delinsGT (p.Gly842=)
n.3109_3110delinsGT
c.1577_1578delinsGT (p.Gly526=)
c.1067_1068delinsGT (p.Gly356=)
c.*1523_*1524delinsGT (n.*1523_*1524delinsGT)
c.2921_2922delinsGT (p.Gly974=)
c.2903_2904delinsGT (p.Gly968=)
22g.50720758delCA2411007803SHANK3c.2526del (p.Gly844AlafsTer?)
n.3110del
c.1578del (p.Gly528AlafsTer?)
c.1068del (p.Gly358AlafsTer?)
c.*1524del (n.*1524del)
c.2922del (p.Gly976AlafsTer?)
c.2904del (p.Gly970AlafsTer?)
 dbSNP
22g.50720758T>ACA515260205SHANK3c.2526T>A (p.Gly842=)
n.3110T>A
c.1578T>A (p.Gly526=)
c.1068T>A (p.Gly356=)
c.*1524T>A (n.*1524T>A)
c.2922T>A (p.Gly974=)
c.2904T>A (p.Gly968=)
22g.50720758T>CCA515260203SHANK3c.2526T>C (p.Gly842=)
n.3110T>C
c.1578T>C (p.Gly526=)
c.1068T>C (p.Gly356=)
c.*1524T>C (n.*1524T>C)
c.2922T>C (p.Gly974=)
c.2904T>C (p.Gly968=)
 gnomAD v4
22g.50720758T>GCA515260204SHANK3c.2526T>G (p.Gly842=)
n.3110T>G
c.1578T>G (p.Gly526=)
c.1068T>G (p.Gly356=)
c.*1524T>G (n.*1524T>G)
c.2922T>G (p.Gly974=)
c.2904T>G (p.Gly968=)
22g.50720758_50720759delinsTCCA2411007804SHANK3c.2526_2527delinsTC (p.Gly842=)
n.3110_3111delinsTC
c.1578_1579delinsTC (p.Gly526=)
c.1068_1069delinsTC (p.Gly356=)
c.*1524_*1525delinsTC (n.*1524_*1525delinsTC)
c.2922_2923delinsTC (p.Gly974=)
c.2904_2905delinsTC (p.Gly968=)
22g.50720759C>ACA515260206SHANK3c.2527C>A (p.Pro843Thr)
n.3111C>A
c.1579C>A (p.Pro527Thr)
c.1069C>A (p.Pro357Thr)
c.*1525C>A (n.*1525C>A)
c.2923C>A (p.Pro975Thr)
c.2905C>A (p.Pro969Thr)
 gnomAD v4
22g.50720759C>GCA515260207SHANK3c.2527C>G (p.Pro843Ala)
n.3111C>G
c.1579C>G (p.Pro527Ala)
c.1069C>G (p.Pro357Ala)
c.*1525C>G (n.*1525C>G)
c.2923C>G (p.Pro975Ala)
c.2905C>G (p.Pro969Ala)
22g.50720759C>TCA515260208SHANK3c.2527C>T (p.Pro843Ser)
n.3111C>T
c.1579C>T (p.Pro527Ser)
c.1069C>T (p.Pro357Ser)
c.*1525C>T (n.*1525C>T)
c.2923C>T (p.Pro975Ser)
c.2905C>T (p.Pro969Ser)
 ClinVar dbSNP gnomAD v4
22g.50720761delCA10603523SHANK3c.2529del (p.Gly844AlafsTer?)
n.3113del
c.1581del (p.Gly528AlafsTer?)
c.1071del (p.Gly358AlafsTer?)
c.*1527del (n.*1527del)
c.2925del (p.Gly976AlafsTer?)
c.2907del (p.Gly970AlafsTer?)
 ClinVar dbSNP gnomAD v4
22g.50720760C>ACA515260209SHANK3c.2528C>A (p.Pro843His)
n.3112C>A
c.1580C>A (p.Pro527His)
c.1070C>A (p.Pro357His)
c.*1526C>A (n.*1526C>A)
c.2924C>A (p.Pro975His)
c.2906C>A (p.Pro969His)
 gnomAD v4
22g.50720760C=CA2411007805SHANK3c.2528C= (p.Pro843=)
n.3112C=
c.1580C= (p.Pro527=)
c.1070C= (p.Pro357=)
c.*1526C= (n.*1526C=)
c.2924C= (p.Pro975=)
c.2906C= (p.Pro969=)
22g.50720760C>GCA515260210SHANK3c.2528C>G (p.Pro843Arg)
n.3112C>G
c.1580C>G (p.Pro527Arg)
c.1070C>G (p.Pro357Arg)
c.*1526C>G (n.*1526C>G)
c.2924C>G (p.Pro975Arg)
c.2906C>G (p.Pro969Arg)
 gnomAD v4
22g.50720760C>TCA515260211SHANK3c.2528C>T (p.Pro843Leu)
n.3112C>T
c.1580C>T (p.Pro527Leu)
c.1070C>T (p.Pro357Leu)
c.*1526C>T (n.*1526C>T)
c.2924C>T (p.Pro975Leu)
c.2906C>T (p.Pro969Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720761C>ACA515260212SHANK3c.2529C>A (p.Pro843=)
n.3113C>A
c.1581C>A (p.Pro527=)
c.1071C>A (p.Pro357=)
c.*1527C>A (n.*1527C>A)
c.2925C>A (p.Pro975=)
c.2907C>A (p.Pro969=)
 ClinVar dbSNP gnomAD v4
22g.50720761C=CA2411007806SHANK3c.2529C= (p.Pro843=)
n.3113C=
c.1581C= (p.Pro527=)
c.1071C= (p.Pro357=)
c.*1527C= (n.*1527C=)
c.2925C= (p.Pro975=)
c.2907C= (p.Pro969=)
22g.50720761C>GCA515260213SHANK3c.2529C>G (p.Pro843=)
n.3113C>G
c.1581C>G (p.Pro527=)
c.1071C>G (p.Pro357=)
c.*1527C>G (n.*1527C>G)
c.2925C>G (p.Pro975=)
c.2907C>G (p.Pro969=)
 gnomAD v4
22g.50720761C>TCA515260214SHANK3c.2529C>T (p.Pro843=)
n.3113C>T
c.1581C>T (p.Pro527=)
c.1071C>T (p.Pro357=)
c.*1527C>T (n.*1527C>T)
c.2925C>T (p.Pro975=)
c.2907C>T (p.Pro969=)
 dbSNP gnomAD v3 gnomAD v4
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.50720762G>ACA515260215SHANK3c.2530G>A (p.Gly844Ser)
n.3114G>A
c.1582G>A (p.Gly528Ser)
c.1072G>A (p.Gly358Ser)
c.*1528G>A (n.*1528G>A)
c.2926G>A (p.Gly976Ser)
c.2908G>A (p.Gly970Ser)
 gnomAD v4
22g.50720762G>CCA515260216SHANK3c.2530G>C (p.Gly844Arg)
n.3114G>C
c.1582G>C (p.Gly528Arg)
c.1072G>C (p.Gly358Arg)
c.*1528G>C (n.*1528G>C)
c.2926G>C (p.Gly976Arg)
c.2908G>C (p.Gly970Arg)
 gnomAD v4
22g.50720762G>TCA515260217SHANK3c.2530G>T (p.Gly844Cys)
n.3114G>T
c.1582G>T (p.Gly528Cys)
c.1072G>T (p.Gly358Cys)
c.*1528G>T (n.*1528G>T)
c.2926G>T (p.Gly976Cys)
c.2908G>T (p.Gly970Cys)
 gnomAD v4
22g.50720763G>ACA515260218SHANK3c.2531G>A (p.Gly844Asp)
n.3115G>A
c.1583G>A (p.Gly528Asp)
c.1073G>A (p.Gly358Asp)
c.*1529G>A (n.*1529G>A)
c.2927G>A (p.Gly976Asp)
c.2909G>A (p.Gly970Asp)
 gnomAD v4
22g.50720763G>CCA515260220SHANK3c.2531G>C (p.Gly844Ala)
n.3115G>C
c.1583G>C (p.Gly528Ala)
c.1073G>C (p.Gly358Ala)
c.*1529G>C (n.*1529G>C)
c.2927G>C (p.Gly976Ala)
c.2909G>C (p.Gly970Ala)
 gnomAD v4
22g.50720763G>TCA515260219SHANK3c.2531G>T (p.Gly844Val)
n.3115G>T
c.1583G>T (p.Gly528Val)
c.1073G>T (p.Gly358Val)
c.*1529G>T (n.*1529G>T)
c.2927G>T (p.Gly976Val)
c.2909G>T (p.Gly970Val)
 gnomAD v4
22g.50720764delCA2657583401SHANK3c.2532del (p.Gly845AlafsTer?)
n.3116del
c.1584del (p.Gly529AlafsTer?)
c.1074del (p.Gly359AlafsTer?)
c.*1530del (n.*1530del)
c.2928del (p.Gly977AlafsTer?)
c.2910del (p.Gly971AlafsTer?)
 gnomAD v4
22g.50720764C>ACA515260221SHANK3c.2532C>A (p.Gly844=)
n.3116C>A
c.1584C>A (p.Gly528=)
c.1074C>A (p.Gly358=)
c.*1530C>A (n.*1530C>A)
c.2928C>A (p.Gly976=)
c.2910C>A (p.Gly970=)
 gnomAD v4
22g.50720764C=CA2411007807SHANK3c.2532C= (p.Gly844=)
n.3116C=
c.1584C= (p.Gly528=)
c.1074C= (p.Gly358=)
c.*1530C= (n.*1530C=)
c.2928C= (p.Gly976=)
c.2910C= (p.Gly970=)
22g.50720764C>GCA515260222SHANK3c.2532C>G (p.Gly844=)
n.3116C>G
c.1584C>G (p.Gly528=)
c.1074C>G (p.Gly358=)
c.*1530C>G (n.*1530C>G)
c.2928C>G (p.Gly976=)
c.2910C>G (p.Gly970=)
 gnomAD v4
22g.50720764C>TCA515260223SHANK3c.2532C>T (p.Gly844=)
n.3116C>T
c.1584C>T (p.Gly528=)
c.1074C>T (p.Gly358=)
c.*1530C>T (n.*1530C>T)
c.2928C>T (p.Gly976=)
c.2910C>T (p.Gly970=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720765G>ACA515260224SHANK3c.2533G>A (p.Gly845Ser)
n.3117G>A
c.1585G>A (p.Gly529Ser)
c.1075G>A (p.Gly359Ser)
c.*1531G>A (n.*1531G>A)
c.2929G>A (p.Gly977Ser)
c.2911G>A (p.Gly971Ser)
 dbSNP gnomAD v2 gnomAD v4
22g.50720765G>CCA515260225SHANK3c.2533G>C (p.Gly845Arg)
n.3117G>C
c.1585G>C (p.Gly529Arg)
c.1075G>C (p.Gly359Arg)
c.*1531G>C (n.*1531G>C)
c.2929G>C (p.Gly977Arg)
c.2911G>C (p.Gly971Arg)
 gnomAD v4
22g.50720765G=CA2411007808SHANK3c.2533G= (p.Gly845=)
n.3117G=
c.1585G= (p.Gly529=)
c.1075G= (p.Gly359=)
c.*1531G= (n.*1531G=)
c.2929G= (p.Gly977=)
c.2911G= (p.Gly971=)
22g.50720765G>TCA515260226SHANK3c.2533G>T (p.Gly845Cys)
n.3117G>T
c.1585G>T (p.Gly529Cys)
c.1075G>T (p.Gly359Cys)
c.*1531G>T (n.*1531G>T)
c.2929G>T (p.Gly977Cys)
c.2911G>T (p.Gly971Cys)
 gnomAD v4
22g.50720766dupCA2411007809SHANK3c.2534dup (p.Gly846ArgfsTer?)
n.3118dup
c.1586dup (p.Gly530ArgfsTer?)
c.1076dup (p.Gly360ArgfsTer?)
c.*1532dup (n.*1532dup)
c.2930dup (p.Gly978ArgfsTer?)
c.2912dup (p.Gly972ArgfsTer?)
 dbSNP
22g.50720766G>ACA515260227SHANK3c.2534G>A (p.Gly845Asp)
n.3118G>A
c.1586G>A (p.Gly529Asp)
c.1076G>A (p.Gly359Asp)
c.*1532G>A (n.*1532G>A)
c.2930G>A (p.Gly977Asp)
c.2912G>A (p.Gly971Asp)
 gnomAD v4
22g.50720766G>CCA515260228SHANK3c.2534G>C (p.Gly845Ala)
n.3118G>C
c.1586G>C (p.Gly529Ala)
c.1076G>C (p.Gly359Ala)
c.*1532G>C (n.*1532G>C)
c.2930G>C (p.Gly977Ala)
c.2912G>C (p.Gly971Ala)
22g.50720766G>TCA515260229SHANK3c.2534G>T (p.Gly845Val)
n.3118G>T
c.1586G>T (p.Gly529Val)
c.1076G>T (p.Gly359Val)
c.*1532G>T (n.*1532G>T)
c.2930G>T (p.Gly977Val)
c.2912G>T (p.Gly971Val)
 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

Number of alleles fetched