Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50722176_50722177insAACACACCCAACACA	CA2819316445	SHANK3	c.3944_3945insAACACACCCAACACA (p.His1314_His1315insGlnThrHisProThr) n.4528_4529insAACACACCCAACACA c.2996_2997insAACACACCCAACACA (p.His998_His999insGlnThrHisProThr) c.2486_2487insAACACACCCAACACA (p.His828_His829insGlnThrHisProThr) c.2942_2943insAACACACCCAACACA (n.2942_2943insAACACACCCAACACA) c.4340_4341insAACACACCCAACACA (p.His1446_His1447insGlnThrHisProThr) c.4322_4323insAACACACCCAACACA (p.His1440_His1441insGlnThrHisProThr)
22	g.50722176A>C	CA515264663	SHANK3	c.3944A>C (p.His1315Pro) n.4528A>C c.2996A>C (p.His999Pro) c.2486A>C (p.His829Pro) c.2942A>C (n.2942A>C) c.4340A>C (p.His1447Pro) c.4322A>C (p.His1441Pro)
22	g.50722176A>G	CA515264664	SHANK3	c.3944A>G (p.His1315Arg) n.4528A>G c.2996A>G (p.His999Arg) c.2486A>G (p.His829Arg) c.2942A>G (n.2942A>G) c.4340A>G (p.His1447Arg) c.4322A>G (p.His1441Arg)
22	g.50722176A>T	CA515264665	SHANK3	c.3944A>T (p.His1315Leu) n.4528A>T c.2996A>T (p.His999Leu) c.2486A>T (p.His829Leu) c.2942A>T (n.2942A>T) c.4340A>T (p.His1447Leu) c.4322A>T (p.His1441Leu)
22	g.50722177C>A	CA515264667	SHANK3	c.3945C>A (p.His1315Gln) n.4529C>A c.2997C>A (p.His999Gln) c.2487C>A (p.His829Gln) c.2943C>A (n.2943C>A) c.4341C>A (p.His1447Gln) c.4323C>A (p.His1441Gln)
22	g.50722177C=	CA2411008660	SHANK3	c.3945C= (p.His1315=) n.4529C= c.2997C= (p.His999=) c.2487C= (p.His829=) c.2943C= (n.2943C=) c.4341C= (p.His1447=) c.4323C= (p.His1441=)
22	g.50722177C>G	CA515264669	SHANK3	c.3945C>G (p.His1315Gln) n.4529C>G c.2997C>G (p.His999Gln) c.2487C>G (p.His829Gln) c.2943C>G (n.2943C>G) c.4341C>G (p.His1447Gln) c.4323C>G (p.His1441Gln)
22	g.50722177C>T	CA10326260	SHANK3	c.3945C>T (p.His1315=) n.4529C>T c.2997C>T (p.His999=) c.2487C>T (p.His829=) c.2943C>T (n.2943C>T) c.4341C>T (p.His1447=) c.4323C>T (p.His1441=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722178G>A	CA10326261	SHANK3	c.3946G>A (p.Ala1316Thr) n.4530G>A c.2998G>A (p.Ala1000Thr) c.2488G>A (p.Ala830Thr) c.2944G>A (n.2944G>A) c.4342G>A (p.Ala1448Thr) c.4324G>A (p.Ala1442Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722178G>C	CA515264671	SHANK3	c.3946G>C (p.Ala1316Pro) n.4530G>C c.2998G>C (p.Ala1000Pro) c.2488G>C (p.Ala830Pro) c.2944G>C (n.2944G>C) c.4342G>C (p.Ala1448Pro) c.4324G>C (p.Ala1442Pro)
22	g.50722178G=	CA2411008661	SHANK3	c.3946G= (p.Ala1316=) n.4530G= c.2998G= (p.Ala1000=) c.2488G= (p.Ala830=) c.2944G= (n.2944G=) c.4342G= (p.Ala1448=) c.4324G= (p.Ala1442=)
22	g.50722178G>T	CA515264672	SHANK3	c.3946G>T (p.Ala1316Ser) n.4530G>T c.2998G>T (p.Ala1000Ser) c.2488G>T (p.Ala830Ser) c.2944G>T (n.2944G>T) c.4342G>T (p.Ala1448Ser) c.4324G>T (p.Ala1442Ser)	COSMIC COSMIC
22	g.50722179C>A	CA515264673	SHANK3	c.3947C>A (p.Ala1316Asp) n.4531C>A c.2999C>A (p.Ala1000Asp) c.2489C>A (p.Ala830Asp) c.2945C>A (n.2945C>A) c.4343C>A (p.Ala1448Asp) c.4325C>A (p.Ala1442Asp)
22	g.50722179C>G	CA515264674	SHANK3	c.3947C>G (p.Ala1316Gly) n.4531C>G c.2999C>G (p.Ala1000Gly) c.2489C>G (p.Ala830Gly) c.2945C>G (n.2945C>G) c.4343C>G (p.Ala1448Gly) c.4325C>G (p.Ala1442Gly)
22	g.50722179C>T	CA515264675	SHANK3	c.3947C>T (p.Ala1316Val) n.4531C>T c.2999C>T (p.Ala1000Val) c.2489C>T (p.Ala830Val) c.2945C>T (n.2945C>T) c.4343C>T (p.Ala1448Val) c.4325C>T (p.Ala1442Val)
22	g.50722179_50722180insACCCCAAA	CA2819316453	SHANK3	c.3947_3948insACCCCAAA (p.Ala1317ProfsTer?) n.4531_4532insACCCCAAA c.2999_3000insACCCCAAA (p.Ala1001ProfsTer?) c.2489_2490insACCCCAAA (p.Ala831ProfsTer?) c.2945_2946insACCCCAAA (n.2945_2946insACCCCAAA) c.4343_4344insACCCCAAA (p.Ala1449ProfsTer?) c.4325_4326insACCCCAAA (p.Ala1443ProfsTer?)
22	g.50722180C>A	CA515264680	SHANK3	c.3948C>A (p.Ala1316=) n.4532C>A c.3000C>A (p.Ala1000=) c.2490C>A (p.Ala830=) c.2946C>A (n.2946C>A) c.4344C>A (p.Ala1448=) c.4326C>A (p.Ala1442=)	gnomAD v4
22	g.50722180C=	CA2411008663	SHANK3	c.3948C= (p.Ala1316=) n.4532C= c.3000C= (p.Ala1000=) c.2490C= (p.Ala830=) c.2946C= (n.2946C=) c.4344C= (p.Ala1448=) c.4326C= (p.Ala1442=)
22	g.50722180C>G	CA515264676	SHANK3	c.3948C>G (p.Ala1316=) n.4532C>G c.3000C>G (p.Ala1000=) c.2490C>G (p.Ala830=) c.2946C>G (n.2946C>G) c.4344C>G (p.Ala1448=) c.4326C>G (p.Ala1442=)	gnomAD v4
22	g.50722180C>T	CA10326263	SHANK3	c.3948C>T (p.Ala1316=) n.4532C>T c.3000C>T (p.Ala1000=) c.2490C>T (p.Ala830=) c.2946C>T (n.2946C>T) c.4344C>T (p.Ala1448=) c.4326C>T (p.Ala1442=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722180_50722195delinsCGCCTCTGCCGGGCTG	CA2411008662	SHANK3	c.3948_3963delinsCGCCTCTGCCGGGCTG (p.Ala1316=) n.4532_4547delinsCGCCTCTGCCGGGCTG c.3000_3015delinsCGCCTCTGCCGGGCTG (p.Ala1000=) c.2490_2505delinsCGCCTCTGCCGGGCTG (p.Ala830=) c.2946_2961delinsCGCCTCTGCCGGGCTG (n.2946_2961delinsCGCCTCTGCCGGGCTG) c.4344_4359delinsCGCCTCTGCCGGGCTG (p.Ala1448=) c.4326_4341delinsCGCCTCTGCCGGGCTG (p.Ala1442=)
22	g.50722181G>A	CA10326264	SHANK3	c.3949G>A (p.Ala1317Thr) n.4533G>A c.3001G>A (p.Ala1001Thr) c.2491G>A (p.Ala831Thr) c.2947G>A (n.2947G>A) c.4345G>A (p.Ala1449Thr) c.4327G>A (p.Ala1443Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722181G>C	CA515264681	SHANK3	c.3949G>C (p.Ala1317Pro) n.4533G>C c.3001G>C (p.Ala1001Pro) c.2491G>C (p.Ala831Pro) c.2947G>C (n.2947G>C) c.4345G>C (p.Ala1449Pro) c.4327G>C (p.Ala1443Pro)	gnomAD v4
22	g.50722181G=	CA2411008665	SHANK3	c.3949G= (p.Ala1317=) n.4533G= c.3001G= (p.Ala1001=) c.2491G= (p.Ala831=) c.2947G= (n.2947G=) c.4345G= (p.Ala1449=) c.4327G= (p.Ala1443=)
22	g.50722181G>T	CA515264682	SHANK3	c.3949G>T (p.Ala1317Ser) n.4533G>T c.3001G>T (p.Ala1001Ser) c.2491G>T (p.Ala831Ser) c.2947G>T (n.2947G>T) c.4345G>T (p.Ala1449Ser) c.4327G>T (p.Ala1443Ser)	dbSNP gnomAD v3 gnomAD v4
22	g.50722191_50722205dup	CA2411008664	SHANK3	c.3959_3973dup (p.Ala1324_Ala1325insGlyLeuAlaSerAla) n.4543_4557dup c.3011_3025dup (p.Ala1008_Ala1009insGlyLeuAlaSerAla) c.2501_2515dup (p.Ala838_Ala839insGlyLeuAlaSerAla) c.2957_2971dup (n.2957_2971dup) c.4355_4369dup (p.Ala1456_Ala1457insGlyLeuAlaSerAla) c.4337_4351dup (p.Ala1450_Ala1451insGlyLeuAlaSerAla)	dbSNP gnomAD v4
22	g.50722191_50722205del	CA10326262	SHANK3	c.3959_3973del (p.Gly1320_Ala1324del) n.4543_4557del c.3011_3025del (p.Gly1004_Ala1008del) c.2501_2515del (p.Gly834_Ala838del) c.2957_2971del (n.2957_2971del) c.4355_4369del (p.Gly1452_Ala1456del) c.4337_4351del (p.Gly1446_Ala1450del)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722182C>A	CA515264683	SHANK3	c.3950C>A (p.Ala1317Asp) n.4534C>A c.3002C>A (p.Ala1001Asp) c.2492C>A (p.Ala831Asp) c.2948C>A (n.2948C>A) c.4346C>A (p.Ala1449Asp) c.4328C>A (p.Ala1443Asp)
22	g.50722182C>G	CA515264686	SHANK3	c.3950C>G (p.Ala1317Gly) n.4534C>G c.3002C>G (p.Ala1001Gly) c.2492C>G (p.Ala831Gly) c.2948C>G (n.2948C>G) c.4346C>G (p.Ala1449Gly) c.4328C>G (p.Ala1443Gly)
22	g.50722182C>T	CA515264685	SHANK3	c.3950C>T (p.Ala1317Val) n.4534C>T c.3002C>T (p.Ala1001Val) c.2492C>T (p.Ala831Val) c.2948C>T (n.2948C>T) c.4346C>T (p.Ala1449Val) c.4328C>T (p.Ala1443Val)
22	g.50722183C>A	CA515264688	SHANK3	c.3951C>A (p.Ala1317=) n.4535C>A c.3003C>A (p.Ala1001=) c.2493C>A (p.Ala831=) c.2949C>A (n.2949C>A) c.4347C>A (p.Ala1449=) c.4329C>A (p.Ala1443=)
22	g.50722183C=	CA2411008666	SHANK3	c.3951C= (p.Ala1317=) n.4535C= c.3003C= (p.Ala1001=) c.2493C= (p.Ala831=) c.2949C= (n.2949C=) c.4347C= (p.Ala1449=) c.4329C= (p.Ala1443=)
22	g.50722183C>G	CA515264689	SHANK3	c.3951C>G (p.Ala1317=) n.4535C>G c.3003C>G (p.Ala1001=) c.2493C>G (p.Ala831=) c.2949C>G (n.2949C>G) c.4347C>G (p.Ala1449=) c.4329C>G (p.Ala1443=)
22	g.50722183C>T	CA10326265	SHANK3	c.3951C>T (p.Ala1317=) n.4535C>T c.3003C>T (p.Ala1001=) c.2493C>T (p.Ala831=) c.2949C>T (n.2949C>T) c.4347C>T (p.Ala1449=) c.4329C>T (p.Ala1443=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722184T>A	CA515264690	SHANK3	c.3952T>A (p.Ser1318Thr) n.4536T>A c.3004T>A (p.Ser1002Thr) c.2494T>A (p.Ser832Thr) c.2950T>A (n.2950T>A) c.4348T>A (p.Ser1450Thr) c.4330T>A (p.Ser1444Thr)	dbSNP
22	g.50722184T>C	CA515264691	SHANK3	c.3952T>C (p.Ser1318Pro) n.4536T>C c.3004T>C (p.Ser1002Pro) c.2494T>C (p.Ser832Pro) c.2950T>C (n.2950T>C) c.4348T>C (p.Ser1450Pro) c.4330T>C (p.Ser1444Pro)	gnomAD v4
22	g.50722184T>G	CA515264692	SHANK3	c.3952T>G (p.Ser1318Ala) n.4536T>G c.3004T>G (p.Ser1002Ala) c.2494T>G (p.Ser832Ala) c.2950T>G (n.2950T>G) c.4348T>G (p.Ser1450Ala) c.4330T>G (p.Ser1444Ala)
22	g.50722184T=	CA2411008667	SHANK3	c.3952T= (p.Ser1318=) n.4536T= c.3004T= (p.Ser1002=) c.2494T= (p.Ser832=) c.2950T= (n.2950T=) c.4348T= (p.Ser1450=) c.4330T= (p.Ser1444=)
22	g.50722185C>A	CA515264693	SHANK3	c.3953C>A (p.Ser1318Tyr) n.4537C>A c.3005C>A (p.Ser1002Tyr) c.2495C>A (p.Ser832Tyr) c.2951C>A (n.2951C>A) c.4349C>A (p.Ser1450Tyr) c.4331C>A (p.Ser1444Tyr)
22	g.50722185C>G	CA515264694	SHANK3	c.3953C>G (p.Ser1318Cys) n.4537C>G c.3005C>G (p.Ser1002Cys) c.2495C>G (p.Ser832Cys) c.2951C>G (n.2951C>G) c.4349C>G (p.Ser1450Cys) c.4331C>G (p.Ser1444Cys)
22	g.50722185C>T	CA515264695	SHANK3	c.3953C>T (p.Ser1318Phe) n.4537C>T c.3005C>T (p.Ser1002Phe) c.2495C>T (p.Ser832Phe) c.2951C>T (n.2951C>T) c.4349C>T (p.Ser1450Phe) c.4331C>T (p.Ser1444Phe)
22	g.50722186T>A	CA515264696	SHANK3	c.3954T>A (p.Ser1318=) n.4538T>A c.3006T>A (p.Ser1002=) c.2496T>A (p.Ser832=) c.2952T>A (n.2952T>A) c.4350T>A (p.Ser1450=) c.4332T>A (p.Ser1444=)
22	g.50722186T>C	CA515264697	SHANK3	c.3954T>C (p.Ser1318=) n.4538T>C c.3006T>C (p.Ser1002=) c.2496T>C (p.Ser832=) c.2952T>C (n.2952T>C) c.4350T>C (p.Ser1450=) c.4332T>C (p.Ser1444=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722186T>G	CA515264698	SHANK3	c.3954T>G (p.Ser1318=) n.4538T>G c.3006T>G (p.Ser1002=) c.2496T>G (p.Ser832=) c.2952T>G (n.2952T>G) c.4350T>G (p.Ser1450=) c.4332T>G (p.Ser1444=)
22	g.50722186T=	CA2411008668	SHANK3	c.3954T= (p.Ser1318=) n.4538T= c.3006T= (p.Ser1002=) c.2496T= (p.Ser832=) c.2952T= (n.2952T=) c.4350T= (p.Ser1450=) c.4332T= (p.Ser1444=)
22	g.50722187G>A	CA515264699	SHANK3	c.3955G>A (p.Ala1319Thr) n.4539G>A c.3007G>A (p.Ala1003Thr) c.2497G>A (p.Ala833Thr) c.2953G>A (n.2953G>A) c.4351G>A (p.Ala1451Thr) c.4333G>A (p.Ala1445Thr)
22	g.50722187G>C	CA515264701	SHANK3	c.3955G>C (p.Ala1319Pro) n.4539G>C c.3007G>C (p.Ala1003Pro) c.2497G>C (p.Ala833Pro) c.2953G>C (n.2953G>C) c.4351G>C (p.Ala1451Pro) c.4333G>C (p.Ala1445Pro)	gnomAD v4
22	g.50722187G>T	CA515264700	SHANK3	c.3955G>T (p.Ala1319Ser) n.4539G>T c.3007G>T (p.Ala1003Ser) c.2497G>T (p.Ala833Ser) c.2953G>T (n.2953G>T) c.4351G>T (p.Ala1451Ser) c.4333G>T (p.Ala1445Ser)
22	g.50722194_50722211dup	CA1026672769	SHANK3	c.3962_3979dup (p.Gly1326_Pro1327insLeuAlaSerAlaAlaGly) n.4546_4563dup c.3014_3031dup (p.Gly1010_Pro1011insLeuAlaSerAlaAlaGly) c.2504_2521dup (p.Gly840_Pro841insLeuAlaSerAlaAlaGly) c.2960_2977dup (n.2960_2977dup) c.4358_4375dup (p.Gly1458_Pro1459insLeuAlaSerAlaAlaGly) c.4340_4357dup (p.Gly1452_Pro1453insLeuAlaSerAlaAlaGly)	dbSNP gnomAD v3 gnomAD v4
22	g.50722188C>A	CA515264702	SHANK3	c.3956C>A (p.Ala1319Asp) n.4540C>A c.3008C>A (p.Ala1003Asp) c.2498C>A (p.Ala833Asp) c.2954C>A (n.2954C>A) c.4352C>A (p.Ala1451Asp) c.4334C>A (p.Ala1445Asp)
22	g.50722188C=	CA2411008669	SHANK3	c.3956C= (p.Ala1319=) n.4540C= c.3008C= (p.Ala1003=) c.2498C= (p.Ala833=) c.2954C= (n.2954C=) c.4352C= (p.Ala1451=) c.4334C= (p.Ala1445=)
22	g.50722188C>G	CA515264703	SHANK3	c.3956C>G (p.Ala1319Gly) n.4540C>G c.3008C>G (p.Ala1003Gly) c.2498C>G (p.Ala833Gly) c.2954C>G (n.2954C>G) c.4352C>G (p.Ala1451Gly) c.4334C>G (p.Ala1445Gly)	gnomAD v4
22	g.50722188C>T	CA515264704	SHANK3	c.3956C>T (p.Ala1319Val) n.4540C>T c.3008C>T (p.Ala1003Val) c.2498C>T (p.Ala833Val) c.2954C>T (n.2954C>T) c.4352C>T (p.Ala1451Val) c.4334C>T (p.Ala1445Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50722189C>A	CA515264705	SHANK3	c.3957C>A (p.Ala1319=) n.4541C>A c.3009C>A (p.Ala1003=) c.2499C>A (p.Ala833=) c.2955C>A (n.2955C>A) c.4353C>A (p.Ala1451=) c.4335C>A (p.Ala1445=)
22	g.50722189C=	CA2411008670	SHANK3	c.3957C= (p.Ala1319=) n.4541C= c.3009C= (p.Ala1003=) c.2499C= (p.Ala833=) c.2955C= (n.2955C=) c.4353C= (p.Ala1451=) c.4335C= (p.Ala1445=)
22	g.50722189C>G	CA515264706	SHANK3	c.3957C>G (p.Ala1319=) n.4541C>G c.3009C>G (p.Ala1003=) c.2499C>G (p.Ala833=) c.2955C>G (n.2955C>G) c.4353C>G (p.Ala1451=) c.4335C>G (p.Ala1445=)
22	g.50722189C>T	CA10326266	SHANK3	c.3957C>T (p.Ala1319=) n.4541C>T c.3009C>T (p.Ala1003=) c.2499C>T (p.Ala833=) c.2955C>T (n.2955C>T) c.4353C>T (p.Ala1451=) c.4335C>T (p.Ala1445=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50722190G>A	CA10326267	SHANK3	c.3958G>A (p.Gly1320Arg) n.4542G>A c.3010G>A (p.Gly1004Arg) c.2500G>A (p.Gly834Arg) c.2956G>A (n.2956G>A) c.4354G>A (p.Gly1452Arg) c.4336G>A (p.Gly1446Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722190G>C	CA515264708	SHANK3	c.3958G>C (p.Gly1320Arg) n.4542G>C c.3010G>C (p.Gly1004Arg) c.2500G>C (p.Gly834Arg) c.2956G>C (n.2956G>C) c.4354G>C (p.Gly1452Arg) c.4336G>C (p.Gly1446Arg)
22	g.50722190G=	CA2411008671	SHANK3	c.3958G= (p.Gly1320=) n.4542G= c.3010G= (p.Gly1004=) c.2500G= (p.Gly834=) c.2956G= (n.2956G=) c.4354G= (p.Gly1452=) c.4336G= (p.Gly1446=)
22	g.50722190G>T	CA515264709	SHANK3	c.3958G>T (p.Gly1320Trp) n.4542G>T c.3010G>T (p.Gly1004Trp) c.2500G>T (p.Gly834Trp) c.2956G>T (n.2956G>T) c.4354G>T (p.Gly1452Trp) c.4336G>T (p.Gly1446Trp)
22	g.50722191G>A	CA515264710	SHANK3	c.3959G>A (p.Gly1320Glu) n.4543G>A c.3011G>A (p.Gly1004Glu) c.2501G>A (p.Gly834Glu) c.2957G>A (n.2957G>A) c.4355G>A (p.Gly1452Glu) c.4337G>A (p.Gly1446Glu)	gnomAD v4
22	g.50722191G>C	CA515264711	SHANK3	c.3959G>C (p.Gly1320Ala) n.4543G>C c.3011G>C (p.Gly1004Ala) c.2501G>C (p.Gly834Ala) c.2957G>C (n.2957G>C) c.4355G>C (p.Gly1452Ala) c.4337G>C (p.Gly1446Ala)
22	g.50722191G>T	CA515264712	SHANK3	c.3959G>T (p.Gly1320Val) n.4543G>T c.3011G>T (p.Gly1004Val) c.2501G>T (p.Gly834Val) c.2957G>T (n.2957G>T) c.4355G>T (p.Gly1452Val) c.4337G>T (p.Gly1446Val)
22	g.50722192G>A	CA515264715	SHANK3	c.3960G>A (p.Gly1320=) n.4544G>A c.3012G>A (p.Gly1004=) c.2502G>A (p.Gly834=) c.2958G>A (n.2958G>A) c.4356G>A (p.Gly1452=) c.4338G>A (p.Gly1446=)	dbSNP
22	g.50722192G>C	CA515264713	SHANK3	c.3960G>C (p.Gly1320=) n.4544G>C c.3012G>C (p.Gly1004=) c.2502G>C (p.Gly834=) c.2958G>C (n.2958G>C) c.4356G>C (p.Gly1452=) c.4338G>C (p.Gly1446=)	gnomAD v4
22	g.50722192G=	CA2411008672	SHANK3	c.3960G= (p.Gly1320=) n.4544G= c.3012G= (p.Gly1004=) c.2502G= (p.Gly834=) c.2958G= (n.2958G=) c.4356G= (p.Gly1452=) c.4338G= (p.Gly1446=)
22	g.50722192G>T	CA515264714	SHANK3	c.3960G>T (p.Gly1320=) n.4544G>T c.3012G>T (p.Gly1004=) c.2502G>T (p.Gly834=) c.2958G>T (n.2958G>T) c.4356G>T (p.Gly1452=) c.4338G>T (p.Gly1446=)
22	g.50722193C>A	CA515264716	SHANK3	c.3961C>A (p.Leu1321Met) n.4545C>A c.3013C>A (p.Leu1005Met) c.2503C>A (p.Leu835Met) c.2959C>A (n.2959C>A) c.4357C>A (p.Leu1453Met) c.4339C>A (p.Leu1447Met)
22	g.50722193C=	CA2411008673	SHANK3	c.3961C= (p.Leu1321=) n.4545C= c.3013C= (p.Leu1005=) c.2503C= (p.Leu835=) c.2959C= (n.2959C=) c.4357C= (p.Leu1453=) c.4339C= (p.Leu1447=)
22	g.50722193C>G	CA515264717	SHANK3	c.3961C>G (p.Leu1321Val) n.4545C>G c.3013C>G (p.Leu1005Val) c.2503C>G (p.Leu835Val) c.2959C>G (n.2959C>G) c.4357C>G (p.Leu1453Val) c.4339C>G (p.Leu1447Val)
22	g.50722193C>T	CA515264719	SHANK3	c.3961C>T (p.Leu1321=) n.4545C>T c.3013C>T (p.Leu1005=) c.2503C>T (p.Leu835=) c.2959C>T (n.2959C>T) c.4357C>T (p.Leu1453=) c.4339C>T (p.Leu1447=)	dbSNP gnomAD v2
22	g.50722194T>A	CA515264720	SHANK3	c.3962T>A (p.Leu1321Gln) n.4546T>A c.3014T>A (p.Leu1005Gln) c.2504T>A (p.Leu835Gln) c.2960T>A (n.2960T>A) c.4358T>A (p.Leu1453Gln) c.4340T>A (p.Leu1447Gln)
22	g.50722194T>C	CA515264722	SHANK3	c.3962T>C (p.Leu1321Pro) n.4546T>C c.3014T>C (p.Leu1005Pro) c.2504T>C (p.Leu835Pro) c.2960T>C (n.2960T>C) c.4358T>C (p.Leu1453Pro) c.4340T>C (p.Leu1447Pro)	dbSNP gnomAD v2 gnomAD v4
22	g.50722194T>G	CA515264723	SHANK3	c.3962T>G (p.Leu1321Arg) n.4546T>G c.3014T>G (p.Leu1005Arg) c.2504T>G (p.Leu835Arg) c.2960T>G (n.2960T>G) c.4358T>G (p.Leu1453Arg) c.4340T>G (p.Leu1447Arg)
22	g.50722194T=	CA2411008674	SHANK3	c.3962T= (p.Leu1321=) n.4546T= c.3014T= (p.Leu1005=) c.2504T= (p.Leu835=) c.2960T= (n.2960T=) c.4358T= (p.Leu1453=) c.4340T= (p.Leu1447=)
22	g.50722195G>A	CA515264724	SHANK3	c.3963G>A (p.Leu1321=) n.4547G>A c.3015G>A (p.Leu1005=) c.2505G>A (p.Leu835=) c.2961G>A (n.2961G>A) c.4359G>A (p.Leu1453=) c.4341G>A (p.Leu1447=)
22	g.50722195G>C	CA515264725	SHANK3	c.3963G>C (p.Leu1321=) n.4547G>C c.3015G>C (p.Leu1005=) c.2505G>C (p.Leu835=) c.2961G>C (n.2961G>C) c.4359G>C (p.Leu1453=) c.4341G>C (p.Leu1447=)
22	g.50722195G>T	CA515264726	SHANK3	c.3963G>T (p.Leu1321=) n.4547G>T c.3015G>T (p.Leu1005=) c.2505G>T (p.Leu835=) c.2961G>T (n.2961G>T) c.4359G>T (p.Leu1453=) c.4341G>T (p.Leu1447=)
22	g.50722196G>A	CA515264727	SHANK3	c.3964G>A (p.Ala1322Thr) n.4548G>A c.3016G>A (p.Ala1006Thr) c.2506G>A (p.Ala836Thr) c.2962G>A (n.2962G>A) c.4360G>A (p.Ala1454Thr) c.4342G>A (p.Ala1448Thr)
22	g.50722196G>C	CA515264728	SHANK3	c.3964G>C (p.Ala1322Pro) n.4548G>C c.3016G>C (p.Ala1006Pro) c.2506G>C (p.Ala836Pro) c.2962G>C (n.2962G>C) c.4360G>C (p.Ala1454Pro) c.4342G>C (p.Ala1448Pro)
22	g.50722196G>T	CA515264729	SHANK3	c.3964G>T (p.Ala1322Ser) n.4548G>T c.3016G>T (p.Ala1006Ser) c.2506G>T (p.Ala836Ser) c.2962G>T (n.2962G>T) c.4360G>T (p.Ala1454Ser) c.4342G>T (p.Ala1448Ser)
22	g.50722197C>A	CA515264731	SHANK3	c.3965C>A (p.Ala1322Asp) n.4549C>A c.3017C>A (p.Ala1006Asp) c.2507C>A (p.Ala836Asp) c.2963C>A (n.2963C>A) c.4361C>A (p.Ala1454Asp) c.4343C>A (p.Ala1448Asp)	dbSNP
22	g.50722197C=	CA2411008675	SHANK3	c.3965C= (p.Ala1322=) n.4549C= c.3017C= (p.Ala1006=) c.2507C= (p.Ala836=) c.2963C= (n.2963C=) c.4361C= (p.Ala1454=) c.4343C= (p.Ala1448=)
22	g.50722197C>G	CA515264733	SHANK3	c.3965C>G (p.Ala1322Gly) n.4549C>G c.3017C>G (p.Ala1006Gly) c.2507C>G (p.Ala836Gly) c.2963C>G (n.2963C>G) c.4361C>G (p.Ala1454Gly) c.4343C>G (p.Ala1448Gly)
22	g.50722197C>T	CA10326268	SHANK3	c.3965C>T (p.Ala1322Val) n.4549C>T c.3017C>T (p.Ala1006Val) c.2507C>T (p.Ala836Val) c.2963C>T (n.2963C>T) c.4361C>T (p.Ala1454Val) c.4343C>T (p.Ala1448Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722198C>A	CA515264735	SHANK3	c.3966C>A (p.Ala1322=) n.4550C>A c.3018C>A (p.Ala1006=) c.2508C>A (p.Ala836=) c.2964C>A (n.2964C>A) c.4362C>A (p.Ala1454=) c.4344C>A (p.Ala1448=)
22	g.50722198C=	CA2411008676	SHANK3	c.3966C= (p.Ala1322=) n.4550C= c.3018C= (p.Ala1006=) c.2508C= (p.Ala836=) c.2964C= (n.2964C=) c.4362C= (p.Ala1454=) c.4344C= (p.Ala1448=)
22	g.50722198C>G	CA515264734	SHANK3	c.3966C>G (p.Ala1322=) n.4550C>G c.3018C>G (p.Ala1006=) c.2508C>G (p.Ala836=) c.2964C>G (n.2964C>G) c.4362C>G (p.Ala1454=) c.4344C>G (p.Ala1448=)
22	g.50722198C>T	CA515264736	SHANK3	c.3966C>T (p.Ala1322=) n.4550C>T c.3018C>T (p.Ala1006=) c.2508C>T (p.Ala836=) c.2964C>T (n.2964C>T) c.4362C>T (p.Ala1454=) c.4344C>T (p.Ala1448=)	dbSNP gnomAD v2 gnomAD v4
22	g.50722199T>A	CA515264737	SHANK3	c.3967T>A (p.Ser1323Thr) n.4551T>A c.3019T>A (p.Ser1007Thr) c.2509T>A (p.Ser837Thr) c.2965T>A (n.2965T>A) c.4363T>A (p.Ser1455Thr) c.4345T>A (p.Ser1449Thr)
22	g.50722199T>C	CA515264738	SHANK3	c.3967T>C (p.Ser1323Pro) n.4551T>C c.3019T>C (p.Ser1007Pro) c.2509T>C (p.Ser837Pro) c.2965T>C (n.2965T>C) c.4363T>C (p.Ser1455Pro) c.4345T>C (p.Ser1449Pro)
22	g.50722199T>G	CA515264739	SHANK3	c.3967T>G (p.Ser1323Ala) n.4551T>G c.3019T>G (p.Ser1007Ala) c.2509T>G (p.Ser837Ala) c.2965T>G (n.2965T>G) c.4363T>G (p.Ser1455Ala) c.4345T>G (p.Ser1449Ala)
22	g.50722200C>A	CA515264740	SHANK3	c.3968C>A (p.Ser1323Tyr) n.4552C>A c.3020C>A (p.Ser1007Tyr) c.2510C>A (p.Ser837Tyr) c.2966C>A (n.2966C>A) c.4364C>A (p.Ser1455Tyr) c.4346C>A (p.Ser1449Tyr)
22	g.50722200C=	CA2411008677	SHANK3	c.3968C= (p.Ser1323=) n.4552C= c.3020C= (p.Ser1007=) c.2510C= (p.Ser837=) c.2966C= (n.2966C=) c.4364C= (p.Ser1455=) c.4346C= (p.Ser1449=)
22	g.50722200C>G	CA515264741	SHANK3	c.3968C>G (p.Ser1323Cys) n.4552C>G c.3020C>G (p.Ser1007Cys) c.2510C>G (p.Ser837Cys) c.2966C>G (n.2966C>G) c.4364C>G (p.Ser1455Cys) c.4346C>G (p.Ser1449Cys)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50722200C>T	CA515264742	SHANK3	c.3968C>T (p.Ser1323Phe) n.4552C>T c.3020C>T (p.Ser1007Phe) c.2510C>T (p.Ser837Phe) c.2966C>T (n.2966C>T) c.4364C>T (p.Ser1455Phe) c.4346C>T (p.Ser1449Phe)	gnomAD v4
22	g.50722201T>A	CA515264743	SHANK3	c.3969T>A (p.Ser1323=) n.4553T>A c.3021T>A (p.Ser1007=) c.2511T>A (p.Ser837=) c.2967T>A (n.2967T>A) c.4365T>A (p.Ser1455=) c.4347T>A (p.Ser1449=)
22	g.50722201T>C	CA515264744	SHANK3	c.3969T>C (p.Ser1323=) n.4553T>C c.3021T>C (p.Ser1007=) c.2511T>C (p.Ser837=) c.2967T>C (n.2967T>C) c.4365T>C (p.Ser1455=) c.4347T>C (p.Ser1449=)
22	g.50722201T>G	CA515264746	SHANK3	c.3969T>G (p.Ser1323=) n.4553T>G c.3021T>G (p.Ser1007=) c.2511T>G (p.Ser837=) c.2967T>G (n.2967T>G) c.4365T>G (p.Ser1455=) c.4347T>G (p.Ser1449=)
22	g.50722202G>A	CA515264748	SHANK3	c.3970G>A (p.Ala1324Thr) n.4554G>A c.3022G>A (p.Ala1008Thr) c.2512G>A (p.Ala838Thr) c.2968G>A (n.2968G>A) c.4366G>A (p.Ala1456Thr) c.4348G>A (p.Ala1450Thr)
22	g.50722202G>C	CA515264749	SHANK3	c.3970G>C (p.Ala1324Pro) n.4554G>C c.3022G>C (p.Ala1008Pro) c.2512G>C (p.Ala838Pro) c.2968G>C (n.2968G>C) c.4366G>C (p.Ala1456Pro) c.4348G>C (p.Ala1450Pro)
22	g.50722202G>T	CA515264750	SHANK3	c.3970G>T (p.Ala1324Ser) n.4554G>T c.3022G>T (p.Ala1008Ser) c.2512G>T (p.Ala838Ser) c.2968G>T (n.2968G>T) c.4366G>T (p.Ala1456Ser) c.4348G>T (p.Ala1450Ser)
22	g.50722203C>A	CA515264754	SHANK3	c.3971C>A (p.Ala1324Asp) n.4555C>A c.3023C>A (p.Ala1008Asp) c.2513C>A (p.Ala838Asp) c.2969C>A (n.2969C>A) c.4367C>A (p.Ala1456Asp) c.4349C>A (p.Ala1450Asp)
22	g.50722203C=	CA2411008678	SHANK3	c.3971C= (p.Ala1324=) n.4555C= c.3023C= (p.Ala1008=) c.2513C= (p.Ala838=) c.2969C= (n.2969C=) c.4367C= (p.Ala1456=) c.4349C= (p.Ala1450=)
22	g.50722203C>G	CA515264752	SHANK3	c.3971C>G (p.Ala1324Gly) n.4555C>G c.3023C>G (p.Ala1008Gly) c.2513C>G (p.Ala838Gly) c.2969C>G (n.2969C>G) c.4367C>G (p.Ala1456Gly) c.4349C>G (p.Ala1450Gly)
22	g.50722203C>T	CA515264751	SHANK3	c.3971C>T (p.Ala1324Val) n.4555C>T c.3023C>T (p.Ala1008Val) c.2513C>T (p.Ala838Val) c.2969C>T (n.2969C>T) c.4367C>T (p.Ala1456Val) c.4349C>T (p.Ala1450Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50722204C>A	CA515264755	SHANK3	c.3972C>A (p.Ala1324=) n.4556C>A c.3024C>A (p.Ala1008=) c.2514C>A (p.Ala838=) c.2970C>A (n.2970C>A) c.4368C>A (p.Ala1456=) c.4350C>A (p.Ala1450=)
22	g.50722204C=	CA2411008679	SHANK3	c.3972C= (p.Ala1324=) n.4556C= c.3024C= (p.Ala1008=) c.2514C= (p.Ala838=) c.2970C= (n.2970C=) c.4368C= (p.Ala1456=) c.4350C= (p.Ala1450=)
22	g.50722204C>G	CA515264756	SHANK3	c.3972C>G (p.Ala1324=) n.4556C>G c.3024C>G (p.Ala1008=) c.2514C>G (p.Ala838=) c.2970C>G (n.2970C>G) c.4368C>G (p.Ala1456=) c.4350C>G (p.Ala1450=)
22	g.50722204C>T	CA10326269	SHANK3	c.3972C>T (p.Ala1324=) n.4556C>T c.3024C>T (p.Ala1008=) c.2514C>T (p.Ala838=) c.2970C>T (n.2970C>T) c.4368C>T (p.Ala1456=) c.4350C>T (p.Ala1450=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50722205G>A	CA10326270	SHANK3	c.3973G>A (p.Ala1325Thr) n.4557G>A c.3025G>A (p.Ala1009Thr) c.2515G>A (p.Ala839Thr) c.2971G>A (n.2971G>A) c.4369G>A (p.Ala1457Thr) c.4351G>A (p.Ala1451Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722205G>C	CA515264757	SHANK3	c.3973G>C (p.Ala1325Pro) n.4557G>C c.3025G>C (p.Ala1009Pro) c.2515G>C (p.Ala839Pro) c.2971G>C (n.2971G>C) c.4369G>C (p.Ala1457Pro) c.4351G>C (p.Ala1451Pro)
22	g.50722205G=	CA2411008680	SHANK3	c.3973G= (p.Ala1325=) n.4557G= c.3025G= (p.Ala1009=) c.2515G= (p.Ala839=) c.2971G= (n.2971G=) c.4369G= (p.Ala1457=) c.4351G= (p.Ala1451=)
22	g.50722205G>T	CA515264758	SHANK3	c.3973G>T (p.Ala1325Ser) n.4557G>T c.3025G>T (p.Ala1009Ser) c.2515G>T (p.Ala839Ser) c.2971G>T (n.2971G>T) c.4369G>T (p.Ala1457Ser) c.4351G>T (p.Ala1451Ser)	gnomAD v4
22	g.50722206C>A	CA515264759	SHANK3	c.3974C>A (p.Ala1325Asp) n.4558C>A c.3026C>A (p.Ala1009Asp) c.2516C>A (p.Ala839Asp) c.2972C>A (n.2972C>A) c.4370C>A (p.Ala1457Asp) c.4352C>A (p.Ala1451Asp)
22	g.50722206C>G	CA515264760	SHANK3	c.3974C>G (p.Ala1325Gly) n.4558C>G c.3026C>G (p.Ala1009Gly) c.2516C>G (p.Ala839Gly) c.2972C>G (n.2972C>G) c.4370C>G (p.Ala1457Gly) c.4352C>G (p.Ala1451Gly)
22	g.50722206C>T	CA515264761	SHANK3	c.3974C>T (p.Ala1325Val) n.4558C>T c.3026C>T (p.Ala1009Val) c.2516C>T (p.Ala839Val) c.2972C>T (n.2972C>T) c.4370C>T (p.Ala1457Val) c.4352C>T (p.Ala1451Val)	gnomAD v4
22	g.50722207C>A	CA515264763	SHANK3	c.3975C>A (p.Ala1325=) n.4559C>A c.3027C>A (p.Ala1009=) c.2517C>A (p.Ala839=) c.2973C>A (n.2973C>A) c.4371C>A (p.Ala1457=) c.4353C>A (p.Ala1451=)
22	g.50722207C=	CA2411008681	SHANK3	c.3975C= (p.Ala1325=) n.4559C= c.3027C= (p.Ala1009=) c.2517C= (p.Ala839=) c.2973C= (n.2973C=) c.4371C= (p.Ala1457=) c.4353C= (p.Ala1451=)
22	g.50722207C>G	CA515264765	SHANK3	c.3975C>G (p.Ala1325=) n.4559C>G c.3027C>G (p.Ala1009=) c.2517C>G (p.Ala839=) c.2973C>G (n.2973C>G) c.4371C>G (p.Ala1457=) c.4353C>G (p.Ala1451=)	dbSNP gnomAD v2 gnomAD v4
22	g.50722207C>T	CA10326271	SHANK3	c.3975C>T (p.Ala1325=) n.4559C>T c.3027C>T (p.Ala1009=) c.2517C>T (p.Ala839=) c.2973C>T (n.2973C>T) c.4371C>T (p.Ala1457=) c.4353C>T (p.Ala1451=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722208G>A	CA515264769	SHANK3	c.3976G>A (p.Gly1326Arg) n.4560G>A c.3028G>A (p.Gly1010Arg) c.2518G>A (p.Gly840Arg) c.2974G>A (n.2974G>A) c.4372G>A (p.Gly1458Arg) c.4354G>A (p.Gly1452Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50722208G>C	CA515264768	SHANK3	c.3976G>C (p.Gly1326Arg) n.4560G>C c.3028G>C (p.Gly1010Arg) c.2518G>C (p.Gly840Arg) c.2974G>C (n.2974G>C) c.4372G>C (p.Gly1458Arg) c.4354G>C (p.Gly1452Arg)	gnomAD v4
22	g.50722208G=	CA2411008682	SHANK3	c.3976G= (p.Gly1326=) n.4560G= c.3028G= (p.Gly1010=) c.2518G= (p.Gly840=) c.2974G= (n.2974G=) c.4372G= (p.Gly1458=) c.4354G= (p.Gly1452=)
22	g.50722208G>T	CA515264767	SHANK3	c.3976G>T (p.Gly1326Trp) n.4560G>T c.3028G>T (p.Gly1010Trp) c.2518G>T (p.Gly840Trp) c.2974G>T (n.2974G>T) c.4372G>T (p.Gly1458Trp) c.4354G>T (p.Gly1452Trp)	gnomAD v4
22	g.50722209G>A	CA515264770	SHANK3	c.3977G>A (p.Gly1326Glu) n.4561G>A c.3029G>A (p.Gly1010Glu) c.2519G>A (p.Gly840Glu) c.2975G>A (n.2975G>A) c.4373G>A (p.Gly1458Glu) c.4355G>A (p.Gly1452Glu)
22	g.50722209G>C	CA515264771	SHANK3	c.3977G>C (p.Gly1326Ala) n.4561G>C c.3029G>C (p.Gly1010Ala) c.2519G>C (p.Gly840Ala) c.2975G>C (n.2975G>C) c.4373G>C (p.Gly1458Ala) c.4355G>C (p.Gly1452Ala)
22	g.50722209G>T	CA515264772	SHANK3	c.3977G>T (p.Gly1326Val) n.4561G>T c.3029G>T (p.Gly1010Val) c.2519G>T (p.Gly840Val) c.2975G>T (n.2975G>T) c.4373G>T (p.Gly1458Val) c.4355G>T (p.Gly1452Val)
22	g.50722210G>A	CA515264773	SHANK3	c.3978G>A (p.Gly1326=) n.4562G>A c.3030G>A (p.Gly1010=) c.2520G>A (p.Gly840=) c.2976G>A (n.2976G>A) c.4374G>A (p.Gly1458=) c.4356G>A (p.Gly1452=)	dbSNP gnomAD v2 gnomAD v4
22	g.50722210G>C	CA515264774	SHANK3	c.3978G>C (p.Gly1326=) n.4562G>C c.3030G>C (p.Gly1010=) c.2520G>C (p.Gly840=) c.2976G>C (n.2976G>C) c.4374G>C (p.Gly1458=) c.4356G>C (p.Gly1452=)
22	g.50722210G=	CA2411008683	SHANK3	c.3978G= (p.Gly1326=) n.4562G= c.3030G= (p.Gly1010=) c.2520G= (p.Gly840=) c.2976G= (n.2976G=) c.4374G= (p.Gly1458=) c.4356G= (p.Gly1452=)
22	g.50722210G>T	CA515264775	SHANK3	c.3978G>T (p.Gly1326=) n.4562G>T c.3030G>T (p.Gly1010=) c.2520G>T (p.Gly840=) c.2976G>T (n.2976G>T) c.4374G>T (p.Gly1458=) c.4356G>T (p.Gly1452=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722211C>A	CA515264777	SHANK3	c.3979C>A (p.Pro1327Thr) n.4563C>A c.3031C>A (p.Pro1011Thr) c.2521C>A (p.Pro841Thr) c.2977C>A (n.2977C>A) c.4375C>A (p.Pro1459Thr) c.4357C>A (p.Pro1453Thr)	gnomAD v4
22	g.50722211C=	CA2411008684	SHANK3	c.3979C= (p.Pro1327=) n.4563C= c.3031C= (p.Pro1011=) c.2521C= (p.Pro841=) c.2977C= (n.2977C=) c.4375C= (p.Pro1459=) c.4357C= (p.Pro1453=)
22	g.50722211C>G	CA515264778	SHANK3	c.3979C>G (p.Pro1327Ala) n.4563C>G c.3031C>G (p.Pro1011Ala) c.2521C>G (p.Pro841Ala) c.2977C>G (n.2977C>G) c.4375C>G (p.Pro1459Ala) c.4357C>G (p.Pro1453Ala)
22	g.50722211C>T	CA515264779	SHANK3	c.3979C>T (p.Pro1327Ser) n.4563C>T c.3031C>T (p.Pro1011Ser) c.2521C>T (p.Pro841Ser) c.2977C>T (n.2977C>T) c.4375C>T (p.Pro1459Ser) c.4357C>T (p.Pro1453Ser)	dbSNP gnomAD v4
22	g.50722212C>A	CA515264780	SHANK3	c.3980C>A (p.Pro1327His) n.4564C>A c.3032C>A (p.Pro1011His) c.2522C>A (p.Pro841His) c.2978C>A (n.2978C>A) c.4376C>A (p.Pro1459His) c.4358C>A (p.Pro1453His)
22	g.50722212C=	CA2411008685	SHANK3	c.3980C= (p.Pro1327=) n.4564C= c.3032C= (p.Pro1011=) c.2522C= (p.Pro841=) c.2978C= (n.2978C=) c.4376C= (p.Pro1459=) c.4358C= (p.Pro1453=)
22	g.50722212C>G	CA515264781	SHANK3	c.3980C>G (p.Pro1327Arg) n.4564C>G c.3032C>G (p.Pro1011Arg) c.2522C>G (p.Pro841Arg) c.2978C>G (n.2978C>G) c.4376C>G (p.Pro1459Arg) c.4358C>G (p.Pro1453Arg)	gnomAD v4
22	g.50722212C>T	CA515264782	SHANK3	c.3980C>T (p.Pro1327Leu) n.4564C>T c.3032C>T (p.Pro1011Leu) c.2522C>T (p.Pro841Leu) c.2978C>T (n.2978C>T) c.4376C>T (p.Pro1459Leu) c.4358C>T (p.Pro1453Leu)	dbSNP
22	g.50722213T>A	CA515264785	SHANK3	c.3981T>A (p.Pro1327=) n.4565T>A c.3033T>A (p.Pro1011=) c.2523T>A (p.Pro841=) c.2979T>A (n.2979T>A) c.4377T>A (p.Pro1459=) c.4359T>A (p.Pro1453=)
22	g.50722213T>C	CA515264784	SHANK3	c.3981T>C (p.Pro1327=) n.4565T>C c.3033T>C (p.Pro1011=) c.2523T>C (p.Pro841=) c.2979T>C (n.2979T>C) c.4377T>C (p.Pro1459=) c.4359T>C (p.Pro1453=)
22	g.50722213T>G	CA515264783	SHANK3	c.3981T>G (p.Pro1327=) n.4565T>G c.3033T>G (p.Pro1011=) c.2523T>G (p.Pro841=) c.2979T>G (n.2979T>G) c.4377T>G (p.Pro1459=) c.4359T>G (p.Pro1453=)
22	g.50722214G>A	CA515264787	SHANK3	c.3982G>A (p.Ala1328Thr) n.4566G>A c.3034G>A (p.Ala1012Thr) c.2524G>A (p.Ala842Thr) c.2980G>A (n.2980G>A) c.4378G>A (p.Ala1460Thr) c.4360G>A (p.Ala1454Thr)
22	g.50722214G>C	CA515264789	SHANK3	c.3982G>C (p.Ala1328Pro) n.4566G>C c.3034G>C (p.Ala1012Pro) c.2524G>C (p.Ala842Pro) c.2980G>C (n.2980G>C) c.4378G>C (p.Ala1460Pro) c.4360G>C (p.Ala1454Pro)
22	g.50722214G=	CA2411008686	SHANK3	c.3982G= (p.Ala1328=) n.4566G= c.3034G= (p.Ala1012=) c.2524G= (p.Ala842=) c.2980G= (n.2980G=) c.4378G= (p.Ala1460=) c.4360G= (p.Ala1454=)
22	g.50722214G>T	CA10326272	SHANK3	c.3982G>T (p.Ala1328Ser) n.4566G>T c.3034G>T (p.Ala1012Ser) c.2524G>T (p.Ala842Ser) c.2980G>T (n.2980G>T) c.4378G>T (p.Ala1460Ser) c.4360G>T (p.Ala1454Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722215C>A	CA515264791	SHANK3	c.3983C>A (p.Ala1328Asp) n.4567C>A c.3035C>A (p.Ala1012Asp) c.2525C>A (p.Ala842Asp) c.2981C>A (n.2981C>A) c.4379C>A (p.Ala1460Asp) c.4361C>A (p.Ala1454Asp)
22	g.50722215C>G	CA515264792	SHANK3	c.3983C>G (p.Ala1328Gly) n.4567C>G c.3035C>G (p.Ala1012Gly) c.2525C>G (p.Ala842Gly) c.2981C>G (n.2981C>G) c.4379C>G (p.Ala1460Gly) c.4361C>G (p.Ala1454Gly)
22	g.50722215C>T	CA515264793	SHANK3	c.3983C>T (p.Ala1328Val) n.4567C>T c.3035C>T (p.Ala1012Val) c.2525C>T (p.Ala842Val) c.2981C>T (n.2981C>T) c.4379C>T (p.Ala1460Val) c.4361C>T (p.Ala1454Val)	gnomAD v4
22	g.50722216C>A	CA515264794	SHANK3	c.3984C>A (p.Ala1328=) n.4568C>A c.3036C>A (p.Ala1012=) c.2526C>A (p.Ala842=) c.2982C>A (n.2982C>A) c.4380C>A (p.Ala1460=) c.4362C>A (p.Ala1454=)
22	g.50722216C=	CA2411008687	SHANK3	c.3984C= (p.Ala1328=) n.4568C= c.3036C= (p.Ala1012=) c.2526C= (p.Ala842=) c.2982C= (n.2982C=) c.4380C= (p.Ala1460=) c.4362C= (p.Ala1454=)
22	g.50722216C>G	CA515264795	SHANK3	c.3984C>G (p.Ala1328=) n.4568C>G c.3036C>G (p.Ala1012=) c.2526C>G (p.Ala842=) c.2982C>G (n.2982C>G) c.4380C>G (p.Ala1460=) c.4362C>G (p.Ala1454=)	dbSNP gnomAD v2 gnomAD v4
22	g.50722216C>T	CA515264796	SHANK3	c.3984C>T (p.Ala1328=) n.4568C>T c.3036C>T (p.Ala1012=) c.2526C>T (p.Ala842=) c.2982C>T (n.2982C>T) c.4380C>T (p.Ala1460=) c.4362C>T (p.Ala1454=)
22	g.50722217C>A	CA515264798	SHANK3	c.3985C>A (p.Arg1329Ser) n.4569C>A c.3037C>A (p.Arg1013Ser) c.2527C>A (p.Arg843Ser) c.2983C>A (n.2983C>A) c.4381C>A (p.Arg1461Ser) c.4363C>A (p.Arg1455Ser)	dbSNP COSMIC
22	g.50722217C=	CA2411008688	SHANK3	c.3985C= (p.Arg1329=) n.4569C= c.3037C= (p.Arg1013=) c.2527C= (p.Arg843=) c.2983C= (n.2983C=) c.4381C= (p.Arg1461=) c.4363C= (p.Arg1455=)
22	g.50722217C>G	CA515264800	SHANK3	c.3985C>G (p.Arg1329Gly) n.4569C>G c.3037C>G (p.Arg1013Gly) c.2527C>G (p.Arg843Gly) c.2983C>G (n.2983C>G) c.4381C>G (p.Arg1461Gly) c.4363C>G (p.Arg1455Gly)
22	g.50722217C>T	CA10326273	SHANK3	c.3985C>T (p.Arg1329Cys) n.4569C>T c.3037C>T (p.Arg1013Cys) c.2527C>T (p.Arg843Cys) c.2983C>T (n.2983C>T) c.4381C>T (p.Arg1461Cys) c.4363C>T (p.Arg1455Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722218G>A	CA10326274	SHANK3	c.3986G>A (p.Arg1329His) n.4570G>A c.3038G>A (p.Arg1013His) c.2528G>A (p.Arg843His) c.2984G>A (n.2984G>A) c.4382G>A (p.Arg1461His) c.4364G>A (p.Arg1455His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22	g.50722218G>C	CA515264802	SHANK3	c.3986G>C (p.Arg1329Pro) n.4570G>C c.3038G>C (p.Arg1013Pro) c.2528G>C (p.Arg843Pro) c.2984G>C (n.2984G>C) c.4382G>C (p.Arg1461Pro) c.4364G>C (p.Arg1455Pro)	gnomAD v4
22	g.50722218G=	CA2411008689	SHANK3	c.3986G= (p.Arg1329=) n.4570G= c.3038G= (p.Arg1013=) c.2528G= (p.Arg843=) c.2984G= (n.2984G=) c.4382G= (p.Arg1461=) c.4364G= (p.Arg1455=)
22	g.50722218G>T	CA515264801	SHANK3	c.3986G>T (p.Arg1329Leu) n.4570G>T c.3038G>T (p.Arg1013Leu) c.2528G>T (p.Arg843Leu) c.2984G>T (n.2984G>T) c.4382G>T (p.Arg1461Leu) c.4364G>T (p.Arg1455Leu)
22	g.50722219C>A	CA515264803	SHANK3	c.3987C>A (p.Arg1329=) n.4571C>A c.3039C>A (p.Arg1013=) c.2529C>A (p.Arg843=) c.2985C>A (n.2985C>A) c.4383C>A (p.Arg1461=) c.4365C>A (p.Arg1455=)
22	g.50722219C=	CA2411008690	SHANK3	c.3987C= (p.Arg1329=) n.4571C= c.3039C= (p.Arg1013=) c.2529C= (p.Arg843=) c.2985C= (n.2985C=) c.4383C= (p.Arg1461=) c.4365C= (p.Arg1455=)
22	g.50722219C>G	CA515264805	SHANK3	c.3987C>G (p.Arg1329=) n.4571C>G c.3039C>G (p.Arg1013=) c.2529C>G (p.Arg843=) c.2985C>G (n.2985C>G) c.4383C>G (p.Arg1461=) c.4365C>G (p.Arg1455=)
22	g.50722219C>T	CA10326275	SHANK3	c.3987C>T (p.Arg1329=) n.4571C>T c.3039C>T (p.Arg1013=) c.2529C>T (p.Arg843=) c.2985C>T (n.2985C>T) c.4383C>T (p.Arg1461=) c.4365C>T (p.Arg1455=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722221dup	CA2582342889	SHANK3	c.3989dup (p.Arg1331SerfsTer24) n.4573dup c.3041dup (p.Arg1015SerfsTer24) c.2531dup (p.Arg845SerfsTer24) c.2987dup (n.2987dup) c.4385dup (p.Arg1463SerfsTer24) c.4367dup (p.Arg1457SerfsTer24)	ClinVar
22	g.50722220C>A	CA515264806	SHANK3	c.3988C>A (p.Pro1330Thr) n.4572C>A c.3040C>A (p.Pro1014Thr) c.2530C>A (p.Pro844Thr) c.2986C>A (n.2986C>A) c.4384C>A (p.Pro1462Thr) c.4366C>A (p.Pro1456Thr)	dbSNP gnomAD v2
22	g.50722220C=	CA2411008691	SHANK3	c.3988C= (p.Pro1330=) n.4572C= c.3040C= (p.Pro1014=) c.2530C= (p.Pro844=) c.2986C= (n.2986C=) c.4384C= (p.Pro1462=) c.4366C= (p.Pro1456=)
22	g.50722220C>G	CA515264807	SHANK3	c.3988C>G (p.Pro1330Ala) n.4572C>G c.3040C>G (p.Pro1014Ala) c.2530C>G (p.Pro844Ala) c.2986C>G (n.2986C>G) c.4384C>G (p.Pro1462Ala) c.4366C>G (p.Pro1456Ala)
22	g.50722220C>T	CA10326276	SHANK3	c.3988C>T (p.Pro1330Ser) n.4572C>T c.3040C>T (p.Pro1014Ser) c.2530C>T (p.Pro844Ser) c.2986C>T (n.2986C>T) c.4384C>T (p.Pro1462Ser) c.4366C>T (p.Pro1456Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722221C>A	CA515264811	SHANK3	c.3989C>A (p.Pro1330His) n.4573C>A c.3041C>A (p.Pro1014His) c.2531C>A (p.Pro844His) c.2987C>A (n.2987C>A) c.4385C>A (p.Pro1462His) c.4367C>A (p.Pro1456His)
22	g.50722221C>G	CA515264810	SHANK3	c.3989C>G (p.Pro1330Arg) n.4573C>G c.3041C>G (p.Pro1014Arg) c.2531C>G (p.Pro844Arg) c.2987C>G (n.2987C>G) c.4385C>G (p.Pro1462Arg) c.4367C>G (p.Pro1456Arg)
22	g.50722221C>T	CA515264809	SHANK3	c.3989C>T (p.Pro1330Leu) n.4573C>T c.3041C>T (p.Pro1014Leu) c.2531C>T (p.Pro844Leu) c.2987C>T (n.2987C>T) c.4385C>T (p.Pro1462Leu) c.4367C>T (p.Pro1456Leu)	COSMIC COSMIC
22	g.50722222T>A	CA515264812	SHANK3	c.3990T>A (p.Pro1330=) n.4574T>A c.3042T>A (p.Pro1014=) c.2532T>A (p.Pro844=) c.2988T>A (n.2988T>A) c.4386T>A (p.Pro1462=) c.4368T>A (p.Pro1456=)
22	g.50722222T>C	CA515264813	SHANK3	c.3990T>C (p.Pro1330=) n.4574T>C c.3042T>C (p.Pro1014=) c.2532T>C (p.Pro844=) c.2988T>C (n.2988T>C) c.4386T>C (p.Pro1462=) c.4368T>C (p.Pro1456=)
22	g.50722222T>G	CA515264814	SHANK3	c.3990T>G (p.Pro1330=) n.4574T>G c.3042T>G (p.Pro1014=) c.2532T>G (p.Pro844=) c.2988T>G (n.2988T>G) c.4386T>G (p.Pro1462=) c.4368T>G (p.Pro1456=)
22	g.50722223C>A	CA515264815	SHANK3	c.3991C>A (p.Arg1331Ser) n.4575C>A c.3043C>A (p.Arg1015Ser) c.2533C>A (p.Arg845Ser) c.2989C>A (n.2989C>A) c.4387C>A (p.Arg1463Ser) c.4369C>A (p.Arg1457Ser)	dbSNP
22	g.50722223C=	CA2411008692	SHANK3	c.3991C= (p.Arg1331=) n.4575C= c.3043C= (p.Arg1015=) c.2533C= (p.Arg845=) c.2989C= (n.2989C=) c.4387C= (p.Arg1463=) c.4369C= (p.Arg1457=)
22	g.50722223C>G	CA515264816	SHANK3	c.3991C>G (p.Arg1331Gly) n.4575C>G c.3043C>G (p.Arg1015Gly) c.2533C>G (p.Arg845Gly) c.2989C>G (n.2989C>G) c.4387C>G (p.Arg1463Gly) c.4369C>G (p.Arg1457Gly)	dbSNP
22	g.50722223C>T	CA515264817	SHANK3	c.3991C>T (p.Arg1331Cys) n.4575C>T c.3043C>T (p.Arg1015Cys) c.2533C>T (p.Arg845Cys) c.2989C>T (n.2989C>T) c.4387C>T (p.Arg1463Cys) c.4369C>T (p.Arg1457Cys)	dbSNP gnomAD v4
22	g.50722224G>A	CA515264818	SHANK3	c.3992G>A (p.Arg1331His) n.4576G>A c.3044G>A (p.Arg1015His) c.2534G>A (p.Arg845His) c.2990G>A (n.2990G>A) c.4388G>A (p.Arg1463His) c.4370G>A (p.Arg1457His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722224G>C	CA515264820	SHANK3	c.3992G>C (p.Arg1331Pro) n.4576G>C c.3044G>C (p.Arg1015Pro) c.2534G>C (p.Arg845Pro) c.2990G>C (n.2990G>C) c.4388G>C (p.Arg1463Pro) c.4370G>C (p.Arg1457Pro)
22	g.50722224G=	CA2411008693	SHANK3	c.3992G= (p.Arg1331=) n.4576G= c.3044G= (p.Arg1015=) c.2534G= (p.Arg845=) c.2990G= (n.2990G=) c.4388G= (p.Arg1463=) c.4370G= (p.Arg1457=)
22	g.50722224G>T	CA515264819	SHANK3	c.3992G>T (p.Arg1331Leu) n.4576G>T c.3044G>T (p.Arg1015Leu) c.2534G>T (p.Arg845Leu) c.2990G>T (n.2990G>T) c.4388G>T (p.Arg1463Leu) c.4370G>T (p.Arg1457Leu)
22	g.50722225C>A	CA515264821	SHANK3	c.3993C>A (p.Arg1331=) n.4577C>A c.3045C>A (p.Arg1015=) c.2535C>A (p.Arg845=) c.2991C>A (n.2991C>A) c.4389C>A (p.Arg1463=) c.4371C>A (p.Arg1457=)
22	g.50722225C>G	CA515264822	SHANK3	c.3993C>G (p.Arg1331=) n.4577C>G c.3045C>G (p.Arg1015=) c.2535C>G (p.Arg845=) c.2991C>G (n.2991C>G) c.4389C>G (p.Arg1463=) c.4371C>G (p.Arg1457=)
22	g.50722225C>T	CA515264823	SHANK3	c.3993C>T (p.Arg1331=) n.4577C>T c.3045C>T (p.Arg1015=) c.2535C>T (p.Arg845=) c.2991C>T (n.2991C>T) c.4389C>T (p.Arg1463=) c.4371C>T (p.Arg1457=)	gnomAD v4
22	g.50722226T>A	CA515264824	SHANK3	c.3994T>A (p.Tyr1332Asn) n.4578T>A c.3046T>A (p.Tyr1016Asn) c.2536T>A (p.Tyr846Asn) c.2992T>A (n.2992T>A) c.4390T>A (p.Tyr1464Asn) c.4372T>A (p.Tyr1458Asn)
22	g.50722226T>C	CA515264825	SHANK3	c.3994T>C (p.Tyr1332His) n.4578T>C c.3046T>C (p.Tyr1016His) c.2536T>C (p.Tyr846His) c.2992T>C (n.2992T>C) c.4390T>C (p.Tyr1464His) c.4372T>C (p.Tyr1458His)	gnomAD v4
22	g.50722226T>G	CA515264826	SHANK3	c.3994T>G (p.Tyr1332Asp) n.4578T>G c.3046T>G (p.Tyr1016Asp) c.2536T>G (p.Tyr846Asp) c.2992T>G (n.2992T>G) c.4390T>G (p.Tyr1464Asp) c.4372T>G (p.Tyr1458Asp)
22	g.50722227A=	CA2411008694	SHANK3	c.3995A= (p.Tyr1332=) n.4579A= c.3047A= (p.Tyr1016=) c.2537A= (p.Tyr846=) c.2993A= (n.2993A=) c.4391A= (p.Tyr1464=) c.4373A= (p.Tyr1458=)
22	g.50722227A>C	CA515264827	SHANK3	c.3995A>C (p.Tyr1332Ser) n.4579A>C c.3047A>C (p.Tyr1016Ser) c.2537A>C (p.Tyr846Ser) c.2993A>C (n.2993A>C) c.4391A>C (p.Tyr1464Ser) c.4373A>C (p.Tyr1458Ser)
22	g.50722227A>G	CA515264828	SHANK3	c.3995A>G (p.Tyr1332Cys) n.4579A>G c.3047A>G (p.Tyr1016Cys) c.2537A>G (p.Tyr846Cys) c.2993A>G (n.2993A>G) c.4391A>G (p.Tyr1464Cys) c.4373A>G (p.Tyr1458Cys)
22	g.50722227A>T	CA515264829	SHANK3	c.3995A>T (p.Tyr1332Phe) n.4579A>T c.3047A>T (p.Tyr1016Phe) c.2537A>T (p.Tyr846Phe) c.2993A>T (n.2993A>T) c.4391A>T (p.Tyr1464Phe) c.4373A>T (p.Tyr1458Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.50722228C>A	CA515264830	SHANK3	c.3996C>A (p.Tyr1332Ter) n.4580C>A c.3048C>A (p.Tyr1016Ter) c.2538C>A (p.Tyr846Ter) c.2994C>A (n.2994C>A) c.4392C>A (p.Tyr1464Ter) c.4374C>A (p.Tyr1458Ter)
22	g.50722228C>G	CA515264831	SHANK3	c.3996C>G (p.Tyr1332Ter) n.4580C>G c.3048C>G (p.Tyr1016Ter) c.2538C>G (p.Tyr846Ter) c.2994C>G (n.2994C>G) c.4392C>G (p.Tyr1464Ter) c.4374C>G (p.Tyr1458Ter)
22	g.50722228C>T	CA515264832	SHANK3	c.3996C>T (p.Tyr1332=) n.4580C>T c.3048C>T (p.Tyr1016=) c.2538C>T (p.Tyr846=) c.2994C>T (n.2994C>T) c.4392C>T (p.Tyr1464=) c.4374C>T (p.Tyr1458=)
22	g.50722229C>A	CA515264834	SHANK3	c.3997C>A (p.Leu1333Ile) n.4581C>A c.3049C>A (p.Leu1017Ile) c.2539C>A (p.Leu847Ile) c.2995C>A (n.2995C>A) c.4393C>A (p.Leu1465Ile) c.4375C>A (p.Leu1459Ile)
22	g.50722229C>G	CA515264836	SHANK3	c.3997C>G (p.Leu1333Val) n.4581C>G c.3049C>G (p.Leu1017Val) c.2539C>G (p.Leu847Val) c.2995C>G (n.2995C>G) c.4393C>G (p.Leu1465Val) c.4375C>G (p.Leu1459Val)
22	g.50722229C>T	CA515264835	SHANK3	c.3997C>T (p.Leu1333Phe) n.4581C>T c.3049C>T (p.Leu1017Phe) c.2539C>T (p.Leu847Phe) c.2995C>T (n.2995C>T) c.4393C>T (p.Leu1465Phe) c.4375C>T (p.Leu1459Phe)	gnomAD v4
22	g.50722230T>A	CA515264837	SHANK3	c.3998T>A (p.Leu1333His) n.4582T>A c.3050T>A (p.Leu1017His) c.2540T>A (p.Leu847His) c.2996T>A (n.2996T>A) c.4394T>A (p.Leu1465His) c.4376T>A (p.Leu1459His)
22	g.50722230T>C	CA515264838	SHANK3	c.3998T>C (p.Leu1333Pro) n.4582T>C c.3050T>C (p.Leu1017Pro) c.2540T>C (p.Leu847Pro) c.2996T>C (n.2996T>C) c.4394T>C (p.Leu1465Pro) c.4376T>C (p.Leu1459Pro)
22	g.50722230T>G	CA515264839	SHANK3	c.3998T>G (p.Leu1333Arg) n.4582T>G c.3050T>G (p.Leu1017Arg) c.2540T>G (p.Leu847Arg) c.2996T>G (n.2996T>G) c.4394T>G (p.Leu1465Arg) c.4376T>G (p.Leu1459Arg)
22	g.50722231C>A	CA515264840	SHANK3	c.3999C>A (p.Leu1333=) n.4583C>A c.3051C>A (p.Leu1017=) c.2541C>A (p.Leu847=) c.2997C>A (n.2997C>A) c.4395C>A (p.Leu1465=) c.4377C>A (p.Leu1459=)
22	g.50722231C=	CA2411008695	SHANK3	c.3999C= (p.Leu1333=) n.4583C= c.3051C= (p.Leu1017=) c.2541C= (p.Leu847=) c.2997C= (n.2997C=) c.4395C= (p.Leu1465=) c.4377C= (p.Leu1459=)
22	g.50722231C>G	CA515264841	SHANK3	c.3999C>G (p.Leu1333=) n.4583C>G c.3051C>G (p.Leu1017=) c.2541C>G (p.Leu847=) c.2997C>G (n.2997C>G) c.4395C>G (p.Leu1465=) c.4377C>G (p.Leu1459=)	dbSNP
22	g.50722231C>T	CA10326277	SHANK3	c.3999C>T (p.Leu1333=) n.4583C>T c.3051C>T (p.Leu1017=) c.2541C>T (p.Leu847=) c.2997C>T (n.2997C>T) c.4395C>T (p.Leu1465=) c.4377C>T (p.Leu1459=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722232T>A	CA515264842	SHANK3	c.4000T>A (p.Phe1334Ile) n.4584T>A c.3052T>A (p.Phe1018Ile) c.2542T>A (p.Phe848Ile) c.2998T>A (n.2998T>A) c.4396T>A (p.Phe1466Ile) c.4378T>A (p.Phe1460Ile)
22	g.50722232T>C	CA515264844	SHANK3	c.4000T>C (p.Phe1334Leu) n.4584T>C c.3052T>C (p.Phe1018Leu) c.2542T>C (p.Phe848Leu) c.2998T>C (n.2998T>C) c.4396T>C (p.Phe1466Leu) c.4378T>C (p.Phe1460Leu)
22	g.50722232T>G	CA515264845	SHANK3	c.4000T>G (p.Phe1334Val) n.4584T>G c.3052T>G (p.Phe1018Val) c.2542T>G (p.Phe848Val) c.2998T>G (n.2998T>G) c.4396T>G (p.Phe1466Val) c.4378T>G (p.Phe1460Val)
22	g.50722233T>A	CA515264846	SHANK3	c.4001T>A (p.Phe1334Tyr) n.4585T>A c.3053T>A (p.Phe1018Tyr) c.2543T>A (p.Phe848Tyr) c.2999T>A (n.2999T>A) c.4397T>A (p.Phe1466Tyr) c.4379T>A (p.Phe1460Tyr)
22	g.50722233T>C	CA515264847	SHANK3	c.4001T>C (p.Phe1334Ser) n.4585T>C c.3053T>C (p.Phe1018Ser) c.2543T>C (p.Phe848Ser) c.2999T>C (n.2999T>C) c.4397T>C (p.Phe1466Ser) c.4379T>C (p.Phe1460Ser)
22	g.50722233T>G	CA515264848	SHANK3	c.4001T>G (p.Phe1334Cys) n.4585T>G c.3053T>G (p.Phe1018Cys) c.2543T>G (p.Phe848Cys) c.2999T>G (n.2999T>G) c.4397T>G (p.Phe1466Cys) c.4379T>G (p.Phe1460Cys)
22	g.50722234C>A	CA515264851	SHANK3	c.4002C>A (p.Phe1334Leu) n.4586C>A c.3054C>A (p.Phe1018Leu) c.2544C>A (p.Phe848Leu) c.3000C>A (n.3000C>A) c.4398C>A (p.Phe1466Leu) c.4380C>A (p.Phe1460Leu)
22	g.50722234C>G	CA515264850	SHANK3	c.4002C>G (p.Phe1334Leu) n.4586C>G c.3054C>G (p.Phe1018Leu) c.2544C>G (p.Phe848Leu) c.3000C>G (n.3000C>G) c.4398C>G (p.Phe1466Leu) c.4380C>G (p.Phe1460Leu)
22	g.50722234C>T	CA515264849	SHANK3	c.4002C>T (p.Phe1334=) n.4586C>T c.3054C>T (p.Phe1018=) c.2544C>T (p.Phe848=) c.3000C>T (n.3000C>T) c.4398C>T (p.Phe1466=) c.4380C>T (p.Phe1460=)
22	g.50722235C>A	CA515264852	SHANK3	c.4003C>A (p.Gln1335Lys) n.4587C>A c.3055C>A (p.Gln1019Lys) c.2545C>A (p.Gln849Lys) c.3001C>A (n.3001C>A) c.4399C>A (p.Gln1467Lys) c.4381C>A (p.Gln1461Lys)
22	g.50722235C=	CA2411008696	SHANK3	c.4003C= (p.Gln1335=) n.4587C= c.3055C= (p.Gln1019=) c.2545C= (p.Gln849=) c.3001C= (n.3001C=) c.4399C= (p.Gln1467=) c.4381C= (p.Gln1461=)
22	g.50722235C>G	CA515264853	SHANK3	c.4003C>G (p.Gln1335Glu) n.4587C>G c.3055C>G (p.Gln1019Glu) c.2545C>G (p.Gln849Glu) c.3001C>G (n.3001C>G) c.4399C>G (p.Gln1467Glu) c.4381C>G (p.Gln1461Glu)
22	g.50722235C>T	CA16621142	SHANK3	c.4003C>T (p.Gln1335Ter) n.4587C>T c.3055C>T (p.Gln1019Ter) c.2545C>T (p.Gln849Ter) c.3001C>T (n.3001C>T) c.4399C>T (p.Gln1467Ter) c.4381C>T (p.Gln1461Ter)	ClinVar dbSNP
22	g.50722236A>C	CA515264855	SHANK3	c.4004A>C (p.Gln1335Pro) n.4588A>C c.3056A>C (p.Gln1019Pro) c.2546A>C (p.Gln849Pro) c.3002A>C (n.3002A>C) c.4400A>C (p.Gln1467Pro) c.4382A>C (p.Gln1461Pro)
22	g.50722236A>G	CA515264856	SHANK3	c.4004A>G (p.Gln1335Arg) n.4588A>G c.3056A>G (p.Gln1019Arg) c.2546A>G (p.Gln849Arg) c.3002A>G (n.3002A>G) c.4400A>G (p.Gln1467Arg) c.4382A>G (p.Gln1461Arg)	gnomAD v4
22	g.50722236A>T	CA515264857	SHANK3	c.4004A>T (p.Gln1335Leu) n.4588A>T c.3056A>T (p.Gln1019Leu) c.2546A>T (p.Gln849Leu) c.3002A>T (n.3002A>T) c.4400A>T (p.Gln1467Leu) c.4382A>T (p.Gln1461Leu)
22	g.50722237G>A	CA515264858	SHANK3	c.4005G>A (p.Gln1335=) n.4589G>A c.3057G>A (p.Gln1019=) c.2547G>A (p.Gln849=) c.3003G>A (n.3003G>A) c.4401G>A (p.Gln1467=) c.4383G>A (p.Gln1461=)
22	g.50722237G>C	CA515264859	SHANK3	c.4005G>C (p.Gln1335His) n.4589G>C c.3057G>C (p.Gln1019His) c.2547G>C (p.Gln849His) c.3003G>C (n.3003G>C) c.4401G>C (p.Gln1467His) c.4383G>C (p.Gln1461His)
22	g.50722237G>T	CA515264860	SHANK3	c.4005G>T (p.Gln1335His) n.4589G>T c.3057G>T (p.Gln1019His) c.2547G>T (p.Gln849His) c.3003G>T (n.3003G>T) c.4401G>T (p.Gln1467His) c.4383G>T (p.Gln1461His)
22	g.50722238A>C	CA515264861	SHANK3	c.4006A>C (p.Arg1336=) n.4590A>C c.3058A>C (p.Arg1020=) c.2548A>C (p.Arg850=) c.3004A>C (n.3004A>C) c.4402A>C (p.Arg1468=) c.4384A>C (p.Arg1462=)
22	g.50722238A>G	CA515264862	SHANK3	c.4006A>G (p.Arg1336Gly) n.4590A>G c.3058A>G (p.Arg1020Gly) c.2548A>G (p.Arg850Gly) c.3004A>G (n.3004A>G) c.4402A>G (p.Arg1468Gly) c.4384A>G (p.Arg1462Gly)
22	g.50722238A>T	CA515264863	SHANK3	c.4006A>T (p.Arg1336Ter) n.4590A>T c.3058A>T (p.Arg1020Ter) c.2548A>T (p.Arg850Ter) c.3004A>T (n.3004A>T) c.4402A>T (p.Arg1468Ter) c.4384A>T (p.Arg1462Ter)
22	g.50722239G>A	CA325580291	SHANK3	c.4007G>A (p.Arg1336Lys) n.4591G>A c.3059G>A (p.Arg1020Lys) c.2549G>A (p.Arg850Lys) c.3005G>A (n.3005G>A) c.4403G>A (p.Arg1468Lys) c.4385G>A (p.Arg1462Lys)	dbSNP
22	g.50722239G>C	CA515264865	SHANK3	c.4007G>C (p.Arg1336Thr) n.4591G>C c.3059G>C (p.Arg1020Thr) c.2549G>C (p.Arg850Thr) c.3005G>C (n.3005G>C) c.4403G>C (p.Arg1468Thr) c.4385G>C (p.Arg1462Thr)
22	g.50722239G=	CA2411008697	SHANK3	c.4007G= (p.Arg1336=) n.4591G= c.3059G= (p.Arg1020=) c.2549G= (p.Arg850=) c.3005G= (n.3005G=) c.4403G= (p.Arg1468=) c.4385G= (p.Arg1462=)
22	g.50722239G>T	CA515264864	SHANK3	c.4007G>T (p.Arg1336Ile) n.4591G>T c.3059G>T (p.Arg1020Ile) c.2549G>T (p.Arg850Ile) c.3005G>T (n.3005G>T) c.4403G>T (p.Arg1468Ile) c.4385G>T (p.Arg1462Ile)
22	g.50722240A>C	CA515264866	SHANK3	c.4008A>C (p.Arg1336Ser) n.4592A>C c.3060A>C (p.Arg1020Ser) c.2550A>C (p.Arg850Ser) c.3006A>C (n.3006A>C) c.4404A>C (p.Arg1468Ser) c.4386A>C (p.Arg1462Ser)
22	g.50722240A>G	CA515264869	SHANK3	c.4008A>G (p.Arg1336=) n.4592A>G c.3060A>G (p.Arg1020=) c.2550A>G (p.Arg850=) c.3006A>G (n.3006A>G) c.4404A>G (p.Arg1468=) c.4386A>G (p.Arg1462=)
22	g.50722240A>T	CA515264868	SHANK3	c.4008A>T (p.Arg1336Ser) n.4592A>T c.3060A>T (p.Arg1020Ser) c.2550A>T (p.Arg850Ser) c.3006A>T (n.3006A>T) c.4404A>T (p.Arg1468Ser) c.4386A>T (p.Arg1462Ser)
22	g.50722241A>C	CA515264870	SHANK3	c.4009A>C (p.Arg1337=) n.4593A>C c.3061A>C (p.Arg1021=) c.2551A>C (p.Arg851=) c.3007A>C (n.3007A>C) c.4405A>C (p.Arg1469=) c.4387A>C (p.Arg1463=)
22	g.50722241A>G	CA515264871	SHANK3	c.4009A>G (p.Arg1337Gly) n.4593A>G c.3061A>G (p.Arg1021Gly) c.2551A>G (p.Arg851Gly) c.3007A>G (n.3007A>G) c.4405A>G (p.Arg1469Gly) c.4387A>G (p.Arg1463Gly)
22	g.50722241A>T	CA515264872	SHANK3	c.4009A>T (p.Arg1337Trp) n.4593A>T c.3061A>T (p.Arg1021Trp) c.2551A>T (p.Arg851Trp) c.3007A>T (n.3007A>T) c.4405A>T (p.Arg1469Trp) c.4387A>T (p.Arg1463Trp)
22	g.50722242G>A	CA515264874	SHANK3	c.4010G>A (p.Arg1337Lys) n.4594G>A c.3062G>A (p.Arg1021Lys) c.2552G>A (p.Arg851Lys) c.3008G>A (n.3008G>A) c.4406G>A (p.Arg1469Lys) c.4388G>A (p.Arg1463Lys)	ClinVar dbSNP
22	g.50722242G>C	CA515264875	SHANK3	c.4010G>C (p.Arg1337Thr) n.4594G>C c.3062G>C (p.Arg1021Thr) c.2552G>C (p.Arg851Thr) c.3008G>C (n.3008G>C) c.4406G>C (p.Arg1469Thr) c.4388G>C (p.Arg1463Thr)
22	g.50722242G>T	CA515264876	SHANK3	c.4010G>T (p.Arg1337Met) n.4594G>T c.3062G>T (p.Arg1021Met) c.2552G>T (p.Arg851Met) c.3008G>T (n.3008G>T) c.4406G>T (p.Arg1469Met) c.4388G>T (p.Arg1463Met)
22	g.50722243G>A	CA515264880	SHANK3	c.4011G>A (p.Arg1337=) n.4595G>A c.3063G>A (p.Arg1021=) c.2553G>A (p.Arg851=) c.3009G>A (n.3009G>A) c.4407G>A (p.Arg1469=) c.4389G>A (p.Arg1463=)	gnomAD v4
22	g.50722243G>C	CA515264878	SHANK3	c.4011G>C (p.Arg1337Ser) n.4595G>C c.3063G>C (p.Arg1021Ser) c.2553G>C (p.Arg851Ser) c.3009G>C (n.3009G>C) c.4407G>C (p.Arg1469Ser) c.4389G>C (p.Arg1463Ser)
22	g.50722243G>T	CA515264877	SHANK3	c.4011G>T (p.Arg1337Ser) n.4595G>T c.3063G>T (p.Arg1021Ser) c.2553G>T (p.Arg851Ser) c.3009G>T (n.3009G>T) c.4407G>T (p.Arg1469Ser) c.4389G>T (p.Arg1463Ser)
22	g.50722244T>A	CA515264881	SHANK3	c.4012T>A (p.Ser1338Thr) n.4596T>A c.3064T>A (p.Ser1022Thr) c.2554T>A (p.Ser852Thr) c.3010T>A (n.3010T>A) c.4408T>A (p.Ser1470Thr) c.4390T>A (p.Ser1464Thr)
22	g.50722244T>C	CA515264882	SHANK3	c.4012T>C (p.Ser1338Pro) n.4596T>C c.3064T>C (p.Ser1022Pro) c.2554T>C (p.Ser852Pro) c.3010T>C (n.3010T>C) c.4408T>C (p.Ser1470Pro) c.4390T>C (p.Ser1464Pro)
22	g.50722244T>G	CA515264883	SHANK3	c.4012T>G (p.Ser1338Ala) n.4596T>G c.3064T>G (p.Ser1022Ala) c.2554T>G (p.Ser852Ala) c.3010T>G (n.3010T>G) c.4408T>G (p.Ser1470Ala) c.4390T>G (p.Ser1464Ala)	gnomAD v4
22	g.50722245C>A	CA515264884	SHANK3	c.4013C>A (p.Ser1338Tyr) n.4597C>A c.3065C>A (p.Ser1022Tyr) c.2555C>A (p.Ser852Tyr) c.3011C>A (n.3011C>A) c.4409C>A (p.Ser1470Tyr) c.4391C>A (p.Ser1464Tyr)
22	g.50722245C=	CA2411008698	SHANK3	c.4013C= (p.Ser1338=) n.4597C= c.3065C= (p.Ser1022=) c.2555C= (p.Ser852=) c.3011C= (n.3011C=) c.4409C= (p.Ser1470=) c.4391C= (p.Ser1464=)
22	g.50722245C>G	CA515264885	SHANK3	c.4013C>G (p.Ser1338Cys) n.4597C>G c.3065C>G (p.Ser1022Cys) c.2555C>G (p.Ser852Cys) c.3011C>G (n.3011C>G) c.4409C>G (p.Ser1470Cys) c.4391C>G (p.Ser1464Cys)	dbSNP gnomAD v3 gnomAD v4
22	g.50722245C>T	CA515264886	SHANK3	c.4013C>T (p.Ser1338Phe) n.4597C>T c.3065C>T (p.Ser1022Phe) c.2555C>T (p.Ser852Phe) c.3011C>T (n.3011C>T) c.4409C>T (p.Ser1470Phe) c.4391C>T (p.Ser1464Phe)
22	g.50722246C>A	CA515264887	SHANK3	c.4014C>A (p.Ser1338=) n.4598C>A c.3066C>A (p.Ser1022=) c.2556C>A (p.Ser852=) c.3012C>A (n.3012C>A) c.4410C>A (p.Ser1470=) c.4392C>A (p.Ser1464=)
22	g.50722246C>G	CA515264889	SHANK3	c.4014C>G (p.Ser1338=) n.4598C>G c.3066C>G (p.Ser1022=) c.2556C>G (p.Ser852=) c.3012C>G (n.3012C>G) c.4410C>G (p.Ser1470=) c.4392C>G (p.Ser1464=)
22	g.50722246C>T	CA515264888	SHANK3	c.4014C>T (p.Ser1338=) n.4598C>T c.3066C>T (p.Ser1022=) c.2556C>T (p.Ser852=) c.3012C>T (n.3012C>T) c.4410C>T (p.Ser1470=) c.4392C>T (p.Ser1464=)	gnomAD v4
22	g.50722247A>C	CA515264891	SHANK3	c.4015A>C (p.Lys1339Gln) n.4599A>C c.3067A>C (p.Lys1023Gln) c.2557A>C (p.Lys853Gln) c.3013A>C (n.3013A>C) c.4411A>C (p.Lys1471Gln) c.4393A>C (p.Lys1465Gln)
22	g.50722247A>G	CA515264894	SHANK3	c.4015A>G (p.Lys1339Glu) n.4599A>G c.3067A>G (p.Lys1023Glu) c.2557A>G (p.Lys853Glu) c.3013A>G (n.3013A>G) c.4411A>G (p.Lys1471Glu) c.4393A>G (p.Lys1465Glu)
22	g.50722247A>T	CA515264895	SHANK3	c.4015A>T (p.Lys1339Ter) n.4599A>T c.3067A>T (p.Lys1023Ter) c.2557A>T (p.Lys853Ter) c.3013A>T (n.3013A>T) c.4411A>T (p.Lys1471Ter) c.4393A>T (p.Lys1465Ter)
22	g.50722248A>C	CA515264896	SHANK3	c.4016A>C (p.Lys1339Thr) n.4600A>C c.3068A>C (p.Lys1023Thr) c.2558A>C (p.Lys853Thr) c.3014A>C (n.3014A>C) c.4412A>C (p.Lys1471Thr) c.4394A>C (p.Lys1465Thr)
22	g.50722248A>G	CA515264897	SHANK3	c.4016A>G (p.Lys1339Arg) n.4600A>G c.3068A>G (p.Lys1023Arg) c.2558A>G (p.Lys853Arg) c.3014A>G (n.3014A>G) c.4412A>G (p.Lys1471Arg) c.4394A>G (p.Lys1465Arg)
22	g.50722248A>T	CA515264898	SHANK3	c.4016A>T (p.Lys1339Met) n.4600A>T c.3068A>T (p.Lys1023Met) c.2558A>T (p.Lys853Met) c.3014A>T (n.3014A>T) c.4412A>T (p.Lys1471Met) c.4394A>T (p.Lys1465Met)
22	g.50722249G>A	CA10326278	SHANK3	c.4017G>A (p.Lys1339=) n.4601G>A c.3069G>A (p.Lys1023=) c.2559G>A (p.Lys853=) c.3015G>A (n.3015G>A) c.4413G>A (p.Lys1471=) c.4395G>A (p.Lys1465=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722249G>C	CA515264899	SHANK3	c.4017G>C (p.Lys1339Asn) n.4601G>C c.3069G>C (p.Lys1023Asn) c.2559G>C (p.Lys853Asn) c.3015G>C (n.3015G>C) c.4413G>C (p.Lys1471Asn) c.4395G>C (p.Lys1465Asn)
22	g.50722249G=	CA2411008699	SHANK3	c.4017G= (p.Lys1339=) n.4601G= c.3069G= (p.Lys1023=) c.2559G= (p.Lys853=) c.3015G= (n.3015G=) c.4413G= (p.Lys1471=) c.4395G= (p.Lys1465=)
22	g.50722249G>T	CA515264900	SHANK3	c.4017G>T (p.Lys1339Asn) n.4601G>T c.3069G>T (p.Lys1023Asn) c.2559G>T (p.Lys853Asn) c.3015G>T (n.3015G>T) c.4413G>T (p.Lys1471Asn) c.4395G>T (p.Lys1465Asn)
22	g.50722250C>A	CA515264901	SHANK3	c.4018C>A (p.Leu1340Ile) n.4602C>A c.3070C>A (p.Leu1024Ile) c.2560C>A (p.Leu854Ile) c.3016C>A (n.3016C>A) c.4414C>A (p.Leu1472Ile) c.4396C>A (p.Leu1466Ile)
22	g.50722250C=	CA2411008700	SHANK3	c.4018C= (p.Leu1340=) n.4602C= c.3070C= (p.Leu1024=) c.2560C= (p.Leu854=) c.3016C= (n.3016C=) c.4414C= (p.Leu1472=) c.4396C= (p.Leu1466=)
22	g.50722250C>G	CA515264902	SHANK3	c.4018C>G (p.Leu1340Val) n.4602C>G c.3070C>G (p.Leu1024Val) c.2560C>G (p.Leu854Val) c.3016C>G (n.3016C>G) c.4414C>G (p.Leu1472Val) c.4396C>G (p.Leu1466Val)
22	g.50722250C>T	CA515264903	SHANK3	c.4018C>T (p.Leu1340=) n.4602C>T c.3070C>T (p.Leu1024=) c.2560C>T (p.Leu854=) c.3016C>T (n.3016C>T) c.4414C>T (p.Leu1472=) c.4396C>T (p.Leu1466=)	dbSNP gnomAD v3 gnomAD v4
22	g.50722251T>A	CA515264904	SHANK3	c.4019T>A (p.Leu1340Gln) n.4603T>A c.3071T>A (p.Leu1024Gln) c.2561T>A (p.Leu854Gln) c.3017T>A (n.3017T>A) c.4415T>A (p.Leu1472Gln) c.4397T>A (p.Leu1466Gln)
22	g.50722251T>C	CA515264906	SHANK3	c.4019T>C (p.Leu1340Pro) n.4603T>C c.3071T>C (p.Leu1024Pro) c.2561T>C (p.Leu854Pro) c.3017T>C (n.3017T>C) c.4415T>C (p.Leu1472Pro) c.4397T>C (p.Leu1466Pro)
22	g.50722251T>G	CA515264905	SHANK3	c.4019T>G (p.Leu1340Arg) n.4603T>G c.3071T>G (p.Leu1024Arg) c.2561T>G (p.Leu854Arg) c.3017T>G (n.3017T>G) c.4415T>G (p.Leu1472Arg) c.4397T>G (p.Leu1466Arg)
22	g.50722252A=	CA2411008701	SHANK3	c.4020A= (p.Leu1340=) n.4604A= c.3072A= (p.Leu1024=) c.2562A= (p.Leu854=) c.3018A= (n.3018A=) c.4416A= (p.Leu1472=) c.4398A= (p.Leu1466=)
22	g.50722252A>C	CA515264907	SHANK3	c.4020A>C (p.Leu1340=) n.4604A>C c.3072A>C (p.Leu1024=) c.2562A>C (p.Leu854=) c.3018A>C (n.3018A>C) c.4416A>C (p.Leu1472=) c.4398A>C (p.Leu1466=)
22	g.50722252A>G	CA10326279	SHANK3	c.4020A>G (p.Leu1340=) n.4604A>G c.3072A>G (p.Leu1024=) c.2562A>G (p.Leu854=) c.3018A>G (n.3018A>G) c.4416A>G (p.Leu1472=) c.4398A>G (p.Leu1466=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722252A>T	CA515264908	SHANK3	c.4020A>T (p.Leu1340=) n.4604A>T c.3072A>T (p.Leu1024=) c.2562A>T (p.Leu854=) c.3018A>T (n.3018A>T) c.4416A>T (p.Leu1472=) c.4398A>T (p.Leu1466=)
22	g.50722253T>A	CA515264909	SHANK3	c.4021T>A (p.Trp1341Arg) n.4605T>A c.3073T>A (p.Trp1025Arg) c.2563T>A (p.Trp855Arg) c.3019T>A (n.3019T>A) c.4417T>A (p.Trp1473Arg) c.4399T>A (p.Trp1467Arg)
22	g.50722253T>C	CA515264910	SHANK3	c.4021T>C (p.Trp1341Arg) n.4605T>C c.3073T>C (p.Trp1025Arg) c.2563T>C (p.Trp855Arg) c.3019T>C (n.3019T>C) c.4417T>C (p.Trp1473Arg) c.4399T>C (p.Trp1467Arg)
22	g.50722253T>G	CA515264911	SHANK3	c.4021T>G (p.Trp1341Gly) n.4605T>G c.3073T>G (p.Trp1025Gly) c.2563T>G (p.Trp855Gly) c.3019T>G (n.3019T>G) c.4417T>G (p.Trp1473Gly) c.4399T>G (p.Trp1467Gly)
22	g.50722254G>A	CA515264912	SHANK3	c.4022G>A (p.Trp1341Ter) n.4606G>A c.3074G>A (p.Trp1025Ter) c.2564G>A (p.Trp855Ter) c.3020G>A (n.3020G>A) c.4418G>A (p.Trp1473Ter) c.4400G>A (p.Trp1467Ter)
22	g.50722254G>C	CA515264913	SHANK3	c.4022G>C (p.Trp1341Ser) n.4606G>C c.3074G>C (p.Trp1025Ser) c.2564G>C (p.Trp855Ser) c.3020G>C (n.3020G>C) c.4418G>C (p.Trp1473Ser) c.4400G>C (p.Trp1467Ser)
22	g.50722254G>T	CA515264914	SHANK3	c.4022G>T (p.Trp1341Leu) n.4606G>T c.3074G>T (p.Trp1025Leu) c.2564G>T (p.Trp855Leu) c.3020G>T (n.3020G>T) c.4418G>T (p.Trp1473Leu) c.4400G>T (p.Trp1467Leu)
22	g.50722255G>A	CA515264915	SHANK3	c.4023G>A (p.Trp1341Ter) n.4607G>A c.3075G>A (p.Trp1025Ter) c.2565G>A (p.Trp855Ter) c.3021G>A (n.3021G>A) c.4419G>A (p.Trp1473Ter) c.4401G>A (p.Trp1467Ter)	ClinVar dbSNP
22	g.50722255G>C	CA515264916	SHANK3	c.4023G>C (p.Trp1341Cys) n.4607G>C c.3075G>C (p.Trp1025Cys) c.2565G>C (p.Trp855Cys) c.3021G>C (n.3021G>C) c.4419G>C (p.Trp1473Cys) c.4401G>C (p.Trp1467Cys)
22	g.50722255G>T	CA515264917	SHANK3	c.4023G>T (p.Trp1341Cys) n.4607G>T c.3075G>T (p.Trp1025Cys) c.2565G>T (p.Trp855Cys) c.3021G>T (n.3021G>T) c.4419G>T (p.Trp1473Cys) c.4401G>T (p.Trp1467Cys)
22	g.50722256G>A	CA10326280	SHANK3	c.4024G>A (p.Gly1342Arg) n.4608G>A c.3076G>A (p.Gly1026Arg) c.2566G>A (p.Gly856Arg) c.3022G>A (n.3022G>A) c.4420G>A (p.Gly1474Arg) c.4402G>A (p.Gly1468Arg)	dbSNP ExAC gnomAD v2
22	g.50722256G>C	CA515264919	SHANK3	c.4024G>C (p.Gly1342Arg) n.4608G>C c.3076G>C (p.Gly1026Arg) c.2566G>C (p.Gly856Arg) c.3022G>C (n.3022G>C) c.4420G>C (p.Gly1474Arg) c.4402G>C (p.Gly1468Arg)
22	g.50722256G=	CA2411008702	SHANK3	c.4024G= (p.Gly1342=) n.4608G= c.3076G= (p.Gly1026=) c.2566G= (p.Gly856=) c.3022G= (n.3022G=) c.4420G= (p.Gly1474=) c.4402G= (p.Gly1468=)
22	g.50722256G>T	CA515264918	SHANK3	c.4024G>T (p.Gly1342Trp) n.4608G>T c.3076G>T (p.Gly1026Trp) c.2566G>T (p.Gly856Trp) c.3022G>T (n.3022G>T) c.4420G>T (p.Gly1474Trp) c.4402G>T (p.Gly1468Trp)
22	g.50722257G>A	CA515264921	SHANK3	c.4025G>A (p.Gly1342Glu) n.4609G>A c.3077G>A (p.Gly1026Glu) c.2567G>A (p.Gly856Glu) c.3023G>A (n.3023G>A) c.4421G>A (p.Gly1474Glu) c.4403G>A (p.Gly1468Glu)
22	g.50722257G>C	CA515264922	SHANK3	c.4025G>C (p.Gly1342Ala) n.4609G>C c.3077G>C (p.Gly1026Ala) c.2567G>C (p.Gly856Ala) c.3023G>C (n.3023G>C) c.4421G>C (p.Gly1474Ala) c.4403G>C (p.Gly1468Ala)
22	g.50722257G>T	CA515264924	SHANK3	c.4025G>T (p.Gly1342Val) n.4609G>T c.3077G>T (p.Gly1026Val) c.2567G>T (p.Gly856Val) c.3023G>T (n.3023G>T) c.4421G>T (p.Gly1474Val) c.4403G>T (p.Gly1468Val)
22	g.50722258G>A	CA515264925	SHANK3	c.4026G>A (p.Gly1342=) n.4610G>A c.3078G>A (p.Gly1026=) c.2568G>A (p.Gly856=) c.3024G>A (n.3024G>A) c.4422G>A (p.Gly1474=) c.4404G>A (p.Gly1468=)	COSMIC COSMIC
22	g.50722258G>C	CA515264927	SHANK3	c.4026G>C (p.Gly1342=) n.4610G>C c.3078G>C (p.Gly1026=) c.2568G>C (p.Gly856=) c.3024G>C (n.3024G>C) c.4422G>C (p.Gly1474=) c.4404G>C (p.Gly1468=)
22	g.50722258G>T	CA515264929	SHANK3	c.4026G>T (p.Gly1342=) n.4610G>T c.3078G>T (p.Gly1026=) c.2568G>T (p.Gly856=) c.3024G>T (n.3024G>T) c.4422G>T (p.Gly1474=) c.4404G>T (p.Gly1468=)
22	g.50722259G>A	CA515264931	SHANK3	c.4027G>A (p.Asp1343Asn) n.4611G>A c.3079G>A (p.Asp1027Asn) c.2569G>A (p.Asp857Asn) c.3025G>A (n.3025G>A) c.4423G>A (p.Asp1475Asn) c.4405G>A (p.Asp1469Asn)	dbSNP gnomAD v2 gnomAD v4
22	g.50722259G>C	CA515264932	SHANK3	c.4027G>C (p.Asp1343His) n.4611G>C c.3079G>C (p.Asp1027His) c.2569G>C (p.Asp857His) c.3025G>C (n.3025G>C) c.4423G>C (p.Asp1475His) c.4405G>C (p.Asp1469His)
22	g.50722259G=	CA2411008703	SHANK3	c.4027G= (p.Asp1343=) n.4611G= c.3079G= (p.Asp1027=) c.2569G= (p.Asp857=) c.3025G= (n.3025G=) c.4423G= (p.Asp1475=) c.4405G= (p.Asp1469=)
22	g.50722259G>T	CA515264933	SHANK3	c.4027G>T (p.Asp1343Tyr) n.4611G>T c.3079G>T (p.Asp1027Tyr) c.2569G>T (p.Asp857Tyr) c.3025G>T (n.3025G>T) c.4423G>T (p.Asp1475Tyr) c.4405G>T (p.Asp1469Tyr)
22	g.50722260A>C	CA515264934	SHANK3	c.4028A>C (p.Asp1343Ala) n.4612A>C c.3080A>C (p.Asp1027Ala) c.2570A>C (p.Asp857Ala) c.3026A>C (n.3026A>C) c.4424A>C (p.Asp1475Ala) c.4406A>C (p.Asp1469Ala)
22	g.50722260A>G	CA515264935	SHANK3	c.4028A>G (p.Asp1343Gly) n.4612A>G c.3080A>G (p.Asp1027Gly) c.2570A>G (p.Asp857Gly) c.3026A>G (n.3026A>G) c.4424A>G (p.Asp1475Gly) c.4406A>G (p.Asp1469Gly)
22	g.50722260A>T	CA515264936	SHANK3	c.4028A>T (p.Asp1343Val) n.4612A>T c.3080A>T (p.Asp1027Val) c.2570A>T (p.Asp857Val) c.3026A>T (n.3026A>T) c.4424A>T (p.Asp1475Val) c.4406A>T (p.Asp1469Val)
22	g.50722261C>A	CA515264937	SHANK3	c.4029C>A (p.Asp1343Glu) n.4613C>A c.3081C>A (p.Asp1027Glu) c.2571C>A (p.Asp857Glu) c.3027C>A (n.3027C>A) c.4425C>A (p.Asp1475Glu) c.4407C>A (p.Asp1469Glu)
22	g.50722261C=	CA2411008704	SHANK3	c.4029C= (p.Asp1343=) n.4613C= c.3081C= (p.Asp1027=) c.2571C= (p.Asp857=) c.3027C= (n.3027C=) c.4425C= (p.Asp1475=) c.4407C= (p.Asp1469=)
22	g.50722261C>G	CA515264940	SHANK3	c.4029C>G (p.Asp1343Glu) n.4613C>G c.3081C>G (p.Asp1027Glu) c.2571C>G (p.Asp857Glu) c.3027C>G (n.3027C>G) c.4425C>G (p.Asp1475Glu) c.4407C>G (p.Asp1469Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722261C>T	CA515264938	SHANK3	c.4029C>T (p.Asp1343=) n.4613C>T c.3081C>T (p.Asp1027=) c.2571C>T (p.Asp857=) c.3027C>T (n.3027C>T) c.4425C>T (p.Asp1475=) c.4407C>T (p.Asp1469=)
22	g.50722262C>A	CA515264941	SHANK3	c.4030C>A (p.Pro1344Thr) n.4614C>A c.3082C>A (p.Pro1028Thr) c.2572C>A (p.Pro858Thr) c.3028C>A (n.3028C>A) c.4426C>A (p.Pro1476Thr) c.4408C>A (p.Pro1470Thr)
22	g.50722262C>G	CA515264943	SHANK3	c.4030C>G (p.Pro1344Ala) n.4614C>G c.3082C>G (p.Pro1028Ala) c.2572C>G (p.Pro858Ala) c.3028C>G (n.3028C>G) c.4426C>G (p.Pro1476Ala) c.4408C>G (p.Pro1470Ala)
22	g.50722262C>T	CA515264942	SHANK3	c.4030C>T (p.Pro1344Ser) n.4614C>T c.3082C>T (p.Pro1028Ser) c.2572C>T (p.Pro858Ser) c.3028C>T (n.3028C>T) c.4426C>T (p.Pro1476Ser) c.4408C>T (p.Pro1470Ser)	gnomAD v4
22	g.50722263C>A	CA515264945	SHANK3	c.4031C>A (p.Pro1344His) n.4615C>A c.3083C>A (p.Pro1028His) c.2573C>A (p.Pro858His) c.3029C>A (n.3029C>A) c.4427C>A (p.Pro1476His) c.4409C>A (p.Pro1470His)
22	g.50722263C=	CA2411008705	SHANK3	c.4031C= (p.Pro1344=) n.4615C= c.3083C= (p.Pro1028=) c.2573C= (p.Pro858=) c.3029C= (n.3029C=) c.4427C= (p.Pro1476=) c.4409C= (p.Pro1470=)
22	g.50722263C>G	CA515264946	SHANK3	c.4031C>G (p.Pro1344Arg) n.4615C>G c.3083C>G (p.Pro1028Arg) c.2573C>G (p.Pro858Arg) c.3029C>G (n.3029C>G) c.4427C>G (p.Pro1476Arg) c.4409C>G (p.Pro1470Arg)
22	g.50722263C>T	CA515264947	SHANK3	c.4031C>T (p.Pro1344Leu) n.4615C>T c.3083C>T (p.Pro1028Leu) c.2573C>T (p.Pro858Leu) c.3029C>T (n.3029C>T) c.4427C>T (p.Pro1476Leu) c.4409C>T (p.Pro1470Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722264C>A	CA515264948	SHANK3	c.4032C>A (p.Pro1344=) n.4616C>A c.3084C>A (p.Pro1028=) c.2574C>A (p.Pro858=) c.3030C>A (n.3030C>A) c.4428C>A (p.Pro1476=) c.4410C>A (p.Pro1470=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722264C=	CA2411008706	SHANK3	c.4032C= (p.Pro1344=) n.4616C= c.3084C= (p.Pro1028=) c.2574C= (p.Pro858=) c.3030C= (n.3030C=) c.4428C= (p.Pro1476=) c.4410C= (p.Pro1470=)
22	g.50722264C>G	CA515264949	SHANK3	c.4032C>G (p.Pro1344=) n.4616C>G c.3084C>G (p.Pro1028=) c.2574C>G (p.Pro858=) c.3030C>G (n.3030C>G) c.4428C>G (p.Pro1476=) c.4410C>G (p.Pro1470=)
22	g.50722264C>T	CA10326281	SHANK3	c.4032C>T (p.Pro1344=) n.4616C>T c.3084C>T (p.Pro1028=) c.2574C>T (p.Pro858=) c.3030C>T (n.3030C>T) c.4428C>T (p.Pro1476=) c.4410C>T (p.Pro1470=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50722265G>A	CA10326282	SHANK3	c.4033G>A (p.Val1345Met) n.4617G>A c.3085G>A (p.Val1029Met) c.2575G>A (p.Val859Met) c.3031G>A (n.3031G>A) c.4429G>A (p.Val1477Met) c.4411G>A (p.Val1471Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722265G>C	CA515264952	SHANK3	c.4033G>C (p.Val1345Leu) n.4617G>C c.3085G>C (p.Val1029Leu) c.2575G>C (p.Val859Leu) c.3031G>C (n.3031G>C) c.4429G>C (p.Val1477Leu) c.4411G>C (p.Val1471Leu)
22	g.50722265G=	CA2411008707	SHANK3	c.4033G= (p.Val1345=) n.4617G= c.3085G= (p.Val1029=) c.2575G= (p.Val859=) c.3031G= (n.3031G=) c.4429G= (p.Val1477=) c.4411G= (p.Val1471=)
22	g.50722265G>T	CA515264953	SHANK3	c.4033G>T (p.Val1345Leu) n.4617G>T c.3085G>T (p.Val1029Leu) c.2575G>T (p.Val859Leu) c.3031G>T (n.3031G>T) c.4429G>T (p.Val1477Leu) c.4411G>T (p.Val1471Leu)	gnomAD v4
22	g.50722266T>A	CA10326283	SHANK3	c.4034T>A (p.Val1345Glu) n.4618T>A c.3086T>A (p.Val1029Glu) c.2576T>A (p.Val859Glu) c.3032T>A (n.3032T>A) c.4430T>A (p.Val1477Glu) c.4412T>A (p.Val1471Glu)	dbSNP ExAC gnomAD v3 gnomAD v4
22	g.50722266T>C	CA515264955	SHANK3	c.4034T>C (p.Val1345Ala) n.4618T>C c.3086T>C (p.Val1029Ala) c.2576T>C (p.Val859Ala) c.3032T>C (n.3032T>C) c.4430T>C (p.Val1477Ala) c.4412T>C (p.Val1471Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.50722266T>G	CA515264957	SHANK3	c.4034T>G (p.Val1345Gly) n.4618T>G c.3086T>G (p.Val1029Gly) c.2576T>G (p.Val859Gly) c.3032T>G (n.3032T>G) c.4430T>G (p.Val1477Gly) c.4412T>G (p.Val1471Gly)
22	g.50722266T=	CA2411008708	SHANK3	c.4034T= (p.Val1345=) n.4618T= c.3086T= (p.Val1029=) c.2576T= (p.Val859=) c.3032T= (n.3032T=) c.4430T= (p.Val1477=) c.4412T= (p.Val1471=)
22	g.50722267G>A	CA515264958	SHANK3	c.4035G>A (p.Val1345=) n.4619G>A c.3087G>A (p.Val1029=) c.2577G>A (p.Val859=) c.3033G>A (n.3033G>A) c.4431G>A (p.Val1477=) c.4413G>A (p.Val1471=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722267G>C	CA515264960	SHANK3	c.4035G>C (p.Val1345=) n.4619G>C c.3087G>C (p.Val1029=) c.2577G>C (p.Val859=) c.3033G>C (n.3033G>C) c.4431G>C (p.Val1477=) c.4413G>C (p.Val1471=)
22	g.50722267G=	CA2411008709	SHANK3	c.4035G= (p.Val1345=) n.4619G= c.3087G= (p.Val1029=) c.2577G= (p.Val859=) c.3033G= (n.3033G=) c.4431G= (p.Val1477=) c.4413G= (p.Val1471=)
22	g.50722267G>T	CA515264959	SHANK3	c.4035G>T (p.Val1345=) n.4619G>T c.3087G>T (p.Val1029=) c.2577G>T (p.Val859=) c.3033G>T (n.3033G>T) c.4431G>T (p.Val1477=) c.4413G>T (p.Val1471=)
22	g.50722268G>A	CA515264962	SHANK3	c.4036G>A (p.Glu1346Lys) n.4620G>A c.3088G>A (p.Glu1030Lys) c.2578G>A (p.Glu860Lys) c.3034G>A (n.3034G>A) c.4432G>A (p.Glu1478Lys) c.4414G>A (p.Glu1472Lys)	gnomAD v4
22	g.50722268G>C	CA10326284	SHANK3	c.4036G>C (p.Glu1346Gln) n.4620G>C c.3088G>C (p.Glu1030Gln) c.2578G>C (p.Glu860Gln) c.3034G>C (n.3034G>C) c.4432G>C (p.Glu1478Gln) c.4414G>C (p.Glu1472Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722268G=	CA2411008710	SHANK3	c.4036G= (p.Glu1346=) n.4620G= c.3088G= (p.Glu1030=) c.2578G= (p.Glu860=) c.3034G= (n.3034G=) c.4432G= (p.Glu1478=) c.4414G= (p.Glu1472=)
22	g.50722268G>T	CA515264963	SHANK3	c.4036G>T (p.Glu1346Ter) n.4620G>T c.3088G>T (p.Glu1030Ter) c.2578G>T (p.Glu860Ter) c.3034G>T (n.3034G>T) c.4432G>T (p.Glu1478Ter) c.4414G>T (p.Glu1472Ter)
22	g.50722269A>C	CA515264964	SHANK3	c.4037A>C (p.Glu1346Ala) n.4621A>C c.3089A>C (p.Glu1030Ala) c.2579A>C (p.Glu860Ala) c.3035A>C (n.3035A>C) c.4433A>C (p.Glu1478Ala) c.4415A>C (p.Glu1472Ala)
22	g.50722269A>G	CA515264965	SHANK3	c.4037A>G (p.Glu1346Gly) n.4621A>G c.3089A>G (p.Glu1030Gly) c.2579A>G (p.Glu860Gly) c.3035A>G (n.3035A>G) c.4433A>G (p.Glu1478Gly) c.4415A>G (p.Glu1472Gly)
22	g.50722269A>T	CA515264967	SHANK3	c.4037A>T (p.Glu1346Val) n.4621A>T c.3089A>T (p.Glu1030Val) c.2579A>T (p.Glu860Val) c.3035A>T (n.3035A>T) c.4433A>T (p.Glu1478Val) c.4415A>T (p.Glu1472Val)
22	g.50722270G>A	CA515264969	SHANK3	c.4038G>A (p.Glu1346=) n.4622G>A c.3090G>A (p.Glu1030=) c.2580G>A (p.Glu860=) c.3036G>A (n.3036G>A) c.4434G>A (p.Glu1478=) c.4416G>A (p.Glu1472=)	ClinVar dbSNP
22	g.50722270G>C	CA515264970	SHANK3	c.4038G>C (p.Glu1346Asp) n.4622G>C c.3090G>C (p.Glu1030Asp) c.2580G>C (p.Glu860Asp) c.3036G>C (n.3036G>C) c.4434G>C (p.Glu1478Asp) c.4416G>C (p.Glu1472Asp)
22	g.50722270G=	CA2411008711	SHANK3	c.4038G= (p.Glu1346=) n.4622G= c.3090G= (p.Glu1030=) c.2580G= (p.Glu860=) c.3036G= (n.3036G=) c.4434G= (p.Glu1478=) c.4416G= (p.Glu1472=)
22	g.50722270G>T	CA515264971	SHANK3	c.4038G>T (p.Glu1346Asp) n.4622G>T c.3090G>T (p.Glu1030Asp) c.2580G>T (p.Glu860Asp) c.3036G>T (n.3036G>T) c.4434G>T (p.Glu1478Asp) c.4416G>T (p.Glu1472Asp)	gnomAD v4
22	g.50722271A=	CA2411008712	SHANK3	c.4039A= (p.Ser1347=) n.4623A= c.3091A= (p.Ser1031=) c.2581A= (p.Ser861=) c.3037A= (n.3037A=) c.4435A= (p.Ser1479=) c.4417A= (p.Ser1473=)
22	g.50722271A>C	CA515264976	SHANK3	c.4039A>C (p.Ser1347Arg) n.4623A>C c.3091A>C (p.Ser1031Arg) c.2581A>C (p.Ser861Arg) c.3037A>C (n.3037A>C) c.4435A>C (p.Ser1479Arg) c.4417A>C (p.Ser1473Arg)
22	g.50722271A>G	CA515264974	SHANK3	c.4039A>G (p.Ser1347Gly) n.4623A>G c.3091A>G (p.Ser1031Gly) c.2581A>G (p.Ser861Gly) c.3037A>G (n.3037A>G) c.4435A>G (p.Ser1479Gly) c.4417A>G (p.Ser1473Gly)	dbSNP gnomAD v4
22	g.50722271A>T	CA515264972	SHANK3	c.4039A>T (p.Ser1347Cys) n.4623A>T c.3091A>T (p.Ser1031Cys) c.2581A>T (p.Ser861Cys) c.3037A>T (n.3037A>T) c.4435A>T (p.Ser1479Cys) c.4417A>T (p.Ser1473Cys)
22	g.50722272G>A	CA515264978	SHANK3	c.4040G>A (p.Ser1347Asn) n.4624G>A c.3092G>A (p.Ser1031Asn) c.2582G>A (p.Ser861Asn) c.3038G>A (n.3038G>A) c.4436G>A (p.Ser1479Asn) c.4418G>A (p.Ser1473Asn)	gnomAD v4
22	g.50722272G>C	CA515264979	SHANK3	c.4040G>C (p.Ser1347Thr) n.4624G>C c.3092G>C (p.Ser1031Thr) c.2582G>C (p.Ser861Thr) c.3038G>C (n.3038G>C) c.4436G>C (p.Ser1479Thr) c.4418G>C (p.Ser1473Thr)
22	g.50722272G=	CA2411008713	SHANK3	c.4040G= (p.Ser1347=) n.4624G= c.3092G= (p.Ser1031=) c.2582G= (p.Ser861=) c.3038G= (n.3038G=) c.4436G= (p.Ser1479=) c.4418G= (p.Ser1473=)
22	g.50722272G>T	CA10326285	SHANK3	c.4040G>T (p.Ser1347Ile) n.4624G>T c.3092G>T (p.Ser1031Ile) c.2582G>T (p.Ser861Ile) c.3038G>T (n.3038G>T) c.4436G>T (p.Ser1479Ile) c.4418G>T (p.Ser1473Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722273C>A	CA515264981	SHANK3	c.4041C>A (p.Ser1347Arg) n.4625C>A c.3093C>A (p.Ser1031Arg) c.2583C>A (p.Ser861Arg) c.3039C>A (n.3039C>A) c.4437C>A (p.Ser1479Arg) c.4419C>A (p.Ser1473Arg)
22	g.50722273C=	CA2411008714	SHANK3	c.4041C= (p.Ser1347=) n.4625C= c.3093C= (p.Ser1031=) c.2583C= (p.Ser861=) c.3039C= (n.3039C=) c.4437C= (p.Ser1479=) c.4419C= (p.Ser1473=)
22	g.50722273C>G	CA515264982	SHANK3	c.4041C>G (p.Ser1347Arg) n.4625C>G c.3093C>G (p.Ser1031Arg) c.2583C>G (p.Ser861Arg) c.3039C>G (n.3039C>G) c.4437C>G (p.Ser1479Arg) c.4419C>G (p.Ser1473Arg)
22	g.50722273C>T	CA325580360	SHANK3	c.4041C>T (p.Ser1347=) n.4625C>T c.3093C>T (p.Ser1031=) c.2583C>T (p.Ser861=) c.3039C>T (n.3039C>T) c.4437C>T (p.Ser1479=) c.4419C>T (p.Ser1473=)	dbSNP gnomAD v2
22	g.50722274C>A	CA515264983	SHANK3	c.4042C>A (p.Arg1348=) n.4626C>A c.3094C>A (p.Arg1032=) c.2584C>A (p.Arg862=) c.3040C>A (n.3040C>A) c.4438C>A (p.Arg1480=) c.4420C>A (p.Arg1474=)	COSMIC COSMIC
22	g.50722274C=	CA2411008715	SHANK3	c.4042C= (p.Arg1348=) n.4626C= c.3094C= (p.Arg1032=) c.2584C= (p.Arg862=) c.3040C= (n.3040C=) c.4438C= (p.Arg1480=) c.4420C= (p.Arg1474=)
22	g.50722274C>G	CA515264985	SHANK3	c.4042C>G (p.Arg1348Gly) n.4626C>G c.3094C>G (p.Arg1032Gly) c.2584C>G (p.Arg862Gly) c.3040C>G (n.3040C>G) c.4438C>G (p.Arg1480Gly) c.4420C>G (p.Arg1474Gly)	gnomAD v4
22	g.50722274C>T	CA515264987	SHANK3	c.4042C>T (p.Arg1348Trp) n.4626C>T c.3094C>T (p.Arg1032Trp) c.2584C>T (p.Arg862Trp) c.3040C>T (n.3040C>T) c.4438C>T (p.Arg1480Trp) c.4420C>T (p.Arg1474Trp)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50722275G>A	CA515264989	SHANK3	c.4043G>A (p.Arg1348Gln) n.4627G>A c.3095G>A (p.Arg1032Gln) c.2585G>A (p.Arg862Gln) c.3041G>A (n.3041G>A) c.4439G>A (p.Arg1480Gln) c.4421G>A (p.Arg1474Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50722275G>C	CA515264990	SHANK3	c.4043G>C (p.Arg1348Pro) n.4627G>C c.3095G>C (p.Arg1032Pro) c.2585G>C (p.Arg862Pro) c.3041G>C (n.3041G>C) c.4439G>C (p.Arg1480Pro) c.4421G>C (p.Arg1474Pro)
22	g.50722275G=	CA2411008716	SHANK3	c.4043G= (p.Arg1348=) n.4627G= c.3095G= (p.Arg1032=) c.2585G= (p.Arg862=) c.3041G= (n.3041G=) c.4439G= (p.Arg1480=) c.4421G= (p.Arg1474=)
22	g.50722275G>T	CA515264991	SHANK3	c.4043G>T (p.Arg1348Leu) n.4627G>T c.3095G>T (p.Arg1032Leu) c.2585G>T (p.Arg862Leu) c.3041G>T (n.3041G>T) c.4439G>T (p.Arg1480Leu) c.4421G>T (p.Arg1474Leu)
22	g.50722279del	CA2657581527	SHANK3	c.4047del (p.Leu1350SerfsTer11) n.4631del c.3099del (p.Leu1034SerfsTer11) c.2589del (p.Leu864SerfsTer11) c.3045del (n.3045del) c.4443del (p.Leu1482SerfsTer11) c.4425del (p.Leu1476SerfsTer11)	gnomAD v4
22	g.50722276G>A	CA515264996	SHANK3	c.4044G>A (p.Arg1348=) n.4628G>A c.3096G>A (p.Arg1032=) c.2586G>A (p.Arg862=) c.3042G>A (n.3042G>A) c.4440G>A (p.Arg1480=) c.4422G>A (p.Arg1474=)
22	g.50722276G>C	CA515264994	SHANK3	c.4044G>C (p.Arg1348=) n.4628G>C c.3096G>C (p.Arg1032=) c.2586G>C (p.Arg862=) c.3042G>C (n.3042G>C) c.4440G>C (p.Arg1480=) c.4422G>C (p.Arg1474=)
22	g.50722276G>T	CA515264995	SHANK3	c.4044G>T (p.Arg1348=) n.4628G>T c.3096G>T (p.Arg1032=) c.2586G>T (p.Arg862=) c.3042G>T (n.3042G>T) c.4440G>T (p.Arg1480=) c.4422G>T (p.Arg1474=)

Number of alleles fetched