Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50721048_50721063dup	CA1139667205	SHANK3	c.2816_2831dup (p.Lys945ProfsTer?) n.3400_3415dup c.1868_1883dup (p.Lys629ProfsTer?) c.1358_1373dup (p.Lys459ProfsTer?) c.1814_1829dup (n.1814_1829dup) c.3212_3227dup (p.Lys1077ProfsTer?) c.3194_3209dup (p.Lys1071ProfsTer?)	ClinVar dbSNP
22	g.50721046C>A	CA515261010	SHANK3	c.2814C>A (p.Pro938=) n.3398C>A c.1866C>A (p.Pro622=) c.1356C>A (p.Pro452=) c.1812C>A (n.1812C>A) c.3210C>A (p.Pro1070=) c.3192C>A (p.Pro1064=)	dbSNP gnomAD v4
22	g.50721046C=	CA2411007998	SHANK3	c.2814C= (p.Pro938=) n.3398C= c.1866C= (p.Pro622=) c.1356C= (p.Pro452=) c.1812C= (n.1812C=) c.3210C= (p.Pro1070=) c.3192C= (p.Pro1064=)
22	g.50721046C>G	CA515261011	SHANK3	c.2814C>G (p.Pro938=) n.3398C>G c.1866C>G (p.Pro622=) c.1356C>G (p.Pro452=) c.1812C>G (n.1812C>G) c.3210C>G (p.Pro1070=) c.3192C>G (p.Pro1064=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721046C>T	CA515261012	SHANK3	c.2814C>T (p.Pro938=) n.3398C>T c.1866C>T (p.Pro622=) c.1356C>T (p.Pro452=) c.1812C>T (n.1812C>T) c.3210C>T (p.Pro1070=) c.3192C>T (p.Pro1064=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721047T>A	CA515261013	SHANK3	c.2815T>A (p.Ser939Thr) n.3399T>A c.1867T>A (p.Ser623Thr) c.1357T>A (p.Ser453Thr) c.1813T>A (n.1813T>A) c.3211T>A (p.Ser1071Thr) c.3193T>A (p.Ser1065Thr)
22	g.50721047T>C	CA515261014	SHANK3	c.2815T>C (p.Ser939Pro) n.3399T>C c.1867T>C (p.Ser623Pro) c.1357T>C (p.Ser453Pro) c.1813T>C (n.1813T>C) c.3211T>C (p.Ser1071Pro) c.3193T>C (p.Ser1065Pro)	gnomAD v4
22	g.50721047T>G	CA515261015	SHANK3	c.2815T>G (p.Ser939Ala) n.3399T>G c.1867T>G (p.Ser623Ala) c.1357T>G (p.Ser453Ala) c.1813T>G (n.1813T>G) c.3211T>G (p.Ser1071Ala) c.3193T>G (p.Ser1065Ala)
22	g.50721048C>A	CA515261016	SHANK3	c.2816C>A (p.Ser939Tyr) n.3400C>A c.1868C>A (p.Ser623Tyr) c.1358C>A (p.Ser453Tyr) c.1814C>A (n.1814C>A) c.3212C>A (p.Ser1071Tyr) c.3194C>A (p.Ser1065Tyr)	gnomAD v4
22	g.50721048C=	CA2411007999	SHANK3	c.2816C= (p.Ser939=) n.3400C= c.1868C= (p.Ser623=) c.1358C= (p.Ser453=) c.1814C= (n.1814C=) c.3212C= (p.Ser1071=) c.3194C= (p.Ser1065=)
22	g.50721048C>G	CA515261017	SHANK3	c.2816C>G (p.Ser939Cys) n.3400C>G c.1868C>G (p.Ser623Cys) c.1358C>G (p.Ser453Cys) c.1814C>G (n.1814C>G) c.3212C>G (p.Ser1071Cys) c.3194C>G (p.Ser1065Cys)	dbSNP gnomAD v2 gnomAD v4
22	g.50721048C>T	CA515261018	SHANK3	c.2816C>T (p.Ser939Phe) n.3400C>T c.1868C>T (p.Ser623Phe) c.1358C>T (p.Ser453Phe) c.1814C>T (n.1814C>T) c.3212C>T (p.Ser1071Phe) c.3194C>T (p.Ser1065Phe)	gnomAD v4
22	g.50721051del	CA2580099978	SHANK3	c.2819del (p.Pro940ArgfsTer5) n.3403del c.1871del (p.Pro624ArgfsTer5) c.1361del (p.Pro454ArgfsTer5) c.1817del (n.1817del) c.3215del (p.Pro1072ArgfsTer5) c.3197del (p.Pro1066ArgfsTer5)	ClinVar gnomAD v4
22	g.50721049C>A	CA515261019	SHANK3	c.2817C>A (p.Ser939=) n.3401C>A c.1869C>A (p.Ser623=) c.1359C>A (p.Ser453=) c.1815C>A (n.1815C>A) c.3213C>A (p.Ser1071=) c.3195C>A (p.Ser1065=)	dbSNP gnomAD v4
22	g.50721049C=	CA2411008000	SHANK3	c.2817C= (p.Ser939=) n.3401C= c.1869C= (p.Ser623=) c.1359C= (p.Ser453=) c.1815C= (n.1815C=) c.3213C= (p.Ser1071=) c.3195C= (p.Ser1065=)
22	g.50721049C>G	CA515261020	SHANK3	c.2817C>G (p.Ser939=) n.3401C>G c.1869C>G (p.Ser623=) c.1359C>G (p.Ser453=) c.1815C>G (n.1815C>G) c.3213C>G (p.Ser1071=) c.3195C>G (p.Ser1065=)
22	g.50721049C>T	CA10325981	SHANK3	c.2817C>T (p.Ser939=) n.3401C>T c.1869C>T (p.Ser623=) c.1359C>T (p.Ser453=) c.1815C>T (n.1815C>T) c.3213C>T (p.Ser1071=) c.3195C>T (p.Ser1065=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721050C>A	CA515261021	SHANK3	c.2818C>A (p.Pro940Thr) n.3402C>A c.1870C>A (p.Pro624Thr) c.1360C>A (p.Pro454Thr) c.1816C>A (n.1816C>A) c.3214C>A (p.Pro1072Thr) c.3196C>A (p.Pro1066Thr)	gnomAD v4
22	g.50721050C=	CA2411008001	SHANK3	c.2818C= (p.Pro940=) n.3402C= c.1870C= (p.Pro624=) c.1360C= (p.Pro454=) c.1816C= (n.1816C=) c.3214C= (p.Pro1072=) c.3196C= (p.Pro1066=)
22	g.50721050C>G	CA515261023	SHANK3	c.2818C>G (p.Pro940Ala) n.3402C>G c.1870C>G (p.Pro624Ala) c.1360C>G (p.Pro454Ala) c.1816C>G (n.1816C>G) c.3214C>G (p.Pro1072Ala) c.3196C>G (p.Pro1066Ala)	gnomAD v4
22	g.50721050C>T	CA515261022	SHANK3	c.2818C>T (p.Pro940Ser) n.3402C>T c.1870C>T (p.Pro624Ser) c.1360C>T (p.Pro454Ser) c.1816C>T (n.1816C>T) c.3214C>T (p.Pro1072Ser) c.3196C>T (p.Pro1066Ser)	dbSNP gnomAD v3 gnomAD v4
22	g.50721051_50721057del	CA2580099980	SHANK3	c.2819_2825del (p.Pro940LeufsTer3) n.3403_3409del c.1871_1877del (p.Pro624LeufsTer3) c.1361_1367del (p.Pro454LeufsTer3) c.1817_1823del (n.1817_1823del) c.3215_3221del (p.Pro1072LeufsTer3) c.3197_3203del (p.Pro1066LeufsTer3)	ClinVar
22	g.50721051C>A	CA515261024	SHANK3	c.2819C>A (p.Pro940Gln) n.3403C>A c.1871C>A (p.Pro624Gln) c.1361C>A (p.Pro454Gln) c.1817C>A (n.1817C>A) c.3215C>A (p.Pro1072Gln) c.3197C>A (p.Pro1066Gln)
22	g.50721051C=	CA2411008002	SHANK3	c.2819C= (p.Pro940=) n.3403C= c.1871C= (p.Pro624=) c.1361C= (p.Pro454=) c.1817C= (n.1817C=) c.3215C= (p.Pro1072=) c.3197C= (p.Pro1066=)
22	g.50721051C>G	CA10325982	SHANK3	c.2819C>G (p.Pro940Arg) n.3403C>G c.1871C>G (p.Pro624Arg) c.1361C>G (p.Pro454Arg) c.1817C>G (n.1817C>G) c.3215C>G (p.Pro1072Arg) c.3197C>G (p.Pro1066Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721051C>T	CA515261025	SHANK3	c.2819C>T (p.Pro940Leu) n.3403C>T c.1871C>T (p.Pro624Leu) c.1361C>T (p.Pro454Leu) c.1817C>T (n.1817C>T) c.3215C>T (p.Pro1072Leu) c.3197C>T (p.Pro1066Leu)	ClinVar dbSNP gnomAD v4
22	g.50721052G>A	CA10325983	SHANK3	c.2820G>A (p.Pro940=) n.3404G>A c.1872G>A (p.Pro624=) c.1362G>A (p.Pro454=) c.1818G>A (n.1818G>A) c.3216G>A (p.Pro1072=) c.3198G>A (p.Pro1066=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721052G>C	CA515261026	SHANK3	c.2820G>C (p.Pro940=) n.3404G>C c.1872G>C (p.Pro624=) c.1362G>C (p.Pro454=) c.1818G>C (n.1818G>C) c.3216G>C (p.Pro1072=) c.3198G>C (p.Pro1066=)	gnomAD v4
22	g.50721052G=	CA2411008003	SHANK3	c.2820G= (p.Pro940=) n.3404G= c.1872G= (p.Pro624=) c.1362G= (p.Pro454=) c.1818G= (n.1818G=) c.3216G= (p.Pro1072=) c.3198G= (p.Pro1066=)
22	g.50721052G>T	CA515261027	SHANK3	c.2820G>T (p.Pro940=) n.3404G>T c.1872G>T (p.Pro624=) c.1362G>T (p.Pro454=) c.1818G>T (n.1818G>T) c.3216G>T (p.Pro1072=) c.3198G>T (p.Pro1066=)	gnomAD v4
22	g.50721053G>A	CA515261028	SHANK3	c.2821G>A (p.Val941Met) n.3405G>A c.1873G>A (p.Val625Met) c.1363G>A (p.Val455Met) c.1819G>A (n.1819G>A) c.3217G>A (p.Val1073Met) c.3199G>A (p.Val1067Met)
22	g.50721053G>C	CA10325984	SHANK3	c.2821G>C (p.Val941Leu) n.3405G>C c.1873G>C (p.Val625Leu) c.1363G>C (p.Val455Leu) c.1819G>C (n.1819G>C) c.3217G>C (p.Val1073Leu) c.3199G>C (p.Val1067Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721053G=	CA2411008004	SHANK3	c.2821G= (p.Val941=) n.3405G= c.1873G= (p.Val625=) c.1363G= (p.Val455=) c.1819G= (n.1819G=) c.3217G= (p.Val1073=) c.3199G= (p.Val1067=)
22	g.50721053G>T	CA515261029	SHANK3	c.2821G>T (p.Val941Leu) n.3405G>T c.1873G>T (p.Val625Leu) c.1363G>T (p.Val455Leu) c.1819G>T (n.1819G>T) c.3217G>T (p.Val1073Leu) c.3199G>T (p.Val1067Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721054T>A	CA515261032	SHANK3	c.2822T>A (p.Val941Glu) n.3406T>A c.1874T>A (p.Val625Glu) c.1364T>A (p.Val455Glu) c.1820T>A (n.1820T>A) c.3218T>A (p.Val1073Glu) c.3200T>A (p.Val1067Glu)
22	g.50721054T>C	CA515261031	SHANK3	c.2822T>C (p.Val941Ala) n.3406T>C c.1874T>C (p.Val625Ala) c.1364T>C (p.Val455Ala) c.1820T>C (n.1820T>C) c.3218T>C (p.Val1073Ala) c.3200T>C (p.Val1067Ala)
22	g.50721054T>G	CA515261030	SHANK3	c.2822T>G (p.Val941Gly) n.3406T>G c.1874T>G (p.Val625Gly) c.1364T>G (p.Val455Gly) c.1820T>G (n.1820T>G) c.3218T>G (p.Val1073Gly) c.3200T>G (p.Val1067Gly)
22	g.50721055G>A	CA515261033	SHANK3	c.2823G>A (p.Val941=) n.3407G>A c.1875G>A (p.Val625=) c.1365G>A (p.Val455=) c.1821G>A (n.1821G>A) c.3219G>A (p.Val1073=) c.3201G>A (p.Val1067=)	gnomAD v4
22	g.50721055G>C	CA515261034	SHANK3	c.2823G>C (p.Val941=) n.3407G>C c.1875G>C (p.Val625=) c.1365G>C (p.Val455=) c.1821G>C (n.1821G>C) c.3219G>C (p.Val1073=) c.3201G>C (p.Val1067=)
22	g.50721055G>T	CA515261035	SHANK3	c.2823G>T (p.Val941=) n.3407G>T c.1875G>T (p.Val625=) c.1365G>T (p.Val455=) c.1821G>T (n.1821G>T) c.3219G>T (p.Val1073=) c.3201G>T (p.Val1067=)
22	g.50721056T>A	CA515261036	SHANK3	c.2824T>A (p.Ser942Thr) n.3408T>A c.1876T>A (p.Ser626Thr) c.1366T>A (p.Ser456Thr) c.1822T>A (n.1822T>A) c.3220T>A (p.Ser1074Thr) c.3202T>A (p.Ser1068Thr)
22	g.50721056T>C	CA515261037	SHANK3	c.2824T>C (p.Ser942Pro) n.3408T>C c.1876T>C (p.Ser626Pro) c.1366T>C (p.Ser456Pro) c.1822T>C (n.1822T>C) c.3220T>C (p.Ser1074Pro) c.3202T>C (p.Ser1068Pro)
22	g.50721056T>G	CA515261038	SHANK3	c.2824T>G (p.Ser942Ala) n.3408T>G c.1876T>G (p.Ser626Ala) c.1366T>G (p.Ser456Ala) c.1822T>G (n.1822T>G) c.3220T>G (p.Ser1074Ala) c.3202T>G (p.Ser1068Ala)
22	g.50721057C>A	CA515261039	SHANK3	c.2825C>A (p.Ser942Tyr) n.3409C>A c.1877C>A (p.Ser626Tyr) c.1367C>A (p.Ser456Tyr) c.1823C>A (n.1823C>A) c.3221C>A (p.Ser1074Tyr) c.3203C>A (p.Ser1068Tyr)
22	g.50721057C>G	CA515261041	SHANK3	c.2825C>G (p.Ser942Cys) n.3409C>G c.1877C>G (p.Ser626Cys) c.1367C>G (p.Ser456Cys) c.1823C>G (n.1823C>G) c.3221C>G (p.Ser1074Cys) c.3203C>G (p.Ser1068Cys)	gnomAD v4
22	g.50721057C>T	CA515261040	SHANK3	c.2825C>T (p.Ser942Phe) n.3409C>T c.1877C>T (p.Ser626Phe) c.1367C>T (p.Ser456Phe) c.1823C>T (n.1823C>T) c.3221C>T (p.Ser1074Phe) c.3203C>T (p.Ser1068Phe)
22	g.50721058T>A	CA515261042	SHANK3	c.2826T>A (p.Ser942=) n.3410T>A c.1878T>A (p.Ser626=) c.1368T>A (p.Ser456=) c.1824T>A (n.1824T>A) c.3222T>A (p.Ser1074=) c.3204T>A (p.Ser1068=)	gnomAD v4
22	g.50721058T>C	CA515261043	SHANK3	c.2826T>C (p.Ser942=) n.3410T>C c.1878T>C (p.Ser626=) c.1368T>C (p.Ser456=) c.1824T>C (n.1824T>C) c.3222T>C (p.Ser1074=) c.3204T>C (p.Ser1068=)	gnomAD v4
22	g.50721058T>G	CA515261044	SHANK3	c.2826T>G (p.Ser942=) n.3410T>G c.1878T>G (p.Ser626=) c.1368T>G (p.Ser456=) c.1824T>G (n.1824T>G) c.3222T>G (p.Ser1074=) c.3204T>G (p.Ser1068=)
22	g.50721059G>A	CA515261045	SHANK3	c.2827G>A (p.Ala943Thr) n.3411G>A c.1879G>A (p.Ala627Thr) c.1369G>A (p.Ala457Thr) c.1825G>A (n.1825G>A) c.3223G>A (p.Ala1075Thr) c.3205G>A (p.Ala1069Thr)	gnomAD v4
22	g.50721059G>C	CA515261046	SHANK3	c.2827G>C (p.Ala943Pro) n.3411G>C c.1879G>C (p.Ala627Pro) c.1369G>C (p.Ala457Pro) c.1825G>C (n.1825G>C) c.3223G>C (p.Ala1075Pro) c.3205G>C (p.Ala1069Pro)
22	g.50721059G>T	CA515261047	SHANK3	c.2827G>T (p.Ala943Ser) n.3411G>T c.1879G>T (p.Ala627Ser) c.1369G>T (p.Ala457Ser) c.1825G>T (n.1825G>T) c.3223G>T (p.Ala1075Ser) c.3205G>T (p.Ala1069Ser)	gnomAD v4
22	g.50721060C>A	CA515261048	SHANK3	c.2828C>A (p.Ala943Asp) n.3412C>A c.1880C>A (p.Ala627Asp) c.1370C>A (p.Ala457Asp) c.1826C>A (n.1826C>A) c.3224C>A (p.Ala1075Asp) c.3206C>A (p.Ala1069Asp)
22	g.50721060C=	CA2411008005	SHANK3	c.2828C= (p.Ala943=) n.3412C= c.1880C= (p.Ala627=) c.1370C= (p.Ala457=) c.1826C= (n.1826C=) c.3224C= (p.Ala1075=) c.3206C= (p.Ala1069=)
22	g.50721060C>G	CA515261049	SHANK3	c.2828C>G (p.Ala943Gly) n.3412C>G c.1880C>G (p.Ala627Gly) c.1370C>G (p.Ala457Gly) c.1826C>G (n.1826C>G) c.3224C>G (p.Ala1075Gly) c.3206C>G (p.Ala1069Gly)
22	g.50721060C>T	CA515261050	SHANK3	c.2828C>T (p.Ala943Val) n.3412C>T c.1880C>T (p.Ala627Val) c.1370C>T (p.Ala457Val) c.1826C>T (n.1826C>T) c.3224C>T (p.Ala1075Val) c.3206C>T (p.Ala1069Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50721061C>A	CA515261051	SHANK3	c.2829C>A (p.Ala943=) n.3413C>A c.1881C>A (p.Ala627=) c.1371C>A (p.Ala457=) c.1827C>A (n.1827C>A) c.3225C>A (p.Ala1075=) c.3207C>A (p.Ala1069=)
22	g.50721061C=	CA2411008006	SHANK3	c.2829C= (p.Ala943=) n.3413C= c.1881C= (p.Ala627=) c.1371C= (p.Ala457=) c.1827C= (n.1827C=) c.3225C= (p.Ala1075=) c.3207C= (p.Ala1069=)
22	g.50721061C>G	CA515261052	SHANK3	c.2829C>G (p.Ala943=) n.3413C>G c.1881C>G (p.Ala627=) c.1371C>G (p.Ala457=) c.1827C>G (n.1827C>G) c.3225C>G (p.Ala1075=) c.3207C>G (p.Ala1069=)	gnomAD v4
22	g.50721061C>T	CA325578598	SHANK3	c.2829C>T (p.Ala943=) n.3413C>T c.1881C>T (p.Ala627=) c.1371C>T (p.Ala457=) c.1827C>T (n.1827C>T) c.3225C>T (p.Ala1075=) c.3207C>T (p.Ala1069=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721062C>A	CA515261053	SHANK3	c.2830C>A (p.Leu944Met) n.3414C>A c.1882C>A (p.Leu628Met) c.1372C>A (p.Leu458Met) c.1828C>A (n.1828C>A) c.3226C>A (p.Leu1076Met) c.3208C>A (p.Leu1070Met)	gnomAD v4
22	g.50721062C=	CA2411008007	SHANK3	c.2830C= (p.Leu944=) n.3414C= c.1882C= (p.Leu628=) c.1372C= (p.Leu458=) c.1828C= (n.1828C=) c.3226C= (p.Leu1076=) c.3208C= (p.Leu1070=)
22	g.50721062C>G	CA515261054	SHANK3	c.2830C>G (p.Leu944Val) n.3414C>G c.1882C>G (p.Leu628Val) c.1372C>G (p.Leu458Val) c.1828C>G (n.1828C>G) c.3226C>G (p.Leu1076Val) c.3208C>G (p.Leu1070Val)
22	g.50721062C>T	CA10325985	SHANK3	c.2830C>T (p.Leu944=) n.3414C>T c.1882C>T (p.Leu628=) c.1372C>T (p.Leu458=) c.1828C>T (n.1828C>T) c.3226C>T (p.Leu1076=) c.3208C>T (p.Leu1070=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721063T>A	CA515261055	SHANK3	c.2831T>A (p.Leu944Gln) n.3415T>A c.1883T>A (p.Leu628Gln) c.1373T>A (p.Leu458Gln) c.1829T>A (n.1829T>A) c.3227T>A (p.Leu1076Gln) c.3209T>A (p.Leu1070Gln)	ClinVar
22	g.50721063T>C	CA10325986	SHANK3	c.2831T>C (p.Leu944Pro) n.3415T>C c.1883T>C (p.Leu628Pro) c.1373T>C (p.Leu458Pro) c.1829T>C (n.1829T>C) c.3227T>C (p.Leu1076Pro) c.3209T>C (p.Leu1070Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721063T>G	CA515261056	SHANK3	c.2831T>G (p.Leu944Arg) n.3415T>G c.1883T>G (p.Leu628Arg) c.1373T>G (p.Leu458Arg) c.1829T>G (n.1829T>G) c.3227T>G (p.Leu1076Arg) c.3209T>G (p.Leu1070Arg)
22	g.50721063T=	CA2411008008	SHANK3	c.2831T= (p.Leu944=) n.3415T= c.1883T= (p.Leu628=) c.1373T= (p.Leu458=) c.1829T= (n.1829T=) c.3227T= (p.Leu1076=) c.3209T= (p.Leu1070=)
22	g.50721064G>A	CA515261057	SHANK3	c.2832G>A (p.Leu944=) n.3416G>A c.1884G>A (p.Leu628=) c.1374G>A (p.Leu458=) c.1830G>A (n.1830G>A) c.3228G>A (p.Leu1076=) c.3210G>A (p.Leu1070=)	gnomAD v4
22	g.50721064G>C	CA515261058	SHANK3	c.2832G>C (p.Leu944=) n.3416G>C c.1884G>C (p.Leu628=) c.1374G>C (p.Leu458=) c.1830G>C (n.1830G>C) c.3228G>C (p.Leu1076=) c.3210G>C (p.Leu1070=)
22	g.50721064G>T	CA515261059	SHANK3	c.2832G>T (p.Leu944=) n.3416G>T c.1884G>T (p.Leu628=) c.1374G>T (p.Leu458=) c.1830G>T (n.1830G>T) c.3228G>T (p.Leu1076=) c.3210G>T (p.Leu1070=)
22	g.50721065A=	CA2411008009	SHANK3	c.2833A= (p.Lys945=) n.3417A= c.1885A= (p.Lys629=) c.1375A= (p.Lys459=) c.1831A= (n.1831A=) c.3229A= (p.Lys1077=) c.3211A= (p.Lys1071=)
22	g.50721065A>C	CA515261060	SHANK3	c.2833A>C (p.Lys945Gln) n.3417A>C c.1885A>C (p.Lys629Gln) c.1375A>C (p.Lys459Gln) c.1831A>C (n.1831A>C) c.3229A>C (p.Lys1077Gln) c.3211A>C (p.Lys1071Gln)
22	g.50721065A>G	CA515261061	SHANK3	c.2833A>G (p.Lys945Glu) n.3417A>G c.1885A>G (p.Lys629Glu) c.1375A>G (p.Lys459Glu) c.1831A>G (n.1831A>G) c.3229A>G (p.Lys1077Glu) c.3211A>G (p.Lys1071Glu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721065A>T	CA515261062	SHANK3	c.2833A>T (p.Lys945Ter) n.3417A>T c.1885A>T (p.Lys629Ter) c.1375A>T (p.Lys459Ter) c.1831A>T (n.1831A>T) c.3229A>T (p.Lys1077Ter) c.3211A>T (p.Lys1071Ter)
22	g.50721066A>C	CA515261063	SHANK3	c.2834A>C (p.Lys945Thr) n.3418A>C c.1886A>C (p.Lys629Thr) c.1376A>C (p.Lys459Thr) c.1832A>C (n.1832A>C) c.3230A>C (p.Lys1077Thr) c.3212A>C (p.Lys1071Thr)
22	g.50721066A>G	CA515261064	SHANK3	c.2834A>G (p.Lys945Arg) n.3418A>G c.1886A>G (p.Lys629Arg) c.1376A>G (p.Lys459Arg) c.1832A>G (n.1832A>G) c.3230A>G (p.Lys1077Arg) c.3212A>G (p.Lys1071Arg)
22	g.50721066A>T	CA515261065	SHANK3	c.2834A>T (p.Lys945Met) n.3418A>T c.1886A>T (p.Lys629Met) c.1376A>T (p.Lys459Met) c.1832A>T (n.1832A>T) c.3230A>T (p.Lys1077Met) c.3212A>T (p.Lys1071Met)
22	g.50721067G>A	CA515261068	SHANK3	c.2835G>A (p.Lys945=) n.3419G>A c.1887G>A (p.Lys629=) c.1377G>A (p.Lys459=) c.1833G>A (n.1833G>A) c.3231G>A (p.Lys1077=) c.3213G>A (p.Lys1071=)	gnomAD v4
22	g.50721067G>C	CA515261067	SHANK3	c.2835G>C (p.Lys945Asn) n.3419G>C c.1887G>C (p.Lys629Asn) c.1377G>C (p.Lys459Asn) c.1833G>C (n.1833G>C) c.3231G>C (p.Lys1077Asn) c.3213G>C (p.Lys1071Asn)
22	g.50721067G>T	CA515261066	SHANK3	c.2835G>T (p.Lys945Asn) n.3419G>T c.1887G>T (p.Lys629Asn) c.1377G>T (p.Lys459Asn) c.1833G>T (n.1833G>T) c.3231G>T (p.Lys1077Asn) c.3213G>T (p.Lys1071Asn)	gnomAD v4
22	g.50721068C>A	CA515261069	SHANK3	c.2836C>A (p.Pro946Thr) n.3420C>A c.1888C>A (p.Pro630Thr) c.1378C>A (p.Pro460Thr) c.1834C>A (n.1834C>A) c.3232C>A (p.Pro1078Thr) c.3214C>A (p.Pro1072Thr)	gnomAD v4
22	g.50721068C=	CA2411008010	SHANK3	c.2836C= (p.Pro946=) n.3420C= c.1888C= (p.Pro630=) c.1378C= (p.Pro460=) c.1834C= (n.1834C=) c.3232C= (p.Pro1078=) c.3214C= (p.Pro1072=)
22	g.50721068C>G	CA515261070	SHANK3	c.2836C>G (p.Pro946Ala) n.3420C>G c.1888C>G (p.Pro630Ala) c.1378C>G (p.Pro460Ala) c.1834C>G (n.1834C>G) c.3232C>G (p.Pro1078Ala) c.3214C>G (p.Pro1072Ala)
22	g.50721068C>T	CA10325987	SHANK3	c.2836C>T (p.Pro946Ser) n.3420C>T c.1888C>T (p.Pro630Ser) c.1378C>T (p.Pro460Ser) c.1834C>T (n.1834C>T) c.3232C>T (p.Pro1078Ser) c.3214C>T (p.Pro1072Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721069C>A	CA515261071	SHANK3	c.2837C>A (p.Pro946Gln) n.3421C>A c.1889C>A (p.Pro630Gln) c.1379C>A (p.Pro460Gln) c.1835C>A (n.1835C>A) c.3233C>A (p.Pro1078Gln) c.3215C>A (p.Pro1072Gln)	gnomAD v4
22	g.50721069C>G	CA515261072	SHANK3	c.2837C>G (p.Pro946Arg) n.3421C>G c.1889C>G (p.Pro630Arg) c.1379C>G (p.Pro460Arg) c.1835C>G (n.1835C>G) c.3233C>G (p.Pro1078Arg) c.3215C>G (p.Pro1072Arg)
22	g.50721069C>T	CA515261073	SHANK3	c.2837C>T (p.Pro946Leu) n.3421C>T c.1889C>T (p.Pro630Leu) c.1379C>T (p.Pro460Leu) c.1835C>T (n.1835C>T) c.3233C>T (p.Pro1078Leu) c.3215C>T (p.Pro1072Leu)	gnomAD v4
22	g.50721070G>A	CA515261074	SHANK3	c.2838G>A (p.Pro946=) n.3422G>A c.1890G>A (p.Pro630=) c.1380G>A (p.Pro460=) c.1836G>A (n.1836G>A) c.3234G>A (p.Pro1078=) c.3216G>A (p.Pro1072=)	dbSNP
22	g.50721070G>C	CA515261075	SHANK3	c.2838G>C (p.Pro946=) n.3422G>C c.1890G>C (p.Pro630=) c.1380G>C (p.Pro460=) c.1836G>C (n.1836G>C) c.3234G>C (p.Pro1078=) c.3216G>C (p.Pro1072=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721070G=	CA2411008011	SHANK3	c.2838G= (p.Pro946=) n.3422G= c.1890G= (p.Pro630=) c.1380G= (p.Pro460=) c.1836G= (n.1836G=) c.3234G= (p.Pro1078=) c.3216G= (p.Pro1072=)
22	g.50721070G>T	CA515261076	SHANK3	c.2838G>T (p.Pro946=) n.3422G>T c.1890G>T (p.Pro630=) c.1380G>T (p.Pro460=) c.1836G>T (n.1836G>T) c.3234G>T (p.Pro1078=) c.3216G>T (p.Pro1072=)	gnomAD v4
22	g.50721071T>A	CA515261077	SHANK3	c.2839T>A (p.Leu947Met) n.3423T>A c.1891T>A (p.Leu631Met) c.1381T>A (p.Leu461Met) c.1837T>A (n.1837T>A) c.3235T>A (p.Leu1079Met) c.3217T>A (p.Leu1073Met)
22	g.50721071T>C	CA515261078	SHANK3	c.2839T>C (p.Leu947=) n.3423T>C c.1891T>C (p.Leu631=) c.1381T>C (p.Leu461=) c.1837T>C (n.1837T>C) c.3235T>C (p.Leu1079=) c.3217T>C (p.Leu1073=)	dbSNP
22	g.50721071T>G	CA515261079	SHANK3	c.2839T>G (p.Leu947Val) n.3423T>G c.1891T>G (p.Leu631Val) c.1381T>G (p.Leu461Val) c.1837T>G (n.1837T>G) c.3235T>G (p.Leu1079Val) c.3217T>G (p.Leu1073Val)
22	g.50721071T=	CA2411008012	SHANK3	c.2839T= (p.Leu947=) n.3423T= c.1891T= (p.Leu631=) c.1381T= (p.Leu461=) c.1837T= (n.1837T=) c.3235T= (p.Leu1079=) c.3217T= (p.Leu1073=)
22	g.50721072T>A	CA515261080	SHANK3	c.2840T>A (p.Leu947Ter) n.3424T>A c.1892T>A (p.Leu631Ter) c.1382T>A (p.Leu461Ter) c.1838T>A (n.1838T>A) c.3236T>A (p.Leu1079Ter) c.3218T>A (p.Leu1073Ter)
22	g.50721072T>C	CA515261082	SHANK3	c.2840T>C (p.Leu947Ser) n.3424T>C c.1892T>C (p.Leu631Ser) c.1382T>C (p.Leu461Ser) c.1838T>C (n.1838T>C) c.3236T>C (p.Leu1079Ser) c.3218T>C (p.Leu1073Ser)
22	g.50721072T>G	CA515261081	SHANK3	c.2840T>G (p.Leu947Trp) n.3424T>G c.1892T>G (p.Leu631Trp) c.1382T>G (p.Leu461Trp) c.1838T>G (n.1838T>G) c.3236T>G (p.Leu1079Trp) c.3218T>G (p.Leu1073Trp)
22	g.50721073G>A	CA515261083	SHANK3	c.2841G>A (p.Leu947=) n.3425G>A c.1893G>A (p.Leu631=) c.1383G>A (p.Leu461=) c.1839G>A (n.1839G>A) c.3237G>A (p.Leu1079=) c.3219G>A (p.Leu1073=)
22	g.50721073G>C	CA515261084	SHANK3	c.2841G>C (p.Leu947Phe) n.3425G>C c.1893G>C (p.Leu631Phe) c.1383G>C (p.Leu461Phe) c.1839G>C (n.1839G>C) c.3237G>C (p.Leu1079Phe) c.3219G>C (p.Leu1073Phe)	dbSNP gnomAD v2 gnomAD v4
22	g.50721073G=	CA2411008013	SHANK3	c.2841G= (p.Leu947=) n.3425G= c.1893G= (p.Leu631=) c.1383G= (p.Leu461=) c.1839G= (n.1839G=) c.3237G= (p.Leu1079=) c.3219G= (p.Leu1073=)
22	g.50721073G>T	CA10325988	SHANK3	c.2841G>T (p.Leu947Phe) n.3425G>T c.1893G>T (p.Leu631Phe) c.1383G>T (p.Leu461Phe) c.1839G>T (n.1839G>T) c.3237G>T (p.Leu1079Phe) c.3219G>T (p.Leu1073Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721074G>A	CA515261085	SHANK3	c.2842G>A (p.Val948Ile) n.3426G>A c.1894G>A (p.Val632Ile) c.1384G>A (p.Val462Ile) c.1840G>A (n.1840G>A) c.3238G>A (p.Val1080Ile) c.3220G>A (p.Val1074Ile)
22	g.50721074G>C	CA515261086	SHANK3	c.2842G>C (p.Val948Leu) n.3426G>C c.1894G>C (p.Val632Leu) c.1384G>C (p.Val462Leu) c.1840G>C (n.1840G>C) c.3238G>C (p.Val1080Leu) c.3220G>C (p.Val1074Leu)
22	g.50721074G>T	CA515261087	SHANK3	c.2842G>T (p.Val948Phe) n.3426G>T c.1894G>T (p.Val632Phe) c.1384G>T (p.Val462Phe) c.1840G>T (n.1840G>T) c.3238G>T (p.Val1080Phe) c.3220G>T (p.Val1074Phe)	gnomAD v4
22	g.50721075T>A	CA515261088	SHANK3	c.2843T>A (p.Val948Asp) n.3427T>A c.1895T>A (p.Val632Asp) c.1385T>A (p.Val462Asp) c.1841T>A (n.1841T>A) c.3239T>A (p.Val1080Asp) c.3221T>A (p.Val1074Asp)
22	g.50721075T>C	CA515261089	SHANK3	c.2843T>C (p.Val948Ala) n.3427T>C c.1895T>C (p.Val632Ala) c.1385T>C (p.Val462Ala) c.1841T>C (n.1841T>C) c.3239T>C (p.Val1080Ala) c.3221T>C (p.Val1074Ala)
22	g.50721075T>G	CA515261090	SHANK3	c.2843T>G (p.Val948Gly) n.3427T>G c.1895T>G (p.Val632Gly) c.1385T>G (p.Val462Gly) c.1841T>G (n.1841T>G) c.3239T>G (p.Val1080Gly) c.3221T>G (p.Val1074Gly)
22	g.50721076C>A	CA515261091	SHANK3	c.2844C>A (p.Val948=) n.3428C>A c.1896C>A (p.Val632=) c.1386C>A (p.Val462=) c.1842C>A (n.1842C>A) c.3240C>A (p.Val1080=) c.3222C>A (p.Val1074=)	gnomAD v4
22	g.50721076C=	CA2411008014	SHANK3	c.2844C= (p.Val948=) n.3428C= c.1896C= (p.Val632=) c.1386C= (p.Val462=) c.1842C= (n.1842C=) c.3240C= (p.Val1080=) c.3222C= (p.Val1074=)
22	g.50721076C>G	CA515261092	SHANK3	c.2844C>G (p.Val948=) n.3428C>G c.1896C>G (p.Val632=) c.1386C>G (p.Val462=) c.1842C>G (n.1842C>G) c.3240C>G (p.Val1080=) c.3222C>G (p.Val1074=)
22	g.50721076C>T	CA325578632	SHANK3	c.2844C>T (p.Val948=) n.3428C>T c.1896C>T (p.Val632=) c.1386C>T (p.Val462=) c.1842C>T (n.1842C>T) c.3240C>T (p.Val1080=) c.3222C>T (p.Val1074=)	dbSNP gnomAD v4
22	g.50721077A=	CA2411008015	SHANK3	c.2845A= (p.Ser949=) n.3429A= c.1897A= (p.Ser633=) c.1387A= (p.Ser463=) c.1843A= (n.1843A=) c.3241A= (p.Ser1081=) c.3223A= (p.Ser1075=)
22	g.50721077A>C	CA515261093	SHANK3	c.2845A>C (p.Ser949Arg) n.3429A>C c.1897A>C (p.Ser633Arg) c.1387A>C (p.Ser463Arg) c.1843A>C (n.1843A>C) c.3241A>C (p.Ser1081Arg) c.3223A>C (p.Ser1075Arg)
22	g.50721077A>G	CA10325989	SHANK3	c.2845A>G (p.Ser949Gly) n.3429A>G c.1897A>G (p.Ser633Gly) c.1387A>G (p.Ser463Gly) c.1843A>G (n.1843A>G) c.3241A>G (p.Ser1081Gly) c.3223A>G (p.Ser1075Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721077A>T	CA515261094	SHANK3	c.2845A>T (p.Ser949Cys) n.3429A>T c.1897A>T (p.Ser633Cys) c.1387A>T (p.Ser463Cys) c.1843A>T (n.1843A>T) c.3241A>T (p.Ser1081Cys) c.3223A>T (p.Ser1075Cys)
22	g.50721078G>A	CA515261095	SHANK3	c.2846G>A (p.Ser949Asn) n.3430G>A c.1898G>A (p.Ser633Asn) c.1388G>A (p.Ser463Asn) c.1844G>A (n.1844G>A) c.3242G>A (p.Ser1081Asn) c.3224G>A (p.Ser1075Asn)
22	g.50721078G>C	CA515261097	SHANK3	c.2846G>C (p.Ser949Thr) n.3430G>C c.1898G>C (p.Ser633Thr) c.1388G>C (p.Ser463Thr) c.1844G>C (n.1844G>C) c.3242G>C (p.Ser1081Thr) c.3224G>C (p.Ser1075Thr)
22	g.50721078G>T	CA515261096	SHANK3	c.2846G>T (p.Ser949Ile) n.3430G>T c.1898G>T (p.Ser633Ile) c.1388G>T (p.Ser463Ile) c.1844G>T (n.1844G>T) c.3242G>T (p.Ser1081Ile) c.3224G>T (p.Ser1075Ile)	gnomAD v4
22	g.50721079C>A	CA515261098	SHANK3	c.2847C>A (p.Ser949Arg) n.3431C>A c.1899C>A (p.Ser633Arg) c.1389C>A (p.Ser463Arg) c.1845C>A (n.1845C>A) c.3243C>A (p.Ser1081Arg) c.3225C>A (p.Ser1075Arg)	gnomAD v4
22	g.50721079C=	CA2411008016	SHANK3	c.2847C= (p.Ser949=) n.3431C= c.1899C= (p.Ser633=) c.1389C= (p.Ser463=) c.1845C= (n.1845C=) c.3243C= (p.Ser1081=) c.3225C= (p.Ser1075=)
22	g.50721079C>G	CA515261099	SHANK3	c.2847C>G (p.Ser949Arg) n.3431C>G c.1899C>G (p.Ser633Arg) c.1389C>G (p.Ser463Arg) c.1845C>G (n.1845C>G) c.3243C>G (p.Ser1081Arg) c.3225C>G (p.Ser1075Arg)	gnomAD v4
22	g.50721079C>T	CA515261100	SHANK3	c.2847C>T (p.Ser949=) n.3431C>T c.1899C>T (p.Ser633=) c.1389C>T (p.Ser463=) c.1845C>T (n.1845C>T) c.3243C>T (p.Ser1081=) c.3225C>T (p.Ser1075=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721080G>A	CA325578637	SHANK3	c.2848G>A (p.Gly950Ser) n.3432G>A c.1900G>A (p.Gly634Ser) c.1390G>A (p.Gly464Ser) c.1846G>A (n.1846G>A) c.3244G>A (p.Gly1082Ser) c.3226G>A (p.Gly1076Ser)	dbSNP gnomAD v4
22	g.50721080G>C	CA515261101	SHANK3	c.2848G>C (p.Gly950Arg) n.3432G>C c.1900G>C (p.Gly634Arg) c.1390G>C (p.Gly464Arg) c.1846G>C (n.1846G>C) c.3244G>C (p.Gly1082Arg) c.3226G>C (p.Gly1076Arg)	dbSNP gnomAD v3 gnomAD v4
22	g.50721080G=	CA2411008017	SHANK3	c.2848G= (p.Gly950=) n.3432G= c.1900G= (p.Gly634=) c.1390G= (p.Gly464=) c.1846G= (n.1846G=) c.3244G= (p.Gly1082=) c.3226G= (p.Gly1076=)
22	g.50721080G>T	CA515261102	SHANK3	c.2848G>T (p.Gly950Cys) n.3432G>T c.1900G>T (p.Gly634Cys) c.1390G>T (p.Gly464Cys) c.1846G>T (n.1846G>T) c.3244G>T (p.Gly1082Cys) c.3226G>T (p.Gly1076Cys)	gnomAD v4
22	g.50721081G>A	CA515261103	SHANK3	c.2849G>A (p.Gly950Asp) n.3433G>A c.1901G>A (p.Gly634Asp) c.1391G>A (p.Gly464Asp) c.1847G>A (n.1847G>A) c.3245G>A (p.Gly1082Asp) c.3227G>A (p.Gly1076Asp)	gnomAD v4
22	g.50721081G>C	CA515261104	SHANK3	c.2849G>C (p.Gly950Ala) n.3433G>C c.1901G>C (p.Gly634Ala) c.1391G>C (p.Gly464Ala) c.1847G>C (n.1847G>C) c.3245G>C (p.Gly1082Ala) c.3227G>C (p.Gly1076Ala)
22	g.50721081G>T	CA515261105	SHANK3	c.2849G>T (p.Gly950Val) n.3433G>T c.1901G>T (p.Gly634Val) c.1391G>T (p.Gly464Val) c.1847G>T (n.1847G>T) c.3245G>T (p.Gly1082Val) c.3227G>T (p.Gly1076Val)	gnomAD v4
22	g.50721082C>A	CA515261107	SHANK3	c.2850C>A (p.Gly950=) n.3434C>A c.1902C>A (p.Gly634=) c.1392C>A (p.Gly464=) c.1848C>A (n.1848C>A) c.3246C>A (p.Gly1082=) c.3228C>A (p.Gly1076=)	gnomAD v4
22	g.50721082C=	CA2411008018	SHANK3	c.2850C= (p.Gly950=) n.3434C= c.1902C= (p.Gly634=) c.1392C= (p.Gly464=) c.1848C= (n.1848C=) c.3246C= (p.Gly1082=) c.3228C= (p.Gly1076=)
22	g.50721082C>G	CA515261108	SHANK3	c.2850C>G (p.Gly950=) n.3434C>G c.1902C>G (p.Gly634=) c.1392C>G (p.Gly464=) c.1848C>G (n.1848C>G) c.3246C>G (p.Gly1082=) c.3228C>G (p.Gly1076=)
22	g.50721082C>T	CA515261106	SHANK3	c.2850C>T (p.Gly950=) n.3434C>T c.1902C>T (p.Gly634=) c.1392C>T (p.Gly464=) c.1848C>T (n.1848C>T) c.3246C>T (p.Gly1082=) c.3228C>T (p.Gly1076=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721083C>A	CA515261109	SHANK3	c.2851C>A (p.Pro951Thr) n.3435C>A c.1903C>A (p.Pro635Thr) c.1393C>A (p.Pro465Thr) c.1849C>A (n.1849C>A) c.3247C>A (p.Pro1083Thr) c.3229C>A (p.Pro1077Thr)
22	g.50721083C=	CA2411008019	SHANK3	c.2851C= (p.Pro951=) n.3435C= c.1903C= (p.Pro635=) c.1393C= (p.Pro465=) c.1849C= (n.1849C=) c.3247C= (p.Pro1083=) c.3229C= (p.Pro1077=)
22	g.50721083C>G	CA515261110	SHANK3	c.2851C>G (p.Pro951Ala) n.3435C>G c.1903C>G (p.Pro635Ala) c.1393C>G (p.Pro465Ala) c.1849C>G (n.1849C>G) c.3247C>G (p.Pro1083Ala) c.3229C>G (p.Pro1077Ala)	dbSNP
22	g.50721083C>T	CA515261111	SHANK3	c.2851C>T (p.Pro951Ser) n.3435C>T c.1903C>T (p.Pro635Ser) c.1393C>T (p.Pro465Ser) c.1849C>T (n.1849C>T) c.3247C>T (p.Pro1083Ser) c.3229C>T (p.Pro1077Ser)	gnomAD v4
22	g.50721084C>A	CA515261112	SHANK3	c.2852C>A (p.Pro951Gln) n.3436C>A c.1904C>A (p.Pro635Gln) c.1394C>A (p.Pro465Gln) c.1850C>A (n.1850C>A) c.3248C>A (p.Pro1083Gln) c.3230C>A (p.Pro1077Gln)	dbSNP gnomAD v2 gnomAD v4
22	g.50721084C=	CA2411008020	SHANK3	c.2852C= (p.Pro951=) n.3436C= c.1904C= (p.Pro635=) c.1394C= (p.Pro465=) c.1850C= (n.1850C=) c.3248C= (p.Pro1083=) c.3230C= (p.Pro1077=)
22	g.50721084C>G	CA515261113	SHANK3	c.2852C>G (p.Pro951Arg) n.3436C>G c.1904C>G (p.Pro635Arg) c.1394C>G (p.Pro465Arg) c.1850C>G (n.1850C>G) c.3248C>G (p.Pro1083Arg) c.3230C>G (p.Pro1077Arg)	dbSNP gnomAD v4
22	g.50721084C>T	CA515261114	SHANK3	c.2852C>T (p.Pro951Leu) n.3436C>T c.1904C>T (p.Pro635Leu) c.1394C>T (p.Pro465Leu) c.1850C>T (n.1850C>T) c.3248C>T (p.Pro1083Leu) c.3230C>T (p.Pro1077Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721085G>A	CA10325990	SHANK3	c.2853G>A (p.Pro951=) n.3437G>A c.1905G>A (p.Pro635=) c.1395G>A (p.Pro465=) c.1851G>A (n.1851G>A) c.3249G>A (p.Pro1083=) c.3231G>A (p.Pro1077=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721085G>C	CA515261115	SHANK3	c.2853G>C (p.Pro951=) n.3437G>C c.1905G>C (p.Pro635=) c.1395G>C (p.Pro465=) c.1851G>C (n.1851G>C) c.3249G>C (p.Pro1083=) c.3231G>C (p.Pro1077=)	gnomAD v4
22	g.50721085G=	CA2411008021	SHANK3	c.2853G= (p.Pro951=) n.3437G= c.1905G= (p.Pro635=) c.1395G= (p.Pro465=) c.1851G= (n.1851G=) c.3249G= (p.Pro1083=) c.3231G= (p.Pro1077=)
22	g.50721085G>T	CA515261116	SHANK3	c.2853G>T (p.Pro951=) n.3437G>T c.1905G>T (p.Pro635=) c.1395G>T (p.Pro465=) c.1851G>T (n.1851G>T) c.3249G>T (p.Pro1083=) c.3231G>T (p.Pro1077=)	gnomAD v4
22	g.50721086A=	CA2411008023	SHANK3	c.2854A= (p.Ser952=) n.3438A= c.1906A= (p.Ser636=) c.1396A= (p.Ser466=) c.1852A= (n.1852A=) c.3250A= (p.Ser1084=) c.3232A= (p.Ser1078=)
22	g.50721086A>C	CA515261117	SHANK3	c.2854A>C (p.Ser952Arg) n.3438A>C c.1906A>C (p.Ser636Arg) c.1396A>C (p.Ser466Arg) c.1852A>C (n.1852A>C) c.3250A>C (p.Ser1084Arg) c.3232A>C (p.Ser1078Arg)
22	g.50721086A>G	CA515261118	SHANK3	c.2854A>G (p.Ser952Gly) n.3438A>G c.1906A>G (p.Ser636Gly) c.1396A>G (p.Ser466Gly) c.1852A>G (n.1852A>G) c.3250A>G (p.Ser1084Gly) c.3232A>G (p.Ser1078Gly)
22	g.50721086A>T	CA515261119	SHANK3	c.2854A>T (p.Ser952Cys) n.3438A>T c.1906A>T (p.Ser636Cys) c.1396A>T (p.Ser466Cys) c.1852A>T (n.1852A>T) c.3250A>T (p.Ser1084Cys) c.3232A>T (p.Ser1078Cys)	dbSNP gnomAD v2 gnomAD v4
22	g.50721086_50721091delinsAGCCTG	CA2411008022	SHANK3	c.2854_2859delinsAGCCTG (p.Ser952=) n.3438_3443delinsAGCCTG c.1906_1911delinsAGCCTG (p.Ser636=) c.1396_1401delinsAGCCTG (p.Ser466=) c.1852_1857delinsAGCCTG (n.1852_1857delinsAGCCTG) c.3250_3255delinsAGCCTG (p.Ser1084=) c.3232_3237delinsAGCCTG (p.Ser1078=)
22	g.50721087G>A	CA515261122	SHANK3	c.2855G>A (p.Ser952Asn) n.3439G>A c.1907G>A (p.Ser636Asn) c.1397G>A (p.Ser466Asn) c.1853G>A (n.1853G>A) c.3251G>A (p.Ser1084Asn) c.3233G>A (p.Ser1078Asn)	dbSNP gnomAD v4
22	g.50721087G>C	CA515261120	SHANK3	c.2855G>C (p.Ser952Thr) n.3439G>C c.1907G>C (p.Ser636Thr) c.1397G>C (p.Ser466Thr) c.1853G>C (n.1853G>C) c.3251G>C (p.Ser1084Thr) c.3233G>C (p.Ser1078Thr)	gnomAD v4
22	g.50721087G=	CA2411008024	SHANK3	c.2855G= (p.Ser952=) n.3439G= c.1907G= (p.Ser636=) c.1397G= (p.Ser466=) c.1853G= (n.1853G=) c.3251G= (p.Ser1084=) c.3233G= (p.Ser1078=)
22	g.50721087G>T	CA515261121	SHANK3	c.2855G>T (p.Ser952Ile) n.3439G>T c.1907G>T (p.Ser636Ile) c.1397G>T (p.Ser466Ile) c.1853G>T (n.1853G>T) c.3251G>T (p.Ser1084Ile) c.3233G>T (p.Ser1078Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721088_50721092del	CA16621140	SHANK3	c.2856_2860del (p.Ser952ArgfsTer?) n.3440_3444del c.1908_1912del (p.Ser636ArgfsTer?) c.1398_1402del (p.Ser466ArgfsTer?) c.1854_1858del (n.1854_1858del) c.3252_3256del (p.Ser1084ArgfsTer?) c.3234_3238del (p.Ser1078ArgfsTer?)	ClinVar dbSNP
22	g.50721088C>A	CA515261123	SHANK3	c.2856C>A (p.Ser952Arg) n.3440C>A c.1908C>A (p.Ser636Arg) c.1398C>A (p.Ser466Arg) c.1854C>A (n.1854C>A) c.3252C>A (p.Ser1084Arg) c.3234C>A (p.Ser1078Arg)	gnomAD v4
22	g.50721088C>G	CA515261124	SHANK3	c.2856C>G (p.Ser952Arg) n.3440C>G c.1908C>G (p.Ser636Arg) c.1398C>G (p.Ser466Arg) c.1854C>G (n.1854C>G) c.3252C>G (p.Ser1084Arg) c.3234C>G (p.Ser1078Arg)	gnomAD v4
22	g.50721088C>T	CA515261125	SHANK3	c.2856C>T (p.Ser952=) n.3440C>T c.1908C>T (p.Ser636=) c.1398C>T (p.Ser466=) c.1854C>T (n.1854C>T) c.3252C>T (p.Ser1084=) c.3234C>T (p.Ser1078=)	gnomAD v4
22	g.50721089C>A	CA515261126	SHANK3	c.2857C>A (p.Leu953Met) n.3441C>A c.1909C>A (p.Leu637Met) c.1399C>A (p.Leu467Met) c.1855C>A (n.1855C>A) c.3253C>A (p.Leu1085Met) c.3235C>A (p.Leu1079Met)	gnomAD v4
22	g.50721089C=	CA2411008025	SHANK3	c.2857C= (p.Leu953=) n.3441C= c.1909C= (p.Leu637=) c.1399C= (p.Leu467=) c.1855C= (n.1855C=) c.3253C= (p.Leu1085=) c.3235C= (p.Leu1079=)
22	g.50721089C>G	CA515261127	SHANK3	c.2857C>G (p.Leu953Val) n.3441C>G c.1909C>G (p.Leu637Val) c.1399C>G (p.Leu467Val) c.1855C>G (n.1855C>G) c.3253C>G (p.Leu1085Val) c.3235C>G (p.Leu1079Val)	dbSNP gnomAD v3 gnomAD v4
22	g.50721089C>T	CA515261128	SHANK3	c.2857C>T (p.Leu953=) n.3441C>T c.1909C>T (p.Leu637=) c.1399C>T (p.Leu467=) c.1855C>T (n.1855C>T) c.3253C>T (p.Leu1085=) c.3235C>T (p.Leu1079=)	gnomAD v4
22	g.50721090T>A	CA515261129	SHANK3	c.2858T>A (p.Leu953Gln) n.3442T>A c.1910T>A (p.Leu637Gln) c.1400T>A (p.Leu467Gln) c.1856T>A (n.1856T>A) c.3254T>A (p.Leu1085Gln) c.3236T>A (p.Leu1079Gln)
22	g.50721090T>C	CA515261130	SHANK3	c.2858T>C (p.Leu953Pro) n.3442T>C c.1910T>C (p.Leu637Pro) c.1400T>C (p.Leu467Pro) c.1856T>C (n.1856T>C) c.3254T>C (p.Leu1085Pro) c.3236T>C (p.Leu1079Pro)	gnomAD v4
22	g.50721090T>G	CA515261131	SHANK3	c.2858T>G (p.Leu953Arg) n.3442T>G c.1910T>G (p.Leu637Arg) c.1400T>G (p.Leu467Arg) c.1856T>G (n.1856T>G) c.3254T>G (p.Leu1085Arg) c.3236T>G (p.Leu1079Arg)
22	g.50721091G>A	CA515261132	SHANK3	c.2859G>A (p.Leu953=) n.3443G>A c.1911G>A (p.Leu637=) c.1401G>A (p.Leu467=) c.1857G>A (n.1857G>A) c.3255G>A (p.Leu1085=) c.3237G>A (p.Leu1079=)
22	g.50721091G>C	CA10325991	SHANK3	c.2859G>C (p.Leu953=) n.3443G>C c.1911G>C (p.Leu637=) c.1401G>C (p.Leu467=) c.1857G>C (n.1857G>C) c.3255G>C (p.Leu1085=) c.3237G>C (p.Leu1079=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721091G=	CA2411008026	SHANK3	c.2859G= (p.Leu953=) n.3443G= c.1911G= (p.Leu637=) c.1401G= (p.Leu467=) c.1857G= (n.1857G=) c.3255G= (p.Leu1085=) c.3237G= (p.Leu1079=)
22	g.50721091G>T	CA515261133	SHANK3	c.2859G>T (p.Leu953=) n.3443G>T c.1911G>T (p.Leu637=) c.1401G>T (p.Leu467=) c.1857G>T (n.1857G>T) c.3255G>T (p.Leu1085=) c.3237G>T (p.Leu1079=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721094del	CA2657583425	SHANK3	c.2862del (p.Ser956ArgfsTer?) n.3446del c.1914del (p.Ser640ArgfsTer?) c.1404del (p.Ser470ArgfsTer?) c.1860del (n.1860del) c.3258del (p.Ser1088ArgfsTer?) c.3240del (p.Ser1082ArgfsTer?)	gnomAD v4
22	g.50721092G>A	CA515261136	SHANK3	c.2860G>A (p.Gly954Arg) n.3444G>A c.1912G>A (p.Gly638Arg) c.1402G>A (p.Gly468Arg) c.1858G>A (n.1858G>A) c.3256G>A (p.Gly1086Arg) c.3238G>A (p.Gly1080Arg)
22	g.50721092G>C	CA515261135	SHANK3	c.2860G>C (p.Gly954Arg) n.3444G>C c.1912G>C (p.Gly638Arg) c.1402G>C (p.Gly468Arg) c.1858G>C (n.1858G>C) c.3256G>C (p.Gly1086Arg) c.3238G>C (p.Gly1080Arg)	gnomAD v4
22	g.50721092G>T	CA515261134	SHANK3	c.2860G>T (p.Gly954Trp) n.3444G>T c.1912G>T (p.Gly638Trp) c.1402G>T (p.Gly468Trp) c.1858G>T (n.1858G>T) c.3256G>T (p.Gly1086Trp) c.3238G>T (p.Gly1080Trp)	gnomAD v4
22	g.50721093G>A	CA515261137	SHANK3	c.2861G>A (p.Gly954Glu) n.3445G>A c.1913G>A (p.Gly638Glu) c.1403G>A (p.Gly468Glu) c.1859G>A (n.1859G>A) c.3257G>A (p.Gly1086Glu) c.3239G>A (p.Gly1080Glu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721093G>C	CA515261139	SHANK3	c.2861G>C (p.Gly954Ala) n.3445G>C c.1913G>C (p.Gly638Ala) c.1403G>C (p.Gly468Ala) c.1859G>C (n.1859G>C) c.3257G>C (p.Gly1086Ala) c.3239G>C (p.Gly1080Ala)
22	g.50721093G=	CA2411008027	SHANK3	c.2861G= (p.Gly954=) n.3445G= c.1913G= (p.Gly638=) c.1403G= (p.Gly468=) c.1859G= (n.1859G=) c.3257G= (p.Gly1086=) c.3239G= (p.Gly1080=)
22	g.50721093G>T	CA515261138	SHANK3	c.2861G>T (p.Gly954Val) n.3445G>T c.1913G>T (p.Gly638Val) c.1403G>T (p.Gly468Val) c.1859G>T (n.1859G>T) c.3257G>T (p.Gly1086Val) c.3239G>T (p.Gly1080Val)	gnomAD v4
22	g.50721094G>A	CA10325992	SHANK3	c.2862G>A (p.Gly954=) n.3446G>A c.1914G>A (p.Gly638=) c.1404G>A (p.Gly468=) c.1860G>A (n.1860G>A) c.3258G>A (p.Gly1086=) c.3240G>A (p.Gly1080=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721094G>C	CA515261141	SHANK3	c.2862G>C (p.Gly954=) n.3446G>C c.1914G>C (p.Gly638=) c.1404G>C (p.Gly468=) c.1860G>C (n.1860G>C) c.3258G>C (p.Gly1086=) c.3240G>C (p.Gly1080=)
22	g.50721094G=	CA2411008028	SHANK3	c.2862G= (p.Gly954=) n.3446G= c.1914G= (p.Gly638=) c.1404G= (p.Gly468=) c.1860G= (n.1860G=) c.3258G= (p.Gly1086=) c.3240G= (p.Gly1080=)
22	g.50721094G>T	CA515261140	SHANK3	c.2862G>T (p.Gly954=) n.3446G>T c.1914G>T (p.Gly638=) c.1404G>T (p.Gly468=) c.1860G>T (n.1860G>T) c.3258G>T (p.Gly1086=) c.3240G>T (p.Gly1080=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721095C>A	CA515261142	SHANK3	c.2863C>A (p.Pro955Thr) n.3447C>A c.1915C>A (p.Pro639Thr) c.1405C>A (p.Pro469Thr) c.1861C>A (n.1861C>A) c.3259C>A (p.Pro1087Thr) c.3241C>A (p.Pro1081Thr)	gnomAD v4
22	g.50721095C=	CA2411008029	SHANK3	c.2863C= (p.Pro955=) n.3447C= c.1915C= (p.Pro639=) c.1405C= (p.Pro469=) c.1861C= (n.1861C=) c.3259C= (p.Pro1087=) c.3241C= (p.Pro1081=)
22	g.50721095C>G	CA515261143	SHANK3	c.2863C>G (p.Pro955Ala) n.3447C>G c.1915C>G (p.Pro639Ala) c.1405C>G (p.Pro469Ala) c.1861C>G (n.1861C>G) c.3259C>G (p.Pro1087Ala) c.3241C>G (p.Pro1081Ala)
22	g.50721095C>T	CA10325993	SHANK3	c.2863C>T (p.Pro955Ser) n.3447C>T c.1915C>T (p.Pro639Ser) c.1405C>T (p.Pro469Ser) c.1861C>T (n.1861C>T) c.3259C>T (p.Pro1087Ser) c.3241C>T (p.Pro1081Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721097del	CA2657583426	SHANK3	c.2865del (p.Ser956ArgfsTer?) n.3449del c.1917del (p.Ser640ArgfsTer?) c.1407del (p.Ser470ArgfsTer?) c.1863del (n.1863del) c.3261del (p.Ser1088ArgfsTer?) c.3243del (p.Ser1082ArgfsTer?)	gnomAD v4
22	g.50721096C>A	CA515261144	SHANK3	c.2864C>A (p.Pro955His) n.3448C>A c.1916C>A (p.Pro639His) c.1406C>A (p.Pro469His) c.1862C>A (n.1862C>A) c.3260C>A (p.Pro1087His) c.3242C>A (p.Pro1081His)	gnomAD v4
22	g.50721096C=	CA2411008030	SHANK3	c.2864C= (p.Pro955=) n.3448C= c.1916C= (p.Pro639=) c.1406C= (p.Pro469=) c.1862C= (n.1862C=) c.3260C= (p.Pro1087=) c.3242C= (p.Pro1081=)
22	g.50721096C>G	CA515261145	SHANK3	c.2864C>G (p.Pro955Arg) n.3448C>G c.1916C>G (p.Pro639Arg) c.1406C>G (p.Pro469Arg) c.1862C>G (n.1862C>G) c.3260C>G (p.Pro1087Arg) c.3242C>G (p.Pro1081Arg)
22	g.50721096C>T	CA10325994	SHANK3	c.2864C>T (p.Pro955Leu) n.3448C>T c.1916C>T (p.Pro639Leu) c.1406C>T (p.Pro469Leu) c.1862C>T (n.1862C>T) c.3260C>T (p.Pro1087Leu) c.3242C>T (p.Pro1081Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721097C>A	CA515261146	SHANK3	c.2865C>A (p.Pro955=) n.3449C>A c.1917C>A (p.Pro639=) c.1407C>A (p.Pro469=) c.1863C>A (n.1863C>A) c.3261C>A (p.Pro1087=) c.3243C>A (p.Pro1081=)	COSMIC COSMIC COSMIC
22	g.50721097C=	CA2411008031	SHANK3	c.2865C= (p.Pro955=) n.3449C= c.1917C= (p.Pro639=) c.1407C= (p.Pro469=) c.1863C= (n.1863C=) c.3261C= (p.Pro1087=) c.3243C= (p.Pro1081=)
22	g.50721097C>G	CA515261147	SHANK3	c.2865C>G (p.Pro955=) n.3449C>G c.1917C>G (p.Pro639=) c.1407C>G (p.Pro469=) c.1863C>G (n.1863C>G) c.3261C>G (p.Pro1087=) c.3243C>G (p.Pro1081=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721097C>T	CA515261148	SHANK3	c.2865C>T (p.Pro955=) n.3449C>T c.1917C>T (p.Pro639=) c.1407C>T (p.Pro469=) c.1863C>T (n.1863C>T) c.3261C>T (p.Pro1087=) c.3243C>T (p.Pro1081=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721098T>A	CA515261149	SHANK3	c.2866T>A (p.Ser956Thr) n.3450T>A c.1918T>A (p.Ser640Thr) c.1408T>A (p.Ser470Thr) c.1864T>A (n.1864T>A) c.3262T>A (p.Ser1088Thr) c.3244T>A (p.Ser1082Thr)
22	g.50721098T>C	CA515261150	SHANK3	c.2866T>C (p.Ser956Pro) n.3450T>C c.1918T>C (p.Ser640Pro) c.1408T>C (p.Ser470Pro) c.1864T>C (n.1864T>C) c.3262T>C (p.Ser1088Pro) c.3244T>C (p.Ser1082Pro)
22	g.50721098T>G	CA515261151	SHANK3	c.2866T>G (p.Ser956Ala) n.3450T>G c.1918T>G (p.Ser640Ala) c.1408T>G (p.Ser470Ala) c.1864T>G (n.1864T>G) c.3262T>G (p.Ser1088Ala) c.3244T>G (p.Ser1082Ala)
22	g.50721099C>A	CA515261152	SHANK3	c.2867C>A (p.Ser956Ter) n.3451C>A c.1919C>A (p.Ser640Ter) c.1409C>A (p.Ser470Ter) c.1865C>A (n.1865C>A) c.3263C>A (p.Ser1088Ter) c.3245C>A (p.Ser1082Ter)
22	g.50721099C=	CA2411008032	SHANK3	c.2867C= (p.Ser956=) n.3451C= c.1919C= (p.Ser640=) c.1409C= (p.Ser470=) c.1865C= (n.1865C=) c.3263C= (p.Ser1088=) c.3245C= (p.Ser1082=)
22	g.50721099C>G	CA515261153	SHANK3	c.2867C>G (p.Ser956Trp) n.3451C>G c.1919C>G (p.Ser640Trp) c.1409C>G (p.Ser470Trp) c.1865C>G (n.1865C>G) c.3263C>G (p.Ser1088Trp) c.3245C>G (p.Ser1082Trp)	gnomAD v4
22	g.50721099C>T	CA10325995	SHANK3	c.2867C>T (p.Ser956Leu) n.3451C>T c.1919C>T (p.Ser640Leu) c.1409C>T (p.Ser470Leu) c.1865C>T (n.1865C>T) c.3263C>T (p.Ser1088Leu) c.3245C>T (p.Ser1082Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721100G>A	CA515261154	SHANK3	c.2868G>A (p.Ser956=) n.3452G>A c.1920G>A (p.Ser640=) c.1410G>A (p.Ser470=) c.1866G>A (n.1866G>A) c.3264G>A (p.Ser1088=) c.3246G>A (p.Ser1082=)	gnomAD v4
22	g.50721100G>C	CA515261155	SHANK3	c.2868G>C (p.Ser956=) n.3452G>C c.1920G>C (p.Ser640=) c.1410G>C (p.Ser470=) c.1866G>C (n.1866G>C) c.3264G>C (p.Ser1088=) c.3246G>C (p.Ser1082=)
22	g.50721100G>T	CA515261156	SHANK3	c.2868G>T (p.Ser956=) n.3452G>T c.1920G>T (p.Ser640=) c.1410G>T (p.Ser470=) c.1866G>T (n.1866G>T) c.3264G>T (p.Ser1088=) c.3246G>T (p.Ser1082=)	gnomAD v4
22	g.50721101G>A	CA515261157	SHANK3	c.2869G>A (p.Gly957Ser) n.3453G>A c.1921G>A (p.Gly641Ser) c.1411G>A (p.Gly471Ser) c.1867G>A (n.1867G>A) c.3265G>A (p.Gly1089Ser) c.3247G>A (p.Gly1083Ser)
22	g.50721101G>C	CA515261158	SHANK3	c.2869G>C (p.Gly957Arg) n.3453G>C c.1921G>C (p.Gly641Arg) c.1411G>C (p.Gly471Arg) c.1867G>C (n.1867G>C) c.3265G>C (p.Gly1089Arg) c.3247G>C (p.Gly1083Arg)
22	g.50721101G=	CA2411008033	SHANK3	c.2869G= (p.Gly957=) n.3453G= c.1921G= (p.Gly641=) c.1411G= (p.Gly471=) c.1867G= (n.1867G=) c.3265G= (p.Gly1089=) c.3247G= (p.Gly1083=)
22	g.50721101G>T	CA515261159	SHANK3	c.2869G>T (p.Gly957Cys) n.3453G>T c.1921G>T (p.Gly641Cys) c.1411G>T (p.Gly471Cys) c.1867G>T (n.1867G>T) c.3265G>T (p.Gly1089Cys) c.3247G>T (p.Gly1083Cys)	dbSNP
22	g.50721102G>A	CA515261160	SHANK3	c.2870G>A (p.Gly957Asp) n.3454G>A c.1922G>A (p.Gly641Asp) c.1412G>A (p.Gly471Asp) c.1868G>A (n.1868G>A) c.3266G>A (p.Gly1089Asp) c.3248G>A (p.Gly1083Asp)
22	g.50721102G>C	CA515261161	SHANK3	c.2870G>C (p.Gly957Ala) n.3454G>C c.1922G>C (p.Gly641Ala) c.1412G>C (p.Gly471Ala) c.1868G>C (n.1868G>C) c.3266G>C (p.Gly1089Ala) c.3248G>C (p.Gly1083Ala)	gnomAD v4
22	g.50721102G>T	CA515261162	SHANK3	c.2870G>T (p.Gly957Val) n.3454G>T c.1922G>T (p.Gly641Val) c.1412G>T (p.Gly471Val) c.1868G>T (n.1868G>T) c.3266G>T (p.Gly1089Val) c.3248G>T (p.Gly1083Val)
22	g.50721103T>A	CA515261164	SHANK3	c.2871T>A (p.Gly957=) n.3455T>A c.1923T>A (p.Gly641=) c.1413T>A (p.Gly471=) c.1869T>A (n.1869T>A) c.3267T>A (p.Gly1089=) c.3249T>A (p.Gly1083=)
22	g.50721103T>C	CA515261165	SHANK3	c.2871T>C (p.Gly957=) n.3455T>C c.1923T>C (p.Gly641=) c.1413T>C (p.Gly471=) c.1869T>C (n.1869T>C) c.3267T>C (p.Gly1089=) c.3249T>C (p.Gly1083=)
22	g.50721103T>G	CA515261163	SHANK3	c.2871T>G (p.Gly957=) n.3455T>G c.1923T>G (p.Gly641=) c.1413T>G (p.Gly471=) c.1869T>G (n.1869T>G) c.3267T>G (p.Gly1089=) c.3249T>G (p.Gly1083=)
22	g.50721104T>A	CA515261166	SHANK3	c.2872T>A (p.Ser958Thr) n.3456T>A c.1924T>A (p.Ser642Thr) c.1414T>A (p.Ser472Thr) c.1870T>A (n.1870T>A) c.3268T>A (p.Ser1090Thr) c.3250T>A (p.Ser1084Thr)
22	g.50721104T>C	CA515261167	SHANK3	c.2872T>C (p.Ser958Pro) n.3456T>C c.1924T>C (p.Ser642Pro) c.1414T>C (p.Ser472Pro) c.1870T>C (n.1870T>C) c.3268T>C (p.Ser1090Pro) c.3250T>C (p.Ser1084Pro)
22	g.50721104T>G	CA515261168	SHANK3	c.2872T>G (p.Ser958Ala) n.3456T>G c.1924T>G (p.Ser642Ala) c.1414T>G (p.Ser472Ala) c.1870T>G (n.1870T>G) c.3268T>G (p.Ser1090Ala) c.3250T>G (p.Ser1084Ala)	gnomAD v4
22	g.50721105C>A	CA515261169	SHANK3	c.2873C>A (p.Ser958Tyr) n.3457C>A c.1925C>A (p.Ser642Tyr) c.1415C>A (p.Ser472Tyr) c.1871C>A (n.1871C>A) c.3269C>A (p.Ser1090Tyr) c.3251C>A (p.Ser1084Tyr)
22	g.50721105C>G	CA515261170	SHANK3	c.2873C>G (p.Ser958Cys) n.3457C>G c.1925C>G (p.Ser642Cys) c.1415C>G (p.Ser472Cys) c.1871C>G (n.1871C>G) c.3269C>G (p.Ser1090Cys) c.3251C>G (p.Ser1084Cys)
22	g.50721105C>T	CA515261171	SHANK3	c.2873C>T (p.Ser958Phe) n.3457C>T c.1925C>T (p.Ser642Phe) c.1415C>T (p.Ser472Phe) c.1871C>T (n.1871C>T) c.3269C>T (p.Ser1090Phe) c.3251C>T (p.Ser1084Phe)
22	g.50721106C>A	CA515261172	SHANK3	c.2874C>A (p.Ser958=) n.3458C>A c.1926C>A (p.Ser642=) c.1416C>A (p.Ser472=) c.1872C>A (n.1872C>A) c.3270C>A (p.Ser1090=) c.3252C>A (p.Ser1084=)
22	g.50721106C=	CA2411008034	SHANK3	c.2874C= (p.Ser958=) n.3458C= c.1926C= (p.Ser642=) c.1416C= (p.Ser472=) c.1872C= (n.1872C=) c.3270C= (p.Ser1090=) c.3252C= (p.Ser1084=)
22	g.50721106C>G	CA515261173	SHANK3	c.2874C>G (p.Ser958=) n.3458C>G c.1926C>G (p.Ser642=) c.1416C>G (p.Ser472=) c.1872C>G (n.1872C>G) c.3270C>G (p.Ser1090=) c.3252C>G (p.Ser1084=)
22	g.50721106C>T	CA325578657	SHANK3	c.2874C>T (p.Ser958=) n.3458C>T c.1926C>T (p.Ser642=) c.1416C>T (p.Ser472=) c.1872C>T (n.1872C>T) c.3270C>T (p.Ser1090=) c.3252C>T (p.Ser1084=)	dbSNP gnomAD v4
22	g.50721107A>C	CA515261174	SHANK3	c.2875A>C (p.Thr959Pro) n.3459A>C c.1927A>C (p.Thr643Pro) c.1417A>C (p.Thr473Pro) c.1873A>C (n.1873A>C) c.3271A>C (p.Thr1091Pro) c.3253A>C (p.Thr1085Pro)
22	g.50721107A>G	CA515261175	SHANK3	c.2875A>G (p.Thr959Ala) n.3459A>G c.1927A>G (p.Thr643Ala) c.1417A>G (p.Thr473Ala) c.1873A>G (n.1873A>G) c.3271A>G (p.Thr1091Ala) c.3253A>G (p.Thr1085Ala)
22	g.50721107A>T	CA515261176	SHANK3	c.2875A>T (p.Thr959Ser) n.3459A>T c.1927A>T (p.Thr643Ser) c.1417A>T (p.Thr473Ser) c.1873A>T (n.1873A>T) c.3271A>T (p.Thr1091Ser) c.3253A>T (p.Thr1085Ser)
22	g.50721110_50721143del	CA2580099981	SHANK3	c.2878_2911del (p.Phe960ProfsTer?) n.3462_3495del c.1930_1963del (p.Phe644ProfsTer?) c.1420_1453del (p.Phe474ProfsTer?) c.1876_1909del (n.1876_1909del) c.3274_3307del (p.Phe1092ProfsTer?) c.3256_3289del (p.Phe1086ProfsTer?)	ClinVar
22	g.50721108C>A	CA515261179	SHANK3	c.2876C>A (p.Thr959Asn) n.3460C>A c.1928C>A (p.Thr643Asn) c.1418C>A (p.Thr473Asn) c.1874C>A (n.1874C>A) c.3272C>A (p.Thr1091Asn) c.3254C>A (p.Thr1085Asn)
22	g.50721108C=	CA2411008035	SHANK3	c.2876C= (p.Thr959=) n.3460C= c.1928C= (p.Thr643=) c.1418C= (p.Thr473=) c.1874C= (n.1874C=) c.3272C= (p.Thr1091=) c.3254C= (p.Thr1085=)
22	g.50721108C>G	CA515261177	SHANK3	c.2876C>G (p.Thr959Ser) n.3460C>G c.1928C>G (p.Thr643Ser) c.1418C>G (p.Thr473Ser) c.1874C>G (n.1874C>G) c.3272C>G (p.Thr1091Ser) c.3254C>G (p.Thr1085Ser)
22	g.50721108C>T	CA515261178	SHANK3	c.2876C>T (p.Thr959Ile) n.3460C>T c.1928C>T (p.Thr643Ile) c.1418C>T (p.Thr473Ile) c.1874C>T (n.1874C>T) c.3272C>T (p.Thr1091Ile) c.3254C>T (p.Thr1085Ile)	dbSNP gnomAD v4
22	g.50721109C>A	CA515261180	SHANK3	c.2877C>A (p.Thr959=) n.3461C>A c.1929C>A (p.Thr643=) c.1419C>A (p.Thr473=) c.1875C>A (n.1875C>A) c.3273C>A (p.Thr1091=) c.3255C>A (p.Thr1085=)	gnomAD v4
22	g.50721109C=	CA2411008036	SHANK3	c.2877C= (p.Thr959=) n.3461C= c.1929C= (p.Thr643=) c.1419C= (p.Thr473=) c.1875C= (n.1875C=) c.3273C= (p.Thr1091=) c.3255C= (p.Thr1085=)
22	g.50721109C>G	CA515261181	SHANK3	c.2877C>G (p.Thr959=) n.3461C>G c.1929C>G (p.Thr643=) c.1419C>G (p.Thr473=) c.1875C>G (n.1875C>G) c.3273C>G (p.Thr1091=) c.3255C>G (p.Thr1085=)
22	g.50721109C>T	CA10325996	SHANK3	c.2877C>T (p.Thr959=) n.3461C>T c.1929C>T (p.Thr643=) c.1419C>T (p.Thr473=) c.1875C>T (n.1875C>T) c.3273C>T (p.Thr1091=) c.3255C>T (p.Thr1085=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721110T>A	CA515261182	SHANK3	c.2878T>A (p.Phe960Ile) n.3462T>A c.1930T>A (p.Phe644Ile) c.1420T>A (p.Phe474Ile) c.1876T>A (n.1876T>A) c.3274T>A (p.Phe1092Ile) c.3256T>A (p.Phe1086Ile)
22	g.50721110T>C	CA515261183	SHANK3	c.2878T>C (p.Phe960Leu) n.3462T>C c.1930T>C (p.Phe644Leu) c.1420T>C (p.Phe474Leu) c.1876T>C (n.1876T>C) c.3274T>C (p.Phe1092Leu) c.3256T>C (p.Phe1086Leu)	gnomAD v4
22	g.50721110T>G	CA515261184	SHANK3	c.2878T>G (p.Phe960Val) n.3462T>G c.1930T>G (p.Phe644Val) c.1420T>G (p.Phe474Val) c.1876T>G (n.1876T>G) c.3274T>G (p.Phe1092Val) c.3256T>G (p.Phe1086Val)
22	g.50721111T>A	CA515261185	SHANK3	c.2879T>A (p.Phe960Tyr) n.3463T>A c.1931T>A (p.Phe644Tyr) c.1421T>A (p.Phe474Tyr) c.1877T>A (n.1877T>A) c.3275T>A (p.Phe1092Tyr) c.3257T>A (p.Phe1086Tyr)
22	g.50721111T>C	CA515261186	SHANK3	c.2879T>C (p.Phe960Ser) n.3463T>C c.1931T>C (p.Phe644Ser) c.1421T>C (p.Phe474Ser) c.1877T>C (n.1877T>C) c.3275T>C (p.Phe1092Ser) c.3257T>C (p.Phe1086Ser)
22	g.50721111T>G	CA515261187	SHANK3	c.2879T>G (p.Phe960Cys) n.3463T>G c.1931T>G (p.Phe644Cys) c.1421T>G (p.Phe474Cys) c.1877T>G (n.1877T>G) c.3275T>G (p.Phe1092Cys) c.3257T>G (p.Phe1086Cys)
22	g.50721111_50721115delinsTCATC	CA2411008037	SHANK3	c.2879_2883delinsTCATC (p.Phe960=) n.3463_3467delinsTCATC c.1931_1935delinsTCATC (p.Phe644=) c.1421_1425delinsTCATC (p.Phe474=) c.1877_1881delinsTCATC (n.1877_1881delinsTCATC) c.3275_3279delinsTCATC (p.Phe1092=) c.3257_3261delinsTCATC (p.Phe1086=)
22	g.50721112C>A	CA515261188	SHANK3	c.2880C>A (p.Phe960Leu) n.3464C>A c.1932C>A (p.Phe644Leu) c.1422C>A (p.Phe474Leu) c.1878C>A (n.1878C>A) c.3276C>A (p.Phe1092Leu) c.3258C>A (p.Phe1086Leu)
22	g.50721112C=	CA2411008038	SHANK3	c.2880C= (p.Phe960=) n.3464C= c.1932C= (p.Phe644=) c.1422C= (p.Phe474=) c.1878C= (n.1878C=) c.3276C= (p.Phe1092=) c.3258C= (p.Phe1086=)
22	g.50721112C>G	CA515261189	SHANK3	c.2880C>G (p.Phe960Leu) n.3464C>G c.1932C>G (p.Phe644Leu) c.1422C>G (p.Phe474Leu) c.1878C>G (n.1878C>G) c.3276C>G (p.Phe1092Leu) c.3258C>G (p.Phe1086Leu)
22	g.50721112C>T	CA515261190	SHANK3	c.2880C>T (p.Phe960=) n.3464C>T c.1932C>T (p.Phe644=) c.1422C>T (p.Phe474=) c.1878C>T (n.1878C>T) c.3276C>T (p.Phe1092=) c.3258C>T (p.Phe1086=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721114_50721117del	CA640359041	SHANK3	c.2882_2885del (p.Ile961ThrfsTer?) n.3466_3469del c.1934_1937del (p.Ile645ThrfsTer?) c.1424_1427del (p.Ile475ThrfsTer?) c.1880_1883del (n.1880_1883del) c.3278_3281del (p.Ile1093ThrfsTer?) c.3260_3263del (p.Ile1087ThrfsTer?)	dbSNP gnomAD v2 gnomAD v4
22	g.50721113A>C	CA515261193	SHANK3	c.2881A>C (p.Ile961Leu) n.3465A>C c.1933A>C (p.Ile645Leu) c.1423A>C (p.Ile475Leu) c.1879A>C (n.1879A>C) c.3277A>C (p.Ile1093Leu) c.3259A>C (p.Ile1087Leu)
22	g.50721113A>G	CA515261192	SHANK3	c.2881A>G (p.Ile961Val) n.3465A>G c.1933A>G (p.Ile645Val) c.1423A>G (p.Ile475Val) c.1879A>G (n.1879A>G) c.3277A>G (p.Ile1093Val) c.3259A>G (p.Ile1087Val)
22	g.50721113A>T	CA515261191	SHANK3	c.2881A>T (p.Ile961Phe) n.3465A>T c.1933A>T (p.Ile645Phe) c.1423A>T (p.Ile475Phe) c.1879A>T (n.1879A>T) c.3277A>T (p.Ile1093Phe) c.3259A>T (p.Ile1087Phe)
22	g.50721114T>A	CA515261194	SHANK3	c.2882T>A (p.Ile961Asn) n.3466T>A c.1934T>A (p.Ile645Asn) c.1424T>A (p.Ile475Asn) c.1880T>A (n.1880T>A) c.3278T>A (p.Ile1093Asn) c.3260T>A (p.Ile1087Asn)
22	g.50721114T>C	CA10325997	SHANK3	c.2882T>C (p.Ile961Thr) n.3466T>C c.1934T>C (p.Ile645Thr) c.1424T>C (p.Ile475Thr) c.1880T>C (n.1880T>C) c.3278T>C (p.Ile1093Thr) c.3260T>C (p.Ile1087Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721114T>G	CA515261195	SHANK3	c.2882T>G (p.Ile961Ser) n.3466T>G c.1934T>G (p.Ile645Ser) c.1424T>G (p.Ile475Ser) c.1880T>G (n.1880T>G) c.3278T>G (p.Ile1093Ser) c.3260T>G (p.Ile1087Ser)
22	g.50721114T=	CA2411008039	SHANK3	c.2882T= (p.Ile961=) n.3466T= c.1934T= (p.Ile645=) c.1424T= (p.Ile475=) c.1880T= (n.1880T=) c.3278T= (p.Ile1093=) c.3260T= (p.Ile1087=)
22	g.50721115C>A	CA10325998	SHANK3	c.2883C>A (p.Ile961=) n.3467C>A c.1935C>A (p.Ile645=) c.1425C>A (p.Ile475=) c.1881C>A (n.1881C>A) c.3279C>A (p.Ile1093=) c.3261C>A (p.Ile1087=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721115C=	CA2411008040	SHANK3	c.2883C= (p.Ile961=) n.3467C= c.1935C= (p.Ile645=) c.1425C= (p.Ile475=) c.1881C= (n.1881C=) c.3279C= (p.Ile1093=) c.3261C= (p.Ile1087=)
22	g.50721115C>G	CA515261196	SHANK3	c.2883C>G (p.Ile961Met) n.3467C>G c.1935C>G (p.Ile645Met) c.1425C>G (p.Ile475Met) c.1881C>G (n.1881C>G) c.3279C>G (p.Ile1093Met) c.3261C>G (p.Ile1087Met)	gnomAD v4
22	g.50721115C>T	CA515261197	SHANK3	c.2883C>T (p.Ile961=) n.3467C>T c.1935C>T (p.Ile645=) c.1425C>T (p.Ile475=) c.1881C>T (n.1881C>T) c.3279C>T (p.Ile1093=) c.3261C>T (p.Ile1087=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721116C>A	CA515261200	SHANK3	c.2884C>A (p.His962Asn) n.3468C>A c.1936C>A (p.His646Asn) c.1426C>A (p.His476Asn) c.1882C>A (n.1882C>A) c.3280C>A (p.His1094Asn) c.3262C>A (p.His1088Asn)
22	g.50721116C=	CA2411008041	SHANK3	c.2884C= (p.His962=) n.3468C= c.1936C= (p.His646=) c.1426C= (p.His476=) c.1882C= (n.1882C=) c.3280C= (p.His1094=) c.3262C= (p.His1088=)
22	g.50721116C>G	CA515261199	SHANK3	c.2884C>G (p.His962Asp) n.3468C>G c.1936C>G (p.His646Asp) c.1426C>G (p.His476Asp) c.1882C>G (n.1882C>G) c.3280C>G (p.His1094Asp) c.3262C>G (p.His1088Asp)
22	g.50721116C>T	CA515261198	SHANK3	c.2884C>T (p.His962Tyr) n.3468C>T c.1936C>T (p.His646Tyr) c.1426C>T (p.His476Tyr) c.1882C>T (n.1882C>T) c.3280C>T (p.His1094Tyr) c.3262C>T (p.His1088Tyr)	dbSNP gnomAD v2 gnomAD v4
22	g.50721117A>C	CA515261201	SHANK3	c.2885A>C (p.His962Pro) n.3469A>C c.1937A>C (p.His646Pro) c.1427A>C (p.His476Pro) c.1883A>C (n.1883A>C) c.3281A>C (p.His1094Pro) c.3263A>C (p.His1088Pro)
22	g.50721117A>G	CA515261202	SHANK3	c.2885A>G (p.His962Arg) n.3469A>G c.1937A>G (p.His646Arg) c.1427A>G (p.His476Arg) c.1883A>G (n.1883A>G) c.3281A>G (p.His1094Arg) c.3263A>G (p.His1088Arg)
22	g.50721117A>T	CA515261203	SHANK3	c.2885A>T (p.His962Leu) n.3469A>T c.1937A>T (p.His646Leu) c.1427A>T (p.His476Leu) c.1883A>T (n.1883A>T) c.3281A>T (p.His1094Leu) c.3263A>T (p.His1088Leu)
22	g.50721118C>A	CA515261204	SHANK3	c.2886C>A (p.His962Gln) n.3470C>A c.1938C>A (p.His646Gln) c.1428C>A (p.His476Gln) c.1884C>A (n.1884C>A) c.3282C>A (p.His1094Gln) c.3264C>A (p.His1088Gln)
22	g.50721118C=	CA2411008042	SHANK3	c.2886C= (p.His962=) n.3470C= c.1938C= (p.His646=) c.1428C= (p.His476=) c.1884C= (n.1884C=) c.3282C= (p.His1094=) c.3264C= (p.His1088=)
22	g.50721118C>G	CA515261205	SHANK3	c.2886C>G (p.His962Gln) n.3470C>G c.1938C>G (p.His646Gln) c.1428C>G (p.His476Gln) c.1884C>G (n.1884C>G) c.3282C>G (p.His1094Gln) c.3264C>G (p.His1088Gln)
22	g.50721118C>T	CA515261206	SHANK3	c.2886C>T (p.His962=) n.3470C>T c.1938C>T (p.His646=) c.1428C>T (p.His476=) c.1884C>T (n.1884C>T) c.3282C>T (p.His1094=) c.3264C>T (p.His1088=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721120del	CA2657583427	SHANK3	c.2888del (p.Pro963HisfsTer?) n.3472del c.1940del (p.Pro647HisfsTer?) c.1430del (p.Pro477HisfsTer?) c.1886del (n.1886del) c.3284del (p.Pro1095HisfsTer?) c.3266del (p.Pro1089HisfsTer?)	gnomAD v4
22	g.50721119C>A	CA515261207	SHANK3	c.2887C>A (p.Pro963Thr) n.3471C>A c.1939C>A (p.Pro647Thr) c.1429C>A (p.Pro477Thr) c.1885C>A (n.1885C>A) c.3283C>A (p.Pro1095Thr) c.3265C>A (p.Pro1089Thr)	gnomAD v4
22	g.50721119C>G	CA515261209	SHANK3	c.2887C>G (p.Pro963Ala) n.3471C>G c.1939C>G (p.Pro647Ala) c.1429C>G (p.Pro477Ala) c.1885C>G (n.1885C>G) c.3283C>G (p.Pro1095Ala) c.3265C>G (p.Pro1089Ala)
22	g.50721119C>T	CA515261208	SHANK3	c.2887C>T (p.Pro963Ser) n.3471C>T c.1939C>T (p.Pro647Ser) c.1429C>T (p.Pro477Ser) c.1885C>T (n.1885C>T) c.3283C>T (p.Pro1095Ser) c.3265C>T (p.Pro1089Ser)
22	g.50721120C>A	CA515261210	SHANK3	c.2888C>A (p.Pro963Gln) n.3472C>A c.1940C>A (p.Pro647Gln) c.1430C>A (p.Pro477Gln) c.1886C>A (n.1886C>A) c.3284C>A (p.Pro1095Gln) c.3266C>A (p.Pro1089Gln)	gnomAD v4
22	g.50721120C=	CA2411008043	SHANK3	c.2888C= (p.Pro963=) n.3472C= c.1940C= (p.Pro647=) c.1430C= (p.Pro477=) c.1886C= (n.1886C=) c.3284C= (p.Pro1095=) c.3266C= (p.Pro1089=)
22	g.50721120C>G	CA515261211	SHANK3	c.2888C>G (p.Pro963Arg) n.3472C>G c.1940C>G (p.Pro647Arg) c.1430C>G (p.Pro477Arg) c.1886C>G (n.1886C>G) c.3284C>G (p.Pro1095Arg) c.3266C>G (p.Pro1089Arg)
22	g.50721120C>T	CA325578675	SHANK3	c.2888C>T (p.Pro963Leu) n.3472C>T c.1940C>T (p.Pro647Leu) c.1430C>T (p.Pro477Leu) c.1886C>T (n.1886C>T) c.3284C>T (p.Pro1095Leu) c.3266C>T (p.Pro1089Leu)	dbSNP gnomAD v4
22	g.50721121_50721122dup	CA2740130112	SHANK3	c.2889_2890dup (p.Leu964HisfsTer?) n.3473_3474dup c.1941_1942dup (p.Leu648HisfsTer?) c.1431_1432dup (p.Leu478HisfsTer?) c.1887_1888dup (n.1887_1888dup) c.3285_3286dup (p.Leu1096HisfsTer?) c.3267_3268dup (p.Leu1090HisfsTer?)
22	g.50721121A>C	CA515261212	SHANK3	c.2889A>C (p.Pro963=) n.3473A>C c.1941A>C (p.Pro647=) c.1431A>C (p.Pro477=) c.1887A>C (n.1887A>C) c.3285A>C (p.Pro1095=) c.3267A>C (p.Pro1089=)
22	g.50721121A>G	CA515261213	SHANK3	c.2889A>G (p.Pro963=) n.3473A>G c.1941A>G (p.Pro647=) c.1431A>G (p.Pro477=) c.1887A>G (n.1887A>G) c.3285A>G (p.Pro1095=) c.3267A>G (p.Pro1089=)	gnomAD v4
22	g.50721121A>T	CA515261214	SHANK3	c.2889A>T (p.Pro963=) n.3473A>T c.1941A>T (p.Pro647=) c.1431A>T (p.Pro477=) c.1887A>T (n.1887A>T) c.3285A>T (p.Pro1095=) c.3267A>T (p.Pro1089=)
22	g.50721122C>A	CA515261215	SHANK3	c.2890C>A (p.Leu964Ile) n.3474C>A c.1942C>A (p.Leu648Ile) c.1432C>A (p.Leu478Ile) c.1888C>A (n.1888C>A) c.3286C>A (p.Leu1096Ile) c.3268C>A (p.Leu1090Ile)
22	g.50721122C>G	CA515261216	SHANK3	c.2890C>G (p.Leu964Val) n.3474C>G c.1942C>G (p.Leu648Val) c.1432C>G (p.Leu478Val) c.1888C>G (n.1888C>G) c.3286C>G (p.Leu1096Val) c.3268C>G (p.Leu1090Val)
22	g.50721122C>T	CA515261217	SHANK3	c.2890C>T (p.Leu964Phe) n.3474C>T c.1942C>T (p.Leu648Phe) c.1432C>T (p.Leu478Phe) c.1888C>T (n.1888C>T) c.3286C>T (p.Leu1096Phe) c.3268C>T (p.Leu1090Phe)
22	g.50721123T>A	CA515261218	SHANK3	c.2891T>A (p.Leu964His) n.3475T>A c.1943T>A (p.Leu648His) c.1433T>A (p.Leu478His) c.1889T>A (n.1889T>A) c.3287T>A (p.Leu1096His) c.3269T>A (p.Leu1090His)
22	g.50721123T>C	CA515261219	SHANK3	c.2891T>C (p.Leu964Pro) n.3475T>C c.1943T>C (p.Leu648Pro) c.1433T>C (p.Leu478Pro) c.1889T>C (n.1889T>C) c.3287T>C (p.Leu1096Pro) c.3269T>C (p.Leu1090Pro)
22	g.50721123T>G	CA515261220	SHANK3	c.2891T>G (p.Leu964Arg) n.3475T>G c.1943T>G (p.Leu648Arg) c.1433T>G (p.Leu478Arg) c.1889T>G (n.1889T>G) c.3287T>G (p.Leu1096Arg) c.3269T>G (p.Leu1090Arg)
22	g.50721124C>A	CA515261221	SHANK3	c.2892C>A (p.Leu964=) n.3476C>A c.1944C>A (p.Leu648=) c.1434C>A (p.Leu478=) c.1890C>A (n.1890C>A) c.3288C>A (p.Leu1096=) c.3270C>A (p.Leu1090=)	gnomAD v4
22	g.50721124C=	CA2411008044	SHANK3	c.2892C= (p.Leu964=) n.3476C= c.1944C= (p.Leu648=) c.1434C= (p.Leu478=) c.1890C= (n.1890C=) c.3288C= (p.Leu1096=) c.3270C= (p.Leu1090=)
22	g.50721124C>G	CA515261223	SHANK3	c.2892C>G (p.Leu964=) n.3476C>G c.1944C>G (p.Leu648=) c.1434C>G (p.Leu478=) c.1890C>G (n.1890C>G) c.3288C>G (p.Leu1096=) c.3270C>G (p.Leu1090=)
22	g.50721124C>T	CA515261222	SHANK3	c.2892C>T (p.Leu964=) n.3476C>T c.1944C>T (p.Leu648=) c.1434C>T (p.Leu478=) c.1890C>T (n.1890C>T) c.3288C>T (p.Leu1096=) c.3270C>T (p.Leu1090=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721125A>C	CA515261224	SHANK3	c.2893A>C (p.Thr965Pro) n.3477A>C c.1945A>C (p.Thr649Pro) c.1435A>C (p.Thr479Pro) c.1891A>C (n.1891A>C) c.3289A>C (p.Thr1097Pro) c.3271A>C (p.Thr1091Pro)
22	g.50721125A>G	CA515261225	SHANK3	c.2893A>G (p.Thr965Ala) n.3477A>G c.1945A>G (p.Thr649Ala) c.1435A>G (p.Thr479Ala) c.1891A>G (n.1891A>G) c.3289A>G (p.Thr1097Ala) c.3271A>G (p.Thr1091Ala)	gnomAD v4
22	g.50721125A>T	CA515261226	SHANK3	c.2893A>T (p.Thr965Ser) n.3477A>T c.1945A>T (p.Thr649Ser) c.1435A>T (p.Thr479Ser) c.1891A>T (n.1891A>T) c.3289A>T (p.Thr1097Ser) c.3271A>T (p.Thr1091Ser)
22	g.50721126C>A	CA515261227	SHANK3	c.2894C>A (p.Thr965Asn) n.3478C>A c.1946C>A (p.Thr649Asn) c.1436C>A (p.Thr479Asn) c.1892C>A (n.1892C>A) c.3290C>A (p.Thr1097Asn) c.3272C>A (p.Thr1091Asn)
22	g.50721126C>G	CA515261228	SHANK3	c.2894C>G (p.Thr965Ser) n.3478C>G c.1946C>G (p.Thr649Ser) c.1436C>G (p.Thr479Ser) c.1892C>G (n.1892C>G) c.3290C>G (p.Thr1097Ser) c.3272C>G (p.Thr1091Ser)
22	g.50721126C>T	CA515261229	SHANK3	c.2894C>T (p.Thr965Ile) n.3478C>T c.1946C>T (p.Thr649Ile) c.1436C>T (p.Thr479Ile) c.1892C>T (n.1892C>T) c.3290C>T (p.Thr1097Ile) c.3272C>T (p.Thr1091Ile)	gnomAD v4
22	g.50721127C>A	CA515261230	SHANK3	c.2895C>A (p.Thr965=) n.3479C>A c.1947C>A (p.Thr649=) c.1437C>A (p.Thr479=) c.1893C>A (n.1893C>A) c.3291C>A (p.Thr1097=) c.3273C>A (p.Thr1091=)	gnomAD v4
22	g.50721127C=	CA2411008045	SHANK3	c.2895C= (p.Thr965=) n.3479C= c.1947C= (p.Thr649=) c.1437C= (p.Thr479=) c.1893C= (n.1893C=) c.3291C= (p.Thr1097=) c.3273C= (p.Thr1091=)
22	g.50721127C>G	CA515261231	SHANK3	c.2895C>G (p.Thr965=) n.3479C>G c.1947C>G (p.Thr649=) c.1437C>G (p.Thr479=) c.1893C>G (n.1893C>G) c.3291C>G (p.Thr1097=) c.3273C>G (p.Thr1091=)
22	g.50721127C>T	CA515261232	SHANK3	c.2895C>T (p.Thr965=) n.3479C>T c.1947C>T (p.Thr649=) c.1437C>T (p.Thr479=) c.1893C>T (n.1893C>T) c.3291C>T (p.Thr1097=) c.3273C>T (p.Thr1091=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721128G>A	CA515261233	SHANK3	c.2896G>A (p.Gly966Ser) n.3480G>A c.1948G>A (p.Gly650Ser) c.1438G>A (p.Gly480Ser) c.1894G>A (n.1894G>A) c.3292G>A (p.Gly1098Ser) c.3274G>A (p.Gly1092Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50721128G>C	CA515261234	SHANK3	c.2896G>C (p.Gly966Arg) n.3480G>C c.1948G>C (p.Gly650Arg) c.1438G>C (p.Gly480Arg) c.1894G>C (n.1894G>C) c.3292G>C (p.Gly1098Arg) c.3274G>C (p.Gly1092Arg)
22	g.50721128G=	CA2411008046	SHANK3	c.2896G= (p.Gly966=) n.3480G= c.1948G= (p.Gly650=) c.1438G= (p.Gly480=) c.1894G= (n.1894G=) c.3292G= (p.Gly1098=) c.3274G= (p.Gly1092=)
22	g.50721128G>T	CA515261235	SHANK3	c.2896G>T (p.Gly966Cys) n.3480G>T c.1948G>T (p.Gly650Cys) c.1438G>T (p.Gly480Cys) c.1894G>T (n.1894G>T) c.3292G>T (p.Gly1098Cys) c.3274G>T (p.Gly1092Cys)	gnomAD v4
22	g.50721129G>A	CA515261238	SHANK3	c.2897G>A (p.Gly966Asp) n.3481G>A c.1949G>A (p.Gly650Asp) c.1439G>A (p.Gly480Asp) c.1895G>A (n.1895G>A) c.3293G>A (p.Gly1098Asp) c.3275G>A (p.Gly1092Asp)	gnomAD v4
22	g.50721129G>C	CA515261236	SHANK3	c.2897G>C (p.Gly966Ala) n.3481G>C c.1949G>C (p.Gly650Ala) c.1439G>C (p.Gly480Ala) c.1895G>C (n.1895G>C) c.3293G>C (p.Gly1098Ala) c.3275G>C (p.Gly1092Ala)	gnomAD v4
22	g.50721129G>T	CA515261237	SHANK3	c.2897G>T (p.Gly966Val) n.3481G>T c.1949G>T (p.Gly650Val) c.1439G>T (p.Gly480Val) c.1895G>T (n.1895G>T) c.3293G>T (p.Gly1098Val) c.3275G>T (p.Gly1092Val)	gnomAD v4
22	g.50721130C>A	CA515261239	SHANK3	c.2898C>A (p.Gly966=) n.3482C>A c.1950C>A (p.Gly650=) c.1440C>A (p.Gly480=) c.1896C>A (n.1896C>A) c.3294C>A (p.Gly1098=) c.3276C>A (p.Gly1092=)	gnomAD v4
22	g.50721130C>G	CA515261240	SHANK3	c.2898C>G (p.Gly966=) n.3482C>G c.1950C>G (p.Gly650=) c.1440C>G (p.Gly480=) c.1896C>G (n.1896C>G) c.3294C>G (p.Gly1098=) c.3276C>G (p.Gly1092=)
22	g.50721130C>T	CA515261241	SHANK3	c.2898C>T (p.Gly966=) n.3482C>T c.1950C>T (p.Gly650=) c.1440C>T (p.Gly480=) c.1896C>T (n.1896C>T) c.3294C>T (p.Gly1098=) c.3276C>T (p.Gly1092=)	gnomAD v4
22	g.50721131A=	CA2411008047	SHANK3	c.2899A= (p.Lys967=) n.3483A= c.1951A= (p.Lys651=) c.1441A= (p.Lys481=) c.1897A= (n.1897A=) c.3295A= (p.Lys1099=) c.3277A= (p.Lys1093=)
22	g.50721131A>C	CA515261242	SHANK3	c.2899A>C (p.Lys967Gln) n.3483A>C c.1951A>C (p.Lys651Gln) c.1441A>C (p.Lys481Gln) c.1897A>C (n.1897A>C) c.3295A>C (p.Lys1099Gln) c.3277A>C (p.Lys1093Gln)	gnomAD v4
22	g.50721131A>G	CA515261243	SHANK3	c.2899A>G (p.Lys967Glu) n.3483A>G c.1951A>G (p.Lys651Glu) c.1441A>G (p.Lys481Glu) c.1897A>G (n.1897A>G) c.3295A>G (p.Lys1099Glu) c.3277A>G (p.Lys1093Glu)	dbSNP gnomAD v2
22	g.50721131A>T	CA515261244	SHANK3	c.2899A>T (p.Lys967Ter) n.3483A>T c.1951A>T (p.Lys651Ter) c.1441A>T (p.Lys481Ter) c.1897A>T (n.1897A>T) c.3295A>T (p.Lys1099Ter) c.3277A>T (p.Lys1093Ter)
22	g.50721132A>C	CA515261245	SHANK3	c.2900A>C (p.Lys967Thr) n.3484A>C c.1952A>C (p.Lys651Thr) c.1442A>C (p.Lys481Thr) c.1898A>C (n.1898A>C) c.3296A>C (p.Lys1099Thr) c.3278A>C (p.Lys1093Thr)	gnomAD v4
22	g.50721132A>G	CA515261246	SHANK3	c.2900A>G (p.Lys967Arg) n.3484A>G c.1952A>G (p.Lys651Arg) c.1442A>G (p.Lys481Arg) c.1898A>G (n.1898A>G) c.3296A>G (p.Lys1099Arg) c.3278A>G (p.Lys1093Arg)
22	g.50721132A>T	CA515261247	SHANK3	c.2900A>T (p.Lys967Ile) n.3484A>T c.1952A>T (p.Lys651Ile) c.1442A>T (p.Lys481Ile) c.1898A>T (n.1898A>T) c.3296A>T (p.Lys1099Ile) c.3278A>T (p.Lys1093Ile)
22	g.50721132_50721150delinsAACCCCTGGACCCCAGCTC	CA2411008048	SHANK3	c.2900_2918delinsAACCCCTGGACCCCAGCTC (p.Lys967=) n.3484_3502delinsAACCCCTGGACCCCAGCTC c.1952_1970delinsAACCCCTGGACCCCAGCTC (p.Lys651=) c.1442_1460delinsAACCCCTGGACCCCAGCTC (p.Lys481=) c.1898_1916delinsAACCCCTGGACCCCAGCTC (n.1898_1916delinsAACCCCTGGACCCCAGCTC) c.3296_3314delinsAACCCCTGGACCCCAGCTC (p.Lys1099=) c.3278_3296delinsAACCCCTGGACCCCAGCTC (p.Lys1093=)
22	g.50721133A=	CA2411008050	SHANK3	c.2901A= (p.Lys967=) n.3485A= c.1953A= (p.Lys651=) c.1443A= (p.Lys481=) c.1899A= (n.1899A=) c.3297A= (p.Lys1099=) c.3279A= (p.Lys1093=)
22	g.50721133A>C	CA515261248	SHANK3	c.2901A>C (p.Lys967Asn) n.3485A>C c.1953A>C (p.Lys651Asn) c.1443A>C (p.Lys481Asn) c.1899A>C (n.1899A>C) c.3297A>C (p.Lys1099Asn) c.3279A>C (p.Lys1093Asn)
22	g.50721133A>G	CA515261249	SHANK3	c.2901A>G (p.Lys967=) n.3485A>G c.1953A>G (p.Lys651=) c.1443A>G (p.Lys481=) c.1899A>G (n.1899A>G) c.3297A>G (p.Lys1099=) c.3279A>G (p.Lys1093=)	dbSNP gnomAD v4
22	g.50721133A>T	CA515261250	SHANK3	c.2901A>T (p.Lys967Asn) n.3485A>T c.1953A>T (p.Lys651Asn) c.1443A>T (p.Lys481Asn) c.1899A>T (n.1899A>T) c.3297A>T (p.Lys1099Asn) c.3279A>T (p.Lys1093Asn)
22	g.50721141_50721158del	CA2411008049	SHANK3	c.2909_2926del (p.Asp970_Leu975del) n.3493_3510del c.1961_1978del (p.Asp654_Leu659del) c.1451_1468del (p.Asp484_Leu489del) c.1907_1924del (n.1907_1924del) c.3305_3322del (p.Asp1102_Leu1107del) c.3287_3304del (p.Asp1096_Leu1101del)	dbSNP
22	g.50721134C>A	CA515261252	SHANK3	c.2902C>A (p.Pro968Thr) n.3486C>A c.1954C>A (p.Pro652Thr) c.1444C>A (p.Pro482Thr) c.1900C>A (n.1900C>A) c.3298C>A (p.Pro1100Thr) c.3280C>A (p.Pro1094Thr)
22	g.50721134C=	CA2411008051	SHANK3	c.2902C= (p.Pro968=) n.3486C= c.1954C= (p.Pro652=) c.1444C= (p.Pro482=) c.1900C= (n.1900C=) c.3298C= (p.Pro1100=) c.3280C= (p.Pro1094=)
22	g.50721134C>G	CA515261253	SHANK3	c.2902C>G (p.Pro968Ala) n.3486C>G c.1954C>G (p.Pro652Ala) c.1444C>G (p.Pro482Ala) c.1900C>G (n.1900C>G) c.3298C>G (p.Pro1100Ala) c.3280C>G (p.Pro1094Ala)	ClinVar dbSNP gnomAD v4
22	g.50721134C>T	CA515261251	SHANK3	c.2902C>T (p.Pro968Ser) n.3486C>T c.1954C>T (p.Pro652Ser) c.1444C>T (p.Pro482Ser) c.1900C>T (n.1900C>T) c.3298C>T (p.Pro1100Ser) c.3280C>T (p.Pro1094Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721135C>A	CA515261255	SHANK3	c.2903C>A (p.Pro968His) n.3487C>A c.1955C>A (p.Pro652His) c.1445C>A (p.Pro482His) c.1901C>A (n.1901C>A) c.3299C>A (p.Pro1100His) c.3281C>A (p.Pro1094His)	gnomAD v4
22	g.50721135C=	CA2411008052	SHANK3	c.2903C= (p.Pro968=) n.3487C= c.1955C= (p.Pro652=) c.1445C= (p.Pro482=) c.1901C= (n.1901C=) c.3299C= (p.Pro1100=) c.3281C= (p.Pro1094=)
22	g.50721135C>G	CA515261254	SHANK3	c.2903C>G (p.Pro968Arg) n.3487C>G c.1955C>G (p.Pro652Arg) c.1445C>G (p.Pro482Arg) c.1901C>G (n.1901C>G) c.3299C>G (p.Pro1100Arg) c.3281C>G (p.Pro1094Arg)
22	g.50721135C>T	CA10325999	SHANK3	c.2903C>T (p.Pro968Leu) n.3487C>T c.1955C>T (p.Pro652Leu) c.1445C>T (p.Pro482Leu) c.1901C>T (n.1901C>T) c.3299C>T (p.Pro1100Leu) c.3281C>T (p.Pro1094Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721136C>A	CA515261256	SHANK3	c.2904C>A (p.Pro968=) n.3488C>A c.1956C>A (p.Pro652=) c.1446C>A (p.Pro482=) c.1902C>A (n.1902C>A) c.3300C>A (p.Pro1100=) c.3282C>A (p.Pro1094=)
22	g.50721136C=	CA2411008053	SHANK3	c.2904C= (p.Pro968=) n.3488C= c.1956C= (p.Pro652=) c.1446C= (p.Pro482=) c.1902C= (n.1902C=) c.3300C= (p.Pro1100=) c.3282C= (p.Pro1094=)
22	g.50721136C>G	CA515261257	SHANK3	c.2904C>G (p.Pro968=) n.3488C>G c.1956C>G (p.Pro652=) c.1446C>G (p.Pro482=) c.1902C>G (n.1902C>G) c.3300C>G (p.Pro1100=) c.3282C>G (p.Pro1094=)
22	g.50721136C>T	CA10326000	SHANK3	c.2904C>T (p.Pro968=) n.3488C>T c.1956C>T (p.Pro652=) c.1446C>T (p.Pro482=) c.1902C>T (n.1902C>T) c.3300C>T (p.Pro1100=) c.3282C>T (p.Pro1094=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721137C>A	CA515261258	SHANK3	c.2905C>A (p.Leu969Met) n.3489C>A c.1957C>A (p.Leu653Met) c.1447C>A (p.Leu483Met) c.1903C>A (n.1903C>A) c.3301C>A (p.Leu1101Met) c.3283C>A (p.Leu1095Met)	gnomAD v4
22	g.50721137C=	CA2411008054	SHANK3	c.2905C= (p.Leu969=) n.3489C= c.1957C= (p.Leu653=) c.1447C= (p.Leu483=) c.1903C= (n.1903C=) c.3301C= (p.Leu1101=) c.3283C= (p.Leu1095=)
22	g.50721137C>G	CA515261259	SHANK3	c.2905C>G (p.Leu969Val) n.3489C>G c.1957C>G (p.Leu653Val) c.1447C>G (p.Leu483Val) c.1903C>G (n.1903C>G) c.3301C>G (p.Leu1101Val) c.3283C>G (p.Leu1095Val)
22	g.50721137C>T	CA325578687	SHANK3	c.2905C>T (p.Leu969=) n.3489C>T c.1957C>T (p.Leu653=) c.1447C>T (p.Leu483=) c.1903C>T (n.1903C>T) c.3301C>T (p.Leu1101=) c.3283C>T (p.Leu1095=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721138T>A	CA515261260	SHANK3	c.2906T>A (p.Leu969Gln) n.3490T>A c.1958T>A (p.Leu653Gln) c.1448T>A (p.Leu483Gln) c.1904T>A (n.1904T>A) c.3302T>A (p.Leu1101Gln) c.3284T>A (p.Leu1095Gln)
22	g.50721138T>C	CA515261261	SHANK3	c.2906T>C (p.Leu969Pro) n.3490T>C c.1958T>C (p.Leu653Pro) c.1448T>C (p.Leu483Pro) c.1904T>C (n.1904T>C) c.3302T>C (p.Leu1101Pro) c.3284T>C (p.Leu1095Pro)
22	g.50721138T>G	CA515261262	SHANK3	c.2906T>G (p.Leu969Arg) n.3490T>G c.1958T>G (p.Leu653Arg) c.1448T>G (p.Leu483Arg) c.1904T>G (n.1904T>G) c.3302T>G (p.Leu1101Arg) c.3284T>G (p.Leu1095Arg)	gnomAD v4
22	g.50721139G>A	CA515261263	SHANK3	c.2907G>A (p.Leu969=) n.3491G>A c.1959G>A (p.Leu653=) c.1449G>A (p.Leu483=) c.1905G>A (n.1905G>A) c.3303G>A (p.Leu1101=) c.3285G>A (p.Leu1095=)	gnomAD v4
22	g.50721139G>C	CA515261264	SHANK3	c.2907G>C (p.Leu969=) n.3491G>C c.1959G>C (p.Leu653=) c.1449G>C (p.Leu483=) c.1905G>C (n.1905G>C) c.3303G>C (p.Leu1101=) c.3285G>C (p.Leu1095=)
22	g.50721139G>T	CA515261265	SHANK3	c.2907G>T (p.Leu969=) n.3491G>T c.1959G>T (p.Leu653=) c.1449G>T (p.Leu483=) c.1905G>T (n.1905G>T) c.3303G>T (p.Leu1101=) c.3285G>T (p.Leu1095=)	gnomAD v4
22	g.50721140G>A	CA515261266	SHANK3	c.2908G>A (p.Asp970Asn) n.3492G>A c.1960G>A (p.Asp654Asn) c.1450G>A (p.Asp484Asn) c.1906G>A (n.1906G>A) c.3304G>A (p.Asp1102Asn) c.3286G>A (p.Asp1096Asn)
22	g.50721140G>C	CA515261267	SHANK3	c.2908G>C (p.Asp970His) n.3492G>C c.1960G>C (p.Asp654His) c.1450G>C (p.Asp484His) c.1906G>C (n.1906G>C) c.3304G>C (p.Asp1102His) c.3286G>C (p.Asp1096His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721140G=	CA2411008055	SHANK3	c.2908G= (p.Asp970=) n.3492G= c.1960G= (p.Asp654=) c.1450G= (p.Asp484=) c.1906G= (n.1906G=) c.3304G= (p.Asp1102=) c.3286G= (p.Asp1096=)
22	g.50721140G>T	CA515261268	SHANK3	c.2908G>T (p.Asp970Tyr) n.3492G>T c.1960G>T (p.Asp654Tyr) c.1450G>T (p.Asp484Tyr) c.1906G>T (n.1906G>T) c.3304G>T (p.Asp1102Tyr) c.3286G>T (p.Asp1096Tyr)	gnomAD v4
22	g.50721141A>C	CA515261269	SHANK3	c.2909A>C (p.Asp970Ala) n.3493A>C c.1961A>C (p.Asp654Ala) c.1451A>C (p.Asp484Ala) c.1907A>C (n.1907A>C) c.3305A>C (p.Asp1102Ala) c.3287A>C (p.Asp1096Ala)
22	g.50721141A>G	CA515261270	SHANK3	c.2909A>G (p.Asp970Gly) n.3493A>G c.1961A>G (p.Asp654Gly) c.1451A>G (p.Asp484Gly) c.1907A>G (n.1907A>G) c.3305A>G (p.Asp1102Gly) c.3287A>G (p.Asp1096Gly)
22	g.50721141A>T	CA515261271	SHANK3	c.2909A>T (p.Asp970Val) n.3493A>T c.1961A>T (p.Asp654Val) c.1451A>T (p.Asp484Val) c.1907A>T (n.1907A>T) c.3305A>T (p.Asp1102Val) c.3287A>T (p.Asp1096Val)
22	g.50721142C>A	CA515261272	SHANK3	c.2910C>A (p.Asp970Glu) n.3494C>A c.1962C>A (p.Asp654Glu) c.1452C>A (p.Asp484Glu) c.1908C>A (n.1908C>A) c.3306C>A (p.Asp1102Glu) c.3288C>A (p.Asp1096Glu)	gnomAD v4
22	g.50721142C=	CA2411008056	SHANK3	c.2910C= (p.Asp970=) n.3494C= c.1962C= (p.Asp654=) c.1452C= (p.Asp484=) c.1908C= (n.1908C=) c.3306C= (p.Asp1102=) c.3288C= (p.Asp1096=)
22	g.50721142C>G	CA515261273	SHANK3	c.2910C>G (p.Asp970Glu) n.3494C>G c.1962C>G (p.Asp654Glu) c.1452C>G (p.Asp484Glu) c.1908C>G (n.1908C>G) c.3306C>G (p.Asp1102Glu) c.3288C>G (p.Asp1096Glu)	gnomAD v4
22	g.50721142C>T	CA10326001	SHANK3	c.2910C>T (p.Asp970=) n.3494C>T c.1962C>T (p.Asp654=) c.1452C>T (p.Asp484=) c.1908C>T (n.1908C>T) c.3306C>T (p.Asp1102=) c.3288C>T (p.Asp1096=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721145del	CA2657583428	SHANK3	c.2913del (p.Ser972AlafsTer?) n.3497del c.1965del (p.Ser656AlafsTer?) c.1455del (p.Ser486AlafsTer?) c.1911del (n.1911del) c.3309del (p.Ser1104AlafsTer?) c.3291del (p.Ser1098AlafsTer?)	gnomAD v4
22	g.50721143C>A	CA515261274	SHANK3	c.2911C>A (p.Pro971Thr) n.3495C>A c.1963C>A (p.Pro655Thr) c.1453C>A (p.Pro485Thr) c.1909C>A (n.1909C>A) c.3307C>A (p.Pro1103Thr) c.3289C>A (p.Pro1097Thr)	gnomAD v4
22	g.50721143C>G	CA515261275	SHANK3	c.2911C>G (p.Pro971Ala) n.3495C>G c.1963C>G (p.Pro655Ala) c.1453C>G (p.Pro485Ala) c.1909C>G (n.1909C>G) c.3307C>G (p.Pro1103Ala) c.3289C>G (p.Pro1097Ala)
22	g.50721143C>T	CA515261276	SHANK3	c.2911C>T (p.Pro971Ser) n.3495C>T c.1963C>T (p.Pro655Ser) c.1453C>T (p.Pro485Ser) c.1909C>T (n.1909C>T) c.3307C>T (p.Pro1103Ser) c.3289C>T (p.Pro1097Ser)	gnomAD v4
22	g.50721144C>A	CA515261277	SHANK3	c.2912C>A (p.Pro971His) n.3496C>A c.1964C>A (p.Pro655His) c.1454C>A (p.Pro485His) c.1910C>A (n.1910C>A) c.3308C>A (p.Pro1103His) c.3290C>A (p.Pro1097His)
22	g.50721144C=	CA2411008057	SHANK3	c.2912C= (p.Pro971=) n.3496C= c.1964C= (p.Pro655=) c.1454C= (p.Pro485=) c.1910C= (n.1910C=) c.3308C= (p.Pro1103=) c.3290C= (p.Pro1097=)
22	g.50721144C>G	CA515261278	SHANK3	c.2912C>G (p.Pro971Arg) n.3496C>G c.1964C>G (p.Pro655Arg) c.1454C>G (p.Pro485Arg) c.1910C>G (n.1910C>G) c.3308C>G (p.Pro1103Arg) c.3290C>G (p.Pro1097Arg)	gnomAD v4
22	g.50721144C>T	CA515261279	SHANK3	c.2912C>T (p.Pro971Leu) n.3496C>T c.1964C>T (p.Pro655Leu) c.1454C>T (p.Pro485Leu) c.1910C>T (n.1910C>T) c.3308C>T (p.Pro1103Leu) c.3290C>T (p.Pro1097Leu)	dbSNP gnomAD v2 COSMIC COSMIC
22	g.50721145C>A	CA515261280	SHANK3	c.2913C>A (p.Pro971=) n.3497C>A c.1965C>A (p.Pro655=) c.1455C>A (p.Pro485=) c.1911C>A (n.1911C>A) c.3309C>A (p.Pro1103=) c.3291C>A (p.Pro1097=)	gnomAD v4
22	g.50721145C=	CA2411008058	SHANK3	c.2913C= (p.Pro971=) n.3497C= c.1965C= (p.Pro655=) c.1455C= (p.Pro485=) c.1911C= (n.1911C=) c.3309C= (p.Pro1103=) c.3291C= (p.Pro1097=)
22	g.50721145C>G	CA515261281	SHANK3	c.2913C>G (p.Pro971=) n.3497C>G c.1965C>G (p.Pro655=) c.1455C>G (p.Pro485=) c.1911C>G (n.1911C>G) c.3309C>G (p.Pro1103=) c.3291C>G (p.Pro1097=)
22	g.50721145C>T	CA515261282	SHANK3	c.2913C>T (p.Pro971=) n.3497C>T c.1965C>T (p.Pro655=) c.1455C>T (p.Pro485=) c.1911C>T (n.1911C>T) c.3309C>T (p.Pro1103=) c.3291C>T (p.Pro1097=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721146A>C	CA515261284	SHANK3	c.2914A>C (p.Ser972Arg) n.3498A>C c.1966A>C (p.Ser656Arg) c.1456A>C (p.Ser486Arg) c.1912A>C (n.1912A>C) c.3310A>C (p.Ser1104Arg) c.3292A>C (p.Ser1098Arg)	gnomAD v4
22	g.50721146A>G	CA515261285	SHANK3	c.2914A>G (p.Ser972Gly) n.3498A>G c.1966A>G (p.Ser656Gly) c.1456A>G (p.Ser486Gly) c.1912A>G (n.1912A>G) c.3310A>G (p.Ser1104Gly) c.3292A>G (p.Ser1098Gly)	gnomAD v4
22	g.50721146A>T	CA515261283	SHANK3	c.2914A>T (p.Ser972Cys) n.3498A>T c.1966A>T (p.Ser656Cys) c.1456A>T (p.Ser486Cys) c.1912A>T (n.1912A>T) c.3310A>T (p.Ser1104Cys) c.3292A>T (p.Ser1098Cys)

Number of alleles fetched