Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50721170G>A	CA515261351	SHANK3	c.2938G>A (p.Ala980Thr) n.3522G>A c.1990G>A (p.Ala664Thr) c.1480G>A (p.Ala494Thr) c.1936G>A (n.1936G>A) c.3334G>A (p.Ala1112Thr) c.3316G>A (p.Ala1106Thr)	gnomAD v4
22	g.50721170G>C	CA515261352	SHANK3	c.2938G>C (p.Ala980Pro) n.3522G>C c.1990G>C (p.Ala664Pro) c.1480G>C (p.Ala494Pro) c.1936G>C (n.1936G>C) c.3334G>C (p.Ala1112Pro) c.3316G>C (p.Ala1106Pro)
22	g.50721170G>T	CA515261353	SHANK3	c.2938G>T (p.Ala980Ser) n.3522G>T c.1990G>T (p.Ala664Ser) c.1480G>T (p.Ala494Ser) c.1936G>T (n.1936G>T) c.3334G>T (p.Ala1112Ser) c.3316G>T (p.Ala1106Ser)	gnomAD v4
22	g.50721171C>A	CA515261354	SHANK3	c.2939C>A (p.Ala980Asp) n.3523C>A c.1991C>A (p.Ala664Asp) c.1481C>A (p.Ala494Asp) c.1937C>A (n.1937C>A) c.3335C>A (p.Ala1112Asp) c.3317C>A (p.Ala1106Asp)	gnomAD v4
22	g.50721171C=	CA2411008069	SHANK3	c.2939C= (p.Ala980=) n.3523C= c.1991C= (p.Ala664=) c.1481C= (p.Ala494=) c.1937C= (n.1937C=) c.3335C= (p.Ala1112=) c.3317C= (p.Ala1106=)
22	g.50721171C>G	CA515261355	SHANK3	c.2939C>G (p.Ala980Gly) n.3523C>G c.1991C>G (p.Ala664Gly) c.1481C>G (p.Ala494Gly) c.1937C>G (n.1937C>G) c.3335C>G (p.Ala1112Gly) c.3317C>G (p.Ala1106Gly)
22	g.50721171C>T	CA515261356	SHANK3	c.2939C>T (p.Ala980Val) n.3523C>T c.1991C>T (p.Ala664Val) c.1481C>T (p.Ala494Val) c.1937C>T (n.1937C>T) c.3335C>T (p.Ala1112Val) c.3317C>T (p.Ala1106Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50721172T>A	CA515261359	SHANK3	c.2940T>A (p.Ala980=) n.3524T>A c.1992T>A (p.Ala664=) c.1482T>A (p.Ala494=) c.1938T>A (n.1938T>A) c.3336T>A (p.Ala1112=) c.3318T>A (p.Ala1106=)
22	g.50721172T>C	CA515261357	SHANK3	c.2940T>C (p.Ala980=) n.3524T>C c.1992T>C (p.Ala664=) c.1482T>C (p.Ala494=) c.1938T>C (n.1938T>C) c.3336T>C (p.Ala1112=) c.3318T>C (p.Ala1106=)
22	g.50721172T>G	CA515261358	SHANK3	c.2940T>G (p.Ala980=) n.3524T>G c.1992T>G (p.Ala664=) c.1482T>G (p.Ala494=) c.1938T>G (n.1938T>G) c.3336T>G (p.Ala1112=) c.3318T>G (p.Ala1106=)
22	g.50721173G>A	CA515261360	SHANK3	c.2941G>A (p.Ala981Thr) n.3525G>A c.1993G>A (p.Ala665Thr) c.1483G>A (p.Ala495Thr) c.1939G>A (n.1939G>A) c.3337G>A (p.Ala1113Thr) c.3319G>A (p.Ala1107Thr)	gnomAD v4
22	g.50721173G>C	CA515261361	SHANK3	c.2941G>C (p.Ala981Pro) n.3525G>C c.1993G>C (p.Ala665Pro) c.1483G>C (p.Ala495Pro) c.1939G>C (n.1939G>C) c.3337G>C (p.Ala1113Pro) c.3319G>C (p.Ala1107Pro)
22	g.50721173G=	CA2411008070	SHANK3	c.2941G= (p.Ala981=) n.3525G= c.1993G= (p.Ala665=) c.1483G= (p.Ala495=) c.1939G= (n.1939G=) c.3337G= (p.Ala1113=) c.3319G= (p.Ala1107=)
22	g.50721173G>T	CA515261362	SHANK3	c.2941G>T (p.Ala981Ser) n.3525G>T c.1993G>T (p.Ala665Ser) c.1483G>T (p.Ala495Ser) c.1939G>T (n.1939G>T) c.3337G>T (p.Ala1113Ser) c.3319G>T (p.Ala1107Ser)	dbSNP gnomAD v4
22	g.50721174C>A	CA515261363	SHANK3	c.2942C>A (p.Ala981Asp) n.3526C>A c.1994C>A (p.Ala665Asp) c.1484C>A (p.Ala495Asp) c.1940C>A (n.1940C>A) c.3338C>A (p.Ala1113Asp) c.3320C>A (p.Ala1107Asp)	gnomAD v4
22	g.50721174C=	CA2411008071	SHANK3	c.2942C= (p.Ala981=) n.3526C= c.1994C= (p.Ala665=) c.1484C= (p.Ala495=) c.1940C= (n.1940C=) c.3338C= (p.Ala1113=) c.3320C= (p.Ala1107=)
22	g.50721174C>G	CA515261364	SHANK3	c.2942C>G (p.Ala981Gly) n.3526C>G c.1994C>G (p.Ala665Gly) c.1484C>G (p.Ala495Gly) c.1940C>G (n.1940C>G) c.3338C>G (p.Ala1113Gly) c.3320C>G (p.Ala1107Gly)
22	g.50721174C>T	CA10326005	SHANK3	c.2942C>T (p.Ala981Val) n.3526C>T c.1994C>T (p.Ala665Val) c.1484C>T (p.Ala495Val) c.1940C>T (n.1940C>T) c.3338C>T (p.Ala1113Val) c.3320C>T (p.Ala1107Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721175C>A	CA515261365	SHANK3	c.2943C>A (p.Ala981=) n.3527C>A c.1995C>A (p.Ala665=) c.1485C>A (p.Ala495=) c.1941C>A (n.1941C>A) c.3339C>A (p.Ala1113=) c.3321C>A (p.Ala1107=)
22	g.50721175C=	CA2411008072	SHANK3	c.2943C= (p.Ala981=) n.3527C= c.1995C= (p.Ala665=) c.1485C= (p.Ala495=) c.1941C= (n.1941C=) c.3339C= (p.Ala1113=) c.3321C= (p.Ala1107=)
22	g.50721175C>G	CA10326006	SHANK3	c.2943C>G (p.Ala981=) n.3527C>G c.1995C>G (p.Ala665=) c.1485C>G (p.Ala495=) c.1941C>G (n.1941C>G) c.3339C>G (p.Ala1113=) c.3321C>G (p.Ala1107=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721175C>T	CA515261366	SHANK3	c.2943C>T (p.Ala981=) n.3527C>T c.1995C>T (p.Ala665=) c.1485C>T (p.Ala495=) c.1941C>T (n.1941C>T) c.3339C>T (p.Ala1113=) c.3321C>T (p.Ala1107=)	gnomAD v4 COSMIC COSMIC
22	g.50721176C>A	CA325578719	SHANK3	c.2944C>A (p.Arg982=) n.3528C>A c.1996C>A (p.Arg666=) c.1486C>A (p.Arg496=) c.1942C>A (n.1942C>A) c.3340C>A (p.Arg1114=) c.3322C>A (p.Arg1108=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721176C=	CA2411008073	SHANK3	c.2944C= (p.Arg982=) n.3528C= c.1996C= (p.Arg666=) c.1486C= (p.Arg496=) c.1942C= (n.1942C=) c.3340C= (p.Arg1114=) c.3322C= (p.Arg1108=)
22	g.50721176C>G	CA515261367	SHANK3	c.2944C>G (p.Arg982Gly) n.3528C>G c.1996C>G (p.Arg666Gly) c.1486C>G (p.Arg496Gly) c.1942C>G (n.1942C>G) c.3340C>G (p.Arg1114Gly) c.3322C>G (p.Arg1108Gly)
22	g.50721176C>T	CA515261368	SHANK3	c.2944C>T (p.Arg982Ter) n.3528C>T c.1996C>T (p.Arg666Ter) c.1486C>T (p.Arg496Ter) c.1942C>T (n.1942C>T) c.3340C>T (p.Arg1114Ter) c.3322C>T (p.Arg1108Ter)	ClinVar gnomAD v4
22	g.50721177G>A	CA515261371	SHANK3	c.2945G>A (p.Arg982Gln) n.3529G>A c.1997G>A (p.Arg666Gln) c.1487G>A (p.Arg496Gln) c.1943G>A (n.1943G>A) c.3341G>A (p.Arg1114Gln) c.3323G>A (p.Arg1108Gln)	gnomAD v4
22	g.50721177G>C	CA515261370	SHANK3	c.2945G>C (p.Arg982Pro) n.3529G>C c.1997G>C (p.Arg666Pro) c.1487G>C (p.Arg496Pro) c.1943G>C (n.1943G>C) c.3341G>C (p.Arg1114Pro) c.3323G>C (p.Arg1108Pro)
22	g.50721177G=	CA2411008074	SHANK3	c.2945G= (p.Arg982=) n.3529G= c.1997G= (p.Arg666=) c.1487G= (p.Arg496=) c.1943G= (n.1943G=) c.3341G= (p.Arg1114=) c.3323G= (p.Arg1108=)
22	g.50721177G>T	CA515261369	SHANK3	c.2945G>T (p.Arg982Leu) n.3529G>T c.1997G>T (p.Arg666Leu) c.1487G>T (p.Arg496Leu) c.1943G>T (n.1943G>T) c.3341G>T (p.Arg1114Leu) c.3323G>T (p.Arg1108Leu)	gnomAD v4
22	g.50721178A=	CA2411008076	SHANK3	c.2946A= (p.Arg982=) n.3530A= c.1998A= (p.Arg666=) c.1488A= (p.Arg496=) c.1944A= (n.1944A=) c.3342A= (p.Arg1114=) c.3324A= (p.Arg1108=)
22	g.50721178A>C	CA515261373	SHANK3	c.2946A>C (p.Arg982=) n.3530A>C c.1998A>C (p.Arg666=) c.1488A>C (p.Arg496=) c.1944A>C (n.1944A>C) c.3342A>C (p.Arg1114=) c.3324A>C (p.Arg1108=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721178A>G	CA515261372	SHANK3	c.2946A>G (p.Arg982=) n.3530A>G c.1998A>G (p.Arg666=) c.1488A>G (p.Arg496=) c.1944A>G (n.1944A>G) c.3342A>G (p.Arg1114=) c.3324A>G (p.Arg1108=)
22	g.50721178A>T	CA515261374	SHANK3	c.2946A>T (p.Arg982=) n.3530A>T c.1998A>T (p.Arg666=) c.1488A>T (p.Arg496=) c.1944A>T (n.1944A>T) c.3342A>T (p.Arg1114=) c.3324A>T (p.Arg1108=)
22	g.50721178_50721198dup	CA2411008075	SHANK3	c.2946_2966dup (p.Gln989_Ala990insGluArgAlaLeuAlaSerGln) n.3530_3550dup c.1998_2018dup (p.Gln673_Ala674insGluArgAlaLeuAlaSerGln) c.1488_1508dup (p.Gln503_Ala504insGluArgAlaLeuAlaSerGln) c.1944_1964dup (n.1944_1964dup) c.3342_3362dup (p.Gln1121_Ala1122insGluArgAlaLeuAlaSerGln) c.3324_3344dup (p.Gln1115_Ala1116insGluArgAlaLeuAlaSerGln)	dbSNP gnomAD v4
22	g.50721179G>A	CA515261375	SHANK3	c.2947G>A (p.Glu983Lys) n.3531G>A c.1999G>A (p.Glu667Lys) c.1489G>A (p.Glu497Lys) c.1945G>A (n.1945G>A) c.3343G>A (p.Glu1115Lys) c.3325G>A (p.Glu1109Lys)
22	g.50721179G>C	CA515261376	SHANK3	c.2947G>C (p.Glu983Gln) n.3531G>C c.1999G>C (p.Glu667Gln) c.1489G>C (p.Glu497Gln) c.1945G>C (n.1945G>C) c.3343G>C (p.Glu1115Gln) c.3325G>C (p.Glu1109Gln)	COSMIC COSMIC
22	g.50721179G>T	CA515261377	SHANK3	c.2947G>T (p.Glu983Ter) n.3531G>T c.1999G>T (p.Glu667Ter) c.1489G>T (p.Glu497Ter) c.1945G>T (n.1945G>T) c.3343G>T (p.Glu1115Ter) c.3325G>T (p.Glu1109Ter)	gnomAD v4
22	g.50721180A>C	CA515261378	SHANK3	c.2948A>C (p.Glu983Ala) n.3532A>C c.2000A>C (p.Glu667Ala) c.1490A>C (p.Glu497Ala) c.1946A>C (n.1946A>C) c.3344A>C (p.Glu1115Ala) c.3326A>C (p.Glu1109Ala)
22	g.50721180A>G	CA515261379	SHANK3	c.2948A>G (p.Glu983Gly) n.3532A>G c.2000A>G (p.Glu667Gly) c.1490A>G (p.Glu497Gly) c.1946A>G (n.1946A>G) c.3344A>G (p.Glu1115Gly) c.3326A>G (p.Glu1109Gly)
22	g.50721180A>T	CA515261380	SHANK3	c.2948A>T (p.Glu983Val) n.3532A>T c.2000A>T (p.Glu667Val) c.1490A>T (p.Glu497Val) c.1946A>T (n.1946A>T) c.3344A>T (p.Glu1115Val) c.3326A>T (p.Glu1109Val)
22	g.50721181G>A	CA10326007	SHANK3	c.2949G>A (p.Glu983=) n.3533G>A c.2001G>A (p.Glu667=) c.1491G>A (p.Glu497=) c.1947G>A (n.1947G>A) c.3345G>A (p.Glu1115=) c.3327G>A (p.Glu1109=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721181G>C	CA515261381	SHANK3	c.2949G>C (p.Glu983Asp) n.3533G>C c.2001G>C (p.Glu667Asp) c.1491G>C (p.Glu497Asp) c.1947G>C (n.1947G>C) c.3345G>C (p.Glu1115Asp) c.3327G>C (p.Glu1109Asp)
22	g.50721181G=	CA2411008077	SHANK3	c.2949G= (p.Glu983=) n.3533G= c.2001G= (p.Glu667=) c.1491G= (p.Glu497=) c.1947G= (n.1947G=) c.3345G= (p.Glu1115=) c.3327G= (p.Glu1109=)
22	g.50721181G>T	CA515261382	SHANK3	c.2949G>T (p.Glu983Asp) n.3533G>T c.2001G>T (p.Glu667Asp) c.1491G>T (p.Glu497Asp) c.1947G>T (n.1947G>T) c.3345G>T (p.Glu1115Asp) c.3327G>T (p.Glu1109Asp)
22	g.50721182C>A	CA515261383	SHANK3	c.2950C>A (p.Arg984=) n.3534C>A c.2002C>A (p.Arg668=) c.1492C>A (p.Arg498=) c.1948C>A (n.1948C>A) c.3346C>A (p.Arg1116=) c.3328C>A (p.Arg1110=)	gnomAD v4
22	g.50721182C=	CA2411008078	SHANK3	c.2950C= (p.Arg984=) n.3534C= c.2002C= (p.Arg668=) c.1492C= (p.Arg498=) c.1948C= (n.1948C=) c.3346C= (p.Arg1116=) c.3328C= (p.Arg1110=)
22	g.50721182C>G	CA515261384	SHANK3	c.2950C>G (p.Arg984Gly) n.3534C>G c.2002C>G (p.Arg668Gly) c.1492C>G (p.Arg498Gly) c.1948C>G (n.1948C>G) c.3346C>G (p.Arg1116Gly) c.3328C>G (p.Arg1110Gly)	gnomAD v4
22	g.50721182C>T	CA129332	SHANK3	c.2950C>T (p.Arg984Ter) n.3534C>T c.2002C>T (p.Arg668Ter) c.1492C>T (p.Arg498Ter) c.1948C>T (n.1948C>T) c.3346C>T (p.Arg1116Ter) c.3328C>T (p.Arg1110Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
22	g.50721183G>A	CA515261386	SHANK3	c.2951G>A (p.Arg984Gln) n.3535G>A c.2003G>A (p.Arg668Gln) c.1493G>A (p.Arg498Gln) c.1949G>A (n.1949G>A) c.3347G>A (p.Arg1116Gln) c.3329G>A (p.Arg1110Gln)	gnomAD v4
22	g.50721183G>C	CA515261385	SHANK3	c.2951G>C (p.Arg984Pro) n.3535G>C c.2003G>C (p.Arg668Pro) c.1493G>C (p.Arg498Pro) c.1949G>C (n.1949G>C) c.3347G>C (p.Arg1116Pro) c.3329G>C (p.Arg1110Pro)
22	g.50721183G=	CA2411008079	SHANK3	c.2951G= (p.Arg984=) n.3535G= c.2003G= (p.Arg668=) c.1493G= (p.Arg498=) c.1949G= (n.1949G=) c.3347G= (p.Arg1116=) c.3329G= (p.Arg1110=)
22	g.50721183G>T	CA10326008	SHANK3	c.2951G>T (p.Arg984Leu) n.3535G>T c.2003G>T (p.Arg668Leu) c.1493G>T (p.Arg498Leu) c.1949G>T (n.1949G>T) c.3347G>T (p.Arg1116Leu) c.3329G>T (p.Arg1110Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721184A>C	CA515261387	SHANK3	c.2952A>C (p.Arg984=) n.3536A>C c.2004A>C (p.Arg668=) c.1494A>C (p.Arg498=) c.1950A>C (n.1950A>C) c.3348A>C (p.Arg1116=) c.3330A>C (p.Arg1110=)	gnomAD v4
22	g.50721184A>G	CA515261388	SHANK3	c.2952A>G (p.Arg984=) n.3536A>G c.2004A>G (p.Arg668=) c.1494A>G (p.Arg498=) c.1950A>G (n.1950A>G) c.3348A>G (p.Arg1116=) c.3330A>G (p.Arg1110=)
22	g.50721184A>T	CA515261389	SHANK3	c.2952A>T (p.Arg984=) n.3536A>T c.2004A>T (p.Arg668=) c.1494A>T (p.Arg498=) c.1950A>T (n.1950A>T) c.3348A>T (p.Arg1116=) c.3330A>T (p.Arg1110=)
22	g.50721185G>A	CA515261390	SHANK3	c.2953G>A (p.Ala985Thr) n.3537G>A c.2005G>A (p.Ala669Thr) c.1495G>A (p.Ala499Thr) c.1951G>A (n.1951G>A) c.3349G>A (p.Ala1117Thr) c.3331G>A (p.Ala1111Thr)	gnomAD v4
22	g.50721185G>C	CA515261391	SHANK3	c.2953G>C (p.Ala985Pro) n.3537G>C c.2005G>C (p.Ala669Pro) c.1495G>C (p.Ala499Pro) c.1951G>C (n.1951G>C) c.3349G>C (p.Ala1117Pro) c.3331G>C (p.Ala1111Pro)	dbSNP gnomAD v2 gnomAD v4
22	g.50721185G=	CA2411008080	SHANK3	c.2953G= (p.Ala985=) n.3537G= c.2005G= (p.Ala669=) c.1495G= (p.Ala499=) c.1951G= (n.1951G=) c.3349G= (p.Ala1117=) c.3331G= (p.Ala1111=)
22	g.50721185G>T	CA515261392	SHANK3	c.2953G>T (p.Ala985Ser) n.3537G>T c.2005G>T (p.Ala669Ser) c.1495G>T (p.Ala499Ser) c.1951G>T (n.1951G>T) c.3349G>T (p.Ala1117Ser) c.3331G>T (p.Ala1111Ser)	dbSNP gnomAD v3 gnomAD v4
22	g.50721186C>A	CA515261393	SHANK3	c.2954C>A (p.Ala985Asp) n.3538C>A c.2006C>A (p.Ala669Asp) c.1496C>A (p.Ala499Asp) c.1952C>A (n.1952C>A) c.3350C>A (p.Ala1117Asp) c.3332C>A (p.Ala1111Asp)	gnomAD v4
22	g.50721186C>G	CA515261394	SHANK3	c.2954C>G (p.Ala985Gly) n.3538C>G c.2006C>G (p.Ala669Gly) c.1496C>G (p.Ala499Gly) c.1952C>G (n.1952C>G) c.3350C>G (p.Ala1117Gly) c.3332C>G (p.Ala1111Gly)
22	g.50721186C>T	CA515261395	SHANK3	c.2954C>T (p.Ala985Val) n.3538C>T c.2006C>T (p.Ala669Val) c.1496C>T (p.Ala499Val) c.1952C>T (n.1952C>T) c.3350C>T (p.Ala1117Val) c.3332C>T (p.Ala1111Val)	gnomAD v4
22	g.50721187T>A	CA515261396	SHANK3	c.2955T>A (p.Ala985=) n.3539T>A c.2007T>A (p.Ala669=) c.1497T>A (p.Ala499=) c.1953T>A (n.1953T>A) c.3351T>A (p.Ala1117=) c.3333T>A (p.Ala1111=)
22	g.50721187T>C	CA515261397	SHANK3	c.2955T>C (p.Ala985=) n.3539T>C c.2007T>C (p.Ala669=) c.1497T>C (p.Ala499=) c.1953T>C (n.1953T>C) c.3351T>C (p.Ala1117=) c.3333T>C (p.Ala1111=)
22	g.50721187T>G	CA515261398	SHANK3	c.2955T>G (p.Ala985=) n.3539T>G c.2007T>G (p.Ala669=) c.1497T>G (p.Ala499=) c.1953T>G (n.1953T>G) c.3351T>G (p.Ala1117=) c.3333T>G (p.Ala1111=)
22	g.50721188C>A	CA515261401	SHANK3	c.2956C>A (p.Leu986Met) n.3540C>A c.2008C>A (p.Leu670Met) c.1498C>A (p.Leu500Met) c.1954C>A (n.1954C>A) c.3352C>A (p.Leu1118Met) c.3334C>A (p.Leu1112Met)
22	g.50721188C=	CA2411008081	SHANK3	c.2956C= (p.Leu986=) n.3540C= c.2008C= (p.Leu670=) c.1498C= (p.Leu500=) c.1954C= (n.1954C=) c.3352C= (p.Leu1118=) c.3334C= (p.Leu1112=)
22	g.50721188C>G	CA515261400	SHANK3	c.2956C>G (p.Leu986Val) n.3540C>G c.2008C>G (p.Leu670Val) c.1498C>G (p.Leu500Val) c.1954C>G (n.1954C>G) c.3352C>G (p.Leu1118Val) c.3334C>G (p.Leu1112Val)
22	g.50721188C>T	CA515261399	SHANK3	c.2956C>T (p.Leu986=) n.3540C>T c.2008C>T (p.Leu670=) c.1498C>T (p.Leu500=) c.1954C>T (n.1954C>T) c.3352C>T (p.Leu1118=) c.3334C>T (p.Leu1112=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721189T>A	CA515261404	SHANK3	c.2957T>A (p.Leu986Gln) n.3541T>A c.2009T>A (p.Leu670Gln) c.1499T>A (p.Leu500Gln) c.1955T>A (n.1955T>A) c.3353T>A (p.Leu1118Gln) c.3335T>A (p.Leu1112Gln)
22	g.50721189T>C	CA515261402	SHANK3	c.2957T>C (p.Leu986Pro) n.3541T>C c.2009T>C (p.Leu670Pro) c.1499T>C (p.Leu500Pro) c.1955T>C (n.1955T>C) c.3353T>C (p.Leu1118Pro) c.3335T>C (p.Leu1112Pro)
22	g.50721189T>G	CA515261403	SHANK3	c.2957T>G (p.Leu986Arg) n.3541T>G c.2009T>G (p.Leu670Arg) c.1499T>G (p.Leu500Arg) c.1955T>G (n.1955T>G) c.3353T>G (p.Leu1118Arg) c.3335T>G (p.Leu1112Arg)
22	g.50721190G>A	CA515261405	SHANK3	c.2958G>A (p.Leu986=) n.3542G>A c.2010G>A (p.Leu670=) c.1500G>A (p.Leu500=) c.1956G>A (n.1956G>A) c.3354G>A (p.Leu1118=) c.3336G>A (p.Leu1112=)
22	g.50721190G>C	CA515261406	SHANK3	c.2958G>C (p.Leu986=) n.3542G>C c.2010G>C (p.Leu670=) c.1500G>C (p.Leu500=) c.1956G>C (n.1956G>C) c.3354G>C (p.Leu1118=) c.3336G>C (p.Leu1112=)
22	g.50721190G>T	CA515261407	SHANK3	c.2958G>T (p.Leu986=) n.3542G>T c.2010G>T (p.Leu670=) c.1500G>T (p.Leu500=) c.1956G>T (n.1956G>T) c.3354G>T (p.Leu1118=) c.3336G>T (p.Leu1112=)	gnomAD v4
22	g.50721191G>A	CA515261410	SHANK3	c.2959G>A (p.Ala987Thr) n.3543G>A c.2011G>A (p.Ala671Thr) c.1501G>A (p.Ala501Thr) c.1957G>A (n.1957G>A) c.3355G>A (p.Ala1119Thr) c.3337G>A (p.Ala1113Thr)	gnomAD v4
22	g.50721191G>C	CA515261409	SHANK3	c.2959G>C (p.Ala987Pro) n.3543G>C c.2011G>C (p.Ala671Pro) c.1501G>C (p.Ala501Pro) c.1957G>C (n.1957G>C) c.3355G>C (p.Ala1119Pro) c.3337G>C (p.Ala1113Pro)
22	g.50721191G>T	CA515261408	SHANK3	c.2959G>T (p.Ala987Ser) n.3543G>T c.2011G>T (p.Ala671Ser) c.1501G>T (p.Ala501Ser) c.1957G>T (n.1957G>T) c.3355G>T (p.Ala1119Ser) c.3337G>T (p.Ala1113Ser)	gnomAD v4
22	g.50721192C>A	CA515261411	SHANK3	c.2960C>A (p.Ala987Asp) n.3544C>A c.2012C>A (p.Ala671Asp) c.1502C>A (p.Ala501Asp) c.1958C>A (n.1958C>A) c.3356C>A (p.Ala1119Asp) c.3338C>A (p.Ala1113Asp)	gnomAD v4
22	g.50721192C=	CA2411008082	SHANK3	c.2960C= (p.Ala987=) n.3544C= c.2012C= (p.Ala671=) c.1502C= (p.Ala501=) c.1958C= (n.1958C=) c.3356C= (p.Ala1119=) c.3338C= (p.Ala1113=)
22	g.50721192C>G	CA515261412	SHANK3	c.2960C>G (p.Ala987Gly) n.3544C>G c.2012C>G (p.Ala671Gly) c.1502C>G (p.Ala501Gly) c.1958C>G (n.1958C>G) c.3356C>G (p.Ala1119Gly) c.3338C>G (p.Ala1113Gly)
22	g.50721192C>T	CA10326009	SHANK3	c.2960C>T (p.Ala987Val) n.3544C>T c.2012C>T (p.Ala671Val) c.1502C>T (p.Ala501Val) c.1958C>T (n.1958C>T) c.3356C>T (p.Ala1119Val) c.3338C>T (p.Ala1113Val)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721198_50721209dup	CA2657580564	SHANK3	c.2966_2977dup (p.Ser992_Arg993insGlnAlaProSer) n.3550_3561dup c.2018_2029dup (p.Ser676_Arg677insGlnAlaProSer) c.1508_1519dup (p.Ser506_Arg507insGlnAlaProSer) c.1964_1975dup (n.1964_1975dup) c.3362_3373dup (p.Ser1124_Arg1125insGlnAlaProSer) c.3344_3355dup (p.Ser1118_Arg1119insGlnAlaProSer)	gnomAD v4
22	g.50721193C>A	CA515261413	SHANK3	c.2961C>A (p.Ala987=) n.3545C>A c.2013C>A (p.Ala671=) c.1503C>A (p.Ala501=) c.1959C>A (n.1959C>A) c.3357C>A (p.Ala1119=) c.3339C>A (p.Ala1113=)	gnomAD v4
22	g.50721193C=	CA2411008083	SHANK3	c.2961C= (p.Ala987=) n.3545C= c.2013C= (p.Ala671=) c.1503C= (p.Ala501=) c.1959C= (n.1959C=) c.3357C= (p.Ala1119=) c.3339C= (p.Ala1113=)
22	g.50721193C>G	CA515261414	SHANK3	c.2961C>G (p.Ala987=) n.3545C>G c.2013C>G (p.Ala671=) c.1503C>G (p.Ala501=) c.1959C>G (n.1959C>G) c.3357C>G (p.Ala1119=) c.3339C>G (p.Ala1113=)	dbSNP
22	g.50721193C>T	CA515261415	SHANK3	c.2961C>T (p.Ala987=) n.3545C>T c.2013C>T (p.Ala671=) c.1503C>T (p.Ala501=) c.1959C>T (n.1959C>T) c.3357C>T (p.Ala1119=) c.3339C>T (p.Ala1113=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721194T>A	CA515261416	SHANK3	c.2962T>A (p.Ser988Thr) n.3546T>A c.2014T>A (p.Ser672Thr) c.1504T>A (p.Ser502Thr) c.1960T>A (n.1960T>A) c.3358T>A (p.Ser1120Thr) c.3340T>A (p.Ser1114Thr)	gnomAD v4
22	g.50721194T>C	CA515261418	SHANK3	c.2962T>C (p.Ser988Pro) n.3546T>C c.2014T>C (p.Ser672Pro) c.1504T>C (p.Ser502Pro) c.1960T>C (n.1960T>C) c.3358T>C (p.Ser1120Pro) c.3340T>C (p.Ser1114Pro)
22	g.50721194T>G	CA515261417	SHANK3	c.2962T>G (p.Ser988Ala) n.3546T>G c.2014T>G (p.Ser672Ala) c.1504T>G (p.Ser502Ala) c.1960T>G (n.1960T>G) c.3358T>G (p.Ser1120Ala) c.3340T>G (p.Ser1114Ala)
22	g.50721195C>A	CA515261419	SHANK3	c.2963C>A (p.Ser988Tyr) n.3547C>A c.2015C>A (p.Ser672Tyr) c.1505C>A (p.Ser502Tyr) c.1961C>A (n.1961C>A) c.3359C>A (p.Ser1120Tyr) c.3341C>A (p.Ser1114Tyr)	gnomAD v4
22	g.50721195C=	CA2411008084	SHANK3	c.2963C= (p.Ser988=) n.3547C= c.2015C= (p.Ser672=) c.1505C= (p.Ser502=) c.1961C= (n.1961C=) c.3359C= (p.Ser1120=) c.3341C= (p.Ser1114=)
22	g.50721195C>G	CA515261420	SHANK3	c.2963C>G (p.Ser988Cys) n.3547C>G c.2015C>G (p.Ser672Cys) c.1505C>G (p.Ser502Cys) c.1961C>G (n.1961C>G) c.3359C>G (p.Ser1120Cys) c.3341C>G (p.Ser1114Cys)	gnomAD v4
22	g.50721195C>T	CA325578736	SHANK3	c.2963C>T (p.Ser988Phe) n.3547C>T c.2015C>T (p.Ser672Phe) c.1505C>T (p.Ser502Phe) c.1961C>T (n.1961C>T) c.3359C>T (p.Ser1120Phe) c.3341C>T (p.Ser1114Phe)	dbSNP gnomAD v3 gnomAD v4
22	g.50721196C>A	CA515261421	SHANK3	c.2964C>A (p.Ser988=) n.3548C>A c.2016C>A (p.Ser672=) c.1506C>A (p.Ser502=) c.1962C>A (n.1962C>A) c.3360C>A (p.Ser1120=) c.3342C>A (p.Ser1114=)	gnomAD v4
22	g.50721196C=	CA2411008085	SHANK3	c.2964C= (p.Ser988=) n.3548C= c.2016C= (p.Ser672=) c.1506C= (p.Ser502=) c.1962C= (n.1962C=) c.3360C= (p.Ser1120=) c.3342C= (p.Ser1114=)
22	g.50721196C>G	CA515261422	SHANK3	c.2964C>G (p.Ser988=) n.3548C>G c.2016C>G (p.Ser672=) c.1506C>G (p.Ser502=) c.1962C>G (n.1962C>G) c.3360C>G (p.Ser1120=) c.3342C>G (p.Ser1114=)
22	g.50721196C>T	CA180434	SHANK3	c.2964C>T (p.Ser988=) n.3548C>T c.2016C>T (p.Ser672=) c.1506C>T (p.Ser502=) c.1962C>T (n.1962C>T) c.3360C>T (p.Ser1120=) c.3342C>T (p.Ser1114=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721197C>A	CA515261424	SHANK3	c.2965C>A (p.Gln989Lys) n.3549C>A c.2017C>A (p.Gln673Lys) c.1507C>A (p.Gln503Lys) c.1963C>A (n.1963C>A) c.3361C>A (p.Gln1121Lys) c.3343C>A (p.Gln1115Lys)	gnomAD v4
22	g.50721197C>G	CA515261425	SHANK3	c.2965C>G (p.Gln989Glu) n.3549C>G c.2017C>G (p.Gln673Glu) c.1507C>G (p.Gln503Glu) c.1963C>G (n.1963C>G) c.3361C>G (p.Gln1121Glu) c.3343C>G (p.Gln1115Glu)
22	g.50721197C>T	CA515261426	SHANK3	c.2965C>T (p.Gln989Ter) n.3549C>T c.2017C>T (p.Gln673Ter) c.1507C>T (p.Gln503Ter) c.1963C>T (n.1963C>T) c.3361C>T (p.Gln1121Ter) c.3343C>T (p.Gln1115Ter)	gnomAD v4
22	g.50721198A>C	CA515261427	SHANK3	c.2966A>C (p.Gln989Pro) n.3550A>C c.2018A>C (p.Gln673Pro) c.1508A>C (p.Gln503Pro) c.1964A>C (n.1964A>C) c.3362A>C (p.Gln1121Pro) c.3344A>C (p.Gln1115Pro)
22	g.50721198A>G	CA515261428	SHANK3	c.2966A>G (p.Gln989Arg) n.3550A>G c.2018A>G (p.Gln673Arg) c.1508A>G (p.Gln503Arg) c.1964A>G (n.1964A>G) c.3362A>G (p.Gln1121Arg) c.3344A>G (p.Gln1115Arg)	gnomAD v4
22	g.50721198A>T	CA515261429	SHANK3	c.2966A>T (p.Gln989Leu) n.3550A>T c.2018A>T (p.Gln673Leu) c.1508A>T (p.Gln503Leu) c.1964A>T (n.1964A>T) c.3362A>T (p.Gln1121Leu) c.3344A>T (p.Gln1115Leu)
22	g.50721199G>A	CA515261431	SHANK3	c.2967G>A (p.Gln989=) n.3551G>A c.2019G>A (p.Gln673=) c.1509G>A (p.Gln503=) c.1965G>A (n.1965G>A) c.3363G>A (p.Gln1121=) c.3345G>A (p.Gln1115=)
22	g.50721199G>C	CA515261432	SHANK3	c.2967G>C (p.Gln989His) n.3551G>C c.2019G>C (p.Gln673His) c.1509G>C (p.Gln503His) c.1965G>C (n.1965G>C) c.3363G>C (p.Gln1121His) c.3345G>C (p.Gln1115His)
22	g.50721199G>T	CA515261430	SHANK3	c.2967G>T (p.Gln989His) n.3551G>T c.2019G>T (p.Gln673His) c.1509G>T (p.Gln503His) c.1965G>T (n.1965G>T) c.3363G>T (p.Gln1121His) c.3345G>T (p.Gln1115His)
22	g.50721200G>A	CA515261433	SHANK3	c.2968G>A (p.Ala990Thr) n.3552G>A c.2020G>A (p.Ala674Thr) c.1510G>A (p.Ala504Thr) c.1966G>A (n.1966G>A) c.3364G>A (p.Ala1122Thr) c.3346G>A (p.Ala1116Thr)
22	g.50721200G>C	CA515261434	SHANK3	c.2968G>C (p.Ala990Pro) n.3552G>C c.2020G>C (p.Ala674Pro) c.1510G>C (p.Ala504Pro) c.1966G>C (n.1966G>C) c.3364G>C (p.Ala1122Pro) c.3346G>C (p.Ala1116Pro)	ClinVar dbSNP
22	g.50721200G>T	CA515261435	SHANK3	c.2968G>T (p.Ala990Ser) n.3552G>T c.2020G>T (p.Ala674Ser) c.1510G>T (p.Ala504Ser) c.1966G>T (n.1966G>T) c.3364G>T (p.Ala1122Ser) c.3346G>T (p.Ala1116Ser)	gnomAD v4
22	g.50721201C>A	CA515261436	SHANK3	c.2969C>A (p.Ala990Glu) n.3553C>A c.2021C>A (p.Ala674Glu) c.1511C>A (p.Ala504Glu) c.1967C>A (n.1967C>A) c.3365C>A (p.Ala1122Glu) c.3347C>A (p.Ala1116Glu)	gnomAD v4
22	g.50721201C=	CA2411008086	SHANK3	c.2969C= (p.Ala990=) n.3553C= c.2021C= (p.Ala674=) c.1511C= (p.Ala504=) c.1967C= (n.1967C=) c.3365C= (p.Ala1122=) c.3347C= (p.Ala1116=)
22	g.50721201C>G	CA515261437	SHANK3	c.2969C>G (p.Ala990Gly) n.3553C>G c.2021C>G (p.Ala674Gly) c.1511C>G (p.Ala504Gly) c.1967C>G (n.1967C>G) c.3365C>G (p.Ala1122Gly) c.3347C>G (p.Ala1116Gly)
22	g.50721201C>T	CA515261438	SHANK3	c.2969C>T (p.Ala990Val) n.3553C>T c.2021C>T (p.Ala674Val) c.1511C>T (p.Ala504Val) c.1967C>T (n.1967C>T) c.3365C>T (p.Ala1122Val) c.3347C>T (p.Ala1116Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50721202G>A	CA515261440	SHANK3	c.2970G>A (p.Ala990=) n.3554G>A c.2022G>A (p.Ala674=) c.1512G>A (p.Ala504=) c.1968G>A (n.1968G>A) c.3366G>A (p.Ala1122=) c.3348G>A (p.Ala1116=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
22	g.50721202G>C	CA325578741	SHANK3	c.2970G>C (p.Ala990=) n.3554G>C c.2022G>C (p.Ala674=) c.1512G>C (p.Ala504=) c.1968G>C (n.1968G>C) c.3366G>C (p.Ala1122=) c.3348G>C (p.Ala1116=)	dbSNP
22	g.50721202G=	CA2411008087	SHANK3	c.2970G= (p.Ala990=) n.3554G= c.2022G= (p.Ala674=) c.1512G= (p.Ala504=) c.1968G= (n.1968G=) c.3366G= (p.Ala1122=) c.3348G= (p.Ala1116=)
22	g.50721202G>T	CA515261439	SHANK3	c.2970G>T (p.Ala990=) n.3554G>T c.2022G>T (p.Ala674=) c.1512G>T (p.Ala504=) c.1968G>T (n.1968G>T) c.3366G>T (p.Ala1122=) c.3348G>T (p.Ala1116=)	gnomAD v4
22	g.50721202_50721203delinsGC	CA2411008088	SHANK3	c.2970_2971delinsGC (p.Ala990=) n.3554_3555delinsGC c.2022_2023delinsGC (p.Ala674=) c.1512_1513delinsGC (p.Ala504=) c.1968_1969delinsGC (n.1968_1969delinsGC) c.3366_3367delinsGC (p.Ala1122=) c.3348_3349delinsGC (p.Ala1116=)
22	g.50721203C>A	CA515261441	SHANK3	c.2971C>A (p.Pro991Thr) n.3555C>A c.2023C>A (p.Pro675Thr) c.1513C>A (p.Pro505Thr) c.1969C>A (n.1969C>A) c.3367C>A (p.Pro1123Thr) c.3349C>A (p.Pro1117Thr)
22	g.50721203C>G	CA515261442	SHANK3	c.2971C>G (p.Pro991Ala) n.3555C>G c.2023C>G (p.Pro675Ala) c.1513C>G (p.Pro505Ala) c.1969C>G (n.1969C>G) c.3367C>G (p.Pro1123Ala) c.3349C>G (p.Pro1117Ala)
22	g.50721203C>T	CA515261443	SHANK3	c.2971C>T (p.Pro991Ser) n.3555C>T c.2023C>T (p.Pro675Ser) c.1513C>T (p.Pro505Ser) c.1969C>T (n.1969C>T) c.3367C>T (p.Pro1123Ser) c.3349C>T (p.Pro1117Ser)	ClinVar dbSNP gnomAD v4
22	g.50721205del	CA1139667206	SHANK3	c.2973del (p.Ser992ProfsTer?) n.3557del c.2025del (p.Ser676ProfsTer?) c.1515del (p.Ser506ProfsTer?) c.1971del (n.1971del) c.3369del (p.Ser1124ProfsTer?) c.3351del (p.Ser1118ProfsTer?)	ClinVar dbSNP
22	g.50721204C>A	CA515261444	SHANK3	c.2972C>A (p.Pro991His) n.3556C>A c.2024C>A (p.Pro675His) c.1514C>A (p.Pro505His) c.1970C>A (n.1970C>A) c.3368C>A (p.Pro1123His) c.3350C>A (p.Pro1117His)	gnomAD v4
22	g.50721204C=	CA2411008089	SHANK3	c.2972C= (p.Pro991=) n.3556C= c.2024C= (p.Pro675=) c.1514C= (p.Pro505=) c.1970C= (n.1970C=) c.3368C= (p.Pro1123=) c.3350C= (p.Pro1117=)
22	g.50721204C>G	CA515261445	SHANK3	c.2972C>G (p.Pro991Arg) n.3556C>G c.2024C>G (p.Pro675Arg) c.1514C>G (p.Pro505Arg) c.1970C>G (n.1970C>G) c.3368C>G (p.Pro1123Arg) c.3350C>G (p.Pro1117Arg)
22	g.50721204C>T	CA10326010	SHANK3	c.2972C>T (p.Pro991Leu) n.3556C>T c.2024C>T (p.Pro675Leu) c.1514C>T (p.Pro505Leu) c.1970C>T (n.1970C>T) c.3368C>T (p.Pro1123Leu) c.3350C>T (p.Pro1117Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721205C>A	CA515261446	SHANK3	c.2973C>A (p.Pro991=) n.3557C>A c.2025C>A (p.Pro675=) c.1515C>A (p.Pro505=) c.1971C>A (n.1971C>A) c.3369C>A (p.Pro1123=) c.3351C>A (p.Pro1117=)	gnomAD v4
22	g.50721205C=	CA2411008090	SHANK3	c.2973C= (p.Pro991=) n.3557C= c.2025C= (p.Pro675=) c.1515C= (p.Pro505=) c.1971C= (n.1971C=) c.3369C= (p.Pro1123=) c.3351C= (p.Pro1117=)
22	g.50721205C>G	CA515261448	SHANK3	c.2973C>G (p.Pro991=) n.3557C>G c.2025C>G (p.Pro675=) c.1515C>G (p.Pro505=) c.1971C>G (n.1971C>G) c.3369C>G (p.Pro1123=) c.3351C>G (p.Pro1117=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721205C>T	CA515261447	SHANK3	c.2973C>T (p.Pro991=) n.3557C>T c.2025C>T (p.Pro675=) c.1515C>T (p.Pro505=) c.1971C>T (n.1971C>T) c.3369C>T (p.Pro1123=) c.3351C>T (p.Pro1117=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721206T>A	CA515261449	SHANK3	c.2974T>A (p.Ser992Thr) n.3558T>A c.2026T>A (p.Ser676Thr) c.1516T>A (p.Ser506Thr) c.1972T>A (n.1972T>A) c.3370T>A (p.Ser1124Thr) c.3352T>A (p.Ser1118Thr)
22	g.50721206T>C	CA515261450	SHANK3	c.2974T>C (p.Ser992Pro) n.3558T>C c.2026T>C (p.Ser676Pro) c.1516T>C (p.Ser506Pro) c.1972T>C (n.1972T>C) c.3370T>C (p.Ser1124Pro) c.3352T>C (p.Ser1118Pro)
22	g.50721206T>G	CA515261451	SHANK3	c.2974T>G (p.Ser992Ala) n.3558T>G c.2026T>G (p.Ser676Ala) c.1516T>G (p.Ser506Ala) c.1972T>G (n.1972T>G) c.3370T>G (p.Ser1124Ala) c.3352T>G (p.Ser1118Ala)
22	g.50721207C>A	CA515261452	SHANK3	c.2975C>A (p.Ser992Tyr) n.3559C>A c.2027C>A (p.Ser676Tyr) c.1517C>A (p.Ser506Tyr) c.1973C>A (n.1973C>A) c.3371C>A (p.Ser1124Tyr) c.3353C>A (p.Ser1118Tyr)	gnomAD v4
22	g.50721207C=	CA2411008091	SHANK3	c.2975C= (p.Ser992=) n.3559C= c.2027C= (p.Ser676=) c.1517C= (p.Ser506=) c.1973C= (n.1973C=) c.3371C= (p.Ser1124=) c.3353C= (p.Ser1118=)
22	g.50721207C>G	CA515261453	SHANK3	c.2975C>G (p.Ser992Cys) n.3559C>G c.2027C>G (p.Ser676Cys) c.1517C>G (p.Ser506Cys) c.1973C>G (n.1973C>G) c.3371C>G (p.Ser1124Cys) c.3353C>G (p.Ser1118Cys)
22	g.50721207C>T	CA515261454	SHANK3	c.2975C>T (p.Ser992Phe) n.3559C>T c.2027C>T (p.Ser676Phe) c.1517C>T (p.Ser506Phe) c.1973C>T (n.1973C>T) c.3371C>T (p.Ser1124Phe) c.3353C>T (p.Ser1118Phe)	dbSNP COSMIC COSMIC
22	g.50721208C>A	CA515261455	SHANK3	c.2976C>A (p.Ser992=) n.3560C>A c.2028C>A (p.Ser676=) c.1518C>A (p.Ser506=) c.1974C>A (n.1974C>A) c.3372C>A (p.Ser1124=) c.3354C>A (p.Ser1118=)	gnomAD v4
22	g.50721208C>G	CA515261456	SHANK3	c.2976C>G (p.Ser992=) n.3560C>G c.2028C>G (p.Ser676=) c.1518C>G (p.Ser506=) c.1974C>G (n.1974C>G) c.3372C>G (p.Ser1124=) c.3354C>G (p.Ser1118=)
22	g.50721208C>T	CA515261457	SHANK3	c.2976C>T (p.Ser992=) n.3560C>T c.2028C>T (p.Ser676=) c.1518C>T (p.Ser506=) c.1974C>T (n.1974C>T) c.3372C>T (p.Ser1124=) c.3354C>T (p.Ser1118=)
22	g.50721209C>A	CA515261458	SHANK3	c.2977C>A (p.Arg993=) n.3561C>A c.2029C>A (p.Arg677=) c.1519C>A (p.Arg507=) c.1975C>A (n.1975C>A) c.3373C>A (p.Arg1125=) c.3355C>A (p.Arg1119=)	gnomAD v4
22	g.50721209C=	CA2411008092	SHANK3	c.2977C= (p.Arg993=) n.3561C= c.2029C= (p.Arg677=) c.1519C= (p.Arg507=) c.1975C= (n.1975C=) c.3373C= (p.Arg1125=) c.3355C= (p.Arg1119=)
22	g.50721209C>G	CA515261459	SHANK3	c.2977C>G (p.Arg993Gly) n.3561C>G c.2029C>G (p.Arg677Gly) c.1519C>G (p.Arg507Gly) c.1975C>G (n.1975C>G) c.3373C>G (p.Arg1125Gly) c.3355C>G (p.Arg1119Gly)	gnomAD v4
22	g.50721209C>T	CA10326011	SHANK3	c.2977C>T (p.Arg993Trp) n.3561C>T c.2029C>T (p.Arg677Trp) c.1519C>T (p.Arg507Trp) c.1975C>T (n.1975C>T) c.3373C>T (p.Arg1125Trp) c.3355C>T (p.Arg1119Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721210G>A	CA10326012	SHANK3	c.2978G>A (p.Arg993Gln) n.3562G>A c.2030G>A (p.Arg677Gln) c.1520G>A (p.Arg507Gln) c.1976G>A (n.1976G>A) c.3374G>A (p.Arg1125Gln) c.3356G>A (p.Arg1119Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721210G>C	CA325578768	SHANK3	c.2978G>C (p.Arg993Pro) n.3562G>C c.2030G>C (p.Arg677Pro) c.1520G>C (p.Arg507Pro) c.1976G>C (n.1976G>C) c.3374G>C (p.Arg1125Pro) c.3356G>C (p.Arg1119Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721210G=	CA2411008093	SHANK3	c.2978G= (p.Arg993=) n.3562G= c.2030G= (p.Arg677=) c.1520G= (p.Arg507=) c.1976G= (n.1976G=) c.3374G= (p.Arg1125=) c.3356G= (p.Arg1119=)
22	g.50721210G>T	CA515261460	SHANK3	c.2978G>T (p.Arg993Leu) n.3562G>T c.2030G>T (p.Arg677Leu) c.1520G>T (p.Arg507Leu) c.1976G>T (n.1976G>T) c.3374G>T (p.Arg1125Leu) c.3356G>T (p.Arg1119Leu)	gnomAD v4
22	g.50721211G>A	CA515261461	SHANK3	c.2979G>A (p.Arg993=) n.3563G>A c.2031G>A (p.Arg677=) c.1521G>A (p.Arg507=) c.1977G>A (n.1977G>A) c.3375G>A (p.Arg1125=) c.3357G>A (p.Arg1119=)	gnomAD v4
22	g.50721211G>C	CA515261462	SHANK3	c.2979G>C (p.Arg993=) n.3563G>C c.2031G>C (p.Arg677=) c.1521G>C (p.Arg507=) c.1977G>C (n.1977G>C) c.3375G>C (p.Arg1125=) c.3357G>C (p.Arg1119=)
22	g.50721211G>T	CA515261463	SHANK3	c.2979G>T (p.Arg993=) n.3563G>T c.2031G>T (p.Arg677=) c.1521G>T (p.Arg507=) c.1977G>T (n.1977G>T) c.3375G>T (p.Arg1125=) c.3357G>T (p.Arg1119=)	gnomAD v4
22	g.50721211_50721212delinsGT	CA2411008094	SHANK3	c.2979_2980delinsGT (p.Arg993=) n.3563_3564delinsGT c.2031_2032delinsGT (p.Arg677=) c.1521_1522delinsGT (p.Arg507=) c.1977_1978delinsGT (n.1977_1978delinsGT) c.3375_3376delinsGT (p.Arg1125=) c.3357_3358delinsGT (p.Arg1119=)
22	g.50721212T>A	CA515261464	SHANK3	c.2980T>A (p.Ser994Thr) n.3564T>A c.2032T>A (p.Ser678Thr) c.1522T>A (p.Ser508Thr) c.1978T>A (n.1978T>A) c.3376T>A (p.Ser1126Thr) c.3358T>A (p.Ser1120Thr)
22	g.50721212T>C	CA515261465	SHANK3	c.2980T>C (p.Ser994Pro) n.3564T>C c.2032T>C (p.Ser678Pro) c.1522T>C (p.Ser508Pro) c.1978T>C (n.1978T>C) c.3376T>C (p.Ser1126Pro) c.3358T>C (p.Ser1120Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721212T>G	CA515261466	SHANK3	c.2980T>G (p.Ser994Ala) n.3564T>G c.2032T>G (p.Ser678Ala) c.1522T>G (p.Ser508Ala) c.1978T>G (n.1978T>G) c.3376T>G (p.Ser1126Ala) c.3358T>G (p.Ser1120Ala)	gnomAD v4
22	g.50721212T=	CA2411008095	SHANK3	c.2980T= (p.Ser994=) n.3564T= c.2032T= (p.Ser678=) c.1522T= (p.Ser508=) c.1978T= (n.1978T=) c.3376T= (p.Ser1126=) c.3358T= (p.Ser1120=)
22	g.50721212delinsCC	CA658799570	SHANK3	c.2980delinsCC (p.Ser994ProfsTer?) n.3564delinsCC c.2032delinsCC (p.Ser678ProfsTer?) c.1522delinsCC (p.Ser508ProfsTer?) c.1978delinsCC (n.1978delinsCC) c.3376delinsCC (p.Ser1126ProfsTer?) c.3358delinsCC (p.Ser1120ProfsTer?)	ClinVar dbSNP
22	g.50721213C>A	CA515261467	SHANK3	c.2981C>A (p.Ser994Tyr) n.3565C>A c.2033C>A (p.Ser678Tyr) c.1523C>A (p.Ser508Tyr) c.1979C>A (n.1979C>A) c.3377C>A (p.Ser1126Tyr) c.3359C>A (p.Ser1120Tyr)	gnomAD v4
22	g.50721213C=	CA2411008096	SHANK3	c.2981C= (p.Ser994=) n.3565C= c.2033C= (p.Ser678=) c.1523C= (p.Ser508=) c.1979C= (n.1979C=) c.3377C= (p.Ser1126=) c.3359C= (p.Ser1120=)
22	g.50721213C>G	CA10326013	SHANK3	c.2981C>G (p.Ser994Cys) n.3565C>G c.2033C>G (p.Ser678Cys) c.1523C>G (p.Ser508Cys) c.1979C>G (n.1979C>G) c.3377C>G (p.Ser1126Cys) c.3359C>G (p.Ser1120Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721213C>T	CA515261468	SHANK3	c.2981C>T (p.Ser994Phe) n.3565C>T c.2033C>T (p.Ser678Phe) c.1523C>T (p.Ser508Phe) c.1979C>T (n.1979C>T) c.3377C>T (p.Ser1126Phe) c.3359C>T (p.Ser1120Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721214C>A	CA515261469	SHANK3	c.2982C>A (p.Ser994=) n.3566C>A c.2034C>A (p.Ser678=) c.1524C>A (p.Ser508=) c.1980C>A (n.1980C>A) c.3378C>A (p.Ser1126=) c.3360C>A (p.Ser1120=)
22	g.50721214C>G	CA515261470	SHANK3	c.2982C>G (p.Ser994=) n.3566C>G c.2034C>G (p.Ser678=) c.1524C>G (p.Ser508=) c.1980C>G (n.1980C>G) c.3378C>G (p.Ser1126=) c.3360C>G (p.Ser1120=)
22	g.50721214C>T	CA515261471	SHANK3	c.2982C>T (p.Ser994=) n.3566C>T c.2034C>T (p.Ser678=) c.1524C>T (p.Ser508=) c.1980C>T (n.1980C>T) c.3378C>T (p.Ser1126=) c.3360C>T (p.Ser1120=)
22	g.50721215C>A	CA515261474	SHANK3	c.2983C>A (p.Pro995Thr) n.3567C>A c.2035C>A (p.Pro679Thr) c.1525C>A (p.Pro509Thr) c.1981C>A (n.1981C>A) c.3379C>A (p.Pro1127Thr) c.3361C>A (p.Pro1121Thr)	gnomAD v4
22	g.50721215C>G	CA515261472	SHANK3	c.2983C>G (p.Pro995Ala) n.3567C>G c.2035C>G (p.Pro679Ala) c.1525C>G (p.Pro509Ala) c.1981C>G (n.1981C>G) c.3379C>G (p.Pro1127Ala) c.3361C>G (p.Pro1121Ala)	gnomAD v4
22	g.50721215C>T	CA515261473	SHANK3	c.2983C>T (p.Pro995Ser) n.3567C>T c.2035C>T (p.Pro679Ser) c.1525C>T (p.Pro509Ser) c.1981C>T (n.1981C>T) c.3379C>T (p.Pro1127Ser) c.3361C>T (p.Pro1121Ser)
22	g.50721216C>A	CA515261475	SHANK3	c.2984C>A (p.Pro995His) n.3568C>A c.2036C>A (p.Pro679His) c.1526C>A (p.Pro509His) c.1982C>A (n.1982C>A) c.3380C>A (p.Pro1127His) c.3362C>A (p.Pro1121His)	gnomAD v4
22	g.50721216C>G	CA515261476	SHANK3	c.2984C>G (p.Pro995Arg) n.3568C>G c.2036C>G (p.Pro679Arg) c.1526C>G (p.Pro509Arg) c.1982C>G (n.1982C>G) c.3380C>G (p.Pro1127Arg) c.3362C>G (p.Pro1121Arg)	gnomAD v4
22	g.50721216C>T	CA515261477	SHANK3	c.2984C>T (p.Pro995Leu) n.3568C>T c.2036C>T (p.Pro679Leu) c.1526C>T (p.Pro509Leu) c.1982C>T (n.1982C>T) c.3380C>T (p.Pro1127Leu) c.3362C>T (p.Pro1121Leu)	gnomAD v4 COSMIC COSMIC
22	g.50721217C>A	CA515261478	SHANK3	c.2985C>A (p.Pro995=) n.3569C>A c.2037C>A (p.Pro679=) c.1527C>A (p.Pro509=) c.1983C>A (n.1983C>A) c.3381C>A (p.Pro1127=) c.3363C>A (p.Pro1121=)	gnomAD v4
22	g.50721217C=	CA2411008097	SHANK3	c.2985C= (p.Pro995=) n.3569C= c.2037C= (p.Pro679=) c.1527C= (p.Pro509=) c.1983C= (n.1983C=) c.3381C= (p.Pro1127=) c.3363C= (p.Pro1121=)
22	g.50721217C>G	CA515261479	SHANK3	c.2985C>G (p.Pro995=) n.3569C>G c.2037C>G (p.Pro679=) c.1527C>G (p.Pro509=) c.1983C>G (n.1983C>G) c.3381C>G (p.Pro1127=) c.3363C>G (p.Pro1121=)	gnomAD v4
22	g.50721217C>T	CA515261480	SHANK3	c.2985C>T (p.Pro995=) n.3569C>T c.2037C>T (p.Pro679=) c.1527C>T (p.Pro509=) c.1983C>T (n.1983C>T) c.3381C>T (p.Pro1127=) c.3363C>T (p.Pro1121=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721218A>C	CA515261481	SHANK3	c.2986A>C (p.Thr996Pro) n.3570A>C c.2038A>C (p.Thr680Pro) c.1528A>C (p.Thr510Pro) c.1984A>C (n.1984A>C) c.3382A>C (p.Thr1128Pro) c.3364A>C (p.Thr1122Pro)
22	g.50721218A>G	CA515261482	SHANK3	c.2986A>G (p.Thr996Ala) n.3570A>G c.2038A>G (p.Thr680Ala) c.1528A>G (p.Thr510Ala) c.1984A>G (n.1984A>G) c.3382A>G (p.Thr1128Ala) c.3364A>G (p.Thr1122Ala)
22	g.50721218A>T	CA515261483	SHANK3	c.2986A>T (p.Thr996Ser) n.3570A>T c.2038A>T (p.Thr680Ser) c.1528A>T (p.Thr510Ser) c.1984A>T (n.1984A>T) c.3382A>T (p.Thr1128Ser) c.3364A>T (p.Thr1122Ser)
22	g.50721219C>A	CA515261484	SHANK3	c.2987C>A (p.Thr996Lys) n.3571C>A c.2039C>A (p.Thr680Lys) c.1529C>A (p.Thr510Lys) c.1985C>A (n.1985C>A) c.3383C>A (p.Thr1128Lys) c.3365C>A (p.Thr1122Lys)	dbSNP
22	g.50721219C>G	CA515261485	SHANK3	c.2987C>G (p.Thr996Arg) n.3571C>G c.2039C>G (p.Thr680Arg) c.1529C>G (p.Thr510Arg) c.1985C>G (n.1985C>G) c.3383C>G (p.Thr1128Arg) c.3365C>G (p.Thr1122Arg)
22	g.50721219C>T	CA515261486	SHANK3	c.2987C>T (p.Thr996Ile) n.3571C>T c.2039C>T (p.Thr680Ile) c.1529C>T (p.Thr510Ile) c.1985C>T (n.1985C>T) c.3383C>T (p.Thr1128Ile) c.3365C>T (p.Thr1122Ile)	gnomAD v4
22	g.50721220A=	CA2411008098	SHANK3	c.2988A= (p.Thr996=) n.3572A= c.2040A= (p.Thr680=) c.1530A= (p.Thr510=) c.1986A= (n.1986A=) c.3384A= (p.Thr1128=) c.3366A= (p.Thr1122=)
22	g.50721220A>C	CA515261487	SHANK3	c.2988A>C (p.Thr996=) n.3572A>C c.2040A>C (p.Thr680=) c.1530A>C (p.Thr510=) c.1986A>C (n.1986A>C) c.3384A>C (p.Thr1128=) c.3366A>C (p.Thr1122=)
22	g.50721220A>G	CA10326014	SHANK3	c.2988A>G (p.Thr996=) n.3572A>G c.2040A>G (p.Thr680=) c.1530A>G (p.Thr510=) c.1986A>G (n.1986A>G) c.3384A>G (p.Thr1128=) c.3366A>G (p.Thr1122=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721220A>T	CA10326015	SHANK3	c.2988A>T (p.Thr996=) n.3572A>T c.2040A>T (p.Thr680=) c.1530A>T (p.Thr510=) c.1986A>T (n.1986A>T) c.3384A>T (p.Thr1128=) c.3366A>T (p.Thr1122=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721221C>A	CA515261488	SHANK3	c.2989C>A (p.Pro997Thr) n.3573C>A c.2041C>A (p.Pro681Thr) c.1531C>A (p.Pro511Thr) c.1987C>A (n.1987C>A) c.3385C>A (p.Pro1129Thr) c.3367C>A (p.Pro1123Thr)
22	g.50721221C=	CA2411008099	SHANK3	c.2989C= (p.Pro997=) n.3573C= c.2041C= (p.Pro681=) c.1531C= (p.Pro511=) c.1987C= (n.1987C=) c.3385C= (p.Pro1129=) c.3367C= (p.Pro1123=)
22	g.50721221C>G	CA515261490	SHANK3	c.2989C>G (p.Pro997Ala) n.3573C>G c.2041C>G (p.Pro681Ala) c.1531C>G (p.Pro511Ala) c.1987C>G (n.1987C>G) c.3385C>G (p.Pro1129Ala) c.3367C>G (p.Pro1123Ala)	gnomAD v4
22	g.50721221C>T	CA515261489	SHANK3	c.2989C>T (p.Pro997Ser) n.3573C>T c.2041C>T (p.Pro681Ser) c.1531C>T (p.Pro511Ser) c.1987C>T (n.1987C>T) c.3385C>T (p.Pro1129Ser) c.3367C>T (p.Pro1123Ser)	dbSNP gnomAD v4
22	g.50721222C>A	CA515261491	SHANK3	c.2990C>A (p.Pro997His) n.3574C>A c.2042C>A (p.Pro681His) c.1532C>A (p.Pro511His) c.1988C>A (n.1988C>A) c.3386C>A (p.Pro1129His) c.3368C>A (p.Pro1123His)
22	g.50721222C>G	CA515261493	SHANK3	c.2990C>G (p.Pro997Arg) n.3574C>G c.2042C>G (p.Pro681Arg) c.1532C>G (p.Pro511Arg) c.1988C>G (n.1988C>G) c.3386C>G (p.Pro1129Arg) c.3368C>G (p.Pro1123Arg)
22	g.50721222C>T	CA515261492	SHANK3	c.2990C>T (p.Pro997Leu) n.3574C>T c.2042C>T (p.Pro681Leu) c.1532C>T (p.Pro511Leu) c.1988C>T (n.1988C>T) c.3386C>T (p.Pro1129Leu) c.3368C>T (p.Pro1123Leu)	gnomAD v4
22	g.50721223C>A	CA515261494	SHANK3	c.2991C>A (p.Pro997=) n.3575C>A c.2043C>A (p.Pro681=) c.1533C>A (p.Pro511=) c.1989C>A (n.1989C>A) c.3387C>A (p.Pro1129=) c.3369C>A (p.Pro1123=)	gnomAD v4
22	g.50721223C=	CA2411008100	SHANK3	c.2991C= (p.Pro997=) n.3575C= c.2043C= (p.Pro681=) c.1533C= (p.Pro511=) c.1989C= (n.1989C=) c.3387C= (p.Pro1129=) c.3369C= (p.Pro1123=)
22	g.50721223C>G	CA515261496	SHANK3	c.2991C>G (p.Pro997=) n.3575C>G c.2043C>G (p.Pro681=) c.1533C>G (p.Pro511=) c.1989C>G (n.1989C>G) c.3387C>G (p.Pro1129=) c.3369C>G (p.Pro1123=)
22	g.50721223C>T	CA515261495	SHANK3	c.2991C>T (p.Pro997=) n.3575C>T c.2043C>T (p.Pro681=) c.1533C>T (p.Pro511=) c.1989C>T (n.1989C>T) c.3387C>T (p.Pro1129=) c.3369C>T (p.Pro1123=)	dbSNP gnomAD v4
22	g.50721224G>A	CA515261497	SHANK3	c.2992G>A (p.Val998Met) n.3576G>A c.2044G>A (p.Val682Met) c.1534G>A (p.Val512Met) c.1990G>A (n.1990G>A) c.3388G>A (p.Val1130Met) c.3370G>A (p.Val1124Met)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50721224G>C	CA10326016	SHANK3	c.2992G>C (p.Val998Leu) n.3576G>C c.2044G>C (p.Val682Leu) c.1534G>C (p.Val512Leu) c.1990G>C (n.1990G>C) c.3388G>C (p.Val1130Leu) c.3370G>C (p.Val1124Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721224G=	CA2411008101	SHANK3	c.2992G= (p.Val998=) n.3576G= c.2044G= (p.Val682=) c.1534G= (p.Val512=) c.1990G= (n.1990G=) c.3388G= (p.Val1130=) c.3370G= (p.Val1124=)
22	g.50721224G>T	CA515261498	SHANK3	c.2992G>T (p.Val998Leu) n.3576G>T c.2044G>T (p.Val682Leu) c.1534G>T (p.Val512Leu) c.1990G>T (n.1990G>T) c.3388G>T (p.Val1130Leu) c.3370G>T (p.Val1124Leu)
22	g.50721225T>A	CA515261499	SHANK3	c.2993T>A (p.Val998Glu) n.3577T>A c.2045T>A (p.Val682Glu) c.1535T>A (p.Val512Glu) c.1991T>A (n.1991T>A) c.3389T>A (p.Val1130Glu) c.3371T>A (p.Val1124Glu)
22	g.50721225T>C	CA515261500	SHANK3	c.2993T>C (p.Val998Ala) n.3577T>C c.2045T>C (p.Val682Ala) c.1535T>C (p.Val512Ala) c.1991T>C (n.1991T>C) c.3389T>C (p.Val1130Ala) c.3371T>C (p.Val1124Ala)
22	g.50721225T>G	CA515261501	SHANK3	c.2993T>G (p.Val998Gly) n.3577T>G c.2045T>G (p.Val682Gly) c.1535T>G (p.Val512Gly) c.1991T>G (n.1991T>G) c.3389T>G (p.Val1130Gly) c.3371T>G (p.Val1124Gly)
22	g.50721226G>A	CA515261502	SHANK3	c.2994G>A (p.Val998=) n.3578G>A c.2046G>A (p.Val682=) c.1536G>A (p.Val512=) c.1992G>A (n.1992G>A) c.3390G>A (p.Val1130=) c.3372G>A (p.Val1124=)	gnomAD v4
22	g.50721226G>C	CA515261503	SHANK3	c.2994G>C (p.Val998=) n.3578G>C c.2046G>C (p.Val682=) c.1536G>C (p.Val512=) c.1992G>C (n.1992G>C) c.3390G>C (p.Val1130=) c.3372G>C (p.Val1124=)
22	g.50721226G=	CA2411008102	SHANK3	c.2994G= (p.Val998=) n.3578G= c.2046G= (p.Val682=) c.1536G= (p.Val512=) c.1992G= (n.1992G=) c.3390G= (p.Val1130=) c.3372G= (p.Val1124=)
22	g.50721226G>T	CA515261504	SHANK3	c.2994G>T (p.Val998=) n.3578G>T c.2046G>T (p.Val682=) c.1536G>T (p.Val512=) c.1992G>T (n.1992G>T) c.3390G>T (p.Val1130=) c.3372G>T (p.Val1124=)	dbSNP gnomAD v4
22	g.50721227C>A	CA515261505	SHANK3	c.2995C>A (p.His999Asn) n.3579C>A c.2047C>A (p.His683Asn) c.1537C>A (p.His513Asn) c.1993C>A (n.1993C>A) c.3391C>A (p.His1131Asn) c.3373C>A (p.His1125Asn)
22	g.50721227C>G	CA515261506	SHANK3	c.2995C>G (p.His999Asp) n.3579C>G c.2047C>G (p.His683Asp) c.1537C>G (p.His513Asp) c.1993C>G (n.1993C>G) c.3391C>G (p.His1131Asp) c.3373C>G (p.His1125Asp)
22	g.50721227C>T	CA515261507	SHANK3	c.2995C>T (p.His999Tyr) n.3579C>T c.2047C>T (p.His683Tyr) c.1537C>T (p.His513Tyr) c.1993C>T (n.1993C>T) c.3391C>T (p.His1131Tyr) c.3373C>T (p.His1125Tyr)
22	g.50721228A=	CA2411008103	SHANK3	c.2996A= (p.His999=) n.3580A= c.2048A= (p.His683=) c.1538A= (p.His513=) c.1994A= (n.1994A=) c.3392A= (p.His1131=) c.3374A= (p.His1125=)
22	g.50721228A>C	CA515261508	SHANK3	c.2996A>C (p.His999Pro) n.3580A>C c.2048A>C (p.His683Pro) c.1538A>C (p.His513Pro) c.1994A>C (n.1994A>C) c.3392A>C (p.His1131Pro) c.3374A>C (p.His1125Pro)	gnomAD v4
22	g.50721228A>G	CA515261510	SHANK3	c.2996A>G (p.His999Arg) n.3580A>G c.2048A>G (p.His683Arg) c.1538A>G (p.His513Arg) c.1994A>G (n.1994A>G) c.3392A>G (p.His1131Arg) c.3374A>G (p.His1125Arg)	dbSNP gnomAD v2 gnomAD v4
22	g.50721228A>T	CA515261509	SHANK3	c.2996A>T (p.His999Leu) n.3580A>T c.2048A>T (p.His683Leu) c.1538A>T (p.His513Leu) c.1994A>T (n.1994A>T) c.3392A>T (p.His1131Leu) c.3374A>T (p.His1125Leu)
22	g.50721229C>A	CA515261511	SHANK3	c.2997C>A (p.His999Gln) n.3581C>A c.2049C>A (p.His683Gln) c.1539C>A (p.His513Gln) c.1995C>A (n.1995C>A) c.3393C>A (p.His1131Gln) c.3375C>A (p.His1125Gln)	gnomAD v4
22	g.50721229C=	CA2411008104	SHANK3	c.2997C= (p.His999=) n.3581C= c.2049C= (p.His683=) c.1539C= (p.His513=) c.1995C= (n.1995C=) c.3393C= (p.His1131=) c.3375C= (p.His1125=)
22	g.50721229C>G	CA515261512	SHANK3	c.2997C>G (p.His999Gln) n.3581C>G c.2049C>G (p.His683Gln) c.1539C>G (p.His513Gln) c.1995C>G (n.1995C>G) c.3393C>G (p.His1131Gln) c.3375C>G (p.His1125Gln)
22	g.50721229C>T	CA515261513	SHANK3	c.2997C>T (p.His999=) n.3581C>T c.2049C>T (p.His683=) c.1539C>T (p.His513=) c.1995C>T (n.1995C>T) c.3393C>T (p.His1131=) c.3375C>T (p.His1125=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721230A>C	CA515261514	SHANK3	c.2998A>C (p.Ser1000Arg) n.3582A>C c.2050A>C (p.Ser684Arg) c.1540A>C (p.Ser514Arg) c.1996A>C (n.1996A>C) c.3394A>C (p.Ser1132Arg) c.3376A>C (p.Ser1126Arg)
22	g.50721230A>G	CA515261515	SHANK3	c.2998A>G (p.Ser1000Gly) n.3582A>G c.2050A>G (p.Ser684Gly) c.1540A>G (p.Ser514Gly) c.1996A>G (n.1996A>G) c.3394A>G (p.Ser1132Gly) c.3376A>G (p.Ser1126Gly)	gnomAD v4
22	g.50721230A>T	CA515261516	SHANK3	c.2998A>T (p.Ser1000Cys) n.3582A>T c.2050A>T (p.Ser684Cys) c.1540A>T (p.Ser514Cys) c.1996A>T (n.1996A>T) c.3394A>T (p.Ser1132Cys) c.3376A>T (p.Ser1126Cys)
22	g.50721231G>A	CA515261517	SHANK3	c.2999G>A (p.Ser1000Asn) n.3583G>A c.2051G>A (p.Ser684Asn) c.1541G>A (p.Ser514Asn) c.1997G>A (n.1997G>A) c.3395G>A (p.Ser1132Asn) c.3377G>A (p.Ser1126Asn)	gnomAD v4
22	g.50721231G>C	CA10326017	SHANK3	c.2999G>C (p.Ser1000Thr) n.3583G>C c.2051G>C (p.Ser684Thr) c.1541G>C (p.Ser514Thr) c.1997G>C (n.1997G>C) c.3395G>C (p.Ser1132Thr) c.3377G>C (p.Ser1126Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721231G=	CA2411008105	SHANK3	c.2999G= (p.Ser1000=) n.3583G= c.2051G= (p.Ser684=) c.1541G= (p.Ser514=) c.1997G= (n.1997G=) c.3395G= (p.Ser1132=) c.3377G= (p.Ser1126=)
22	g.50721231G>T	CA515261518	SHANK3	c.2999G>T (p.Ser1000Ile) n.3583G>T c.2051G>T (p.Ser684Ile) c.1541G>T (p.Ser514Ile) c.1997G>T (n.1997G>T) c.3395G>T (p.Ser1132Ile) c.3377G>T (p.Ser1126Ile)
22	g.50721232T>A	CA515261520	SHANK3	c.3000T>A (p.Ser1000Arg) n.3584T>A c.2052T>A (p.Ser684Arg) c.1542T>A (p.Ser514Arg) c.1998T>A (n.1998T>A) c.3396T>A (p.Ser1132Arg) c.3378T>A (p.Ser1126Arg)
22	g.50721232T>C	CA515261521	SHANK3	c.3000T>C (p.Ser1000=) n.3584T>C c.2052T>C (p.Ser684=) c.1542T>C (p.Ser514=) c.1998T>C (n.1998T>C) c.3396T>C (p.Ser1132=) c.3378T>C (p.Ser1126=)
22	g.50721232T>G	CA515261519	SHANK3	c.3000T>G (p.Ser1000Arg) n.3584T>G c.2052T>G (p.Ser684Arg) c.1542T>G (p.Ser514Arg) c.1998T>G (n.1998T>G) c.3396T>G (p.Ser1132Arg) c.3378T>G (p.Ser1126Arg)	gnomAD v4
22	g.50721233C>A	CA515261522	SHANK3	c.3001C>A (p.Pro1001Thr) n.3585C>A c.2053C>A (p.Pro685Thr) c.1543C>A (p.Pro515Thr) c.1999C>A (n.1999C>A) c.3397C>A (p.Pro1133Thr) c.3379C>A (p.Pro1127Thr)
22	g.50721233C>G	CA515261523	SHANK3	c.3001C>G (p.Pro1001Ala) n.3585C>G c.2053C>G (p.Pro685Ala) c.1543C>G (p.Pro515Ala) c.1999C>G (n.1999C>G) c.3397C>G (p.Pro1133Ala) c.3379C>G (p.Pro1127Ala)
22	g.50721233C>T	CA515261524	SHANK3	c.3001C>T (p.Pro1001Ser) n.3585C>T c.2053C>T (p.Pro685Ser) c.1543C>T (p.Pro515Ser) c.1999C>T (n.1999C>T) c.3397C>T (p.Pro1133Ser) c.3379C>T (p.Pro1127Ser)
22	g.50721234C>A	CA10326018	SHANK3	c.3002C>A (p.Pro1001His) n.3586C>A c.2054C>A (p.Pro685His) c.1544C>A (p.Pro515His) c.2000C>A (n.2000C>A) c.3398C>A (p.Pro1133His) c.3380C>A (p.Pro1127His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721234C=	CA2411008106	SHANK3	c.3002C= (p.Pro1001=) n.3586C= c.2054C= (p.Pro685=) c.1544C= (p.Pro515=) c.2000C= (n.2000C=) c.3398C= (p.Pro1133=) c.3380C= (p.Pro1127=)
22	g.50721234C>G	CA515261525	SHANK3	c.3002C>G (p.Pro1001Arg) n.3586C>G c.2054C>G (p.Pro685Arg) c.1544C>G (p.Pro515Arg) c.2000C>G (n.2000C>G) c.3398C>G (p.Pro1133Arg) c.3380C>G (p.Pro1127Arg)	ClinVar
22	g.50721234C>T	CA515261526	SHANK3	c.3002C>T (p.Pro1001Leu) n.3586C>T c.2054C>T (p.Pro685Leu) c.1544C>T (p.Pro515Leu) c.2000C>T (n.2000C>T) c.3398C>T (p.Pro1133Leu) c.3380C>T (p.Pro1127Leu)	dbSNP gnomAD v3 gnomAD v4
22	g.50721235C>A	CA515261527	SHANK3	c.3003C>A (p.Pro1001=) n.3587C>A c.2055C>A (p.Pro685=) c.1545C>A (p.Pro515=) c.2001C>A (n.2001C>A) c.3399C>A (p.Pro1133=) c.3381C>A (p.Pro1127=)	gnomAD v4
22	g.50721235C=	CA2411008107	SHANK3	c.3003C= (p.Pro1001=) n.3587C= c.2055C= (p.Pro685=) c.1545C= (p.Pro515=) c.2001C= (n.2001C=) c.3399C= (p.Pro1133=) c.3381C= (p.Pro1127=)
22	g.50721235C>G	CA515261528	SHANK3	c.3003C>G (p.Pro1001=) n.3587C>G c.2055C>G (p.Pro685=) c.1545C>G (p.Pro515=) c.2001C>G (n.2001C>G) c.3399C>G (p.Pro1133=) c.3381C>G (p.Pro1127=)	gnomAD v4
22	g.50721235C>T	CA10326019	SHANK3	c.3003C>T (p.Pro1001=) n.3587C>T c.2055C>T (p.Pro685=) c.1545C>T (p.Pro515=) c.2001C>T (n.2001C>T) c.3399C>T (p.Pro1133=) c.3381C>T (p.Pro1127=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721236G>A	CA515261529	SHANK3	c.3004G>A (p.Asp1002Asn) n.3588G>A c.2056G>A (p.Asp686Asn) c.1546G>A (p.Asp516Asn) c.2002G>A (n.2002G>A) c.3400G>A (p.Asp1134Asn) c.3382G>A (p.Asp1128Asn)	gnomAD v4
22	g.50721236G>C	CA515261530	SHANK3	c.3004G>C (p.Asp1002His) n.3588G>C c.2056G>C (p.Asp686His) c.1546G>C (p.Asp516His) c.2002G>C (n.2002G>C) c.3400G>C (p.Asp1134His) c.3382G>C (p.Asp1128His)
22	g.50721236G>T	CA515261531	SHANK3	c.3004G>T (p.Asp1002Tyr) n.3588G>T c.2056G>T (p.Asp686Tyr) c.1546G>T (p.Asp516Tyr) c.2002G>T (n.2002G>T) c.3400G>T (p.Asp1134Tyr) c.3382G>T (p.Asp1128Tyr)
22	g.50721237A=	CA2411008108	SHANK3	c.3005A= (p.Asp1002=) n.3589A= c.2057A= (p.Asp686=) c.1547A= (p.Asp516=) c.2003A= (n.2003A=) c.3401A= (p.Asp1134=) c.3383A= (p.Asp1128=)
22	g.50721237A>C	CA515261534	SHANK3	c.3005A>C (p.Asp1002Ala) n.3589A>C c.2057A>C (p.Asp686Ala) c.1547A>C (p.Asp516Ala) c.2003A>C (n.2003A>C) c.3401A>C (p.Asp1134Ala) c.3383A>C (p.Asp1128Ala)
22	g.50721237A>G	CA515261532	SHANK3	c.3005A>G (p.Asp1002Gly) n.3589A>G c.2057A>G (p.Asp686Gly) c.1547A>G (p.Asp516Gly) c.2003A>G (n.2003A>G) c.3401A>G (p.Asp1134Gly) c.3383A>G (p.Asp1128Gly)
22	g.50721237A>T	CA515261533	SHANK3	c.3005A>T (p.Asp1002Val) n.3589A>T c.2057A>T (p.Asp686Val) c.1547A>T (p.Asp516Val) c.2003A>T (n.2003A>T) c.3401A>T (p.Asp1134Val) c.3383A>T (p.Asp1128Val)	dbSNP
22	g.50721238C>A	CA515261535	SHANK3	c.3006C>A (p.Asp1002Glu) n.3590C>A c.2058C>A (p.Asp686Glu) c.1548C>A (p.Asp516Glu) c.2004C>A (n.2004C>A) c.3402C>A (p.Asp1134Glu) c.3384C>A (p.Asp1128Glu)
22	g.50721238C=	CA2411008109	SHANK3	c.3006C= (p.Asp1002=) n.3590C= c.2058C= (p.Asp686=) c.1548C= (p.Asp516=) c.2004C= (n.2004C=) c.3402C= (p.Asp1134=) c.3384C= (p.Asp1128=)
22	g.50721238C>G	CA515261536	SHANK3	c.3006C>G (p.Asp1002Glu) n.3590C>G c.2058C>G (p.Asp686Glu) c.1548C>G (p.Asp516Glu) c.2004C>G (n.2004C>G) c.3402C>G (p.Asp1134Glu) c.3384C>G (p.Asp1128Glu)
22	g.50721238C>T	CA325578824	SHANK3	c.3006C>T (p.Asp1002=) n.3590C>T c.2058C>T (p.Asp686=) c.1548C>T (p.Asp516=) c.2004C>T (n.2004C>T) c.3402C>T (p.Asp1134=) c.3384C>T (p.Asp1128=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721239G>A	CA10326020	SHANK3	c.3007G>A (p.Ala1003Thr) n.3591G>A c.2059G>A (p.Ala687Thr) c.1549G>A (p.Ala517Thr) c.2005G>A (n.2005G>A) c.3403G>A (p.Ala1135Thr) c.3385G>A (p.Ala1129Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721239G>C	CA515261537	SHANK3	c.3007G>C (p.Ala1003Pro) n.3591G>C c.2059G>C (p.Ala687Pro) c.1549G>C (p.Ala517Pro) c.2005G>C (n.2005G>C) c.3403G>C (p.Ala1135Pro) c.3385G>C (p.Ala1129Pro)
22	g.50721239G=	CA2411008110	SHANK3	c.3007G= (p.Ala1003=) n.3591G= c.2059G= (p.Ala687=) c.1549G= (p.Ala517=) c.2005G= (n.2005G=) c.3403G= (p.Ala1135=) c.3385G= (p.Ala1129=)
22	g.50721239G>T	CA515261538	SHANK3	c.3007G>T (p.Ala1003Ser) n.3591G>T c.2059G>T (p.Ala687Ser) c.1549G>T (p.Ala517Ser) c.2005G>T (n.2005G>T) c.3403G>T (p.Ala1135Ser) c.3385G>T (p.Ala1129Ser)
22	g.50721240C>A	CA515261539	SHANK3	c.3008C>A (p.Ala1003Asp) n.3592C>A c.2060C>A (p.Ala687Asp) c.1550C>A (p.Ala517Asp) c.2006C>A (n.2006C>A) c.3404C>A (p.Ala1135Asp) c.3386C>A (p.Ala1129Asp)	gnomAD v4
22	g.50721240C=	CA2411008111	SHANK3	c.3008C= (p.Ala1003=) n.3592C= c.2060C= (p.Ala687=) c.1550C= (p.Ala517=) c.2006C= (n.2006C=) c.3404C= (p.Ala1135=) c.3386C= (p.Ala1129=)
22	g.50721240C>G	CA515261540	SHANK3	c.3008C>G (p.Ala1003Gly) n.3592C>G c.2060C>G (p.Ala687Gly) c.1550C>G (p.Ala517Gly) c.2006C>G (n.2006C>G) c.3404C>G (p.Ala1135Gly) c.3386C>G (p.Ala1129Gly)	gnomAD v4
22	g.50721240C>T	CA325578829	SHANK3	c.3008C>T (p.Ala1003Val) n.3592C>T c.2060C>T (p.Ala687Val) c.1550C>T (p.Ala517Val) c.2006C>T (n.2006C>T) c.3404C>T (p.Ala1135Val) c.3386C>T (p.Ala1129Val)	dbSNP
22	g.50721241C>A	CA515261541	SHANK3	c.3009C>A (p.Ala1003=) n.3593C>A c.2061C>A (p.Ala687=) c.1551C>A (p.Ala517=) c.2007C>A (n.2007C>A) c.3405C>A (p.Ala1135=) c.3387C>A (p.Ala1129=)	gnomAD v4
22	g.50721241C=	CA2411008112	SHANK3	c.3009C= (p.Ala1003=) n.3593C= c.2061C= (p.Ala687=) c.1551C= (p.Ala517=) c.2007C= (n.2007C=) c.3405C= (p.Ala1135=) c.3387C= (p.Ala1129=)
22	g.50721241C>G	CA515261542	SHANK3	c.3009C>G (p.Ala1003=) n.3593C>G c.2061C>G (p.Ala687=) c.1551C>G (p.Ala517=) c.2007C>G (n.2007C>G) c.3405C>G (p.Ala1135=) c.3387C>G (p.Ala1129=)
22	g.50721241C>T	CA10326021	SHANK3	c.3009C>T (p.Ala1003=) n.3593C>T c.2061C>T (p.Ala687=) c.1551C>T (p.Ala517=) c.2007C>T (n.2007C>T) c.3405C>T (p.Ala1135=) c.3387C>T (p.Ala1129=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721242G>A	CA515261545	SHANK3	c.3010G>A (p.Asp1004Asn) n.3594G>A c.2062G>A (p.Asp688Asn) c.1552G>A (p.Asp518Asn) c.2008G>A (n.2008G>A) c.3406G>A (p.Asp1136Asn) c.3388G>A (p.Asp1130Asn)	dbSNP gnomAD v2 gnomAD v4
22	g.50721242G>C	CA515261544	SHANK3	c.3010G>C (p.Asp1004His) n.3594G>C c.2062G>C (p.Asp688His) c.1552G>C (p.Asp518His) c.2008G>C (n.2008G>C) c.3406G>C (p.Asp1136His) c.3388G>C (p.Asp1130His)
22	g.50721242G=	CA2411008113	SHANK3	c.3010G= (p.Asp1004=) n.3594G= c.2062G= (p.Asp688=) c.1552G= (p.Asp518=) c.2008G= (n.2008G=) c.3406G= (p.Asp1136=) c.3388G= (p.Asp1130=)
22	g.50721242G>T	CA515261543	SHANK3	c.3010G>T (p.Asp1004Tyr) n.3594G>T c.2062G>T (p.Asp688Tyr) c.1552G>T (p.Asp518Tyr) c.2008G>T (n.2008G>T) c.3406G>T (p.Asp1136Tyr) c.3388G>T (p.Asp1130Tyr)	dbSNP gnomAD v2
22	g.50721243A>C	CA515261546	SHANK3	c.3011A>C (p.Asp1004Ala) n.3595A>C c.2063A>C (p.Asp688Ala) c.1553A>C (p.Asp518Ala) c.2009A>C (n.2009A>C) c.3407A>C (p.Asp1136Ala) c.3389A>C (p.Asp1130Ala)
22	g.50721243A>G	CA515261548	SHANK3	c.3011A>G (p.Asp1004Gly) n.3595A>G c.2063A>G (p.Asp688Gly) c.1553A>G (p.Asp518Gly) c.2009A>G (n.2009A>G) c.3407A>G (p.Asp1136Gly) c.3389A>G (p.Asp1130Gly)
22	g.50721243A>T	CA515261547	SHANK3	c.3011A>T (p.Asp1004Val) n.3595A>T c.2063A>T (p.Asp688Val) c.1553A>T (p.Asp518Val) c.2009A>T (n.2009A>T) c.3407A>T (p.Asp1136Val) c.3389A>T (p.Asp1130Val)
22	g.50721243dup	CA2580099986	SHANK3	c.3011dup (p.Asp1004GlufsTer?) n.3595dup c.2063dup (p.Asp688GlufsTer?) c.1553dup (p.Asp518GlufsTer?) c.2009dup (n.2009dup) c.3407dup (p.Asp1136GlufsTer?) c.3389dup (p.Asp1130GlufsTer?)	ClinVar
22	g.50721244C>A	CA515261549	SHANK3	c.3012C>A (p.Asp1004Glu) n.3596C>A c.2064C>A (p.Asp688Glu) c.1554C>A (p.Asp518Glu) c.2010C>A (n.2010C>A) c.3408C>A (p.Asp1136Glu) c.3390C>A (p.Asp1130Glu)
22	g.50721244C>G	CA515261550	SHANK3	c.3012C>G (p.Asp1004Glu) n.3596C>G c.2064C>G (p.Asp688Glu) c.1554C>G (p.Asp518Glu) c.2010C>G (n.2010C>G) c.3408C>G (p.Asp1136Glu) c.3390C>G (p.Asp1130Glu)	ClinVar dbSNP gnomAD v4
22	g.50721244C>T	CA515261551	SHANK3	c.3012C>T (p.Asp1004=) n.3596C>T c.2064C>T (p.Asp688=) c.1554C>T (p.Asp518=) c.2010C>T (n.2010C>T) c.3408C>T (p.Asp1136=) c.3390C>T (p.Asp1130=)	gnomAD v4
22	g.50721245C>A	CA515261552	SHANK3	c.3013C>A (p.Arg1005Ser) n.3597C>A c.2065C>A (p.Arg689Ser) c.1555C>A (p.Arg519Ser) c.2011C>A (n.2011C>A) c.3409C>A (p.Arg1137Ser) c.3391C>A (p.Arg1131Ser)	dbSNP gnomAD v4
22	g.50721245C=	CA2411008114	SHANK3	c.3013C= (p.Arg1005=) n.3597C= c.2065C= (p.Arg689=) c.1555C= (p.Arg519=) c.2011C= (n.2011C=) c.3409C= (p.Arg1137=) c.3391C= (p.Arg1131=)
22	g.50721245C>G	CA515261553	SHANK3	c.3013C>G (p.Arg1005Gly) n.3597C>G c.2065C>G (p.Arg689Gly) c.1555C>G (p.Arg519Gly) c.2011C>G (n.2011C>G) c.3409C>G (p.Arg1137Gly) c.3391C>G (p.Arg1131Gly)	dbSNP
22	g.50721245C>T	CA10326022	SHANK3	c.3013C>T (p.Arg1005Cys) n.3597C>T c.2065C>T (p.Arg689Cys) c.1555C>T (p.Arg519Cys) c.2011C>T (n.2011C>T) c.3409C>T (p.Arg1137Cys) c.3391C>T (p.Arg1131Cys)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
22	g.50721246G>A	CA10326023	SHANK3	c.3014G>A (p.Arg1005His) n.3598G>A c.2066G>A (p.Arg689His) c.1556G>A (p.Arg519His) c.2012G>A (n.2012G>A) c.3410G>A (p.Arg1137His) c.3392G>A (p.Arg1131His)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721246G>C	CA515261554	SHANK3	c.3014G>C (p.Arg1005Pro) n.3598G>C c.2066G>C (p.Arg689Pro) c.1556G>C (p.Arg519Pro) c.2012G>C (n.2012G>C) c.3410G>C (p.Arg1137Pro) c.3392G>C (p.Arg1131Pro)
22	g.50721246G=	CA2411008115	SHANK3	c.3014G= (p.Arg1005=) n.3598G= c.2066G= (p.Arg689=) c.1556G= (p.Arg519=) c.2012G= (n.2012G=) c.3410G= (p.Arg1137=) c.3392G= (p.Arg1131=)
22	g.50721246G>T	CA515261555	SHANK3	c.3014G>T (p.Arg1005Leu) n.3598G>T c.2066G>T (p.Arg689Leu) c.1556G>T (p.Arg519Leu) c.2012G>T (n.2012G>T) c.3410G>T (p.Arg1137Leu) c.3392G>T (p.Arg1131Leu)	gnomAD v4
22	g.50721247C>A	CA515261556	SHANK3	c.3015C>A (p.Arg1005=) n.3599C>A c.2067C>A (p.Arg689=) c.1557C>A (p.Arg519=) c.2013C>A (n.2013C>A) c.3411C>A (p.Arg1137=) c.3393C>A (p.Arg1131=)	gnomAD v4
22	g.50721247C=	CA2411008116	SHANK3	c.3015C= (p.Arg1005=) n.3599C= c.2067C= (p.Arg689=) c.1557C= (p.Arg519=) c.2013C= (n.2013C=) c.3411C= (p.Arg1137=) c.3393C= (p.Arg1131=)
22	g.50721247C>G	CA515261557	SHANK3	c.3015C>G (p.Arg1005=) n.3599C>G c.2067C>G (p.Arg689=) c.1557C>G (p.Arg519=) c.2013C>G (n.2013C>G) c.3411C>G (p.Arg1137=) c.3393C>G (p.Arg1131=)
22	g.50721247C>T	CA515261558	SHANK3	c.3015C>T (p.Arg1005=) n.3599C>T c.2067C>T (p.Arg689=) c.1557C>T (p.Arg519=) c.2013C>T (n.2013C>T) c.3411C>T (p.Arg1137=) c.3393C>T (p.Arg1131=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721248C>A	CA515261559	SHANK3	c.3016C>A (p.Pro1006Thr) n.3600C>A c.2068C>A (p.Pro690Thr) c.1558C>A (p.Pro520Thr) c.2014C>A (n.2014C>A) c.3412C>A (p.Pro1138Thr) c.3394C>A (p.Pro1132Thr)	gnomAD v4
22	g.50721248C>G	CA515261561	SHANK3	c.3016C>G (p.Pro1006Ala) n.3600C>G c.2068C>G (p.Pro690Ala) c.1558C>G (p.Pro520Ala) c.2014C>G (n.2014C>G) c.3412C>G (p.Pro1138Ala) c.3394C>G (p.Pro1132Ala)
22	g.50721248C>T	CA515261560	SHANK3	c.3016C>T (p.Pro1006Ser) n.3600C>T c.2068C>T (p.Pro690Ser) c.1558C>T (p.Pro520Ser) c.2014C>T (n.2014C>T) c.3412C>T (p.Pro1138Ser) c.3394C>T (p.Pro1132Ser)	gnomAD v4
22	g.50721249C>A	CA515261562	SHANK3	c.3017C>A (p.Pro1006His) n.3601C>A c.2069C>A (p.Pro690His) c.1559C>A (p.Pro520His) c.2015C>A (n.2015C>A) c.3413C>A (p.Pro1138His) c.3395C>A (p.Pro1132His)
22	g.50721249C=	CA2411008117	SHANK3	c.3017C= (p.Pro1006=) n.3601C= c.2069C= (p.Pro690=) c.1559C= (p.Pro520=) c.2015C= (n.2015C=) c.3413C= (p.Pro1138=) c.3395C= (p.Pro1132=)
22	g.50721249C>G	CA515261563	SHANK3	c.3017C>G (p.Pro1006Arg) n.3601C>G c.2069C>G (p.Pro690Arg) c.1559C>G (p.Pro520Arg) c.2015C>G (n.2015C>G) c.3413C>G (p.Pro1138Arg) c.3395C>G (p.Pro1132Arg)	dbSNP
22	g.50721249C>T	CA10326024	SHANK3	c.3017C>T (p.Pro1006Leu) n.3601C>T c.2069C>T (p.Pro690Leu) c.1559C>T (p.Pro520Leu) c.2015C>T (n.2015C>T) c.3413C>T (p.Pro1138Leu) c.3395C>T (p.Pro1132Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721250C>A	CA515261564	SHANK3	c.3018C>A (p.Pro1006=) n.3602C>A c.2070C>A (p.Pro690=) c.1560C>A (p.Pro520=) c.2016C>A (n.2016C>A) c.3414C>A (p.Pro1138=) c.3396C>A (p.Pro1132=)	gnomAD v4
22	g.50721250C=	CA2411008118	SHANK3	c.3018C= (p.Pro1006=) n.3602C= c.2070C= (p.Pro690=) c.1560C= (p.Pro520=) c.2016C= (n.2016C=) c.3414C= (p.Pro1138=) c.3396C= (p.Pro1132=)
22	g.50721250C>G	CA325578856	SHANK3	c.3018C>G (p.Pro1006=) n.3602C>G c.2070C>G (p.Pro690=) c.1560C>G (p.Pro520=) c.2016C>G (n.2016C>G) c.3414C>G (p.Pro1138=) c.3396C>G (p.Pro1132=)	dbSNP gnomAD v2
22	g.50721250C>T	CA515261565	SHANK3	c.3018C>T (p.Pro1006=) n.3602C>T c.2070C>T (p.Pro690=) c.1560C>T (p.Pro520=) c.2016C>T (n.2016C>T) c.3414C>T (p.Pro1138=) c.3396C>T (p.Pro1132=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721251G>A	CA10326025	SHANK3	c.3019G>A (p.Gly1007Arg) n.3603G>A c.2071G>A (p.Gly691Arg) c.1561G>A (p.Gly521Arg) c.2017G>A (n.2017G>A) c.3415G>A (p.Gly1139Arg) c.3397G>A (p.Gly1133Arg)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
22	g.50721251G>C	CA515261566	SHANK3	c.3019G>C (p.Gly1007Arg) n.3603G>C c.2071G>C (p.Gly691Arg) c.1561G>C (p.Gly521Arg) c.2017G>C (n.2017G>C) c.3415G>C (p.Gly1139Arg) c.3397G>C (p.Gly1133Arg)
22	g.50721251G=	CA2411008119	SHANK3	c.3019G= (p.Gly1007=) n.3603G= c.2071G= (p.Gly691=) c.1561G= (p.Gly521=) c.2017G= (n.2017G=) c.3415G= (p.Gly1139=) c.3397G= (p.Gly1133=)
22	g.50721251G>T	CA515261567	SHANK3	c.3019G>T (p.Gly1007Ter) n.3603G>T c.2071G>T (p.Gly691Ter) c.1561G>T (p.Gly521Ter) c.2017G>T (n.2017G>T) c.3415G>T (p.Gly1139Ter) c.3397G>T (p.Gly1133Ter)
22	g.50721252G>A	CA10326026	SHANK3	c.3020G>A (p.Gly1007Glu) n.3604G>A c.2072G>A (p.Gly691Glu) c.1562G>A (p.Gly521Glu) c.2018G>A (n.2018G>A) c.3416G>A (p.Gly1139Glu) c.3398G>A (p.Gly1133Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721252G>C	CA515261569	SHANK3	c.3020G>C (p.Gly1007Ala) n.3604G>C c.2072G>C (p.Gly691Ala) c.1562G>C (p.Gly521Ala) c.2018G>C (n.2018G>C) c.3416G>C (p.Gly1139Ala) c.3398G>C (p.Gly1133Ala)	gnomAD v4
22	g.50721252G=	CA2411008120	SHANK3	c.3020G= (p.Gly1007=) n.3604G= c.2072G= (p.Gly691=) c.1562G= (p.Gly521=) c.2018G= (n.2018G=) c.3416G= (p.Gly1139=) c.3398G= (p.Gly1133=)
22	g.50721252G>T	CA515261568	SHANK3	c.3020G>T (p.Gly1007Val) n.3604G>T c.2072G>T (p.Gly691Val) c.1562G>T (p.Gly521Val) c.2018G>T (n.2018G>T) c.3416G>T (p.Gly1139Val) c.3398G>T (p.Gly1133Val)
22	g.50721253A=	CA2411008121	SHANK3	c.3021A= (p.Gly1007=) n.3605A= c.2073A= (p.Gly691=) c.1563A= (p.Gly521=) c.2019A= (n.2019A=) c.3417A= (p.Gly1139=) c.3399A= (p.Gly1133=)
22	g.50721253A>C	CA515261570	SHANK3	c.3021A>C (p.Gly1007=) n.3605A>C c.2073A>C (p.Gly691=) c.1563A>C (p.Gly521=) c.2019A>C (n.2019A>C) c.3417A>C (p.Gly1139=) c.3399A>C (p.Gly1133=)
22	g.50721253A>G	CA325578875	SHANK3	c.3021A>G (p.Gly1007=) n.3605A>G c.2073A>G (p.Gly691=) c.1563A>G (p.Gly521=) c.2019A>G (n.2019A>G) c.3417A>G (p.Gly1139=) c.3399A>G (p.Gly1133=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721253A>T	CA515261571	SHANK3	c.3021A>T (p.Gly1007=) n.3605A>T c.2073A>T (p.Gly691=) c.1563A>T (p.Gly521=) c.2019A>T (n.2019A>T) c.3417A>T (p.Gly1139=) c.3399A>T (p.Gly1133=)
22	g.50721254C>A	CA515261572	SHANK3	c.3022C>A (p.Pro1008Thr) n.3606C>A c.2074C>A (p.Pro692Thr) c.1564C>A (p.Pro522Thr) c.2020C>A (n.2020C>A) c.3418C>A (p.Pro1140Thr) c.3400C>A (p.Pro1134Thr)	gnomAD v4
22	g.50721254C=	CA2411008122	SHANK3	c.3022C= (p.Pro1008=) n.3606C= c.2074C= (p.Pro692=) c.1564C= (p.Pro522=) c.2020C= (n.2020C=) c.3418C= (p.Pro1140=) c.3400C= (p.Pro1134=)
22	g.50721254C>G	CA515261573	SHANK3	c.3022C>G (p.Pro1008Ala) n.3606C>G c.2074C>G (p.Pro692Ala) c.1564C>G (p.Pro522Ala) c.2020C>G (n.2020C>G) c.3418C>G (p.Pro1140Ala) c.3400C>G (p.Pro1134Ala)	ClinVar dbSNP
22	g.50721254C>T	CA515261574	SHANK3	c.3022C>T (p.Pro1008Ser) n.3606C>T c.2074C>T (p.Pro692Ser) c.1564C>T (p.Pro522Ser) c.2020C>T (n.2020C>T) c.3418C>T (p.Pro1140Ser) c.3400C>T (p.Pro1134Ser)	gnomAD v4
22	g.50721255C>A	CA515261575	SHANK3	c.3023C>A (p.Pro1008His) n.3607C>A c.2075C>A (p.Pro692His) c.1565C>A (p.Pro522His) c.2021C>A (n.2021C>A) c.3419C>A (p.Pro1140His) c.3401C>A (p.Pro1134His)
22	g.50721255C=	CA2411008123	SHANK3	c.3023C= (p.Pro1008=) n.3607C= c.2075C= (p.Pro692=) c.1565C= (p.Pro522=) c.2021C= (n.2021C=) c.3419C= (p.Pro1140=) c.3401C= (p.Pro1134=)
22	g.50721255C>G	CA515261576	SHANK3	c.3023C>G (p.Pro1008Arg) n.3607C>G c.2075C>G (p.Pro692Arg) c.1565C>G (p.Pro522Arg) c.2021C>G (n.2021C>G) c.3419C>G (p.Pro1140Arg) c.3401C>G (p.Pro1134Arg)	dbSNP gnomAD v2 gnomAD v4
22	g.50721255C>T	CA515261577	SHANK3	c.3023C>T (p.Pro1008Leu) n.3607C>T c.2075C>T (p.Pro692Leu) c.1565C>T (p.Pro522Leu) c.2021C>T (n.2021C>T) c.3419C>T (p.Pro1140Leu) c.3401C>T (p.Pro1134Leu)	dbSNP gnomAD v4
22	g.50721256C>A	CA515261578	SHANK3	c.3024C>A (p.Pro1008=) n.3608C>A c.2076C>A (p.Pro692=) c.1566C>A (p.Pro522=) c.2022C>A (n.2022C>A) c.3420C>A (p.Pro1140=) c.3402C>A (p.Pro1134=)
22	g.50721256C=	CA2411008125	SHANK3	c.3024C= (p.Pro1008=) n.3608C= c.2076C= (p.Pro692=) c.1566C= (p.Pro522=) c.2022C= (n.2022C=) c.3420C= (p.Pro1140=) c.3402C= (p.Pro1134=)
22	g.50721256C>G	CA515261579	SHANK3	c.3024C>G (p.Pro1008=) n.3608C>G c.2076C>G (p.Pro692=) c.1566C>G (p.Pro522=) c.2022C>G (n.2022C>G) c.3420C>G (p.Pro1140=) c.3402C>G (p.Pro1134=)	dbSNP gnomAD v4
22	g.50721256C>T	CA515261580	SHANK3	c.3024C>T (p.Pro1008=) n.3608C>T c.2076C>T (p.Pro692=) c.1566C>T (p.Pro522=) c.2022C>T (n.2022C>T) c.3420C>T (p.Pro1140=) c.3402C>T (p.Pro1134=)	ClinVar gnomAD v4
22	g.50721256_50721258delinsCCT	CA2411008124	SHANK3	c.3024_3026delinsCCT (p.Pro1008=) n.3608_3610delinsCCT c.2076_2078delinsCCT (p.Pro692=) c.1566_1568delinsCCT (p.Pro522=) c.2022_2024delinsCCT (n.2022_2024delinsCCT) c.3420_3422delinsCCT (p.Pro1140=) c.3402_3404delinsCCT (p.Pro1134=)
22	g.50721257C>A	CA515261583	SHANK3	c.3025C>A (p.Leu1009Met) n.3609C>A c.2077C>A (p.Leu693Met) c.1567C>A (p.Leu523Met) c.2023C>A (n.2023C>A) c.3421C>A (p.Leu1141Met) c.3403C>A (p.Leu1135Met)
22	g.50721257C=	CA2411008126	SHANK3	c.3025C= (p.Leu1009=) n.3609C= c.2077C= (p.Leu693=) c.1567C= (p.Leu523=) c.2023C= (n.2023C=) c.3421C= (p.Leu1141=) c.3403C= (p.Leu1135=)
22	g.50721257C>G	CA515261582	SHANK3	c.3025C>G (p.Leu1009Val) n.3609C>G c.2077C>G (p.Leu693Val) c.1567C>G (p.Leu523Val) c.2023C>G (n.2023C>G) c.3421C>G (p.Leu1141Val) c.3403C>G (p.Leu1135Val)
22	g.50721257C>T	CA515261581	SHANK3	c.3025C>T (p.Leu1009=) n.3609C>T c.2077C>T (p.Leu693=) c.1567C>T (p.Leu523=) c.2023C>T (n.2023C>T) c.3421C>T (p.Leu1141=) c.3403C>T (p.Leu1135=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721257_50721258del	CA16043254	SHANK3	c.3025_3026del (p.Leu1009ValfsTer?) n.3609_3610del c.2077_2078del (p.Leu693ValfsTer?) c.1567_1568del (p.Leu523ValfsTer?) c.2023_2024del (n.2023_2024del) c.3421_3422del (p.Leu1141ValfsTer?) c.3403_3404del (p.Leu1135ValfsTer?)	ClinVar dbSNP
22	g.50721258T>A	CA515261584	SHANK3	c.3026T>A (p.Leu1009Gln) n.3610T>A c.2078T>A (p.Leu693Gln) c.1568T>A (p.Leu523Gln) c.2024T>A (n.2024T>A) c.3422T>A (p.Leu1141Gln) c.3404T>A (p.Leu1135Gln)
22	g.50721258T>C	CA515261585	SHANK3	c.3026T>C (p.Leu1009Pro) n.3610T>C c.2078T>C (p.Leu693Pro) c.1568T>C (p.Leu523Pro) c.2024T>C (n.2024T>C) c.3422T>C (p.Leu1141Pro) c.3404T>C (p.Leu1135Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50721258T>G	CA10326027	SHANK3	c.3026T>G (p.Leu1009Arg) n.3610T>G c.2078T>G (p.Leu693Arg) c.1568T>G (p.Leu523Arg) c.2024T>G (n.2024T>G) c.3422T>G (p.Leu1141Arg) c.3404T>G (p.Leu1135Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721258T=	CA2411008127	SHANK3	c.3026T= (p.Leu1009=) n.3610T= c.2078T= (p.Leu693=) c.1568T= (p.Leu523=) c.2024T= (n.2024T=) c.3422T= (p.Leu1141=) c.3404T= (p.Leu1135=)
22	g.50721259G>A	CA10326028	SHANK3	c.3027G>A (p.Leu1009=) n.3611G>A c.2079G>A (p.Leu693=) c.1569G>A (p.Leu523=) c.2025G>A (n.2025G>A) c.3423G>A (p.Leu1141=) c.3405G>A (p.Leu1135=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721259G>C	CA515261586	SHANK3	c.3027G>C (p.Leu1009=) n.3611G>C c.2079G>C (p.Leu693=) c.1569G>C (p.Leu523=) c.2025G>C (n.2025G>C) c.3423G>C (p.Leu1141=) c.3405G>C (p.Leu1135=)
22	g.50721259G=	CA2411008128	SHANK3	c.3027G= (p.Leu1009=) n.3611G= c.2079G= (p.Leu693=) c.1569G= (p.Leu523=) c.2025G= (n.2025G=) c.3423G= (p.Leu1141=) c.3405G= (p.Leu1135=)
22	g.50721259G>T	CA515261587	SHANK3	c.3027G>T (p.Leu1009=) n.3611G>T c.2079G>T (p.Leu693=) c.1569G>T (p.Leu523=) c.2025G>T (n.2025G>T) c.3423G>T (p.Leu1141=) c.3405G>T (p.Leu1135=)
22	g.50721260T>A	CA515261588	SHANK3	c.3028T>A (p.Phe1010Ile) n.3612T>A c.2080T>A (p.Phe694Ile) c.1570T>A (p.Phe524Ile) c.2026T>A (n.2026T>A) c.3424T>A (p.Phe1142Ile) c.3406T>A (p.Phe1136Ile)
22	g.50721260T>C	CA10326029	SHANK3	c.3028T>C (p.Phe1010Leu) n.3612T>C c.2080T>C (p.Phe694Leu) c.1570T>C (p.Phe524Leu) c.2026T>C (n.2026T>C) c.3424T>C (p.Phe1142Leu) c.3406T>C (p.Phe1136Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721260T>G	CA515261589	SHANK3	c.3028T>G (p.Phe1010Val) n.3612T>G c.2080T>G (p.Phe694Val) c.1570T>G (p.Phe524Val) c.2026T>G (n.2026T>G) c.3424T>G (p.Phe1142Val) c.3406T>G (p.Phe1136Val)
22	g.50721260T=	CA2411008129	SHANK3	c.3028T= (p.Phe1010=) n.3612T= c.2080T= (p.Phe694=) c.1570T= (p.Phe524=) c.2026T= (n.2026T=) c.3424T= (p.Phe1142=) c.3406T= (p.Phe1136=)
22	g.50721261T>A	CA515261590	SHANK3	c.3029T>A (p.Phe1010Tyr) n.3613T>A c.2081T>A (p.Phe694Tyr) c.1571T>A (p.Phe524Tyr) c.2027T>A (n.2027T>A) c.3425T>A (p.Phe1142Tyr) c.3407T>A (p.Phe1136Tyr)
22	g.50721261T>C	CA515261591	SHANK3	c.3029T>C (p.Phe1010Ser) n.3613T>C c.2081T>C (p.Phe694Ser) c.1571T>C (p.Phe524Ser) c.2027T>C (n.2027T>C) c.3425T>C (p.Phe1142Ser) c.3407T>C (p.Phe1136Ser)
22	g.50721261T>G	CA515261592	SHANK3	c.3029T>G (p.Phe1010Cys) n.3613T>G c.2081T>G (p.Phe694Cys) c.1571T>G (p.Phe524Cys) c.2027T>G (n.2027T>G) c.3425T>G (p.Phe1142Cys) c.3407T>G (p.Phe1136Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721261T=	CA2411008130	SHANK3	c.3029T= (p.Phe1010=) n.3613T= c.2081T= (p.Phe694=) c.1571T= (p.Phe524=) c.2027T= (n.2027T=) c.3425T= (p.Phe1142=) c.3407T= (p.Phe1136=)
22	g.50721262T>A	CA515261595	SHANK3	c.3030T>A (p.Phe1010Leu) n.3614T>A c.2082T>A (p.Phe694Leu) c.1572T>A (p.Phe524Leu) c.2028T>A (n.2028T>A) c.3426T>A (p.Phe1142Leu) c.3408T>A (p.Phe1136Leu)
22	g.50721262T>C	CA515261594	SHANK3	c.3030T>C (p.Phe1010=) n.3614T>C c.2082T>C (p.Phe694=) c.1572T>C (p.Phe524=) c.2028T>C (n.2028T>C) c.3426T>C (p.Phe1142=) c.3408T>C (p.Phe1136=)	COSMIC COSMIC
22	g.50721262T>G	CA515261593	SHANK3	c.3030T>G (p.Phe1010Leu) n.3614T>G c.2082T>G (p.Phe694Leu) c.1572T>G (p.Phe524Leu) c.2028T>G (n.2028T>G) c.3426T>G (p.Phe1142Leu) c.3408T>G (p.Phe1136Leu)
22	g.50721263G>A	CA515261596	SHANK3	c.3031G>A (p.Val1011Met) n.3615G>A c.2083G>A (p.Val695Met) c.1573G>A (p.Val525Met) c.2029G>A (n.2029G>A) c.3427G>A (p.Val1143Met) c.3409G>A (p.Val1137Met)
22	g.50721263G>C	CA515261598	SHANK3	c.3031G>C (p.Val1011Leu) n.3615G>C c.2083G>C (p.Val695Leu) c.1573G>C (p.Val525Leu) c.2029G>C (n.2029G>C) c.3427G>C (p.Val1143Leu) c.3409G>C (p.Val1137Leu)
22	g.50721263G>T	CA515261597	SHANK3	c.3031G>T (p.Val1011Leu) n.3615G>T c.2083G>T (p.Val695Leu) c.1573G>T (p.Val525Leu) c.2029G>T (n.2029G>T) c.3427G>T (p.Val1143Leu) c.3409G>T (p.Val1137Leu)
22	g.50721264T>A	CA515261599	SHANK3	c.3032T>A (p.Val1011Glu) n.3616T>A c.2084T>A (p.Val695Glu) c.1574T>A (p.Val525Glu) c.2030T>A (n.2030T>A) c.3428T>A (p.Val1143Glu) c.3410T>A (p.Val1137Glu)
22	g.50721264T>C	CA515261600	SHANK3	c.3032T>C (p.Val1011Ala) n.3616T>C c.2084T>C (p.Val695Ala) c.1574T>C (p.Val525Ala) c.2030T>C (n.2030T>C) c.3428T>C (p.Val1143Ala) c.3410T>C (p.Val1137Ala)	ClinVar gnomAD v4
22	g.50721264T>G	CA325578888	SHANK3	c.3032T>G (p.Val1011Gly) n.3616T>G c.2084T>G (p.Val695Gly) c.1574T>G (p.Val525Gly) c.2030T>G (n.2030T>G) c.3428T>G (p.Val1143Gly) c.3410T>G (p.Val1137Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721264T=	CA2411008131	SHANK3	c.3032T= (p.Val1011=) n.3616T= c.2084T= (p.Val695=) c.1574T= (p.Val525=) c.2030T= (n.2030T=) c.3428T= (p.Val1143=) c.3410T= (p.Val1137=)
22	g.50721265G>A	CA515261601	SHANK3	c.3033G>A (p.Val1011=) n.3617G>A c.2085G>A (p.Val695=) c.1575G>A (p.Val525=) c.2031G>A (n.2031G>A) c.3429G>A (p.Val1143=) c.3411G>A (p.Val1137=)
22	g.50721265G>C	CA515261602	SHANK3	c.3033G>C (p.Val1011=) n.3617G>C c.2085G>C (p.Val695=) c.1575G>C (p.Val525=) c.2031G>C (n.2031G>C) c.3429G>C (p.Val1143=) c.3411G>C (p.Val1137=)
22	g.50721265G>T	CA515261603	SHANK3	c.3033G>T (p.Val1011=) n.3617G>T c.2085G>T (p.Val695=) c.1575G>T (p.Val525=) c.2031G>T (n.2031G>T) c.3429G>T (p.Val1143=) c.3411G>T (p.Val1137=)
22	g.50721266G>A	CA10326030	SHANK3	c.3034G>A (p.Asp1012Asn) n.3618G>A c.2086G>A (p.Asp696Asn) c.1576G>A (p.Asp526Asn) c.2032G>A (n.2032G>A) c.3430G>A (p.Asp1144Asn) c.3412G>A (p.Asp1138Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721266G>C	CA325578910	SHANK3	c.3034G>C (p.Asp1012His) n.3618G>C c.2086G>C (p.Asp696His) c.1576G>C (p.Asp526His) c.2032G>C (n.2032G>C) c.3430G>C (p.Asp1144His) c.3412G>C (p.Asp1138His)	dbSNP
22	g.50721266G=	CA2411008132	SHANK3	c.3034G= (p.Asp1012=) n.3618G= c.2086G= (p.Asp696=) c.1576G= (p.Asp526=) c.2032G= (n.2032G=) c.3430G= (p.Asp1144=) c.3412G= (p.Asp1138=)
22	g.50721266G>T	CA515261604	SHANK3	c.3034G>T (p.Asp1012Tyr) n.3618G>T c.2086G>T (p.Asp696Tyr) c.1576G>T (p.Asp526Tyr) c.2032G>T (n.2032G>T) c.3430G>T (p.Asp1144Tyr) c.3412G>T (p.Asp1138Tyr)
22	g.50721267A>C	CA515261605	SHANK3	c.3035A>C (p.Asp1012Ala) n.3619A>C c.2087A>C (p.Asp696Ala) c.1577A>C (p.Asp526Ala) c.2033A>C (n.2033A>C) c.3431A>C (p.Asp1144Ala) c.3413A>C (p.Asp1138Ala)
22	g.50721267A>G	CA515261606	SHANK3	c.3035A>G (p.Asp1012Gly) n.3619A>G c.2087A>G (p.Asp696Gly) c.1577A>G (p.Asp526Gly) c.2033A>G (n.2033A>G) c.3431A>G (p.Asp1144Gly) c.3413A>G (p.Asp1138Gly)
22	g.50721267A>T	CA515261607	SHANK3	c.3035A>T (p.Asp1012Val) n.3619A>T c.2087A>T (p.Asp696Val) c.1577A>T (p.Asp526Val) c.2033A>T (n.2033A>T) c.3431A>T (p.Asp1144Val) c.3413A>T (p.Asp1138Val)
22	g.50721268T>A	CA515261608	SHANK3	c.3036T>A (p.Asp1012Glu) n.3620T>A c.2088T>A (p.Asp696Glu) c.1578T>A (p.Asp526Glu) c.2034T>A (n.2034T>A) c.3432T>A (p.Asp1144Glu) c.3414T>A (p.Asp1138Glu)
22	g.50721268T>C	CA515261609	SHANK3	c.3036T>C (p.Asp1012=) n.3620T>C c.2088T>C (p.Asp696=) c.1578T>C (p.Asp526=) c.2034T>C (n.2034T>C) c.3432T>C (p.Asp1144=) c.3414T>C (p.Asp1138=)	COSMIC COSMIC
22	g.50721268T>G	CA515261610	SHANK3	c.3036T>G (p.Asp1012Glu) n.3620T>G c.2088T>G (p.Asp696Glu) c.1578T>G (p.Asp526Glu) c.2034T>G (n.2034T>G) c.3432T>G (p.Asp1144Glu) c.3414T>G (p.Asp1138Glu)	dbSNP
22	g.50721268T=	CA2411008133	SHANK3	c.3036T= (p.Asp1012=) n.3620T= c.2088T= (p.Asp696=) c.1578T= (p.Asp526=) c.2034T= (n.2034T=) c.3432T= (p.Asp1144=) c.3414T= (p.Asp1138=)
22	g.50721269G>A	CA515261611	SHANK3	c.3037G>A (p.Val1013Ile) n.3621G>A c.2089G>A (p.Val697Ile) c.1579G>A (p.Val527Ile) c.2035G>A (n.2035G>A) c.3433G>A (p.Val1145Ile) c.3415G>A (p.Val1139Ile)	ClinVar dbSNP gnomAD v4
22	g.50721269G>C	CA515261613	SHANK3	c.3037G>C (p.Val1013Leu) n.3621G>C c.2089G>C (p.Val697Leu) c.1579G>C (p.Val527Leu) c.2035G>C (n.2035G>C) c.3433G>C (p.Val1145Leu) c.3415G>C (p.Val1139Leu)
22	g.50721269G>T	CA515261612	SHANK3	c.3037G>T (p.Val1013Leu) n.3621G>T c.2089G>T (p.Val697Leu) c.1579G>T (p.Val527Leu) c.2035G>T (n.2035G>T) c.3433G>T (p.Val1145Leu) c.3415G>T (p.Val1139Leu)	gnomAD v4
22	g.50721270T>A	CA515261614	SHANK3	c.3038T>A (p.Val1013Glu) n.3622T>A c.2090T>A (p.Val697Glu) c.1580T>A (p.Val527Glu) c.2036T>A (n.2036T>A) c.3434T>A (p.Val1145Glu) c.3416T>A (p.Val1139Glu)
22	g.50721270T>C	CA515261615	SHANK3	c.3038T>C (p.Val1013Ala) n.3622T>C c.2090T>C (p.Val697Ala) c.1580T>C (p.Val527Ala) c.2036T>C (n.2036T>C) c.3434T>C (p.Val1145Ala) c.3416T>C (p.Val1139Ala)	gnomAD v4
22	g.50721270T>G	CA515261616	SHANK3	c.3038T>G (p.Val1013Gly) n.3622T>G c.2090T>G (p.Val697Gly) c.1580T>G (p.Val527Gly) c.2036T>G (n.2036T>G) c.3434T>G (p.Val1145Gly) c.3416T>G (p.Val1139Gly)

Number of alleles fetched