Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50720767_50720787delinsGGCAG	CA2580099958	SHANK3	c.2535_2555delinsGGCAG (p.Gly846AlafsTer?) n.3119_3139delinsGGCAG c.1587_1607delinsGGCAG (p.Gly530AlafsTer?) c.1077_1097delinsGGCAG (p.Gly360AlafsTer?) c.1533_1553delinsGGCAG (n.1533_1553delinsGGCAG) c.2931_2951delinsGGCAG (p.Gly978AlafsTer?) c.2913_2933delinsGGCAG (p.Gly972AlafsTer?)	ClinVar dbSNP
22	g.50720782_50720815del	CA2819316027	SHANK3	c.2550_2583del (p.Glu851ValfsTer?) n.3134_3167del c.1602_1635del (p.Glu535ValfsTer?) c.1092_1125del (p.Glu365ValfsTer?) c.1548_1581del (n.1548_1581del) c.2946_2979del (p.Glu983ValfsTer?) c.2928_2961del (p.Glu977ValfsTer?)
22	g.50720784_50720804dup	CA2657583405	SHANK3	c.2552_2572dup (p.Arg857_Gly858insGluProSerProThrHisArg) n.3136_3156dup c.1604_1624dup (p.Arg541_Gly542insGluProSerProThrHisArg) c.1094_1114dup (p.Arg371_Gly372insGluProSerProThrHisArg) c.1550_1570dup (n.1550_1570dup) c.2948_2968dup (p.Arg989_Gly990insGluProSerProThrHisArg) c.2930_2950dup (p.Arg983_Gly984insGluProSerProThrHisArg)	gnomAD v4
22	g.50720786C>A	CA515260285	SHANK3	c.2554C>A (p.Pro852Thr) n.3138C>A c.1606C>A (p.Pro536Thr) c.1096C>A (p.Pro366Thr) c.1552C>A (n.1552C>A) c.2950C>A (p.Pro984Thr) c.2932C>A (p.Pro978Thr)	dbSNP gnomAD v4
22	g.50720786C=	CA2411007825	SHANK3	c.2554C= (p.Pro852=) n.3138C= c.1606C= (p.Pro536=) c.1096C= (p.Pro366=) c.1552C= (n.1552C=) c.2950C= (p.Pro984=) c.2932C= (p.Pro978=)
22	g.50720786C>G	CA515260286	SHANK3	c.2554C>G (p.Pro852Ala) n.3138C>G c.1606C>G (p.Pro536Ala) c.1096C>G (p.Pro366Ala) c.1552C>G (n.1552C>G) c.2950C>G (p.Pro984Ala) c.2932C>G (p.Pro978Ala)	gnomAD v4
22	g.50720786C>T	CA515260287	SHANK3	c.2554C>T (p.Pro852Ser) n.3138C>T c.1606C>T (p.Pro536Ser) c.1096C>T (p.Pro366Ser) c.1552C>T (n.1552C>T) c.2950C>T (p.Pro984Ser) c.2932C>T (p.Pro978Ser)	gnomAD v4
22	g.50720788dup	CA2657583407	SHANK3	c.2556dup (p.Ser853LeufsTer?) n.3140dup c.1608dup (p.Ser537LeufsTer?) c.1098dup (p.Ser367LeufsTer?) c.1554dup (n.1554dup) c.2952dup (p.Ser985LeufsTer?) c.2934dup (p.Ser979LeufsTer?)	gnomAD v4
22	g.50720788del	CA2657583408	SHANK3	c.2556del (p.Ser853ProfsTer?) n.3140del c.1608del (p.Ser537ProfsTer?) c.1098del (p.Ser367ProfsTer?) c.1554del (n.1554del) c.2952del (p.Ser985ProfsTer?) c.2934del (p.Ser979ProfsTer?)	gnomAD v4
22	g.50720787C>A	CA515260288	SHANK3	c.2555C>A (p.Pro852His) n.3139C>A c.1607C>A (p.Pro536His) c.1097C>A (p.Pro366His) c.1553C>A (n.1553C>A) c.2951C>A (p.Pro984His) c.2933C>A (p.Pro978His)	gnomAD v4
22	g.50720787C>G	CA515260289	SHANK3	c.2555C>G (p.Pro852Arg) n.3139C>G c.1607C>G (p.Pro536Arg) c.1097C>G (p.Pro366Arg) c.1553C>G (n.1553C>G) c.2951C>G (p.Pro984Arg) c.2933C>G (p.Pro978Arg)
22	g.50720787C>T	CA515260290	SHANK3	c.2555C>T (p.Pro852Leu) n.3139C>T c.1607C>T (p.Pro536Leu) c.1097C>T (p.Pro366Leu) c.1553C>T (n.1553C>T) c.2951C>T (p.Pro984Leu) c.2933C>T (p.Pro978Leu)	gnomAD v4
22	g.50720788C>A	CA515260291	SHANK3	c.2556C>A (p.Pro852=) n.3140C>A c.1608C>A (p.Pro536=) c.1098C>A (p.Pro366=) c.1554C>A (n.1554C>A) c.2952C>A (p.Pro984=) c.2934C>A (p.Pro978=)	gnomAD v4
22	g.50720788C=	CA2411007826	SHANK3	c.2556C= (p.Pro852=) n.3140C= c.1608C= (p.Pro536=) c.1098C= (p.Pro366=) c.1554C= (n.1554C=) c.2952C= (p.Pro984=) c.2934C= (p.Pro978=)
22	g.50720788C>G	CA515260292	SHANK3	c.2556C>G (p.Pro852=) n.3140C>G c.1608C>G (p.Pro536=) c.1098C>G (p.Pro366=) c.1554C>G (n.1554C>G) c.2952C>G (p.Pro984=) c.2934C>G (p.Pro978=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720788C>T	CA325578299	SHANK3	c.2556C>T (p.Pro852=) n.3140C>T c.1608C>T (p.Pro536=) c.1098C>T (p.Pro366=) c.1554C>T (n.1554C>T) c.2952C>T (p.Pro984=) c.2934C>T (p.Pro978=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720795_50720796insGCTCTCCCCGA	CA2580099961	SHANK3	c.2563_2564insGCTCTCCCCGA (p.Thr855SerfsTer?) n.3147_3148insGCTCTCCCCGA c.1615_1616insGCTCTCCCCGA (p.Thr539SerfsTer?) c.1105_1106insGCTCTCCCCGA (p.Thr369SerfsTer?) c.1561_1562insGCTCTCCCCGA (n.1561_1562insGCTCTCCCCGA) c.2959_2960insGCTCTCCCCGA (p.Thr987SerfsTer?) c.2941_2942insGCTCTCCCCGA (p.Thr981SerfsTer?)	ClinVar
22	g.50720789del	CA2657583409	SHANK3	c.2557del (p.Ser853ProfsTer?) n.3141del c.1609del (p.Ser537ProfsTer?) c.1099del (p.Ser367ProfsTer?) c.1555del (n.1555del) c.2953del (p.Ser985ProfsTer?) c.2935del (p.Ser979ProfsTer?)	gnomAD v4
22	g.50720789T>A	CA515260295	SHANK3	c.2557T>A (p.Ser853Thr) n.3141T>A c.1609T>A (p.Ser537Thr) c.1099T>A (p.Ser367Thr) c.1555T>A (n.1555T>A) c.2953T>A (p.Ser985Thr) c.2935T>A (p.Ser979Thr)
22	g.50720789T>C	CA515260294	SHANK3	c.2557T>C (p.Ser853Pro) n.3141T>C c.1609T>C (p.Ser537Pro) c.1099T>C (p.Ser367Pro) c.1555T>C (n.1555T>C) c.2953T>C (p.Ser985Pro) c.2935T>C (p.Ser979Pro)	gnomAD v4
22	g.50720789T>G	CA515260293	SHANK3	c.2557T>G (p.Ser853Ala) n.3141T>G c.1609T>G (p.Ser537Ala) c.1099T>G (p.Ser367Ala) c.1555T>G (n.1555T>G) c.2953T>G (p.Ser985Ala) c.2935T>G (p.Ser979Ala)
22	g.50720789_50720790delinsTC	CA2411007827	SHANK3	c.2557_2558delinsTC (p.Ser853=) n.3141_3142delinsTC c.1609_1610delinsTC (p.Ser537=) c.1099_1100delinsTC (p.Ser367=) c.1555_1556delinsTC (n.1555_1556delinsTC) c.2953_2954delinsTC (p.Ser985=) c.2935_2936delinsTC (p.Ser979=)
22	g.50720790C>A	CA515260296	SHANK3	c.2558C>A (p.Ser853Tyr) n.3142C>A c.1610C>A (p.Ser537Tyr) c.1100C>A (p.Ser367Tyr) c.1556C>A (n.1556C>A) c.2954C>A (p.Ser985Tyr) c.2936C>A (p.Ser979Tyr)	gnomAD v4
22	g.50720790C>G	CA515260297	SHANK3	c.2558C>G (p.Ser853Cys) n.3142C>G c.1610C>G (p.Ser537Cys) c.1100C>G (p.Ser367Cys) c.1556C>G (n.1556C>G) c.2954C>G (p.Ser985Cys) c.2936C>G (p.Ser979Cys)	gnomAD v4
22	g.50720790C>T	CA515260298	SHANK3	c.2558C>T (p.Ser853Phe) n.3142C>T c.1610C>T (p.Ser537Phe) c.1100C>T (p.Ser367Phe) c.1556C>T (n.1556C>T) c.2954C>T (p.Ser985Phe) c.2936C>T (p.Ser979Phe)	gnomAD v4
22	g.50720793del	CA640358969	SHANK3	c.2561del (p.Pro854ArgfsTer?) n.3145del c.1613del (p.Pro538ArgfsTer?) c.1103del (p.Pro368ArgfsTer?) c.1559del (n.1559del) c.2957del (p.Pro986ArgfsTer?) c.2939del (p.Pro980ArgfsTer?)	dbSNP gnomAD v2 gnomAD v4
22	g.50720792_50720793del	CA2819316045	SHANK3	c.2560_2561del (p.Pro854AspfsTer?) n.3144_3145del c.1612_1613del (p.Pro538AspfsTer?) c.1102_1103del (p.Pro368AspfsTer?) c.1558_1559del (n.1558_1559del) c.2956_2957del (p.Pro986AspfsTer?) c.2938_2939del (p.Pro980AspfsTer?)
22	g.50720791C>A	CA515260299	SHANK3	c.2559C>A (p.Ser853=) n.3143C>A c.1611C>A (p.Ser537=) c.1101C>A (p.Ser367=) c.1557C>A (n.1557C>A) c.2955C>A (p.Ser985=) c.2937C>A (p.Ser979=)	gnomAD v4
22	g.50720791C=	CA2411007828	SHANK3	c.2559C= (p.Ser853=) n.3143C= c.1611C= (p.Ser537=) c.1101C= (p.Ser367=) c.1557C= (n.1557C=) c.2955C= (p.Ser985=) c.2937C= (p.Ser979=)
22	g.50720791C>G	CA515260300	SHANK3	c.2559C>G (p.Ser853=) n.3143C>G c.1611C>G (p.Ser537=) c.1101C>G (p.Ser367=) c.1557C>G (n.1557C>G) c.2955C>G (p.Ser985=) c.2937C>G (p.Ser979=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720791C>T	CA515260301	SHANK3	c.2559C>T (p.Ser853=) n.3143C>T c.1611C>T (p.Ser537=) c.1101C>T (p.Ser367=) c.1557C>T (n.1557C>T) c.2955C>T (p.Ser985=) c.2937C>T (p.Ser979=)	gnomAD v4
22	g.50720792C>A	CA515260302	SHANK3	c.2560C>A (p.Pro854Thr) n.3144C>A c.1612C>A (p.Pro538Thr) c.1102C>A (p.Pro368Thr) c.1558C>A (n.1558C>A) c.2956C>A (p.Pro986Thr) c.2938C>A (p.Pro980Thr)	gnomAD v4
22	g.50720792C>G	CA515260303	SHANK3	c.2560C>G (p.Pro854Ala) n.3144C>G c.1612C>G (p.Pro538Ala) c.1102C>G (p.Pro368Ala) c.1558C>G (n.1558C>G) c.2956C>G (p.Pro986Ala) c.2938C>G (p.Pro980Ala)	gnomAD v4
22	g.50720792C>T	CA515260304	SHANK3	c.2560C>T (p.Pro854Ser) n.3144C>T c.1612C>T (p.Pro538Ser) c.1102C>T (p.Pro368Ser) c.1558C>T (n.1558C>T) c.2956C>T (p.Pro986Ser) c.2938C>T (p.Pro980Ser)	gnomAD v4
22	g.50720793C>A	CA515260305	SHANK3	c.2561C>A (p.Pro854Gln) n.3145C>A c.1613C>A (p.Pro538Gln) c.1103C>A (p.Pro368Gln) c.1559C>A (n.1559C>A) c.2957C>A (p.Pro986Gln) c.2939C>A (p.Pro980Gln)	gnomAD v4
22	g.50720793C>G	CA515260306	SHANK3	c.2561C>G (p.Pro854Arg) n.3145C>G c.1613C>G (p.Pro538Arg) c.1103C>G (p.Pro368Arg) c.1559C>G (n.1559C>G) c.2957C>G (p.Pro986Arg) c.2939C>G (p.Pro980Arg)	gnomAD v4
22	g.50720793C>T	CA515260307	SHANK3	c.2561C>T (p.Pro854Leu) n.3145C>T c.1613C>T (p.Pro538Leu) c.1103C>T (p.Pro368Leu) c.1559C>T (n.1559C>T) c.2957C>T (p.Pro986Leu) c.2939C>T (p.Pro980Leu)	gnomAD v4
22	g.50720794G>A	CA515260311	SHANK3	c.2562G>A (p.Pro854=) n.3146G>A c.1614G>A (p.Pro538=) c.1104G>A (p.Pro368=) c.1560G>A (n.1560G>A) c.2958G>A (p.Pro986=) c.2940G>A (p.Pro980=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720794G>C	CA515260310	SHANK3	c.2562G>C (p.Pro854=) n.3146G>C c.1614G>C (p.Pro538=) c.1104G>C (p.Pro368=) c.1560G>C (n.1560G>C) c.2958G>C (p.Pro986=) c.2940G>C (p.Pro980=)
22	g.50720794G=	CA2411007829	SHANK3	c.2562G= (p.Pro854=) n.3146G= c.1614G= (p.Pro538=) c.1104G= (p.Pro368=) c.1560G= (n.1560G=) c.2958G= (p.Pro986=) c.2940G= (p.Pro980=)
22	g.50720794G>T	CA515260309	SHANK3	c.2562G>T (p.Pro854=) n.3146G>T c.1614G>T (p.Pro538=) c.1104G>T (p.Pro368=) c.1560G>T (n.1560G>T) c.2958G>T (p.Pro986=) c.2940G>T (p.Pro980=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720795A=	CA2411007830	SHANK3	c.2563A= (p.Thr855=) n.3147A= c.1615A= (p.Thr539=) c.1105A= (p.Thr369=) c.1561A= (n.1561A=) c.2959A= (p.Thr987=) c.2941A= (p.Thr981=)
22	g.50720795A>C	CA515260312	SHANK3	c.2563A>C (p.Thr855Pro) n.3147A>C c.1615A>C (p.Thr539Pro) c.1105A>C (p.Thr369Pro) c.1561A>C (n.1561A>C) c.2959A>C (p.Thr987Pro) c.2941A>C (p.Thr981Pro)	dbSNP gnomAD v4
22	g.50720795A>G	CA515260314	SHANK3	c.2563A>G (p.Thr855Ala) n.3147A>G c.1615A>G (p.Thr539Ala) c.1105A>G (p.Thr369Ala) c.1561A>G (n.1561A>G) c.2959A>G (p.Thr987Ala) c.2941A>G (p.Thr981Ala)	dbSNP gnomAD v4
22	g.50720795A>T	CA515260313	SHANK3	c.2563A>T (p.Thr855Ser) n.3147A>T c.1615A>T (p.Thr539Ser) c.1105A>T (p.Thr369Ser) c.1561A>T (n.1561A>T) c.2959A>T (p.Thr987Ser) c.2941A>T (p.Thr981Ser)	gnomAD v4
22	g.50720796C>A	CA515260315	SHANK3	c.2564C>A (p.Thr855Asn) n.3148C>A c.1616C>A (p.Thr539Asn) c.1106C>A (p.Thr369Asn) c.1562C>A (n.1562C>A) c.2960C>A (p.Thr987Asn) c.2942C>A (p.Thr981Asn)	gnomAD v4
22	g.50720796C=	CA2411007831	SHANK3	c.2564C= (p.Thr855=) n.3148C= c.1616C= (p.Thr539=) c.1106C= (p.Thr369=) c.1562C= (n.1562C=) c.2960C= (p.Thr987=) c.2942C= (p.Thr981=)
22	g.50720796C>G	CA515260317	SHANK3	c.2564C>G (p.Thr855Ser) n.3148C>G c.1616C>G (p.Thr539Ser) c.1106C>G (p.Thr369Ser) c.1562C>G (n.1562C>G) c.2960C>G (p.Thr987Ser) c.2942C>G (p.Thr981Ser)
22	g.50720796C>T	CA515260316	SHANK3	c.2564C>T (p.Thr855Ile) n.3148C>T c.1616C>T (p.Thr539Ile) c.1106C>T (p.Thr369Ile) c.1562C>T (n.1562C>T) c.2960C>T (p.Thr987Ile) c.2942C>T (p.Thr981Ile)	dbSNP gnomAD v4
22	g.50720798del	CA2657583410	SHANK3	c.2566del (p.His856ThrfsTer?) n.3150del c.1618del (p.His540ThrfsTer?) c.1108del (p.His370ThrfsTer?) c.1564del (n.1564del) c.2962del (p.His988ThrfsTer?) c.2944del (p.His982ThrfsTer?)	gnomAD v4
22	g.50720797_50720810del	CA2740092005	SHANK3	c.2565_2578del (p.His856ProfsTer?) n.3149_3162del c.1617_1630del (p.His540ProfsTer?) c.1107_1120del (p.His370ProfsTer?) c.1563_1576del (n.1563_1576del) c.2961_2974del (p.His988ProfsTer?) c.2943_2956del (p.His982ProfsTer?)	ClinVar
22	g.50720797C>A	CA515260318	SHANK3	c.2565C>A (p.Thr855=) n.3149C>A c.1617C>A (p.Thr539=) c.1107C>A (p.Thr369=) c.1563C>A (n.1563C>A) c.2961C>A (p.Thr987=) c.2943C>A (p.Thr981=)	gnomAD v4
22	g.50720797C=	CA2411007832	SHANK3	c.2565C= (p.Thr855=) n.3149C= c.1617C= (p.Thr539=) c.1107C= (p.Thr369=) c.1563C= (n.1563C=) c.2961C= (p.Thr987=) c.2943C= (p.Thr981=)
22	g.50720797C>G	CA515260320	SHANK3	c.2565C>G (p.Thr855=) n.3149C>G c.1617C>G (p.Thr539=) c.1107C>G (p.Thr369=) c.1563C>G (n.1563C>G) c.2961C>G (p.Thr987=) c.2943C>G (p.Thr981=)	gnomAD v4
22	g.50720797C>T	CA515260319	SHANK3	c.2565C>T (p.Thr855=) n.3149C>T c.1617C>T (p.Thr539=) c.1107C>T (p.Thr369=) c.1563C>T (n.1563C>T) c.2961C>T (p.Thr987=) c.2943C>T (p.Thr981=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720798C>A	CA515260321	SHANK3	c.2566C>A (p.His856Asn) n.3150C>A c.1618C>A (p.His540Asn) c.1108C>A (p.His370Asn) c.1564C>A (n.1564C>A) c.2962C>A (p.His988Asn) c.2944C>A (p.His982Asn)	gnomAD v4
22	g.50720798C>G	CA515260322	SHANK3	c.2566C>G (p.His856Asp) n.3150C>G c.1618C>G (p.His540Asp) c.1108C>G (p.His370Asp) c.1564C>G (n.1564C>G) c.2962C>G (p.His988Asp) c.2944C>G (p.His982Asp)	gnomAD v4
22	g.50720798C>T	CA515260323	SHANK3	c.2566C>T (p.His856Tyr) n.3150C>T c.1618C>T (p.His540Tyr) c.1108C>T (p.His370Tyr) c.1564C>T (n.1564C>T) c.2962C>T (p.His988Tyr) c.2944C>T (p.His982Tyr)	gnomAD v4
22	g.50720799A>C	CA515260324	SHANK3	c.2567A>C (p.His856Pro) n.3151A>C c.1619A>C (p.His540Pro) c.1109A>C (p.His370Pro) c.1565A>C (n.1565A>C) c.2963A>C (p.His988Pro) c.2945A>C (p.His982Pro)	ClinVar gnomAD v3 gnomAD v4
22	g.50720799A>G	CA515260325	SHANK3	c.2567A>G (p.His856Arg) n.3151A>G c.1619A>G (p.His540Arg) c.1109A>G (p.His370Arg) c.1565A>G (n.1565A>G) c.2963A>G (p.His988Arg) c.2945A>G (p.His982Arg)	gnomAD v4
22	g.50720799A>T	CA515260326	SHANK3	c.2567A>T (p.His856Leu) n.3151A>T c.1619A>T (p.His540Leu) c.1109A>T (p.His370Leu) c.1565A>T (n.1565A>T) c.2963A>T (p.His988Leu) c.2945A>T (p.His982Leu)
22	g.50720800C>A	CA515260329	SHANK3	c.2568C>A (p.His856Gln) n.3152C>A c.1620C>A (p.His540Gln) c.1110C>A (p.His370Gln) c.1566C>A (n.1566C>A) c.2964C>A (p.His988Gln) c.2946C>A (p.His982Gln)	gnomAD v4
22	g.50720800C>G	CA515260328	SHANK3	c.2568C>G (p.His856Gln) n.3152C>G c.1620C>G (p.His540Gln) c.1110C>G (p.His370Gln) c.1566C>G (n.1566C>G) c.2964C>G (p.His988Gln) c.2946C>G (p.His982Gln)	gnomAD v4
22	g.50720800C>T	CA515260327	SHANK3	c.2568C>T (p.His856=) n.3152C>T c.1620C>T (p.His540=) c.1110C>T (p.His370=) c.1566C>T (n.1566C>T) c.2964C>T (p.His988=) c.2946C>T (p.His982=)	gnomAD v4
22	g.50720801C>A	CA515260330	SHANK3	c.2569C>A (p.Arg857Ser) n.3153C>A c.1621C>A (p.Arg541Ser) c.1111C>A (p.Arg371Ser) c.1567C>A (n.1567C>A) c.2965C>A (p.Arg989Ser) c.2947C>A (p.Arg983Ser)	gnomAD v4
22	g.50720801C>G	CA515260331	SHANK3	c.2569C>G (p.Arg857Gly) n.3153C>G c.1621C>G (p.Arg541Gly) c.1111C>G (p.Arg371Gly) c.1567C>G (n.1567C>G) c.2965C>G (p.Arg989Gly) c.2947C>G (p.Arg983Gly)
22	g.50720801C>T	CA515260332	SHANK3	c.2569C>T (p.Arg857Cys) n.3153C>T c.1621C>T (p.Arg541Cys) c.1111C>T (p.Arg371Cys) c.1567C>T (n.1567C>T) c.2965C>T (p.Arg989Cys) c.2947C>T (p.Arg983Cys)	gnomAD v4
22	g.50720802del	CA2819316059	SHANK3	c.2570del (p.Arg857ProfsTer?) n.3154del c.1622del (p.Arg541ProfsTer?) c.1112del (p.Arg371ProfsTer?) c.1568del (n.1568del) c.2966del (p.Arg989ProfsTer?) c.2948del (p.Arg983ProfsTer?)
22	g.50720802G>A	CA515260333	SHANK3	c.2570G>A (p.Arg857His) n.3154G>A c.1622G>A (p.Arg541His) c.1112G>A (p.Arg371His) c.1568G>A (n.1568G>A) c.2966G>A (p.Arg989His) c.2948G>A (p.Arg983His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720802G>C	CA515260334	SHANK3	c.2570G>C (p.Arg857Pro) n.3154G>C c.1622G>C (p.Arg541Pro) c.1112G>C (p.Arg371Pro) c.1568G>C (n.1568G>C) c.2966G>C (p.Arg989Pro) c.2948G>C (p.Arg983Pro)
22	g.50720802G=	CA2411007833	SHANK3	c.2570G= (p.Arg857=) n.3154G= c.1622G= (p.Arg541=) c.1112G= (p.Arg371=) c.1568G= (n.1568G=) c.2966G= (p.Arg989=) c.2948G= (p.Arg983=)
22	g.50720802G>T	CA515260335	SHANK3	c.2570G>T (p.Arg857Leu) n.3154G>T c.1622G>T (p.Arg541Leu) c.1112G>T (p.Arg371Leu) c.1568G>T (n.1568G>T) c.2966G>T (p.Arg989Leu) c.2948G>T (p.Arg983Leu)	gnomAD v4
22	g.50720803del	CA2657583411	SHANK3	c.2571del (p.Gly858ValfsTer?) n.3155del c.1623del (p.Gly542ValfsTer?) c.1113del (p.Gly372ValfsTer?) c.1569del (n.1569del) c.2967del (p.Gly990ValfsTer?) c.2949del (p.Gly984ValfsTer?)	gnomAD v4
22	g.50720803C>A	CA515260336	SHANK3	c.2571C>A (p.Arg857=) n.3155C>A c.1623C>A (p.Arg541=) c.1113C>A (p.Arg371=) c.1569C>A (n.1569C>A) c.2967C>A (p.Arg989=) c.2949C>A (p.Arg983=)	ClinVar dbSNP gnomAD v4
22	g.50720803C=	CA2411007834	SHANK3	c.2571C= (p.Arg857=) n.3155C= c.1623C= (p.Arg541=) c.1113C= (p.Arg371=) c.1569C= (n.1569C=) c.2967C= (p.Arg989=) c.2949C= (p.Arg983=)
22	g.50720803C>G	CA515260338	SHANK3	c.2571C>G (p.Arg857=) n.3155C>G c.1623C>G (p.Arg541=) c.1113C>G (p.Arg371=) c.1569C>G (n.1569C>G) c.2967C>G (p.Arg989=) c.2949C>G (p.Arg983=)	gnomAD v4
22	g.50720803C>T	CA515260337	SHANK3	c.2571C>T (p.Arg857=) n.3155C>T c.1623C>T (p.Arg541=) c.1113C>T (p.Arg371=) c.1569C>T (n.1569C>T) c.2967C>T (p.Arg989=) c.2949C>T (p.Arg983=)	gnomAD v4
22	g.50720804G>A	CA325578304	SHANK3	c.2572G>A (p.Gly858Ser) n.3156G>A c.1624G>A (p.Gly542Ser) c.1114G>A (p.Gly372Ser) c.1570G>A (n.1570G>A) c.2968G>A (p.Gly990Ser) c.2950G>A (p.Gly984Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.50720804G>C	CA515260339	SHANK3	c.2572G>C (p.Gly858Arg) n.3156G>C c.1624G>C (p.Gly542Arg) c.1114G>C (p.Gly372Arg) c.1570G>C (n.1570G>C) c.2968G>C (p.Gly990Arg) c.2950G>C (p.Gly984Arg)	gnomAD v4
22	g.50720804G=	CA2411007835	SHANK3	c.2572G= (p.Gly858=) n.3156G= c.1624G= (p.Gly542=) c.1114G= (p.Gly372=) c.1570G= (n.1570G=) c.2968G= (p.Gly990=) c.2950G= (p.Gly984=)
22	g.50720804G>T	CA515260340	SHANK3	c.2572G>T (p.Gly858Cys) n.3156G>T c.1624G>T (p.Gly542Cys) c.1114G>T (p.Gly372Cys) c.1570G>T (n.1570G>T) c.2968G>T (p.Gly990Cys) c.2950G>T (p.Gly984Cys)	gnomAD v4
22	g.50720805del	CA2657583412	SHANK3	c.2573del (p.Gly858ValfsTer?) n.3157del c.1625del (p.Gly542ValfsTer?) c.1115del (p.Gly372ValfsTer?) c.1571del (n.1571del) c.2969del (p.Gly990ValfsTer?) c.2951del (p.Gly984ValfsTer?)	gnomAD v4
22	g.50720805G>A	CA515260341	SHANK3	c.2573G>A (p.Gly858Asp) n.3157G>A c.1625G>A (p.Gly542Asp) c.1115G>A (p.Gly372Asp) c.1571G>A (n.1571G>A) c.2969G>A (p.Gly990Asp) c.2951G>A (p.Gly984Asp)	gnomAD v4
22	g.50720805G>C	CA515260342	SHANK3	c.2573G>C (p.Gly858Ala) n.3157G>C c.1625G>C (p.Gly542Ala) c.1115G>C (p.Gly372Ala) c.1571G>C (n.1571G>C) c.2969G>C (p.Gly990Ala) c.2951G>C (p.Gly984Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.50720805G=	CA2411007836	SHANK3	c.2573G= (p.Gly858=) n.3157G= c.1625G= (p.Gly542=) c.1115G= (p.Gly372=) c.1571G= (n.1571G=) c.2969G= (p.Gly990=) c.2951G= (p.Gly984=)
22	g.50720805G>T	CA515260343	SHANK3	c.2573G>T (p.Gly858Val) n.3157G>T c.1625G>T (p.Gly542Val) c.1115G>T (p.Gly372Val) c.1571G>T (n.1571G>T) c.2969G>T (p.Gly990Val) c.2951G>T (p.Gly984Val)	gnomAD v4
22	g.50720805_50720808delinsGTCC	CA2411007837	SHANK3	c.2573_2576delinsGTCC (p.Gly858=) n.3157_3160delinsGTCC c.1625_1628delinsGTCC (p.Gly542=) c.1115_1118delinsGTCC (p.Gly372=) c.1571_1574delinsGTCC (n.1571_1574delinsGTCC) c.2969_2972delinsGTCC (p.Gly990=) c.2951_2954delinsGTCC (p.Gly984=)
22	g.50720806T>A	CA515260344	SHANK3	c.2574T>A (p.Gly858=) n.3158T>A c.1626T>A (p.Gly542=) c.1116T>A (p.Gly372=) c.1572T>A (n.1572T>A) c.2970T>A (p.Gly990=) c.2952T>A (p.Gly984=)	gnomAD v4
22	g.50720806T>C	CA515260345	SHANK3	c.2574T>C (p.Gly858=) n.3158T>C c.1626T>C (p.Gly542=) c.1116T>C (p.Gly372=) c.1572T>C (n.1572T>C) c.2970T>C (p.Gly990=) c.2952T>C (p.Gly984=)	gnomAD v4
22	g.50720806T>G	CA515260346	SHANK3	c.2574T>G (p.Gly858=) n.3158T>G c.1626T>G (p.Gly542=) c.1116T>G (p.Gly372=) c.1572T>G (n.1572T>G) c.2970T>G (p.Gly990=) c.2952T>G (p.Gly984=)
22	g.50720806_50720808del	CA640358970	SHANK3	c.2574_2576del (p.Pro859del) n.3158_3160del c.1626_1628del (p.Pro543del) c.1116_1118del (p.Pro373del) c.1572_1574del (n.1572_1574del) c.2970_2972del (p.Pro991del) c.2952_2954del (p.Pro985del)	dbSNP gnomAD v2
22	g.50720807C>A	CA515260347	SHANK3	c.2575C>A (p.Pro859Thr) n.3159C>A c.1627C>A (p.Pro543Thr) c.1117C>A (p.Pro373Thr) c.1573C>A (n.1573C>A) c.2971C>A (p.Pro991Thr) c.2953C>A (p.Pro985Thr)	gnomAD v4
22	g.50720807C=	CA2411007838	SHANK3	c.2575C= (p.Pro859=) n.3159C= c.1627C= (p.Pro543=) c.1117C= (p.Pro373=) c.1573C= (n.1573C=) c.2971C= (p.Pro991=) c.2953C= (p.Pro985=)
22	g.50720807C>G	CA515260348	SHANK3	c.2575C>G (p.Pro859Ala) n.3159C>G c.1627C>G (p.Pro543Ala) c.1117C>G (p.Pro373Ala) c.1573C>G (n.1573C>G) c.2971C>G (p.Pro991Ala) c.2953C>G (p.Pro985Ala)	gnomAD v4
22	g.50720807C>T	CA515260349	SHANK3	c.2575C>T (p.Pro859Ser) n.3159C>T c.1627C>T (p.Pro543Ser) c.1117C>T (p.Pro373Ser) c.1573C>T (n.1573C>T) c.2971C>T (p.Pro991Ser) c.2953C>T (p.Pro985Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720808C>A	CA515260350	SHANK3	c.2576C>A (p.Pro859Gln) n.3160C>A c.1628C>A (p.Pro543Gln) c.1118C>A (p.Pro373Gln) c.1574C>A (n.1574C>A) c.2972C>A (p.Pro991Gln) c.2954C>A (p.Pro985Gln)	gnomAD v4
22	g.50720808C=	CA2411007839	SHANK3	c.2576C= (p.Pro859=) n.3160C= c.1628C= (p.Pro543=) c.1118C= (p.Pro373=) c.1574C= (n.1574C=) c.2972C= (p.Pro991=) c.2954C= (p.Pro985=)
22	g.50720808C>G	CA515260352	SHANK3	c.2576C>G (p.Pro859Arg) n.3160C>G c.1628C>G (p.Pro543Arg) c.1118C>G (p.Pro373Arg) c.1574C>G (n.1574C>G) c.2972C>G (p.Pro991Arg) c.2954C>G (p.Pro985Arg)	gnomAD v4
22	g.50720808C>T	CA515260351	SHANK3	c.2576C>T (p.Pro859Leu) n.3160C>T c.1628C>T (p.Pro543Leu) c.1118C>T (p.Pro373Leu) c.1574C>T (n.1574C>T) c.2972C>T (p.Pro991Leu) c.2954C>T (p.Pro985Leu)	dbSNP gnomAD v4
22	g.50720809G>A	CA515260353	SHANK3	c.2577G>A (p.Pro859=) n.3161G>A c.1629G>A (p.Pro543=) c.1119G>A (p.Pro373=) c.1575G>A (n.1575G>A) c.2973G>A (p.Pro991=) c.2955G>A (p.Pro985=)	dbSNP gnomAD v4
22	g.50720809G>C	CA515260354	SHANK3	c.2577G>C (p.Pro859=) n.3161G>C c.1629G>C (p.Pro543=) c.1119G>C (p.Pro373=) c.1575G>C (n.1575G>C) c.2973G>C (p.Pro991=) c.2955G>C (p.Pro985=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720809G=	CA2411007840	SHANK3	c.2577G= (p.Pro859=) n.3161G= c.1629G= (p.Pro543=) c.1119G= (p.Pro373=) c.1575G= (n.1575G=) c.2973G= (p.Pro991=) c.2955G= (p.Pro985=)
22	g.50720809G>T	CA515260355	SHANK3	c.2577G>T (p.Pro859=) n.3161G>T c.1629G>T (p.Pro543=) c.1119G>T (p.Pro373=) c.1575G>T (n.1575G>T) c.2973G>T (p.Pro991=) c.2955G>T (p.Pro985=)	gnomAD v4
22	g.50720810C>A	CA515260356	SHANK3	c.2578C>A (p.Arg860Ser) n.3162C>A c.1630C>A (p.Arg544Ser) c.1120C>A (p.Arg374Ser) c.1576C>A (n.1576C>A) c.2974C>A (p.Arg992Ser) c.2956C>A (p.Arg986Ser)	ClinVar dbSNP gnomAD v4
22	g.50720810C=	CA2411007841	SHANK3	c.2578C= (p.Arg860=) n.3162C= c.1630C= (p.Arg544=) c.1120C= (p.Arg374=) c.1576C= (n.1576C=) c.2974C= (p.Arg992=) c.2956C= (p.Arg986=)
22	g.50720810C>G	CA515260357	SHANK3	c.2578C>G (p.Arg860Gly) n.3162C>G c.1630C>G (p.Arg544Gly) c.1120C>G (p.Arg374Gly) c.1576C>G (n.1576C>G) c.2974C>G (p.Arg992Gly) c.2956C>G (p.Arg986Gly)
22	g.50720810C>T	CA515260358	SHANK3	c.2578C>T (p.Arg860Cys) n.3162C>T c.1630C>T (p.Arg544Cys) c.1120C>T (p.Arg374Cys) c.1576C>T (n.1576C>T) c.2974C>T (p.Arg992Cys) c.2956C>T (p.Arg986Cys)	dbSNP gnomAD v3 gnomAD v4
22	g.50720811G>A	CA515260359	SHANK3	c.2579G>A (p.Arg860His) n.3163G>A c.1631G>A (p.Arg544His) c.1121G>A (p.Arg374His) c.1577G>A (n.1577G>A) c.2975G>A (p.Arg992His) c.2957G>A (p.Arg986His)	gnomAD v4
22	g.50720811G>C	CA515260360	SHANK3	c.2579G>C (p.Arg860Pro) n.3163G>C c.1631G>C (p.Arg544Pro) c.1121G>C (p.Arg374Pro) c.1577G>C (n.1577G>C) c.2975G>C (p.Arg992Pro) c.2957G>C (p.Arg986Pro)
22	g.50720811G>T	CA515260361	SHANK3	c.2579G>T (p.Arg860Leu) n.3163G>T c.1631G>T (p.Arg544Leu) c.1121G>T (p.Arg374Leu) c.1577G>T (n.1577G>T) c.2975G>T (p.Arg992Leu) c.2957G>T (p.Arg986Leu)	gnomAD v4
22	g.50720812C>A	CA515260362	SHANK3	c.2580C>A (p.Arg860=) n.3164C>A c.1632C>A (p.Arg544=) c.1122C>A (p.Arg374=) c.1578C>A (n.1578C>A) c.2976C>A (p.Arg992=) c.2958C>A (p.Arg986=)	gnomAD v4
22	g.50720812C>G	CA515260363	SHANK3	c.2580C>G (p.Arg860=) n.3164C>G c.1632C>G (p.Arg544=) c.1122C>G (p.Arg374=) c.1578C>G (n.1578C>G) c.2976C>G (p.Arg992=) c.2958C>G (p.Arg986=)
22	g.50720812C>T	CA515260364	SHANK3	c.2580C>T (p.Arg860=) n.3164C>T c.1632C>T (p.Arg544=) c.1122C>T (p.Arg374=) c.1578C>T (n.1578C>T) c.2976C>T (p.Arg992=) c.2958C>T (p.Arg986=)	gnomAD v4
22	g.50720814del	CA2819316074	SHANK3	c.2582del (p.Pro861ArgfsTer?) n.3166del c.1634del (p.Pro545ArgfsTer?) c.1124del (p.Pro375ArgfsTer?) c.1580del (n.1580del) c.2978del (p.Pro993ArgfsTer?) c.2960del (p.Pro987ArgfsTer?)
22	g.50720813C>A	CA515260367	SHANK3	c.2581C>A (p.Pro861Thr) n.3165C>A c.1633C>A (p.Pro545Thr) c.1123C>A (p.Pro375Thr) c.1579C>A (n.1579C>A) c.2977C>A (p.Pro993Thr) c.2959C>A (p.Pro987Thr)	gnomAD v4
22	g.50720813C=	CA2411007842	SHANK3	c.2581C= (p.Pro861=) n.3165C= c.1633C= (p.Pro545=) c.1123C= (p.Pro375=) c.1579C= (n.1579C=) c.2977C= (p.Pro993=) c.2959C= (p.Pro987=)
22	g.50720813C>G	CA515260366	SHANK3	c.2581C>G (p.Pro861Ala) n.3165C>G c.1633C>G (p.Pro545Ala) c.1123C>G (p.Pro375Ala) c.1579C>G (n.1579C>G) c.2977C>G (p.Pro993Ala) c.2959C>G (p.Pro987Ala)
22	g.50720813C>T	CA515260365	SHANK3	c.2581C>T (p.Pro861Ser) n.3165C>T c.1633C>T (p.Pro545Ser) c.1123C>T (p.Pro375Ser) c.1579C>T (n.1579C>T) c.2977C>T (p.Pro993Ser) c.2959C>T (p.Pro987Ser)	dbSNP gnomAD v4
22	g.50720814C>A	CA515260368	SHANK3	c.2582C>A (p.Pro861Gln) n.3166C>A c.1634C>A (p.Pro545Gln) c.1124C>A (p.Pro375Gln) c.1580C>A (n.1580C>A) c.2978C>A (p.Pro993Gln) c.2960C>A (p.Pro987Gln)	gnomAD v4
22	g.50720814C=	CA2411007843	SHANK3	c.2582C= (p.Pro861=) n.3166C= c.1634C= (p.Pro545=) c.1124C= (p.Pro375=) c.1580C= (n.1580C=) c.2978C= (p.Pro993=) c.2960C= (p.Pro987=)
22	g.50720814C>G	CA515260369	SHANK3	c.2582C>G (p.Pro861Arg) n.3166C>G c.1634C>G (p.Pro545Arg) c.1124C>G (p.Pro375Arg) c.1580C>G (n.1580C>G) c.2978C>G (p.Pro993Arg) c.2960C>G (p.Pro987Arg)	dbSNP gnomAD v3 gnomAD v4
22	g.50720814C>T	CA325578308	SHANK3	c.2582C>T (p.Pro861Leu) n.3166C>T c.1634C>T (p.Pro545Leu) c.1124C>T (p.Pro375Leu) c.1580C>T (n.1580C>T) c.2978C>T (p.Pro993Leu) c.2960C>T (p.Pro987Leu)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50720814_50720815delinsCG	CA2411007844	SHANK3	c.2582_2583delinsCG (p.Pro861=) n.3166_3167delinsCG c.1634_1635delinsCG (p.Pro545=) c.1124_1125delinsCG (p.Pro375=) c.1580_1581delinsCG (n.1580_1581delinsCG) c.2978_2979delinsCG (p.Pro993=) c.2960_2961delinsCG (p.Pro987=)
22	g.50720815G>A	CA515260370	SHANK3	c.2583G>A (p.Pro861=) n.3167G>A c.1635G>A (p.Pro545=) c.1125G>A (p.Pro375=) c.1581G>A (n.1581G>A) c.2979G>A (p.Pro993=) c.2961G>A (p.Pro987=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720815G>C	CA515260371	SHANK3	c.2583G>C (p.Pro861=) n.3167G>C c.1635G>C (p.Pro545=) c.1125G>C (p.Pro375=) c.1581G>C (n.1581G>C) c.2979G>C (p.Pro993=) c.2961G>C (p.Pro987=)	dbSNP
22	g.50720815G=	CA2411007845	SHANK3	c.2583G= (p.Pro861=) n.3167G= c.1635G= (p.Pro545=) c.1125G= (p.Pro375=) c.1581G= (n.1581G=) c.2979G= (p.Pro993=) c.2961G= (p.Pro987=)
22	g.50720815G>T	CA515260372	SHANK3	c.2583G>T (p.Pro861=) n.3167G>T c.1635G>T (p.Pro545=) c.1125G>T (p.Pro375=) c.1581G>T (n.1581G>T) c.2979G>T (p.Pro993=) c.2961G>T (p.Pro987=)	gnomAD v4
22	g.50720817del	CA1139667201	SHANK3	c.2585del (p.Gly862ValfsTer?) n.3169del c.1637del (p.Gly546ValfsTer?) c.1127del (p.Gly376ValfsTer?) c.1583del (n.1583del) c.2981del (p.Gly994ValfsTer?) c.2963del (p.Gly988ValfsTer?)	ClinVar dbSNP gnomAD v4
22	g.50720816G>A	CA515260373	SHANK3	c.2584G>A (p.Gly862Ser) n.3168G>A c.1636G>A (p.Gly546Ser) c.1126G>A (p.Gly376Ser) c.1582G>A (n.1582G>A) c.2980G>A (p.Gly994Ser) c.2962G>A (p.Gly988Ser)	gnomAD v4
22	g.50720816G>C	CA515260374	SHANK3	c.2584G>C (p.Gly862Arg) n.3168G>C c.1636G>C (p.Gly546Arg) c.1126G>C (p.Gly376Arg) c.1582G>C (n.1582G>C) c.2980G>C (p.Gly994Arg) c.2962G>C (p.Gly988Arg)	gnomAD v4
22	g.50720816G>T	CA515260375	SHANK3	c.2584G>T (p.Gly862Cys) n.3168G>T c.1636G>T (p.Gly546Cys) c.1126G>T (p.Gly376Cys) c.1582G>T (n.1582G>T) c.2980G>T (p.Gly994Cys) c.2962G>T (p.Gly988Cys)	gnomAD v4
22	g.50720817G>A	CA515260376	SHANK3	c.2585G>A (p.Gly862Asp) n.3169G>A c.1637G>A (p.Gly546Asp) c.1127G>A (p.Gly376Asp) c.1583G>A (n.1583G>A) c.2981G>A (p.Gly994Asp) c.2963G>A (p.Gly988Asp)	gnomAD v4
22	g.50720817G>C	CA515260377	SHANK3	c.2585G>C (p.Gly862Ala) n.3169G>C c.1637G>C (p.Gly546Ala) c.1127G>C (p.Gly376Ala) c.1583G>C (n.1583G>C) c.2981G>C (p.Gly994Ala) c.2963G>C (p.Gly988Ala)	gnomAD v4
22	g.50720817G>T	CA515260378	SHANK3	c.2585G>T (p.Gly862Val) n.3169G>T c.1637G>T (p.Gly546Val) c.1127G>T (p.Gly376Val) c.1583G>T (n.1583G>T) c.2981G>T (p.Gly994Val) c.2963G>T (p.Gly988Val)	gnomAD v4
22	g.50720818T>A	CA515260379	SHANK3	c.2586T>A (p.Gly862=) n.3170T>A c.1638T>A (p.Gly546=) c.1128T>A (p.Gly376=) c.1584T>A (n.1584T>A) c.2982T>A (p.Gly994=) c.2964T>A (p.Gly988=)
22	g.50720818T>C	CA515260381	SHANK3	c.2586T>C (p.Gly862=) n.3170T>C c.1638T>C (p.Gly546=) c.1128T>C (p.Gly376=) c.1584T>C (n.1584T>C) c.2982T>C (p.Gly994=) c.2964T>C (p.Gly988=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720818T>G	CA515260380	SHANK3	c.2586T>G (p.Gly862=) n.3170T>G c.1638T>G (p.Gly546=) c.1128T>G (p.Gly376=) c.1584T>G (n.1584T>G) c.2982T>G (p.Gly994=) c.2964T>G (p.Gly988=)	dbSNP
22	g.50720818T=	CA2411007846	SHANK3	c.2586T= (p.Gly862=) n.3170T= c.1638T= (p.Gly546=) c.1128T= (p.Gly376=) c.1584T= (n.1584T=) c.2982T= (p.Gly994=) c.2964T= (p.Gly988=)
22	g.50720819G>A	CA515260382	SHANK3	c.2587G>A (p.Gly863Ser) n.3171G>A c.1639G>A (p.Gly547Ser) c.1129G>A (p.Gly377Ser) c.1585G>A (n.1585G>A) c.2983G>A (p.Gly995Ser) c.2965G>A (p.Gly989Ser)	gnomAD v4
22	g.50720819G>C	CA515260384	SHANK3	c.2587G>C (p.Gly863Arg) n.3171G>C c.1639G>C (p.Gly547Arg) c.1129G>C (p.Gly377Arg) c.1585G>C (n.1585G>C) c.2983G>C (p.Gly995Arg) c.2965G>C (p.Gly989Arg)	gnomAD v4
22	g.50720819G>T	CA515260383	SHANK3	c.2587G>T (p.Gly863Cys) n.3171G>T c.1639G>T (p.Gly547Cys) c.1129G>T (p.Gly377Cys) c.1585G>T (n.1585G>T) c.2983G>T (p.Gly995Cys) c.2965G>T (p.Gly989Cys)	gnomAD v4
22	g.50720820del	CA2657583413	SHANK3	c.2588del (p.Gly863AlafsTer?) n.3172del c.1640del (p.Gly547AlafsTer?) c.1130del (p.Gly377AlafsTer?) c.1586del (n.1586del) c.2984del (p.Gly995AlafsTer?) c.2966del (p.Gly989AlafsTer?)	gnomAD v4
22	g.50720820G>A	CA515260385	SHANK3	c.2588G>A (p.Gly863Asp) n.3172G>A c.1640G>A (p.Gly547Asp) c.1130G>A (p.Gly377Asp) c.1586G>A (n.1586G>A) c.2984G>A (p.Gly995Asp) c.2966G>A (p.Gly989Asp)	gnomAD v4
22	g.50720820G>C	CA515260386	SHANK3	c.2588G>C (p.Gly863Ala) n.3172G>C c.1640G>C (p.Gly547Ala) c.1130G>C (p.Gly377Ala) c.1586G>C (n.1586G>C) c.2984G>C (p.Gly995Ala) c.2966G>C (p.Gly989Ala)
22	g.50720820G=	CA2411007847	SHANK3	c.2588G= (p.Gly863=) n.3172G= c.1640G= (p.Gly547=) c.1130G= (p.Gly377=) c.1586G= (n.1586G=) c.2984G= (p.Gly995=) c.2966G= (p.Gly989=)
22	g.50720820G>T	CA325578326	SHANK3	c.2588G>T (p.Gly863Val) n.3172G>T c.1640G>T (p.Gly547Val) c.1130G>T (p.Gly377Val) c.1586G>T (n.1586G>T) c.2984G>T (p.Gly995Val) c.2966G>T (p.Gly989Val)	dbSNP gnomAD v4
22	g.50720821C>A	CA515260387	SHANK3	c.2589C>A (p.Gly863=) n.3173C>A c.1641C>A (p.Gly547=) c.1131C>A (p.Gly377=) c.1587C>A (n.1587C>A) c.2985C>A (p.Gly995=) c.2967C>A (p.Gly989=)	gnomAD v4
22	g.50720821C=	CA2411007848	SHANK3	c.2589C= (p.Gly863=) n.3173C= c.1641C= (p.Gly547=) c.1131C= (p.Gly377=) c.1587C= (n.1587C=) c.2985C= (p.Gly995=) c.2967C= (p.Gly989=)
22	g.50720821C>G	CA515260388	SHANK3	c.2589C>G (p.Gly863=) n.3173C>G c.1641C>G (p.Gly547=) c.1131C>G (p.Gly377=) c.1587C>G (n.1587C>G) c.2985C>G (p.Gly995=) c.2967C>G (p.Gly989=)	gnomAD v4
22	g.50720821C>T	CA515260389	SHANK3	c.2589C>T (p.Gly863=) n.3173C>T c.1641C>T (p.Gly547=) c.1131C>T (p.Gly377=) c.1587C>T (n.1587C>T) c.2985C>T (p.Gly995=) c.2967C>T (p.Gly989=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720822C>A	CA515260390	SHANK3	c.2590C>A (p.Leu864Ile) n.3174C>A c.1642C>A (p.Leu548Ile) c.1132C>A (p.Leu378Ile) c.1588C>A (n.1588C>A) c.2986C>A (p.Leu996Ile) c.2968C>A (p.Leu990Ile)	gnomAD v4
22	g.50720822C=	CA2411007849	SHANK3	c.2590C= (p.Leu864=) n.3174C= c.1642C= (p.Leu548=) c.1132C= (p.Leu378=) c.1588C= (n.1588C=) c.2986C= (p.Leu996=) c.2968C= (p.Leu990=)
22	g.50720822C>G	CA515260391	SHANK3	c.2590C>G (p.Leu864Val) n.3174C>G c.1642C>G (p.Leu548Val) c.1132C>G (p.Leu378Val) c.1588C>G (n.1588C>G) c.2986C>G (p.Leu996Val) c.2968C>G (p.Leu990Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720822C>T	CA515260392	SHANK3	c.2590C>T (p.Leu864Phe) n.3174C>T c.1642C>T (p.Leu548Phe) c.1132C>T (p.Leu378Phe) c.1588C>T (n.1588C>T) c.2986C>T (p.Leu996Phe) c.2968C>T (p.Leu990Phe)	dbSNP gnomAD v4
22	g.50720823T>A	CA515260393	SHANK3	c.2591T>A (p.Leu864His) n.3175T>A c.1643T>A (p.Leu548His) c.1133T>A (p.Leu378His) c.1589T>A (n.1589T>A) c.2987T>A (p.Leu996His) c.2969T>A (p.Leu990His)
22	g.50720823T>C	CA515260394	SHANK3	c.2591T>C (p.Leu864Pro) n.3175T>C c.1643T>C (p.Leu548Pro) c.1133T>C (p.Leu378Pro) c.1589T>C (n.1589T>C) c.2987T>C (p.Leu996Pro) c.2969T>C (p.Leu990Pro)	dbSNP gnomAD v4
22	g.50720823T>G	CA515260395	SHANK3	c.2591T>G (p.Leu864Arg) n.3175T>G c.1643T>G (p.Leu548Arg) c.1133T>G (p.Leu378Arg) c.1589T>G (n.1589T>G) c.2987T>G (p.Leu996Arg) c.2969T>G (p.Leu990Arg)
22	g.50720823T=	CA2411007850	SHANK3	c.2591T= (p.Leu864=) n.3175T= c.1643T= (p.Leu548=) c.1133T= (p.Leu378=) c.1589T= (n.1589T=) c.2987T= (p.Leu996=) c.2969T= (p.Leu990=)
22	g.50720824C>A	CA515260396	SHANK3	c.2592C>A (p.Leu864=) n.3176C>A c.1644C>A (p.Leu548=) c.1134C>A (p.Leu378=) c.1590C>A (n.1590C>A) c.2988C>A (p.Leu996=) c.2970C>A (p.Leu990=)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50720824C=	CA2411007851	SHANK3	c.2592C= (p.Leu864=) n.3176C= c.1644C= (p.Leu548=) c.1134C= (p.Leu378=) c.1590C= (n.1590C=) c.2988C= (p.Leu996=) c.2970C= (p.Leu990=)
22	g.50720824C>G	CA515260398	SHANK3	c.2592C>G (p.Leu864=) n.3176C>G c.1644C>G (p.Leu548=) c.1134C>G (p.Leu378=) c.1590C>G (n.1590C>G) c.2988C>G (p.Leu996=) c.2970C>G (p.Leu990=)	dbSNP gnomAD v4
22	g.50720824C>T	CA515260397	SHANK3	c.2592C>T (p.Leu864=) n.3176C>T c.1644C>T (p.Leu548=) c.1134C>T (p.Leu378=) c.1590C>T (n.1590C>T) c.2988C>T (p.Leu996=) c.2970C>T (p.Leu990=)	dbSNP gnomAD v4
22	g.50720825G>A	CA515260399	SHANK3	c.2593G>A (p.Asp865Asn) n.3177G>A c.1645G>A (p.Asp549Asn) c.1135G>A (p.Asp379Asn) c.1591G>A (n.1591G>A) c.2989G>A (p.Asp997Asn) c.2971G>A (p.Asp991Asn)	gnomAD v4
22	g.50720825G>C	CA515260400	SHANK3	c.2593G>C (p.Asp865His) n.3177G>C c.1645G>C (p.Asp549His) c.1135G>C (p.Asp379His) c.1591G>C (n.1591G>C) c.2989G>C (p.Asp997His) c.2971G>C (p.Asp991His)	gnomAD v4
22	g.50720825G>T	CA515260401	SHANK3	c.2593G>T (p.Asp865Tyr) n.3177G>T c.1645G>T (p.Asp549Tyr) c.1135G>T (p.Asp379Tyr) c.1591G>T (n.1591G>T) c.2989G>T (p.Asp997Tyr) c.2971G>T (p.Asp991Tyr)	gnomAD v4
22	g.50720826A>C	CA515260402	SHANK3	c.2594A>C (p.Asp865Ala) n.3178A>C c.1646A>C (p.Asp549Ala) c.1136A>C (p.Asp379Ala) c.1592A>C (n.1592A>C) c.2990A>C (p.Asp997Ala) c.2972A>C (p.Asp991Ala)
22	g.50720826A>G	CA515260403	SHANK3	c.2594A>G (p.Asp865Gly) n.3178A>G c.1646A>G (p.Asp549Gly) c.1136A>G (p.Asp379Gly) c.1592A>G (n.1592A>G) c.2990A>G (p.Asp997Gly) c.2972A>G (p.Asp991Gly)
22	g.50720826A>T	CA515260404	SHANK3	c.2594A>T (p.Asp865Val) n.3178A>T c.1646A>T (p.Asp549Val) c.1136A>T (p.Asp379Val) c.1592A>T (n.1592A>T) c.2990A>T (p.Asp997Val) c.2972A>T (p.Asp991Val)
22	g.50720827C>A	CA515260405	SHANK3	c.2595C>A (p.Asp865Glu) n.3179C>A c.1647C>A (p.Asp549Glu) c.1137C>A (p.Asp379Glu) c.1593C>A (n.1593C>A) c.2991C>A (p.Asp997Glu) c.2973C>A (p.Asp991Glu)	gnomAD v4
22	g.50720827C=	CA2411007852	SHANK3	c.2595C= (p.Asp865=) n.3179C= c.1647C= (p.Asp549=) c.1137C= (p.Asp379=) c.1593C= (n.1593C=) c.2991C= (p.Asp997=) c.2973C= (p.Asp991=)
22	g.50720827C>G	CA515260406	SHANK3	c.2595C>G (p.Asp865Glu) n.3179C>G c.1647C>G (p.Asp549Glu) c.1137C>G (p.Asp379Glu) c.1593C>G (n.1593C>G) c.2991C>G (p.Asp997Glu) c.2973C>G (p.Asp991Glu)	dbSNP gnomAD v4
22	g.50720827C>T	CA515260407	SHANK3	c.2595C>T (p.Asp865=) n.3179C>T c.1647C>T (p.Asp549=) c.1137C>T (p.Asp379=) c.1593C>T (n.1593C>T) c.2991C>T (p.Asp997=) c.2973C>T (p.Asp991=)	gnomAD v4
22	g.50720828T>A	CA515260409	SHANK3	c.2596T>A (p.Tyr866Asn) n.3180T>A c.1648T>A (p.Tyr550Asn) c.1138T>A (p.Tyr380Asn) c.1594T>A (n.1594T>A) c.2992T>A (p.Tyr998Asn) c.2974T>A (p.Tyr992Asn)
22	g.50720828T>C	CA515260410	SHANK3	c.2596T>C (p.Tyr866His) n.3180T>C c.1648T>C (p.Tyr550His) c.1138T>C (p.Tyr380His) c.1594T>C (n.1594T>C) c.2992T>C (p.Tyr998His) c.2974T>C (p.Tyr992His)	gnomAD v4
22	g.50720828T>G	CA515260408	SHANK3	c.2596T>G (p.Tyr866Asp) n.3180T>G c.1648T>G (p.Tyr550Asp) c.1138T>G (p.Tyr380Asp) c.1594T>G (n.1594T>G) c.2992T>G (p.Tyr998Asp) c.2974T>G (p.Tyr992Asp)
22	g.50720829A=	CA2411007853	SHANK3	c.2597A= (p.Tyr866=) n.3181A= c.1649A= (p.Tyr550=) c.1139A= (p.Tyr380=) c.1595A= (n.1595A=) c.2993A= (p.Tyr998=) c.2975A= (p.Tyr992=)
22	g.50720829A>C	CA515260411	SHANK3	c.2597A>C (p.Tyr866Ser) n.3181A>C c.1649A>C (p.Tyr550Ser) c.1139A>C (p.Tyr380Ser) c.1595A>C (n.1595A>C) c.2993A>C (p.Tyr998Ser) c.2975A>C (p.Tyr992Ser)	gnomAD v3 gnomAD v4
22	g.50720829A>G	CA515260412	SHANK3	c.2597A>G (p.Tyr866Cys) n.3181A>G c.1649A>G (p.Tyr550Cys) c.1139A>G (p.Tyr380Cys) c.1595A>G (n.1595A>G) c.2993A>G (p.Tyr998Cys) c.2975A>G (p.Tyr992Cys)	gnomAD v4
22	g.50720829A>T	CA515260413	SHANK3	c.2597A>T (p.Tyr866Phe) n.3181A>T c.1649A>T (p.Tyr550Phe) c.1139A>T (p.Tyr380Phe) c.1595A>T (n.1595A>T) c.2993A>T (p.Tyr998Phe) c.2975A>T (p.Tyr992Phe)
22	g.50720830del	CA2657583414	SHANK3	c.2598del (p.Tyr866Ter) n.3182del c.1650del (p.Tyr550Ter) c.1140del (p.Tyr380Ter) c.1596del (n.1596del) c.2994del (p.Tyr998Ter) c.2976del (p.Tyr992Ter)	gnomAD v4
22	g.50720830C>A	CA515260414	SHANK3	c.2598C>A (p.Tyr866Ter) n.3182C>A c.1650C>A (p.Tyr550Ter) c.1140C>A (p.Tyr380Ter) c.1596C>A (n.1596C>A) c.2994C>A (p.Tyr998Ter) c.2976C>A (p.Tyr992Ter)	gnomAD v4
22	g.50720830C=	CA2411007854	SHANK3	c.2598C= (p.Tyr866=) n.3182C= c.1650C= (p.Tyr550=) c.1140C= (p.Tyr380=) c.1596C= (n.1596C=) c.2994C= (p.Tyr998=) c.2976C= (p.Tyr992=)
22	g.50720830C>G	CA515260415	SHANK3	c.2598C>G (p.Tyr866Ter) n.3182C>G c.1650C>G (p.Tyr550Ter) c.1140C>G (p.Tyr380Ter) c.1596C>G (n.1596C>G) c.2994C>G (p.Tyr998Ter) c.2976C>G (p.Tyr992Ter)
22	g.50720830C>T	CA10325943	SHANK3	c.2598C>T (p.Tyr866=) n.3182C>T c.1650C>T (p.Tyr550=) c.1140C>T (p.Tyr380=) c.1596C>T (n.1596C>T) c.2994C>T (p.Tyr998=) c.2976C>T (p.Tyr992=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50720834_50720866dup	CA1026672084	SHANK3	c.2602_2634dup (p.Gly878_Pro879insAlaGlyAspGlyProGlyLeuAlaPheGlyGly) n.3186_3218dup c.1654_1686dup (p.Gly562_Pro563insAlaGlyAspGlyProGlyLeuAlaPheGlyGly) c.1144_1176dup (p.Gly392_Pro393insAlaGlyAspGlyProGlyLeuAlaPheGlyGly) c.1600_1632dup (n.1600_1632dup) c.2998_3030dup (p.Gly1010_Pro1011insAlaGlyAspGlyProGlyLeuAlaPheGlyGly) c.2980_3012dup (p.Gly1004_Pro1005insAlaGlyAspGlyProGlyLeuAlaPheGlyGly)	dbSNP gnomAD v3 gnomAD v4
22	g.50720831G>A	CA515260416	SHANK3	c.2599G>A (p.Gly867Ser) n.3183G>A c.1651G>A (p.Gly551Ser) c.1141G>A (p.Gly381Ser) c.1597G>A (n.1597G>A) c.2995G>A (p.Gly999Ser) c.2977G>A (p.Gly993Ser)	gnomAD v4 COSMIC COSMIC
22	g.50720831G>C	CA515260417	SHANK3	c.2599G>C (p.Gly867Arg) n.3183G>C c.1651G>C (p.Gly551Arg) c.1141G>C (p.Gly381Arg) c.1597G>C (n.1597G>C) c.2995G>C (p.Gly999Arg) c.2977G>C (p.Gly993Arg)
22	g.50720831G>T	CA515260418	SHANK3	c.2599G>T (p.Gly867Cys) n.3183G>T c.1651G>T (p.Gly551Cys) c.1141G>T (p.Gly381Cys) c.1597G>T (n.1597G>T) c.2995G>T (p.Gly999Cys) c.2977G>T (p.Gly993Cys)	gnomAD v4
22	g.50720834_50720845dup	CA2411007855	SHANK3	c.2602_2613dup (p.Gly871_Pro872insAlaGlyAspGly) n.3186_3197dup c.1654_1665dup (p.Gly555_Pro556insAlaGlyAspGly) c.1144_1155dup (p.Gly385_Pro386insAlaGlyAspGly) c.1600_1611dup (n.1600_1611dup) c.2998_3009dup (p.Gly1003_Pro1004insAlaGlyAspGly) c.2980_2991dup (p.Gly997_Pro998insAlaGlyAspGly)	dbSNP gnomAD v4
22	g.50720832G>A	CA515260419	SHANK3	c.2600G>A (p.Gly867Asp) n.3184G>A c.1652G>A (p.Gly551Asp) c.1142G>A (p.Gly381Asp) c.1598G>A (n.1598G>A) c.2996G>A (p.Gly999Asp) c.2978G>A (p.Gly993Asp)	dbSNP gnomAD v4
22	g.50720832G>C	CA515260420	SHANK3	c.2600G>C (p.Gly867Ala) n.3184G>C c.1652G>C (p.Gly551Ala) c.1142G>C (p.Gly381Ala) c.1598G>C (n.1598G>C) c.2996G>C (p.Gly999Ala) c.2978G>C (p.Gly993Ala)
22	g.50720832G=	CA2411007856	SHANK3	c.2600G= (p.Gly867=) n.3184G= c.1652G= (p.Gly551=) c.1142G= (p.Gly381=) c.1598G= (n.1598G=) c.2996G= (p.Gly999=) c.2978G= (p.Gly993=)
22	g.50720832G>T	CA515260421	SHANK3	c.2600G>T (p.Gly867Val) n.3184G>T c.1652G>T (p.Gly551Val) c.1142G>T (p.Gly381Val) c.1598G>T (n.1598G>T) c.2996G>T (p.Gly999Val) c.2978G>T (p.Gly993Val)	gnomAD v4
22	g.50720833C>A	CA515260424	SHANK3	c.2601C>A (p.Gly867=) n.3185C>A c.1653C>A (p.Gly551=) c.1143C>A (p.Gly381=) c.1599C>A (n.1599C>A) c.2997C>A (p.Gly999=) c.2979C>A (p.Gly993=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720833C=	CA2411007857	SHANK3	c.2601C= (p.Gly867=) n.3185C= c.1653C= (p.Gly551=) c.1143C= (p.Gly381=) c.1599C= (n.1599C=) c.2997C= (p.Gly999=) c.2979C= (p.Gly993=)
22	g.50720833C>G	CA515260422	SHANK3	c.2601C>G (p.Gly867=) n.3185C>G c.1653C>G (p.Gly551=) c.1143C>G (p.Gly381=) c.1599C>G (n.1599C>G) c.2997C>G (p.Gly999=) c.2979C>G (p.Gly993=)	gnomAD v4
22	g.50720833C>T	CA515260423	SHANK3	c.2601C>T (p.Gly867=) n.3185C>T c.1653C>T (p.Gly551=) c.1143C>T (p.Gly381=) c.1599C>T (n.1599C>T) c.2997C>T (p.Gly999=) c.2979C>T (p.Gly993=)	gnomAD v4
22	g.50720834G>A	CA515260425	SHANK3	c.2602G>A (p.Ala868Thr) n.3186G>A c.1654G>A (p.Ala552Thr) c.1144G>A (p.Ala382Thr) c.1600G>A (n.1600G>A) c.2998G>A (p.Ala1000Thr) c.2980G>A (p.Ala994Thr)	ClinVar dbSNP gnomAD v4
22	g.50720834G>C	CA515260426	SHANK3	c.2602G>C (p.Ala868Pro) n.3186G>C c.1654G>C (p.Ala552Pro) c.1144G>C (p.Ala382Pro) c.1600G>C (n.1600G>C) c.2998G>C (p.Ala1000Pro) c.2980G>C (p.Ala994Pro)	gnomAD v4
22	g.50720834G=	CA2411007858	SHANK3	c.2602G= (p.Ala868=) n.3186G= c.1654G= (p.Ala552=) c.1144G= (p.Ala382=) c.1600G= (n.1600G=) c.2998G= (p.Ala1000=) c.2980G= (p.Ala994=)
22	g.50720834G>T	CA515260427	SHANK3	c.2602G>T (p.Ala868Ser) n.3186G>T c.1654G>T (p.Ala552Ser) c.1144G>T (p.Ala382Ser) c.1600G>T (n.1600G>T) c.2998G>T (p.Ala1000Ser) c.2980G>T (p.Ala994Ser)	gnomAD v4
22	g.50720835C>A	CA515260428	SHANK3	c.2603C>A (p.Ala868Glu) n.3187C>A c.1655C>A (p.Ala552Glu) c.1145C>A (p.Ala382Glu) c.1601C>A (n.1601C>A) c.2999C>A (p.Ala1000Glu) c.2981C>A (p.Ala994Glu)	gnomAD v4
22	g.50720835C=	CA2411007859	SHANK3	c.2603C= (p.Ala868=) n.3187C= c.1655C= (p.Ala552=) c.1145C= (p.Ala382=) c.1601C= (n.1601C=) c.2999C= (p.Ala1000=) c.2981C= (p.Ala994=)
22	g.50720835C>G	CA515260429	SHANK3	c.2603C>G (p.Ala868Gly) n.3187C>G c.1655C>G (p.Ala552Gly) c.1145C>G (p.Ala382Gly) c.1601C>G (n.1601C>G) c.2999C>G (p.Ala1000Gly) c.2981C>G (p.Ala994Gly)	gnomAD v4
22	g.50720835C>T	CA325578365	SHANK3	c.2603C>T (p.Ala868Val) n.3187C>T c.1655C>T (p.Ala552Val) c.1145C>T (p.Ala382Val) c.1601C>T (n.1601C>T) c.2999C>T (p.Ala1000Val) c.2981C>T (p.Ala994Val)	dbSNP gnomAD v3 gnomAD v4
22	g.50720839_50720850del	CA2657583415	SHANK3	c.2607_2618del (p.Asp870_Gly873del) n.3191_3202del c.1659_1670del (p.Asp554_Gly557del) c.1149_1160del (p.Asp384_Gly387del) c.1605_1616del (n.1605_1616del) c.3003_3014del (p.Asp1002_Gly1005del) c.2985_2996del (p.Asp996_Gly999del)	gnomAD v4
22	g.50720836G>A	CA515260430	SHANK3	c.2604G>A (p.Ala868=) n.3188G>A c.1656G>A (p.Ala552=) c.1146G>A (p.Ala382=) c.1602G>A (n.1602G>A) c.3000G>A (p.Ala1000=) c.2982G>A (p.Ala994=)	dbSNP gnomAD v4
22	g.50720836G>C	CA515260431	SHANK3	c.2604G>C (p.Ala868=) n.3188G>C c.1656G>C (p.Ala552=) c.1146G>C (p.Ala382=) c.1602G>C (n.1602G>C) c.3000G>C (p.Ala1000=) c.2982G>C (p.Ala994=)
22	g.50720836G=	CA2411007860	SHANK3	c.2604G= (p.Ala868=) n.3188G= c.1656G= (p.Ala552=) c.1146G= (p.Ala382=) c.1602G= (n.1602G=) c.3000G= (p.Ala1000=) c.2982G= (p.Ala994=)
22	g.50720836G>T	CA515260432	SHANK3	c.2604G>T (p.Ala868=) n.3188G>T c.1656G>T (p.Ala552=) c.1146G>T (p.Ala382=) c.1602G>T (n.1602G>T) c.3000G>T (p.Ala1000=) c.2982G>T (p.Ala994=)	gnomAD v4
22	g.50720837G>A	CA515260433	SHANK3	c.2605G>A (p.Gly869Ser) n.3189G>A c.1657G>A (p.Gly553Ser) c.1147G>A (p.Gly383Ser) c.1603G>A (n.1603G>A) c.3001G>A (p.Gly1001Ser) c.2983G>A (p.Gly995Ser)	gnomAD v4
22	g.50720837G>C	CA515260434	SHANK3	c.2605G>C (p.Gly869Arg) n.3189G>C c.1657G>C (p.Gly553Arg) c.1147G>C (p.Gly383Arg) c.1603G>C (n.1603G>C) c.3001G>C (p.Gly1001Arg) c.2983G>C (p.Gly995Arg)	gnomAD v4
22	g.50720837G>T	CA515260435	SHANK3	c.2605G>T (p.Gly869Cys) n.3189G>T c.1657G>T (p.Gly553Cys) c.1147G>T (p.Gly383Cys) c.1603G>T (n.1603G>T) c.3001G>T (p.Gly1001Cys) c.2983G>T (p.Gly995Cys)	gnomAD v4
22	g.50720838G>A	CA515260438	SHANK3	c.2606G>A (p.Gly869Asp) n.3190G>A c.1658G>A (p.Gly553Asp) c.1148G>A (p.Gly383Asp) c.1604G>A (n.1604G>A) c.3002G>A (p.Gly1001Asp) c.2984G>A (p.Gly995Asp)	gnomAD v4
22	g.50720838G>C	CA515260437	SHANK3	c.2606G>C (p.Gly869Ala) n.3190G>C c.1658G>C (p.Gly553Ala) c.1148G>C (p.Gly383Ala) c.1604G>C (n.1604G>C) c.3002G>C (p.Gly1001Ala) c.2984G>C (p.Gly995Ala)
22	g.50720838G>T	CA515260436	SHANK3	c.2606G>T (p.Gly869Val) n.3190G>T c.1658G>T (p.Gly553Val) c.1148G>T (p.Gly383Val) c.1604G>T (n.1604G>T) c.3002G>T (p.Gly1001Val) c.2984G>T (p.Gly995Val)
22	g.50720839C>A	CA515260439	SHANK3	c.2607C>A (p.Gly869=) n.3191C>A c.1659C>A (p.Gly553=) c.1149C>A (p.Gly383=) c.1605C>A (n.1605C>A) c.3003C>A (p.Gly1001=) c.2985C>A (p.Gly995=)	gnomAD v4
22	g.50720839C=	CA2411007861	SHANK3	c.2607C= (p.Gly869=) n.3191C= c.1659C= (p.Gly553=) c.1149C= (p.Gly383=) c.1605C= (n.1605C=) c.3003C= (p.Gly1001=) c.2985C= (p.Gly995=)
22	g.50720839C>G	CA515260441	SHANK3	c.2607C>G (p.Gly869=) n.3191C>G c.1659C>G (p.Gly553=) c.1149C>G (p.Gly383=) c.1605C>G (n.1605C>G) c.3003C>G (p.Gly1001=) c.2985C>G (p.Gly995=)	gnomAD v4
22	g.50720839C>T	CA515260440	SHANK3	c.2607C>T (p.Gly869=) n.3191C>T c.1659C>T (p.Gly553=) c.1149C>T (p.Gly383=) c.1605C>T (n.1605C>T) c.3003C>T (p.Gly1001=) c.2985C>T (p.Gly995=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720840G>A	CA515260442	SHANK3	c.2608G>A (p.Asp870Asn) n.3192G>A c.1660G>A (p.Asp554Asn) c.1150G>A (p.Asp384Asn) c.1606G>A (n.1606G>A) c.3004G>A (p.Asp1002Asn) c.2986G>A (p.Asp996Asn)	dbSNP gnomAD v4
22	g.50720840G>C	CA515260444	SHANK3	c.2608G>C (p.Asp870His) n.3192G>C c.1660G>C (p.Asp554His) c.1150G>C (p.Asp384His) c.1606G>C (n.1606G>C) c.3004G>C (p.Asp1002His) c.2986G>C (p.Asp996His)
22	g.50720840G=	CA2411007862	SHANK3	c.2608G= (p.Asp870=) n.3192G= c.1660G= (p.Asp554=) c.1150G= (p.Asp384=) c.1606G= (n.1606G=) c.3004G= (p.Asp1002=) c.2986G= (p.Asp996=)
22	g.50720840G>T	CA515260443	SHANK3	c.2608G>T (p.Asp870Tyr) n.3192G>T c.1660G>T (p.Asp554Tyr) c.1150G>T (p.Asp384Tyr) c.1606G>T (n.1606G>T) c.3004G>T (p.Asp1002Tyr) c.2986G>T (p.Asp996Tyr)	gnomAD v4
22	g.50720841A>C	CA515260445	SHANK3	c.2609A>C (p.Asp870Ala) n.3193A>C c.1661A>C (p.Asp554Ala) c.1151A>C (p.Asp384Ala) c.1607A>C (n.1607A>C) c.3005A>C (p.Asp1002Ala) c.2987A>C (p.Asp996Ala)	ClinVar dbSNP
22	g.50720841A>G	CA515260446	SHANK3	c.2609A>G (p.Asp870Gly) n.3193A>G c.1661A>G (p.Asp554Gly) c.1151A>G (p.Asp384Gly) c.1607A>G (n.1607A>G) c.3005A>G (p.Asp1002Gly) c.2987A>G (p.Asp996Gly)	gnomAD v4
22	g.50720841A>T	CA515260447	SHANK3	c.2609A>T (p.Asp870Val) n.3193A>T c.1661A>T (p.Asp554Val) c.1151A>T (p.Asp384Val) c.1607A>T (n.1607A>T) c.3005A>T (p.Asp1002Val) c.2987A>T (p.Asp996Val)
22	g.50720842T>A	CA515260448	SHANK3	c.2610T>A (p.Asp870Glu) n.3194T>A c.1662T>A (p.Asp554Glu) c.1152T>A (p.Asp384Glu) c.1608T>A (n.1608T>A) c.3006T>A (p.Asp1002Glu) c.2988T>A (p.Asp996Glu)	dbSNP
22	g.50720842T>C	CA515260449	SHANK3	c.2610T>C (p.Asp870=) n.3194T>C c.1662T>C (p.Asp554=) c.1152T>C (p.Asp384=) c.1608T>C (n.1608T>C) c.3006T>C (p.Asp1002=) c.2988T>C (p.Asp996=)	gnomAD v4
22	g.50720842T>G	CA515260450	SHANK3	c.2610T>G (p.Asp870Glu) n.3194T>G c.1662T>G (p.Asp554Glu) c.1152T>G (p.Asp384Glu) c.1608T>G (n.1608T>G) c.3006T>G (p.Asp1002Glu) c.2988T>G (p.Asp996Glu)	dbSNP
22	g.50720843G>A	CA515260451	SHANK3	c.2611G>A (p.Gly871Ser) n.3195G>A c.1663G>A (p.Gly555Ser) c.1153G>A (p.Gly385Ser) c.1609G>A (n.1609G>A) c.3007G>A (p.Gly1003Ser) c.2989G>A (p.Gly997Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50720843G>C	CA515260452	SHANK3	c.2611G>C (p.Gly871Arg) n.3195G>C c.1663G>C (p.Gly555Arg) c.1153G>C (p.Gly385Arg) c.1609G>C (n.1609G>C) c.3007G>C (p.Gly1003Arg) c.2989G>C (p.Gly997Arg)
22	g.50720843G=	CA2411007863	SHANK3	c.2611G= (p.Gly871=) n.3195G= c.1663G= (p.Gly555=) c.1153G= (p.Gly385=) c.1609G= (n.1609G=) c.3007G= (p.Gly1003=) c.2989G= (p.Gly997=)
22	g.50720843G>T	CA515260453	SHANK3	c.2611G>T (p.Gly871Cys) n.3195G>T c.1663G>T (p.Gly555Cys) c.1153G>T (p.Gly385Cys) c.1609G>T (n.1609G>T) c.3007G>T (p.Gly1003Cys) c.2989G>T (p.Gly997Cys)	gnomAD v4
22	g.50720851_50720871dup	CA2546940682	SHANK3	c.2619_2639dup (p.Gly880_Pro881insLeuAlaPheGlyGlyProGly) n.3203_3223dup c.1671_1691dup (p.Gly564_Pro565insLeuAlaPheGlyGlyProGly) c.1161_1181dup (p.Gly394_Pro395insLeuAlaPheGlyGlyProGly) c.1617_1637dup (n.1617_1637dup) c.3015_3035dup (p.Gly1012_Pro1013insLeuAlaPheGlyGlyProGly) c.2997_3017dup (p.Gly1006_Pro1007insLeuAlaPheGlyGlyProGly)	gnomAD v4
22	g.50720844G>A	CA515260454	SHANK3	c.2612G>A (p.Gly871Asp) n.3196G>A c.1664G>A (p.Gly555Asp) c.1154G>A (p.Gly385Asp) c.1610G>A (n.1610G>A) c.3008G>A (p.Gly1003Asp) c.2990G>A (p.Gly997Asp)	gnomAD v4
22	g.50720844G>C	CA515260455	SHANK3	c.2612G>C (p.Gly871Ala) n.3196G>C c.1664G>C (p.Gly555Ala) c.1154G>C (p.Gly385Ala) c.1610G>C (n.1610G>C) c.3008G>C (p.Gly1003Ala) c.2990G>C (p.Gly997Ala)
22	g.50720844G>T	CA515260456	SHANK3	c.2612G>T (p.Gly871Val) n.3196G>T c.1664G>T (p.Gly555Val) c.1154G>T (p.Gly385Val) c.1610G>T (n.1610G>T) c.3008G>T (p.Gly1003Val) c.2990G>T (p.Gly997Val)	gnomAD v4
22	g.50720845C>A	CA515260457	SHANK3	c.2613C>A (p.Gly871=) n.3197C>A c.1665C>A (p.Gly555=) c.1155C>A (p.Gly385=) c.1611C>A (n.1611C>A) c.3009C>A (p.Gly1003=) c.2991C>A (p.Gly997=)	gnomAD v4
22	g.50720845C>G	CA515260459	SHANK3	c.2613C>G (p.Gly871=) n.3197C>G c.1665C>G (p.Gly555=) c.1155C>G (p.Gly385=) c.1611C>G (n.1611C>G) c.3009C>G (p.Gly1003=) c.2991C>G (p.Gly997=)	dbSNP
22	g.50720845C>T	CA515260458	SHANK3	c.2613C>T (p.Gly871=) n.3197C>T c.1665C>T (p.Gly555=) c.1155C>T (p.Gly385=) c.1611C>T (n.1611C>T) c.3009C>T (p.Gly1003=) c.2991C>T (p.Gly997=)	gnomAD v4
22	g.50720847del	CA891842414	SHANK3	c.2615del (p.Pro872ArgfsTer?) n.3199del c.1667del (p.Pro556ArgfsTer?) c.1157del (p.Pro386ArgfsTer?) c.1613del (n.1613del) c.3011del (p.Pro1004ArgfsTer?) c.2993del (p.Pro998ArgfsTer?)	gnomAD v4
22	g.50720846C>A	CA515260460	SHANK3	c.2614C>A (p.Pro872Thr) n.3198C>A c.1666C>A (p.Pro556Thr) c.1156C>A (p.Pro386Thr) c.1612C>A (n.1612C>A) c.3010C>A (p.Pro1004Thr) c.2992C>A (p.Pro998Thr)	gnomAD v4
22	g.50720846C=	CA2411007864	SHANK3	c.2614C= (p.Pro872=) n.3198C= c.1666C= (p.Pro556=) c.1156C= (p.Pro386=) c.1612C= (n.1612C=) c.3010C= (p.Pro1004=) c.2992C= (p.Pro998=)
22	g.50720846C>G	CA10325944	SHANK3	c.2614C>G (p.Pro872Ala) n.3198C>G c.1666C>G (p.Pro556Ala) c.1156C>G (p.Pro386Ala) c.1612C>G (n.1612C>G) c.3010C>G (p.Pro1004Ala) c.2992C>G (p.Pro998Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720846C>T	CA515260461	SHANK3	c.2614C>T (p.Pro872Ser) n.3198C>T c.1666C>T (p.Pro556Ser) c.1156C>T (p.Pro386Ser) c.1612C>T (n.1612C>T) c.3010C>T (p.Pro1004Ser) c.2992C>T (p.Pro998Ser)	gnomAD v4
22	g.50720847C>A	CA515260462	SHANK3	c.2615C>A (p.Pro872Gln) n.3199C>A c.1667C>A (p.Pro556Gln) c.1157C>A (p.Pro386Gln) c.1613C>A (n.1613C>A) c.3011C>A (p.Pro1004Gln) c.2993C>A (p.Pro998Gln)	gnomAD v4
22	g.50720847C=	CA2411007865	SHANK3	c.2615C= (p.Pro872=) n.3199C= c.1667C= (p.Pro556=) c.1157C= (p.Pro386=) c.1613C= (n.1613C=) c.3011C= (p.Pro1004=) c.2993C= (p.Pro998=)
22	g.50720847C>G	CA515260463	SHANK3	c.2615C>G (p.Pro872Arg) n.3199C>G c.1667C>G (p.Pro556Arg) c.1157C>G (p.Pro386Arg) c.1613C>G (n.1613C>G) c.3011C>G (p.Pro1004Arg) c.2993C>G (p.Pro998Arg)	dbSNP
22	g.50720847C>T	CA515260464	SHANK3	c.2615C>T (p.Pro872Leu) n.3199C>T c.1667C>T (p.Pro556Leu) c.1157C>T (p.Pro386Leu) c.1613C>T (n.1613C>T) c.3011C>T (p.Pro1004Leu) c.2993C>T (p.Pro998Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720847_50720848insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	CA2819316110	SHANK3	c.2615_2616insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly873ArgfsTer?) n.3199_3200insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT c.1667_1668insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly557ArgfsTer?) c.1157_1158insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly387ArgfsTer?) c.1613_1614insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (n.1613_1614insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT) c.3011_3012insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly1005ArgfsTer?) c.2993_2994insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT (p.Gly999ArgfsTer?)
22	g.50720848G>A	CA515260465	SHANK3	c.2616G>A (p.Pro872=) n.3200G>A c.1668G>A (p.Pro556=) c.1158G>A (p.Pro386=) c.1614G>A (n.1614G>A) c.3012G>A (p.Pro1004=) c.2994G>A (p.Pro998=)	dbSNP gnomAD v4
22	g.50720848G>C	CA515260466	SHANK3	c.2616G>C (p.Pro872=) n.3200G>C c.1668G>C (p.Pro556=) c.1158G>C (p.Pro386=) c.1614G>C (n.1614G>C) c.3012G>C (p.Pro1004=) c.2994G>C (p.Pro998=)	gnomAD v4
22	g.50720848G=	CA2411007866	SHANK3	c.2616G= (p.Pro872=) n.3200G= c.1668G= (p.Pro556=) c.1158G= (p.Pro386=) c.1614G= (n.1614G=) c.3012G= (p.Pro1004=) c.2994G= (p.Pro998=)
22	g.50720848G>T	CA515260467	SHANK3	c.2616G>T (p.Pro872=) n.3200G>T c.1668G>T (p.Pro556=) c.1158G>T (p.Pro386=) c.1614G>T (n.1614G>T) c.3012G>T (p.Pro1004=) c.2994G>T (p.Pro998=)	gnomAD v4
22	g.50720851del	CA2657583416	SHANK3	c.2619del (p.Leu874SerfsTer?) n.3203del c.1671del (p.Leu558SerfsTer?) c.1161del (p.Leu388SerfsTer?) c.1617del (n.1617del) c.3015del (p.Leu1006SerfsTer?) c.2997del (p.Leu1000SerfsTer?)	gnomAD v4
22	g.50720849G>A	CA515260469	SHANK3	c.2617G>A (p.Gly873Arg) n.3201G>A c.1669G>A (p.Gly557Arg) c.1159G>A (p.Gly387Arg) c.1615G>A (n.1615G>A) c.3013G>A (p.Gly1005Arg) c.2995G>A (p.Gly999Arg)	dbSNP gnomAD v3 gnomAD v4
22	g.50720849G>C	CA515260470	SHANK3	c.2617G>C (p.Gly873Arg) n.3201G>C c.1669G>C (p.Gly557Arg) c.1159G>C (p.Gly387Arg) c.1615G>C (n.1615G>C) c.3013G>C (p.Gly1005Arg) c.2995G>C (p.Gly999Arg)
22	g.50720849G=	CA2411007867	SHANK3	c.2617G= (p.Gly873=) n.3201G= c.1669G= (p.Gly557=) c.1159G= (p.Gly387=) c.1615G= (n.1615G=) c.3013G= (p.Gly1005=) c.2995G= (p.Gly999=)
22	g.50720849G>T	CA515260468	SHANK3	c.2617G>T (p.Gly873Trp) n.3201G>T c.1669G>T (p.Gly557Trp) c.1159G>T (p.Gly387Trp) c.1615G>T (n.1615G>T) c.3013G>T (p.Gly1005Trp) c.2995G>T (p.Gly999Trp)	gnomAD v4
22	g.50720850G>A	CA515260471	SHANK3	c.2618G>A (p.Gly873Glu) n.3202G>A c.1670G>A (p.Gly557Glu) c.1160G>A (p.Gly387Glu) c.1616G>A (n.1616G>A) c.3014G>A (p.Gly1005Glu) c.2996G>A (p.Gly999Glu)	dbSNP gnomAD v3 gnomAD v4
22	g.50720850G>C	CA515260472	SHANK3	c.2618G>C (p.Gly873Ala) n.3202G>C c.1670G>C (p.Gly557Ala) c.1160G>C (p.Gly387Ala) c.1616G>C (n.1616G>C) c.3014G>C (p.Gly1005Ala) c.2996G>C (p.Gly999Ala)	dbSNP
22	g.50720850G=	CA2411007868	SHANK3	c.2618G= (p.Gly873=) n.3202G= c.1670G= (p.Gly557=) c.1160G= (p.Gly387=) c.1616G= (n.1616G=) c.3014G= (p.Gly1005=) c.2996G= (p.Gly999=)
22	g.50720850G>T	CA515260473	SHANK3	c.2618G>T (p.Gly873Val) n.3202G>T c.1670G>T (p.Gly557Val) c.1160G>T (p.Gly387Val) c.1616G>T (n.1616G>T) c.3014G>T (p.Gly1005Val) c.2996G>T (p.Gly999Val)
22	g.50720851G>A	CA515260474	SHANK3	c.2619G>A (p.Gly873=) n.3203G>A c.1671G>A (p.Gly557=) c.1161G>A (p.Gly387=) c.1617G>A (n.1617G>A) c.3015G>A (p.Gly1005=) c.2997G>A (p.Gly999=)	gnomAD v4
22	g.50720851G>C	CA515260475	SHANK3	c.2619G>C (p.Gly873=) n.3203G>C c.1671G>C (p.Gly557=) c.1161G>C (p.Gly387=) c.1617G>C (n.1617G>C) c.3015G>C (p.Gly1005=) c.2997G>C (p.Gly999=)
22	g.50720851G>T	CA515260476	SHANK3	c.2619G>T (p.Gly873=) n.3203G>T c.1671G>T (p.Gly557=) c.1161G>T (p.Gly387=) c.1617G>T (n.1617G>T) c.3015G>T (p.Gly1005=) c.2997G>T (p.Gly999=)
22	g.50720852C>A	CA515260477	SHANK3	c.2620C>A (p.Leu874Ile) n.3204C>A c.1672C>A (p.Leu558Ile) c.1162C>A (p.Leu388Ile) c.1618C>A (n.1618C>A) c.3016C>A (p.Leu1006Ile) c.2998C>A (p.Leu1000Ile)	gnomAD v4
22	g.50720852C=	CA2411007869	SHANK3	c.2620C= (p.Leu874=) n.3204C= c.1672C= (p.Leu558=) c.1162C= (p.Leu388=) c.1618C= (n.1618C=) c.3016C= (p.Leu1006=) c.2998C= (p.Leu1000=)
22	g.50720852C>G	CA515260478	SHANK3	c.2620C>G (p.Leu874Val) n.3204C>G c.1672C>G (p.Leu558Val) c.1162C>G (p.Leu388Val) c.1618C>G (n.1618C>G) c.3016C>G (p.Leu1006Val) c.2998C>G (p.Leu1000Val)
22	g.50720852C>T	CA515260479	SHANK3	c.2620C>T (p.Leu874Phe) n.3204C>T c.1672C>T (p.Leu558Phe) c.1162C>T (p.Leu388Phe) c.1618C>T (n.1618C>T) c.3016C>T (p.Leu1006Phe) c.2998C>T (p.Leu1000Phe)	dbSNP gnomAD v4
22	g.50720853T>A	CA515260480	SHANK3	c.2621T>A (p.Leu874His) n.3205T>A c.1673T>A (p.Leu558His) c.1163T>A (p.Leu388His) c.1619T>A (n.1619T>A) c.3017T>A (p.Leu1006His) c.2999T>A (p.Leu1000His)
22	g.50720853T>C	CA515260481	SHANK3	c.2621T>C (p.Leu874Pro) n.3205T>C c.1673T>C (p.Leu558Pro) c.1163T>C (p.Leu388Pro) c.1619T>C (n.1619T>C) c.3017T>C (p.Leu1006Pro) c.2999T>C (p.Leu1000Pro)	dbSNP gnomAD v4
22	g.50720853T>G	CA515260482	SHANK3	c.2621T>G (p.Leu874Arg) n.3205T>G c.1673T>G (p.Leu558Arg) c.1163T>G (p.Leu388Arg) c.1619T>G (n.1619T>G) c.3017T>G (p.Leu1006Arg) c.2999T>G (p.Leu1000Arg)	gnomAD v4
22	g.50720854C>A	CA515260485	SHANK3	c.2622C>A (p.Leu874=) n.3206C>A c.1674C>A (p.Leu558=) c.1164C>A (p.Leu388=) c.1620C>A (n.1620C>A) c.3018C>A (p.Leu1006=) c.3000C>A (p.Leu1000=)	gnomAD v4
22	g.50720854C>G	CA515260483	SHANK3	c.2622C>G (p.Leu874=) n.3206C>G c.1674C>G (p.Leu558=) c.1164C>G (p.Leu388=) c.1620C>G (n.1620C>G) c.3018C>G (p.Leu1006=) c.3000C>G (p.Leu1000=)
22	g.50720854C>T	CA515260484	SHANK3	c.2622C>T (p.Leu874=) n.3206C>T c.1674C>T (p.Leu558=) c.1164C>T (p.Leu388=) c.1620C>T (n.1620C>T) c.3018C>T (p.Leu1006=) c.3000C>T (p.Leu1000=)	gnomAD v4
22	g.50720855G>A	CA325578367	SHANK3	c.2623G>A (p.Ala875Thr) n.3207G>A c.1675G>A (p.Ala559Thr) c.1165G>A (p.Ala389Thr) c.1621G>A (n.1621G>A) c.3019G>A (p.Ala1007Thr) c.3001G>A (p.Ala1001Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720855G>C	CA515260486	SHANK3	c.2623G>C (p.Ala875Pro) n.3207G>C c.1675G>C (p.Ala559Pro) c.1165G>C (p.Ala389Pro) c.1621G>C (n.1621G>C) c.3019G>C (p.Ala1007Pro) c.3001G>C (p.Ala1001Pro)	gnomAD v4
22	g.50720855G=	CA2411007870	SHANK3	c.2623G= (p.Ala875=) n.3207G= c.1675G= (p.Ala559=) c.1165G= (p.Ala389=) c.1621G= (n.1621G=) c.3019G= (p.Ala1007=) c.3001G= (p.Ala1001=)
22	g.50720855G>T	CA515260487	SHANK3	c.2623G>T (p.Ala875Ser) n.3207G>T c.1675G>T (p.Ala559Ser) c.1165G>T (p.Ala389Ser) c.1621G>T (n.1621G>T) c.3019G>T (p.Ala1007Ser) c.3001G>T (p.Ala1001Ser)	dbSNP gnomAD v3 gnomAD v4
22	g.50720856_50720894del	CA2819316113	SHANK3	c.2624_2662del (p.Ala875_Leu887del) n.3208_3246del c.1676_1714del (p.Ala559_Leu571del) c.1166_1204del (p.Ala389_Leu401del) c.1622_1660del (n.1622_1660del) c.3020_3058del (p.Ala1007_Leu1019del) c.3002_3040del (p.Ala1001_Leu1013del)
22	g.50720856C>A	CA515260488	SHANK3	c.2624C>A (p.Ala875Glu) n.3208C>A c.1676C>A (p.Ala559Glu) c.1166C>A (p.Ala389Glu) c.1622C>A (n.1622C>A) c.3020C>A (p.Ala1007Glu) c.3002C>A (p.Ala1001Glu)	gnomAD v4
22	g.50720856C>G	CA515260489	SHANK3	c.2624C>G (p.Ala875Gly) n.3208C>G c.1676C>G (p.Ala559Gly) c.1166C>G (p.Ala389Gly) c.1622C>G (n.1622C>G) c.3020C>G (p.Ala1007Gly) c.3002C>G (p.Ala1001Gly)	gnomAD v4
22	g.50720856C>T	CA515260490	SHANK3	c.2624C>T (p.Ala875Val) n.3208C>T c.1676C>T (p.Ala559Val) c.1166C>T (p.Ala389Val) c.1622C>T (n.1622C>T) c.3020C>T (p.Ala1007Val) c.3002C>T (p.Ala1001Val)	gnomAD v4
22	g.50720857G>A	CA515260491	SHANK3	c.2625G>A (p.Ala875=) n.3209G>A c.1677G>A (p.Ala559=) c.1167G>A (p.Ala389=) c.1623G>A (n.1623G>A) c.3021G>A (p.Ala1007=) c.3003G>A (p.Ala1001=)	gnomAD v4
22	g.50720857G>C	CA515260492	SHANK3	c.2625G>C (p.Ala875=) n.3209G>C c.1677G>C (p.Ala559=) c.1167G>C (p.Ala389=) c.1623G>C (n.1623G>C) c.3021G>C (p.Ala1007=) c.3003G>C (p.Ala1001=)	dbSNP
22	g.50720857G=	CA2411007871	SHANK3	c.2625G= (p.Ala875=) n.3209G= c.1677G= (p.Ala559=) c.1167G= (p.Ala389=) c.1623G= (n.1623G=) c.3021G= (p.Ala1007=) c.3003G= (p.Ala1001=)
22	g.50720857G>T	CA515260493	SHANK3	c.2625G>T (p.Ala875=) n.3209G>T c.1677G>T (p.Ala559=) c.1167G>T (p.Ala389=) c.1623G>T (n.1623G>T) c.3021G>T (p.Ala1007=) c.3003G>T (p.Ala1001=)	gnomAD v4
22	g.50720858T>A	CA515260494	SHANK3	c.2626T>A (p.Phe876Ile) n.3210T>A c.1678T>A (p.Phe560Ile) c.1168T>A (p.Phe390Ile) c.1624T>A (n.1624T>A) c.3022T>A (p.Phe1008Ile) c.3004T>A (p.Phe1002Ile)
22	g.50720858T>C	CA515260495	SHANK3	c.2626T>C (p.Phe876Leu) n.3210T>C c.1678T>C (p.Phe560Leu) c.1168T>C (p.Phe390Leu) c.1624T>C (n.1624T>C) c.3022T>C (p.Phe1008Leu) c.3004T>C (p.Phe1002Leu)	gnomAD v4
22	g.50720858T>G	CA515260496	SHANK3	c.2626T>G (p.Phe876Val) n.3210T>G c.1678T>G (p.Phe560Val) c.1168T>G (p.Phe390Val) c.1624T>G (n.1624T>G) c.3022T>G (p.Phe1008Val) c.3004T>G (p.Phe1002Val)	ClinVar gnomAD v3 gnomAD v4
22	g.50720859del	CA2580099968	SHANK3	c.2627del (p.Phe876SerfsTer?) n.3211del c.1679del (p.Phe560SerfsTer?) c.1169del (p.Phe390SerfsTer?) c.1625del (n.1625del) c.3023del (p.Phe1008SerfsTer?) c.3005del (p.Phe1002SerfsTer?)	ClinVar
22	g.50720859T>A	CA515260499	SHANK3	c.2627T>A (p.Phe876Tyr) n.3211T>A c.1679T>A (p.Phe560Tyr) c.1169T>A (p.Phe390Tyr) c.1625T>A (n.1625T>A) c.3023T>A (p.Phe1008Tyr) c.3005T>A (p.Phe1002Tyr)
22	g.50720859T>C	CA515260498	SHANK3	c.2627T>C (p.Phe876Ser) n.3211T>C c.1679T>C (p.Phe560Ser) c.1169T>C (p.Phe390Ser) c.1625T>C (n.1625T>C) c.3023T>C (p.Phe1008Ser) c.3005T>C (p.Phe1002Ser)	dbSNP
22	g.50720859T>G	CA515260497	SHANK3	c.2627T>G (p.Phe876Cys) n.3211T>G c.1679T>G (p.Phe560Cys) c.1169T>G (p.Phe390Cys) c.1625T>G (n.1625T>G) c.3023T>G (p.Phe1008Cys) c.3005T>G (p.Phe1002Cys)
22	g.50720860C>A	CA515260500	SHANK3	c.2628C>A (p.Phe876Leu) n.3212C>A c.1680C>A (p.Phe560Leu) c.1170C>A (p.Phe390Leu) c.1626C>A (n.1626C>A) c.3024C>A (p.Phe1008Leu) c.3006C>A (p.Phe1002Leu)	gnomAD v4
22	g.50720860C=	CA2411007872	SHANK3	c.2628C= (p.Phe876=) n.3212C= c.1680C= (p.Phe560=) c.1170C= (p.Phe390=) c.1626C= (n.1626C=) c.3024C= (p.Phe1008=) c.3006C= (p.Phe1002=)
22	g.50720860C>G	CA515260501	SHANK3	c.2628C>G (p.Phe876Leu) n.3212C>G c.1680C>G (p.Phe560Leu) c.1170C>G (p.Phe390Leu) c.1626C>G (n.1626C>G) c.3024C>G (p.Phe1008Leu) c.3006C>G (p.Phe1002Leu)	dbSNP gnomAD v4
22	g.50720860C>T	CA515260502	SHANK3	c.2628C>T (p.Phe876=) n.3212C>T c.1680C>T (p.Phe560=) c.1170C>T (p.Phe390=) c.1626C>T (n.1626C>T) c.3024C>T (p.Phe1008=) c.3006C>T (p.Phe1002=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720861G>A	CA515260503	SHANK3	c.2629G>A (p.Gly877Ser) n.3213G>A c.1681G>A (p.Gly561Ser) c.1171G>A (p.Gly391Ser) c.1627G>A (n.1627G>A) c.3025G>A (p.Gly1009Ser) c.3007G>A (p.Gly1003Ser)	gnomAD v4
22	g.50720861G>C	CA515260504	SHANK3	c.2629G>C (p.Gly877Arg) n.3213G>C c.1681G>C (p.Gly561Arg) c.1171G>C (p.Gly391Arg) c.1627G>C (n.1627G>C) c.3025G>C (p.Gly1009Arg) c.3007G>C (p.Gly1003Arg)
22	g.50720861G>T	CA515260505	SHANK3	c.2629G>T (p.Gly877Cys) n.3213G>T c.1681G>T (p.Gly561Cys) c.1171G>T (p.Gly391Cys) c.1627G>T (n.1627G>T) c.3025G>T (p.Gly1009Cys) c.3007G>T (p.Gly1003Cys)	gnomAD v4
22	g.50720862G>A	CA515260508	SHANK3	c.2630G>A (p.Gly877Asp) n.3214G>A c.1682G>A (p.Gly561Asp) c.1172G>A (p.Gly391Asp) c.1628G>A (n.1628G>A) c.3026G>A (p.Gly1009Asp) c.3008G>A (p.Gly1003Asp)	gnomAD v4
22	g.50720862G>C	CA515260507	SHANK3	c.2630G>C (p.Gly877Ala) n.3214G>C c.1682G>C (p.Gly561Ala) c.1172G>C (p.Gly391Ala) c.1628G>C (n.1628G>C) c.3026G>C (p.Gly1009Ala) c.3008G>C (p.Gly1003Ala)
22	g.50720862G>T	CA515260506	SHANK3	c.2630G>T (p.Gly877Val) n.3214G>T c.1682G>T (p.Gly561Val) c.1172G>T (p.Gly391Val) c.1628G>T (n.1628G>T) c.3026G>T (p.Gly1009Val) c.3008G>T (p.Gly1003Val)	gnomAD v4
22	g.50720863C>A	CA515260509	SHANK3	c.2631C>A (p.Gly877=) n.3215C>A c.1683C>A (p.Gly561=) c.1173C>A (p.Gly391=) c.1629C>A (n.1629C>A) c.3027C>A (p.Gly1009=) c.3009C>A (p.Gly1003=)	gnomAD v4
22	g.50720863C=	CA2411007873	SHANK3	c.2631C= (p.Gly877=) n.3215C= c.1683C= (p.Gly561=) c.1173C= (p.Gly391=) c.1629C= (n.1629C=) c.3027C= (p.Gly1009=) c.3009C= (p.Gly1003=)
22	g.50720863C>G	CA515260510	SHANK3	c.2631C>G (p.Gly877=) n.3215C>G c.1683C>G (p.Gly561=) c.1173C>G (p.Gly391=) c.1629C>G (n.1629C>G) c.3027C>G (p.Gly1009=) c.3009C>G (p.Gly1003=)
22	g.50720863C>T	CA515260511	SHANK3	c.2631C>T (p.Gly877=) n.3215C>T c.1683C>T (p.Gly561=) c.1173C>T (p.Gly391=) c.1629C>T (n.1629C>T) c.3027C>T (p.Gly1009=) c.3009C>T (p.Gly1003=)	dbSNP gnomAD v4
22	g.50720864G>A	CA515260512	SHANK3	c.2632G>A (p.Gly878Ser) n.3216G>A c.1684G>A (p.Gly562Ser) c.1174G>A (p.Gly392Ser) c.1630G>A (n.1630G>A) c.3028G>A (p.Gly1010Ser) c.3010G>A (p.Gly1004Ser)	gnomAD v4
22	g.50720864G>C	CA515260513	SHANK3	c.2632G>C (p.Gly878Arg) n.3216G>C c.1684G>C (p.Gly562Arg) c.1174G>C (p.Gly392Arg) c.1630G>C (n.1630G>C) c.3028G>C (p.Gly1010Arg) c.3010G>C (p.Gly1004Arg)
22	g.50720864G>T	CA515260514	SHANK3	c.2632G>T (p.Gly878Cys) n.3216G>T c.1684G>T (p.Gly562Cys) c.1174G>T (p.Gly392Cys) c.1630G>T (n.1630G>T) c.3028G>T (p.Gly1010Cys) c.3010G>T (p.Gly1004Cys)	gnomAD v4
22	g.50720865G>A	CA515260515	SHANK3	c.2633G>A (p.Gly878Asp) n.3217G>A c.1685G>A (p.Gly562Asp) c.1175G>A (p.Gly392Asp) c.1631G>A (n.1631G>A) c.3029G>A (p.Gly1010Asp) c.3011G>A (p.Gly1004Asp)	gnomAD v4
22	g.50720865G>C	CA515260516	SHANK3	c.2633G>C (p.Gly878Ala) n.3217G>C c.1685G>C (p.Gly562Ala) c.1175G>C (p.Gly392Ala) c.1631G>C (n.1631G>C) c.3029G>C (p.Gly1010Ala) c.3011G>C (p.Gly1004Ala)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50720865G=	CA2411007874	SHANK3	c.2633G= (p.Gly878=) n.3217G= c.1685G= (p.Gly562=) c.1175G= (p.Gly392=) c.1631G= (n.1631G=) c.3029G= (p.Gly1010=) c.3011G= (p.Gly1004=)
22	g.50720865G>T	CA10325945	SHANK3	c.2633G>T (p.Gly878Val) n.3217G>T c.1685G>T (p.Gly562Val) c.1175G>T (p.Gly392Val) c.1631G>T (n.1631G>T) c.3029G>T (p.Gly1010Val) c.3011G>T (p.Gly1004Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720866C>A	CA515260517	SHANK3	c.2634C>A (p.Gly878=) n.3218C>A c.1686C>A (p.Gly562=) c.1176C>A (p.Gly392=) c.1632C>A (n.1632C>A) c.3030C>A (p.Gly1010=) c.3012C>A (p.Gly1004=)	gnomAD v4
22	g.50720866C>G	CA515260518	SHANK3	c.2634C>G (p.Gly878=) n.3218C>G c.1686C>G (p.Gly562=) c.1176C>G (p.Gly392=) c.1632C>G (n.1632C>G) c.3030C>G (p.Gly1010=) c.3012C>G (p.Gly1004=)	gnomAD v4
22	g.50720866C>T	CA515260519	SHANK3	c.2634C>T (p.Gly878=) n.3218C>T c.1686C>T (p.Gly562=) c.1176C>T (p.Gly392=) c.1632C>T (n.1632C>T) c.3030C>T (p.Gly1010=) c.3012C>T (p.Gly1004=)	gnomAD v4
22	g.50720868del	CA2819316118	SHANK3	c.2636del (p.Pro879ArgfsTer?) n.3220del c.1688del (p.Pro563ArgfsTer?) c.1178del (p.Pro393ArgfsTer?) c.1634del (n.1634del) c.3032del (p.Pro1011ArgfsTer?) c.3014del (p.Pro1005ArgfsTer?)
22	g.50720873_50720874insGCCGAACGCGAGCCCCGGGCC	CA2819316117	SHANK3	c.2641_2642insGCCGAACGCGAGCCCCGGGCC (p.Gly880_Pro881insArgArgThrArgAlaProGly) n.3225_3226insGCCGAACGCGAGCCCCGGGCC c.1693_1694insGCCGAACGCGAGCCCCGGGCC (p.Gly564_Pro565insArgArgThrArgAlaProGly) c.1183_1184insGCCGAACGCGAGCCCCGGGCC (p.Gly394_Pro395insArgArgThrArgAlaProGly) c.1639_1640insGCCGAACGCGAGCCCCGGGCC (n.1639_1640insGCCGAACGCGAGCCCCGGGCC) c.3037_3038insGCCGAACGCGAGCCCCGGGCC (p.Gly1012_Pro1013insArgArgThrArgAlaProGly) c.3019_3020insGCCGAACGCGAGCCCCGGGCC (p.Gly1006_Pro1007insArgArgThrArgAlaProGly)
22	g.50720867C>A	CA515260520	SHANK3	c.2635C>A (p.Pro879Thr) n.3219C>A c.1687C>A (p.Pro563Thr) c.1177C>A (p.Pro393Thr) c.1633C>A (n.1633C>A) c.3031C>A (p.Pro1011Thr) c.3013C>A (p.Pro1005Thr)	gnomAD v4
22	g.50720867C=	CA2411007875	SHANK3	c.2635C= (p.Pro879=) n.3219C= c.1687C= (p.Pro563=) c.1177C= (p.Pro393=) c.1633C= (n.1633C=) c.3031C= (p.Pro1011=) c.3013C= (p.Pro1005=)
22	g.50720867C>G	CA515260521	SHANK3	c.2635C>G (p.Pro879Ala) n.3219C>G c.1687C>G (p.Pro563Ala) c.1177C>G (p.Pro393Ala) c.1633C>G (n.1633C>G) c.3031C>G (p.Pro1011Ala) c.3013C>G (p.Pro1005Ala)	dbSNP
22	g.50720867C>T	CA515260522	SHANK3	c.2635C>T (p.Pro879Ser) n.3219C>T c.1687C>T (p.Pro563Ser) c.1177C>T (p.Pro393Ser) c.1633C>T (n.1633C>T) c.3031C>T (p.Pro1011Ser) c.3013C>T (p.Pro1005Ser)
22	g.50720868C>A	CA515260523	SHANK3	c.2636C>A (p.Pro879Gln) n.3220C>A c.1688C>A (p.Pro563Gln) c.1178C>A (p.Pro393Gln) c.1634C>A (n.1634C>A) c.3032C>A (p.Pro1011Gln) c.3014C>A (p.Pro1005Gln)	gnomAD v4
22	g.50720868C=	CA2411007876	SHANK3	c.2636C= (p.Pro879=) n.3220C= c.1688C= (p.Pro563=) c.1178C= (p.Pro393=) c.1634C= (n.1634C=) c.3032C= (p.Pro1011=) c.3014C= (p.Pro1005=)
22	g.50720868C>G	CA515260524	SHANK3	c.2636C>G (p.Pro879Arg) n.3220C>G c.1688C>G (p.Pro563Arg) c.1178C>G (p.Pro393Arg) c.1634C>G (n.1634C>G) c.3032C>G (p.Pro1011Arg) c.3014C>G (p.Pro1005Arg)
22	g.50720868C>T	CA515260525	SHANK3	c.2636C>T (p.Pro879Leu) n.3220C>T c.1688C>T (p.Pro563Leu) c.1178C>T (p.Pro393Leu) c.1634C>T (n.1634C>T) c.3032C>T (p.Pro1011Leu) c.3014C>T (p.Pro1005Leu)	dbSNP gnomAD v3 gnomAD v4
22	g.50720869G>A	CA515260526	SHANK3	c.2637G>A (p.Pro879=) n.3221G>A c.1689G>A (p.Pro563=) c.1179G>A (p.Pro393=) c.1635G>A (n.1635G>A) c.3033G>A (p.Pro1011=) c.3015G>A (p.Pro1005=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720869G>C	CA515260527	SHANK3	c.2637G>C (p.Pro879=) n.3221G>C c.1689G>C (p.Pro563=) c.1179G>C (p.Pro393=) c.1635G>C (n.1635G>C) c.3033G>C (p.Pro1011=) c.3015G>C (p.Pro1005=)	gnomAD v4
22	g.50720869G=	CA2411007877	SHANK3	c.2637G= (p.Pro879=) n.3221G= c.1689G= (p.Pro563=) c.1179G= (p.Pro393=) c.1635G= (n.1635G=) c.3033G= (p.Pro1011=) c.3015G= (p.Pro1005=)
22	g.50720869G>T	CA515260528	SHANK3	c.2637G>T (p.Pro879=) n.3221G>T c.1689G>T (p.Pro563=) c.1179G>T (p.Pro393=) c.1635G>T (n.1635G>T) c.3033G>T (p.Pro1011=) c.3015G>T (p.Pro1005=)	dbSNP gnomAD v2 gnomAD v4
22	g.50720871del	CA2657583417	SHANK3	c.2639del (p.Gly880AlafsTer?) n.3223del c.1691del (p.Gly564AlafsTer?) c.1181del (p.Gly394AlafsTer?) c.1637del (n.1637del) c.3035del (p.Gly1012AlafsTer?) c.3017del (p.Gly1006AlafsTer?)	gnomAD v4
22	g.50720870G>A	CA515260529	SHANK3	c.2638G>A (p.Gly880Ser) n.3222G>A c.1690G>A (p.Gly564Ser) c.1180G>A (p.Gly394Ser) c.1636G>A (n.1636G>A) c.3034G>A (p.Gly1012Ser) c.3016G>A (p.Gly1006Ser)	gnomAD v4
22	g.50720870G>C	CA515260531	SHANK3	c.2638G>C (p.Gly880Arg) n.3222G>C c.1690G>C (p.Gly564Arg) c.1180G>C (p.Gly394Arg) c.1636G>C (n.1636G>C) c.3034G>C (p.Gly1012Arg) c.3016G>C (p.Gly1006Arg)
22	g.50720870G>T	CA515260530	SHANK3	c.2638G>T (p.Gly880Cys) n.3222G>T c.1690G>T (p.Gly564Cys) c.1180G>T (p.Gly394Cys) c.1636G>T (n.1636G>T) c.3034G>T (p.Gly1012Cys) c.3016G>T (p.Gly1006Cys)	gnomAD v4
22	g.50720871G>A	CA515260532	SHANK3	c.2639G>A (p.Gly880Asp) n.3223G>A c.1691G>A (p.Gly564Asp) c.1181G>A (p.Gly394Asp) c.1637G>A (n.1637G>A) c.3035G>A (p.Gly1012Asp) c.3017G>A (p.Gly1006Asp)	gnomAD v4
22	g.50720871G>C	CA515260533	SHANK3	c.2639G>C (p.Gly880Ala) n.3223G>C c.1691G>C (p.Gly564Ala) c.1181G>C (p.Gly394Ala) c.1637G>C (n.1637G>C) c.3035G>C (p.Gly1012Ala) c.3017G>C (p.Gly1006Ala)	gnomAD v4
22	g.50720871G=	CA2411007878	SHANK3	c.2639G= (p.Gly880=) n.3223G= c.1691G= (p.Gly564=) c.1181G= (p.Gly394=) c.1637G= (n.1637G=) c.3035G= (p.Gly1012=) c.3017G= (p.Gly1006=)
22	g.50720871G>T	CA515260534	SHANK3	c.2639G>T (p.Gly880Val) n.3223G>T c.1691G>T (p.Gly564Val) c.1181G>T (p.Gly394Val) c.1637G>T (n.1637G>T) c.3035G>T (p.Gly1012Val) c.3017G>T (p.Gly1006Val)	dbSNP gnomAD v4
22	g.50720872C>A	CA515260535	SHANK3	c.2640C>A (p.Gly880=) n.3224C>A c.1692C>A (p.Gly564=) c.1182C>A (p.Gly394=) c.1638C>A (n.1638C>A) c.3036C>A (p.Gly1012=) c.3018C>A (p.Gly1006=)	gnomAD v4
22	g.50720872C=	CA2411007879	SHANK3	c.2640C= (p.Gly880=) n.3224C= c.1692C= (p.Gly564=) c.1182C= (p.Gly394=) c.1638C= (n.1638C=) c.3036C= (p.Gly1012=) c.3018C= (p.Gly1006=)
22	g.50720872C>G	CA515260536	SHANK3	c.2640C>G (p.Gly880=) n.3224C>G c.1692C>G (p.Gly564=) c.1182C>G (p.Gly394=) c.1638C>G (n.1638C>G) c.3036C>G (p.Gly1012=) c.3018C>G (p.Gly1006=)
22	g.50720872C>T	CA515260537	SHANK3	c.2640C>T (p.Gly880=) n.3224C>T c.1692C>T (p.Gly564=) c.1182C>T (p.Gly394=) c.1638C>T (n.1638C>T) c.3036C>T (p.Gly1012=) c.3018C>T (p.Gly1006=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720873_50720878dup	CA2577768681	SHANK3	c.2641_2646dup (p.Ala882_Lys883insProAla) n.3225_3230dup c.1693_1698dup (p.Ala566_Lys567insProAla) c.1183_1188dup (p.Ala396_Lys397insProAla) c.1639_1644dup (n.1639_1644dup) c.3037_3042dup (p.Ala1014_Lys1015insProAla) c.3019_3024dup (p.Ala1008_Lys1009insProAla)	gnomAD v4
22	g.50720872_50720883delinsCCCGGCCAAGGA	CA2411007880	SHANK3	c.2640_2651delinsCCCGGCCAAGGA (p.Gly880=) n.3224_3235delinsCCCGGCCAAGGA c.1692_1703delinsCCCGGCCAAGGA (p.Gly564=) c.1182_1193delinsCCCGGCCAAGGA (p.Gly394=) c.1638_1649delinsCCCGGCCAAGGA (n.1638_1649delinsCCCGGCCAAGGA) c.3036_3047delinsCCCGGCCAAGGA (p.Gly1012=) c.3018_3029delinsCCCGGCCAAGGA (p.Gly1006=)
22	g.50720873C>A	CA515260538	SHANK3	c.2641C>A (p.Pro881Thr) n.3225C>A c.1693C>A (p.Pro565Thr) c.1183C>A (p.Pro395Thr) c.1639C>A (n.1639C>A) c.3037C>A (p.Pro1013Thr) c.3019C>A (p.Pro1007Thr)	gnomAD v4
22	g.50720873C=	CA2411007881	SHANK3	c.2641C= (p.Pro881=) n.3225C= c.1693C= (p.Pro565=) c.1183C= (p.Pro395=) c.1639C= (n.1639C=) c.3037C= (p.Pro1013=) c.3019C= (p.Pro1007=)
22	g.50720873C>G	CA515260539	SHANK3	c.2641C>G (p.Pro881Ala) n.3225C>G c.1693C>G (p.Pro565Ala) c.1183C>G (p.Pro395Ala) c.1639C>G (n.1639C>G) c.3037C>G (p.Pro1013Ala) c.3019C>G (p.Pro1007Ala)	dbSNP
22	g.50720873C>T	CA515260540	SHANK3	c.2641C>T (p.Pro881Ser) n.3225C>T c.1693C>T (p.Pro565Ser) c.1183C>T (p.Pro395Ser) c.1639C>T (n.1639C>T) c.3037C>T (p.Pro1013Ser) c.3019C>T (p.Pro1007Ser)	dbSNP
22	g.50720878_50720888del	CA1139667202	SHANK3	c.2646_2656del (p.Lys883AlafsTer?) n.3230_3240del c.1698_1708del (p.Lys567AlafsTer?) c.1188_1198del (p.Lys397AlafsTer?) c.1644_1654del (n.1644_1654del) c.3042_3052del (p.Lys1015AlafsTer?) c.3024_3034del (p.Lys1009AlafsTer?)	ClinVar dbSNP
22	g.50720874C>A	CA515260541	SHANK3	c.2642C>A (p.Pro881Gln) n.3226C>A c.1694C>A (p.Pro565Gln) c.1184C>A (p.Pro395Gln) c.1640C>A (n.1640C>A) c.3038C>A (p.Pro1013Gln) c.3020C>A (p.Pro1007Gln)	gnomAD v4
22	g.50720874C=	CA2411007882	SHANK3	c.2642C= (p.Pro881=) n.3226C= c.1694C= (p.Pro565=) c.1184C= (p.Pro395=) c.1640C= (n.1640C=) c.3038C= (p.Pro1013=) c.3020C= (p.Pro1007=)
22	g.50720874C>G	CA515260542	SHANK3	c.2642C>G (p.Pro881Arg) n.3226C>G c.1694C>G (p.Pro565Arg) c.1184C>G (p.Pro395Arg) c.1640C>G (n.1640C>G) c.3038C>G (p.Pro1013Arg) c.3020C>G (p.Pro1007Arg)
22	g.50720874C>T	CA515260543	SHANK3	c.2642C>T (p.Pro881Leu) n.3226C>T c.1694C>T (p.Pro565Leu) c.1184C>T (p.Pro395Leu) c.1640C>T (n.1640C>T) c.3038C>T (p.Pro1013Leu) c.3020C>T (p.Pro1007Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720874_50720875insAA	CA2544619542	SHANK3	c.2642_2643insAA (p.Ala882ArgfsTer?) n.3226_3227insAA c.1694_1695insAA (p.Ala566ArgfsTer?) c.1184_1185insAA (p.Ala396ArgfsTer?) c.1640_1641insAA (n.1640_1641insAA) c.3038_3039insAA (p.Ala1014ArgfsTer?) c.3020_3021insAA (p.Ala1008ArgfsTer?)
22	g.50720875G>A	CA10325946	SHANK3	c.2643G>A (p.Pro881=) n.3227G>A c.1695G>A (p.Pro565=) c.1185G>A (p.Pro395=) c.1641G>A (n.1641G>A) c.3039G>A (p.Pro1013=) c.3021G>A (p.Pro1007=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50720875G>C	CA515260544	SHANK3	c.2643G>C (p.Pro881=) n.3227G>C c.1695G>C (p.Pro565=) c.1185G>C (p.Pro395=) c.1641G>C (n.1641G>C) c.3039G>C (p.Pro1013=) c.3021G>C (p.Pro1007=)	dbSNP gnomAD v3 gnomAD v4
22	g.50720875G=	CA2411007883	SHANK3	c.2643G= (p.Pro881=) n.3227G= c.1695G= (p.Pro565=) c.1185G= (p.Pro395=) c.1641G= (n.1641G=) c.3039G= (p.Pro1013=) c.3021G= (p.Pro1007=)
22	g.50720875G>T	CA515260545	SHANK3	c.2643G>T (p.Pro881=) n.3227G>T c.1695G>T (p.Pro565=) c.1185G>T (p.Pro395=) c.1641G>T (n.1641G>T) c.3039G>T (p.Pro1013=) c.3021G>T (p.Pro1007=)
22	g.50720876G>A	CA515260546	SHANK3	c.2644G>A (p.Ala882Thr) n.3228G>A c.1696G>A (p.Ala566Thr) c.1186G>A (p.Ala396Thr) c.1642G>A (n.1642G>A) c.3040G>A (p.Ala1014Thr) c.3022G>A (p.Ala1008Thr)	gnomAD v4
22	g.50720876G>C	CA515260547	SHANK3	c.2644G>C (p.Ala882Pro) n.3228G>C c.1696G>C (p.Ala566Pro) c.1186G>C (p.Ala396Pro) c.1642G>C (n.1642G>C) c.3040G>C (p.Ala1014Pro) c.3022G>C (p.Ala1008Pro)	gnomAD v4
22	g.50720876G>T	CA515260548	SHANK3	c.2644G>T (p.Ala882Ser) n.3228G>T c.1696G>T (p.Ala566Ser) c.1186G>T (p.Ala396Ser) c.1642G>T (n.1642G>T) c.3040G>T (p.Ala1014Ser) c.3022G>T (p.Ala1008Ser)	gnomAD v4
22	g.50720876_50720877del	CA2515735889	SHANK3	c.2644_2645del (p.Ala882GlnfsTer?) n.3228_3229del c.1696_1697del (p.Ala566GlnfsTer?) c.1186_1187del (p.Ala396GlnfsTer?) c.1642_1643del (n.1642_1643del) c.3040_3041del (p.Ala1014GlnfsTer?) c.3022_3023del (p.Ala1008GlnfsTer?)
22	g.50720877C>A	CA515260549	SHANK3	c.2645C>A (p.Ala882Asp) n.3229C>A c.1697C>A (p.Ala566Asp) c.1187C>A (p.Ala396Asp) c.1643C>A (n.1643C>A) c.3041C>A (p.Ala1014Asp) c.3023C>A (p.Ala1008Asp)	gnomAD v4
22	g.50720877C>G	CA515260550	SHANK3	c.2645C>G (p.Ala882Gly) n.3229C>G c.1697C>G (p.Ala566Gly) c.1187C>G (p.Ala396Gly) c.1643C>G (n.1643C>G) c.3041C>G (p.Ala1014Gly) c.3023C>G (p.Ala1008Gly)	gnomAD v3 gnomAD v4
22	g.50720877C>T	CA515260551	SHANK3	c.2645C>T (p.Ala882Val) n.3229C>T c.1697C>T (p.Ala566Val) c.1187C>T (p.Ala396Val) c.1643C>T (n.1643C>T) c.3041C>T (p.Ala1014Val) c.3023C>T (p.Ala1008Val)	gnomAD v4
22	g.50720878C>A	CA515260552	SHANK3	c.2646C>A (p.Ala882=) n.3230C>A c.1698C>A (p.Ala566=) c.1188C>A (p.Ala396=) c.1644C>A (n.1644C>A) c.3042C>A (p.Ala1014=) c.3024C>A (p.Ala1008=)	gnomAD v4
22	g.50720878C=	CA2411007884	SHANK3	c.2646C= (p.Ala882=) n.3230C= c.1698C= (p.Ala566=) c.1188C= (p.Ala396=) c.1644C= (n.1644C=) c.3042C= (p.Ala1014=) c.3024C= (p.Ala1008=)
22	g.50720878C>G	CA515260553	SHANK3	c.2646C>G (p.Ala882=) n.3230C>G c.1698C>G (p.Ala566=) c.1188C>G (p.Ala396=) c.1644C>G (n.1644C>G) c.3042C>G (p.Ala1014=) c.3024C>G (p.Ala1008=)	gnomAD v4
22	g.50720878C>T	CA10325947	SHANK3	c.2646C>T (p.Ala882=) n.3230C>T c.1698C>T (p.Ala566=) c.1188C>T (p.Ala396=) c.1644C>T (n.1644C>T) c.3042C>T (p.Ala1014=) c.3024C>T (p.Ala1008=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50720878_50720893delinsCAAGGACCGGCGGCTG	CA2411007885	SHANK3	c.2646_2661delinsCAAGGACCGGCGGCTG (p.Ala882=) n.3230_3245delinsCAAGGACCGGCGGCTG c.1698_1713delinsCAAGGACCGGCGGCTG (p.Ala566=) c.1188_1203delinsCAAGGACCGGCGGCTG (p.Ala396=) c.1644_1659delinsCAAGGACCGGCGGCTG (n.1644_1659delinsCAAGGACCGGCGGCTG) c.3042_3057delinsCAAGGACCGGCGGCTG (p.Ala1014=) c.3024_3039delinsCAAGGACCGGCGGCTG (p.Ala1008=)
22	g.50720879A>C	CA515260554	SHANK3	c.2647A>C (p.Lys883Gln) n.3231A>C c.1699A>C (p.Lys567Gln) c.1189A>C (p.Lys397Gln) c.1645A>C (n.1645A>C) c.3043A>C (p.Lys1015Gln) c.3025A>C (p.Lys1009Gln)	gnomAD v4
22	g.50720879A>G	CA515260555	SHANK3	c.2647A>G (p.Lys883Glu) n.3231A>G c.1699A>G (p.Lys567Glu) c.1189A>G (p.Lys397Glu) c.1645A>G (n.1645A>G) c.3043A>G (p.Lys1015Glu) c.3025A>G (p.Lys1009Glu)	gnomAD v4
22	g.50720879A>T	CA515260556	SHANK3	c.2647A>T (p.Lys883Ter) n.3231A>T c.1699A>T (p.Lys567Ter) c.1189A>T (p.Lys397Ter) c.1645A>T (n.1645A>T) c.3043A>T (p.Lys1015Ter) c.3025A>T (p.Lys1009Ter)
22	g.50720879_50720893del	CA2411007886	SHANK3	c.2647_2661del (p.Lys883_Leu887del) n.3231_3245del c.1699_1713del (p.Lys567_Leu571del) c.1189_1203del (p.Lys397_Leu401del) c.1645_1659del (n.1645_1659del) c.3043_3057del (p.Lys1015_Leu1019del) c.3025_3039del (p.Lys1009_Leu1013del)	dbSNP gnomAD v4
22	g.50720880A>C	CA515260559	SHANK3	c.2648A>C (p.Lys883Thr) n.3232A>C c.1700A>C (p.Lys567Thr) c.1190A>C (p.Lys397Thr) c.1646A>C (n.1646A>C) c.3044A>C (p.Lys1015Thr) c.3026A>C (p.Lys1009Thr)	gnomAD v4
22	g.50720880A>G	CA515260558	SHANK3	c.2648A>G (p.Lys883Arg) n.3232A>G c.1700A>G (p.Lys567Arg) c.1190A>G (p.Lys397Arg) c.1646A>G (n.1646A>G) c.3044A>G (p.Lys1015Arg) c.3026A>G (p.Lys1009Arg)	gnomAD v4
22	g.50720880A>T	CA515260557	SHANK3	c.2648A>T (p.Lys883Met) n.3232A>T c.1700A>T (p.Lys567Met) c.1190A>T (p.Lys397Met) c.1646A>T (n.1646A>T) c.3044A>T (p.Lys1015Met) c.3026A>T (p.Lys1009Met)
22	g.50720881G>A	CA10325948	SHANK3	c.2649G>A (p.Lys883=) n.3233G>A c.1701G>A (p.Lys567=) c.1191G>A (p.Lys397=) c.1647G>A (n.1647G>A) c.3045G>A (p.Lys1015=) c.3027G>A (p.Lys1009=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50720881G>C	CA515260560	SHANK3	c.2649G>C (p.Lys883Asn) n.3233G>C c.1701G>C (p.Lys567Asn) c.1191G>C (p.Lys397Asn) c.1647G>C (n.1647G>C) c.3045G>C (p.Lys1015Asn) c.3027G>C (p.Lys1009Asn)
22	g.50720881G=	CA2411007887	SHANK3	c.2649G= (p.Lys883=) n.3233G= c.1701G= (p.Lys567=) c.1191G= (p.Lys397=) c.1647G= (n.1647G=) c.3045G= (p.Lys1015=) c.3027G= (p.Lys1009=)
22	g.50720881G>T	CA515260561	SHANK3	c.2649G>T (p.Lys883Asn) n.3233G>T c.1701G>T (p.Lys567Asn) c.1191G>T (p.Lys397Asn) c.1647G>T (n.1647G>T) c.3045G>T (p.Lys1015Asn) c.3027G>T (p.Lys1009Asn)	gnomAD v4
22	g.50720882G>A	CA515260562	SHANK3	c.2650G>A (p.Asp884Asn) n.3234G>A c.1702G>A (p.Asp568Asn) c.1192G>A (p.Asp398Asn) c.1648G>A (n.1648G>A) c.3046G>A (p.Asp1016Asn) c.3028G>A (p.Asp1010Asn)	gnomAD v4
22	g.50720882G>C	CA325578380	SHANK3	c.2650G>C (p.Asp884His) n.3234G>C c.1702G>C (p.Asp568His) c.1192G>C (p.Asp398His) c.1648G>C (n.1648G>C) c.3046G>C (p.Asp1016His) c.3028G>C (p.Asp1010His)	dbSNP
22	g.50720882G=	CA2411007888	SHANK3	c.2650G= (p.Asp884=) n.3234G= c.1702G= (p.Asp568=) c.1192G= (p.Asp398=) c.1648G= (n.1648G=) c.3046G= (p.Asp1016=) c.3028G= (p.Asp1010=)
22	g.50720882G>T	CA515260563	SHANK3	c.2650G>T (p.Asp884Tyr) n.3234G>T c.1702G>T (p.Asp568Tyr) c.1192G>T (p.Asp398Tyr) c.1648G>T (n.1648G>T) c.3046G>T (p.Asp1016Tyr) c.3028G>T (p.Asp1010Tyr)	gnomAD v4
22	g.50720883A>C	CA515260564	SHANK3	c.2651A>C (p.Asp884Ala) n.3235A>C c.1703A>C (p.Asp568Ala) c.1193A>C (p.Asp398Ala) c.1649A>C (n.1649A>C) c.3047A>C (p.Asp1016Ala) c.3029A>C (p.Asp1010Ala)	gnomAD v4
22	g.50720883A>G	CA515260565	SHANK3	c.2651A>G (p.Asp884Gly) n.3235A>G c.1703A>G (p.Asp568Gly) c.1193A>G (p.Asp398Gly) c.1649A>G (n.1649A>G) c.3047A>G (p.Asp1016Gly) c.3029A>G (p.Asp1010Gly)	gnomAD v4
22	g.50720883A>T	CA515260566	SHANK3	c.2651A>T (p.Asp884Val) n.3235A>T c.1703A>T (p.Asp568Val) c.1193A>T (p.Asp398Val) c.1649A>T (n.1649A>T) c.3047A>T (p.Asp1016Val) c.3029A>T (p.Asp1010Val)
22	g.50720884C>A	CA515260567	SHANK3	c.2652C>A (p.Asp884Glu) n.3236C>A c.1704C>A (p.Asp568Glu) c.1194C>A (p.Asp398Glu) c.1650C>A (n.1650C>A) c.3048C>A (p.Asp1016Glu) c.3030C>A (p.Asp1010Glu)	dbSNP gnomAD v3 gnomAD v4
22	g.50720884C=	CA2411007889	SHANK3	c.2652C= (p.Asp884=) n.3236C= c.1704C= (p.Asp568=) c.1194C= (p.Asp398=) c.1650C= (n.1650C=) c.3048C= (p.Asp1016=) c.3030C= (p.Asp1010=)
22	g.50720884C>G	CA515260568	SHANK3	c.2652C>G (p.Asp884Glu) n.3236C>G c.1704C>G (p.Asp568Glu) c.1194C>G (p.Asp398Glu) c.1650C>G (n.1650C>G) c.3048C>G (p.Asp1016Glu) c.3030C>G (p.Asp1010Glu)	gnomAD v4
22	g.50720884C>T	CA515260569	SHANK3	c.2652C>T (p.Asp884=) n.3236C>T c.1704C>T (p.Asp568=) c.1194C>T (p.Asp398=) c.1650C>T (n.1650C>T) c.3048C>T (p.Asp1016=) c.3030C>T (p.Asp1010=)	dbSNP gnomAD v4
22	g.50720885C>A	CA515260570	SHANK3	c.2653C>A (p.Arg885=) n.3237C>A c.1705C>A (p.Arg569=) c.1195C>A (p.Arg399=) c.1651C>A (n.1651C>A) c.3049C>A (p.Arg1017=) c.3031C>A (p.Arg1011=)	gnomAD v4
22	g.50720885C=	CA2411007890	SHANK3	c.2653C= (p.Arg885=) n.3237C= c.1705C= (p.Arg569=) c.1195C= (p.Arg399=) c.1651C= (n.1651C=) c.3049C= (p.Arg1017=) c.3031C= (p.Arg1011=)
22	g.50720885C>G	CA515260571	SHANK3	c.2653C>G (p.Arg885Gly) n.3237C>G c.1705C>G (p.Arg569Gly) c.1195C>G (p.Arg399Gly) c.1651C>G (n.1651C>G) c.3049C>G (p.Arg1017Gly) c.3031C>G (p.Arg1011Gly)	dbSNP
22	g.50720885C>T	CA515260572	SHANK3	c.2653C>T (p.Arg885Trp) n.3237C>T c.1705C>T (p.Arg569Trp) c.1195C>T (p.Arg399Trp) c.1651C>T (n.1651C>T) c.3049C>T (p.Arg1017Trp) c.3031C>T (p.Arg1011Trp)	ClinVar gnomAD v4
22	g.50720886G>A	CA515260575	SHANK3	c.2654G>A (p.Arg885Gln) n.3238G>A c.1706G>A (p.Arg569Gln) c.1196G>A (p.Arg399Gln) c.1652G>A (n.1652G>A) c.3050G>A (p.Arg1017Gln) c.3032G>A (p.Arg1011Gln)	dbSNP gnomAD v4
22	g.50720886G>C	CA515260573	SHANK3	c.2654G>C (p.Arg885Pro) n.3238G>C c.1706G>C (p.Arg569Pro) c.1196G>C (p.Arg399Pro) c.1652G>C (n.1652G>C) c.3050G>C (p.Arg1017Pro) c.3032G>C (p.Arg1011Pro)
22	g.50720886G=	CA2411007891	SHANK3	c.2654G= (p.Arg885=) n.3238G= c.1706G= (p.Arg569=) c.1196G= (p.Arg399=) c.1652G= (n.1652G=) c.3050G= (p.Arg1017=) c.3032G= (p.Arg1011=)
22	g.50720886G>T	CA515260574	SHANK3	c.2654G>T (p.Arg885Leu) n.3238G>T c.1706G>T (p.Arg569Leu) c.1196G>T (p.Arg399Leu) c.1652G>T (n.1652G>T) c.3050G>T (p.Arg1017Leu) c.3032G>T (p.Arg1011Leu)	gnomAD v4

Number of alleles fetched