Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50721461A>C	CA515262500	SHANK3	c.3229A>C (p.Ile1077Leu) n.3813A>C c.2281A>C (p.Ile761Leu) c.1771A>C (p.Ile591Leu) c.2227A>C (n.2227A>C) c.3625A>C (p.Ile1209Leu) c.3607A>C (p.Ile1203Leu)
22	g.50721461A>G	CA515262501	SHANK3	c.3229A>G (p.Ile1077Val) n.3813A>G c.2281A>G (p.Ile761Val) c.1771A>G (p.Ile591Val) c.2227A>G (n.2227A>G) c.3625A>G (p.Ile1209Val) c.3607A>G (p.Ile1203Val)
22	g.50721461A>T	CA515262502	SHANK3	c.3229A>T (p.Ile1077Phe) n.3813A>T c.2281A>T (p.Ile761Phe) c.1771A>T (p.Ile591Phe) c.2227A>T (n.2227A>T) c.3625A>T (p.Ile1209Phe) c.3607A>T (p.Ile1203Phe)
22	g.50721462T>A	CA515262503	SHANK3	c.3230T>A (p.Ile1077Asn) n.3814T>A c.2282T>A (p.Ile761Asn) c.1772T>A (p.Ile591Asn) c.2228T>A (n.2228T>A) c.3626T>A (p.Ile1209Asn) c.3608T>A (p.Ile1203Asn)
22	g.50721462T>C	CA515262504	SHANK3	c.3230T>C (p.Ile1077Thr) n.3814T>C c.2282T>C (p.Ile761Thr) c.1772T>C (p.Ile591Thr) c.2228T>C (n.2228T>C) c.3626T>C (p.Ile1209Thr) c.3608T>C (p.Ile1203Thr)	dbSNP gnomAD v3 gnomAD v4
22	g.50721462T>G	CA515262505	SHANK3	c.3230T>G (p.Ile1077Ser) n.3814T>G c.2282T>G (p.Ile761Ser) c.1772T>G (p.Ile591Ser) c.2228T>G (n.2228T>G) c.3626T>G (p.Ile1209Ser) c.3608T>G (p.Ile1203Ser)
22	g.50721462T=	CA2411008255	SHANK3	c.3230T= (p.Ile1077=) n.3814T= c.2282T= (p.Ile761=) c.1772T= (p.Ile591=) c.2228T= (n.2228T=) c.3626T= (p.Ile1209=) c.3608T= (p.Ile1203=)
22	g.50721463C>A	CA515262506	SHANK3	c.3231C>A (p.Ile1077=) n.3815C>A c.2283C>A (p.Ile761=) c.1773C>A (p.Ile591=) c.2229C>A (n.2229C>A) c.3627C>A (p.Ile1209=) c.3609C>A (p.Ile1203=)	gnomAD v4
22	g.50721463C=	CA2411008256	SHANK3	c.3231C= (p.Ile1077=) n.3815C= c.2283C= (p.Ile761=) c.1773C= (p.Ile591=) c.2229C= (n.2229C=) c.3627C= (p.Ile1209=) c.3609C= (p.Ile1203=)
22	g.50721463C>G	CA515262507	SHANK3	c.3231C>G (p.Ile1077Met) n.3815C>G c.2283C>G (p.Ile761Met) c.1773C>G (p.Ile591Met) c.2229C>G (n.2229C>G) c.3627C>G (p.Ile1209Met) c.3609C>G (p.Ile1203Met)
22	g.50721463C>T	CA10326089	SHANK3	c.3231C>T (p.Ile1077=) n.3815C>T c.2283C>T (p.Ile761=) c.1773C>T (p.Ile591=) c.2229C>T (n.2229C>T) c.3627C>T (p.Ile1209=) c.3609C>T (p.Ile1203=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721464G>A	CA515262515	SHANK3	c.3232G>A (p.Val1078Ile) n.3816G>A c.2284G>A (p.Val762Ile) c.1774G>A (p.Val592Ile) c.2230G>A (n.2230G>A) c.3628G>A (p.Val1210Ile) c.3610G>A (p.Val1204Ile)	dbSNP gnomAD v2 gnomAD v4
22	g.50721464G>C	CA515262518	SHANK3	c.3232G>C (p.Val1078Leu) n.3816G>C c.2284G>C (p.Val762Leu) c.1774G>C (p.Val592Leu) c.2230G>C (n.2230G>C) c.3628G>C (p.Val1210Leu) c.3610G>C (p.Val1204Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721464G=	CA2411008257	SHANK3	c.3232G= (p.Val1078=) n.3816G= c.2284G= (p.Val762=) c.1774G= (p.Val592=) c.2230G= (n.2230G=) c.3628G= (p.Val1210=) c.3610G= (p.Val1204=)
22	g.50721464G>T	CA515262517	SHANK3	c.3232G>T (p.Val1078Phe) n.3816G>T c.2284G>T (p.Val762Phe) c.1774G>T (p.Val592Phe) c.2230G>T (n.2230G>T) c.3628G>T (p.Val1210Phe) c.3610G>T (p.Val1204Phe)	dbSNP gnomAD v4 COSMIC COSMIC
22	g.50721465T>A	CA515262519	SHANK3	c.3233T>A (p.Val1078Asp) n.3817T>A c.2285T>A (p.Val762Asp) c.1775T>A (p.Val592Asp) c.2231T>A (n.2231T>A) c.3629T>A (p.Val1210Asp) c.3611T>A (p.Val1204Asp)
22	g.50721465T>C	CA515262520	SHANK3	c.3233T>C (p.Val1078Ala) n.3817T>C c.2285T>C (p.Val762Ala) c.1775T>C (p.Val592Ala) c.2231T>C (n.2231T>C) c.3629T>C (p.Val1210Ala) c.3611T>C (p.Val1204Ala)
22	g.50721465T>G	CA515262521	SHANK3	c.3233T>G (p.Val1078Gly) n.3817T>G c.2285T>G (p.Val762Gly) c.1775T>G (p.Val592Gly) c.2231T>G (n.2231T>G) c.3629T>G (p.Val1210Gly) c.3611T>G (p.Val1204Gly)
22	g.50721465T=	CA2411008258	SHANK3	c.3233T= (p.Val1078=) n.3817T= c.2285T= (p.Val762=) c.1775T= (p.Val592=) c.2231T= (n.2231T=) c.3629T= (p.Val1210=) c.3611T= (p.Val1204=)
22	g.50721465_50721466insG	CA1139667207	SHANK3	c.3233_3234insG (p.Val1079CysfsTer?) n.3817_3818insG c.2285_2286insG (p.Val763CysfsTer?) c.1775_1776insG (p.Val593CysfsTer?) c.2231_2232insG (n.2231_2232insG) c.3629_3630insG (p.Val1211CysfsTer?) c.3611_3612insG (p.Val1205CysfsTer?)	ClinVar dbSNP
22	g.50721466T>A	CA515262522	SHANK3	c.3234T>A (p.Val1078=) n.3818T>A c.2286T>A (p.Val762=) c.1776T>A (p.Val592=) c.2232T>A (n.2232T>A) c.3630T>A (p.Val1210=) c.3612T>A (p.Val1204=)
22	g.50721466T>C	CA515262523	SHANK3	c.3234T>C (p.Val1078=) n.3818T>C c.2286T>C (p.Val762=) c.1776T>C (p.Val592=) c.2232T>C (n.2232T>C) c.3630T>C (p.Val1210=) c.3612T>C (p.Val1204=)
22	g.50721466T>G	CA515262527	SHANK3	c.3234T>G (p.Val1078=) n.3818T>G c.2286T>G (p.Val762=) c.1776T>G (p.Val592=) c.2232T>G (n.2232T>G) c.3630T>G (p.Val1210=) c.3612T>G (p.Val1204=)
22	g.50721467G>A	CA515262529	SHANK3	c.3235G>A (p.Val1079Met) n.3819G>A c.2287G>A (p.Val763Met) c.1777G>A (p.Val593Met) c.2233G>A (n.2233G>A) c.3631G>A (p.Val1211Met) c.3613G>A (p.Val1205Met)	gnomAD v4
22	g.50721467G>C	CA515262532	SHANK3	c.3235G>C (p.Val1079Leu) n.3819G>C c.2287G>C (p.Val763Leu) c.1777G>C (p.Val593Leu) c.2233G>C (n.2233G>C) c.3631G>C (p.Val1211Leu) c.3613G>C (p.Val1205Leu)
22	g.50721467G>T	CA515262533	SHANK3	c.3235G>T (p.Val1079Leu) n.3819G>T c.2287G>T (p.Val763Leu) c.1777G>T (p.Val593Leu) c.2233G>T (n.2233G>T) c.3631G>T (p.Val1211Leu) c.3613G>T (p.Val1205Leu)
22	g.50721468T>A	CA515262534	SHANK3	c.3236T>A (p.Val1079Glu) n.3820T>A c.2288T>A (p.Val763Glu) c.1778T>A (p.Val593Glu) c.2234T>A (n.2234T>A) c.3632T>A (p.Val1211Glu) c.3614T>A (p.Val1205Glu)
22	g.50721468T>C	CA515262535	SHANK3	c.3236T>C (p.Val1079Ala) n.3820T>C c.2288T>C (p.Val763Ala) c.1778T>C (p.Val593Ala) c.2234T>C (n.2234T>C) c.3632T>C (p.Val1211Ala) c.3614T>C (p.Val1205Ala)
22	g.50721468T>G	CA515262536	SHANK3	c.3236T>G (p.Val1079Gly) n.3820T>G c.2288T>G (p.Val763Gly) c.1778T>G (p.Val593Gly) c.2234T>G (n.2234T>G) c.3632T>G (p.Val1211Gly) c.3614T>G (p.Val1205Gly)
22	g.50721469G>A	CA515262539	SHANK3	c.3237G>A (p.Val1079=) n.3821G>A c.2289G>A (p.Val763=) c.1779G>A (p.Val593=) c.2235G>A (n.2235G>A) c.3633G>A (p.Val1211=) c.3615G>A (p.Val1205=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721469G>C	CA515262538	SHANK3	c.3237G>C (p.Val1079=) n.3821G>C c.2289G>C (p.Val763=) c.1779G>C (p.Val593=) c.2235G>C (n.2235G>C) c.3633G>C (p.Val1211=) c.3615G>C (p.Val1205=)	gnomAD v4
22	g.50721469G=	CA2411008259	SHANK3	c.3237G= (p.Val1079=) n.3821G= c.2289G= (p.Val763=) c.1779G= (p.Val593=) c.2235G= (n.2235G=) c.3633G= (p.Val1211=) c.3615G= (p.Val1205=)
22	g.50721469G>T	CA515262537	SHANK3	c.3237G>T (p.Val1079=) n.3821G>T c.2289G>T (p.Val763=) c.1779G>T (p.Val593=) c.2235G>T (n.2235G>T) c.3633G>T (p.Val1211=) c.3615G>T (p.Val1205=)
22	g.50721470C>A	CA515262540	SHANK3	c.3238C>A (p.His1080Asn) n.3822C>A c.2290C>A (p.His764Asn) c.1780C>A (p.His594Asn) c.2236C>A (n.2236C>A) c.3634C>A (p.His1212Asn) c.3616C>A (p.His1206Asn)	gnomAD v4
22	g.50721470C=	CA2411008260	SHANK3	c.3238C= (p.His1080=) n.3822C= c.2290C= (p.His764=) c.1780C= (p.His594=) c.2236C= (n.2236C=) c.3634C= (p.His1212=) c.3616C= (p.His1206=)
22	g.50721470C>G	CA515262542	SHANK3	c.3238C>G (p.His1080Asp) n.3822C>G c.2290C>G (p.His764Asp) c.1780C>G (p.His594Asp) c.2236C>G (n.2236C>G) c.3634C>G (p.His1212Asp) c.3616C>G (p.His1206Asp)
22	g.50721470C>T	CA515262545	SHANK3	c.3238C>T (p.His1080Tyr) n.3822C>T c.2290C>T (p.His764Tyr) c.1780C>T (p.His594Tyr) c.2236C>T (n.2236C>T) c.3634C>T (p.His1212Tyr) c.3616C>T (p.His1206Tyr)	dbSNP gnomAD v2 gnomAD v4
22	g.50721470dup	CA16609404	SHANK3	c.3238dup (p.His1080ProfsTer?) n.3822dup c.2290dup (p.His764ProfsTer?) c.1780dup (p.His594ProfsTer?) c.2236dup (n.2236dup) c.3634dup (p.His1212ProfsTer?) c.3616dup (p.His1206ProfsTer?)	ClinVar dbSNP
22	g.50721471A>C	CA515262547	SHANK3	c.3239A>C (p.His1080Pro) n.3823A>C c.2291A>C (p.His764Pro) c.1781A>C (p.His594Pro) c.2237A>C (n.2237A>C) c.3635A>C (p.His1212Pro) c.3617A>C (p.His1206Pro)
22	g.50721471A>G	CA515262549	SHANK3	c.3239A>G (p.His1080Arg) n.3823A>G c.2291A>G (p.His764Arg) c.1781A>G (p.His594Arg) c.2237A>G (n.2237A>G) c.3635A>G (p.His1212Arg) c.3617A>G (p.His1206Arg)	gnomAD v4
22	g.50721471A>T	CA515262550	SHANK3	c.3239A>T (p.His1080Leu) n.3823A>T c.2291A>T (p.His764Leu) c.1781A>T (p.His594Leu) c.2237A>T (n.2237A>T) c.3635A>T (p.His1212Leu) c.3617A>T (p.His1206Leu)
22	g.50721472C>A	CA515262551	SHANK3	c.3240C>A (p.His1080Gln) n.3824C>A c.2292C>A (p.His764Gln) c.1782C>A (p.His594Gln) c.2238C>A (n.2238C>A) c.3636C>A (p.His1212Gln) c.3618C>A (p.His1206Gln)	gnomAD v4
22	g.50721472C=	CA2411008261	SHANK3	c.3240C= (p.His1080=) n.3824C= c.2292C= (p.His764=) c.1782C= (p.His594=) c.2238C= (n.2238C=) c.3636C= (p.His1212=) c.3618C= (p.His1206=)
22	g.50721472C>G	CA515262552	SHANK3	c.3240C>G (p.His1080Gln) n.3824C>G c.2292C>G (p.His764Gln) c.1782C>G (p.His594Gln) c.2238C>G (n.2238C>G) c.3636C>G (p.His1212Gln) c.3618C>G (p.His1206Gln)
22	g.50721472C>T	CA10326090	SHANK3	c.3240C>T (p.His1080=) n.3824C>T c.2292C>T (p.His764=) c.1782C>T (p.His594=) c.2238C>T (n.2238C>T) c.3636C>T (p.His1212=) c.3618C>T (p.His1206=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721473G>A	CA10326091	SHANK3	c.3241G>A (p.Ala1081Thr) n.3825G>A c.2293G>A (p.Ala765Thr) c.1783G>A (p.Ala595Thr) c.2239G>A (n.2239G>A) c.3637G>A (p.Ala1213Thr) c.3619G>A (p.Ala1207Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50721473G>C	CA515262557	SHANK3	c.3241G>C (p.Ala1081Pro) n.3825G>C c.2293G>C (p.Ala765Pro) c.1783G>C (p.Ala595Pro) c.2239G>C (n.2239G>C) c.3637G>C (p.Ala1213Pro) c.3619G>C (p.Ala1207Pro)
22	g.50721473G=	CA2411008262	SHANK3	c.3241G= (p.Ala1081=) n.3825G= c.2293G= (p.Ala765=) c.1783G= (p.Ala595=) c.2239G= (n.2239G=) c.3637G= (p.Ala1213=) c.3619G= (p.Ala1207=)
22	g.50721473G>T	CA515262558	SHANK3	c.3241G>T (p.Ala1081Ser) n.3825G>T c.2293G>T (p.Ala765Ser) c.1783G>T (p.Ala595Ser) c.2239G>T (n.2239G>T) c.3637G>T (p.Ala1213Ser) c.3619G>T (p.Ala1207Ser)	gnomAD v4
22	g.50721473dup	CA2573055035	SHANK3	c.3241dup (p.Ala1081GlyfsTer?) n.3825dup c.2293dup (p.Ala765GlyfsTer?) c.1783dup (p.Ala595GlyfsTer?) c.2239dup (n.2239dup) c.3637dup (p.Ala1213GlyfsTer?) c.3619dup (p.Ala1207GlyfsTer?)	ClinVar dbSNP
22	g.50721474C>A	CA515262559	SHANK3	c.3242C>A (p.Ala1081Asp) n.3826C>A c.2294C>A (p.Ala765Asp) c.1784C>A (p.Ala595Asp) c.2240C>A (n.2240C>A) c.3638C>A (p.Ala1213Asp) c.3620C>A (p.Ala1207Asp)
22	g.50721474C>G	CA515262563	SHANK3	c.3242C>G (p.Ala1081Gly) n.3826C>G c.2294C>G (p.Ala765Gly) c.1784C>G (p.Ala595Gly) c.2240C>G (n.2240C>G) c.3638C>G (p.Ala1213Gly) c.3620C>G (p.Ala1207Gly)
22	g.50721474C>T	CA515262561	SHANK3	c.3242C>T (p.Ala1081Val) n.3826C>T c.2294C>T (p.Ala765Val) c.1784C>T (p.Ala595Val) c.2240C>T (n.2240C>T) c.3638C>T (p.Ala1213Val) c.3620C>T (p.Ala1207Val)	gnomAD v4
22	g.50721475dup	CA1139667208	SHANK3	c.3243dup (p.Thr1082HisfsTer?) n.3827dup c.2295dup (p.Thr766HisfsTer?) c.1785dup (p.Thr596HisfsTer?) c.2241dup (n.2241dup) c.3639dup (p.Thr1214HisfsTer?) c.3621dup (p.Thr1208HisfsTer?)	ClinVar dbSNP
22	g.50721475C>A	CA515262565	SHANK3	c.3243C>A (p.Ala1081=) n.3827C>A c.2295C>A (p.Ala765=) c.1785C>A (p.Ala595=) c.2241C>A (n.2241C>A) c.3639C>A (p.Ala1213=) c.3621C>A (p.Ala1207=)
22	g.50721475C>G	CA515262567	SHANK3	c.3243C>G (p.Ala1081=) n.3827C>G c.2295C>G (p.Ala765=) c.1785C>G (p.Ala595=) c.2241C>G (n.2241C>G) c.3639C>G (p.Ala1213=) c.3621C>G (p.Ala1207=)
22	g.50721475C>T	CA515262566	SHANK3	c.3243C>T (p.Ala1081=) n.3827C>T c.2295C>T (p.Ala765=) c.1785C>T (p.Ala595=) c.2241C>T (n.2241C>T) c.3639C>T (p.Ala1213=) c.3621C>T (p.Ala1207=)	ClinVar gnomAD v4
22	g.50721476A=	CA2411008263	SHANK3	c.3244A= (p.Thr1082=) n.3828A= c.2296A= (p.Thr766=) c.1786A= (p.Thr596=) c.2242A= (n.2242A=) c.3640A= (p.Thr1214=) c.3622A= (p.Thr1208=)
22	g.50721476A>C	CA515262569	SHANK3	c.3244A>C (p.Thr1082Pro) n.3828A>C c.2296A>C (p.Thr766Pro) c.1786A>C (p.Thr596Pro) c.2242A>C (n.2242A>C) c.3640A>C (p.Thr1214Pro) c.3622A>C (p.Thr1208Pro)
22	g.50721476A>G	CA515262572	SHANK3	c.3244A>G (p.Thr1082Ala) n.3828A>G c.2296A>G (p.Thr766Ala) c.1786A>G (p.Thr596Ala) c.2242A>G (n.2242A>G) c.3640A>G (p.Thr1214Ala) c.3622A>G (p.Thr1208Ala)
22	g.50721476A>T	CA515262571	SHANK3	c.3244A>T (p.Thr1082Ser) n.3828A>T c.2296A>T (p.Thr766Ser) c.1786A>T (p.Thr596Ser) c.2242A>T (n.2242A>T) c.3640A>T (p.Thr1214Ser) c.3622A>T (p.Thr1208Ser)	ClinVar dbSNP
22	g.50721477C>A	CA515262574	SHANK3	c.3245C>A (p.Thr1082Asn) n.3829C>A c.2297C>A (p.Thr766Asn) c.1787C>A (p.Thr596Asn) c.2243C>A (n.2243C>A) c.3641C>A (p.Thr1214Asn) c.3623C>A (p.Thr1208Asn)
22	g.50721477C=	CA2411008264	SHANK3	c.3245C= (p.Thr1082=) n.3829C= c.2297C= (p.Thr766=) c.1787C= (p.Thr596=) c.2243C= (n.2243C=) c.3641C= (p.Thr1214=) c.3623C= (p.Thr1208=)
22	g.50721477C>G	CA10326092	SHANK3	c.3245C>G (p.Thr1082Ser) n.3829C>G c.2297C>G (p.Thr766Ser) c.1787C>G (p.Thr596Ser) c.2243C>G (n.2243C>G) c.3641C>G (p.Thr1214Ser) c.3623C>G (p.Thr1208Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721477C>T	CA515262575	SHANK3	c.3245C>T (p.Thr1082Ile) n.3829C>T c.2297C>T (p.Thr766Ile) c.1787C>T (p.Thr596Ile) c.2243C>T (n.2243C>T) c.3641C>T (p.Thr1214Ile) c.3623C>T (p.Thr1208Ile)	dbSNP gnomAD v4
22	g.50721478C>A	CA515262577	SHANK3	c.3246C>A (p.Thr1082=) n.3830C>A c.2298C>A (p.Thr766=) c.1788C>A (p.Thr596=) c.2244C>A (n.2244C>A) c.3642C>A (p.Thr1214=) c.3624C>A (p.Thr1208=)	gnomAD v4
22	g.50721478C=	CA2411008265	SHANK3	c.3246C= (p.Thr1082=) n.3830C= c.2298C= (p.Thr766=) c.1788C= (p.Thr596=) c.2244C= (n.2244C=) c.3642C= (p.Thr1214=) c.3624C= (p.Thr1208=)
22	g.50721478C>G	CA515262580	SHANK3	c.3246C>G (p.Thr1082=) n.3830C>G c.2298C>G (p.Thr766=) c.1788C>G (p.Thr596=) c.2244C>G (n.2244C>G) c.3642C>G (p.Thr1214=) c.3624C>G (p.Thr1208=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721478C>T	CA10326093	SHANK3	c.3246C>T (p.Thr1082=) n.3830C>T c.2298C>T (p.Thr766=) c.1788C>T (p.Thr596=) c.2244C>T (n.2244C>T) c.3642C>T (p.Thr1214=) c.3624C>T (p.Thr1208=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721479A>C	CA515262581	SHANK3	c.3247A>C (p.Ser1083Arg) n.3831A>C c.2299A>C (p.Ser767Arg) c.1789A>C (p.Ser597Arg) c.2245A>C (n.2245A>C) c.3643A>C (p.Ser1215Arg) c.3625A>C (p.Ser1209Arg)	gnomAD v4
22	g.50721479A>G	CA515262582	SHANK3	c.3247A>G (p.Ser1083Gly) n.3831A>G c.2299A>G (p.Ser767Gly) c.1789A>G (p.Ser597Gly) c.2245A>G (n.2245A>G) c.3643A>G (p.Ser1215Gly) c.3625A>G (p.Ser1209Gly)
22	g.50721479A>T	CA515262583	SHANK3	c.3247A>T (p.Ser1083Cys) n.3831A>T c.2299A>T (p.Ser767Cys) c.1789A>T (p.Ser597Cys) c.2245A>T (n.2245A>T) c.3643A>T (p.Ser1215Cys) c.3625A>T (p.Ser1209Cys)
22	g.50721480G>A	CA515262584	SHANK3	c.3248G>A (p.Ser1083Asn) n.3832G>A c.2300G>A (p.Ser767Asn) c.1790G>A (p.Ser597Asn) c.2246G>A (n.2246G>A) c.3644G>A (p.Ser1215Asn) c.3626G>A (p.Ser1209Asn)	dbSNP gnomAD v2 gnomAD v4
22	g.50721480G>C	CA515262585	SHANK3	c.3248G>C (p.Ser1083Thr) n.3832G>C c.2300G>C (p.Ser767Thr) c.1790G>C (p.Ser597Thr) c.2246G>C (n.2246G>C) c.3644G>C (p.Ser1215Thr) c.3626G>C (p.Ser1209Thr)	dbSNP gnomAD v2 gnomAD v4
22	g.50721480G=	CA2411008266	SHANK3	c.3248G= (p.Ser1083=) n.3832G= c.2300G= (p.Ser767=) c.1790G= (p.Ser597=) c.2246G= (n.2246G=) c.3644G= (p.Ser1215=) c.3626G= (p.Ser1209=)
22	g.50721480G>T	CA515262586	SHANK3	c.3248G>T (p.Ser1083Ile) n.3832G>T c.2300G>T (p.Ser767Ile) c.1790G>T (p.Ser597Ile) c.2246G>T (n.2246G>T) c.3644G>T (p.Ser1215Ile) c.3626G>T (p.Ser1209Ile)
22	g.50721481del	CA645619942	SHANK3	c.3249del (p.Ser1083ArgfsTer?) n.3833del c.2301del (p.Ser767ArgfsTer?) c.1791del (p.Ser597ArgfsTer?) c.2247del (n.2247del) c.3645del (p.Ser1215ArgfsTer?) c.3627del (p.Ser1209ArgfsTer?)	COSMIC COSMIC
22	g.50721481C>A	CA515262591	SHANK3	c.3249C>A (p.Ser1083Arg) n.3833C>A c.2301C>A (p.Ser767Arg) c.1791C>A (p.Ser597Arg) c.2247C>A (n.2247C>A) c.3645C>A (p.Ser1215Arg) c.3627C>A (p.Ser1209Arg)
22	g.50721481C>G	CA515262590	SHANK3	c.3249C>G (p.Ser1083Arg) n.3833C>G c.2301C>G (p.Ser767Arg) c.1791C>G (p.Ser597Arg) c.2247C>G (n.2247C>G) c.3645C>G (p.Ser1215Arg) c.3627C>G (p.Ser1209Arg)
22	g.50721481C>T	CA515262588	SHANK3	c.3249C>T (p.Ser1083=) n.3833C>T c.2301C>T (p.Ser767=) c.1791C>T (p.Ser597=) c.2247C>T (n.2247C>T) c.3645C>T (p.Ser1215=) c.3627C>T (p.Ser1209=)
22	g.50721482A>C	CA515262592	SHANK3	c.3250A>C (p.Asn1084His) n.3834A>C c.2302A>C (p.Asn768His) c.1792A>C (p.Asn598His) c.2248A>C (n.2248A>C) c.3646A>C (p.Asn1216His) c.3628A>C (p.Asn1210His)
22	g.50721482A>G	CA515262594	SHANK3	c.3250A>G (p.Asn1084Asp) n.3834A>G c.2302A>G (p.Asn768Asp) c.1792A>G (p.Asn598Asp) c.2248A>G (n.2248A>G) c.3646A>G (p.Asn1216Asp) c.3628A>G (p.Asn1210Asp)
22	g.50721482A>T	CA515262596	SHANK3	c.3250A>T (p.Asn1084Tyr) n.3834A>T c.2302A>T (p.Asn768Tyr) c.1792A>T (p.Asn598Tyr) c.2248A>T (n.2248A>T) c.3646A>T (p.Asn1216Tyr) c.3628A>T (p.Asn1210Tyr)
22	g.50721483A=	CA2411008267	SHANK3	c.3251A= (p.Asn1084=) n.3835A= c.2303A= (p.Asn768=) c.1793A= (p.Asn598=) c.2249A= (n.2249A=) c.3647A= (p.Asn1216=) c.3629A= (p.Asn1210=)
22	g.50721483A>C	CA515262598	SHANK3	c.3251A>C (p.Asn1084Thr) n.3835A>C c.2303A>C (p.Asn768Thr) c.1793A>C (p.Asn598Thr) c.2249A>C (n.2249A>C) c.3647A>C (p.Asn1216Thr) c.3629A>C (p.Asn1210Thr)
22	g.50721483A>G	CA515262600	SHANK3	c.3251A>G (p.Asn1084Ser) n.3835A>G c.2303A>G (p.Asn768Ser) c.1793A>G (p.Asn598Ser) c.2249A>G (n.2249A>G) c.3647A>G (p.Asn1216Ser) c.3629A>G (p.Asn1210Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50721483A>T	CA515262601	SHANK3	c.3251A>T (p.Asn1084Ile) n.3835A>T c.2303A>T (p.Asn768Ile) c.1793A>T (p.Asn598Ile) c.2249A>T (n.2249A>T) c.3647A>T (p.Asn1216Ile) c.3629A>T (p.Asn1210Ile)
22	g.50721484C>A	CA515262602	SHANK3	c.3252C>A (p.Asn1084Lys) n.3836C>A c.2304C>A (p.Asn768Lys) c.1794C>A (p.Asn598Lys) c.2250C>A (n.2250C>A) c.3648C>A (p.Asn1216Lys) c.3630C>A (p.Asn1210Lys)
22	g.50721484C=	CA2411008268	SHANK3	c.3252C= (p.Asn1084=) n.3836C= c.2304C= (p.Asn768=) c.1794C= (p.Asn598=) c.2250C= (n.2250C=) c.3648C= (p.Asn1216=) c.3630C= (p.Asn1210=)
22	g.50721484C>G	CA10326095	SHANK3	c.3252C>G (p.Asn1084Lys) n.3836C>G c.2304C>G (p.Asn768Lys) c.1794C>G (p.Asn598Lys) c.2250C>G (n.2250C>G) c.3648C>G (p.Asn1216Lys) c.3630C>G (p.Asn1210Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721484C>T	CA10326094	SHANK3	c.3252C>T (p.Asn1084=) n.3836C>T c.2304C>T (p.Asn768=) c.1794C>T (p.Asn598=) c.2250C>T (n.2250C>T) c.3648C>T (p.Asn1216=) c.3630C>T (p.Asn1210=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721485G>A	CA325579293	SHANK3	c.3253G>A (p.Gly1085Arg) n.3837G>A c.2305G>A (p.Gly769Arg) c.1795G>A (p.Gly599Arg) c.2251G>A (n.2251G>A) c.3649G>A (p.Gly1217Arg) c.3631G>A (p.Gly1211Arg)	dbSNP gnomAD v2 gnomAD v4
22	g.50721485G>C	CA515262603	SHANK3	c.3253G>C (p.Gly1085Arg) n.3837G>C c.2305G>C (p.Gly769Arg) c.1795G>C (p.Gly599Arg) c.2251G>C (n.2251G>C) c.3649G>C (p.Gly1217Arg) c.3631G>C (p.Gly1211Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721485G=	CA2411008269	SHANK3	c.3253G= (p.Gly1085=) n.3837G= c.2305G= (p.Gly769=) c.1795G= (p.Gly599=) c.2251G= (n.2251G=) c.3649G= (p.Gly1217=) c.3631G= (p.Gly1211=)
22	g.50721485G>T	CA515262604	SHANK3	c.3253G>T (p.Gly1085Trp) n.3837G>T c.2305G>T (p.Gly769Trp) c.1795G>T (p.Gly599Trp) c.2251G>T (n.2251G>T) c.3649G>T (p.Gly1217Trp) c.3631G>T (p.Gly1211Trp)
22	g.50721486G>A	CA515262605	SHANK3	c.3254G>A (p.Gly1085Glu) n.3838G>A c.2306G>A (p.Gly769Glu) c.1796G>A (p.Gly599Glu) c.2252G>A (n.2252G>A) c.3650G>A (p.Gly1217Glu) c.3632G>A (p.Gly1211Glu)	dbSNP gnomAD v4
22	g.50721486G>C	CA515262607	SHANK3	c.3254G>C (p.Gly1085Ala) n.3838G>C c.2306G>C (p.Gly769Ala) c.1796G>C (p.Gly599Ala) c.2252G>C (n.2252G>C) c.3650G>C (p.Gly1217Ala) c.3632G>C (p.Gly1211Ala)
22	g.50721486G=	CA2411008270	SHANK3	c.3254G= (p.Gly1085=) n.3838G= c.2306G= (p.Gly769=) c.1796G= (p.Gly599=) c.2252G= (n.2252G=) c.3650G= (p.Gly1217=) c.3632G= (p.Gly1211=)
22	g.50721486G>T	CA515262608	SHANK3	c.3254G>T (p.Gly1085Val) n.3838G>T c.2306G>T (p.Gly769Val) c.1796G>T (p.Gly599Val) c.2252G>T (n.2252G>T) c.3650G>T (p.Gly1217Val) c.3632G>T (p.Gly1211Val)
22	g.50721487G>A	CA515262609	SHANK3	c.3255G>A (p.Gly1085=) n.3839G>A c.2307G>A (p.Gly769=) c.1797G>A (p.Gly599=) c.2253G>A (n.2253G>A) c.3651G>A (p.Gly1217=) c.3633G>A (p.Gly1211=)	gnomAD v4
22	g.50721487G>C	CA10326096	SHANK3	c.3255G>C (p.Gly1085=) n.3839G>C c.2307G>C (p.Gly769=) c.1797G>C (p.Gly599=) c.2253G>C (n.2253G>C) c.3651G>C (p.Gly1217=) c.3633G>C (p.Gly1211=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721487G=	CA2411008271	SHANK3	c.3255G= (p.Gly1085=) n.3839G= c.2307G= (p.Gly769=) c.1797G= (p.Gly599=) c.2253G= (n.2253G=) c.3651G= (p.Gly1217=) c.3633G= (p.Gly1211=)
22	g.50721487G>T	CA515262610	SHANK3	c.3255G>T (p.Gly1085=) n.3839G>T c.2307G>T (p.Gly769=) c.1797G>T (p.Gly599=) c.2253G>T (n.2253G>T) c.3651G>T (p.Gly1217=) c.3633G>T (p.Gly1211=)
22	g.50721488C>A	CA515262611	SHANK3	c.3256C>A (p.Gln1086Lys) n.3840C>A c.2308C>A (p.Gln770Lys) c.1798C>A (p.Gln600Lys) c.2254C>A (n.2254C>A) c.3652C>A (p.Gln1218Lys) c.3634C>A (p.Gln1212Lys)	gnomAD v4
22	g.50721488C=	CA2411008272	SHANK3	c.3256C= (p.Gln1086=) n.3840C= c.2308C= (p.Gln770=) c.1798C= (p.Gln600=) c.2254C= (n.2254C=) c.3652C= (p.Gln1218=) c.3634C= (p.Gln1212=)
22	g.50721488C>G	CA10326097	SHANK3	c.3256C>G (p.Gln1086Glu) n.3840C>G c.2308C>G (p.Gln770Glu) c.1798C>G (p.Gln600Glu) c.2254C>G (n.2254C>G) c.3652C>G (p.Gln1218Glu) c.3634C>G (p.Gln1212Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721488C>T	CA515262612	SHANK3	c.3256C>T (p.Gln1086Ter) n.3840C>T c.2308C>T (p.Gln770Ter) c.1798C>T (p.Gln600Ter) c.2254C>T (n.2254C>T) c.3652C>T (p.Gln1218Ter) c.3634C>T (p.Gln1212Ter)
22	g.50721489A=	CA2411008273	SHANK3	c.3257A= (p.Gln1086=) n.3841A= c.2309A= (p.Gln770=) c.1799A= (p.Gln600=) c.2255A= (n.2255A=) c.3653A= (p.Gln1218=) c.3635A= (p.Gln1212=)
22	g.50721489A>C	CA515262613	SHANK3	c.3257A>C (p.Gln1086Pro) n.3841A>C c.2309A>C (p.Gln770Pro) c.1799A>C (p.Gln600Pro) c.2255A>C (n.2255A>C) c.3653A>C (p.Gln1218Pro) c.3635A>C (p.Gln1212Pro)
22	g.50721489A>G	CA515262615	SHANK3	c.3257A>G (p.Gln1086Arg) n.3841A>G c.2309A>G (p.Gln770Arg) c.1799A>G (p.Gln600Arg) c.2255A>G (n.2255A>G) c.3653A>G (p.Gln1218Arg) c.3635A>G (p.Gln1212Arg)	dbSNP gnomAD v3 gnomAD v4
22	g.50721489A>T	CA515262614	SHANK3	c.3257A>T (p.Gln1086Leu) n.3841A>T c.2309A>T (p.Gln770Leu) c.1799A>T (p.Gln600Leu) c.2255A>T (n.2255A>T) c.3653A>T (p.Gln1218Leu) c.3635A>T (p.Gln1212Leu)
22	g.50721490G>A	CA325579305	SHANK3	c.3258G>A (p.Gln1086=) n.3842G>A c.2310G>A (p.Gln770=) c.1800G>A (p.Gln600=) c.2256G>A (n.2256G>A) c.3654G>A (p.Gln1218=) c.3636G>A (p.Gln1212=)	dbSNP gnomAD v4
22	g.50721490G>C	CA515262616	SHANK3	c.3258G>C (p.Gln1086His) n.3842G>C c.2310G>C (p.Gln770His) c.1800G>C (p.Gln600His) c.2256G>C (n.2256G>C) c.3654G>C (p.Gln1218His) c.3636G>C (p.Gln1212His)
22	g.50721490G=	CA2411008274	SHANK3	c.3258G= (p.Gln1086=) n.3842G= c.2310G= (p.Gln770=) c.1800G= (p.Gln600=) c.2256G= (n.2256G=) c.3654G= (p.Gln1218=) c.3636G= (p.Gln1212=)
22	g.50721490G>T	CA515262617	SHANK3	c.3258G>T (p.Gln1086His) n.3842G>T c.2310G>T (p.Gln770His) c.1800G>T (p.Gln600His) c.2256G>T (n.2256G>T) c.3654G>T (p.Gln1218His) c.3636G>T (p.Gln1212His)
22	g.50721491G>A	CA10326098	SHANK3	c.3259G>A (p.Glu1087Lys) n.3843G>A c.2311G>A (p.Glu771Lys) c.1801G>A (p.Glu601Lys) c.2257G>A (n.2257G>A) c.3655G>A (p.Glu1219Lys) c.3637G>A (p.Glu1213Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721491G>C	CA515262622	SHANK3	c.3259G>C (p.Glu1087Gln) n.3843G>C c.2311G>C (p.Glu771Gln) c.1801G>C (p.Glu601Gln) c.2257G>C (n.2257G>C) c.3655G>C (p.Glu1219Gln) c.3637G>C (p.Glu1213Gln)	dbSNP gnomAD v2 gnomAD v4
22	g.50721491G=	CA2411008275	SHANK3	c.3259G= (p.Glu1087=) n.3843G= c.2311G= (p.Glu771=) c.1801G= (p.Glu601=) c.2257G= (n.2257G=) c.3655G= (p.Glu1219=) c.3637G= (p.Glu1213=)
22	g.50721491G>T	CA515262623	SHANK3	c.3259G>T (p.Glu1087Ter) n.3843G>T c.2311G>T (p.Glu771Ter) c.1801G>T (p.Glu601Ter) c.2257G>T (n.2257G>T) c.3655G>T (p.Glu1219Ter) c.3637G>T (p.Glu1213Ter)	gnomAD v4
22	g.50721492A>C	CA515262624	SHANK3	c.3260A>C (p.Glu1087Ala) n.3844A>C c.2312A>C (p.Glu771Ala) c.1802A>C (p.Glu601Ala) c.2258A>C (n.2258A>C) c.3656A>C (p.Glu1219Ala) c.3638A>C (p.Glu1213Ala)
22	g.50721492A>G	CA515262625	SHANK3	c.3260A>G (p.Glu1087Gly) n.3844A>G c.2312A>G (p.Glu771Gly) c.1802A>G (p.Glu601Gly) c.2258A>G (n.2258A>G) c.3656A>G (p.Glu1219Gly) c.3638A>G (p.Glu1213Gly)
22	g.50721492A>T	CA515262626	SHANK3	c.3260A>T (p.Glu1087Val) n.3844A>T c.2312A>T (p.Glu771Val) c.1802A>T (p.Glu601Val) c.2258A>T (n.2258A>T) c.3656A>T (p.Glu1219Val) c.3638A>T (p.Glu1213Val)
22	g.50721493G>A	CA10326099	SHANK3	c.3261G>A (p.Glu1087=) n.3845G>A c.2313G>A (p.Glu771=) c.1803G>A (p.Glu601=) c.2259G>A (n.2259G>A) c.3657G>A (p.Glu1219=) c.3639G>A (p.Glu1213=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721493G>C	CA515262627	SHANK3	c.3261G>C (p.Glu1087Asp) n.3845G>C c.2313G>C (p.Glu771Asp) c.1803G>C (p.Glu601Asp) c.2259G>C (n.2259G>C) c.3657G>C (p.Glu1219Asp) c.3639G>C (p.Glu1213Asp)
22	g.50721493G=	CA2411008276	SHANK3	c.3261G= (p.Glu1087=) n.3845G= c.2313G= (p.Glu771=) c.1803G= (p.Glu601=) c.2259G= (n.2259G=) c.3657G= (p.Glu1219=) c.3639G= (p.Glu1213=)
22	g.50721493G>T	CA515262628	SHANK3	c.3261G>T (p.Glu1087Asp) n.3845G>T c.2313G>T (p.Glu771Asp) c.1803G>T (p.Glu601Asp) c.2259G>T (n.2259G>T) c.3657G>T (p.Glu1219Asp) c.3639G>T (p.Glu1213Asp)
22	g.50721494C>A	CA515262633	SHANK3	c.3262C>A (p.Pro1088Thr) n.3846C>A c.2314C>A (p.Pro772Thr) c.1804C>A (p.Pro602Thr) c.2260C>A (n.2260C>A) c.3658C>A (p.Pro1220Thr) c.3640C>A (p.Pro1214Thr)	gnomAD v4
22	g.50721494C=	CA2411008277	SHANK3	c.3262C= (p.Pro1088=) n.3846C= c.2314C= (p.Pro772=) c.1804C= (p.Pro602=) c.2260C= (n.2260C=) c.3658C= (p.Pro1220=) c.3640C= (p.Pro1214=)
22	g.50721494C>G	CA515262631	SHANK3	c.3262C>G (p.Pro1088Ala) n.3846C>G c.2314C>G (p.Pro772Ala) c.1804C>G (p.Pro602Ala) c.2260C>G (n.2260C>G) c.3658C>G (p.Pro1220Ala) c.3640C>G (p.Pro1214Ala)	dbSNP gnomAD v2 gnomAD v4
22	g.50721494C>T	CA515262629	SHANK3	c.3262C>T (p.Pro1088Ser) n.3846C>T c.2314C>T (p.Pro772Ser) c.1804C>T (p.Pro602Ser) c.2260C>T (n.2260C>T) c.3658C>T (p.Pro1220Ser) c.3640C>T (p.Pro1214Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721495C>A	CA515262636	SHANK3	c.3263C>A (p.Pro1088His) n.3847C>A c.2315C>A (p.Pro772His) c.1805C>A (p.Pro602His) c.2261C>A (n.2261C>A) c.3659C>A (p.Pro1220His) c.3641C>A (p.Pro1214His)	dbSNP gnomAD v4
22	g.50721495C=	CA2411008278	SHANK3	c.3263C= (p.Pro1088=) n.3847C= c.2315C= (p.Pro772=) c.1805C= (p.Pro602=) c.2261C= (n.2261C=) c.3659C= (p.Pro1220=) c.3641C= (p.Pro1214=)
22	g.50721495C>G	CA515262637	SHANK3	c.3263C>G (p.Pro1088Arg) n.3847C>G c.2315C>G (p.Pro772Arg) c.1805C>G (p.Pro602Arg) c.2261C>G (n.2261C>G) c.3659C>G (p.Pro1220Arg) c.3641C>G (p.Pro1214Arg)
22	g.50721495C>T	CA515262638	SHANK3	c.3263C>T (p.Pro1088Leu) n.3847C>T c.2315C>T (p.Pro772Leu) c.1805C>T (p.Pro602Leu) c.2261C>T (n.2261C>T) c.3659C>T (p.Pro1220Leu) c.3641C>T (p.Pro1214Leu)	gnomAD v4
22	g.50721496C>A	CA515262639	SHANK3	c.3264C>A (p.Pro1088=) n.3848C>A c.2316C>A (p.Pro772=) c.1806C>A (p.Pro602=) c.2262C>A (n.2262C>A) c.3660C>A (p.Pro1220=) c.3642C>A (p.Pro1214=)
22	g.50721496C=	CA2411008279	SHANK3	c.3264C= (p.Pro1088=) n.3848C= c.2316C= (p.Pro772=) c.1806C= (p.Pro602=) c.2262C= (n.2262C=) c.3660C= (p.Pro1220=) c.3642C= (p.Pro1214=)
22	g.50721496C>G	CA515262640	SHANK3	c.3264C>G (p.Pro1088=) n.3848C>G c.2316C>G (p.Pro772=) c.1806C>G (p.Pro602=) c.2262C>G (n.2262C>G) c.3660C>G (p.Pro1220=) c.3642C>G (p.Pro1214=)
22	g.50721496C>T	CA515262642	SHANK3	c.3264C>T (p.Pro1088=) n.3848C>T c.2316C>T (p.Pro772=) c.1806C>T (p.Pro602=) c.2262C>T (n.2262C>T) c.3660C>T (p.Pro1220=) c.3642C>T (p.Pro1214=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721497A>C	CA515262644	SHANK3	c.3265A>C (p.Ser1089Arg) n.3849A>C c.2317A>C (p.Ser773Arg) c.1807A>C (p.Ser603Arg) c.2263A>C (n.2263A>C) c.3661A>C (p.Ser1221Arg) c.3643A>C (p.Ser1215Arg)
22	g.50721497A>G	CA515262645	SHANK3	c.3265A>G (p.Ser1089Gly) n.3849A>G c.2317A>G (p.Ser773Gly) c.1807A>G (p.Ser603Gly) c.2263A>G (n.2263A>G) c.3661A>G (p.Ser1221Gly) c.3643A>G (p.Ser1215Gly)
22	g.50721497A>T	CA515262647	SHANK3	c.3265A>T (p.Ser1089Cys) n.3849A>T c.2317A>T (p.Ser773Cys) c.1807A>T (p.Ser603Cys) c.2263A>T (n.2263A>T) c.3661A>T (p.Ser1221Cys) c.3643A>T (p.Ser1215Cys)
22	g.50721498G>A	CA515262649	SHANK3	c.3266G>A (p.Ser1089Asn) n.3850G>A c.2318G>A (p.Ser773Asn) c.1808G>A (p.Ser603Asn) c.2264G>A (n.2264G>A) c.3662G>A (p.Ser1221Asn) c.3644G>A (p.Ser1215Asn)
22	g.50721498G>C	CA515262651	SHANK3	c.3266G>C (p.Ser1089Thr) n.3850G>C c.2318G>C (p.Ser773Thr) c.1808G>C (p.Ser603Thr) c.2264G>C (n.2264G>C) c.3662G>C (p.Ser1221Thr) c.3644G>C (p.Ser1215Thr)
22	g.50721498G>T	CA515262652	SHANK3	c.3266G>T (p.Ser1089Ile) n.3850G>T c.2318G>T (p.Ser773Ile) c.1808G>T (p.Ser603Ile) c.2264G>T (n.2264G>T) c.3662G>T (p.Ser1221Ile) c.3644G>T (p.Ser1215Ile)
22	g.50721499C>A	CA515262653	SHANK3	c.3267C>A (p.Ser1089Arg) n.3851C>A c.2319C>A (p.Ser773Arg) c.1809C>A (p.Ser603Arg) c.2265C>A (n.2265C>A) c.3663C>A (p.Ser1221Arg) c.3645C>A (p.Ser1215Arg)
22	g.50721499C=	CA2411008280	SHANK3	c.3267C= (p.Ser1089=) n.3851C= c.2319C= (p.Ser773=) c.1809C= (p.Ser603=) c.2265C= (n.2265C=) c.3663C= (p.Ser1221=) c.3645C= (p.Ser1215=)
22	g.50721499C>G	CA325579314	SHANK3	c.3267C>G (p.Ser1089Arg) n.3851C>G c.2319C>G (p.Ser773Arg) c.1809C>G (p.Ser603Arg) c.2265C>G (n.2265C>G) c.3663C>G (p.Ser1221Arg) c.3645C>G (p.Ser1215Arg)	dbSNP
22	g.50721499C>T	CA515262654	SHANK3	c.3267C>T (p.Ser1089=) n.3851C>T c.2319C>T (p.Ser773=) c.1809C>T (p.Ser603=) c.2265C>T (n.2265C>T) c.3663C>T (p.Ser1221=) c.3645C>T (p.Ser1215=)	dbSNP gnomAD v4
22	g.50721500A=	CA2411008281	SHANK3	c.3268A= (p.Arg1090=) n.3852A= c.2320A= (p.Arg774=) c.1810A= (p.Arg604=) c.2266A= (n.2266A=) c.3664A= (p.Arg1222=) c.3646A= (p.Arg1216=)
22	g.50721500A>C	CA515262655	SHANK3	c.3268A>C (p.Arg1090=) n.3852A>C c.2320A>C (p.Arg774=) c.1810A>C (p.Arg604=) c.2266A>C (n.2266A>C) c.3664A>C (p.Arg1222=) c.3646A>C (p.Arg1216=)
22	g.50721500A>G	CA325579316	SHANK3	c.3268A>G (p.Arg1090Gly) n.3852A>G c.2320A>G (p.Arg774Gly) c.1810A>G (p.Arg604Gly) c.2266A>G (n.2266A>G) c.3664A>G (p.Arg1222Gly) c.3646A>G (p.Arg1216Gly)	dbSNP gnomAD v3 gnomAD v4
22	g.50721500A>T	CA515262656	SHANK3	c.3268A>T (p.Arg1090Trp) n.3852A>T c.2320A>T (p.Arg774Trp) c.1810A>T (p.Arg604Trp) c.2266A>T (n.2266A>T) c.3664A>T (p.Arg1222Trp) c.3646A>T (p.Arg1216Trp)
22	g.50721501G>A	CA515262657	SHANK3	c.3269G>A (p.Arg1090Lys) n.3853G>A c.2321G>A (p.Arg774Lys) c.1811G>A (p.Arg604Lys) c.2267G>A (n.2267G>A) c.3665G>A (p.Arg1222Lys) c.3647G>A (p.Arg1216Lys)	gnomAD v4
22	g.50721501G>C	CA515262658	SHANK3	c.3269G>C (p.Arg1090Thr) n.3853G>C c.2321G>C (p.Arg774Thr) c.1811G>C (p.Arg604Thr) c.2267G>C (n.2267G>C) c.3665G>C (p.Arg1222Thr) c.3647G>C (p.Arg1216Thr)	gnomAD v4
22	g.50721501G>T	CA515262659	SHANK3	c.3269G>T (p.Arg1090Met) n.3853G>T c.2321G>T (p.Arg774Met) c.1811G>T (p.Arg604Met) c.2267G>T (n.2267G>T) c.3665G>T (p.Arg1222Met) c.3647G>T (p.Arg1216Met)
22	g.50721502G>A	CA515262660	SHANK3	c.3270G>A (p.Arg1090=) n.3854G>A c.2322G>A (p.Arg774=) c.1812G>A (p.Arg604=) c.2268G>A (n.2268G>A) c.3666G>A (p.Arg1222=) c.3648G>A (p.Arg1216=)
22	g.50721502G>C	CA515262662	SHANK3	c.3270G>C (p.Arg1090Ser) n.3854G>C c.2322G>C (p.Arg774Ser) c.1812G>C (p.Arg604Ser) c.2268G>C (n.2268G>C) c.3666G>C (p.Arg1222Ser) c.3648G>C (p.Arg1216Ser)
22	g.50721502G>T	CA515262663	SHANK3	c.3270G>T (p.Arg1090Ser) n.3854G>T c.2322G>T (p.Arg774Ser) c.1812G>T (p.Arg604Ser) c.2268G>T (n.2268G>T) c.3666G>T (p.Arg1222Ser) c.3648G>T (p.Arg1216Ser)	gnomAD v4
22	g.50721503C>A	CA515262666	SHANK3	c.3271C>A (p.Leu1091Met) n.3855C>A c.2323C>A (p.Leu775Met) c.1813C>A (p.Leu605Met) c.2269C>A (n.2269C>A) c.3667C>A (p.Leu1223Met) c.3649C>A (p.Leu1217Met)
22	g.50721503C=	CA2411008282	SHANK3	c.3271C= (p.Leu1091=) n.3855C= c.2323C= (p.Leu775=) c.1813C= (p.Leu605=) c.2269C= (n.2269C=) c.3667C= (p.Leu1223=) c.3649C= (p.Leu1217=)
22	g.50721503C>G	CA515262668	SHANK3	c.3271C>G (p.Leu1091Val) n.3855C>G c.2323C>G (p.Leu775Val) c.1813C>G (p.Leu605Val) c.2269C>G (n.2269C>G) c.3667C>G (p.Leu1223Val) c.3649C>G (p.Leu1217Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50721503C>T	CA515262669	SHANK3	c.3271C>T (p.Leu1091=) n.3855C>T c.2323C>T (p.Leu775=) c.1813C>T (p.Leu605=) c.2269C>T (n.2269C>T) c.3667C>T (p.Leu1223=) c.3649C>T (p.Leu1217=)
22	g.50721504T>A	CA515262670	SHANK3	c.3272T>A (p.Leu1091Gln) n.3856T>A c.2324T>A (p.Leu775Gln) c.1814T>A (p.Leu605Gln) c.2270T>A (n.2270T>A) c.3668T>A (p.Leu1223Gln) c.3650T>A (p.Leu1217Gln)
22	g.50721504T>C	CA515262671	SHANK3	c.3272T>C (p.Leu1091Pro) n.3856T>C c.2324T>C (p.Leu775Pro) c.1814T>C (p.Leu605Pro) c.2270T>C (n.2270T>C) c.3668T>C (p.Leu1223Pro) c.3650T>C (p.Leu1217Pro)
22	g.50721504T>G	CA515262672	SHANK3	c.3272T>G (p.Leu1091Arg) n.3856T>G c.2324T>G (p.Leu775Arg) c.1814T>G (p.Leu605Arg) c.2270T>G (n.2270T>G) c.3668T>G (p.Leu1223Arg) c.3650T>G (p.Leu1217Arg)	dbSNP gnomAD v4
22	g.50721504T=	CA2411008284	SHANK3	c.3272T= (p.Leu1091=) n.3856T= c.2324T= (p.Leu775=) c.1814T= (p.Leu605=) c.2270T= (n.2270T=) c.3668T= (p.Leu1223=) c.3650T= (p.Leu1217=)
22	g.50721504_50721507delinsTGGG	CA2411008283	SHANK3	c.3272_3275delinsTGGG (p.Leu1091=) n.3856_3859delinsTGGG c.2324_2327delinsTGGG (p.Leu775=) c.1814_1817delinsTGGG (p.Leu605=) c.2270_2273delinsTGGG (n.2270_2273delinsTGGG) c.3668_3671delinsTGGG (p.Leu1223=) c.3650_3653delinsTGGG (p.Leu1217=)
22	g.50721505G>A	CA515262675	SHANK3	c.3273G>A (p.Leu1091=) n.3857G>A c.2325G>A (p.Leu775=) c.1815G>A (p.Leu605=) c.2271G>A (n.2271G>A) c.3669G>A (p.Leu1223=) c.3651G>A (p.Leu1217=)	gnomAD v4
22	g.50721505G>C	CA10326101	SHANK3	c.3273G>C (p.Leu1091=) n.3857G>C c.2325G>C (p.Leu775=) c.1815G>C (p.Leu605=) c.2271G>C (n.2271G>C) c.3669G>C (p.Leu1223=) c.3651G>C (p.Leu1217=)	dbSNP ExAC gnomAD v2
22	g.50721505G=	CA2411008286	SHANK3	c.3273G= (p.Leu1091=) n.3857G= c.2325G= (p.Leu775=) c.1815G= (p.Leu605=) c.2271G= (n.2271G=) c.3669G= (p.Leu1223=) c.3651G= (p.Leu1217=)
22	g.50721505G>T	CA515262674	SHANK3	c.3273G>T (p.Leu1091=) n.3857G>T c.2325G>T (p.Leu775=) c.1815G>T (p.Leu605=) c.2271G>T (n.2271G>T) c.3669G>T (p.Leu1223=) c.3651G>T (p.Leu1217=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721512dup	CA204839	SHANK3	c.3280dup (p.Ala1094GlyfsTer?) n.3864dup c.2332dup (p.Ala778GlyfsTer?) c.1822dup (p.Ala608GlyfsTer?) c.2278dup (n.2278dup) c.3676dup (p.Ala1226GlyfsTer?) c.3658dup (p.Ala1220GlyfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
22	g.50721511_50721512dup	CA645619943	SHANK3	c.3279_3280dup (p.Ala1094GlyfsTer?) n.3863_3864dup c.2331_2332dup (p.Ala778GlyfsTer?) c.1821_1822dup (p.Ala608GlyfsTer?) c.2277_2278dup (n.2277_2278dup) c.3675_3676dup (p.Ala1226GlyfsTer?) c.3657_3658dup (p.Ala1220GlyfsTer?)	gnomAD v4 COSMIC COSMIC
22	g.50721512del	CA10326100	SHANK3	c.3280del (p.Ala1094ProfsTer?) n.3864del c.2332del (p.Ala778ProfsTer?) c.1822del (p.Ala608ProfsTer?) c.2278del (n.2278del) c.3676del (p.Ala1226ProfsTer?) c.3658del (p.Ala1220ProfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
22	g.50721510_50721512del	CA2411008285	SHANK3	c.3278_3280del (p.Gly1093del) n.3862_3864del c.2330_2332del (p.Gly777del) c.1820_1822del (p.Gly607del) c.2276_2278del (n.2276_2278del) c.3674_3676del (p.Gly1225del) c.3656_3658del (p.Gly1219del)	dbSNP
22	g.50721506G>A	CA515262677	SHANK3	c.3274G>A (p.Gly1092Arg) n.3858G>A c.2326G>A (p.Gly776Arg) c.1816G>A (p.Gly606Arg) c.2272G>A (n.2272G>A) c.3670G>A (p.Gly1224Arg) c.3652G>A (p.Gly1218Arg)
22	g.50721506G>C	CA10326102	SHANK3	c.3274G>C (p.Gly1092Arg) n.3858G>C c.2326G>C (p.Gly776Arg) c.1816G>C (p.Gly606Arg) c.2272G>C (n.2272G>C) c.3670G>C (p.Gly1224Arg) c.3652G>C (p.Gly1218Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721506G=	CA2411008287	SHANK3	c.3274G= (p.Gly1092=) n.3858G= c.2326G= (p.Gly776=) c.1816G= (p.Gly606=) c.2272G= (n.2272G=) c.3670G= (p.Gly1224=) c.3652G= (p.Gly1218=)
22	g.50721506G>T	CA515262679	SHANK3	c.3274G>T (p.Gly1092Trp) n.3858G>T c.2326G>T (p.Gly776Trp) c.1816G>T (p.Gly606Trp) c.2272G>T (n.2272G>T) c.3670G>T (p.Gly1224Trp) c.3652G>T (p.Gly1218Trp)	gnomAD v4
22	g.50721507G>A	CA10326103	SHANK3	c.3275G>A (p.Gly1092Glu) n.3859G>A c.2327G>A (p.Gly776Glu) c.1817G>A (p.Gly606Glu) c.2273G>A (n.2273G>A) c.3671G>A (p.Gly1224Glu) c.3653G>A (p.Gly1218Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721507G>C	CA515262683	SHANK3	c.3275G>C (p.Gly1092Ala) n.3859G>C c.2327G>C (p.Gly776Ala) c.1817G>C (p.Gly606Ala) c.2273G>C (n.2273G>C) c.3671G>C (p.Gly1224Ala) c.3653G>C (p.Gly1218Ala)	dbSNP gnomAD v3 gnomAD v4
22	g.50721507G=	CA2411008288	SHANK3	c.3275G= (p.Gly1092=) n.3859G= c.2327G= (p.Gly776=) c.1817G= (p.Gly606=) c.2273G= (n.2273G=) c.3671G= (p.Gly1224=) c.3653G= (p.Gly1218=)
22	g.50721507G>T	CA515262684	SHANK3	c.3275G>T (p.Gly1092Val) n.3859G>T c.2327G>T (p.Gly776Val) c.1817G>T (p.Gly606Val) c.2273G>T (n.2273G>T) c.3671G>T (p.Gly1224Val) c.3653G>T (p.Gly1218Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721507_50721508insCT	CA2517559273	SHANK3	c.3275_3276insCT (p.Gly1093TrpfsTer?) n.3859_3860insCT c.2327_2328insCT (p.Gly777TrpfsTer?) c.1817_1818insCT (p.Gly607TrpfsTer?) c.2273_2274insCT (n.2273_2274insCT) c.3671_3672insCT (p.Gly1225TrpfsTer?) c.3653_3654insCT (p.Gly1219TrpfsTer?)
22	g.50721508G>A	CA515262686	SHANK3	c.3276G>A (p.Gly1092=) n.3860G>A c.2328G>A (p.Gly776=) c.1818G>A (p.Gly606=) c.2274G>A (n.2274G>A) c.3672G>A (p.Gly1224=) c.3654G>A (p.Gly1218=)	dbSNP gnomAD v2
22	g.50721508G>C	CA515262687	SHANK3	c.3276G>C (p.Gly1092=) n.3860G>C c.2328G>C (p.Gly776=) c.1818G>C (p.Gly606=) c.2274G>C (n.2274G>C) c.3672G>C (p.Gly1224=) c.3654G>C (p.Gly1218=)	gnomAD v4
22	g.50721508G=	CA2411008289	SHANK3	c.3276G= (p.Gly1092=) n.3860G= c.2328G= (p.Gly776=) c.1818G= (p.Gly606=) c.2274G= (n.2274G=) c.3672G= (p.Gly1224=) c.3654G= (p.Gly1218=)
22	g.50721508G>T	CA515262685	SHANK3	c.3276G>T (p.Gly1092=) n.3860G>T c.2328G>T (p.Gly776=) c.1818G>T (p.Gly606=) c.2274G>T (n.2274G>T) c.3672G>T (p.Gly1224=) c.3654G>T (p.Gly1218=)
22	g.50721509G>A	CA515262688	SHANK3	c.3277G>A (p.Gly1093Arg) n.3861G>A c.2329G>A (p.Gly777Arg) c.1819G>A (p.Gly607Arg) c.2275G>A (n.2275G>A) c.3673G>A (p.Gly1225Arg) c.3655G>A (p.Gly1219Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721509G>C	CA515262689	SHANK3	c.3277G>C (p.Gly1093Arg) n.3861G>C c.2329G>C (p.Gly777Arg) c.1819G>C (p.Gly607Arg) c.2275G>C (n.2275G>C) c.3673G>C (p.Gly1225Arg) c.3655G>C (p.Gly1219Arg)
22	g.50721509G=	CA2411008290	SHANK3	c.3277G= (p.Gly1093=) n.3861G= c.2329G= (p.Gly777=) c.1819G= (p.Gly607=) c.2275G= (n.2275G=) c.3673G= (p.Gly1225=) c.3655G= (p.Gly1219=)
22	g.50721509G>T	CA515262691	SHANK3	c.3277G>T (p.Gly1093Trp) n.3861G>T c.2329G>T (p.Gly777Trp) c.1819G>T (p.Gly607Trp) c.2275G>T (n.2275G>T) c.3673G>T (p.Gly1225Trp) c.3655G>T (p.Gly1219Trp)
22	g.50721510G>A	CA10326104	SHANK3	c.3278G>A (p.Gly1093Glu) n.3862G>A c.2330G>A (p.Gly777Glu) c.1820G>A (p.Gly607Glu) c.2276G>A (n.2276G>A) c.3674G>A (p.Gly1225Glu) c.3656G>A (p.Gly1219Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721510G>C	CA515262695	SHANK3	c.3278G>C (p.Gly1093Ala) n.3862G>C c.2330G>C (p.Gly777Ala) c.1820G>C (p.Gly607Ala) c.2276G>C (n.2276G>C) c.3674G>C (p.Gly1225Ala) c.3656G>C (p.Gly1219Ala)	dbSNP gnomAD v3 gnomAD v4
22	g.50721510G=	CA2411008291	SHANK3	c.3278G= (p.Gly1093=) n.3862G= c.2330G= (p.Gly777=) c.1820G= (p.Gly607=) c.2276G= (n.2276G=) c.3674G= (p.Gly1225=) c.3656G= (p.Gly1219=)
22	g.50721510G>T	CA515262697	SHANK3	c.3278G>T (p.Gly1093Val) n.3862G>T c.2330G>T (p.Gly777Val) c.1820G>T (p.Gly607Val) c.2276G>T (n.2276G>T) c.3674G>T (p.Gly1225Val) c.3656G>T (p.Gly1219Val)	gnomAD v4
22	g.50721511G>A	CA10326106	SHANK3	c.3279G>A (p.Gly1093=) n.3863G>A c.2331G>A (p.Gly777=) c.1821G>A (p.Gly607=) c.2277G>A (n.2277G>A) c.3675G>A (p.Gly1225=) c.3657G>A (p.Gly1219=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721511G>C	CA515262698	SHANK3	c.3279G>C (p.Gly1093=) n.3863G>C c.2331G>C (p.Gly777=) c.1821G>C (p.Gly607=) c.2277G>C (n.2277G>C) c.3675G>C (p.Gly1225=) c.3657G>C (p.Gly1219=)	dbSNP gnomAD v4
22	g.50721511G=	CA2411008292	SHANK3	c.3279G= (p.Gly1093=) n.3863G= c.2331G= (p.Gly777=) c.1821G= (p.Gly607=) c.2277G= (n.2277G=) c.3675G= (p.Gly1225=) c.3657G= (p.Gly1219=)
22	g.50721511G>T	CA10326105	SHANK3	c.3279G>T (p.Gly1093=) n.3863G>T c.2331G>T (p.Gly777=) c.1821G>T (p.Gly607=) c.2277G>T (n.2277G>T) c.3675G>T (p.Gly1225=) c.3657G>T (p.Gly1219=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721512G>A	CA515262699	SHANK3	c.3280G>A (p.Ala1094Thr) n.3864G>A c.2332G>A (p.Ala778Thr) c.1822G>A (p.Ala608Thr) c.2278G>A (n.2278G>A) c.3676G>A (p.Ala1226Thr) c.3658G>A (p.Ala1220Thr)	dbSNP gnomAD v4
22	g.50721512G>C	CA515262700	SHANK3	c.3280G>C (p.Ala1094Pro) n.3864G>C c.2332G>C (p.Ala778Pro) c.1822G>C (p.Ala608Pro) c.2278G>C (n.2278G>C) c.3676G>C (p.Ala1226Pro) c.3658G>C (p.Ala1220Pro)
22	g.50721512G=	CA2411008293	SHANK3	c.3280G= (p.Ala1094=) n.3864G= c.2332G= (p.Ala778=) c.1822G= (p.Ala608=) c.2278G= (n.2278G=) c.3676G= (p.Ala1226=) c.3658G= (p.Ala1220=)
22	g.50721512G>T	CA515262701	SHANK3	c.3280G>T (p.Ala1094Ser) n.3864G>T c.2332G>T (p.Ala778Ser) c.1822G>T (p.Ala608Ser) c.2278G>T (n.2278G>T) c.3676G>T (p.Ala1226Ser) c.3658G>T (p.Ala1220Ser)	gnomAD v4
22	g.50721513C>A	CA515262707	SHANK3	c.3281C>A (p.Ala1094Asp) n.3865C>A c.2333C>A (p.Ala778Asp) c.1823C>A (p.Ala608Asp) c.2279C>A (n.2279C>A) c.3677C>A (p.Ala1226Asp) c.3659C>A (p.Ala1220Asp)
22	g.50721513C=	CA2411008294	SHANK3	c.3281C= (p.Ala1094=) n.3865C= c.2333C= (p.Ala778=) c.1823C= (p.Ala608=) c.2279C= (n.2279C=) c.3677C= (p.Ala1226=) c.3659C= (p.Ala1220=)
22	g.50721513C>G	CA515262703	SHANK3	c.3281C>G (p.Ala1094Gly) n.3865C>G c.2333C>G (p.Ala778Gly) c.1823C>G (p.Ala608Gly) c.2279C>G (n.2279C>G) c.3677C>G (p.Ala1226Gly) c.3659C>G (p.Ala1220Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721513C>T	CA515262705	SHANK3	c.3281C>T (p.Ala1094Val) n.3865C>T c.2333C>T (p.Ala778Val) c.1823C>T (p.Ala608Val) c.2279C>T (n.2279C>T) c.3677C>T (p.Ala1226Val) c.3659C>T (p.Ala1220Val)	gnomAD v4
22	g.50721514C>A	CA515262708	SHANK3	c.3282C>A (p.Ala1094=) n.3866C>A c.2334C>A (p.Ala778=) c.1824C>A (p.Ala608=) c.2280C>A (n.2280C>A) c.3678C>A (p.Ala1226=) c.3660C>A (p.Ala1220=)	gnomAD v4
22	g.50721514C=	CA2411008295	SHANK3	c.3282C= (p.Ala1094=) n.3866C= c.2334C= (p.Ala778=) c.1824C= (p.Ala608=) c.2280C= (n.2280C=) c.3678C= (p.Ala1226=) c.3660C= (p.Ala1220=)
22	g.50721514C>G	CA515262709	SHANK3	c.3282C>G (p.Ala1094=) n.3866C>G c.2334C>G (p.Ala778=) c.1824C>G (p.Ala608=) c.2280C>G (n.2280C>G) c.3678C>G (p.Ala1226=) c.3660C>G (p.Ala1220=)
22	g.50721514C>T	CA515262710	SHANK3	c.3282C>T (p.Ala1094=) n.3866C>T c.2334C>T (p.Ala778=) c.1824C>T (p.Ala608=) c.2280C>T (n.2280C>T) c.3678C>T (p.Ala1226=) c.3660C>T (p.Ala1220=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721515G>A	CA10326107	SHANK3	c.3283G>A (p.Glu1095Lys) n.3867G>A c.2335G>A (p.Glu779Lys) c.1825G>A (p.Glu609Lys) c.2281G>A (n.2281G>A) c.3679G>A (p.Glu1227Lys) c.3661G>A (p.Glu1221Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721515G>C	CA515262711	SHANK3	c.3283G>C (p.Glu1095Gln) n.3867G>C c.2335G>C (p.Glu779Gln) c.1825G>C (p.Glu609Gln) c.2281G>C (n.2281G>C) c.3679G>C (p.Glu1227Gln) c.3661G>C (p.Glu1221Gln)
22	g.50721515G=	CA2411008296	SHANK3	c.3283G= (p.Glu1095=) n.3867G= c.2335G= (p.Glu779=) c.1825G= (p.Glu609=) c.2281G= (n.2281G=) c.3679G= (p.Glu1227=) c.3661G= (p.Glu1221=)
22	g.50721515G>T	CA515262712	SHANK3	c.3283G>T (p.Glu1095Ter) n.3867G>T c.2335G>T (p.Glu779Ter) c.1825G>T (p.Glu609Ter) c.2281G>T (n.2281G>T) c.3679G>T (p.Glu1227Ter) c.3661G>T (p.Glu1221Ter)	ClinVar dbSNP gnomAD v4
22	g.50721516A>C	CA515262713	SHANK3	c.3284A>C (p.Glu1095Ala) n.3868A>C c.2336A>C (p.Glu779Ala) c.1826A>C (p.Glu609Ala) c.2282A>C (n.2282A>C) c.3680A>C (p.Glu1227Ala) c.3662A>C (p.Glu1221Ala)
22	g.50721516A>G	CA515262714	SHANK3	c.3284A>G (p.Glu1095Gly) n.3868A>G c.2336A>G (p.Glu779Gly) c.1826A>G (p.Glu609Gly) c.2282A>G (n.2282A>G) c.3680A>G (p.Glu1227Gly) c.3662A>G (p.Glu1221Gly)
22	g.50721516A>T	CA515262717	SHANK3	c.3284A>T (p.Glu1095Val) n.3868A>T c.2336A>T (p.Glu779Val) c.1826A>T (p.Glu609Val) c.2282A>T (n.2282A>T) c.3680A>T (p.Glu1227Val) c.3662A>T (p.Glu1221Val)
22	g.50721517A=	CA2411008298	SHANK3	c.3285A= (p.Glu1095=) n.3869A= c.2337A= (p.Glu779=) c.1827A= (p.Glu609=) c.2283A= (n.2283A=) c.3681A= (p.Glu1227=) c.3663A= (p.Glu1221=)
22	g.50721517A>C	CA515262718	SHANK3	c.3285A>C (p.Glu1095Asp) n.3869A>C c.2337A>C (p.Glu779Asp) c.1827A>C (p.Glu609Asp) c.2283A>C (n.2283A>C) c.3681A>C (p.Glu1227Asp) c.3663A>C (p.Glu1221Asp)
22	g.50721517A>G	CA515262719	SHANK3	c.3285A>G (p.Glu1095=) n.3869A>G c.2337A>G (p.Glu779=) c.1827A>G (p.Glu609=) c.2283A>G (n.2283A>G) c.3681A>G (p.Glu1227=) c.3663A>G (p.Glu1221=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721517A>T	CA515262720	SHANK3	c.3285A>T (p.Glu1095Asp) n.3869A>T c.2337A>T (p.Glu779Asp) c.1827A>T (p.Glu609Asp) c.2283A>T (n.2283A>T) c.3681A>T (p.Glu1227Asp) c.3663A>T (p.Glu1221Asp)	gnomAD v4
22	g.50721517_50721520delinsAGAG	CA2411008297	SHANK3	c.3285_3288delinsAGAG (p.Glu1095=) n.3869_3872delinsAGAG c.2337_2340delinsAGAG (p.Glu779=) c.1827_1830delinsAGAG (p.Glu609=) c.2283_2286delinsAGAG (n.2283_2286delinsAGAG) c.3681_3684delinsAGAG (p.Glu1227=) c.3663_3666delinsAGAG (p.Glu1221=)
22	g.50721518G>A	CA515262723	SHANK3	c.3286G>A (p.Glu1096Lys) n.3870G>A c.2338G>A (p.Glu780Lys) c.1828G>A (p.Glu610Lys) c.2284G>A (n.2284G>A) c.3682G>A (p.Glu1228Lys) c.3664G>A (p.Glu1222Lys)	dbSNP gnomAD v4
22	g.50721518G>C	CA515262724	SHANK3	c.3286G>C (p.Glu1096Gln) n.3870G>C c.2338G>C (p.Glu780Gln) c.1828G>C (p.Glu610Gln) c.2284G>C (n.2284G>C) c.3682G>C (p.Glu1228Gln) c.3664G>C (p.Glu1222Gln)
22	g.50721518G=	CA2411008299	SHANK3	c.3286G= (p.Glu1096=) n.3870G= c.2338G= (p.Glu780=) c.1828G= (p.Glu610=) c.2284G= (n.2284G=) c.3682G= (p.Glu1228=) c.3664G= (p.Glu1222=)
22	g.50721518G>T	CA515262722	SHANK3	c.3286G>T (p.Glu1096Ter) n.3870G>T c.2338G>T (p.Glu780Ter) c.1828G>T (p.Glu610Ter) c.2284G>T (n.2284G>T) c.3682G>T (p.Glu1228Ter) c.3664G>T (p.Glu1222Ter)	gnomAD v4
22	g.50721521_50721523del	CA10326108	SHANK3	c.3289_3291del (p.Glu1097del) n.3873_3875del c.2341_2343del (p.Glu781del) c.1831_1833del (p.Glu611del) c.2287_2289del (n.2287_2289del) c.3685_3687del (p.Glu1229del) c.3667_3669del (p.Glu1223del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721519A>C	CA515262727	SHANK3	c.3287A>C (p.Glu1096Ala) n.3871A>C c.2339A>C (p.Glu780Ala) c.1829A>C (p.Glu610Ala) c.2285A>C (n.2285A>C) c.3683A>C (p.Glu1228Ala) c.3665A>C (p.Glu1222Ala)
22	g.50721519A>G	CA515262725	SHANK3	c.3287A>G (p.Glu1096Gly) n.3871A>G c.2339A>G (p.Glu780Gly) c.1829A>G (p.Glu610Gly) c.2285A>G (n.2285A>G) c.3683A>G (p.Glu1228Gly) c.3665A>G (p.Glu1222Gly)
22	g.50721519A>T	CA515262729	SHANK3	c.3287A>T (p.Glu1096Val) n.3871A>T c.2339A>T (p.Glu780Val) c.1829A>T (p.Glu610Val) c.2285A>T (n.2285A>T) c.3683A>T (p.Glu1228Val) c.3665A>T (p.Glu1222Val)
22	g.50721520G>A	CA515262730	SHANK3	c.3288G>A (p.Glu1096=) n.3872G>A c.2340G>A (p.Glu780=) c.1830G>A (p.Glu610=) c.2286G>A (n.2286G>A) c.3684G>A (p.Glu1228=) c.3666G>A (p.Glu1222=)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50721520G>C	CA515262732	SHANK3	c.3288G>C (p.Glu1096Asp) n.3872G>C c.2340G>C (p.Glu780Asp) c.1830G>C (p.Glu610Asp) c.2286G>C (n.2286G>C) c.3684G>C (p.Glu1228Asp) c.3666G>C (p.Glu1222Asp)
22	g.50721520G=	CA2411008300	SHANK3	c.3288G= (p.Glu1096=) n.3872G= c.2340G= (p.Glu780=) c.1830G= (p.Glu610=) c.2286G= (n.2286G=) c.3684G= (p.Glu1228=) c.3666G= (p.Glu1222=)
22	g.50721520G>T	CA515262733	SHANK3	c.3288G>T (p.Glu1096Asp) n.3872G>T c.2340G>T (p.Glu780Asp) c.1830G>T (p.Glu610Asp) c.2286G>T (n.2286G>T) c.3684G>T (p.Glu1228Asp) c.3666G>T (p.Glu1222Asp)	gnomAD v4
22	g.50721521G>A	CA515262734	SHANK3	c.3289G>A (p.Glu1097Lys) n.3873G>A c.2341G>A (p.Glu781Lys) c.1831G>A (p.Glu611Lys) c.2287G>A (n.2287G>A) c.3685G>A (p.Glu1229Lys) c.3667G>A (p.Glu1223Lys)	gnomAD v4
22	g.50721521G>C	CA515262735	SHANK3	c.3289G>C (p.Glu1097Gln) n.3873G>C c.2341G>C (p.Glu781Gln) c.1831G>C (p.Glu611Gln) c.2287G>C (n.2287G>C) c.3685G>C (p.Glu1229Gln) c.3667G>C (p.Glu1223Gln)
22	g.50721521G>T	CA515262736	SHANK3	c.3289G>T (p.Glu1097Ter) n.3873G>T c.2341G>T (p.Glu781Ter) c.1831G>T (p.Glu611Ter) c.2287G>T (n.2287G>T) c.3685G>T (p.Glu1229Ter) c.3667G>T (p.Glu1223Ter)	gnomAD v4
22	g.50721522A>C	CA515262737	SHANK3	c.3290A>C (p.Glu1097Ala) n.3874A>C c.2342A>C (p.Glu781Ala) c.1832A>C (p.Glu611Ala) c.2288A>C (n.2288A>C) c.3686A>C (p.Glu1229Ala) c.3668A>C (p.Glu1223Ala)
22	g.50721522A>G	CA515262738	SHANK3	c.3290A>G (p.Glu1097Gly) n.3874A>G c.2342A>G (p.Glu781Gly) c.1832A>G (p.Glu611Gly) c.2288A>G (n.2288A>G) c.3686A>G (p.Glu1229Gly) c.3668A>G (p.Glu1223Gly)
22	g.50721522A>T	CA515262740	SHANK3	c.3290A>T (p.Glu1097Val) n.3874A>T c.2342A>T (p.Glu781Val) c.1832A>T (p.Glu611Val) c.2288A>T (n.2288A>T) c.3686A>T (p.Glu1229Val) c.3668A>T (p.Glu1223Val)	gnomAD v4
22	g.50721523G>A	CA515262741	SHANK3	c.3291G>A (p.Glu1097=) n.3875G>A c.2343G>A (p.Glu781=) c.1833G>A (p.Glu611=) c.2289G>A (n.2289G>A) c.3687G>A (p.Glu1229=) c.3669G>A (p.Glu1223=)
22	g.50721523G>C	CA515262742	SHANK3	c.3291G>C (p.Glu1097Asp) n.3875G>C c.2343G>C (p.Glu781Asp) c.1833G>C (p.Glu611Asp) c.2289G>C (n.2289G>C) c.3687G>C (p.Glu1229Asp) c.3669G>C (p.Glu1223Asp)
22	g.50721523G>T	CA515262743	SHANK3	c.3291G>T (p.Glu1097Asp) n.3875G>T c.2343G>T (p.Glu781Asp) c.1833G>T (p.Glu611Asp) c.2289G>T (n.2289G>T) c.3687G>T (p.Glu1229Asp) c.3669G>T (p.Glu1223Asp)
22	g.50721524C>A	CA515262747	SHANK3	c.3292C>A (p.Arg1098Ser) n.3876C>A c.2344C>A (p.Arg782Ser) c.1834C>A (p.Arg612Ser) c.2290C>A (n.2290C>A) c.3688C>A (p.Arg1230Ser) c.3670C>A (p.Arg1224Ser)
22	g.50721524C=	CA2411008301	SHANK3	c.3292C= (p.Arg1098=) n.3876C= c.2344C= (p.Arg782=) c.1834C= (p.Arg612=) c.2290C= (n.2290C=) c.3688C= (p.Arg1230=) c.3670C= (p.Arg1224=)
22	g.50721524C>G	CA10326109	SHANK3	c.3292C>G (p.Arg1098Gly) n.3876C>G c.2344C>G (p.Arg782Gly) c.1834C>G (p.Arg612Gly) c.2290C>G (n.2290C>G) c.3688C>G (p.Arg1230Gly) c.3670C>G (p.Arg1224Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721524C>T	CA515262744	SHANK3	c.3292C>T (p.Arg1098Cys) n.3876C>T c.2344C>T (p.Arg782Cys) c.1834C>T (p.Arg612Cys) c.2290C>T (n.2290C>T) c.3688C>T (p.Arg1230Cys) c.3670C>T (p.Arg1224Cys)	dbSNP gnomAD v2 gnomAD v4
22	g.50721525G>A	CA10326110	SHANK3	c.3293G>A (p.Arg1098His) n.3877G>A c.2345G>A (p.Arg782His) c.1835G>A (p.Arg612His) c.2291G>A (n.2291G>A) c.3689G>A (p.Arg1230His) c.3671G>A (p.Arg1224His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721525G>C	CA515262748	SHANK3	c.3293G>C (p.Arg1098Pro) n.3877G>C c.2345G>C (p.Arg782Pro) c.1835G>C (p.Arg612Pro) c.2291G>C (n.2291G>C) c.3689G>C (p.Arg1230Pro) c.3671G>C (p.Arg1224Pro)	gnomAD v4
22	g.50721525G=	CA2411008302	SHANK3	c.3293G= (p.Arg1098=) n.3877G= c.2345G= (p.Arg782=) c.1835G= (p.Arg612=) c.2291G= (n.2291G=) c.3689G= (p.Arg1230=) c.3671G= (p.Arg1224=)
22	g.50721525G>T	CA515262750	SHANK3	c.3293G>T (p.Arg1098Leu) n.3877G>T c.2345G>T (p.Arg782Leu) c.1835G>T (p.Arg612Leu) c.2291G>T (n.2291G>T) c.3689G>T (p.Arg1230Leu) c.3671G>T (p.Arg1224Leu)	dbSNP gnomAD v3 gnomAD v4
22	g.50721526C>A	CA515262751	SHANK3	c.3294C>A (p.Arg1098=) n.3878C>A c.2346C>A (p.Arg782=) c.1836C>A (p.Arg612=) c.2292C>A (n.2292C>A) c.3690C>A (p.Arg1230=) c.3672C>A (p.Arg1224=)
22	g.50721526C=	CA2411008303	SHANK3	c.3294C= (p.Arg1098=) n.3878C= c.2346C= (p.Arg782=) c.1836C= (p.Arg612=) c.2292C= (n.2292C=) c.3690C= (p.Arg1230=) c.3672C= (p.Arg1224=)
22	g.50721526C>G	CA515262752	SHANK3	c.3294C>G (p.Arg1098=) n.3878C>G c.2346C>G (p.Arg782=) c.1836C>G (p.Arg612=) c.2292C>G (n.2292C>G) c.3690C>G (p.Arg1230=) c.3672C>G (p.Arg1224=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721526C>T	CA515262753	SHANK3	c.3294C>T (p.Arg1098=) n.3878C>T c.2346C>T (p.Arg782=) c.1836C>T (p.Arg612=) c.2292C>T (n.2292C>T) c.3690C>T (p.Arg1230=) c.3672C>T (p.Arg1224=)	dbSNP gnomAD v4
22	g.50721531_50721551dup	CA2657581049	SHANK3	c.3299_3319dup (p.Pro1106_Ala1107insGlyThrProGluLeuAlaPro) n.3883_3903dup c.2351_2371dup (p.Pro790_Ala791insGlyThrProGluLeuAlaPro) c.1841_1861dup (p.Pro620_Ala621insGlyThrProGluLeuAlaPro) c.2297_2317dup (n.2297_2317dup) c.3695_3715dup (p.Pro1238_Ala1239insGlyThrProGluLeuAlaPro) c.3677_3697dup (p.Pro1232_Ala1233insGlyThrProGluLeuAlaPro)	gnomAD v4
22	g.50721527C>A	CA515262754	SHANK3	c.3295C>A (p.Pro1099Thr) n.3879C>A c.2347C>A (p.Pro783Thr) c.1837C>A (p.Pro613Thr) c.2293C>A (n.2293C>A) c.3691C>A (p.Pro1231Thr) c.3673C>A (p.Pro1225Thr)	gnomAD v4
22	g.50721527C>G	CA515262755	SHANK3	c.3295C>G (p.Pro1099Ala) n.3879C>G c.2347C>G (p.Pro783Ala) c.1837C>G (p.Pro613Ala) c.2293C>G (n.2293C>G) c.3691C>G (p.Pro1231Ala) c.3673C>G (p.Pro1225Ala)	gnomAD v4
22	g.50721527C>T	CA515262756	SHANK3	c.3295C>T (p.Pro1099Ser) n.3879C>T c.2347C>T (p.Pro783Ser) c.1837C>T (p.Pro613Ser) c.2293C>T (n.2293C>T) c.3691C>T (p.Pro1231Ser) c.3673C>T (p.Pro1225Ser)	gnomAD v4
22	g.50721528C>A	CA515262757	SHANK3	c.3296C>A (p.Pro1099Gln) n.3880C>A c.2348C>A (p.Pro783Gln) c.1838C>A (p.Pro613Gln) c.2294C>A (n.2294C>A) c.3692C>A (p.Pro1231Gln) c.3674C>A (p.Pro1225Gln)
22	g.50721528C=	CA2411008304	SHANK3	c.3296C= (p.Pro1099=) n.3880C= c.2348C= (p.Pro783=) c.1838C= (p.Pro613=) c.2294C= (n.2294C=) c.3692C= (p.Pro1231=) c.3674C= (p.Pro1225=)
22	g.50721528C>G	CA515262758	SHANK3	c.3296C>G (p.Pro1099Arg) n.3880C>G c.2348C>G (p.Pro783Arg) c.1838C>G (p.Pro613Arg) c.2294C>G (n.2294C>G) c.3692C>G (p.Pro1231Arg) c.3674C>G (p.Pro1225Arg)
22	g.50721528C>T	CA10326111	SHANK3	c.3296C>T (p.Pro1099Leu) n.3880C>T c.2348C>T (p.Pro783Leu) c.1838C>T (p.Pro613Leu) c.2294C>T (n.2294C>T) c.3692C>T (p.Pro1231Leu) c.3674C>T (p.Pro1225Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721529G>A	CA10326112	SHANK3	c.3297G>A (p.Pro1099=) n.3881G>A c.2349G>A (p.Pro783=) c.1839G>A (p.Pro613=) c.2295G>A (n.2295G>A) c.3693G>A (p.Pro1231=) c.3675G>A (p.Pro1225=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721529G>C	CA515262761	SHANK3	c.3297G>C (p.Pro1099=) n.3881G>C c.2349G>C (p.Pro783=) c.1839G>C (p.Pro613=) c.2295G>C (n.2295G>C) c.3693G>C (p.Pro1231=) c.3675G>C (p.Pro1225=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721529G=	CA2411008305	SHANK3	c.3297G= (p.Pro1099=) n.3881G= c.2349G= (p.Pro783=) c.1839G= (p.Pro613=) c.2295G= (n.2295G=) c.3693G= (p.Pro1231=) c.3675G= (p.Pro1225=)
22	g.50721529G>T	CA515262760	SHANK3	c.3297G>T (p.Pro1099=) n.3881G>T c.2349G>T (p.Pro783=) c.1839G>T (p.Pro613=) c.2295G>T (n.2295G>T) c.3693G>T (p.Pro1231=) c.3675G>T (p.Pro1225=)	gnomAD v4
22	g.50721530G>A	CA515262762	SHANK3	c.3298G>A (p.Gly1100Ser) n.3882G>A c.2350G>A (p.Gly784Ser) c.1840G>A (p.Gly614Ser) c.2296G>A (n.2296G>A) c.3694G>A (p.Gly1232Ser) c.3676G>A (p.Gly1226Ser)
22	g.50721530G>C	CA515262763	SHANK3	c.3298G>C (p.Gly1100Arg) n.3882G>C c.2350G>C (p.Gly784Arg) c.1840G>C (p.Gly614Arg) c.2296G>C (n.2296G>C) c.3694G>C (p.Gly1232Arg) c.3676G>C (p.Gly1226Arg)
22	g.50721530G>T	CA515262764	SHANK3	c.3298G>T (p.Gly1100Cys) n.3882G>T c.2350G>T (p.Gly784Cys) c.1840G>T (p.Gly614Cys) c.2296G>T (n.2296G>T) c.3694G>T (p.Gly1232Cys) c.3676G>T (p.Gly1226Cys)
22	g.50721531G>A	CA515262765	SHANK3	c.3299G>A (p.Gly1100Asp) n.3883G>A c.2351G>A (p.Gly784Asp) c.1841G>A (p.Gly614Asp) c.2297G>A (n.2297G>A) c.3695G>A (p.Gly1232Asp) c.3677G>A (p.Gly1226Asp)	dbSNP gnomAD v2 gnomAD v4
22	g.50721531G>C	CA515262766	SHANK3	c.3299G>C (p.Gly1100Ala) n.3883G>C c.2351G>C (p.Gly784Ala) c.1841G>C (p.Gly614Ala) c.2297G>C (n.2297G>C) c.3695G>C (p.Gly1232Ala) c.3677G>C (p.Gly1226Ala)
22	g.50721531G=	CA2411008306	SHANK3	c.3299G= (p.Gly1100=) n.3883G= c.2351G= (p.Gly784=) c.1841G= (p.Gly614=) c.2297G= (n.2297G=) c.3695G= (p.Gly1232=) c.3677G= (p.Gly1226=)
22	g.50721531G>T	CA515262767	SHANK3	c.3299G>T (p.Gly1100Val) n.3883G>T c.2351G>T (p.Gly784Val) c.1841G>T (p.Gly614Val) c.2297G>T (n.2297G>T) c.3695G>T (p.Gly1232Val) c.3677G>T (p.Gly1226Val)
22	g.50721532C>A	CA515262769	SHANK3	c.3300C>A (p.Gly1100=) n.3884C>A c.2352C>A (p.Gly784=) c.1842C>A (p.Gly614=) c.2298C>A (n.2298C>A) c.3696C>A (p.Gly1232=) c.3678C>A (p.Gly1226=)
22	g.50721532C=	CA2411008307	SHANK3	c.3300C= (p.Gly1100=) n.3884C= c.2352C= (p.Gly784=) c.1842C= (p.Gly614=) c.2298C= (n.2298C=) c.3696C= (p.Gly1232=) c.3678C= (p.Gly1226=)
22	g.50721532C>G	CA515262771	SHANK3	c.3300C>G (p.Gly1100=) n.3884C>G c.2352C>G (p.Gly784=) c.1842C>G (p.Gly614=) c.2298C>G (n.2298C>G) c.3696C>G (p.Gly1232=) c.3678C>G (p.Gly1226=)
22	g.50721532C>T	CA515262772	SHANK3	c.3300C>T (p.Gly1100=) n.3884C>T c.2352C>T (p.Gly784=) c.1842C>T (p.Gly614=) c.2298C>T (n.2298C>T) c.3696C>T (p.Gly1232=) c.3678C>T (p.Gly1226=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721533A=	CA2411008308	SHANK3	c.3301A= (p.Thr1101=) n.3885A= c.2353A= (p.Thr785=) c.1843A= (p.Thr615=) c.2299A= (n.2299A=) c.3697A= (p.Thr1233=) c.3679A= (p.Thr1227=)
22	g.50721533A>C	CA515262773	SHANK3	c.3301A>C (p.Thr1101Pro) n.3885A>C c.2353A>C (p.Thr785Pro) c.1843A>C (p.Thr615Pro) c.2299A>C (n.2299A>C) c.3697A>C (p.Thr1233Pro) c.3679A>C (p.Thr1227Pro)
22	g.50721533A>G	CA10326113	SHANK3	c.3301A>G (p.Thr1101Ala) n.3885A>G c.2353A>G (p.Thr785Ala) c.1843A>G (p.Thr615Ala) c.2299A>G (n.2299A>G) c.3697A>G (p.Thr1233Ala) c.3679A>G (p.Thr1227Ala)	dbSNP ExAC gnomAD v2
22	g.50721533A>T	CA515262774	SHANK3	c.3301A>T (p.Thr1101Ser) n.3885A>T c.2353A>T (p.Thr785Ser) c.1843A>T (p.Thr615Ser) c.2299A>T (n.2299A>T) c.3697A>T (p.Thr1233Ser) c.3679A>T (p.Thr1227Ser)
22	g.50721534C>A	CA515262777	SHANK3	c.3302C>A (p.Thr1101Asn) n.3886C>A c.2354C>A (p.Thr785Asn) c.1844C>A (p.Thr615Asn) c.2300C>A (n.2300C>A) c.3698C>A (p.Thr1233Asn) c.3680C>A (p.Thr1227Asn)
22	g.50721534C>G	CA515262776	SHANK3	c.3302C>G (p.Thr1101Ser) n.3886C>G c.2354C>G (p.Thr785Ser) c.1844C>G (p.Thr615Ser) c.2300C>G (n.2300C>G) c.3698C>G (p.Thr1233Ser) c.3680C>G (p.Thr1227Ser)
22	g.50721534C>T	CA515262775	SHANK3	c.3302C>T (p.Thr1101Ile) n.3886C>T c.2354C>T (p.Thr785Ile) c.1844C>T (p.Thr615Ile) c.2300C>T (n.2300C>T) c.3698C>T (p.Thr1233Ile) c.3680C>T (p.Thr1227Ile)	gnomAD v4
22	g.50721535C>A	CA515262778	SHANK3	c.3303C>A (p.Thr1101=) n.3887C>A c.2355C>A (p.Thr785=) c.1845C>A (p.Thr615=) c.2301C>A (n.2301C>A) c.3699C>A (p.Thr1233=) c.3681C>A (p.Thr1227=)	gnomAD v4
22	g.50721535C=	CA2411008309	SHANK3	c.3303C= (p.Thr1101=) n.3887C= c.2355C= (p.Thr785=) c.1845C= (p.Thr615=) c.2301C= (n.2301C=) c.3699C= (p.Thr1233=) c.3681C= (p.Thr1227=)
22	g.50721535C>G	CA515262779	SHANK3	c.3303C>G (p.Thr1101=) n.3887C>G c.2355C>G (p.Thr785=) c.1845C>G (p.Thr615=) c.2301C>G (n.2301C>G) c.3699C>G (p.Thr1233=) c.3681C>G (p.Thr1227=)
22	g.50721535C>T	CA325579375	SHANK3	c.3303C>T (p.Thr1101=) n.3887C>T c.2355C>T (p.Thr785=) c.1845C>T (p.Thr615=) c.2301C>T (n.2301C>T) c.3699C>T (p.Thr1233=) c.3681C>T (p.Thr1227=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721536C>A	CA515262780	SHANK3	c.3304C>A (p.Pro1102Thr) n.3888C>A c.2356C>A (p.Pro786Thr) c.1846C>A (p.Pro616Thr) c.2302C>A (n.2302C>A) c.3700C>A (p.Pro1234Thr) c.3682C>A (p.Pro1228Thr)
22	g.50721536C=	CA2411008310	SHANK3	c.3304C= (p.Pro1102=) n.3888C= c.2356C= (p.Pro786=) c.1846C= (p.Pro616=) c.2302C= (n.2302C=) c.3700C= (p.Pro1234=) c.3682C= (p.Pro1228=)
22	g.50721536C>G	CA515262781	SHANK3	c.3304C>G (p.Pro1102Ala) n.3888C>G c.2356C>G (p.Pro786Ala) c.1846C>G (p.Pro616Ala) c.2302C>G (n.2302C>G) c.3700C>G (p.Pro1234Ala) c.3682C>G (p.Pro1228Ala)
22	g.50721536C>T	CA325579379	SHANK3	c.3304C>T (p.Pro1102Ser) n.3888C>T c.2356C>T (p.Pro786Ser) c.1846C>T (p.Pro616Ser) c.2302C>T (n.2302C>T) c.3700C>T (p.Pro1234Ser) c.3682C>T (p.Pro1228Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721537C>A	CA10326114	SHANK3	c.3305C>A (p.Pro1102Gln) n.3889C>A c.2357C>A (p.Pro786Gln) c.1847C>A (p.Pro616Gln) c.2303C>A (n.2303C>A) c.3701C>A (p.Pro1234Gln) c.3683C>A (p.Pro1228Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721537C=	CA2411008311	SHANK3	c.3305C= (p.Pro1102=) n.3889C= c.2357C= (p.Pro786=) c.1847C= (p.Pro616=) c.2303C= (n.2303C=) c.3701C= (p.Pro1234=) c.3683C= (p.Pro1228=)
22	g.50721537C>G	CA515262782	SHANK3	c.3305C>G (p.Pro1102Arg) n.3889C>G c.2357C>G (p.Pro786Arg) c.1847C>G (p.Pro616Arg) c.2303C>G (n.2303C>G) c.3701C>G (p.Pro1234Arg) c.3683C>G (p.Pro1228Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.50721537C>T	CA515262783	SHANK3	c.3305C>T (p.Pro1102Leu) n.3889C>T c.2357C>T (p.Pro786Leu) c.1847C>T (p.Pro616Leu) c.2303C>T (n.2303C>T) c.3701C>T (p.Pro1234Leu) c.3683C>T (p.Pro1228Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721538G>A	CA515262784	SHANK3	c.3306G>A (p.Pro1102=) n.3890G>A c.2358G>A (p.Pro786=) c.1848G>A (p.Pro616=) c.2304G>A (n.2304G>A) c.3702G>A (p.Pro1234=) c.3684G>A (p.Pro1228=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721538G>C	CA515262785	SHANK3	c.3306G>C (p.Pro1102=) n.3890G>C c.2358G>C (p.Pro786=) c.1848G>C (p.Pro616=) c.2304G>C (n.2304G>C) c.3702G>C (p.Pro1234=) c.3684G>C (p.Pro1228=)
22	g.50721538G=	CA2411008312	SHANK3	c.3306G= (p.Pro1102=) n.3890G= c.2358G= (p.Pro786=) c.1848G= (p.Pro616=) c.2304G= (n.2304G=) c.3702G= (p.Pro1234=) c.3684G= (p.Pro1228=)
22	g.50721538G>T	CA515262786	SHANK3	c.3306G>T (p.Pro1102=) n.3890G>T c.2358G>T (p.Pro786=) c.1848G>T (p.Pro616=) c.2304G>T (n.2304G>T) c.3702G>T (p.Pro1234=) c.3684G>T (p.Pro1228=)	gnomAD v4
22	g.50721539G>A	CA515262789	SHANK3	c.3307G>A (p.Glu1103Lys) n.3891G>A c.2359G>A (p.Glu787Lys) c.1849G>A (p.Glu617Lys) c.2305G>A (n.2305G>A) c.3703G>A (p.Glu1235Lys) c.3685G>A (p.Glu1229Lys)
22	g.50721539G>C	CA515262788	SHANK3	c.3307G>C (p.Glu1103Gln) n.3891G>C c.2359G>C (p.Glu787Gln) c.1849G>C (p.Glu617Gln) c.2305G>C (n.2305G>C) c.3703G>C (p.Glu1235Gln) c.3685G>C (p.Glu1229Gln)	dbSNP
22	g.50721539G>T	CA515262787	SHANK3	c.3307G>T (p.Glu1103Ter) n.3891G>T c.2359G>T (p.Glu787Ter) c.1849G>T (p.Glu617Ter) c.2305G>T (n.2305G>T) c.3703G>T (p.Glu1235Ter) c.3685G>T (p.Glu1229Ter)
22	g.50721540A>C	CA515262791	SHANK3	c.3308A>C (p.Glu1103Ala) n.3892A>C c.2360A>C (p.Glu787Ala) c.1850A>C (p.Glu617Ala) c.2306A>C (n.2306A>C) c.3704A>C (p.Glu1235Ala) c.3686A>C (p.Glu1229Ala)
22	g.50721540A>G	CA515262792	SHANK3	c.3308A>G (p.Glu1103Gly) n.3892A>G c.2360A>G (p.Glu787Gly) c.1850A>G (p.Glu617Gly) c.2306A>G (n.2306A>G) c.3704A>G (p.Glu1235Gly) c.3686A>G (p.Glu1229Gly)
22	g.50721540A>T	CA515262793	SHANK3	c.3308A>T (p.Glu1103Val) n.3892A>T c.2360A>T (p.Glu787Val) c.1850A>T (p.Glu617Val) c.2306A>T (n.2306A>T) c.3704A>T (p.Glu1235Val) c.3686A>T (p.Glu1229Val)
22	g.50721541G>A	CA515262794	SHANK3	c.3309G>A (p.Glu1103=) n.3893G>A c.2361G>A (p.Glu787=) c.1851G>A (p.Glu617=) c.2307G>A (n.2307G>A) c.3705G>A (p.Glu1235=) c.3687G>A (p.Glu1229=)	gnomAD v4
22	g.50721541G>C	CA515262795	SHANK3	c.3309G>C (p.Glu1103Asp) n.3893G>C c.2361G>C (p.Glu787Asp) c.1851G>C (p.Glu617Asp) c.2307G>C (n.2307G>C) c.3705G>C (p.Glu1235Asp) c.3687G>C (p.Glu1229Asp)
22	g.50721541G>T	CA515262796	SHANK3	c.3309G>T (p.Glu1103Asp) n.3893G>T c.2361G>T (p.Glu787Asp) c.1851G>T (p.Glu617Asp) c.2307G>T (n.2307G>T) c.3705G>T (p.Glu1235Asp) c.3687G>T (p.Glu1229Asp)
22	g.50721542T>A	CA515262799	SHANK3	c.3310T>A (p.Leu1104Met) n.3894T>A c.2362T>A (p.Leu788Met) c.1852T>A (p.Leu618Met) c.2308T>A (n.2308T>A) c.3706T>A (p.Leu1236Met) c.3688T>A (p.Leu1230Met)
22	g.50721542T>C	CA515262798	SHANK3	c.3310T>C (p.Leu1104=) n.3894T>C c.2362T>C (p.Leu788=) c.1852T>C (p.Leu618=) c.2308T>C (n.2308T>C) c.3706T>C (p.Leu1236=) c.3688T>C (p.Leu1230=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721542T>G	CA515262797	SHANK3	c.3310T>G (p.Leu1104Val) n.3894T>G c.2362T>G (p.Leu788Val) c.1852T>G (p.Leu618Val) c.2308T>G (n.2308T>G) c.3706T>G (p.Leu1236Val) c.3688T>G (p.Leu1230Val)
22	g.50721542T=	CA2411008313	SHANK3	c.3310T= (p.Leu1104=) n.3894T= c.2362T= (p.Leu788=) c.1852T= (p.Leu618=) c.2308T= (n.2308T=) c.3706T= (p.Leu1236=) c.3688T= (p.Leu1230=)
22	g.50721543T>A	CA515262800	SHANK3	c.3311T>A (p.Leu1104Ter) n.3895T>A c.2363T>A (p.Leu788Ter) c.1853T>A (p.Leu618Ter) c.2309T>A (n.2309T>A) c.3707T>A (p.Leu1236Ter) c.3689T>A (p.Leu1230Ter)	gnomAD v4
22	g.50721543T>C	CA515262801	SHANK3	c.3311T>C (p.Leu1104Ser) n.3895T>C c.2363T>C (p.Leu788Ser) c.1853T>C (p.Leu618Ser) c.2309T>C (n.2309T>C) c.3707T>C (p.Leu1236Ser) c.3689T>C (p.Leu1230Ser)
22	g.50721543T>G	CA515262802	SHANK3	c.3311T>G (p.Leu1104Trp) n.3895T>G c.2363T>G (p.Leu788Trp) c.1853T>G (p.Leu618Trp) c.2309T>G (n.2309T>G) c.3707T>G (p.Leu1236Trp) c.3689T>G (p.Leu1230Trp)
22	g.50721544G>A	CA515262803	SHANK3	c.3312G>A (p.Leu1104=) n.3896G>A c.2364G>A (p.Leu788=) c.1854G>A (p.Leu618=) c.2310G>A (n.2310G>A) c.3708G>A (p.Leu1236=) c.3690G>A (p.Leu1230=)
22	g.50721544G>C	CA515262805	SHANK3	c.3312G>C (p.Leu1104Phe) n.3896G>C c.2364G>C (p.Leu788Phe) c.1854G>C (p.Leu618Phe) c.2310G>C (n.2310G>C) c.3708G>C (p.Leu1236Phe) c.3690G>C (p.Leu1230Phe)
22	g.50721544G>T	CA515262807	SHANK3	c.3312G>T (p.Leu1104Phe) n.3896G>T c.2364G>T (p.Leu788Phe) c.1854G>T (p.Leu618Phe) c.2310G>T (n.2310G>T) c.3708G>T (p.Leu1236Phe) c.3690G>T (p.Leu1230Phe)
22	g.50721544_50721564dup	CA2657581051	SHANK3	c.3312_3332dup (p.Ser1111_Ala1112insAlaProAlaProMetGlnSer) n.3896_3916dup c.2364_2384dup (p.Ser795_Ala796insAlaProAlaProMetGlnSer) c.1854_1874dup (p.Ser625_Ala626insAlaProAlaProMetGlnSer) c.2310_2330dup (n.2310_2330dup) c.3708_3728dup (p.Ser1243_Ala1244insAlaProAlaProMetGlnSer) c.3690_3710dup (p.Ser1237_Ala1238insAlaProAlaProMetGlnSer)	gnomAD v4
22	g.50721545G>A	CA515262809	SHANK3	c.3313G>A (p.Ala1105Thr) n.3897G>A c.2365G>A (p.Ala789Thr) c.1855G>A (p.Ala619Thr) c.2311G>A (n.2311G>A) c.3709G>A (p.Ala1237Thr) c.3691G>A (p.Ala1231Thr)
22	g.50721545G>C	CA515262811	SHANK3	c.3313G>C (p.Ala1105Pro) n.3897G>C c.2365G>C (p.Ala789Pro) c.1855G>C (p.Ala619Pro) c.2311G>C (n.2311G>C) c.3709G>C (p.Ala1237Pro) c.3691G>C (p.Ala1231Pro)
22	g.50721545G=	CA2411008314	SHANK3	c.3313G= (p.Ala1105=) n.3897G= c.2365G= (p.Ala789=) c.1855G= (p.Ala619=) c.2311G= (n.2311G=) c.3709G= (p.Ala1237=) c.3691G= (p.Ala1231=)
22	g.50721545G>T	CA515262810	SHANK3	c.3313G>T (p.Ala1105Ser) n.3897G>T c.2365G>T (p.Ala789Ser) c.1855G>T (p.Ala619Ser) c.2311G>T (n.2311G>T) c.3709G>T (p.Ala1237Ser) c.3691G>T (p.Ala1231Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50721546C>A	CA515262812	SHANK3	c.3314C>A (p.Ala1105Asp) n.3898C>A c.2366C>A (p.Ala789Asp) c.1856C>A (p.Ala619Asp) c.2312C>A (n.2312C>A) c.3710C>A (p.Ala1237Asp) c.3692C>A (p.Ala1231Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721546C=	CA2411008315	SHANK3	c.3314C= (p.Ala1105=) n.3898C= c.2366C= (p.Ala789=) c.1856C= (p.Ala619=) c.2312C= (n.2312C=) c.3710C= (p.Ala1237=) c.3692C= (p.Ala1231=)
22	g.50721546C>G	CA515262813	SHANK3	c.3314C>G (p.Ala1105Gly) n.3898C>G c.2366C>G (p.Ala789Gly) c.1856C>G (p.Ala619Gly) c.2312C>G (n.2312C>G) c.3710C>G (p.Ala1237Gly) c.3692C>G (p.Ala1231Gly)
22	g.50721546C>T	CA10326115	SHANK3	c.3314C>T (p.Ala1105Val) n.3898C>T c.2366C>T (p.Ala789Val) c.1856C>T (p.Ala619Val) c.2312C>T (n.2312C>T) c.3710C>T (p.Ala1237Val) c.3692C>T (p.Ala1231Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22	g.50721549del	CA2657581052	SHANK3	c.3317del (p.Pro1106ArgfsTer?) n.3901del c.2369del (p.Pro790ArgfsTer?) c.1859del (p.Pro620ArgfsTer?) c.2315del (n.2315del) c.3713del (p.Pro1238ArgfsTer?) c.3695del (p.Pro1232ArgfsTer?)	gnomAD v4
22	g.50721547C>A	CA515262814	SHANK3	c.3315C>A (p.Ala1105=) n.3899C>A c.2367C>A (p.Ala789=) c.1857C>A (p.Ala619=) c.2313C>A (n.2313C>A) c.3711C>A (p.Ala1237=) c.3693C>A (p.Ala1231=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721547C=	CA2411008316	SHANK3	c.3315C= (p.Ala1105=) n.3899C= c.2367C= (p.Ala789=) c.1857C= (p.Ala619=) c.2313C= (n.2313C=) c.3711C= (p.Ala1237=) c.3693C= (p.Ala1231=)
22	g.50721547C>G	CA515262815	SHANK3	c.3315C>G (p.Ala1105=) n.3899C>G c.2367C>G (p.Ala789=) c.1857C>G (p.Ala619=) c.2313C>G (n.2313C>G) c.3711C>G (p.Ala1237=) c.3693C>G (p.Ala1231=)
22	g.50721547C>T	CA515262816	SHANK3	c.3315C>T (p.Ala1105=) n.3899C>T c.2367C>T (p.Ala789=) c.1857C>T (p.Ala619=) c.2313C>T (n.2313C>T) c.3711C>T (p.Ala1237=) c.3693C>T (p.Ala1231=)	dbSNP gnomAD v4
22	g.50721548C>A	CA515262817	SHANK3	c.3316C>A (p.Pro1106Thr) n.3900C>A c.2368C>A (p.Pro790Thr) c.1858C>A (p.Pro620Thr) c.2314C>A (n.2314C>A) c.3712C>A (p.Pro1238Thr) c.3694C>A (p.Pro1232Thr)
22	g.50721548C=	CA2411008317	SHANK3	c.3316C= (p.Pro1106=) n.3900C= c.2368C= (p.Pro790=) c.1858C= (p.Pro620=) c.2314C= (n.2314C=) c.3712C= (p.Pro1238=) c.3694C= (p.Pro1232=)
22	g.50721548C>G	CA515262819	SHANK3	c.3316C>G (p.Pro1106Ala) n.3900C>G c.2368C>G (p.Pro790Ala) c.1858C>G (p.Pro620Ala) c.2314C>G (n.2314C>G) c.3712C>G (p.Pro1238Ala) c.3694C>G (p.Pro1232Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721548C>T	CA515262821	SHANK3	c.3316C>T (p.Pro1106Ser) n.3900C>T c.2368C>T (p.Pro790Ser) c.1858C>T (p.Pro620Ser) c.2314C>T (n.2314C>T) c.3712C>T (p.Pro1238Ser) c.3694C>T (p.Pro1232Ser)	dbSNP gnomAD v4
22	g.50721548_50721549insG	CA2580611761	SHANK3	c.3316_3317insG (p.Pro1106ArgfsTer?) n.3900_3901insG c.2368_2369insG (p.Pro790ArgfsTer?) c.1858_1859insG (p.Pro620ArgfsTer?) c.2314_2315insG (n.2314_2315insG) c.3712_3713insG (p.Pro1238ArgfsTer?) c.3694_3695insG (p.Pro1232ArgfsTer?)
22	g.50721549C>A	CA325579393	SHANK3	c.3317C>A (p.Pro1106Gln) n.3901C>A c.2369C>A (p.Pro790Gln) c.1859C>A (p.Pro620Gln) c.2315C>A (n.2315C>A) c.3713C>A (p.Pro1238Gln) c.3695C>A (p.Pro1232Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721549C=	CA2411008318	SHANK3	c.3317C= (p.Pro1106=) n.3901C= c.2369C= (p.Pro790=) c.1859C= (p.Pro620=) c.2315C= (n.2315C=) c.3713C= (p.Pro1238=) c.3695C= (p.Pro1232=)
22	g.50721549C>G	CA515262823	SHANK3	c.3317C>G (p.Pro1106Arg) n.3901C>G c.2369C>G (p.Pro790Arg) c.1859C>G (p.Pro620Arg) c.2315C>G (n.2315C>G) c.3713C>G (p.Pro1238Arg) c.3695C>G (p.Pro1232Arg)
22	g.50721549C>T	CA10326116	SHANK3	c.3317C>T (p.Pro1106Leu) n.3901C>T c.2369C>T (p.Pro790Leu) c.1859C>T (p.Pro620Leu) c.2315C>T (n.2315C>T) c.3713C>T (p.Pro1238Leu) c.3695C>T (p.Pro1232Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721550G>A	CA10326117	SHANK3	c.3318G>A (p.Pro1106=) n.3902G>A c.2370G>A (p.Pro790=) c.1860G>A (p.Pro620=) c.2316G>A (n.2316G>A) c.3714G>A (p.Pro1238=) c.3696G>A (p.Pro1232=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50721550G>C	CA515262825	SHANK3	c.3318G>C (p.Pro1106=) n.3902G>C c.2370G>C (p.Pro790=) c.1860G>C (p.Pro620=) c.2316G>C (n.2316G>C) c.3714G>C (p.Pro1238=) c.3696G>C (p.Pro1232=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721550G=	CA2411008319	SHANK3	c.3318G= (p.Pro1106=) n.3902G= c.2370G= (p.Pro790=) c.1860G= (p.Pro620=) c.2316G= (n.2316G=) c.3714G= (p.Pro1238=) c.3696G= (p.Pro1232=)
22	g.50721550G>T	CA515262824	SHANK3	c.3318G>T (p.Pro1106=) n.3902G>T c.2370G>T (p.Pro790=) c.1860G>T (p.Pro620=) c.2316G>T (n.2316G>T) c.3714G>T (p.Pro1238=) c.3696G>T (p.Pro1232=)
22	g.50721551dup	CA2499306732	SHANK3	c.3319dup (p.Ala1107GlyfsTer?) n.3903dup c.2371dup (p.Ala791GlyfsTer?) c.1861dup (p.Ala621GlyfsTer?) c.2317dup (n.2317dup) c.3715dup (p.Ala1239GlyfsTer?) c.3697dup (p.Ala1233GlyfsTer?)
22	g.50721551G>A	CA515262826	SHANK3	c.3319G>A (p.Ala1107Thr) n.3903G>A c.2371G>A (p.Ala791Thr) c.1861G>A (p.Ala621Thr) c.2317G>A (n.2317G>A) c.3715G>A (p.Ala1239Thr) c.3697G>A (p.Ala1233Thr)	dbSNP gnomAD v2 gnomAD v4
22	g.50721551G>C	CA10326118	SHANK3	c.3319G>C (p.Ala1107Pro) n.3903G>C c.2371G>C (p.Ala791Pro) c.1861G>C (p.Ala621Pro) c.2317G>C (n.2317G>C) c.3715G>C (p.Ala1239Pro) c.3697G>C (p.Ala1233Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721551G=	CA2411008320	SHANK3	c.3319G= (p.Ala1107=) n.3903G= c.2371G= (p.Ala791=) c.1861G= (p.Ala621=) c.2317G= (n.2317G=) c.3715G= (p.Ala1239=) c.3697G= (p.Ala1233=)
22	g.50721551G>T	CA515262828	SHANK3	c.3319G>T (p.Ala1107Ser) n.3903G>T c.2371G>T (p.Ala791Ser) c.1861G>T (p.Ala621Ser) c.2317G>T (n.2317G>T) c.3715G>T (p.Ala1239Ser) c.3697G>T (p.Ala1233Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50721552C>A	CA515262831	SHANK3	c.3320C>A (p.Ala1107Asp) n.3904C>A c.2372C>A (p.Ala791Asp) c.1862C>A (p.Ala621Asp) c.2318C>A (n.2318C>A) c.3716C>A (p.Ala1239Asp) c.3698C>A (p.Ala1233Asp)
22	g.50721552C=	CA2411008321	SHANK3	c.3320C= (p.Ala1107=) n.3904C= c.2372C= (p.Ala791=) c.1862C= (p.Ala621=) c.2318C= (n.2318C=) c.3716C= (p.Ala1239=) c.3698C= (p.Ala1233=)
22	g.50721552C>G	CA515262832	SHANK3	c.3320C>G (p.Ala1107Gly) n.3904C>G c.2372C>G (p.Ala791Gly) c.1862C>G (p.Ala621Gly) c.2318C>G (n.2318C>G) c.3716C>G (p.Ala1239Gly) c.3698C>G (p.Ala1233Gly)
22	g.50721552C>T	CA515262833	SHANK3	c.3320C>T (p.Ala1107Val) n.3904C>T c.2372C>T (p.Ala791Val) c.1862C>T (p.Ala621Val) c.2318C>T (n.2318C>T) c.3716C>T (p.Ala1239Val) c.3698C>T (p.Ala1233Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50721553C>A	CA515262834	SHANK3	c.3321C>A (p.Ala1107=) n.3905C>A c.2373C>A (p.Ala791=) c.1863C>A (p.Ala621=) c.2319C>A (n.2319C>A) c.3717C>A (p.Ala1239=) c.3699C>A (p.Ala1233=)
22	g.50721553C=	CA2411008322	SHANK3	c.3321C= (p.Ala1107=) n.3905C= c.2373C= (p.Ala791=) c.1863C= (p.Ala621=) c.2319C= (n.2319C=) c.3717C= (p.Ala1239=) c.3699C= (p.Ala1233=)
22	g.50721553C>G	CA515262835	SHANK3	c.3321C>G (p.Ala1107=) n.3905C>G c.2373C>G (p.Ala791=) c.1863C>G (p.Ala621=) c.2319C>G (n.2319C>G) c.3717C>G (p.Ala1239=) c.3699C>G (p.Ala1233=)
22	g.50721553C>T	CA325579405	SHANK3	c.3321C>T (p.Ala1107=) n.3905C>T c.2373C>T (p.Ala791=) c.1863C>T (p.Ala621=) c.2319C>T (n.2319C>T) c.3717C>T (p.Ala1239=) c.3699C>T (p.Ala1233=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50721554C>A	CA515262836	SHANK3	c.3322C>A (p.Pro1108Thr) n.3906C>A c.2374C>A (p.Pro792Thr) c.1864C>A (p.Pro622Thr) c.2320C>A (n.2320C>A) c.3718C>A (p.Pro1240Thr) c.3700C>A (p.Pro1234Thr)
22	g.50721554C>G	CA515262837	SHANK3	c.3322C>G (p.Pro1108Ala) n.3906C>G c.2374C>G (p.Pro792Ala) c.1864C>G (p.Pro622Ala) c.2320C>G (n.2320C>G) c.3718C>G (p.Pro1240Ala) c.3700C>G (p.Pro1234Ala)	gnomAD v4
22	g.50721554C>T	CA515262838	SHANK3	c.3322C>T (p.Pro1108Ser) n.3906C>T c.2374C>T (p.Pro792Ser) c.1864C>T (p.Pro622Ser) c.2320C>T (n.2320C>T) c.3718C>T (p.Pro1240Ser) c.3700C>T (p.Pro1234Ser)
22	g.50721555_50721567del	CA2573055036	SHANK3	c.3323_3335del (p.Pro1108ArgfsTer?) n.3907_3919del c.2375_2387del (p.Pro792ArgfsTer?) c.1865_1877del (p.Pro622ArgfsTer?) c.2321_2333del (n.2321_2333del) c.3719_3731del (p.Pro1240ArgfsTer?) c.3701_3713del (p.Pro1234ArgfsTer?)	dbSNP
22	g.50721555C>A	CA515262841	SHANK3	c.3323C>A (p.Pro1108His) n.3907C>A c.2375C>A (p.Pro792His) c.1865C>A (p.Pro622His) c.2321C>A (n.2321C>A) c.3719C>A (p.Pro1240His) c.3701C>A (p.Pro1234His)
22	g.50721555C>G	CA515262839	SHANK3	c.3323C>G (p.Pro1108Arg) n.3907C>G c.2375C>G (p.Pro792Arg) c.1865C>G (p.Pro622Arg) c.2321C>G (n.2321C>G) c.3719C>G (p.Pro1240Arg) c.3701C>G (p.Pro1234Arg)
22	g.50721555C>T	CA515262840	SHANK3	c.3323C>T (p.Pro1108Leu) n.3907C>T c.2375C>T (p.Pro792Leu) c.1865C>T (p.Pro622Leu) c.2321C>T (n.2321C>T) c.3719C>T (p.Pro1240Leu) c.3701C>T (p.Pro1234Leu)	gnomAD v4
22	g.50721556C>A	CA515262842	SHANK3	c.3324C>A (p.Pro1108=) n.3908C>A c.2376C>A (p.Pro792=) c.1866C>A (p.Pro622=) c.2322C>A (n.2322C>A) c.3720C>A (p.Pro1240=) c.3702C>A (p.Pro1234=)
22	g.50721556C=	CA2411008323	SHANK3	c.3324C= (p.Pro1108=) n.3908C= c.2376C= (p.Pro792=) c.1866C= (p.Pro622=) c.2322C= (n.2322C=) c.3720C= (p.Pro1240=) c.3702C= (p.Pro1234=)
22	g.50721556C>G	CA515262843	SHANK3	c.3324C>G (p.Pro1108=) n.3908C>G c.2376C>G (p.Pro792=) c.1866C>G (p.Pro622=) c.2322C>G (n.2322C>G) c.3720C>G (p.Pro1240=) c.3702C>G (p.Pro1234=)
22	g.50721556C>T	CA515262844	SHANK3	c.3324C>T (p.Pro1108=) n.3908C>T c.2376C>T (p.Pro792=) c.1866C>T (p.Pro622=) c.2322C>T (n.2322C>T) c.3720C>T (p.Pro1240=) c.3702C>T (p.Pro1234=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721557A=	CA2411008324	SHANK3	c.3325A= (p.Met1109=) n.3909A= c.2377A= (p.Met793=) c.1867A= (p.Met623=) c.2323A= (n.2323A=) c.3721A= (p.Met1241=) c.3703A= (p.Met1235=)
22	g.50721557A>C	CA515262845	SHANK3	c.3325A>C (p.Met1109Leu) n.3909A>C c.2377A>C (p.Met793Leu) c.1867A>C (p.Met623Leu) c.2323A>C (n.2323A>C) c.3721A>C (p.Met1241Leu) c.3703A>C (p.Met1235Leu)
22	g.50721557A>G	CA515262846	SHANK3	c.3325A>G (p.Met1109Val) n.3909A>G c.2377A>G (p.Met793Val) c.1867A>G (p.Met623Val) c.2323A>G (n.2323A>G) c.3721A>G (p.Met1241Val) c.3703A>G (p.Met1235Val)	dbSNP gnomAD v3 gnomAD v4
22	g.50721557A>T	CA515262847	SHANK3	c.3325A>T (p.Met1109Leu) n.3909A>T c.2377A>T (p.Met793Leu) c.1867A>T (p.Met623Leu) c.2323A>T (n.2323A>T) c.3721A>T (p.Met1241Leu) c.3703A>T (p.Met1235Leu)	dbSNP
22	g.50721557dup	CA2580099995	SHANK3	c.3325dup (p.Met1109AsnfsTer?) n.3909dup c.2377dup (p.Met793AsnfsTer?) c.1867dup (p.Met623AsnfsTer?) c.2323dup (n.2323dup) c.3721dup (p.Met1241AsnfsTer?) c.3703dup (p.Met1235AsnfsTer?)	ClinVar
22	g.50721558T>A	CA515262848	SHANK3	c.3326T>A (p.Met1109Lys) n.3910T>A c.2378T>A (p.Met793Lys) c.1868T>A (p.Met623Lys) c.2324T>A (n.2324T>A) c.3722T>A (p.Met1241Lys) c.3704T>A (p.Met1235Lys)
22	g.50721558T>C	CA515262849	SHANK3	c.3326T>C (p.Met1109Thr) n.3910T>C c.2378T>C (p.Met793Thr) c.1868T>C (p.Met623Thr) c.2324T>C (n.2324T>C) c.3722T>C (p.Met1241Thr) c.3704T>C (p.Met1235Thr)	dbSNP gnomAD v4
22	g.50721558T>G	CA515262851	SHANK3	c.3326T>G (p.Met1109Arg) n.3910T>G c.2378T>G (p.Met793Arg) c.1868T>G (p.Met623Arg) c.2324T>G (n.2324T>G) c.3722T>G (p.Met1241Arg) c.3704T>G (p.Met1235Arg)	ClinVar dbSNP
22	g.50721558T=	CA2411008325	SHANK3	c.3326T= (p.Met1109=) n.3910T= c.2378T= (p.Met793=) c.1868T= (p.Met623=) c.2324T= (n.2324T=) c.3722T= (p.Met1241=) c.3704T= (p.Met1235=)
22	g.50721560_50721572del	CA2573158315	SHANK3	c.3328_3340del (p.Gln1110TrpfsTer?) n.3912_3924del c.2380_2392del (p.Gln794TrpfsTer?) c.1870_1882del (p.Gln624TrpfsTer?) c.2326_2338del (n.2326_2338del) c.3724_3736del (p.Gln1242TrpfsTer?) c.3706_3718del (p.Gln1236TrpfsTer?)	ClinVar dbSNP
22	g.50721559G>A	CA515262853	SHANK3	c.3327G>A (p.Met1109Ile) n.3911G>A c.2379G>A (p.Met793Ile) c.1869G>A (p.Met623Ile) c.2325G>A (n.2325G>A) c.3723G>A (p.Met1241Ile) c.3705G>A (p.Met1235Ile)
22	g.50721559G>C	CA515262855	SHANK3	c.3327G>C (p.Met1109Ile) n.3911G>C c.2379G>C (p.Met793Ile) c.1869G>C (p.Met623Ile) c.2325G>C (n.2325G>C) c.3723G>C (p.Met1241Ile) c.3705G>C (p.Met1235Ile)
22	g.50721559G>T	CA515262856	SHANK3	c.3327G>T (p.Met1109Ile) n.3911G>T c.2379G>T (p.Met793Ile) c.1869G>T (p.Met623Ile) c.2325G>T (n.2325G>T) c.3723G>T (p.Met1241Ile) c.3705G>T (p.Met1235Ile)
22	g.50721560C>A	CA515262858	SHANK3	c.3328C>A (p.Gln1110Lys) n.3912C>A c.2380C>A (p.Gln794Lys) c.1870C>A (p.Gln624Lys) c.2326C>A (n.2326C>A) c.3724C>A (p.Gln1242Lys) c.3706C>A (p.Gln1236Lys)	gnomAD v4
22	g.50721560C>G	CA515262859	SHANK3	c.3328C>G (p.Gln1110Glu) n.3912C>G c.2380C>G (p.Gln794Glu) c.1870C>G (p.Gln624Glu) c.2326C>G (n.2326C>G) c.3724C>G (p.Gln1242Glu) c.3706C>G (p.Gln1236Glu)
22	g.50721560C>T	CA515262857	SHANK3	c.3328C>T (p.Gln1110Ter) n.3912C>T c.2380C>T (p.Gln794Ter) c.1870C>T (p.Gln624Ter) c.2326C>T (n.2326C>T) c.3724C>T (p.Gln1242Ter) c.3706C>T (p.Gln1236Ter)	gnomAD v4
22	g.50721560dup	CA2580099997	SHANK3	c.3328dup (p.Gln1110ProfsTer?) n.3912dup c.2380dup (p.Gln794ProfsTer?) c.1870dup (p.Gln624ProfsTer?) c.2326dup (n.2326dup) c.3724dup (p.Gln1242ProfsTer?) c.3706dup (p.Gln1236ProfsTer?)	ClinVar
22	g.50721561A=	CA2411008326	SHANK3	c.3329A= (p.Gln1110=) n.3913A= c.2381A= (p.Gln794=) c.1871A= (p.Gln624=) c.2327A= (n.2327A=) c.3725A= (p.Gln1242=) c.3707A= (p.Gln1236=)
22	g.50721561A>C	CA515262861	SHANK3	c.3329A>C (p.Gln1110Pro) n.3913A>C c.2381A>C (p.Gln794Pro) c.1871A>C (p.Gln624Pro) c.2327A>C (n.2327A>C) c.3725A>C (p.Gln1242Pro) c.3707A>C (p.Gln1236Pro)	dbSNP gnomAD v3 gnomAD v4
22	g.50721561A>G	CA515262860	SHANK3	c.3329A>G (p.Gln1110Arg) n.3913A>G c.2381A>G (p.Gln794Arg) c.1871A>G (p.Gln624Arg) c.2327A>G (n.2327A>G) c.3725A>G (p.Gln1242Arg) c.3707A>G (p.Gln1236Arg)
22	g.50721561A>T	CA515262862	SHANK3	c.3329A>T (p.Gln1110Leu) n.3913A>T c.2381A>T (p.Gln794Leu) c.1871A>T (p.Gln624Leu) c.2327A>T (n.2327A>T) c.3725A>T (p.Gln1242Leu) c.3707A>T (p.Gln1236Leu)

Number of alleles fetched