Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50722103A>C	CA515264437	SHANK3	c.3871A>C (p.Lys1291Gln) n.4455A>C c.2923A>C (p.Lys975Gln) c.2413A>C (p.Lys805Gln) c.2869A>C (n.2869A>C) c.4267A>C (p.Lys1423Gln) c.4249A>C (p.Lys1417Gln)
22	g.50722103A>G	CA515264438	SHANK3	c.3871A>G (p.Lys1291Glu) n.4455A>G c.2923A>G (p.Lys975Glu) c.2413A>G (p.Lys805Glu) c.2869A>G (n.2869A>G) c.4267A>G (p.Lys1423Glu) c.4249A>G (p.Lys1417Glu)
22	g.50722103A>T	CA515264439	SHANK3	c.3871A>T (p.Lys1291Ter) n.4455A>T c.2923A>T (p.Lys975Ter) c.2413A>T (p.Lys805Ter) c.2869A>T (n.2869A>T) c.4267A>T (p.Lys1423Ter) c.4249A>T (p.Lys1417Ter)
22	g.50722104A=	CA2411008622	SHANK3	c.3872A= (p.Lys1291=) n.4456A= c.2924A= (p.Lys975=) c.2414A= (p.Lys805=) c.2870A= (n.2870A=) c.4268A= (p.Lys1423=) c.4250A= (p.Lys1417=)
22	g.50722104A>C	CA515264440	SHANK3	c.3872A>C (p.Lys1291Thr) n.4456A>C c.2924A>C (p.Lys975Thr) c.2414A>C (p.Lys805Thr) c.2870A>C (n.2870A>C) c.4268A>C (p.Lys1423Thr) c.4250A>C (p.Lys1417Thr)
22	g.50722104A>G	CA515264441	SHANK3	c.3872A>G (p.Lys1291Arg) n.4456A>G c.2924A>G (p.Lys975Arg) c.2414A>G (p.Lys805Arg) c.2870A>G (n.2870A>G) c.4268A>G (p.Lys1423Arg) c.4250A>G (p.Lys1417Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722104A>T	CA515264442	SHANK3	c.3872A>T (p.Lys1291Met) n.4456A>T c.2924A>T (p.Lys975Met) c.2414A>T (p.Lys805Met) c.2870A>T (n.2870A>T) c.4268A>T (p.Lys1423Met) c.4250A>T (p.Lys1417Met)
22	g.50722105G>A	CA515264443	SHANK3	c.3873G>A (p.Lys1291=) n.4457G>A c.2925G>A (p.Lys975=) c.2415G>A (p.Lys805=) c.2871G>A (n.2871G>A) c.4269G>A (p.Lys1423=) c.4251G>A (p.Lys1417=)
22	g.50722105G>C	CA515264444	SHANK3	c.3873G>C (p.Lys1291Asn) n.4457G>C c.2925G>C (p.Lys975Asn) c.2415G>C (p.Lys805Asn) c.2871G>C (n.2871G>C) c.4269G>C (p.Lys1423Asn) c.4251G>C (p.Lys1417Asn)
22	g.50722105G>T	CA515264445	SHANK3	c.3873G>T (p.Lys1291Asn) n.4457G>T c.2925G>T (p.Lys975Asn) c.2415G>T (p.Lys805Asn) c.2871G>T (n.2871G>T) c.4269G>T (p.Lys1423Asn) c.4251G>T (p.Lys1417Asn)
22	g.50722107_50722108del	CA923726106	SHANK3	c.3875_3876del (p.Gly1292AlafsTer?) n.4459_4460del c.2927_2928del (p.Gly976AlafsTer?) c.2417_2418del (p.Gly806AlafsTer?) c.2873_2874del (n.2873_2874del) c.4271_4272del (p.Gly1424AlafsTer?) c.4253_4254del (p.Gly1418AlafsTer?)
22	g.50722106G>A	CA515264448	SHANK3	c.3874G>A (p.Gly1292Arg) n.4458G>A c.2926G>A (p.Gly976Arg) c.2416G>A (p.Gly806Arg) c.2872G>A (n.2872G>A) c.4270G>A (p.Gly1424Arg) c.4252G>A (p.Gly1418Arg)	gnomAD v4 COSMIC COSMIC
22	g.50722106G>C	CA515264447	SHANK3	c.3874G>C (p.Gly1292Arg) n.4458G>C c.2926G>C (p.Gly976Arg) c.2416G>C (p.Gly806Arg) c.2872G>C (n.2872G>C) c.4270G>C (p.Gly1424Arg) c.4252G>C (p.Gly1418Arg)	dbSNP
22	g.50722106G=	CA2411008623	SHANK3	c.3874G= (p.Gly1292=) n.4458G= c.2926G= (p.Gly976=) c.2416G= (p.Gly806=) c.2872G= (n.2872G=) c.4270G= (p.Gly1424=) c.4252G= (p.Gly1418=)
22	g.50722106G>T	CA515264446	SHANK3	c.3874G>T (p.Gly1292Trp) n.4458G>T c.2926G>T (p.Gly976Trp) c.2416G>T (p.Gly806Trp) c.2872G>T (n.2872G>T) c.4270G>T (p.Gly1424Trp) c.4252G>T (p.Gly1418Trp)
22	g.50722107G>A	CA515264449	SHANK3	c.3875G>A (p.Gly1292Glu) n.4459G>A c.2927G>A (p.Gly976Glu) c.2417G>A (p.Gly806Glu) c.2873G>A (n.2873G>A) c.4271G>A (p.Gly1424Glu) c.4253G>A (p.Gly1418Glu)
22	g.50722107G>C	CA515264450	SHANK3	c.3875G>C (p.Gly1292Ala) n.4459G>C c.2927G>C (p.Gly976Ala) c.2417G>C (p.Gly806Ala) c.2873G>C (n.2873G>C) c.4271G>C (p.Gly1424Ala) c.4253G>C (p.Gly1418Ala)	gnomAD v4
22	g.50722107G>T	CA515264451	SHANK3	c.3875G>T (p.Gly1292Val) n.4459G>T c.2927G>T (p.Gly976Val) c.2417G>T (p.Gly806Val) c.2873G>T (n.2873G>T) c.4271G>T (p.Gly1424Val) c.4253G>T (p.Gly1418Val)
22	g.50722108G>A	CA10326236	SHANK3	c.3876G>A (p.Gly1292=) n.4460G>A c.2928G>A (p.Gly976=) c.2418G>A (p.Gly806=) c.2874G>A (n.2874G>A) c.4272G>A (p.Gly1424=) c.4254G>A (p.Gly1418=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722108G>C	CA515264452	SHANK3	c.3876G>C (p.Gly1292=) n.4460G>C c.2928G>C (p.Gly976=) c.2418G>C (p.Gly806=) c.2874G>C (n.2874G>C) c.4272G>C (p.Gly1424=) c.4254G>C (p.Gly1418=)
22	g.50722108G=	CA2411008624	SHANK3	c.3876G= (p.Gly1292=) n.4460G= c.2928G= (p.Gly976=) c.2418G= (p.Gly806=) c.2874G= (n.2874G=) c.4272G= (p.Gly1424=) c.4254G= (p.Gly1418=)
22	g.50722108G>T	CA515264453	SHANK3	c.3876G>T (p.Gly1292=) n.4460G>T c.2928G>T (p.Gly976=) c.2418G>T (p.Gly806=) c.2874G>T (n.2874G>T) c.4272G>T (p.Gly1424=) c.4254G>T (p.Gly1418=)
22	g.50722109C>A	CA515264454	SHANK3	c.3877C>A (p.Pro1293Thr) n.4461C>A c.2929C>A (p.Pro977Thr) c.2419C>A (p.Pro807Thr) c.2875C>A (n.2875C>A) c.4273C>A (p.Pro1425Thr) c.4255C>A (p.Pro1419Thr)
22	g.50722109C=	CA2411008625	SHANK3	c.3877C= (p.Pro1293=) n.4461C= c.2929C= (p.Pro977=) c.2419C= (p.Pro807=) c.2875C= (n.2875C=) c.4273C= (p.Pro1425=) c.4255C= (p.Pro1419=)
22	g.50722109C>G	CA515264455	SHANK3	c.3877C>G (p.Pro1293Ala) n.4461C>G c.2929C>G (p.Pro977Ala) c.2419C>G (p.Pro807Ala) c.2875C>G (n.2875C>G) c.4273C>G (p.Pro1425Ala) c.4255C>G (p.Pro1419Ala)
22	g.50722109C>T	CA515264456	SHANK3	c.3877C>T (p.Pro1293Ser) n.4461C>T c.2929C>T (p.Pro977Ser) c.2419C>T (p.Pro807Ser) c.2875C>T (n.2875C>T) c.4273C>T (p.Pro1425Ser) c.4255C>T (p.Pro1419Ser)	dbSNP gnomAD v3 gnomAD v4
22	g.50722110C>A	CA515264457	SHANK3	c.3878C>A (p.Pro1293Gln) n.4462C>A c.2930C>A (p.Pro977Gln) c.2420C>A (p.Pro807Gln) c.2876C>A (n.2876C>A) c.4274C>A (p.Pro1425Gln) c.4256C>A (p.Pro1419Gln)
22	g.50722110C=	CA2411008626	SHANK3	c.3878C= (p.Pro1293=) n.4462C= c.2930C= (p.Pro977=) c.2420C= (p.Pro807=) c.2876C= (n.2876C=) c.4274C= (p.Pro1425=) c.4256C= (p.Pro1419=)
22	g.50722110C>G	CA515264458	SHANK3	c.3878C>G (p.Pro1293Arg) n.4462C>G c.2930C>G (p.Pro977Arg) c.2420C>G (p.Pro807Arg) c.2876C>G (n.2876C>G) c.4274C>G (p.Pro1425Arg) c.4256C>G (p.Pro1419Arg)
22	g.50722110C>T	CA10326237	SHANK3	c.3878C>T (p.Pro1293Leu) n.4462C>T c.2930C>T (p.Pro977Leu) c.2420C>T (p.Pro807Leu) c.2876C>T (n.2876C>T) c.4274C>T (p.Pro1425Leu) c.4256C>T (p.Pro1419Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722111G>A	CA10326238	SHANK3	c.3879G>A (p.Pro1293=) n.4463G>A c.2931G>A (p.Pro977=) c.2421G>A (p.Pro807=) c.2877G>A (n.2877G>A) c.4275G>A (p.Pro1425=) c.4257G>A (p.Pro1419=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722111G>C	CA515264460	SHANK3	c.3879G>C (p.Pro1293=) n.4463G>C c.2931G>C (p.Pro977=) c.2421G>C (p.Pro807=) c.2877G>C (n.2877G>C) c.4275G>C (p.Pro1425=) c.4257G>C (p.Pro1419=)
22	g.50722111G=	CA2411008627	SHANK3	c.3879G= (p.Pro1293=) n.4463G= c.2931G= (p.Pro977=) c.2421G= (p.Pro807=) c.2877G= (n.2877G=) c.4275G= (p.Pro1425=) c.4257G= (p.Pro1419=)
22	g.50722111G>T	CA515264459	SHANK3	c.3879G>T (p.Pro1293=) n.4463G>T c.2931G>T (p.Pro977=) c.2421G>T (p.Pro807=) c.2877G>T (n.2877G>T) c.4275G>T (p.Pro1425=) c.4257G>T (p.Pro1419=)
22	g.50722112G>A	CA515264461	SHANK3	c.3880G>A (p.Val1294Met) n.4464G>A c.2932G>A (p.Val978Met) c.2422G>A (p.Val808Met) c.2878G>A (n.2878G>A) c.4276G>A (p.Val1426Met) c.4258G>A (p.Val1420Met)
22	g.50722112G>C	CA515264463	SHANK3	c.3880G>C (p.Val1294Leu) n.4464G>C c.2932G>C (p.Val978Leu) c.2422G>C (p.Val808Leu) c.2878G>C (n.2878G>C) c.4276G>C (p.Val1426Leu) c.4258G>C (p.Val1420Leu)
22	g.50722112G>T	CA515264462	SHANK3	c.3880G>T (p.Val1294Leu) n.4464G>T c.2932G>T (p.Val978Leu) c.2422G>T (p.Val808Leu) c.2878G>T (n.2878G>T) c.4276G>T (p.Val1426Leu) c.4258G>T (p.Val1420Leu)
22	g.50722113T>A	CA515264464	SHANK3	c.3881T>A (p.Val1294Glu) n.4465T>A c.2933T>A (p.Val978Glu) c.2423T>A (p.Val808Glu) c.2879T>A (n.2879T>A) c.4277T>A (p.Val1426Glu) c.4259T>A (p.Val1420Glu)	dbSNP
22	g.50722113T>C	CA515264466	SHANK3	c.3881T>C (p.Val1294Ala) n.4465T>C c.2933T>C (p.Val978Ala) c.2423T>C (p.Val808Ala) c.2879T>C (n.2879T>C) c.4277T>C (p.Val1426Ala) c.4259T>C (p.Val1420Ala)
22	g.50722113T>G	CA515264465	SHANK3	c.3881T>G (p.Val1294Gly) n.4465T>G c.2933T>G (p.Val978Gly) c.2423T>G (p.Val808Gly) c.2879T>G (n.2879T>G) c.4277T>G (p.Val1426Gly) c.4259T>G (p.Val1420Gly)
22	g.50722113T=	CA2411008628	SHANK3	c.3881T= (p.Val1294=) n.4465T= c.2933T= (p.Val978=) c.2423T= (p.Val808=) c.2879T= (n.2879T=) c.4277T= (p.Val1426=) c.4259T= (p.Val1420=)
22	g.50722114G>A	CA515264467	SHANK3	c.3882G>A (p.Val1294=) n.4466G>A c.2934G>A (p.Val978=) c.2424G>A (p.Val808=) c.2880G>A (n.2880G>A) c.4278G>A (p.Val1426=) c.4260G>A (p.Val1420=)
22	g.50722114G>C	CA515264468	SHANK3	c.3882G>C (p.Val1294=) n.4466G>C c.2934G>C (p.Val978=) c.2424G>C (p.Val808=) c.2880G>C (n.2880G>C) c.4278G>C (p.Val1426=) c.4260G>C (p.Val1420=)
22	g.50722114G>T	CA515264469	SHANK3	c.3882G>T (p.Val1294=) n.4466G>T c.2934G>T (p.Val978=) c.2424G>T (p.Val808=) c.2880G>T (n.2880G>T) c.4278G>T (p.Val1426=) c.4260G>T (p.Val1420=)
22	g.50722115A>C	CA515264470	SHANK3	c.3883A>C (p.Thr1295Pro) n.4467A>C c.2935A>C (p.Thr979Pro) c.2425A>C (p.Thr809Pro) c.2881A>C (n.2881A>C) c.4279A>C (p.Thr1427Pro) c.4261A>C (p.Thr1421Pro)
22	g.50722115A>G	CA515264471	SHANK3	c.3883A>G (p.Thr1295Ala) n.4467A>G c.2935A>G (p.Thr979Ala) c.2425A>G (p.Thr809Ala) c.2881A>G (n.2881A>G) c.4279A>G (p.Thr1427Ala) c.4261A>G (p.Thr1421Ala)	gnomAD v4
22	g.50722115A>T	CA515264472	SHANK3	c.3883A>T (p.Thr1295Ser) n.4467A>T c.2935A>T (p.Thr979Ser) c.2425A>T (p.Thr809Ser) c.2881A>T (n.2881A>T) c.4279A>T (p.Thr1427Ser) c.4261A>T (p.Thr1421Ser)
22	g.50722116C>A	CA515264473	SHANK3	c.3884C>A (p.Thr1295Asn) n.4468C>A c.2936C>A (p.Thr979Asn) c.2426C>A (p.Thr809Asn) c.2882C>A (n.2882C>A) c.4280C>A (p.Thr1427Asn) c.4262C>A (p.Thr1421Asn)
22	g.50722116C=	CA2411008629	SHANK3	c.3884C= (p.Thr1295=) n.4468C= c.2936C= (p.Thr979=) c.2426C= (p.Thr809=) c.2882C= (n.2882C=) c.4280C= (p.Thr1427=) c.4262C= (p.Thr1421=)
22	g.50722116C>G	CA515264474	SHANK3	c.3884C>G (p.Thr1295Ser) n.4468C>G c.2936C>G (p.Thr979Ser) c.2426C>G (p.Thr809Ser) c.2882C>G (n.2882C>G) c.4280C>G (p.Thr1427Ser) c.4262C>G (p.Thr1421Ser)
22	g.50722116C>T	CA10326239	SHANK3	c.3884C>T (p.Thr1295Ile) n.4468C>T c.2936C>T (p.Thr979Ile) c.2426C>T (p.Thr809Ile) c.2882C>T (n.2882C>T) c.4280C>T (p.Thr1427Ile) c.4262C>T (p.Thr1421Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722117C>A	CA515264475	SHANK3	c.3885C>A (p.Thr1295=) n.4469C>A c.2937C>A (p.Thr979=) c.2427C>A (p.Thr809=) c.2883C>A (n.2883C>A) c.4281C>A (p.Thr1427=) c.4263C>A (p.Thr1421=)
22	g.50722117C>G	CA515264476	SHANK3	c.3885C>G (p.Thr1295=) n.4469C>G c.2937C>G (p.Thr979=) c.2427C>G (p.Thr809=) c.2883C>G (n.2883C>G) c.4281C>G (p.Thr1427=) c.4263C>G (p.Thr1421=)
22	g.50722117C>T	CA515264477	SHANK3	c.3885C>T (p.Thr1295=) n.4469C>T c.2937C>T (p.Thr979=) c.2427C>T (p.Thr809=) c.2883C>T (n.2883C>T) c.4281C>T (p.Thr1427=) c.4263C>T (p.Thr1421=)	gnomAD v4
22	g.50722118T>A	CA515264478	SHANK3	c.3886T>A (p.Phe1296Ile) n.4470T>A c.2938T>A (p.Phe980Ile) c.2428T>A (p.Phe810Ile) c.2884T>A (n.2884T>A) c.4282T>A (p.Phe1428Ile) c.4264T>A (p.Phe1422Ile)
22	g.50722118T>C	CA515264480	SHANK3	c.3886T>C (p.Phe1296Leu) n.4470T>C c.2938T>C (p.Phe980Leu) c.2428T>C (p.Phe810Leu) c.2884T>C (n.2884T>C) c.4282T>C (p.Phe1428Leu) c.4264T>C (p.Phe1422Leu)	gnomAD v4
22	g.50722118T>G	CA515264479	SHANK3	c.3886T>G (p.Phe1296Val) n.4470T>G c.2938T>G (p.Phe980Val) c.2428T>G (p.Phe810Val) c.2884T>G (n.2884T>G) c.4282T>G (p.Phe1428Val) c.4264T>G (p.Phe1422Val)
22	g.50722119T>A	CA515264481	SHANK3	c.3887T>A (p.Phe1296Tyr) n.4471T>A c.2939T>A (p.Phe980Tyr) c.2429T>A (p.Phe810Tyr) c.2885T>A (n.2885T>A) c.4283T>A (p.Phe1428Tyr) c.4265T>A (p.Phe1422Tyr)	dbSNP gnomAD v2 gnomAD v4
22	g.50722119T>C	CA515264482	SHANK3	c.3887T>C (p.Phe1296Ser) n.4471T>C c.2939T>C (p.Phe980Ser) c.2429T>C (p.Phe810Ser) c.2885T>C (n.2885T>C) c.4283T>C (p.Phe1428Ser) c.4265T>C (p.Phe1422Ser)
22	g.50722119T>G	CA515264483	SHANK3	c.3887T>G (p.Phe1296Cys) n.4471T>G c.2939T>G (p.Phe980Cys) c.2429T>G (p.Phe810Cys) c.2885T>G (n.2885T>G) c.4283T>G (p.Phe1428Cys) c.4265T>G (p.Phe1422Cys)
22	g.50722119T=	CA2411008630	SHANK3	c.3887T= (p.Phe1296=) n.4471T= c.2939T= (p.Phe980=) c.2429T= (p.Phe810=) c.2885T= (n.2885T=) c.4283T= (p.Phe1428=) c.4265T= (p.Phe1422=)
22	g.50722120C>A	CA515264484	SHANK3	c.3888C>A (p.Phe1296Leu) n.4472C>A c.2940C>A (p.Phe980Leu) c.2430C>A (p.Phe810Leu) c.2886C>A (n.2886C>A) c.4284C>A (p.Phe1428Leu) c.4266C>A (p.Phe1422Leu)
22	g.50722120C=	CA2411008631	SHANK3	c.3888C= (p.Phe1296=) n.4472C= c.2940C= (p.Phe980=) c.2430C= (p.Phe810=) c.2886C= (n.2886C=) c.4284C= (p.Phe1428=) c.4266C= (p.Phe1422=)
22	g.50722120C>G	CA515264485	SHANK3	c.3888C>G (p.Phe1296Leu) n.4472C>G c.2940C>G (p.Phe980Leu) c.2430C>G (p.Phe810Leu) c.2886C>G (n.2886C>G) c.4284C>G (p.Phe1428Leu) c.4266C>G (p.Phe1422Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.50722120C>T	CA515264486	SHANK3	c.3888C>T (p.Phe1296=) n.4472C>T c.2940C>T (p.Phe980=) c.2430C>T (p.Phe810=) c.2886C>T (n.2886C>T) c.4284C>T (p.Phe1428=) c.4266C>T (p.Phe1422=)	dbSNP gnomAD v2 gnomAD v4
22	g.50722121A>C	CA515264487	SHANK3	c.3889A>C (p.Arg1297=) n.4473A>C c.2941A>C (p.Arg981=) c.2431A>C (p.Arg811=) c.2887A>C (n.2887A>C) c.4285A>C (p.Arg1429=) c.4267A>C (p.Arg1423=)	COSMIC COSMIC
22	g.50722121A>G	CA515264488	SHANK3	c.3889A>G (p.Arg1297Gly) n.4473A>G c.2941A>G (p.Arg981Gly) c.2431A>G (p.Arg811Gly) c.2887A>G (n.2887A>G) c.4285A>G (p.Arg1429Gly) c.4267A>G (p.Arg1423Gly)
22	g.50722121A>T	CA515264489	SHANK3	c.3889A>T (p.Arg1297Trp) n.4473A>T c.2941A>T (p.Arg981Trp) c.2431A>T (p.Arg811Trp) c.2887A>T (n.2887A>T) c.4285A>T (p.Arg1429Trp) c.4267A>T (p.Arg1423Trp)
22	g.50722122G>A	CA515264491	SHANK3	c.3890G>A (p.Arg1297Lys) n.4474G>A c.2942G>A (p.Arg981Lys) c.2432G>A (p.Arg811Lys) c.2888G>A (n.2888G>A) c.4286G>A (p.Arg1429Lys) c.4268G>A (p.Arg1423Lys)	COSMIC COSMIC
22	g.50722122G>C	CA515264492	SHANK3	c.3890G>C (p.Arg1297Thr) n.4474G>C c.2942G>C (p.Arg981Thr) c.2432G>C (p.Arg811Thr) c.2888G>C (n.2888G>C) c.4286G>C (p.Arg1429Thr) c.4268G>C (p.Arg1423Thr)
22	g.50722122G>T	CA515264490	SHANK3	c.3890G>T (p.Arg1297Met) n.4474G>T c.2942G>T (p.Arg981Met) c.2432G>T (p.Arg811Met) c.2888G>T (n.2888G>T) c.4286G>T (p.Arg1429Met) c.4268G>T (p.Arg1423Met)
22	g.50722123G>A	CA515264493	SHANK3	c.3891G>A (p.Arg1297=) n.4475G>A c.2943G>A (p.Arg981=) c.2433G>A (p.Arg811=) c.2889G>A (n.2889G>A) c.4287G>A (p.Arg1429=) c.4269G>A (p.Arg1423=)	dbSNP gnomAD v2 gnomAD v4
22	g.50722123G>C	CA515264494	SHANK3	c.3891G>C (p.Arg1297Ser) n.4475G>C c.2943G>C (p.Arg981Ser) c.2433G>C (p.Arg811Ser) c.2889G>C (n.2889G>C) c.4287G>C (p.Arg1429Ser) c.4269G>C (p.Arg1423Ser)
22	g.50722123G=	CA2411008632	SHANK3	c.3891G= (p.Arg1297=) n.4475G= c.2943G= (p.Arg981=) c.2433G= (p.Arg811=) c.2889G= (n.2889G=) c.4287G= (p.Arg1429=) c.4269G= (p.Arg1423=)
22	g.50722123G>T	CA515264495	SHANK3	c.3891G>T (p.Arg1297Ser) n.4475G>T c.2943G>T (p.Arg981Ser) c.2433G>T (p.Arg811Ser) c.2889G>T (n.2889G>T) c.4287G>T (p.Arg1429Ser) c.4269G>T (p.Arg1423Ser)	dbSNP gnomAD v2
22	g.50722124G>A	CA515264496	SHANK3	c.3892G>A (p.Asp1298Asn) n.4476G>A c.2944G>A (p.Asp982Asn) c.2434G>A (p.Asp812Asn) c.2890G>A (n.2890G>A) c.4288G>A (p.Asp1430Asn) c.4270G>A (p.Asp1424Asn)
22	g.50722124G>C	CA515264497	SHANK3	c.3892G>C (p.Asp1298His) n.4476G>C c.2944G>C (p.Asp982His) c.2434G>C (p.Asp812His) c.2890G>C (n.2890G>C) c.4288G>C (p.Asp1430His) c.4270G>C (p.Asp1424His)
22	g.50722124G=	CA2411008633	SHANK3	c.3892G= (p.Asp1298=) n.4476G= c.2944G= (p.Asp982=) c.2434G= (p.Asp812=) c.2890G= (n.2890G=) c.4288G= (p.Asp1430=) c.4270G= (p.Asp1424=)
22	g.50722124G>T	CA515264499	SHANK3	c.3892G>T (p.Asp1298Tyr) n.4476G>T c.2944G>T (p.Asp982Tyr) c.2434G>T (p.Asp812Tyr) c.2890G>T (n.2890G>T) c.4288G>T (p.Asp1430Tyr) c.4270G>T (p.Asp1424Tyr)	dbSNP gnomAD v2
22	g.50722125A>C	CA515264501	SHANK3	c.3893A>C (p.Asp1298Ala) n.4477A>C c.2945A>C (p.Asp982Ala) c.2435A>C (p.Asp812Ala) c.2891A>C (n.2891A>C) c.4289A>C (p.Asp1430Ala) c.4271A>C (p.Asp1424Ala)
22	g.50722125A>G	CA515264503	SHANK3	c.3893A>G (p.Asp1298Gly) n.4477A>G c.2945A>G (p.Asp982Gly) c.2435A>G (p.Asp812Gly) c.2891A>G (n.2891A>G) c.4289A>G (p.Asp1430Gly) c.4271A>G (p.Asp1424Gly)	COSMIC COSMIC
22	g.50722125A>T	CA515264504	SHANK3	c.3893A>T (p.Asp1298Val) n.4477A>T c.2945A>T (p.Asp982Val) c.2435A>T (p.Asp812Val) c.2891A>T (n.2891A>T) c.4289A>T (p.Asp1430Val) c.4271A>T (p.Asp1424Val)
22	g.50722126C>A	CA515264505	SHANK3	c.3894C>A (p.Asp1298Glu) n.4478C>A c.2946C>A (p.Asp982Glu) c.2436C>A (p.Asp812Glu) c.2892C>A (n.2892C>A) c.4290C>A (p.Asp1430Glu) c.4272C>A (p.Asp1424Glu)
22	g.50722126C>G	CA515264506	SHANK3	c.3894C>G (p.Asp1298Glu) n.4478C>G c.2946C>G (p.Asp982Glu) c.2436C>G (p.Asp812Glu) c.2892C>G (n.2892C>G) c.4290C>G (p.Asp1430Glu) c.4272C>G (p.Asp1424Glu)
22	g.50722126C>T	CA515264507	SHANK3	c.3894C>T (p.Asp1298=) n.4478C>T c.2946C>T (p.Asp982=) c.2436C>T (p.Asp812=) c.2892C>T (n.2892C>T) c.4290C>T (p.Asp1430=) c.4272C>T (p.Asp1424=)	gnomAD v4
22	g.50722127C>A	CA515264511	SHANK3	c.3895C>A (p.Pro1299Thr) n.4479C>A c.2947C>A (p.Pro983Thr) c.2437C>A (p.Pro813Thr) c.2893C>A (n.2893C>A) c.4291C>A (p.Pro1431Thr) c.4273C>A (p.Pro1425Thr)
22	g.50722127C=	CA2411008634	SHANK3	c.3895C= (p.Pro1299=) n.4479C= c.2947C= (p.Pro983=) c.2437C= (p.Pro813=) c.2893C= (n.2893C=) c.4291C= (p.Pro1431=) c.4273C= (p.Pro1425=)
22	g.50722127C>G	CA515264509	SHANK3	c.3895C>G (p.Pro1299Ala) n.4479C>G c.2947C>G (p.Pro983Ala) c.2437C>G (p.Pro813Ala) c.2893C>G (n.2893C>G) c.4291C>G (p.Pro1431Ala) c.4273C>G (p.Pro1425Ala)
22	g.50722127C>T	CA515264510	SHANK3	c.3895C>T (p.Pro1299Ser) n.4479C>T c.2947C>T (p.Pro983Ser) c.2437C>T (p.Pro813Ser) c.2893C>T (n.2893C>T) c.4291C>T (p.Pro1431Ser) c.4273C>T (p.Pro1425Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50722128C>A	CA515264512	SHANK3	c.3896C>A (p.Pro1299Gln) n.4480C>A c.2948C>A (p.Pro983Gln) c.2438C>A (p.Pro813Gln) c.2894C>A (n.2894C>A) c.4292C>A (p.Pro1431Gln) c.4274C>A (p.Pro1425Gln)
22	g.50722128C=	CA2411008635	SHANK3	c.3896C= (p.Pro1299=) n.4480C= c.2948C= (p.Pro983=) c.2438C= (p.Pro813=) c.2894C= (n.2894C=) c.4292C= (p.Pro1431=) c.4274C= (p.Pro1425=)
22	g.50722128C>G	CA515264514	SHANK3	c.3896C>G (p.Pro1299Arg) n.4480C>G c.2948C>G (p.Pro983Arg) c.2438C>G (p.Pro813Arg) c.2894C>G (n.2894C>G) c.4292C>G (p.Pro1431Arg) c.4274C>G (p.Pro1425Arg)	gnomAD v4
22	g.50722128C>T	CA10326240	SHANK3	c.3896C>T (p.Pro1299Leu) n.4480C>T c.2948C>T (p.Pro983Leu) c.2438C>T (p.Pro813Leu) c.2894C>T (n.2894C>T) c.4292C>T (p.Pro1431Leu) c.4274C>T (p.Pro1425Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50722129G>A	CA10326241	SHANK3	c.3897G>A (p.Pro1299=) n.4481G>A c.2949G>A (p.Pro983=) c.2439G>A (p.Pro813=) c.2895G>A (n.2895G>A) c.4293G>A (p.Pro1431=) c.4275G>A (p.Pro1425=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722129G>C	CA515264515	SHANK3	c.3897G>C (p.Pro1299=) n.4481G>C c.2949G>C (p.Pro983=) c.2439G>C (p.Pro813=) c.2895G>C (n.2895G>C) c.4293G>C (p.Pro1431=) c.4275G>C (p.Pro1425=)
22	g.50722129G=	CA2411008636	SHANK3	c.3897G= (p.Pro1299=) n.4481G= c.2949G= (p.Pro983=) c.2439G= (p.Pro813=) c.2895G= (n.2895G=) c.4293G= (p.Pro1431=) c.4275G= (p.Pro1425=)
22	g.50722129G>T	CA515264516	SHANK3	c.3897G>T (p.Pro1299=) n.4481G>T c.2949G>T (p.Pro983=) c.2439G>T (p.Pro813=) c.2895G>T (n.2895G>T) c.4293G>T (p.Pro1431=) c.4275G>T (p.Pro1425=)	dbSNP gnomAD v2
22	g.50722130C>A	CA515264517	SHANK3	c.3898C>A (p.Leu1300Met) n.4482C>A c.2950C>A (p.Leu984Met) c.2440C>A (p.Leu814Met) c.2896C>A (n.2896C>A) c.4294C>A (p.Leu1432Met) c.4276C>A (p.Leu1426Met)
22	g.50722130C>G	CA515264518	SHANK3	c.3898C>G (p.Leu1300Val) n.4482C>G c.2950C>G (p.Leu984Val) c.2440C>G (p.Leu814Val) c.2896C>G (n.2896C>G) c.4294C>G (p.Leu1432Val) c.4276C>G (p.Leu1426Val)
22	g.50722130C>T	CA515264519	SHANK3	c.3898C>T (p.Leu1300=) n.4482C>T c.2950C>T (p.Leu984=) c.2440C>T (p.Leu814=) c.2896C>T (n.2896C>T) c.4294C>T (p.Leu1432=) c.4276C>T (p.Leu1426=)
22	g.50722131T>A	CA515264520	SHANK3	c.3899T>A (p.Leu1300Gln) n.4483T>A c.2951T>A (p.Leu984Gln) c.2441T>A (p.Leu814Gln) c.2897T>A (n.2897T>A) c.4295T>A (p.Leu1432Gln) c.4277T>A (p.Leu1426Gln)
22	g.50722131T>C	CA515264521	SHANK3	c.3899T>C (p.Leu1300Pro) n.4483T>C c.2951T>C (p.Leu984Pro) c.2441T>C (p.Leu814Pro) c.2897T>C (n.2897T>C) c.4295T>C (p.Leu1432Pro) c.4277T>C (p.Leu1426Pro)
22	g.50722131T>G	CA515264522	SHANK3	c.3899T>G (p.Leu1300Arg) n.4483T>G c.2951T>G (p.Leu984Arg) c.2441T>G (p.Leu814Arg) c.2897T>G (n.2897T>G) c.4295T>G (p.Leu1432Arg) c.4277T>G (p.Leu1426Arg)
22	g.50722132G>A	CA515264525	SHANK3	c.3900G>A (p.Leu1300=) n.4484G>A c.2952G>A (p.Leu984=) c.2442G>A (p.Leu814=) c.2898G>A (n.2898G>A) c.4296G>A (p.Leu1432=) c.4278G>A (p.Leu1426=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722132G>C	CA515264524	SHANK3	c.3900G>C (p.Leu1300=) n.4484G>C c.2952G>C (p.Leu984=) c.2442G>C (p.Leu814=) c.2898G>C (n.2898G>C) c.4296G>C (p.Leu1432=) c.4278G>C (p.Leu1426=)
22	g.50722132G=	CA2411008637	SHANK3	c.3900G= (p.Leu1300=) n.4484G= c.2952G= (p.Leu984=) c.2442G= (p.Leu814=) c.2898G= (n.2898G=) c.4296G= (p.Leu1432=) c.4278G= (p.Leu1426=)
22	g.50722132G>T	CA515264523	SHANK3	c.3900G>T (p.Leu1300=) n.4484G>T c.2952G>T (p.Leu984=) c.2442G>T (p.Leu814=) c.2898G>T (n.2898G>T) c.4296G>T (p.Leu1432=) c.4278G>T (p.Leu1426=)
22	g.50722133C>A	CA515264527	SHANK3	c.3901C>A (p.Leu1301Met) n.4485C>A c.2953C>A (p.Leu985Met) c.2443C>A (p.Leu815Met) c.2899C>A (n.2899C>A) c.4297C>A (p.Leu1433Met) c.4279C>A (p.Leu1427Met)
22	g.50722133C>G	CA515264529	SHANK3	c.3901C>G (p.Leu1301Val) n.4485C>G c.2953C>G (p.Leu985Val) c.2443C>G (p.Leu815Val) c.2899C>G (n.2899C>G) c.4297C>G (p.Leu1433Val) c.4279C>G (p.Leu1427Val)
22	g.50722133C>T	CA515264531	SHANK3	c.3901C>T (p.Leu1301=) n.4485C>T c.2953C>T (p.Leu985=) c.2443C>T (p.Leu815=) c.2899C>T (n.2899C>T) c.4297C>T (p.Leu1433=) c.4279C>T (p.Leu1427=)
22	g.50722134T>A	CA515264532	SHANK3	c.3902T>A (p.Leu1301Gln) n.4486T>A c.2954T>A (p.Leu985Gln) c.2444T>A (p.Leu815Gln) c.2900T>A (n.2900T>A) c.4298T>A (p.Leu1433Gln) c.4280T>A (p.Leu1427Gln)
22	g.50722134T>C	CA515264533	SHANK3	c.3902T>C (p.Leu1301Pro) n.4486T>C c.2954T>C (p.Leu985Pro) c.2444T>C (p.Leu815Pro) c.2900T>C (n.2900T>C) c.4298T>C (p.Leu1433Pro) c.4280T>C (p.Leu1427Pro)
22	g.50722134T>G	CA515264534	SHANK3	c.3902T>G (p.Leu1301Arg) n.4486T>G c.2954T>G (p.Leu985Arg) c.2444T>G (p.Leu815Arg) c.2900T>G (n.2900T>G) c.4298T>G (p.Leu1433Arg) c.4280T>G (p.Leu1427Arg)
22	g.50722135G>A	CA10326242	SHANK3	c.3903G>A (p.Leu1301=) n.4487G>A c.2955G>A (p.Leu985=) c.2445G>A (p.Leu815=) c.2901G>A (n.2901G>A) c.4299G>A (p.Leu1433=) c.4281G>A (p.Leu1427=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722135G>C	CA515264536	SHANK3	c.3903G>C (p.Leu1301=) n.4487G>C c.2955G>C (p.Leu985=) c.2445G>C (p.Leu815=) c.2901G>C (n.2901G>C) c.4299G>C (p.Leu1433=) c.4281G>C (p.Leu1427=)
22	g.50722135G=	CA2411008638	SHANK3	c.3903G= (p.Leu1301=) n.4487G= c.2955G= (p.Leu985=) c.2445G= (p.Leu815=) c.2901G= (n.2901G=) c.4299G= (p.Leu1433=) c.4281G= (p.Leu1427=)
22	g.50722135G>T	CA515264535	SHANK3	c.3903G>T (p.Leu1301=) n.4487G>T c.2955G>T (p.Leu985=) c.2445G>T (p.Leu815=) c.2901G>T (n.2901G>T) c.4299G>T (p.Leu1433=) c.4281G>T (p.Leu1427=)
22	g.50722136A>C	CA515264537	SHANK3	c.3904A>C (p.Lys1302Gln) n.4488A>C c.2956A>C (p.Lys986Gln) c.2446A>C (p.Lys816Gln) c.2902A>C (n.2902A>C) c.4300A>C (p.Lys1434Gln) c.4282A>C (p.Lys1428Gln)
22	g.50722136A>G	CA515264539	SHANK3	c.3904A>G (p.Lys1302Glu) n.4488A>G c.2956A>G (p.Lys986Glu) c.2446A>G (p.Lys816Glu) c.2902A>G (n.2902A>G) c.4300A>G (p.Lys1434Glu) c.4282A>G (p.Lys1428Glu)
22	g.50722136A>T	CA515264541	SHANK3	c.3904A>T (p.Lys1302Ter) n.4488A>T c.2956A>T (p.Lys986Ter) c.2446A>T (p.Lys816Ter) c.2902A>T (n.2902A>T) c.4300A>T (p.Lys1434Ter) c.4282A>T (p.Lys1428Ter)
22	g.50722137A>C	CA515264543	SHANK3	c.3905A>C (p.Lys1302Thr) n.4489A>C c.2957A>C (p.Lys986Thr) c.2447A>C (p.Lys816Thr) c.2903A>C (n.2903A>C) c.4301A>C (p.Lys1434Thr) c.4283A>C (p.Lys1428Thr)
22	g.50722137A>G	CA515264544	SHANK3	c.3905A>G (p.Lys1302Arg) n.4489A>G c.2957A>G (p.Lys986Arg) c.2447A>G (p.Lys816Arg) c.2903A>G (n.2903A>G) c.4301A>G (p.Lys1434Arg) c.4283A>G (p.Lys1428Arg)
22	g.50722137A>T	CA515264545	SHANK3	c.3905A>T (p.Lys1302Met) n.4489A>T c.2957A>T (p.Lys986Met) c.2447A>T (p.Lys816Met) c.2903A>T (n.2903A>T) c.4301A>T (p.Lys1434Met) c.4283A>T (p.Lys1428Met)
22	g.50722138G>A	CA515264546	SHANK3	c.3906G>A (p.Lys1302=) n.4490G>A c.2958G>A (p.Lys986=) c.2448G>A (p.Lys816=) c.2904G>A (n.2904G>A) c.4302G>A (p.Lys1434=) c.4284G>A (p.Lys1428=)
22	g.50722138G>C	CA515264548	SHANK3	c.3906G>C (p.Lys1302Asn) n.4490G>C c.2958G>C (p.Lys986Asn) c.2448G>C (p.Lys816Asn) c.2904G>C (n.2904G>C) c.4302G>C (p.Lys1434Asn) c.4284G>C (p.Lys1428Asn)
22	g.50722138G>T	CA515264547	SHANK3	c.3906G>T (p.Lys1302Asn) n.4490G>T c.2958G>T (p.Lys986Asn) c.2448G>T (p.Lys816Asn) c.2904G>T (n.2904G>T) c.4302G>T (p.Lys1434Asn) c.4284G>T (p.Lys1428Asn)
22	g.50722139C>A	CA515264550	SHANK3	c.3907C>A (p.Gln1303Lys) n.4491C>A c.2959C>A (p.Gln987Lys) c.2449C>A (p.Gln817Lys) c.2905C>A (n.2905C>A) c.4303C>A (p.Gln1435Lys) c.4285C>A (p.Gln1429Lys)
22	g.50722139C>G	CA515264551	SHANK3	c.3907C>G (p.Gln1303Glu) n.4491C>G c.2959C>G (p.Gln987Glu) c.2449C>G (p.Gln817Glu) c.2905C>G (n.2905C>G) c.4303C>G (p.Gln1435Glu) c.4285C>G (p.Gln1429Glu)
22	g.50722139C>T	CA515264552	SHANK3	c.3907C>T (p.Gln1303Ter) n.4491C>T c.2959C>T (p.Gln987Ter) c.2449C>T (p.Gln817Ter) c.2905C>T (n.2905C>T) c.4303C>T (p.Gln1435Ter) c.4285C>T (p.Gln1429Ter)
22	g.50722140A>C	CA515264553	SHANK3	c.3908A>C (p.Gln1303Pro) n.4492A>C c.2960A>C (p.Gln987Pro) c.2450A>C (p.Gln817Pro) c.2906A>C (n.2906A>C) c.4304A>C (p.Gln1435Pro) c.4286A>C (p.Gln1429Pro)
22	g.50722140A>G	CA515264554	SHANK3	c.3908A>G (p.Gln1303Arg) n.4492A>G c.2960A>G (p.Gln987Arg) c.2450A>G (p.Gln817Arg) c.2906A>G (n.2906A>G) c.4304A>G (p.Gln1435Arg) c.4286A>G (p.Gln1429Arg)
22	g.50722140A>T	CA515264556	SHANK3	c.3908A>T (p.Gln1303Leu) n.4492A>T c.2960A>T (p.Gln987Leu) c.2450A>T (p.Gln817Leu) c.2906A>T (n.2906A>T) c.4304A>T (p.Gln1435Leu) c.4286A>T (p.Gln1429Leu)
22	g.50722141G>A	CA515264557	SHANK3	c.3909G>A (p.Gln1303=) n.4493G>A c.2961G>A (p.Gln987=) c.2451G>A (p.Gln817=) c.2907G>A (n.2907G>A) c.4305G>A (p.Gln1435=) c.4287G>A (p.Gln1429=)	gnomAD v4
22	g.50722141G>C	CA515264558	SHANK3	c.3909G>C (p.Gln1303His) n.4493G>C c.2961G>C (p.Gln987His) c.2451G>C (p.Gln817His) c.2907G>C (n.2907G>C) c.4305G>C (p.Gln1435His) c.4287G>C (p.Gln1429His)
22	g.50722141G>T	CA515264559	SHANK3	c.3909G>T (p.Gln1303His) n.4493G>T c.2961G>T (p.Gln987His) c.2451G>T (p.Gln817His) c.2907G>T (n.2907G>T) c.4305G>T (p.Gln1435His) c.4287G>T (p.Gln1429His)
22	g.50722142T>A	CA515264560	SHANK3	c.3910T>A (p.Ser1304Thr) n.4494T>A c.2962T>A (p.Ser988Thr) c.2452T>A (p.Ser818Thr) c.2908T>A (n.2908T>A) c.4306T>A (p.Ser1436Thr) c.4288T>A (p.Ser1430Thr)
22	g.50722142T>C	CA515264561	SHANK3	c.3910T>C (p.Ser1304Pro) n.4494T>C c.2962T>C (p.Ser988Pro) c.2452T>C (p.Ser818Pro) c.2908T>C (n.2908T>C) c.4306T>C (p.Ser1436Pro) c.4288T>C (p.Ser1430Pro)	gnomAD v4
22	g.50722142T>G	CA515264562	SHANK3	c.3910T>G (p.Ser1304Ala) n.4494T>G c.2962T>G (p.Ser988Ala) c.2452T>G (p.Ser818Ala) c.2908T>G (n.2908T>G) c.4306T>G (p.Ser1436Ala) c.4288T>G (p.Ser1430Ala)
22	g.50722143C>A	CA515264563	SHANK3	c.3911C>A (p.Ser1304Tyr) n.4495C>A c.2963C>A (p.Ser988Tyr) c.2453C>A (p.Ser818Tyr) c.2909C>A (n.2909C>A) c.4307C>A (p.Ser1436Tyr) c.4289C>A (p.Ser1430Tyr)	gnomAD v4
22	g.50722143C=	CA2411008639	SHANK3	c.3911C= (p.Ser1304=) n.4495C= c.2963C= (p.Ser988=) c.2453C= (p.Ser818=) c.2909C= (n.2909C=) c.4307C= (p.Ser1436=) c.4289C= (p.Ser1430=)
22	g.50722143C>G	CA515264565	SHANK3	c.3911C>G (p.Ser1304Cys) n.4495C>G c.2963C>G (p.Ser988Cys) c.2453C>G (p.Ser818Cys) c.2909C>G (n.2909C>G) c.4307C>G (p.Ser1436Cys) c.4289C>G (p.Ser1430Cys)
22	g.50722143C>T	CA325580068	SHANK3	c.3911C>T (p.Ser1304Phe) n.4495C>T c.2963C>T (p.Ser988Phe) c.2453C>T (p.Ser818Phe) c.2909C>T (n.2909C>T) c.4307C>T (p.Ser1436Phe) c.4289C>T (p.Ser1430Phe)	dbSNP gnomAD v4
22	g.50722144C>A	CA515264567	SHANK3	c.3912C>A (p.Ser1304=) n.4496C>A c.2964C>A (p.Ser988=) c.2454C>A (p.Ser818=) c.2910C>A (n.2910C>A) c.4308C>A (p.Ser1436=) c.4290C>A (p.Ser1430=)
22	g.50722144C=	CA2411008640	SHANK3	c.3912C= (p.Ser1304=) n.4496C= c.2964C= (p.Ser988=) c.2454C= (p.Ser818=) c.2910C= (n.2910C=) c.4308C= (p.Ser1436=) c.4290C= (p.Ser1430=)
22	g.50722144C>G	CA515264569	SHANK3	c.3912C>G (p.Ser1304=) n.4496C>G c.2964C>G (p.Ser988=) c.2454C>G (p.Ser818=) c.2910C>G (n.2910C>G) c.4308C>G (p.Ser1436=) c.4290C>G (p.Ser1430=)	dbSNP
22	g.50722144C>T	CA515264570	SHANK3	c.3912C>T (p.Ser1304=) n.4496C>T c.2964C>T (p.Ser988=) c.2454C>T (p.Ser818=) c.2910C>T (n.2910C>T) c.4308C>T (p.Ser1436=) c.4290C>T (p.Ser1430=)	dbSNP gnomAD v3 gnomAD v4
22	g.50722145T>A	CA515264571	SHANK3	c.3913T>A (p.Ser1305Thr) n.4497T>A c.2965T>A (p.Ser989Thr) c.2455T>A (p.Ser819Thr) c.2911T>A (n.2911T>A) c.4309T>A (p.Ser1437Thr) c.4291T>A (p.Ser1431Thr)
22	g.50722145T>C	CA515264572	SHANK3	c.3913T>C (p.Ser1305Pro) n.4497T>C c.2965T>C (p.Ser989Pro) c.2455T>C (p.Ser819Pro) c.2911T>C (n.2911T>C) c.4309T>C (p.Ser1437Pro) c.4291T>C (p.Ser1431Pro)
22	g.50722145T>G	CA515264573	SHANK3	c.3913T>G (p.Ser1305Ala) n.4497T>G c.2965T>G (p.Ser989Ala) c.2455T>G (p.Ser819Ala) c.2911T>G (n.2911T>G) c.4309T>G (p.Ser1437Ala) c.4291T>G (p.Ser1431Ala)
22	g.50722146C>A	CA515264575	SHANK3	c.3914C>A (p.Ser1305Ter) n.4498C>A c.2966C>A (p.Ser989Ter) c.2456C>A (p.Ser819Ter) c.2912C>A (n.2912C>A) c.4310C>A (p.Ser1437Ter) c.4292C>A (p.Ser1431Ter)
22	g.50722146C=	CA2411008641	SHANK3	c.3914C= (p.Ser1305=) n.4498C= c.2966C= (p.Ser989=) c.2456C= (p.Ser819=) c.2912C= (n.2912C=) c.4310C= (p.Ser1437=) c.4292C= (p.Ser1431=)
22	g.50722146C>G	CA515264576	SHANK3	c.3914C>G (p.Ser1305Trp) n.4498C>G c.2966C>G (p.Ser989Trp) c.2456C>G (p.Ser819Trp) c.2912C>G (n.2912C>G) c.4310C>G (p.Ser1437Trp) c.4292C>G (p.Ser1431Trp)	gnomAD v4
22	g.50722146C>T	CA10326243	SHANK3	c.3914C>T (p.Ser1305Leu) n.4498C>T c.2966C>T (p.Ser989Leu) c.2456C>T (p.Ser819Leu) c.2912C>T (n.2912C>T) c.4310C>T (p.Ser1437Leu) c.4292C>T (p.Ser1431Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722147G>A	CA10326244	SHANK3	c.3915G>A (p.Ser1305=) n.4499G>A c.2967G>A (p.Ser989=) c.2457G>A (p.Ser819=) c.2913G>A (n.2913G>A) c.4311G>A (p.Ser1437=) c.4293G>A (p.Ser1431=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50722147G>C	CA515264578	SHANK3	c.3915G>C (p.Ser1305=) n.4499G>C c.2967G>C (p.Ser989=) c.2457G>C (p.Ser819=) c.2913G>C (n.2913G>C) c.4311G>C (p.Ser1437=) c.4293G>C (p.Ser1431=)	gnomAD v4
22	g.50722147G=	CA2411008642	SHANK3	c.3915G= (p.Ser1305=) n.4499G= c.2967G= (p.Ser989=) c.2457G= (p.Ser819=) c.2913G= (n.2913G=) c.4311G= (p.Ser1437=) c.4293G= (p.Ser1431=)
22	g.50722147G>T	CA515264579	SHANK3	c.3915G>T (p.Ser1305=) n.4499G>T c.2967G>T (p.Ser989=) c.2457G>T (p.Ser819=) c.2913G>T (n.2913G>T) c.4311G>T (p.Ser1437=) c.4293G>T (p.Ser1431=)	dbSNP gnomAD v2 gnomAD v4
22	g.50722148G>A	CA515264583	SHANK3	c.3916G>A (p.Asp1306Asn) n.4500G>A c.2968G>A (p.Asp990Asn) c.2458G>A (p.Asp820Asn) c.2914G>A (n.2914G>A) c.4312G>A (p.Asp1438Asn) c.4294G>A (p.Asp1432Asn)
22	g.50722148G>C	CA515264581	SHANK3	c.3916G>C (p.Asp1306His) n.4500G>C c.2968G>C (p.Asp990His) c.2458G>C (p.Asp820His) c.2914G>C (n.2914G>C) c.4312G>C (p.Asp1438His) c.4294G>C (p.Asp1432His)
22	g.50722148G>T	CA515264582	SHANK3	c.3916G>T (p.Asp1306Tyr) n.4500G>T c.2968G>T (p.Asp990Tyr) c.2458G>T (p.Asp820Tyr) c.2914G>T (n.2914G>T) c.4312G>T (p.Asp1438Tyr) c.4294G>T (p.Asp1432Tyr)
22	g.50722149A>C	CA515264584	SHANK3	c.3917A>C (p.Asp1306Ala) n.4501A>C c.2969A>C (p.Asp990Ala) c.2459A>C (p.Asp820Ala) c.2915A>C (n.2915A>C) c.4313A>C (p.Asp1438Ala) c.4295A>C (p.Asp1432Ala)
22	g.50722149A>G	CA515264585	SHANK3	c.3917A>G (p.Asp1306Gly) n.4501A>G c.2969A>G (p.Asp990Gly) c.2459A>G (p.Asp820Gly) c.2915A>G (n.2915A>G) c.4313A>G (p.Asp1438Gly) c.4295A>G (p.Asp1432Gly)
22	g.50722149A>T	CA515264586	SHANK3	c.3917A>T (p.Asp1306Val) n.4501A>T c.2969A>T (p.Asp990Val) c.2459A>T (p.Asp820Val) c.2915A>T (n.2915A>T) c.4313A>T (p.Asp1438Val) c.4295A>T (p.Asp1432Val)
22	g.50722150C>A	CA515264587	SHANK3	c.3918C>A (p.Asp1306Glu) n.4502C>A c.2970C>A (p.Asp990Glu) c.2460C>A (p.Asp820Glu) c.2916C>A (n.2916C>A) c.4314C>A (p.Asp1438Glu) c.4296C>A (p.Asp1432Glu)
22	g.50722150C=	CA2411008643	SHANK3	c.3918C= (p.Asp1306=) n.4502C= c.2970C= (p.Asp990=) c.2460C= (p.Asp820=) c.2916C= (n.2916C=) c.4314C= (p.Asp1438=) c.4296C= (p.Asp1432=)
22	g.50722150C>G	CA515264588	SHANK3	c.3918C>G (p.Asp1306Glu) n.4502C>G c.2970C>G (p.Asp990Glu) c.2460C>G (p.Asp820Glu) c.2916C>G (n.2916C>G) c.4314C>G (p.Asp1438Glu) c.4296C>G (p.Asp1432Glu)
22	g.50722150C>T	CA10326245	SHANK3	c.3918C>T (p.Asp1306=) n.4502C>T c.2970C>T (p.Asp990=) c.2460C>T (p.Asp820=) c.2916C>T (n.2916C>T) c.4314C>T (p.Asp1438=) c.4296C>T (p.Asp1432=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722151A=	CA2411008644	SHANK3	c.3919A= (p.Ser1307=) n.4503A= c.2971A= (p.Ser991=) c.2461A= (p.Ser821=) c.2917A= (n.2917A=) c.4315A= (p.Ser1439=) c.4297A= (p.Ser1433=)
22	g.50722151A>C	CA515264589	SHANK3	c.3919A>C (p.Ser1307Arg) n.4503A>C c.2971A>C (p.Ser991Arg) c.2461A>C (p.Ser821Arg) c.2917A>C (n.2917A>C) c.4315A>C (p.Ser1439Arg) c.4297A>C (p.Ser1433Arg)
22	g.50722151A>G	CA10326246	SHANK3	c.3919A>G (p.Ser1307Gly) n.4503A>G c.2971A>G (p.Ser991Gly) c.2461A>G (p.Ser821Gly) c.2917A>G (n.2917A>G) c.4315A>G (p.Ser1439Gly) c.4297A>G (p.Ser1433Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722151A>T	CA515264591	SHANK3	c.3919A>T (p.Ser1307Cys) n.4503A>T c.2971A>T (p.Ser991Cys) c.2461A>T (p.Ser821Cys) c.2917A>T (n.2917A>T) c.4315A>T (p.Ser1439Cys) c.4297A>T (p.Ser1433Cys)
22	g.50722152G>A	CA10326247	SHANK3	c.3920G>A (p.Ser1307Asn) n.4504G>A c.2972G>A (p.Ser991Asn) c.2462G>A (p.Ser821Asn) c.2918G>A (n.2918G>A) c.4316G>A (p.Ser1439Asn) c.4298G>A (p.Ser1433Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722152G>C	CA10326248	SHANK3	c.3920G>C (p.Ser1307Thr) n.4504G>C c.2972G>C (p.Ser991Thr) c.2462G>C (p.Ser821Thr) c.2918G>C (n.2918G>C) c.4316G>C (p.Ser1439Thr) c.4298G>C (p.Ser1433Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722152G=	CA2411008645	SHANK3	c.3920G= (p.Ser1307=) n.4504G= c.2972G= (p.Ser991=) c.2462G= (p.Ser821=) c.2918G= (n.2918G=) c.4316G= (p.Ser1439=) c.4298G= (p.Ser1433=)
22	g.50722152G>T	CA515264592	SHANK3	c.3920G>T (p.Ser1307Ile) n.4504G>T c.2972G>T (p.Ser991Ile) c.2462G>T (p.Ser821Ile) c.2918G>T (n.2918G>T) c.4316G>T (p.Ser1439Ile) c.4298G>T (p.Ser1433Ile)
22	g.50722153C>A	CA515264593	SHANK3	c.3921C>A (p.Ser1307Arg) n.4505C>A c.2973C>A (p.Ser991Arg) c.2463C>A (p.Ser821Arg) c.2919C>A (n.2919C>A) c.4317C>A (p.Ser1439Arg) c.4299C>A (p.Ser1433Arg)	gnomAD v4
22	g.50722153C=	CA2411008646	SHANK3	c.3921C= (p.Ser1307=) n.4505C= c.2973C= (p.Ser991=) c.2463C= (p.Ser821=) c.2919C= (n.2919C=) c.4317C= (p.Ser1439=) c.4299C= (p.Ser1433=)
22	g.50722153C>G	CA515264594	SHANK3	c.3921C>G (p.Ser1307Arg) n.4505C>G c.2973C>G (p.Ser991Arg) c.2463C>G (p.Ser821Arg) c.2919C>G (n.2919C>G) c.4317C>G (p.Ser1439Arg) c.4299C>G (p.Ser1433Arg)	dbSNP gnomAD v3 gnomAD v4
22	g.50722153C>T	CA10326249	SHANK3	c.3921C>T (p.Ser1307=) n.4505C>T c.2973C>T (p.Ser991=) c.2463C>T (p.Ser821=) c.2919C>T (n.2919C>T) c.4317C>T (p.Ser1439=) c.4299C>T (p.Ser1433=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722154G>A	CA10326250	SHANK3	c.3922G>A (p.Glu1308Lys) n.4506G>A c.2974G>A (p.Glu992Lys) c.2464G>A (p.Glu822Lys) c.2920G>A (n.2920G>A) c.4318G>A (p.Glu1440Lys) c.4300G>A (p.Glu1434Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722154G>C	CA515264597	SHANK3	c.3922G>C (p.Glu1308Gln) n.4506G>C c.2974G>C (p.Glu992Gln) c.2464G>C (p.Glu822Gln) c.2920G>C (n.2920G>C) c.4318G>C (p.Glu1440Gln) c.4300G>C (p.Glu1434Gln)
22	g.50722154G=	CA2411008647	SHANK3	c.3922G= (p.Glu1308=) n.4506G= c.2974G= (p.Glu992=) c.2464G= (p.Glu822=) c.2920G= (n.2920G=) c.4318G= (p.Glu1440=) c.4300G= (p.Glu1434=)
22	g.50722154G>T	CA515264596	SHANK3	c.3922G>T (p.Glu1308Ter) n.4506G>T c.2974G>T (p.Glu992Ter) c.2464G>T (p.Glu822Ter) c.2920G>T (n.2920G>T) c.4318G>T (p.Glu1440Ter) c.4300G>T (p.Glu1434Ter)
22	g.50722155A>C	CA515264598	SHANK3	c.3923A>C (p.Glu1308Ala) n.4507A>C c.2975A>C (p.Glu992Ala) c.2465A>C (p.Glu822Ala) c.2921A>C (n.2921A>C) c.4319A>C (p.Glu1440Ala) c.4301A>C (p.Glu1434Ala)
22	g.50722155A>G	CA515264600	SHANK3	c.3923A>G (p.Glu1308Gly) n.4507A>G c.2975A>G (p.Glu992Gly) c.2465A>G (p.Glu822Gly) c.2921A>G (n.2921A>G) c.4319A>G (p.Glu1440Gly) c.4301A>G (p.Glu1434Gly)
22	g.50722155A>T	CA515264599	SHANK3	c.3923A>T (p.Glu1308Val) n.4507A>T c.2975A>T (p.Glu992Val) c.2465A>T (p.Glu822Val) c.2921A>T (n.2921A>T) c.4319A>T (p.Glu1440Val) c.4301A>T (p.Glu1434Val)
22	g.50722156G>A	CA10326251	SHANK3	c.3924G>A (p.Glu1308=) n.4508G>A c.2976G>A (p.Glu992=) c.2466G>A (p.Glu822=) c.2922G>A (n.2922G>A) c.4320G>A (p.Glu1440=) c.4302G>A (p.Glu1434=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722156G>C	CA515264603	SHANK3	c.3924G>C (p.Glu1308Asp) n.4508G>C c.2976G>C (p.Glu992Asp) c.2466G>C (p.Glu822Asp) c.2922G>C (n.2922G>C) c.4320G>C (p.Glu1440Asp) c.4302G>C (p.Glu1434Asp)
22	g.50722156G=	CA2411008648	SHANK3	c.3924G= (p.Glu1308=) n.4508G= c.2976G= (p.Glu992=) c.2466G= (p.Glu822=) c.2922G= (n.2922G=) c.4320G= (p.Glu1440=) c.4302G= (p.Glu1434=)
22	g.50722156G>T	CA515264601	SHANK3	c.3924G>T (p.Glu1308Asp) n.4508G>T c.2976G>T (p.Glu992Asp) c.2466G>T (p.Glu822Asp) c.2922G>T (n.2922G>T) c.4320G>T (p.Glu1440Asp) c.4302G>T (p.Glu1434Asp)	gnomAD v4
22	g.50722157C>A	CA515264605	SHANK3	c.3925C>A (p.Leu1309Ile) n.4509C>A c.2977C>A (p.Leu993Ile) c.2467C>A (p.Leu823Ile) c.2923C>A (n.2923C>A) c.4321C>A (p.Leu1441Ile) c.4303C>A (p.Leu1435Ile)
22	g.50722157C>G	CA515264608	SHANK3	c.3925C>G (p.Leu1309Val) n.4509C>G c.2977C>G (p.Leu993Val) c.2467C>G (p.Leu823Val) c.2923C>G (n.2923C>G) c.4321C>G (p.Leu1441Val) c.4303C>G (p.Leu1435Val)
22	g.50722157C>T	CA515264607	SHANK3	c.3925C>T (p.Leu1309Phe) n.4509C>T c.2977C>T (p.Leu993Phe) c.2467C>T (p.Leu823Phe) c.2923C>T (n.2923C>T) c.4321C>T (p.Leu1441Phe) c.4303C>T (p.Leu1435Phe)
22	g.50722158T>A	CA515264609	SHANK3	c.3926T>A (p.Leu1309His) n.4510T>A c.2978T>A (p.Leu993His) c.2468T>A (p.Leu823His) c.2924T>A (n.2924T>A) c.4322T>A (p.Leu1441His) c.4304T>A (p.Leu1435His)	dbSNP gnomAD v2
22	g.50722158T>C	CA515264611	SHANK3	c.3926T>C (p.Leu1309Pro) n.4510T>C c.2978T>C (p.Leu993Pro) c.2468T>C (p.Leu823Pro) c.2924T>C (n.2924T>C) c.4322T>C (p.Leu1441Pro) c.4304T>C (p.Leu1435Pro)
22	g.50722158T>G	CA515264610	SHANK3	c.3926T>G (p.Leu1309Arg) n.4510T>G c.2978T>G (p.Leu993Arg) c.2468T>G (p.Leu823Arg) c.2924T>G (n.2924T>G) c.4322T>G (p.Leu1441Arg) c.4304T>G (p.Leu1435Arg)
22	g.50722158T=	CA2411008649	SHANK3	c.3926T= (p.Leu1309=) n.4510T= c.2978T= (p.Leu993=) c.2468T= (p.Leu823=) c.2924T= (n.2924T=) c.4322T= (p.Leu1441=) c.4304T= (p.Leu1435=)
22	g.50722159C>A	CA515264612	SHANK3	c.3927C>A (p.Leu1309=) n.4511C>A c.2979C>A (p.Leu993=) c.2469C>A (p.Leu823=) c.2925C>A (n.2925C>A) c.4323C>A (p.Leu1441=) c.4305C>A (p.Leu1435=)
22	g.50722159C=	CA2411008650	SHANK3	c.3927C= (p.Leu1309=) n.4511C= c.2979C= (p.Leu993=) c.2469C= (p.Leu823=) c.2925C= (n.2925C=) c.4323C= (p.Leu1441=) c.4305C= (p.Leu1435=)
22	g.50722159C>G	CA515264613	SHANK3	c.3927C>G (p.Leu1309=) n.4511C>G c.2979C>G (p.Leu993=) c.2469C>G (p.Leu823=) c.2925C>G (n.2925C>G) c.4323C>G (p.Leu1441=) c.4305C>G (p.Leu1435=)
22	g.50722159C>T	CA10326252	SHANK3	c.3927C>T (p.Leu1309=) n.4511C>T c.2979C>T (p.Leu993=) c.2469C>T (p.Leu823=) c.2925C>T (n.2925C>T) c.4323C>T (p.Leu1441=) c.4305C>T (p.Leu1435=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722160A=	CA2411008651	SHANK3	c.3928A= (p.Met1310=) n.4512A= c.2980A= (p.Met994=) c.2470A= (p.Met824=) c.2926A= (n.2926A=) c.4324A= (p.Met1442=) c.4306A= (p.Met1436=)
22	g.50722160A>C	CA515264614	SHANK3	c.3928A>C (p.Met1310Leu) n.4512A>C c.2980A>C (p.Met994Leu) c.2470A>C (p.Met824Leu) c.2926A>C (n.2926A>C) c.4324A>C (p.Met1442Leu) c.4306A>C (p.Met1436Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722160A>G	CA10326253	SHANK3	c.3928A>G (p.Met1310Val) n.4512A>G c.2980A>G (p.Met994Val) c.2470A>G (p.Met824Val) c.2926A>G (n.2926A>G) c.4324A>G (p.Met1442Val) c.4306A>G (p.Met1436Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722160A>T	CA515264615	SHANK3	c.3928A>T (p.Met1310Leu) n.4512A>T c.2980A>T (p.Met994Leu) c.2470A>T (p.Met824Leu) c.2926A>T (n.2926A>T) c.4324A>T (p.Met1442Leu) c.4306A>T (p.Met1436Leu)	dbSNP gnomAD v4
22	g.50722161T>A	CA515264616	SHANK3	c.3929T>A (p.Met1310Lys) n.4513T>A c.2981T>A (p.Met994Lys) c.2471T>A (p.Met824Lys) c.2927T>A (n.2927T>A) c.4325T>A (p.Met1442Lys) c.4307T>A (p.Met1436Lys)
22	g.50722161T>C	CA10326254	SHANK3	c.3929T>C (p.Met1310Thr) n.4513T>C c.2981T>C (p.Met994Thr) c.2471T>C (p.Met824Thr) c.2927T>C (n.2927T>C) c.4325T>C (p.Met1442Thr) c.4307T>C (p.Met1436Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722161T>G	CA515264617	SHANK3	c.3929T>G (p.Met1310Arg) n.4513T>G c.2981T>G (p.Met994Arg) c.2471T>G (p.Met824Arg) c.2927T>G (n.2927T>G) c.4325T>G (p.Met1442Arg) c.4307T>G (p.Met1436Arg)
22	g.50722161T=	CA2411008652	SHANK3	c.3929T= (p.Met1310=) n.4513T= c.2981T= (p.Met994=) c.2471T= (p.Met824=) c.2927T= (n.2927T=) c.4325T= (p.Met1442=) c.4307T= (p.Met1436=)
22	g.50722162G>A	CA10326255	SHANK3	c.3930G>A (p.Met1310Ile) n.4514G>A c.2982G>A (p.Met994Ile) c.2472G>A (p.Met824Ile) c.2928G>A (n.2928G>A) c.4326G>A (p.Met1442Ile) c.4308G>A (p.Met1436Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50722162G>C	CA515264618	SHANK3	c.3930G>C (p.Met1310Ile) n.4514G>C c.2982G>C (p.Met994Ile) c.2472G>C (p.Met824Ile) c.2928G>C (n.2928G>C) c.4326G>C (p.Met1442Ile) c.4308G>C (p.Met1436Ile)
22	g.50722162G=	CA2411008653	SHANK3	c.3930G= (p.Met1310=) n.4514G= c.2982G= (p.Met994=) c.2472G= (p.Met824=) c.2928G= (n.2928G=) c.4326G= (p.Met1442=) c.4308G= (p.Met1436=)
22	g.50722162G>T	CA515264619	SHANK3	c.3930G>T (p.Met1310Ile) n.4514G>T c.2982G>T (p.Met994Ile) c.2472G>T (p.Met824Ile) c.2928G>T (n.2928G>T) c.4326G>T (p.Met1442Ile) c.4308G>T (p.Met1436Ile)
22	g.50722163G>A	CA515264623	SHANK3	c.3931G>A (p.Ala1311Thr) n.4515G>A c.2983G>A (p.Ala995Thr) c.2473G>A (p.Ala825Thr) c.2929G>A (n.2929G>A) c.4327G>A (p.Ala1443Thr) c.4309G>A (p.Ala1437Thr)
22	g.50722163G>C	CA515264621	SHANK3	c.3931G>C (p.Ala1311Pro) n.4515G>C c.2983G>C (p.Ala995Pro) c.2473G>C (p.Ala825Pro) c.2929G>C (n.2929G>C) c.4327G>C (p.Ala1443Pro) c.4309G>C (p.Ala1437Pro)
22	g.50722163G=	CA2411008654	SHANK3	c.3931G= (p.Ala1311=) n.4515G= c.2983G= (p.Ala995=) c.2473G= (p.Ala825=) c.2929G= (n.2929G=) c.4327G= (p.Ala1443=) c.4309G= (p.Ala1437=)
22	g.50722163G>T	CA515264620	SHANK3	c.3931G>T (p.Ala1311Ser) n.4515G>T c.2983G>T (p.Ala995Ser) c.2473G>T (p.Ala825Ser) c.2929G>T (n.2929G>T) c.4327G>T (p.Ala1443Ser) c.4309G>T (p.Ala1437Ser)
22	g.50722164C>A	CA515264625	SHANK3	c.3932C>A (p.Ala1311Asp) n.4516C>A c.2984C>A (p.Ala995Asp) c.2474C>A (p.Ala825Asp) c.2930C>A (n.2930C>A) c.4328C>A (p.Ala1443Asp) c.4310C>A (p.Ala1437Asp)
22	g.50722164C=	CA2411008655	SHANK3	c.3932C= (p.Ala1311=) n.4516C= c.2984C= (p.Ala995=) c.2474C= (p.Ala825=) c.2930C= (n.2930C=) c.4328C= (p.Ala1443=) c.4310C= (p.Ala1437=)
22	g.50722164C>G	CA10326256	SHANK3	c.3932C>G (p.Ala1311Gly) n.4516C>G c.2984C>G (p.Ala995Gly) c.2474C>G (p.Ala825Gly) c.2930C>G (n.2930C>G) c.4328C>G (p.Ala1443Gly) c.4310C>G (p.Ala1437Gly)	dbSNP ExAC gnomAD v2
22	g.50722164C>T	CA515264627	SHANK3	c.3932C>T (p.Ala1311Val) n.4516C>T c.2984C>T (p.Ala995Val) c.2474C>T (p.Ala825Val) c.2930C>T (n.2930C>T) c.4328C>T (p.Ala1443Val) c.4310C>T (p.Ala1437Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50722164_50722167dup	CA1139667211	SHANK3	c.3932_3935dup (p.Gln1312HisfsTer?) n.4516_4519dup c.2984_2987dup (p.Gln996HisfsTer?) c.2474_2477dup (p.Gln826HisfsTer?) c.2930_2933dup (n.2930_2933dup) c.4328_4331dup (p.Gln1444HisfsTer?) c.4310_4313dup (p.Gln1438HisfsTer?)	ClinVar dbSNP
22	g.50722165C>A	CA515264628	SHANK3	c.3933C>A (p.Ala1311=) n.4517C>A c.2985C>A (p.Ala995=) c.2475C>A (p.Ala825=) c.2931C>A (n.2931C>A) c.4329C>A (p.Ala1443=) c.4311C>A (p.Ala1437=)
22	g.50722165C=	CA2411008656	SHANK3	c.3933C= (p.Ala1311=) n.4517C= c.2985C= (p.Ala995=) c.2475C= (p.Ala825=) c.2931C= (n.2931C=) c.4329C= (p.Ala1443=) c.4311C= (p.Ala1437=)
22	g.50722165C>G	CA10326257	SHANK3	c.3933C>G (p.Ala1311=) n.4517C>G c.2985C>G (p.Ala995=) c.2475C>G (p.Ala825=) c.2931C>G (n.2931C>G) c.4329C>G (p.Ala1443=) c.4311C>G (p.Ala1437=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722165C>T	CA515264629	SHANK3	c.3933C>T (p.Ala1311=) n.4517C>T c.2985C>T (p.Ala995=) c.2475C>T (p.Ala825=) c.2931C>T (n.2931C>T) c.4329C>T (p.Ala1443=) c.4311C>T (p.Ala1437=)	ClinVar
22	g.50722166C>A	CA515264630	SHANK3	c.3934C>A (p.Gln1312Lys) n.4518C>A c.2986C>A (p.Gln996Lys) c.2476C>A (p.Gln826Lys) c.2932C>A (n.2932C>A) c.4330C>A (p.Gln1444Lys) c.4312C>A (p.Gln1438Lys)
22	g.50722166C>G	CA515264631	SHANK3	c.3934C>G (p.Gln1312Glu) n.4518C>G c.2986C>G (p.Gln996Glu) c.2476C>G (p.Gln826Glu) c.2932C>G (n.2932C>G) c.4330C>G (p.Gln1444Glu) c.4312C>G (p.Gln1438Glu)
22	g.50722166C>T	CA515264632	SHANK3	c.3934C>T (p.Gln1312Ter) n.4518C>T c.2986C>T (p.Gln996Ter) c.2476C>T (p.Gln826Ter) c.2932C>T (n.2932C>T) c.4330C>T (p.Gln1444Ter) c.4312C>T (p.Gln1438Ter)
22	g.50722167A=	CA2411008657	SHANK3	c.3935A= (p.Gln1312=) n.4519A= c.2987A= (p.Gln996=) c.2477A= (p.Gln826=) c.2933A= (n.2933A=) c.4331A= (p.Gln1444=) c.4313A= (p.Gln1438=)
22	g.50722167A>C	CA515264633	SHANK3	c.3935A>C (p.Gln1312Pro) n.4519A>C c.2987A>C (p.Gln996Pro) c.2477A>C (p.Gln826Pro) c.2933A>C (n.2933A>C) c.4331A>C (p.Gln1444Pro) c.4313A>C (p.Gln1438Pro)	gnomAD v4
22	g.50722167A>G	CA515264635	SHANK3	c.3935A>G (p.Gln1312Arg) n.4519A>G c.2987A>G (p.Gln996Arg) c.2477A>G (p.Gln826Arg) c.2933A>G (n.2933A>G) c.4331A>G (p.Gln1444Arg) c.4313A>G (p.Gln1438Arg)	dbSNP
22	g.50722167A>T	CA515264636	SHANK3	c.3935A>T (p.Gln1312Leu) n.4519A>T c.2987A>T (p.Gln996Leu) c.2477A>T (p.Gln826Leu) c.2933A>T (n.2933A>T) c.4331A>T (p.Gln1444Leu) c.4313A>T (p.Gln1438Leu)
22	g.50722168G>A	CA515264637	SHANK3	c.3936G>A (p.Gln1312=) n.4520G>A c.2988G>A (p.Gln996=) c.2478G>A (p.Gln826=) c.2934G>A (n.2934G>A) c.4332G>A (p.Gln1444=) c.4314G>A (p.Gln1438=)
22	g.50722168G>C	CA515264639	SHANK3	c.3936G>C (p.Gln1312His) n.4520G>C c.2988G>C (p.Gln996His) c.2478G>C (p.Gln826His) c.2934G>C (n.2934G>C) c.4332G>C (p.Gln1444His) c.4314G>C (p.Gln1438His)
22	g.50722168G>T	CA515264638	SHANK3	c.3936G>T (p.Gln1312His) n.4520G>T c.2988G>T (p.Gln996His) c.2478G>T (p.Gln826His) c.2934G>T (n.2934G>T) c.4332G>T (p.Gln1444His) c.4314G>T (p.Gln1438His)
22	g.50722169C>A	CA515264640	SHANK3	c.3937C>A (p.Gln1313Lys) n.4521C>A c.2989C>A (p.Gln997Lys) c.2479C>A (p.Gln827Lys) c.2935C>A (n.2935C>A) c.4333C>A (p.Gln1445Lys) c.4315C>A (p.Gln1439Lys)	dbSNP
22	g.50722169C=	CA2411008658	SHANK3	c.3937C= (p.Gln1313=) n.4521C= c.2989C= (p.Gln997=) c.2479C= (p.Gln827=) c.2935C= (n.2935C=) c.4333C= (p.Gln1445=) c.4315C= (p.Gln1439=)
22	g.50722169C>G	CA515264641	SHANK3	c.3937C>G (p.Gln1313Glu) n.4521C>G c.2989C>G (p.Gln997Glu) c.2479C>G (p.Gln827Glu) c.2935C>G (n.2935C>G) c.4333C>G (p.Gln1445Glu) c.4315C>G (p.Gln1439Glu)
22	g.50722169C>T	CA515264642	SHANK3	c.3937C>T (p.Gln1313Ter) n.4521C>T c.2989C>T (p.Gln997Ter) c.2479C>T (p.Gln827Ter) c.2935C>T (n.2935C>T) c.4333C>T (p.Gln1445Ter) c.4315C>T (p.Gln1439Ter)	dbSNP gnomAD v2
22	g.50722170A>C	CA515264643	SHANK3	c.3938A>C (p.Gln1313Pro) n.4522A>C c.2990A>C (p.Gln997Pro) c.2480A>C (p.Gln827Pro) c.2936A>C (n.2936A>C) c.4334A>C (p.Gln1445Pro) c.4316A>C (p.Gln1439Pro)
22	g.50722170A>G	CA515264644	SHANK3	c.3938A>G (p.Gln1313Arg) n.4522A>G c.2990A>G (p.Gln997Arg) c.2480A>G (p.Gln827Arg) c.2936A>G (n.2936A>G) c.4334A>G (p.Gln1445Arg) c.4316A>G (p.Gln1439Arg)
22	g.50722170A>T	CA515264646	SHANK3	c.3938A>T (p.Gln1313Leu) n.4522A>T c.2990A>T (p.Gln997Leu) c.2480A>T (p.Gln827Leu) c.2936A>T (n.2936A>T) c.4334A>T (p.Gln1445Leu) c.4316A>T (p.Gln1439Leu)
22	g.50722171G>A	CA515264649	SHANK3	c.3939G>A (p.Gln1313=) n.4523G>A c.2991G>A (p.Gln997=) c.2481G>A (p.Gln827=) c.2937G>A (n.2937G>A) c.4335G>A (p.Gln1445=) c.4317G>A (p.Gln1439=)	COSMIC COSMIC
22	g.50722171G>C	CA515264650	SHANK3	c.3939G>C (p.Gln1313His) n.4523G>C c.2991G>C (p.Gln997His) c.2481G>C (p.Gln827His) c.2937G>C (n.2937G>C) c.4335G>C (p.Gln1445His) c.4317G>C (p.Gln1439His)	ClinVar dbSNP
22	g.50722171G>T	CA515264651	SHANK3	c.3939G>T (p.Gln1313His) n.4523G>T c.2991G>T (p.Gln997His) c.2481G>T (p.Gln827His) c.2937G>T (n.2937G>T) c.4335G>T (p.Gln1445His) c.4317G>T (p.Gln1439His)	dbSNP
22	g.50722172C>A	CA515264652	SHANK3	c.3940C>A (p.His1314Asn) n.4524C>A c.2992C>A (p.His998Asn) c.2482C>A (p.His828Asn) c.2938C>A (n.2938C>A) c.4336C>A (p.His1446Asn) c.4318C>A (p.His1440Asn)	gnomAD v4
22	g.50722172C>G	CA515264653	SHANK3	c.3940C>G (p.His1314Asp) n.4524C>G c.2992C>G (p.His998Asp) c.2482C>G (p.His828Asp) c.2938C>G (n.2938C>G) c.4336C>G (p.His1446Asp) c.4318C>G (p.His1440Asp)
22	g.50722172C>T	CA515264654	SHANK3	c.3940C>T (p.His1314Tyr) n.4524C>T c.2992C>T (p.His998Tyr) c.2482C>T (p.His828Tyr) c.2938C>T (n.2938C>T) c.4336C>T (p.His1446Tyr) c.4318C>T (p.His1440Tyr)
22	g.50722173A>C	CA515264655	SHANK3	c.3941A>C (p.His1314Pro) n.4525A>C c.2993A>C (p.His998Pro) c.2483A>C (p.His828Pro) c.2939A>C (n.2939A>C) c.4337A>C (p.His1446Pro) c.4319A>C (p.His1440Pro)
22	g.50722173A>G	CA515264657	SHANK3	c.3941A>G (p.His1314Arg) n.4525A>G c.2993A>G (p.His998Arg) c.2483A>G (p.His828Arg) c.2939A>G (n.2939A>G) c.4337A>G (p.His1446Arg) c.4319A>G (p.His1440Arg)
22	g.50722173A>T	CA515264656	SHANK3	c.3941A>T (p.His1314Leu) n.4525A>T c.2993A>T (p.His998Leu) c.2483A>T (p.His828Leu) c.2939A>T (n.2939A>T) c.4337A>T (p.His1446Leu) c.4319A>T (p.His1440Leu)
22	g.50722174C>A	CA515264659	SHANK3	c.3942C>A (p.His1314Gln) n.4526C>A c.2994C>A (p.His998Gln) c.2484C>A (p.His828Gln) c.2940C>A (n.2940C>A) c.4338C>A (p.His1446Gln) c.4320C>A (p.His1440Gln)
22	g.50722174C=	CA2411008659	SHANK3	c.3942C= (p.His1314=) n.4526C= c.2994C= (p.His998=) c.2484C= (p.His828=) c.2940C= (n.2940C=) c.4338C= (p.His1446=) c.4320C= (p.His1440=)
22	g.50722174C>G	CA10326258	SHANK3	c.3942C>G (p.His1314Gln) n.4526C>G c.2994C>G (p.His998Gln) c.2484C>G (p.His828Gln) c.2940C>G (n.2940C>G) c.4338C>G (p.His1446Gln) c.4320C>G (p.His1440Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722174C>T	CA10326259	SHANK3	c.3942C>T (p.His1314=) n.4526C>T c.2994C>T (p.His998=) c.2484C>T (p.His828=) c.2940C>T (n.2940C>T) c.4338C>T (p.His1446=) c.4320C>T (p.His1440=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50722175C>A	CA515264660	SHANK3	c.3943C>A (p.His1315Asn) n.4527C>A c.2995C>A (p.His999Asn) c.2485C>A (p.His829Asn) c.2941C>A (n.2941C>A) c.4339C>A (p.His1447Asn) c.4321C>A (p.His1441Asn)
22	g.50722175C>G	CA515264661	SHANK3	c.3943C>G (p.His1315Asp) n.4527C>G c.2995C>G (p.His999Asp) c.2485C>G (p.His829Asp) c.2941C>G (n.2941C>G) c.4339C>G (p.His1447Asp) c.4321C>G (p.His1441Asp)
22	g.50722175C>T	CA515264662	SHANK3	c.3943C>T (p.His1315Tyr) n.4527C>T c.2995C>T (p.His999Tyr) c.2485C>T (p.His829Tyr) c.2941C>T (n.2941C>T) c.4339C>T (p.His1447Tyr) c.4321C>T (p.His1441Tyr)
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

Number of alleles fetched