Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.50721712C>A	CA515263275	SHANK3	c.3480C>A (p.Ser1160Arg) n.4064C>A c.2532C>A (p.Ser844Arg) c.2022C>A (p.Ser674Arg) c.2478C>A (n.2478C>A) c.3876C>A (p.Ser1292Arg) c.3858C>A (p.Ser1286Arg)
22	g.50721712C=	CA2411008411	SHANK3	c.3480C= (p.Ser1160=) n.4064C= c.2532C= (p.Ser844=) c.2022C= (p.Ser674=) c.2478C= (n.2478C=) c.3876C= (p.Ser1292=) c.3858C= (p.Ser1286=)
22	g.50721712C>G	CA515263276	SHANK3	c.3480C>G (p.Ser1160Arg) n.4064C>G c.2532C>G (p.Ser844Arg) c.2022C>G (p.Ser674Arg) c.2478C>G (n.2478C>G) c.3876C>G (p.Ser1292Arg) c.3858C>G (p.Ser1286Arg)
22	g.50721712C>T	CA10326166	SHANK3	c.3480C>T (p.Ser1160=) n.4064C>T c.2532C>T (p.Ser844=) c.2022C>T (p.Ser674=) c.2478C>T (n.2478C>T) c.3876C>T (p.Ser1292=) c.3858C>T (p.Ser1286=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721713G>A	CA515263277	SHANK3	c.3481G>A (p.Asp1161Asn) n.4065G>A c.2533G>A (p.Asp845Asn) c.2023G>A (p.Asp675Asn) c.2479G>A (n.2479G>A) c.3877G>A (p.Asp1293Asn) c.3859G>A (p.Asp1287Asn)	dbSNP gnomAD v2
22	g.50721713G>C	CA515263278	SHANK3	c.3481G>C (p.Asp1161His) n.4065G>C c.2533G>C (p.Asp845His) c.2023G>C (p.Asp675His) c.2479G>C (n.2479G>C) c.3877G>C (p.Asp1293His) c.3859G>C (p.Asp1287His)	ClinVar
22	g.50721713G=	CA2411008412	SHANK3	c.3481G= (p.Asp1161=) n.4065G= c.2533G= (p.Asp845=) c.2023G= (p.Asp675=) c.2479G= (n.2479G=) c.3877G= (p.Asp1293=) c.3859G= (p.Asp1287=)
22	g.50721713G>T	CA515263279	SHANK3	c.3481G>T (p.Asp1161Tyr) n.4065G>T c.2533G>T (p.Asp845Tyr) c.2023G>T (p.Asp675Tyr) c.2479G>T (n.2479G>T) c.3877G>T (p.Asp1293Tyr) c.3859G>T (p.Asp1287Tyr)
22	g.50721714A>C	CA515263280	SHANK3	c.3482A>C (p.Asp1161Ala) n.4066A>C c.2534A>C (p.Asp845Ala) c.2024A>C (p.Asp675Ala) c.2480A>C (n.2480A>C) c.3878A>C (p.Asp1293Ala) c.3860A>C (p.Asp1287Ala)
22	g.50721714A>G	CA515263282	SHANK3	c.3482A>G (p.Asp1161Gly) n.4066A>G c.2534A>G (p.Asp845Gly) c.2024A>G (p.Asp675Gly) c.2480A>G (n.2480A>G) c.3878A>G (p.Asp1293Gly) c.3860A>G (p.Asp1287Gly)
22	g.50721714A>T	CA515263281	SHANK3	c.3482A>T (p.Asp1161Val) n.4066A>T c.2534A>T (p.Asp845Val) c.2024A>T (p.Asp675Val) c.2480A>T (n.2480A>T) c.3878A>T (p.Asp1293Val) c.3860A>T (p.Asp1287Val)
22	g.50721715T>A	CA515263283	SHANK3	c.3483T>A (p.Asp1161Glu) n.4067T>A c.2535T>A (p.Asp845Glu) c.2025T>A (p.Asp675Glu) c.2481T>A (n.2481T>A) c.3879T>A (p.Asp1293Glu) c.3861T>A (p.Asp1287Glu)
22	g.50721715T>C	CA515263284	SHANK3	c.3483T>C (p.Asp1161=) n.4067T>C c.2535T>C (p.Asp845=) c.2025T>C (p.Asp675=) c.2481T>C (n.2481T>C) c.3879T>C (p.Asp1293=) c.3861T>C (p.Asp1287=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721715T>G	CA515263285	SHANK3	c.3483T>G (p.Asp1161Glu) n.4067T>G c.2535T>G (p.Asp845Glu) c.2025T>G (p.Asp675Glu) c.2481T>G (n.2481T>G) c.3879T>G (p.Asp1293Glu) c.3861T>G (p.Asp1287Glu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721715T=	CA2411008415	SHANK3	c.3483T= (p.Asp1161=) n.4067T= c.2535T= (p.Asp845=) c.2025T= (p.Asp675=) c.2481T= (n.2481T=) c.3879T= (p.Asp1293=) c.3861T= (p.Asp1287=)
22	g.50721715_50721716delinsTG	CA2411008414	SHANK3	c.3483_3484delinsTG (p.Asp1161=) n.4067_4068delinsTG c.2535_2536delinsTG (p.Asp845=) c.2025_2026delinsTG (p.Asp675=) c.2481_2482delinsTG (n.2481_2482delinsTG) c.3879_3880delinsTG (p.Asp1293=) c.3861_3862delinsTG (p.Asp1287=)
22	g.50721715_50721718delinsTGAG	CA2411008413	SHANK3	c.3483_3486delinsTGAG (p.Asp1161=) n.4067_4070delinsTGAG c.2535_2538delinsTGAG (p.Asp845=) c.2025_2028delinsTGAG (p.Asp675=) c.2481_2484delinsTGAG (n.2481_2484delinsTGAG) c.3879_3882delinsTGAG (p.Asp1293=) c.3861_3864delinsTGAG (p.Asp1287=)
22	g.50721716del	CA16616763	SHANK3	c.3484del (p.Glu1162ArgfsTer?) n.4068del c.2536del (p.Glu846ArgfsTer?) c.2026del (p.Glu676ArgfsTer?) c.2482del (n.2482del) c.3880del (p.Glu1294ArgfsTer?) c.3862del (p.Glu1288ArgfsTer?)	ClinVar dbSNP
22	g.50721716G>A	CA515263286	SHANK3	c.3484G>A (p.Glu1162Lys) n.4068G>A c.2536G>A (p.Glu846Lys) c.2026G>A (p.Glu676Lys) c.2482G>A (n.2482G>A) c.3880G>A (p.Glu1294Lys) c.3862G>A (p.Glu1288Lys)	dbSNP gnomAD v2
22	g.50721716G>C	CA515263287	SHANK3	c.3484G>C (p.Glu1162Gln) n.4068G>C c.2536G>C (p.Glu846Gln) c.2026G>C (p.Glu676Gln) c.2482G>C (n.2482G>C) c.3880G>C (p.Glu1294Gln) c.3862G>C (p.Glu1288Gln)
22	g.50721716G=	CA2411008416	SHANK3	c.3484G= (p.Glu1162=) n.4068G= c.2536G= (p.Glu846=) c.2026G= (p.Glu676=) c.2482G= (n.2482G=) c.3880G= (p.Glu1294=) c.3862G= (p.Glu1288=)
22	g.50721716G>T	CA515263288	SHANK3	c.3484G>T (p.Glu1162Ter) n.4068G>T c.2536G>T (p.Glu846Ter) c.2026G>T (p.Glu676Ter) c.2482G>T (n.2482G>T) c.3880G>T (p.Glu1294Ter) c.3862G>T (p.Glu1288Ter)
22	g.50721719_50721721del	CA640359040	SHANK3	c.3487_3489del (p.Glu1163del) n.4071_4073del c.2539_2541del (p.Glu847del) c.2029_2031del (p.Glu677del) c.2485_2487del (n.2485_2487del) c.3883_3885del (p.Glu1295del) c.3865_3867del (p.Glu1289del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721717A>C	CA515263289	SHANK3	c.3485A>C (p.Glu1162Ala) n.4069A>C c.2537A>C (p.Glu846Ala) c.2027A>C (p.Glu676Ala) c.2483A>C (n.2483A>C) c.3881A>C (p.Glu1294Ala) c.3863A>C (p.Glu1288Ala)
22	g.50721717A>G	CA515263290	SHANK3	c.3485A>G (p.Glu1162Gly) n.4069A>G c.2537A>G (p.Glu846Gly) c.2027A>G (p.Glu676Gly) c.2483A>G (n.2483A>G) c.3881A>G (p.Glu1294Gly) c.3863A>G (p.Glu1288Gly)
22	g.50721717A>T	CA515263291	SHANK3	c.3485A>T (p.Glu1162Val) n.4069A>T c.2537A>T (p.Glu846Val) c.2027A>T (p.Glu676Val) c.2483A>T (n.2483A>T) c.3881A>T (p.Glu1294Val) c.3863A>T (p.Glu1288Val)
22	g.50721718G>A	CA10326167	SHANK3	c.3486G>A (p.Glu1162=) n.4070G>A c.2538G>A (p.Glu846=) c.2028G>A (p.Glu676=) c.2484G>A (n.2484G>A) c.3882G>A (p.Glu1294=) c.3864G>A (p.Glu1288=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721718G>C	CA515263292	SHANK3	c.3486G>C (p.Glu1162Asp) n.4070G>C c.2538G>C (p.Glu846Asp) c.2028G>C (p.Glu676Asp) c.2484G>C (n.2484G>C) c.3882G>C (p.Glu1294Asp) c.3864G>C (p.Glu1288Asp)
22	g.50721718G=	CA2411008417	SHANK3	c.3486G= (p.Glu1162=) n.4070G= c.2538G= (p.Glu846=) c.2028G= (p.Glu676=) c.2484G= (n.2484G=) c.3882G= (p.Glu1294=) c.3864G= (p.Glu1288=)
22	g.50721718G>T	CA515263293	SHANK3	c.3486G>T (p.Glu1162Asp) n.4070G>T c.2538G>T (p.Glu846Asp) c.2028G>T (p.Glu676Asp) c.2484G>T (n.2484G>T) c.3882G>T (p.Glu1294Asp) c.3864G>T (p.Glu1288Asp)
22	g.50721719G>A	CA10326168	SHANK3	c.3487G>A (p.Glu1163Lys) n.4071G>A c.2539G>A (p.Glu847Lys) c.2029G>A (p.Glu677Lys) c.2485G>A (n.2485G>A) c.3883G>A (p.Glu1295Lys) c.3865G>A (p.Glu1289Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721719G>C	CA515263295	SHANK3	c.3487G>C (p.Glu1163Gln) n.4071G>C c.2539G>C (p.Glu847Gln) c.2029G>C (p.Glu677Gln) c.2485G>C (n.2485G>C) c.3883G>C (p.Glu1295Gln) c.3865G>C (p.Glu1289Gln)
22	g.50721719G=	CA2411008418	SHANK3	c.3487G= (p.Glu1163=) n.4071G= c.2539G= (p.Glu847=) c.2029G= (p.Glu677=) c.2485G= (n.2485G=) c.3883G= (p.Glu1295=) c.3865G= (p.Glu1289=)
22	g.50721719G>T	CA515263294	SHANK3	c.3487G>T (p.Glu1163Ter) n.4071G>T c.2539G>T (p.Glu847Ter) c.2029G>T (p.Glu677Ter) c.2485G>T (n.2485G>T) c.3883G>T (p.Glu1295Ter) c.3865G>T (p.Glu1289Ter)
22	g.50721720A>C	CA515263296	SHANK3	c.3488A>C (p.Glu1163Ala) n.4072A>C c.2540A>C (p.Glu847Ala) c.2030A>C (p.Glu677Ala) c.2486A>C (n.2486A>C) c.3884A>C (p.Glu1295Ala) c.3866A>C (p.Glu1289Ala)
22	g.50721720A>G	CA515263297	SHANK3	c.3488A>G (p.Glu1163Gly) n.4072A>G c.2540A>G (p.Glu847Gly) c.2030A>G (p.Glu677Gly) c.2486A>G (n.2486A>G) c.3884A>G (p.Glu1295Gly) c.3866A>G (p.Glu1289Gly)	gnomAD v4
22	g.50721720A>T	CA515263298	SHANK3	c.3488A>T (p.Glu1163Val) n.4072A>T c.2540A>T (p.Glu847Val) c.2030A>T (p.Glu677Val) c.2486A>T (n.2486A>T) c.3884A>T (p.Glu1295Val) c.3866A>T (p.Glu1289Val)
22	g.50721721G>A	CA515263299	SHANK3	c.3489G>A (p.Glu1163=) n.4073G>A c.2541G>A (p.Glu847=) c.2031G>A (p.Glu677=) c.2487G>A (n.2487G>A) c.3885G>A (p.Glu1295=) c.3867G>A (p.Glu1289=)	dbSNP gnomAD v2
22	g.50721721G>C	CA515263300	SHANK3	c.3489G>C (p.Glu1163Asp) n.4073G>C c.2541G>C (p.Glu847Asp) c.2031G>C (p.Glu677Asp) c.2487G>C (n.2487G>C) c.3885G>C (p.Glu1295Asp) c.3867G>C (p.Glu1289Asp)
22	g.50721721G=	CA2411008419	SHANK3	c.3489G= (p.Glu1163=) n.4073G= c.2541G= (p.Glu847=) c.2031G= (p.Glu677=) c.2487G= (n.2487G=) c.3885G= (p.Glu1295=) c.3867G= (p.Glu1289=)
22	g.50721721G>T	CA515263301	SHANK3	c.3489G>T (p.Glu1163Asp) n.4073G>T c.2541G>T (p.Glu847Asp) c.2031G>T (p.Glu677Asp) c.2487G>T (n.2487G>T) c.3885G>T (p.Glu1295Asp) c.3867G>T (p.Glu1289Asp)
22	g.50721722A>C	CA515263302	SHANK3	c.3490A>C (p.Thr1164Pro) n.4074A>C c.2542A>C (p.Thr848Pro) c.2032A>C (p.Thr678Pro) c.2488A>C (n.2488A>C) c.3886A>C (p.Thr1296Pro) c.3868A>C (p.Thr1290Pro)
22	g.50721722A>G	CA515263303	SHANK3	c.3490A>G (p.Thr1164Ala) n.4074A>G c.2542A>G (p.Thr848Ala) c.2032A>G (p.Thr678Ala) c.2488A>G (n.2488A>G) c.3886A>G (p.Thr1296Ala) c.3868A>G (p.Thr1290Ala)
22	g.50721722A>T	CA515263304	SHANK3	c.3490A>T (p.Thr1164Ser) n.4074A>T c.2542A>T (p.Thr848Ser) c.2032A>T (p.Thr678Ser) c.2488A>T (n.2488A>T) c.3886A>T (p.Thr1296Ser) c.3868A>T (p.Thr1290Ser)
22	g.50721723C>A	CA515263305	SHANK3	c.3491C>A (p.Thr1164Asn) n.4075C>A c.2543C>A (p.Thr848Asn) c.2033C>A (p.Thr678Asn) c.2489C>A (n.2489C>A) c.3887C>A (p.Thr1296Asn) c.3869C>A (p.Thr1290Asn)
22	g.50721723C>G	CA515263306	SHANK3	c.3491C>G (p.Thr1164Ser) n.4075C>G c.2543C>G (p.Thr848Ser) c.2033C>G (p.Thr678Ser) c.2489C>G (n.2489C>G) c.3887C>G (p.Thr1296Ser) c.3869C>G (p.Thr1290Ser)	gnomAD v4
22	g.50721723C>T	CA515263307	SHANK3	c.3491C>T (p.Thr1164Ile) n.4075C>T c.2543C>T (p.Thr848Ile) c.2033C>T (p.Thr678Ile) c.2489C>T (n.2489C>T) c.3887C>T (p.Thr1296Ile) c.3869C>T (p.Thr1290Ile)
22	g.50721724C>A	CA515263309	SHANK3	c.3492C>A (p.Thr1164=) n.4076C>A c.2544C>A (p.Thr848=) c.2034C>A (p.Thr678=) c.2490C>A (n.2490C>A) c.3888C>A (p.Thr1296=) c.3870C>A (p.Thr1290=)
22	g.50721724C=	CA2411008420	SHANK3	c.3492C= (p.Thr1164=) n.4076C= c.2544C= (p.Thr848=) c.2034C= (p.Thr678=) c.2490C= (n.2490C=) c.3888C= (p.Thr1296=) c.3870C= (p.Thr1290=)
22	g.50721724C>G	CA515263308	SHANK3	c.3492C>G (p.Thr1164=) n.4076C>G c.2544C>G (p.Thr848=) c.2034C>G (p.Thr678=) c.2490C>G (n.2490C>G) c.3888C>G (p.Thr1296=) c.3870C>G (p.Thr1290=)
22	g.50721724C>T	CA10326169	SHANK3	c.3492C>T (p.Thr1164=) n.4076C>T c.2544C>T (p.Thr848=) c.2034C>T (p.Thr678=) c.2490C>T (n.2490C>T) c.3888C>T (p.Thr1296=) c.3870C>T (p.Thr1290=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22	g.50721725A>C	CA515263310	SHANK3	c.3493A>C (p.Arg1165=) n.4077A>C c.2545A>C (p.Arg849=) c.2035A>C (p.Arg679=) c.2491A>C (n.2491A>C) c.3889A>C (p.Arg1297=) c.3871A>C (p.Arg1291=)
22	g.50721725A>G	CA515263311	SHANK3	c.3493A>G (p.Arg1165Gly) n.4077A>G c.2545A>G (p.Arg849Gly) c.2035A>G (p.Arg679Gly) c.2491A>G (n.2491A>G) c.3889A>G (p.Arg1297Gly) c.3871A>G (p.Arg1291Gly)	COSMIC COSMIC
22	g.50721725A>T	CA515263312	SHANK3	c.3493A>T (p.Arg1165Trp) n.4077A>T c.2545A>T (p.Arg849Trp) c.2035A>T (p.Arg679Trp) c.2491A>T (n.2491A>T) c.3889A>T (p.Arg1297Trp) c.3871A>T (p.Arg1291Trp)
22	g.50721726G>A	CA10326170	SHANK3	c.3494G>A (p.Arg1165Lys) n.4078G>A c.2546G>A (p.Arg849Lys) c.2036G>A (p.Arg679Lys) c.2492G>A (n.2492G>A) c.3890G>A (p.Arg1297Lys) c.3872G>A (p.Arg1291Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721726G>C	CA515263313	SHANK3	c.3494G>C (p.Arg1165Thr) n.4078G>C c.2546G>C (p.Arg849Thr) c.2036G>C (p.Arg679Thr) c.2492G>C (n.2492G>C) c.3890G>C (p.Arg1297Thr) c.3872G>C (p.Arg1291Thr)
22	g.50721726G=	CA2411008421	SHANK3	c.3494G= (p.Arg1165=) n.4078G= c.2546G= (p.Arg849=) c.2036G= (p.Arg679=) c.2492G= (n.2492G=) c.3890G= (p.Arg1297=) c.3872G= (p.Arg1291=)
22	g.50721726G>T	CA515263314	SHANK3	c.3494G>T (p.Arg1165Met) n.4078G>T c.2546G>T (p.Arg849Met) c.2036G>T (p.Arg679Met) c.2492G>T (n.2492G>T) c.3890G>T (p.Arg1297Met) c.3872G>T (p.Arg1291Met)
22	g.50721727G>A	CA515263315	SHANK3	c.3495G>A (p.Arg1165=) n.4079G>A c.2547G>A (p.Arg849=) c.2037G>A (p.Arg679=) c.2493G>A (n.2493G>A) c.3891G>A (p.Arg1297=) c.3873G>A (p.Arg1291=)
22	g.50721727G>C	CA515263316	SHANK3	c.3495G>C (p.Arg1165Ser) n.4079G>C c.2547G>C (p.Arg849Ser) c.2037G>C (p.Arg679Ser) c.2493G>C (n.2493G>C) c.3891G>C (p.Arg1297Ser) c.3873G>C (p.Arg1291Ser)
22	g.50721727G>T	CA515263317	SHANK3	c.3495G>T (p.Arg1165Ser) n.4079G>T c.2547G>T (p.Arg849Ser) c.2037G>T (p.Arg679Ser) c.2493G>T (n.2493G>T) c.3891G>T (p.Arg1297Ser) c.3873G>T (p.Arg1291Ser)
22	g.50721728G>A	CA515263318	SHANK3	c.3496G>A (p.Glu1166Lys) n.4080G>A c.2548G>A (p.Glu850Lys) c.2038G>A (p.Glu680Lys) c.2494G>A (n.2494G>A) c.3892G>A (p.Glu1298Lys) c.3874G>A (p.Glu1292Lys)
22	g.50721728G>C	CA515263319	SHANK3	c.3496G>C (p.Glu1166Gln) n.4080G>C c.2548G>C (p.Glu850Gln) c.2038G>C (p.Glu680Gln) c.2494G>C (n.2494G>C) c.3892G>C (p.Glu1298Gln) c.3874G>C (p.Glu1292Gln)
22	g.50721728G>T	CA515263320	SHANK3	c.3496G>T (p.Glu1166Ter) n.4080G>T c.2548G>T (p.Glu850Ter) c.2038G>T (p.Glu680Ter) c.2494G>T (n.2494G>T) c.3892G>T (p.Glu1298Ter) c.3874G>T (p.Glu1292Ter)	gnomAD v4
22	g.50721729A>C	CA515263321	SHANK3	c.3497A>C (p.Glu1166Ala) n.4081A>C c.2549A>C (p.Glu850Ala) c.2039A>C (p.Glu680Ala) c.2495A>C (n.2495A>C) c.3893A>C (p.Glu1298Ala) c.3875A>C (p.Glu1292Ala)	gnomAD v4
22	g.50721729A>G	CA515263323	SHANK3	c.3497A>G (p.Glu1166Gly) n.4081A>G c.2549A>G (p.Glu850Gly) c.2039A>G (p.Glu680Gly) c.2495A>G (n.2495A>G) c.3893A>G (p.Glu1298Gly) c.3875A>G (p.Glu1292Gly)
22	g.50721729A>T	CA515263322	SHANK3	c.3497A>T (p.Glu1166Val) n.4081A>T c.2549A>T (p.Glu850Val) c.2039A>T (p.Glu680Val) c.2495A>T (n.2495A>T) c.3893A>T (p.Glu1298Val) c.3875A>T (p.Glu1292Val)
22	g.50721730G>A	CA515263324	SHANK3	c.3498G>A (p.Glu1166=) n.4082G>A c.2550G>A (p.Glu850=) c.2040G>A (p.Glu680=) c.2496G>A (n.2496G>A) c.3894G>A (p.Glu1298=) c.3876G>A (p.Glu1292=)
22	g.50721730G>C	CA515263326	SHANK3	c.3498G>C (p.Glu1166Asp) n.4082G>C c.2550G>C (p.Glu850Asp) c.2040G>C (p.Glu680Asp) c.2496G>C (n.2496G>C) c.3894G>C (p.Glu1298Asp) c.3876G>C (p.Glu1292Asp)
22	g.50721730G>T	CA515263325	SHANK3	c.3498G>T (p.Glu1166Asp) n.4082G>T c.2550G>T (p.Glu850Asp) c.2040G>T (p.Glu680Asp) c.2496G>T (n.2496G>T) c.3894G>T (p.Glu1298Asp) c.3876G>T (p.Glu1292Asp)
22	g.50721731G>A	CA515263327	SHANK3	c.3499G>A (p.Glu1167Lys) n.4083G>A c.2551G>A (p.Glu851Lys) c.2041G>A (p.Glu681Lys) c.2497G>A (n.2497G>A) c.3895G>A (p.Glu1299Lys) c.3877G>A (p.Glu1293Lys)	dbSNP gnomAD v3 gnomAD v4
22	g.50721731G>C	CA515263329	SHANK3	c.3499G>C (p.Glu1167Gln) n.4083G>C c.2551G>C (p.Glu851Gln) c.2041G>C (p.Glu681Gln) c.2497G>C (n.2497G>C) c.3895G>C (p.Glu1299Gln) c.3877G>C (p.Glu1293Gln)
22	g.50721731G=	CA2411008422	SHANK3	c.3499G= (p.Glu1167=) n.4083G= c.2551G= (p.Glu851=) c.2041G= (p.Glu681=) c.2497G= (n.2497G=) c.3895G= (p.Glu1299=) c.3877G= (p.Glu1293=)
22	g.50721731G>T	CA515263328	SHANK3	c.3499G>T (p.Glu1167Ter) n.4083G>T c.2551G>T (p.Glu851Ter) c.2041G>T (p.Glu681Ter) c.2497G>T (n.2497G>T) c.3895G>T (p.Glu1299Ter) c.3877G>T (p.Glu1293Ter)
22	g.50721732A>C	CA515263330	SHANK3	c.3500A>C (p.Glu1167Ala) n.4084A>C c.2552A>C (p.Glu851Ala) c.2042A>C (p.Glu681Ala) c.2498A>C (n.2498A>C) c.3896A>C (p.Glu1299Ala) c.3878A>C (p.Glu1293Ala)
22	g.50721732A>G	CA515263332	SHANK3	c.3500A>G (p.Glu1167Gly) n.4084A>G c.2552A>G (p.Glu851Gly) c.2042A>G (p.Glu681Gly) c.2498A>G (n.2498A>G) c.3896A>G (p.Glu1299Gly) c.3878A>G (p.Glu1293Gly)	gnomAD v4
22	g.50721732A>T	CA515263331	SHANK3	c.3500A>T (p.Glu1167Val) n.4084A>T c.2552A>T (p.Glu851Val) c.2042A>T (p.Glu681Val) c.2498A>T (n.2498A>T) c.3896A>T (p.Glu1299Val) c.3878A>T (p.Glu1293Val)
22	g.50721733G>A	CA515263333	SHANK3	c.3501G>A (p.Glu1167=) n.4085G>A c.2553G>A (p.Glu851=) c.2043G>A (p.Glu681=) c.2499G>A (n.2499G>A) c.3897G>A (p.Glu1299=) c.3879G>A (p.Glu1293=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721733G>C	CA515263334	SHANK3	c.3501G>C (p.Glu1167Asp) n.4085G>C c.2553G>C (p.Glu851Asp) c.2043G>C (p.Glu681Asp) c.2499G>C (n.2499G>C) c.3897G>C (p.Glu1299Asp) c.3879G>C (p.Glu1293Asp)	gnomAD v4
22	g.50721733G=	CA2411008423	SHANK3	c.3501G= (p.Glu1167=) n.4085G= c.2553G= (p.Glu851=) c.2043G= (p.Glu681=) c.2499G= (n.2499G=) c.3897G= (p.Glu1299=) c.3879G= (p.Glu1293=)
22	g.50721733G>T	CA515263335	SHANK3	c.3501G>T (p.Glu1167Asp) n.4085G>T c.2553G>T (p.Glu851Asp) c.2043G>T (p.Glu681Asp) c.2499G>T (n.2499G>T) c.3897G>T (p.Glu1299Asp) c.3879G>T (p.Glu1293Asp)
22	g.50721734C>A	CA515263336	SHANK3	c.3502C>A (p.Leu1168Met) n.4086C>A c.2554C>A (p.Leu852Met) c.2044C>A (p.Leu682Met) c.2500C>A (n.2500C>A) c.3898C>A (p.Leu1300Met) c.3880C>A (p.Leu1294Met)
22	g.50721734C=	CA2411008424	SHANK3	c.3502C= (p.Leu1168=) n.4086C= c.2554C= (p.Leu852=) c.2044C= (p.Leu682=) c.2500C= (n.2500C=) c.3898C= (p.Leu1300=) c.3880C= (p.Leu1294=)
22	g.50721734C>G	CA515263337	SHANK3	c.3502C>G (p.Leu1168Val) n.4086C>G c.2554C>G (p.Leu852Val) c.2044C>G (p.Leu682Val) c.2500C>G (n.2500C>G) c.3898C>G (p.Leu1300Val) c.3880C>G (p.Leu1294Val)
22	g.50721734C>T	CA515263338	SHANK3	c.3502C>T (p.Leu1168=) n.4086C>T c.2554C>T (p.Leu852=) c.2044C>T (p.Leu682=) c.2500C>T (n.2500C>T) c.3898C>T (p.Leu1300=) c.3880C>T (p.Leu1294=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721735T>A	CA515263339	SHANK3	c.3503T>A (p.Leu1168Gln) n.4087T>A c.2555T>A (p.Leu852Gln) c.2045T>A (p.Leu682Gln) c.2501T>A (n.2501T>A) c.3899T>A (p.Leu1300Gln) c.3881T>A (p.Leu1294Gln)
22	g.50721735T>C	CA515263340	SHANK3	c.3503T>C (p.Leu1168Pro) n.4087T>C c.2555T>C (p.Leu852Pro) c.2045T>C (p.Leu682Pro) c.2501T>C (n.2501T>C) c.3899T>C (p.Leu1300Pro) c.3881T>C (p.Leu1294Pro)
22	g.50721735T>G	CA515263341	SHANK3	c.3503T>G (p.Leu1168Arg) n.4087T>G c.2555T>G (p.Leu852Arg) c.2045T>G (p.Leu682Arg) c.2501T>G (n.2501T>G) c.3899T>G (p.Leu1300Arg) c.3881T>G (p.Leu1294Arg)
22	g.50721736G>A	CA515263342	SHANK3	c.3504G>A (p.Leu1168=) n.4088G>A c.2556G>A (p.Leu852=) c.2046G>A (p.Leu682=) c.2502G>A (n.2502G>A) c.3900G>A (p.Leu1300=) c.3882G>A (p.Leu1294=)	dbSNP gnomAD v4
22	g.50721736G>C	CA515263343	SHANK3	c.3504G>C (p.Leu1168=) n.4088G>C c.2556G>C (p.Leu852=) c.2046G>C (p.Leu682=) c.2502G>C (n.2502G>C) c.3900G>C (p.Leu1300=) c.3882G>C (p.Leu1294=)
22	g.50721736G=	CA2411008425	SHANK3	c.3504G= (p.Leu1168=) n.4088G= c.2556G= (p.Leu852=) c.2046G= (p.Leu682=) c.2502G= (n.2502G=) c.3900G= (p.Leu1300=) c.3882G= (p.Leu1294=)
22	g.50721736G>T	CA515263344	SHANK3	c.3504G>T (p.Leu1168=) n.4088G>T c.2556G>T (p.Leu852=) c.2046G>T (p.Leu682=) c.2502G>T (n.2502G>T) c.3900G>T (p.Leu1300=) c.3882G>T (p.Leu1294=)	gnomAD v4
22	g.50721737G>A	CA515263345	SHANK3	c.3505G>A (p.Ala1169Thr) n.4089G>A c.2557G>A (p.Ala853Thr) c.2047G>A (p.Ala683Thr) c.2503G>A (n.2503G>A) c.3901G>A (p.Ala1301Thr) c.3883G>A (p.Ala1295Thr)	dbSNP
22	g.50721737G>C	CA515263347	SHANK3	c.3505G>C (p.Ala1169Pro) n.4089G>C c.2557G>C (p.Ala853Pro) c.2047G>C (p.Ala683Pro) c.2503G>C (n.2503G>C) c.3901G>C (p.Ala1301Pro) c.3883G>C (p.Ala1295Pro)
22	g.50721737G=	CA2411008426	SHANK3	c.3505G= (p.Ala1169=) n.4089G= c.2557G= (p.Ala853=) c.2047G= (p.Ala683=) c.2503G= (n.2503G=) c.3901G= (p.Ala1301=) c.3883G= (p.Ala1295=)
22	g.50721737G>T	CA515263346	SHANK3	c.3505G>T (p.Ala1169Ser) n.4089G>T c.2557G>T (p.Ala853Ser) c.2047G>T (p.Ala683Ser) c.2503G>T (n.2503G>T) c.3901G>T (p.Ala1301Ser) c.3883G>T (p.Ala1295Ser)
22	g.50721738C>A	CA515263348	SHANK3	c.3506C>A (p.Ala1169Asp) n.4090C>A c.2558C>A (p.Ala853Asp) c.2048C>A (p.Ala683Asp) c.2504C>A (n.2504C>A) c.3902C>A (p.Ala1301Asp) c.3884C>A (p.Ala1295Asp)
22	g.50721738C=	CA2411008427	SHANK3	c.3506C= (p.Ala1169=) n.4090C= c.2558C= (p.Ala853=) c.2048C= (p.Ala683=) c.2504C= (n.2504C=) c.3902C= (p.Ala1301=) c.3884C= (p.Ala1295=)
22	g.50721738C>G	CA515263349	SHANK3	c.3506C>G (p.Ala1169Gly) n.4090C>G c.2558C>G (p.Ala853Gly) c.2048C>G (p.Ala683Gly) c.2504C>G (n.2504C>G) c.3902C>G (p.Ala1301Gly) c.3884C>G (p.Ala1295Gly)
22	g.50721738C>T	CA10326171	SHANK3	c.3506C>T (p.Ala1169Val) n.4090C>T c.2558C>T (p.Ala853Val) c.2048C>T (p.Ala683Val) c.2504C>T (n.2504C>T) c.3902C>T (p.Ala1301Val) c.3884C>T (p.Ala1295Val)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721739C>A	CA515263350	SHANK3	c.3507C>A (p.Ala1169=) n.4091C>A c.2559C>A (p.Ala853=) c.2049C>A (p.Ala683=) c.2505C>A (n.2505C>A) c.3903C>A (p.Ala1301=) c.3885C>A (p.Ala1295=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721739C=	CA2411008428	SHANK3	c.3507C= (p.Ala1169=) n.4091C= c.2559C= (p.Ala853=) c.2049C= (p.Ala683=) c.2505C= (n.2505C=) c.3903C= (p.Ala1301=) c.3885C= (p.Ala1295=)
22	g.50721739C>G	CA515263351	SHANK3	c.3507C>G (p.Ala1169=) n.4091C>G c.2559C>G (p.Ala853=) c.2049C>G (p.Ala683=) c.2505C>G (n.2505C>G) c.3903C>G (p.Ala1301=) c.3885C>G (p.Ala1295=)
22	g.50721739C>T	CA10326172	SHANK3	c.3507C>T (p.Ala1169=) n.4091C>T c.2559C>T (p.Ala853=) c.2049C>T (p.Ala683=) c.2505C>T (n.2505C>T) c.3903C>T (p.Ala1301=) c.3885C>T (p.Ala1295=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721740C>A	CA515263352	SHANK3	c.3508C>A (p.Arg1170=) n.4092C>A c.2560C>A (p.Arg854=) c.2050C>A (p.Arg684=) c.2506C>A (n.2506C>A) c.3904C>A (p.Arg1302=) c.3886C>A (p.Arg1296=)	gnomAD v4
22	g.50721740C=	CA2411008429	SHANK3	c.3508C= (p.Arg1170=) n.4092C= c.2560C= (p.Arg854=) c.2050C= (p.Arg684=) c.2506C= (n.2506C=) c.3904C= (p.Arg1302=) c.3886C= (p.Arg1296=)
22	g.50721740C>G	CA515263353	SHANK3	c.3508C>G (p.Arg1170Gly) n.4092C>G c.2560C>G (p.Arg854Gly) c.2050C>G (p.Arg684Gly) c.2506C>G (n.2506C>G) c.3904C>G (p.Arg1302Gly) c.3886C>G (p.Arg1296Gly)	dbSNP
22	g.50721740C>T	CA515263354	SHANK3	c.3508C>T (p.Arg1170Ter) n.4092C>T c.2560C>T (p.Arg854Ter) c.2050C>T (p.Arg684Ter) c.2506C>T (n.2506C>T) c.3904C>T (p.Arg1302Ter) c.3886C>T (p.Arg1296Ter)	ClinVar dbSNP gnomAD v2
22	g.50721741G>A	CA10326173	SHANK3	c.3509G>A (p.Arg1170Gln) n.4093G>A c.2561G>A (p.Arg854Gln) c.2051G>A (p.Arg684Gln) c.2507G>A (n.2507G>A) c.3905G>A (p.Arg1302Gln) c.3887G>A (p.Arg1296Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50721741G>C	CA515263356	SHANK3	c.3509G>C (p.Arg1170Pro) n.4093G>C c.2561G>C (p.Arg854Pro) c.2051G>C (p.Arg684Pro) c.2507G>C (n.2507G>C) c.3905G>C (p.Arg1302Pro) c.3887G>C (p.Arg1296Pro)
22	g.50721741G=	CA2411008430	SHANK3	c.3509G= (p.Arg1170=) n.4093G= c.2561G= (p.Arg854=) c.2051G= (p.Arg684=) c.2507G= (n.2507G=) c.3905G= (p.Arg1302=) c.3887G= (p.Arg1296=)
22	g.50721741G>T	CA515263355	SHANK3	c.3509G>T (p.Arg1170Leu) n.4093G>T c.2561G>T (p.Arg854Leu) c.2051G>T (p.Arg684Leu) c.2507G>T (n.2507G>T) c.3905G>T (p.Arg1302Leu) c.3887G>T (p.Arg1296Leu)	gnomAD v4
22	g.50721742A=	CA2411008431	SHANK3	c.3510A= (p.Arg1170=) n.4094A= c.2562A= (p.Arg854=) c.2052A= (p.Arg684=) c.2508A= (n.2508A=) c.3906A= (p.Arg1302=) c.3888A= (p.Arg1296=)
22	g.50721742A>C	CA515263357	SHANK3	c.3510A>C (p.Arg1170=) n.4094A>C c.2562A>C (p.Arg854=) c.2052A>C (p.Arg684=) c.2508A>C (n.2508A>C) c.3906A>C (p.Arg1302=) c.3888A>C (p.Arg1296=)
22	g.50721742A>G	CA515263358	SHANK3	c.3510A>G (p.Arg1170=) n.4094A>G c.2562A>G (p.Arg854=) c.2052A>G (p.Arg684=) c.2508A>G (n.2508A>G) c.3906A>G (p.Arg1302=) c.3888A>G (p.Arg1296=)
22	g.50721742A>T	CA10326174	SHANK3	c.3510A>T (p.Arg1170=) n.4094A>T c.2562A>T (p.Arg854=) c.2052A>T (p.Arg684=) c.2508A>T (n.2508A>T) c.3906A>T (p.Arg1302=) c.3888A>T (p.Arg1296=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721743A>C	CA515263359	SHANK3	c.3511A>C (p.Ile1171Leu) n.4095A>C c.2563A>C (p.Ile855Leu) c.2053A>C (p.Ile685Leu) c.2509A>C (n.2509A>C) c.3907A>C (p.Ile1303Leu) c.3889A>C (p.Ile1297Leu)
22	g.50721743A>G	CA515263360	SHANK3	c.3511A>G (p.Ile1171Val) n.4095A>G c.2563A>G (p.Ile855Val) c.2053A>G (p.Ile685Val) c.2509A>G (n.2509A>G) c.3907A>G (p.Ile1303Val) c.3889A>G (p.Ile1297Val)
22	g.50721743A>T	CA515263361	SHANK3	c.3511A>T (p.Ile1171Phe) n.4095A>T c.2563A>T (p.Ile855Phe) c.2053A>T (p.Ile685Phe) c.2509A>T (n.2509A>T) c.3907A>T (p.Ile1303Phe) c.3889A>T (p.Ile1297Phe)
22	g.50721744T>A	CA515263362	SHANK3	c.3512T>A (p.Ile1171Asn) n.4096T>A c.2564T>A (p.Ile855Asn) c.2054T>A (p.Ile685Asn) c.2510T>A (n.2510T>A) c.3908T>A (p.Ile1303Asn) c.3890T>A (p.Ile1297Asn)
22	g.50721744T>C	CA515263363	SHANK3	c.3512T>C (p.Ile1171Thr) n.4096T>C c.2564T>C (p.Ile855Thr) c.2054T>C (p.Ile685Thr) c.2510T>C (n.2510T>C) c.3908T>C (p.Ile1303Thr) c.3890T>C (p.Ile1297Thr)
22	g.50721744T>G	CA515263364	SHANK3	c.3512T>G (p.Ile1171Ser) n.4096T>G c.2564T>G (p.Ile855Ser) c.2054T>G (p.Ile685Ser) c.2510T>G (n.2510T>G) c.3908T>G (p.Ile1303Ser) c.3890T>G (p.Ile1297Ser)
22	g.50721745T>A	CA515263365	SHANK3	c.3513T>A (p.Ile1171=) n.4097T>A c.2565T>A (p.Ile855=) c.2055T>A (p.Ile685=) c.2511T>A (n.2511T>A) c.3909T>A (p.Ile1303=) c.3891T>A (p.Ile1297=)
22	g.50721745T>C	CA515263366	SHANK3	c.3513T>C (p.Ile1171=) n.4097T>C c.2565T>C (p.Ile855=) c.2055T>C (p.Ile685=) c.2511T>C (n.2511T>C) c.3909T>C (p.Ile1303=) c.3891T>C (p.Ile1297=)
22	g.50721745T>G	CA515263367	SHANK3	c.3513T>G (p.Ile1171Met) n.4097T>G c.2565T>G (p.Ile855Met) c.2055T>G (p.Ile685Met) c.2511T>G (n.2511T>G) c.3909T>G (p.Ile1303Met) c.3891T>G (p.Ile1297Met)
22	g.50721746G>A	CA515263370	SHANK3	c.3514G>A (p.Gly1172Arg) n.4098G>A c.2566G>A (p.Gly856Arg) c.2056G>A (p.Gly686Arg) c.2512G>A (n.2512G>A) c.3910G>A (p.Gly1304Arg) c.3892G>A (p.Gly1298Arg)
22	g.50721746G>C	CA515263368	SHANK3	c.3514G>C (p.Gly1172Arg) n.4098G>C c.2566G>C (p.Gly856Arg) c.2056G>C (p.Gly686Arg) c.2512G>C (n.2512G>C) c.3910G>C (p.Gly1304Arg) c.3892G>C (p.Gly1298Arg)
22	g.50721746G=	CA2411008432	SHANK3	c.3514G= (p.Gly1172=) n.4098G= c.2566G= (p.Gly856=) c.2056G= (p.Gly686=) c.2512G= (n.2512G=) c.3910G= (p.Gly1304=) c.3892G= (p.Gly1298=)
22	g.50721746G>T	CA515263369	SHANK3	c.3514G>T (p.Gly1172Trp) n.4098G>T c.2566G>T (p.Gly856Trp) c.2056G>T (p.Gly686Trp) c.2512G>T (n.2512G>T) c.3910G>T (p.Gly1304Trp) c.3892G>T (p.Gly1298Trp)	dbSNP gnomAD v4
22	g.50721747G>A	CA515263371	SHANK3	c.3515G>A (p.Gly1172Glu) n.4099G>A c.2567G>A (p.Gly856Glu) c.2057G>A (p.Gly686Glu) c.2513G>A (n.2513G>A) c.3911G>A (p.Gly1304Glu) c.3893G>A (p.Gly1298Glu)
22	g.50721747G>C	CA515263372	SHANK3	c.3515G>C (p.Gly1172Ala) n.4099G>C c.2567G>C (p.Gly856Ala) c.2057G>C (p.Gly686Ala) c.2513G>C (n.2513G>C) c.3911G>C (p.Gly1304Ala) c.3893G>C (p.Gly1298Ala)
22	g.50721747G>T	CA515263373	SHANK3	c.3515G>T (p.Gly1172Val) n.4099G>T c.2567G>T (p.Gly856Val) c.2057G>T (p.Gly686Val) c.2513G>T (n.2513G>T) c.3911G>T (p.Gly1304Val) c.3893G>T (p.Gly1298Val)	gnomAD v4
22	g.50721748G>A	CA10326175	SHANK3	c.3516G>A (p.Gly1172=) n.4100G>A c.2568G>A (p.Gly856=) c.2058G>A (p.Gly686=) c.2514G>A (n.2514G>A) c.3912G>A (p.Gly1304=) c.3894G>A (p.Gly1298=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721748G>C	CA515263374	SHANK3	c.3516G>C (p.Gly1172=) n.4100G>C c.2568G>C (p.Gly856=) c.2058G>C (p.Gly686=) c.2514G>C (n.2514G>C) c.3912G>C (p.Gly1304=) c.3894G>C (p.Gly1298=)
22	g.50721748G=	CA2411008433	SHANK3	c.3516G= (p.Gly1172=) n.4100G= c.2568G= (p.Gly856=) c.2058G= (p.Gly686=) c.2514G= (n.2514G=) c.3912G= (p.Gly1304=) c.3894G= (p.Gly1298=)
22	g.50721748G>T	CA515263375	SHANK3	c.3516G>T (p.Gly1172=) n.4100G>T c.2568G>T (p.Gly856=) c.2058G>T (p.Gly686=) c.2514G>T (n.2514G>T) c.3912G>T (p.Gly1304=) c.3894G>T (p.Gly1298=)
22	g.50721749T>A	CA515263376	SHANK3	c.3517T>A (p.Leu1173Met) n.4101T>A c.2569T>A (p.Leu857Met) c.2059T>A (p.Leu687Met) c.2515T>A (n.2515T>A) c.3913T>A (p.Leu1305Met) c.3895T>A (p.Leu1299Met)
22	g.50721749T>C	CA515263377	SHANK3	c.3517T>C (p.Leu1173=) n.4101T>C c.2569T>C (p.Leu857=) c.2059T>C (p.Leu687=) c.2515T>C (n.2515T>C) c.3913T>C (p.Leu1305=) c.3895T>C (p.Leu1299=)
22	g.50721749T>G	CA515263378	SHANK3	c.3517T>G (p.Leu1173Val) n.4101T>G c.2569T>G (p.Leu857Val) c.2059T>G (p.Leu687Val) c.2515T>G (n.2515T>G) c.3913T>G (p.Leu1305Val) c.3895T>G (p.Leu1299Val)
22	g.50721750T>A	CA515263379	SHANK3	c.3518T>A (p.Leu1173Ter) n.4102T>A c.2570T>A (p.Leu857Ter) c.2060T>A (p.Leu687Ter) c.2516T>A (n.2516T>A) c.3914T>A (p.Leu1305Ter) c.3896T>A (p.Leu1299Ter)
22	g.50721750T>C	CA515263380	SHANK3	c.3518T>C (p.Leu1173Ser) n.4102T>C c.2570T>C (p.Leu857Ser) c.2060T>C (p.Leu687Ser) c.2516T>C (n.2516T>C) c.3914T>C (p.Leu1305Ser) c.3896T>C (p.Leu1299Ser)
22	g.50721750T>G	CA515263381	SHANK3	c.3518T>G (p.Leu1173Trp) n.4102T>G c.2570T>G (p.Leu857Trp) c.2060T>G (p.Leu687Trp) c.2516T>G (n.2516T>G) c.3914T>G (p.Leu1305Trp) c.3896T>G (p.Leu1299Trp)
22	g.50721751G>A	CA515263384	SHANK3	c.3519G>A (p.Leu1173=) n.4103G>A c.2571G>A (p.Leu857=) c.2061G>A (p.Leu687=) c.2517G>A (n.2517G>A) c.3915G>A (p.Leu1305=) c.3897G>A (p.Leu1299=)
22	g.50721751G>C	CA515263383	SHANK3	c.3519G>C (p.Leu1173Phe) n.4103G>C c.2571G>C (p.Leu857Phe) c.2061G>C (p.Leu687Phe) c.2517G>C (n.2517G>C) c.3915G>C (p.Leu1305Phe) c.3897G>C (p.Leu1299Phe)
22	g.50721751G>T	CA515263382	SHANK3	c.3519G>T (p.Leu1173Phe) n.4103G>T c.2571G>T (p.Leu857Phe) c.2061G>T (p.Leu687Phe) c.2517G>T (n.2517G>T) c.3915G>T (p.Leu1305Phe) c.3897G>T (p.Leu1299Phe)	gnomAD v4
22	g.50721752G>A	CA515263385	SHANK3	c.3520G>A (p.Val1174Met) n.4104G>A c.2572G>A (p.Val858Met) c.2062G>A (p.Val688Met) c.2518G>A (n.2518G>A) c.3916G>A (p.Val1306Met) c.3898G>A (p.Val1300Met)
22	g.50721752G>C	CA515263386	SHANK3	c.3520G>C (p.Val1174Leu) n.4104G>C c.2572G>C (p.Val858Leu) c.2062G>C (p.Val688Leu) c.2518G>C (n.2518G>C) c.3916G>C (p.Val1306Leu) c.3898G>C (p.Val1300Leu)	dbSNP
22	g.50721752G=	CA2411008434	SHANK3	c.3520G= (p.Val1174=) n.4104G= c.2572G= (p.Val858=) c.2062G= (p.Val688=) c.2518G= (n.2518G=) c.3916G= (p.Val1306=) c.3898G= (p.Val1300=)
22	g.50721752G>T	CA10326176	SHANK3	c.3520G>T (p.Val1174Leu) n.4104G>T c.2572G>T (p.Val858Leu) c.2062G>T (p.Val688Leu) c.2518G>T (n.2518G>T) c.3916G>T (p.Val1306Leu) c.3898G>T (p.Val1300Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721753T>A	CA515263387	SHANK3	c.3521T>A (p.Val1174Glu) n.4105T>A c.2573T>A (p.Val858Glu) c.2063T>A (p.Val688Glu) c.2519T>A (n.2519T>A) c.3917T>A (p.Val1306Glu) c.3899T>A (p.Val1300Glu)
22	g.50721753T>C	CA515263388	SHANK3	c.3521T>C (p.Val1174Ala) n.4105T>C c.2573T>C (p.Val858Ala) c.2063T>C (p.Val688Ala) c.2519T>C (n.2519T>C) c.3917T>C (p.Val1306Ala) c.3899T>C (p.Val1300Ala)
22	g.50721753T>G	CA515263389	SHANK3	c.3521T>G (p.Val1174Gly) n.4105T>G c.2573T>G (p.Val858Gly) c.2063T>G (p.Val688Gly) c.2519T>G (n.2519T>G) c.3917T>G (p.Val1306Gly) c.3899T>G (p.Val1300Gly)
22	g.50721754G>A	CA515263390	SHANK3	c.3522G>A (p.Val1174=) n.4106G>A c.2574G>A (p.Val858=) c.2064G>A (p.Val688=) c.2520G>A (n.2520G>A) c.3918G>A (p.Val1306=) c.3900G>A (p.Val1300=)
22	g.50721754G>C	CA515263391	SHANK3	c.3522G>C (p.Val1174=) n.4106G>C c.2574G>C (p.Val858=) c.2064G>C (p.Val688=) c.2520G>C (n.2520G>C) c.3918G>C (p.Val1306=) c.3900G>C (p.Val1300=)
22	g.50721754G>T	CA515263392	SHANK3	c.3522G>T (p.Val1174=) n.4106G>T c.2574G>T (p.Val858=) c.2064G>T (p.Val688=) c.2520G>T (n.2520G>T) c.3918G>T (p.Val1306=) c.3900G>T (p.Val1300=)
22	g.50721755C>A	CA515263393	SHANK3	c.3523C>A (p.Pro1175Thr) n.4107C>A c.2575C>A (p.Pro859Thr) c.2065C>A (p.Pro689Thr) c.2521C>A (n.2521C>A) c.3919C>A (p.Pro1307Thr) c.3901C>A (p.Pro1301Thr)	gnomAD v4
22	g.50721755C>G	CA515263394	SHANK3	c.3523C>G (p.Pro1175Ala) n.4107C>G c.2575C>G (p.Pro859Ala) c.2065C>G (p.Pro689Ala) c.2521C>G (n.2521C>G) c.3919C>G (p.Pro1307Ala) c.3901C>G (p.Pro1301Ala)
22	g.50721755C>T	CA515263395	SHANK3	c.3523C>T (p.Pro1175Ser) n.4107C>T c.2575C>T (p.Pro859Ser) c.2065C>T (p.Pro689Ser) c.2521C>T (n.2521C>T) c.3919C>T (p.Pro1307Ser) c.3901C>T (p.Pro1301Ser)	gnomAD v4
22	g.50721756C>A	CA515263396	SHANK3	c.3524C>A (p.Pro1175Gln) n.4108C>A c.2576C>A (p.Pro859Gln) c.2066C>A (p.Pro689Gln) c.2522C>A (n.2522C>A) c.3920C>A (p.Pro1307Gln) c.3902C>A (p.Pro1301Gln)
22	g.50721756C=	CA2411008435	SHANK3	c.3524C= (p.Pro1175=) n.4108C= c.2576C= (p.Pro859=) c.2066C= (p.Pro689=) c.2522C= (n.2522C=) c.3920C= (p.Pro1307=) c.3902C= (p.Pro1301=)
22	g.50721756C>G	CA515263397	SHANK3	c.3524C>G (p.Pro1175Arg) n.4108C>G c.2576C>G (p.Pro859Arg) c.2066C>G (p.Pro689Arg) c.2522C>G (n.2522C>G) c.3920C>G (p.Pro1307Arg) c.3902C>G (p.Pro1301Arg)
22	g.50721756C>T	CA10326177	SHANK3	c.3524C>T (p.Pro1175Leu) n.4108C>T c.2576C>T (p.Pro859Leu) c.2066C>T (p.Pro689Leu) c.2522C>T (n.2522C>T) c.3920C>T (p.Pro1307Leu) c.3902C>T (p.Pro1301Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721757A>C	CA515263398	SHANK3	c.3525A>C (p.Pro1175=) n.4109A>C c.2577A>C (p.Pro859=) c.2067A>C (p.Pro689=) c.2523A>C (n.2523A>C) c.3921A>C (p.Pro1307=) c.3903A>C (p.Pro1301=)
22	g.50721757A>G	CA515263400	SHANK3	c.3525A>G (p.Pro1175=) n.4109A>G c.2577A>G (p.Pro859=) c.2067A>G (p.Pro689=) c.2523A>G (n.2523A>G) c.3921A>G (p.Pro1307=) c.3903A>G (p.Pro1301=)	gnomAD v4
22	g.50721757A>T	CA515263399	SHANK3	c.3525A>T (p.Pro1175=) n.4109A>T c.2577A>T (p.Pro859=) c.2067A>T (p.Pro689=) c.2523A>T (n.2523A>T) c.3921A>T (p.Pro1307=) c.3903A>T (p.Pro1301=)
22	g.50721758C>A	CA515263401	SHANK3	c.3526C>A (p.Pro1176Thr) n.4110C>A c.2578C>A (p.Pro860Thr) c.2068C>A (p.Pro690Thr) c.2524C>A (n.2524C>A) c.3922C>A (p.Pro1308Thr) c.3904C>A (p.Pro1302Thr)
22	g.50721758C=	CA2411008436	SHANK3	c.3526C= (p.Pro1176=) n.4110C= c.2578C= (p.Pro860=) c.2068C= (p.Pro690=) c.2524C= (n.2524C=) c.3922C= (p.Pro1308=) c.3904C= (p.Pro1302=)
22	g.50721758C>G	CA515263402	SHANK3	c.3526C>G (p.Pro1176Ala) n.4110C>G c.2578C>G (p.Pro860Ala) c.2068C>G (p.Pro690Ala) c.2524C>G (n.2524C>G) c.3922C>G (p.Pro1308Ala) c.3904C>G (p.Pro1302Ala)
22	g.50721758C>T	CA515263403	SHANK3	c.3526C>T (p.Pro1176Ser) n.4110C>T c.2578C>T (p.Pro860Ser) c.2068C>T (p.Pro690Ser) c.2524C>T (n.2524C>T) c.3922C>T (p.Pro1308Ser) c.3904C>T (p.Pro1302Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.50721762del	CA645619944	SHANK3	c.3530del (p.Pro1177LeufsTer?) n.4114del c.2582del (p.Pro861LeufsTer?) c.2072del (p.Pro691LeufsTer?) c.2528del (n.2528del) c.3926del (p.Pro1309LeufsTer?) c.3908del (p.Pro1303LeufsTer?)	COSMIC COSMIC
22	g.50721759C>A	CA515263404	SHANK3	c.3527C>A (p.Pro1176His) n.4111C>A c.2579C>A (p.Pro860His) c.2069C>A (p.Pro690His) c.2525C>A (n.2525C>A) c.3923C>A (p.Pro1308His) c.3905C>A (p.Pro1302His)
22	g.50721759C=	CA2411008437	SHANK3	c.3527C= (p.Pro1176=) n.4111C= c.2579C= (p.Pro860=) c.2069C= (p.Pro690=) c.2525C= (n.2525C=) c.3923C= (p.Pro1308=) c.3905C= (p.Pro1302=)
22	g.50721759C>G	CA515263405	SHANK3	c.3527C>G (p.Pro1176Arg) n.4111C>G c.2579C>G (p.Pro860Arg) c.2069C>G (p.Pro690Arg) c.2525C>G (n.2525C>G) c.3923C>G (p.Pro1308Arg) c.3905C>G (p.Pro1302Arg)
22	g.50721759C>T	CA515263406	SHANK3	c.3527C>T (p.Pro1176Leu) n.4111C>T c.2579C>T (p.Pro860Leu) c.2069C>T (p.Pro690Leu) c.2525C>T (n.2525C>T) c.3923C>T (p.Pro1308Leu) c.3905C>T (p.Pro1302Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721760C>A	CA515263407	SHANK3	c.3528C>A (p.Pro1176=) n.4112C>A c.2580C>A (p.Pro860=) c.2070C>A (p.Pro690=) c.2526C>A (n.2526C>A) c.3924C>A (p.Pro1308=) c.3906C>A (p.Pro1302=)	gnomAD v4
22	g.50721760C=	CA2411008438	SHANK3	c.3528C= (p.Pro1176=) n.4112C= c.2580C= (p.Pro860=) c.2070C= (p.Pro690=) c.2526C= (n.2526C=) c.3924C= (p.Pro1308=) c.3906C= (p.Pro1302=)
22	g.50721760C>G	CA515263408	SHANK3	c.3528C>G (p.Pro1176=) n.4112C>G c.2580C>G (p.Pro860=) c.2070C>G (p.Pro690=) c.2526C>G (n.2526C>G) c.3924C>G (p.Pro1308=) c.3906C>G (p.Pro1302=)
22	g.50721760C>T	CA515263409	SHANK3	c.3528C>T (p.Pro1176=) n.4112C>T c.2580C>T (p.Pro860=) c.2070C>T (p.Pro690=) c.2526C>T (n.2526C>T) c.3924C>T (p.Pro1308=) c.3906C>T (p.Pro1302=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721761C>A	CA515263411	SHANK3	c.3529C>A (p.Pro1177Thr) n.4113C>A c.2581C>A (p.Pro861Thr) c.2071C>A (p.Pro691Thr) c.2527C>A (n.2527C>A) c.3925C>A (p.Pro1309Thr) c.3907C>A (p.Pro1303Thr)
22	g.50721761C>G	CA515263412	SHANK3	c.3529C>G (p.Pro1177Ala) n.4113C>G c.2581C>G (p.Pro861Ala) c.2071C>G (p.Pro691Ala) c.2527C>G (n.2527C>G) c.3925C>G (p.Pro1309Ala) c.3907C>G (p.Pro1303Ala)
22	g.50721761C>T	CA515263410	SHANK3	c.3529C>T (p.Pro1177Ser) n.4113C>T c.2581C>T (p.Pro861Ser) c.2071C>T (p.Pro691Ser) c.2527C>T (n.2527C>T) c.3925C>T (p.Pro1309Ser) c.3907C>T (p.Pro1303Ser)
22	g.50721762C>A	CA515263413	SHANK3	c.3530C>A (p.Pro1177His) n.4114C>A c.2582C>A (p.Pro861His) c.2072C>A (p.Pro691His) c.2528C>A (n.2528C>A) c.3926C>A (p.Pro1309His) c.3908C>A (p.Pro1303His)
22	g.50721762C>G	CA515263414	SHANK3	c.3530C>G (p.Pro1177Arg) n.4114C>G c.2582C>G (p.Pro861Arg) c.2072C>G (p.Pro691Arg) c.2528C>G (n.2528C>G) c.3926C>G (p.Pro1309Arg) c.3908C>G (p.Pro1303Arg)
22	g.50721762C>T	CA515263415	SHANK3	c.3530C>T (p.Pro1177Leu) n.4114C>T c.2582C>T (p.Pro861Leu) c.2072C>T (p.Pro691Leu) c.2528C>T (n.2528C>T) c.3926C>T (p.Pro1309Leu) c.3908C>T (p.Pro1303Leu)
22	g.50721763T>A	CA515263416	SHANK3	c.3531T>A (p.Pro1177=) n.4115T>A c.2583T>A (p.Pro861=) c.2073T>A (p.Pro691=) c.2529T>A (n.2529T>A) c.3927T>A (p.Pro1309=) c.3909T>A (p.Pro1303=)
22	g.50721763T>C	CA515263417	SHANK3	c.3531T>C (p.Pro1177=) n.4115T>C c.2583T>C (p.Pro861=) c.2073T>C (p.Pro691=) c.2529T>C (n.2529T>C) c.3927T>C (p.Pro1309=) c.3909T>C (p.Pro1303=)	gnomAD v4
22	g.50721763T>G	CA515263418	SHANK3	c.3531T>G (p.Pro1177=) n.4115T>G c.2583T>G (p.Pro861=) c.2073T>G (p.Pro691=) c.2529T>G (n.2529T>G) c.3927T>G (p.Pro1309=) c.3909T>G (p.Pro1303=)
22	g.50721763_50721764delinsTG	CA2411008439	SHANK3	c.3531_3532delinsTG (p.Pro1177=) n.4115_4116delinsTG c.2583_2584delinsTG (p.Pro861=) c.2073_2074delinsTG (p.Pro691=) c.2529_2530delinsTG (n.2529_2530delinsTG) c.3927_3928delinsTG (p.Pro1309=) c.3909_3910delinsTG (p.Pro1303=)
22	g.50721764del	CA10575579	SHANK3	c.3532del (p.Glu1178LysfsTer?) n.4116del c.2584del (p.Glu862LysfsTer?) c.2074del (p.Glu692LysfsTer?) c.2530del (n.2530del) c.3928del (p.Glu1310LysfsTer?) c.3910del (p.Glu1304LysfsTer?)	ClinVar dbSNP
22	g.50721764G>A	CA515263419	SHANK3	c.3532G>A (p.Glu1178Lys) n.4116G>A c.2584G>A (p.Glu862Lys) c.2074G>A (p.Glu692Lys) c.2530G>A (n.2530G>A) c.3928G>A (p.Glu1310Lys) c.3910G>A (p.Glu1304Lys)
22	g.50721764G>C	CA515263420	SHANK3	c.3532G>C (p.Glu1178Gln) n.4116G>C c.2584G>C (p.Glu862Gln) c.2074G>C (p.Glu692Gln) c.2530G>C (n.2530G>C) c.3928G>C (p.Glu1310Gln) c.3910G>C (p.Glu1304Gln)	gnomAD v4
22	g.50721764G>T	CA515263421	SHANK3	c.3532G>T (p.Glu1178Ter) n.4116G>T c.2584G>T (p.Glu862Ter) c.2074G>T (p.Glu692Ter) c.2530G>T (n.2530G>T) c.3928G>T (p.Glu1310Ter) c.3910G>T (p.Glu1304Ter)
22	g.50721765A>C	CA515263422	SHANK3	c.3533A>C (p.Glu1178Ala) n.4117A>C c.2585A>C (p.Glu862Ala) c.2075A>C (p.Glu692Ala) c.2531A>C (n.2531A>C) c.3929A>C (p.Glu1310Ala) c.3911A>C (p.Glu1304Ala)
22	g.50721765A>G	CA515263423	SHANK3	c.3533A>G (p.Glu1178Gly) n.4117A>G c.2585A>G (p.Glu862Gly) c.2075A>G (p.Glu692Gly) c.2531A>G (n.2531A>G) c.3929A>G (p.Glu1310Gly) c.3911A>G (p.Glu1304Gly)
22	g.50721765A>T	CA515263424	SHANK3	c.3533A>T (p.Glu1178Val) n.4117A>T c.2585A>T (p.Glu862Val) c.2075A>T (p.Glu692Val) c.2531A>T (n.2531A>T) c.3929A>T (p.Glu1310Val) c.3911A>T (p.Glu1304Val)
22	g.50721765_50721767delinsAAG	CA2411008440	SHANK3	c.3533_3535delinsAAG (p.Glu1178=) n.4117_4119delinsAAG c.2585_2587delinsAAG (p.Glu862=) c.2075_2077delinsAAG (p.Glu692=) c.2531_2533delinsAAG (n.2531_2533delinsAAG) c.3929_3931delinsAAG (p.Glu1310=) c.3911_3913delinsAAG (p.Glu1304=)
22	g.50721766A>C	CA515263427	SHANK3	c.3534A>C (p.Glu1178Asp) n.4118A>C c.2586A>C (p.Glu862Asp) c.2076A>C (p.Glu692Asp) c.2532A>C (n.2532A>C) c.3930A>C (p.Glu1310Asp) c.3912A>C (p.Glu1304Asp)
22	g.50721766A>G	CA515263426	SHANK3	c.3534A>G (p.Glu1178=) n.4118A>G c.2586A>G (p.Glu862=) c.2076A>G (p.Glu692=) c.2532A>G (n.2532A>G) c.3930A>G (p.Glu1310=) c.3912A>G (p.Glu1304=)	dbSNP gnomAD v4
22	g.50721766A>T	CA515263425	SHANK3	c.3534A>T (p.Glu1178Asp) n.4118A>T c.2586A>T (p.Glu862Asp) c.2076A>T (p.Glu692Asp) c.2532A>T (n.2532A>T) c.3930A>T (p.Glu1310Asp) c.3912A>T (p.Glu1304Asp)
22	g.50721768_50721769del	CA915951511	SHANK3	c.3536_3537del (p.Glu1179ValfsTer?) n.4120_4121del c.2588_2589del (p.Glu863ValfsTer?) c.2078_2079del (p.Glu693ValfsTer?) c.2534_2535del (n.2534_2535del) c.3932_3933del (p.Glu1311ValfsTer?) c.3914_3915del (p.Glu1305ValfsTer?)	ClinVar dbSNP
22	g.50721767G>A	CA515263428	SHANK3	c.3535G>A (p.Glu1179Lys) n.4119G>A c.2587G>A (p.Glu863Lys) c.2077G>A (p.Glu693Lys) c.2533G>A (n.2533G>A) c.3931G>A (p.Glu1311Lys) c.3913G>A (p.Glu1305Lys)
22	g.50721767G>C	CA515263429	SHANK3	c.3535G>C (p.Glu1179Gln) n.4119G>C c.2587G>C (p.Glu863Gln) c.2077G>C (p.Glu693Gln) c.2533G>C (n.2533G>C) c.3931G>C (p.Glu1311Gln) c.3913G>C (p.Glu1305Gln)	gnomAD v4
22	g.50721767G>T	CA515263430	SHANK3	c.3535G>T (p.Glu1179Ter) n.4119G>T c.2587G>T (p.Glu863Ter) c.2077G>T (p.Glu693Ter) c.2533G>T (n.2533G>T) c.3931G>T (p.Glu1311Ter) c.3913G>T (p.Glu1305Ter)	gnomAD v4
22	g.50721768A=	CA2411008441	SHANK3	c.3536A= (p.Glu1179=) n.4120A= c.2588A= (p.Glu863=) c.2078A= (p.Glu693=) c.2534A= (n.2534A=) c.3932A= (p.Glu1311=) c.3914A= (p.Glu1305=)
22	g.50721768A>C	CA515263431	SHANK3	c.3536A>C (p.Glu1179Ala) n.4120A>C c.2588A>C (p.Glu863Ala) c.2078A>C (p.Glu693Ala) c.2534A>C (n.2534A>C) c.3932A>C (p.Glu1311Ala) c.3914A>C (p.Glu1305Ala)	dbSNP gnomAD v4
22	g.50721768A>G	CA515263432	SHANK3	c.3536A>G (p.Glu1179Gly) n.4120A>G c.2588A>G (p.Glu863Gly) c.2078A>G (p.Glu693Gly) c.2534A>G (n.2534A>G) c.3932A>G (p.Glu1311Gly) c.3914A>G (p.Glu1305Gly)
22	g.50721768A>T	CA515263433	SHANK3	c.3536A>T (p.Glu1179Val) n.4120A>T c.2588A>T (p.Glu863Val) c.2078A>T (p.Glu693Val) c.2534A>T (n.2534A>T) c.3932A>T (p.Glu1311Val) c.3914A>T (p.Glu1305Val)
22	g.50721769G>A	CA515263434	SHANK3	c.3537G>A (p.Glu1179=) n.4121G>A c.2589G>A (p.Glu863=) c.2079G>A (p.Glu693=) c.2535G>A (n.2535G>A) c.3933G>A (p.Glu1311=) c.3915G>A (p.Glu1305=)
22	g.50721769G>C	CA515263435	SHANK3	c.3537G>C (p.Glu1179Asp) n.4121G>C c.2589G>C (p.Glu863Asp) c.2079G>C (p.Glu693Asp) c.2535G>C (n.2535G>C) c.3933G>C (p.Glu1311Asp) c.3915G>C (p.Glu1305Asp)
22	g.50721769G=	CA2411008442	SHANK3	c.3537G= (p.Glu1179=) n.4121G= c.2589G= (p.Glu863=) c.2079G= (p.Glu693=) c.2535G= (n.2535G=) c.3933G= (p.Glu1311=) c.3915G= (p.Glu1305=)
22	g.50721769G>T	CA515263436	SHANK3	c.3537G>T (p.Glu1179Asp) n.4121G>T c.2589G>T (p.Glu863Asp) c.2079G>T (p.Glu693Asp) c.2535G>T (n.2535G>T) c.3933G>T (p.Glu1311Asp) c.3915G>T (p.Glu1305Asp)	dbSNP gnomAD v4
22	g.50721770T>A	CA515263437	SHANK3	c.3538T>A (p.Phe1180Ile) n.4122T>A c.2590T>A (p.Phe864Ile) c.2080T>A (p.Phe694Ile) c.2536T>A (n.2536T>A) c.3934T>A (p.Phe1312Ile) c.3916T>A (p.Phe1306Ile)
22	g.50721770T>C	CA515263438	SHANK3	c.3538T>C (p.Phe1180Leu) n.4122T>C c.2590T>C (p.Phe864Leu) c.2080T>C (p.Phe694Leu) c.2536T>C (n.2536T>C) c.3934T>C (p.Phe1312Leu) c.3916T>C (p.Phe1306Leu)
22	g.50721770T>G	CA515263439	SHANK3	c.3538T>G (p.Phe1180Val) n.4122T>G c.2590T>G (p.Phe864Val) c.2080T>G (p.Phe694Val) c.2536T>G (n.2536T>G) c.3934T>G (p.Phe1312Val) c.3916T>G (p.Phe1306Val)
22	g.50721771T>A	CA515263442	SHANK3	c.3539T>A (p.Phe1180Tyr) n.4123T>A c.2591T>A (p.Phe864Tyr) c.2081T>A (p.Phe694Tyr) c.2537T>A (n.2537T>A) c.3935T>A (p.Phe1312Tyr) c.3917T>A (p.Phe1306Tyr)	gnomAD v4
22	g.50721771T>C	CA515263441	SHANK3	c.3539T>C (p.Phe1180Ser) n.4123T>C c.2591T>C (p.Phe864Ser) c.2081T>C (p.Phe694Ser) c.2537T>C (n.2537T>C) c.3935T>C (p.Phe1312Ser) c.3917T>C (p.Phe1306Ser)
22	g.50721771T>G	CA515263440	SHANK3	c.3539T>G (p.Phe1180Cys) n.4123T>G c.2591T>G (p.Phe864Cys) c.2081T>G (p.Phe694Cys) c.2537T>G (n.2537T>G) c.3935T>G (p.Phe1312Cys) c.3917T>G (p.Phe1306Cys)
22	g.50721772T>A	CA515263443	SHANK3	c.3540T>A (p.Phe1180Leu) n.4124T>A c.2592T>A (p.Phe864Leu) c.2082T>A (p.Phe694Leu) c.2538T>A (n.2538T>A) c.3936T>A (p.Phe1312Leu) c.3918T>A (p.Phe1306Leu)
22	g.50721772T>C	CA515263445	SHANK3	c.3540T>C (p.Phe1180=) n.4124T>C c.2592T>C (p.Phe864=) c.2082T>C (p.Phe694=) c.2538T>C (n.2538T>C) c.3936T>C (p.Phe1312=) c.3918T>C (p.Phe1306=)
22	g.50721772T>G	CA515263444	SHANK3	c.3540T>G (p.Phe1180Leu) n.4124T>G c.2592T>G (p.Phe864Leu) c.2082T>G (p.Phe694Leu) c.2538T>G (n.2538T>G) c.3936T>G (p.Phe1312Leu) c.3918T>G (p.Phe1306Leu)
22	g.50721773G>A	CA515263446	SHANK3	c.3541G>A (p.Ala1181Thr) n.4125G>A c.2593G>A (p.Ala865Thr) c.2083G>A (p.Ala695Thr) c.2539G>A (n.2539G>A) c.3937G>A (p.Ala1313Thr) c.3919G>A (p.Ala1307Thr)
22	g.50721773G>C	CA515263448	SHANK3	c.3541G>C (p.Ala1181Pro) n.4125G>C c.2593G>C (p.Ala865Pro) c.2083G>C (p.Ala695Pro) c.2539G>C (n.2539G>C) c.3937G>C (p.Ala1313Pro) c.3919G>C (p.Ala1307Pro)
22	g.50721773G>T	CA515263447	SHANK3	c.3541G>T (p.Ala1181Ser) n.4125G>T c.2593G>T (p.Ala865Ser) c.2083G>T (p.Ala695Ser) c.2539G>T (n.2539G>T) c.3937G>T (p.Ala1313Ser) c.3919G>T (p.Ala1307Ser)
22	g.50721774C>A	CA515263449	SHANK3	c.3542C>A (p.Ala1181Asp) n.4126C>A c.2594C>A (p.Ala865Asp) c.2084C>A (p.Ala695Asp) c.2540C>A (n.2540C>A) c.3938C>A (p.Ala1313Asp) c.3920C>A (p.Ala1307Asp)
22	g.50721774C>G	CA515263450	SHANK3	c.3542C>G (p.Ala1181Gly) n.4126C>G c.2594C>G (p.Ala865Gly) c.2084C>G (p.Ala695Gly) c.2540C>G (n.2540C>G) c.3938C>G (p.Ala1313Gly) c.3920C>G (p.Ala1307Gly)
22	g.50721774C>T	CA515263451	SHANK3	c.3542C>T (p.Ala1181Val) n.4126C>T c.2594C>T (p.Ala865Val) c.2084C>T (p.Ala695Val) c.2540C>T (n.2540C>T) c.3938C>T (p.Ala1313Val) c.3920C>T (p.Ala1307Val)	gnomAD v4
22	g.50721775C>A	CA515263452	SHANK3	c.3543C>A (p.Ala1181=) n.4127C>A c.2595C>A (p.Ala865=) c.2085C>A (p.Ala695=) c.2541C>A (n.2541C>A) c.3939C>A (p.Ala1313=) c.3921C>A (p.Ala1307=)	gnomAD v4
22	g.50721775C=	CA2411008443	SHANK3	c.3543C= (p.Ala1181=) n.4127C= c.2595C= (p.Ala865=) c.2085C= (p.Ala695=) c.2541C= (n.2541C=) c.3939C= (p.Ala1313=) c.3921C= (p.Ala1307=)
22	g.50721775C>G	CA515263453	SHANK3	c.3543C>G (p.Ala1181=) n.4127C>G c.2595C>G (p.Ala865=) c.2085C>G (p.Ala695=) c.2541C>G (n.2541C>G) c.3939C>G (p.Ala1313=) c.3921C>G (p.Ala1307=)
22	g.50721775C>T	CA515263454	SHANK3	c.3543C>T (p.Ala1181=) n.4127C>T c.2595C>T (p.Ala865=) c.2085C>T (p.Ala695=) c.2541C>T (n.2541C>T) c.3939C>T (p.Ala1313=) c.3921C>T (p.Ala1307=)	dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
22	g.50721776A=	CA2411008444	SHANK3	c.3544A= (p.Asn1182=) n.4128A= c.2596A= (p.Asn866=) c.2086A= (p.Asn696=) c.2542A= (n.2542A=) c.3940A= (p.Asn1314=) c.3922A= (p.Asn1308=)
22	g.50721776A>C	CA515263455	SHANK3	c.3544A>C (p.Asn1182His) n.4128A>C c.2596A>C (p.Asn866His) c.2086A>C (p.Asn696His) c.2542A>C (n.2542A>C) c.3940A>C (p.Asn1314His) c.3922A>C (p.Asn1308His)	dbSNP
22	g.50721776A>G	CA515263456	SHANK3	c.3544A>G (p.Asn1182Asp) n.4128A>G c.2596A>G (p.Asn866Asp) c.2086A>G (p.Asn696Asp) c.2542A>G (n.2542A>G) c.3940A>G (p.Asn1314Asp) c.3922A>G (p.Asn1308Asp)
22	g.50721776A>T	CA515263457	SHANK3	c.3544A>T (p.Asn1182Tyr) n.4128A>T c.2596A>T (p.Asn866Tyr) c.2086A>T (p.Asn696Tyr) c.2542A>T (n.2542A>T) c.3940A>T (p.Asn1314Tyr) c.3922A>T (p.Asn1308Tyr)
22	g.50721777A=	CA2411008445	SHANK3	c.3545A= (p.Asn1182=) n.4129A= c.2597A= (p.Asn866=) c.2087A= (p.Asn696=) c.2543A= (n.2543A=) c.3941A= (p.Asn1314=) c.3923A= (p.Asn1308=)
22	g.50721777A>C	CA515263458	SHANK3	c.3545A>C (p.Asn1182Thr) n.4129A>C c.2597A>C (p.Asn866Thr) c.2087A>C (p.Asn696Thr) c.2543A>C (n.2543A>C) c.3941A>C (p.Asn1314Thr) c.3923A>C (p.Asn1308Thr)	ClinVar
22	g.50721777A>G	CA325579641	SHANK3	c.3545A>G (p.Asn1182Ser) n.4129A>G c.2597A>G (p.Asn866Ser) c.2087A>G (p.Asn696Ser) c.2543A>G (n.2543A>G) c.3941A>G (p.Asn1314Ser) c.3923A>G (p.Asn1308Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721777A>T	CA515263459	SHANK3	c.3545A>T (p.Asn1182Ile) n.4129A>T c.2597A>T (p.Asn866Ile) c.2087A>T (p.Asn696Ile) c.2543A>T (n.2543A>T) c.3941A>T (p.Asn1314Ile) c.3923A>T (p.Asn1308Ile)
22	g.50721778C>A	CA515263460	SHANK3	c.3546C>A (p.Asn1182Lys) n.4130C>A c.2598C>A (p.Asn866Lys) c.2088C>A (p.Asn696Lys) c.2544C>A (n.2544C>A) c.3942C>A (p.Asn1314Lys) c.3924C>A (p.Asn1308Lys)	gnomAD v4
22	g.50721778C=	CA2411008446	SHANK3	c.3546C= (p.Asn1182=) n.4130C= c.2598C= (p.Asn866=) c.2088C= (p.Asn696=) c.2544C= (n.2544C=) c.3942C= (p.Asn1314=) c.3924C= (p.Asn1308=)
22	g.50721778C>G	CA515263461	SHANK3	c.3546C>G (p.Asn1182Lys) n.4130C>G c.2598C>G (p.Asn866Lys) c.2088C>G (p.Asn696Lys) c.2544C>G (n.2544C>G) c.3942C>G (p.Asn1314Lys) c.3924C>G (p.Asn1308Lys)	ClinVar dbSNP gnomAD v4
22	g.50721778C>T	CA10326178	SHANK3	c.3546C>T (p.Asn1182=) n.4130C>T c.2598C>T (p.Asn866=) c.2088C>T (p.Asn696=) c.2544C>T (n.2544C>T) c.3942C>T (p.Asn1314=) c.3924C>T (p.Asn1308=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22	g.50721779G>A	CA515263462	SHANK3	c.3547G>A (p.Gly1183Arg) n.4131G>A c.2599G>A (p.Gly867Arg) c.2089G>A (p.Gly697Arg) c.2545G>A (n.2545G>A) c.3943G>A (p.Gly1315Arg) c.3925G>A (p.Gly1309Arg)	dbSNP gnomAD v2 gnomAD v4
22	g.50721779G>C	CA10326179	SHANK3	c.3547G>C (p.Gly1183Arg) n.4131G>C c.2599G>C (p.Gly867Arg) c.2089G>C (p.Gly697Arg) c.2545G>C (n.2545G>C) c.3943G>C (p.Gly1315Arg) c.3925G>C (p.Gly1309Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721779G=	CA2411008447	SHANK3	c.3547G= (p.Gly1183=) n.4131G= c.2599G= (p.Gly867=) c.2089G= (p.Gly697=) c.2545G= (n.2545G=) c.3943G= (p.Gly1315=) c.3925G= (p.Gly1309=)
22	g.50721779G>T	CA515263463	SHANK3	c.3547G>T (p.Gly1183Trp) n.4131G>T c.2599G>T (p.Gly867Trp) c.2089G>T (p.Gly697Trp) c.2545G>T (n.2545G>T) c.3943G>T (p.Gly1315Trp) c.3925G>T (p.Gly1309Trp)	gnomAD v4
22	g.50721780G>A	CA515263464	SHANK3	c.3548G>A (p.Gly1183Glu) n.4132G>A c.2600G>A (p.Gly867Glu) c.2090G>A (p.Gly697Glu) c.2546G>A (n.2546G>A) c.3944G>A (p.Gly1315Glu) c.3926G>A (p.Gly1309Glu)	dbSNP gnomAD v2 gnomAD v4
22	g.50721780G>C	CA515263465	SHANK3	c.3548G>C (p.Gly1183Ala) n.4132G>C c.2600G>C (p.Gly867Ala) c.2090G>C (p.Gly697Ala) c.2546G>C (n.2546G>C) c.3944G>C (p.Gly1315Ala) c.3926G>C (p.Gly1309Ala)
22	g.50721780G=	CA2411008448	SHANK3	c.3548G= (p.Gly1183=) n.4132G= c.2600G= (p.Gly867=) c.2090G= (p.Gly697=) c.2546G= (n.2546G=) c.3944G= (p.Gly1315=) c.3926G= (p.Gly1309=)
22	g.50721780G>T	CA515263466	SHANK3	c.3548G>T (p.Gly1183Val) n.4132G>T c.2600G>T (p.Gly867Val) c.2090G>T (p.Gly697Val) c.2546G>T (n.2546G>T) c.3944G>T (p.Gly1315Val) c.3926G>T (p.Gly1309Val)	gnomAD v4
22	g.50721781G>A	CA10326180	SHANK3	c.3549G>A (p.Gly1183=) n.4133G>A c.2601G>A (p.Gly867=) c.2091G>A (p.Gly697=) c.2547G>A (n.2547G>A) c.3945G>A (p.Gly1315=) c.3927G>A (p.Gly1309=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721781G>C	CA515263469	SHANK3	c.3549G>C (p.Gly1183=) n.4133G>C c.2601G>C (p.Gly867=) c.2091G>C (p.Gly697=) c.2547G>C (n.2547G>C) c.3945G>C (p.Gly1315=) c.3927G>C (p.Gly1309=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721781G=	CA2411008449	SHANK3	c.3549G= (p.Gly1183=) n.4133G= c.2601G= (p.Gly867=) c.2091G= (p.Gly697=) c.2547G= (n.2547G=) c.3945G= (p.Gly1315=) c.3927G= (p.Gly1309=)
22	g.50721781G>T	CA515263471	SHANK3	c.3549G>T (p.Gly1183=) n.4133G>T c.2601G>T (p.Gly867=) c.2091G>T (p.Gly697=) c.2547G>T (n.2547G>T) c.3945G>T (p.Gly1315=) c.3927G>T (p.Gly1309=)	gnomAD v4
22	g.50721782G>A	CA515263473	SHANK3	c.3550G>A (p.Val1184Ile) n.4134G>A c.2602G>A (p.Val868Ile) c.2092G>A (p.Val698Ile) c.2548G>A (n.2548G>A) c.3946G>A (p.Val1316Ile) c.3928G>A (p.Val1310Ile)	dbSNP gnomAD v4
22	g.50721782G>C	CA325579659	SHANK3	c.3550G>C (p.Val1184Leu) n.4134G>C c.2602G>C (p.Val868Leu) c.2092G>C (p.Val698Leu) c.2548G>C (n.2548G>C) c.3946G>C (p.Val1316Leu) c.3928G>C (p.Val1310Leu)	dbSNP
22	g.50721782G=	CA2411008450	SHANK3	c.3550G= (p.Val1184=) n.4134G= c.2602G= (p.Val868=) c.2092G= (p.Val698=) c.2548G= (n.2548G=) c.3946G= (p.Val1316=) c.3928G= (p.Val1310=)
22	g.50721782G>T	CA515263472	SHANK3	c.3550G>T (p.Val1184Phe) n.4134G>T c.2602G>T (p.Val868Phe) c.2092G>T (p.Val698Phe) c.2548G>T (n.2548G>T) c.3946G>T (p.Val1316Phe) c.3928G>T (p.Val1310Phe)	gnomAD v4
22	g.50721783T>A	CA515263474	SHANK3	c.3551T>A (p.Val1184Asp) n.4135T>A c.2603T>A (p.Val868Asp) c.2093T>A (p.Val698Asp) c.2549T>A (n.2549T>A) c.3947T>A (p.Val1316Asp) c.3929T>A (p.Val1310Asp)	gnomAD v4
22	g.50721783T>C	CA515263475	SHANK3	c.3551T>C (p.Val1184Ala) n.4135T>C c.2603T>C (p.Val868Ala) c.2093T>C (p.Val698Ala) c.2549T>C (n.2549T>C) c.3947T>C (p.Val1316Ala) c.3929T>C (p.Val1310Ala)
22	g.50721783T>G	CA515263477	SHANK3	c.3551T>G (p.Val1184Gly) n.4135T>G c.2603T>G (p.Val868Gly) c.2093T>G (p.Val698Gly) c.2549T>G (n.2549T>G) c.3947T>G (p.Val1316Gly) c.3929T>G (p.Val1310Gly)	dbSNP
22	g.50721783T=	CA2411008451	SHANK3	c.3551T= (p.Val1184=) n.4135T= c.2603T= (p.Val868=) c.2093T= (p.Val698=) c.2549T= (n.2549T=) c.3947T= (p.Val1316=) c.3929T= (p.Val1310=)
22	g.50721784C>A	CA10326181	SHANK3	c.3552C>A (p.Val1184=) n.4136C>A c.2604C>A (p.Val868=) c.2094C>A (p.Val698=) c.2550C>A (n.2550C>A) c.3948C>A (p.Val1316=) c.3930C>A (p.Val1310=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721784C=	CA2411008452	SHANK3	c.3552C= (p.Val1184=) n.4136C= c.2604C= (p.Val868=) c.2094C= (p.Val698=) c.2550C= (n.2550C=) c.3948C= (p.Val1316=) c.3930C= (p.Val1310=)
22	g.50721784C>G	CA515263480	SHANK3	c.3552C>G (p.Val1184=) n.4136C>G c.2604C>G (p.Val868=) c.2094C>G (p.Val698=) c.2550C>G (n.2550C>G) c.3948C>G (p.Val1316=) c.3930C>G (p.Val1310=)
22	g.50721784C>T	CA515263481	SHANK3	c.3552C>T (p.Val1184=) n.4136C>T c.2604C>T (p.Val868=) c.2094C>T (p.Val698=) c.2550C>T (n.2550C>T) c.3948C>T (p.Val1316=) c.3930C>T (p.Val1310=)	gnomAD v4
22	g.50721785C>A	CA515263482	SHANK3	c.3553C>A (p.Leu1185Met) n.4137C>A c.2605C>A (p.Leu869Met) c.2095C>A (p.Leu699Met) c.2551C>A (n.2551C>A) c.3949C>A (p.Leu1317Met) c.3931C>A (p.Leu1311Met)	COSMIC COSMIC
22	g.50721785C=	CA2411008453	SHANK3	c.3553C= (p.Leu1185=) n.4137C= c.2605C= (p.Leu869=) c.2095C= (p.Leu699=) c.2551C= (n.2551C=) c.3949C= (p.Leu1317=) c.3931C= (p.Leu1311=)
22	g.50721785C>G	CA515263483	SHANK3	c.3553C>G (p.Leu1185Val) n.4137C>G c.2605C>G (p.Leu869Val) c.2095C>G (p.Leu699Val) c.2551C>G (n.2551C>G) c.3949C>G (p.Leu1317Val) c.3931C>G (p.Leu1311Val)
22	g.50721785C>T	CA515263484	SHANK3	c.3553C>T (p.Leu1185=) n.4137C>T c.2605C>T (p.Leu869=) c.2095C>T (p.Leu699=) c.2551C>T (n.2551C>T) c.3949C>T (p.Leu1317=) c.3931C>T (p.Leu1311=)	dbSNP gnomAD v4
22	g.50721788_50721790del	CA2657581331	SHANK3	c.3556_3558del (p.Leu1186del) n.4140_4142del c.2608_2610del (p.Leu870del) c.2098_2100del (p.Leu700del) c.2554_2556del (n.2554_2556del) c.3952_3954del (p.Leu1318del) c.3934_3936del (p.Leu1312del)	gnomAD v4
22	g.50721786T>A	CA515263485	SHANK3	c.3554T>A (p.Leu1185Gln) n.4138T>A c.2606T>A (p.Leu869Gln) c.2096T>A (p.Leu699Gln) c.2552T>A (n.2552T>A) c.3950T>A (p.Leu1317Gln) c.3932T>A (p.Leu1311Gln)
22	g.50721786T>C	CA515263486	SHANK3	c.3554T>C (p.Leu1185Pro) n.4138T>C c.2606T>C (p.Leu869Pro) c.2096T>C (p.Leu699Pro) c.2552T>C (n.2552T>C) c.3950T>C (p.Leu1317Pro) c.3932T>C (p.Leu1311Pro)
22	g.50721786T>G	CA515263487	SHANK3	c.3554T>G (p.Leu1185Arg) n.4138T>G c.2606T>G (p.Leu869Arg) c.2096T>G (p.Leu699Arg) c.2552T>G (n.2552T>G) c.3950T>G (p.Leu1317Arg) c.3932T>G (p.Leu1311Arg)
22	g.50721787G>A	CA515263490	SHANK3	c.3555G>A (p.Leu1185=) n.4139G>A c.2607G>A (p.Leu869=) c.2097G>A (p.Leu699=) c.2553G>A (n.2553G>A) c.3951G>A (p.Leu1317=) c.3933G>A (p.Leu1311=)	gnomAD v4
22	g.50721787G>C	CA325579673	SHANK3	c.3555G>C (p.Leu1185=) n.4139G>C c.2607G>C (p.Leu869=) c.2097G>C (p.Leu699=) c.2553G>C (n.2553G>C) c.3951G>C (p.Leu1317=) c.3933G>C (p.Leu1311=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721787G=	CA2411008454	SHANK3	c.3555G= (p.Leu1185=) n.4139G= c.2607G= (p.Leu869=) c.2097G= (p.Leu699=) c.2553G= (n.2553G=) c.3951G= (p.Leu1317=) c.3933G= (p.Leu1311=)
22	g.50721787G>T	CA515263489	SHANK3	c.3555G>T (p.Leu1185=) n.4139G>T c.2607G>T (p.Leu869=) c.2097G>T (p.Leu699=) c.2553G>T (n.2553G>T) c.3951G>T (p.Leu1317=) c.3933G>T (p.Leu1311=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721788C>A	CA515263491	SHANK3	c.3556C>A (p.Leu1186Met) n.4140C>A c.2608C>A (p.Leu870Met) c.2098C>A (p.Leu700Met) c.2554C>A (n.2554C>A) c.3952C>A (p.Leu1318Met) c.3934C>A (p.Leu1312Met)	gnomAD v4
22	g.50721788C=	CA2411008455	SHANK3	c.3556C= (p.Leu1186=) n.4140C= c.2608C= (p.Leu870=) c.2098C= (p.Leu700=) c.2554C= (n.2554C=) c.3952C= (p.Leu1318=) c.3934C= (p.Leu1312=)
22	g.50721788C>G	CA515263492	SHANK3	c.3556C>G (p.Leu1186Val) n.4140C>G c.2608C>G (p.Leu870Val) c.2098C>G (p.Leu700Val) c.2554C>G (n.2554C>G) c.3952C>G (p.Leu1318Val) c.3934C>G (p.Leu1312Val)	dbSNP gnomAD v3 gnomAD v4
22	g.50721788C>T	CA10326182	SHANK3	c.3556C>T (p.Leu1186=) n.4140C>T c.2608C>T (p.Leu870=) c.2098C>T (p.Leu700=) c.2554C>T (n.2554C>T) c.3952C>T (p.Leu1318=) c.3934C>T (p.Leu1312=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721789T>A	CA515263493	SHANK3	c.3557T>A (p.Leu1186Gln) n.4141T>A c.2609T>A (p.Leu870Gln) c.2099T>A (p.Leu700Gln) c.2555T>A (n.2555T>A) c.3953T>A (p.Leu1318Gln) c.3935T>A (p.Leu1312Gln)
22	g.50721789T>C	CA515263494	SHANK3	c.3557T>C (p.Leu1186Pro) n.4141T>C c.2609T>C (p.Leu870Pro) c.2099T>C (p.Leu700Pro) c.2555T>C (n.2555T>C) c.3953T>C (p.Leu1318Pro) c.3935T>C (p.Leu1312Pro)
22	g.50721789T>G	CA515263495	SHANK3	c.3557T>G (p.Leu1186Arg) n.4141T>G c.2609T>G (p.Leu870Arg) c.2099T>G (p.Leu700Arg) c.2555T>G (n.2555T>G) c.3953T>G (p.Leu1318Arg) c.3935T>G (p.Leu1312Arg)	ClinVar
22	g.50721790G>A	CA515263496	SHANK3	c.3558G>A (p.Leu1186=) n.4142G>A c.2610G>A (p.Leu870=) c.2100G>A (p.Leu700=) c.2556G>A (n.2556G>A) c.3954G>A (p.Leu1318=) c.3936G>A (p.Leu1312=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721790G>C	CA515263497	SHANK3	c.3558G>C (p.Leu1186=) n.4142G>C c.2610G>C (p.Leu870=) c.2100G>C (p.Leu700=) c.2556G>C (n.2556G>C) c.3954G>C (p.Leu1318=) c.3936G>C (p.Leu1312=)
22	g.50721790G=	CA2411008456	SHANK3	c.3558G= (p.Leu1186=) n.4142G= c.2610G= (p.Leu870=) c.2100G= (p.Leu700=) c.2556G= (n.2556G=) c.3954G= (p.Leu1318=) c.3936G= (p.Leu1312=)
22	g.50721790G>T	CA515263498	SHANK3	c.3558G>T (p.Leu1186=) n.4142G>T c.2610G>T (p.Leu870=) c.2100G>T (p.Leu700=) c.2556G>T (n.2556G>T) c.3954G>T (p.Leu1318=) c.3936G>T (p.Leu1312=)
22	g.50721791G>A	CA515263499	SHANK3	c.3559G>A (p.Ala1187Thr) n.4143G>A c.2611G>A (p.Ala871Thr) c.2101G>A (p.Ala701Thr) c.2557G>A (n.2557G>A) c.3955G>A (p.Ala1319Thr) c.3937G>A (p.Ala1313Thr)	dbSNP
22	g.50721791G>C	CA10326183	SHANK3	c.3559G>C (p.Ala1187Pro) n.4143G>C c.2611G>C (p.Ala871Pro) c.2101G>C (p.Ala701Pro) c.2557G>C (n.2557G>C) c.3955G>C (p.Ala1319Pro) c.3937G>C (p.Ala1313Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721791G=	CA2411008457	SHANK3	c.3559G= (p.Ala1187=) n.4143G= c.2611G= (p.Ala871=) c.2101G= (p.Ala701=) c.2557G= (n.2557G=) c.3955G= (p.Ala1319=) c.3937G= (p.Ala1313=)
22	g.50721791G>T	CA325579676	SHANK3	c.3559G>T (p.Ala1187Ser) n.4143G>T c.2611G>T (p.Ala871Ser) c.2101G>T (p.Ala701Ser) c.2557G>T (n.2557G>T) c.3955G>T (p.Ala1319Ser) c.3937G>T (p.Ala1313Ser)	dbSNP gnomAD v3 gnomAD v4
22	g.50721792C>A	CA515263504	SHANK3	c.3560C>A (p.Ala1187Asp) n.4144C>A c.2612C>A (p.Ala871Asp) c.2102C>A (p.Ala701Asp) c.2558C>A (n.2558C>A) c.3956C>A (p.Ala1319Asp) c.3938C>A (p.Ala1313Asp)	gnomAD v4
22	g.50721792C=	CA2411008458	SHANK3	c.3560C= (p.Ala1187=) n.4144C= c.2612C= (p.Ala871=) c.2102C= (p.Ala701=) c.2558C= (n.2558C=) c.3956C= (p.Ala1319=) c.3938C= (p.Ala1313=)
22	g.50721792C>G	CA515263503	SHANK3	c.3560C>G (p.Ala1187Gly) n.4144C>G c.2612C>G (p.Ala871Gly) c.2102C>G (p.Ala701Gly) c.2558C>G (n.2558C>G) c.3956C>G (p.Ala1319Gly) c.3938C>G (p.Ala1313Gly)
22	g.50721792C>T	CA515263502	SHANK3	c.3560C>T (p.Ala1187Val) n.4144C>T c.2612C>T (p.Ala871Val) c.2102C>T (p.Ala701Val) c.2558C>T (n.2558C>T) c.3956C>T (p.Ala1319Val) c.3938C>T (p.Ala1313Val)	dbSNP gnomAD v2 gnomAD v4
22	g.50721793C>A	CA515263505	SHANK3	c.3561C>A (p.Ala1187=) n.4145C>A c.2613C>A (p.Ala871=) c.2103C>A (p.Ala701=) c.2559C>A (n.2559C>A) c.3957C>A (p.Ala1319=) c.3939C>A (p.Ala1313=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721793C=	CA2411008459	SHANK3	c.3561C= (p.Ala1187=) n.4145C= c.2613C= (p.Ala871=) c.2103C= (p.Ala701=) c.2559C= (n.2559C=) c.3957C= (p.Ala1319=) c.3939C= (p.Ala1313=)
22	g.50721793C>G	CA515263506	SHANK3	c.3561C>G (p.Ala1187=) n.4145C>G c.2613C>G (p.Ala871=) c.2103C>G (p.Ala701=) c.2559C>G (n.2559C>G) c.3957C>G (p.Ala1319=) c.3939C>G (p.Ala1313=)
22	g.50721793C>T	CA515263507	SHANK3	c.3561C>T (p.Ala1187=) n.4145C>T c.2613C>T (p.Ala871=) c.2103C>T (p.Ala701=) c.2559C>T (n.2559C>T) c.3957C>T (p.Ala1319=) c.3939C>T (p.Ala1313=)	gnomAD v4
22	g.50721794A=	CA2411008460	SHANK3	c.3562A= (p.Thr1188=) n.4146A= c.2614A= (p.Thr872=) c.2104A= (p.Thr702=) c.2560A= (n.2560A=) c.3958A= (p.Thr1320=) c.3940A= (p.Thr1314=)
22	g.50721794A>C	CA515263508	SHANK3	c.3562A>C (p.Thr1188Pro) n.4146A>C c.2614A>C (p.Thr872Pro) c.2104A>C (p.Thr702Pro) c.2560A>C (n.2560A>C) c.3958A>C (p.Thr1320Pro) c.3940A>C (p.Thr1314Pro)
22	g.50721794A>G	CA515263509	SHANK3	c.3562A>G (p.Thr1188Ala) n.4146A>G c.2614A>G (p.Thr872Ala) c.2104A>G (p.Thr702Ala) c.2560A>G (n.2560A>G) c.3958A>G (p.Thr1320Ala) c.3940A>G (p.Thr1314Ala)
22	g.50721794A>T	CA515263510	SHANK3	c.3562A>T (p.Thr1188Ser) n.4146A>T c.2614A>T (p.Thr872Ser) c.2104A>T (p.Thr702Ser) c.2560A>T (n.2560A>T) c.3958A>T (p.Thr1320Ser) c.3940A>T (p.Thr1314Ser)	dbSNP gnomAD v2
22	g.50721795C>A	CA515263516	SHANK3	c.3563C>A (p.Thr1188Asn) n.4147C>A c.2615C>A (p.Thr872Asn) c.2105C>A (p.Thr702Asn) c.2561C>A (n.2561C>A) c.3959C>A (p.Thr1320Asn) c.3941C>A (p.Thr1314Asn)
22	g.50721795C=	CA2411008461	SHANK3	c.3563C= (p.Thr1188=) n.4147C= c.2615C= (p.Thr872=) c.2105C= (p.Thr702=) c.2561C= (n.2561C=) c.3959C= (p.Thr1320=) c.3941C= (p.Thr1314=)
22	g.50721795C>G	CA515263514	SHANK3	c.3563C>G (p.Thr1188Ser) n.4147C>G c.2615C>G (p.Thr872Ser) c.2105C>G (p.Thr702Ser) c.2561C>G (n.2561C>G) c.3959C>G (p.Thr1320Ser) c.3941C>G (p.Thr1314Ser)
22	g.50721795C>T	CA515263512	SHANK3	c.3563C>T (p.Thr1188Ile) n.4147C>T c.2615C>T (p.Thr872Ile) c.2105C>T (p.Thr702Ile) c.2561C>T (n.2561C>T) c.3959C>T (p.Thr1320Ile) c.3941C>T (p.Thr1314Ile)	dbSNP gnomAD v4
22	g.50721798del	CA2657581347	SHANK3	c.3566del (p.Pro1189HisfsTer?) n.4150del c.2618del (p.Pro873HisfsTer?) c.2108del (p.Pro703HisfsTer?) c.2564del (n.2564del) c.3962del (p.Pro1321HisfsTer?) c.3944del (p.Pro1315HisfsTer?)	gnomAD v4
22	g.50721796C>A	CA515263517	SHANK3	c.3564C>A (p.Thr1188=) n.4148C>A c.2616C>A (p.Thr872=) c.2106C>A (p.Thr702=) c.2562C>A (n.2562C>A) c.3960C>A (p.Thr1320=) c.3942C>A (p.Thr1314=)
22	g.50721796C=	CA2411008462	SHANK3	c.3564C= (p.Thr1188=) n.4148C= c.2616C= (p.Thr872=) c.2106C= (p.Thr702=) c.2562C= (n.2562C=) c.3960C= (p.Thr1320=) c.3942C= (p.Thr1314=)
22	g.50721796C>G	CA515263518	SHANK3	c.3564C>G (p.Thr1188=) n.4148C>G c.2616C>G (p.Thr872=) c.2106C>G (p.Thr702=) c.2562C>G (n.2562C>G) c.3960C>G (p.Thr1320=) c.3942C>G (p.Thr1314=)
22	g.50721796C>T	CA515263519	SHANK3	c.3564C>T (p.Thr1188=) n.4148C>T c.2616C>T (p.Thr872=) c.2106C>T (p.Thr702=) c.2562C>T (n.2562C>T) c.3960C>T (p.Thr1320=) c.3942C>T (p.Thr1314=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721797C>A	CA515263520	SHANK3	c.3565C>A (p.Pro1189Thr) n.4149C>A c.2617C>A (p.Pro873Thr) c.2107C>A (p.Pro703Thr) c.2563C>A (n.2563C>A) c.3961C>A (p.Pro1321Thr) c.3943C>A (p.Pro1315Thr)	gnomAD v4
22	g.50721797C=	CA2411008463	SHANK3	c.3565C= (p.Pro1189=) n.4149C= c.2617C= (p.Pro873=) c.2107C= (p.Pro703=) c.2563C= (n.2563C=) c.3961C= (p.Pro1321=) c.3943C= (p.Pro1315=)
22	g.50721797C>G	CA515263521	SHANK3	c.3565C>G (p.Pro1189Ala) n.4149C>G c.2617C>G (p.Pro873Ala) c.2107C>G (p.Pro703Ala) c.2563C>G (n.2563C>G) c.3961C>G (p.Pro1321Ala) c.3943C>G (p.Pro1315Ala)
22	g.50721797C>T	CA515263522	SHANK3	c.3565C>T (p.Pro1189Ser) n.4149C>T c.2617C>T (p.Pro873Ser) c.2107C>T (p.Pro703Ser) c.2563C>T (n.2563C>T) c.3961C>T (p.Pro1321Ser) c.3943C>T (p.Pro1315Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.50721798C>A	CA515263523	SHANK3	c.3566C>A (p.Pro1189Gln) n.4150C>A c.2618C>A (p.Pro873Gln) c.2108C>A (p.Pro703Gln) c.2564C>A (n.2564C>A) c.3962C>A (p.Pro1321Gln) c.3944C>A (p.Pro1315Gln)
22	g.50721798C=	CA2411008464	SHANK3	c.3566C= (p.Pro1189=) n.4150C= c.2618C= (p.Pro873=) c.2108C= (p.Pro703=) c.2564C= (n.2564C=) c.3962C= (p.Pro1321=) c.3944C= (p.Pro1315=)
22	g.50721798C>G	CA515263526	SHANK3	c.3566C>G (p.Pro1189Arg) n.4150C>G c.2618C>G (p.Pro873Arg) c.2108C>G (p.Pro703Arg) c.2564C>G (n.2564C>G) c.3962C>G (p.Pro1321Arg) c.3944C>G (p.Pro1315Arg)
22	g.50721798C>T	CA515263524	SHANK3	c.3566C>T (p.Pro1189Leu) n.4150C>T c.2618C>T (p.Pro873Leu) c.2108C>T (p.Pro703Leu) c.2564C>T (n.2564C>T) c.3962C>T (p.Pro1321Leu) c.3944C>T (p.Pro1315Leu)	dbSNP gnomAD v4
22	g.50721799A=	CA2411008465	SHANK3	c.3567A= (p.Pro1189=) n.4151A= c.2619A= (p.Pro873=) c.2109A= (p.Pro703=) c.2565A= (n.2565A=) c.3963A= (p.Pro1321=) c.3945A= (p.Pro1315=)
22	g.50721799A>C	CA515263528	SHANK3	c.3567A>C (p.Pro1189=) n.4151A>C c.2619A>C (p.Pro873=) c.2109A>C (p.Pro703=) c.2565A>C (n.2565A>C) c.3963A>C (p.Pro1321=) c.3945A>C (p.Pro1315=)
22	g.50721799A>G	CA515263530	SHANK3	c.3567A>G (p.Pro1189=) n.4151A>G c.2619A>G (p.Pro873=) c.2109A>G (p.Pro703=) c.2565A>G (n.2565A>G) c.3963A>G (p.Pro1321=) c.3945A>G (p.Pro1315=)
22	g.50721799A>T	CA515263531	SHANK3	c.3567A>T (p.Pro1189=) n.4151A>T c.2619A>T (p.Pro873=) c.2109A>T (p.Pro703=) c.2565A>T (n.2565A>T) c.3963A>T (p.Pro1321=) c.3945A>T (p.Pro1315=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721800C>A	CA515263532	SHANK3	c.3568C>A (p.Leu1190Ile) n.4152C>A c.2620C>A (p.Leu874Ile) c.2110C>A (p.Leu704Ile) c.2566C>A (n.2566C>A) c.3964C>A (p.Leu1322Ile) c.3946C>A (p.Leu1316Ile)
22	g.50721800C>G	CA515263533	SHANK3	c.3568C>G (p.Leu1190Val) n.4152C>G c.2620C>G (p.Leu874Val) c.2110C>G (p.Leu704Val) c.2566C>G (n.2566C>G) c.3964C>G (p.Leu1322Val) c.3946C>G (p.Leu1316Val)
22	g.50721800C>T	CA515263534	SHANK3	c.3568C>T (p.Leu1190Phe) n.4152C>T c.2620C>T (p.Leu874Phe) c.2110C>T (p.Leu704Phe) c.2566C>T (n.2566C>T) c.3964C>T (p.Leu1322Phe) c.3946C>T (p.Leu1316Phe)
22	g.50721800_50721801delinsCT	CA2411008466	SHANK3	c.3568_3569delinsCT (p.Leu1190=) n.4152_4153delinsCT c.2620_2621delinsCT (p.Leu874=) c.2110_2111delinsCT (p.Leu704=) c.2566_2567delinsCT (n.2566_2567delinsCT) c.3964_3965delinsCT (p.Leu1322=) c.3946_3947delinsCT (p.Leu1316=)
22	g.50721801del	CA1139667209	SHANK3	c.3569del (p.Leu1190ProfsTer?) n.4153del c.2621del (p.Leu874ProfsTer?) c.2111del (p.Leu704ProfsTer?) c.2567del (n.2567del) c.3965del (p.Leu1322ProfsTer?) c.3947del (p.Leu1316ProfsTer?)	ClinVar dbSNP
22	g.50721801T>A	CA515263535	SHANK3	c.3569T>A (p.Leu1190His) n.4153T>A c.2621T>A (p.Leu874His) c.2111T>A (p.Leu704His) c.2567T>A (n.2567T>A) c.3965T>A (p.Leu1322His) c.3947T>A (p.Leu1316His)
22	g.50721801T>C	CA515263536	SHANK3	c.3569T>C (p.Leu1190Pro) n.4153T>C c.2621T>C (p.Leu874Pro) c.2111T>C (p.Leu704Pro) c.2567T>C (n.2567T>C) c.3965T>C (p.Leu1322Pro) c.3947T>C (p.Leu1316Pro)
22	g.50721801T>G	CA515263537	SHANK3	c.3569T>G (p.Leu1190Arg) n.4153T>G c.2621T>G (p.Leu874Arg) c.2111T>G (p.Leu704Arg) c.2567T>G (n.2567T>G) c.3965T>G (p.Leu1322Arg) c.3947T>G (p.Leu1316Arg)
22	g.50721802C>A	CA10326184	SHANK3	c.3570C>A (p.Leu1190=) n.4154C>A c.2622C>A (p.Leu874=) c.2112C>A (p.Leu704=) c.2568C>A (n.2568C>A) c.3966C>A (p.Leu1322=) c.3948C>A (p.Leu1316=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.50721802C=	CA2411008467	SHANK3	c.3570C= (p.Leu1190=) n.4154C= c.2622C= (p.Leu874=) c.2112C= (p.Leu704=) c.2568C= (n.2568C=) c.3966C= (p.Leu1322=) c.3948C= (p.Leu1316=)
22	g.50721802C>G	CA515263538	SHANK3	c.3570C>G (p.Leu1190=) n.4154C>G c.2622C>G (p.Leu874=) c.2112C>G (p.Leu704=) c.2568C>G (n.2568C>G) c.3966C>G (p.Leu1322=) c.3948C>G (p.Leu1316=)
22	g.50721802C>T	CA515263540	SHANK3	c.3570C>T (p.Leu1190=) n.4154C>T c.2622C>T (p.Leu874=) c.2112C>T (p.Leu704=) c.2568C>T (n.2568C>T) c.3966C>T (p.Leu1322=) c.3948C>T (p.Leu1316=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721803G>A	CA10326185	SHANK3	c.3571G>A (p.Ala1191Thr) n.4155G>A c.2623G>A (p.Ala875Thr) c.2113G>A (p.Ala705Thr) c.2569G>A (n.2569G>A) c.3967G>A (p.Ala1323Thr) c.3949G>A (p.Ala1317Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721803G>C	CA515263544	SHANK3	c.3571G>C (p.Ala1191Pro) n.4155G>C c.2623G>C (p.Ala875Pro) c.2113G>C (p.Ala705Pro) c.2569G>C (n.2569G>C) c.3967G>C (p.Ala1323Pro) c.3949G>C (p.Ala1317Pro)	dbSNP gnomAD v2 gnomAD v4
22	g.50721803G=	CA2411008468	SHANK3	c.3571G= (p.Ala1191=) n.4155G= c.2623G= (p.Ala875=) c.2113G= (p.Ala705=) c.2569G= (n.2569G=) c.3967G= (p.Ala1323=) c.3949G= (p.Ala1317=)
22	g.50721803G>T	CA515263543	SHANK3	c.3571G>T (p.Ala1191Ser) n.4155G>T c.2623G>T (p.Ala875Ser) c.2113G>T (p.Ala705Ser) c.2569G>T (n.2569G>T) c.3967G>T (p.Ala1323Ser) c.3949G>T (p.Ala1317Ser)	gnomAD v4
22	g.50721804C>A	CA515263545	SHANK3	c.3572C>A (p.Ala1191Asp) n.4156C>A c.2624C>A (p.Ala875Asp) c.2114C>A (p.Ala705Asp) c.2570C>A (n.2570C>A) c.3968C>A (p.Ala1323Asp) c.3950C>A (p.Ala1317Asp)
22	g.50721804C>G	CA515263546	SHANK3	c.3572C>G (p.Ala1191Gly) n.4156C>G c.2624C>G (p.Ala875Gly) c.2114C>G (p.Ala705Gly) c.2570C>G (n.2570C>G) c.3968C>G (p.Ala1323Gly) c.3950C>G (p.Ala1317Gly)
22	g.50721804C>T	CA515263547	SHANK3	c.3572C>T (p.Ala1191Val) n.4156C>T c.2624C>T (p.Ala875Val) c.2114C>T (p.Ala705Val) c.2570C>T (n.2570C>T) c.3968C>T (p.Ala1323Val) c.3950C>T (p.Ala1317Val)
22	g.50721805T>A	CA515263548	SHANK3	c.3573T>A (p.Ala1191=) n.4157T>A c.2625T>A (p.Ala875=) c.2115T>A (p.Ala705=) c.2571T>A (n.2571T>A) c.3969T>A (p.Ala1323=) c.3951T>A (p.Ala1317=)
22	g.50721805T>C	CA515263549	SHANK3	c.3573T>C (p.Ala1191=) n.4157T>C c.2625T>C (p.Ala875=) c.2115T>C (p.Ala705=) c.2571T>C (n.2571T>C) c.3969T>C (p.Ala1323=) c.3951T>C (p.Ala1317=)	dbSNP gnomAD v2 gnomAD v4
22	g.50721805T>G	CA515263550	SHANK3	c.3573T>G (p.Ala1191=) n.4157T>G c.2625T>G (p.Ala875=) c.2115T>G (p.Ala705=) c.2571T>G (n.2571T>G) c.3969T>G (p.Ala1323=) c.3951T>G (p.Ala1317=)	gnomAD v4
22	g.50721805T=	CA2411008469	SHANK3	c.3573T= (p.Ala1191=) n.4157T= c.2625T= (p.Ala875=) c.2115T= (p.Ala705=) c.2571T= (n.2571T=) c.3969T= (p.Ala1323=) c.3951T= (p.Ala1317=)
22	g.50721806G>A	CA515263551	SHANK3	c.3574G>A (p.Gly1192Ser) n.4158G>A c.2626G>A (p.Gly876Ser) c.2116G>A (p.Gly706Ser) c.2572G>A (n.2572G>A) c.3970G>A (p.Gly1324Ser) c.3952G>A (p.Gly1318Ser)	ClinVar
22	g.50721806G>C	CA515263552	SHANK3	c.3574G>C (p.Gly1192Arg) n.4158G>C c.2626G>C (p.Gly876Arg) c.2116G>C (p.Gly706Arg) c.2572G>C (n.2572G>C) c.3970G>C (p.Gly1324Arg) c.3952G>C (p.Gly1318Arg)
22	g.50721806G=	CA2411008470	SHANK3	c.3574G= (p.Gly1192=) n.4158G= c.2626G= (p.Gly876=) c.2116G= (p.Gly706=) c.2572G= (n.2572G=) c.3970G= (p.Gly1324=) c.3952G= (p.Gly1318=)
22	g.50721806G>T	CA515263554	SHANK3	c.3574G>T (p.Gly1192Cys) n.4158G>T c.2626G>T (p.Gly876Cys) c.2116G>T (p.Gly706Cys) c.2572G>T (n.2572G>T) c.3970G>T (p.Gly1324Cys) c.3952G>T (p.Gly1318Cys)	dbSNP gnomAD v2 gnomAD v4
22	g.50721807G>A	CA515263556	SHANK3	c.3575G>A (p.Gly1192Asp) n.4159G>A c.2627G>A (p.Gly876Asp) c.2117G>A (p.Gly706Asp) c.2573G>A (n.2573G>A) c.3971G>A (p.Gly1324Asp) c.3953G>A (p.Gly1318Asp)	dbSNP gnomAD v2 gnomAD v4
22	g.50721807G>C	CA515263557	SHANK3	c.3575G>C (p.Gly1192Ala) n.4159G>C c.2627G>C (p.Gly876Ala) c.2117G>C (p.Gly706Ala) c.2573G>C (n.2573G>C) c.3971G>C (p.Gly1324Ala) c.3953G>C (p.Gly1318Ala)
22	g.50721807G=	CA2411008471	SHANK3	c.3575G= (p.Gly1192=) n.4159G= c.2627G= (p.Gly876=) c.2117G= (p.Gly706=) c.2573G= (n.2573G=) c.3971G= (p.Gly1324=) c.3953G= (p.Gly1318=)
22	g.50721807G>T	CA515263558	SHANK3	c.3575G>T (p.Gly1192Val) n.4159G>T c.2627G>T (p.Gly876Val) c.2117G>T (p.Gly706Val) c.2573G>T (n.2573G>T) c.3971G>T (p.Gly1324Val) c.3953G>T (p.Gly1318Val)	gnomAD v4
22	g.50721808C>A	CA515263561	SHANK3	c.3576C>A (p.Gly1192=) n.4160C>A c.2628C>A (p.Gly876=) c.2118C>A (p.Gly706=) c.2574C>A (n.2574C>A) c.3972C>A (p.Gly1324=) c.3954C>A (p.Gly1318=)
22	g.50721808C=	CA2411008472	SHANK3	c.3576C= (p.Gly1192=) n.4160C= c.2628C= (p.Gly876=) c.2118C= (p.Gly706=) c.2574C= (n.2574C=) c.3972C= (p.Gly1324=) c.3954C= (p.Gly1318=)
22	g.50721808C>G	CA515263559	SHANK3	c.3576C>G (p.Gly1192=) n.4160C>G c.2628C>G (p.Gly876=) c.2118C>G (p.Gly706=) c.2574C>G (n.2574C>G) c.3972C>G (p.Gly1324=) c.3954C>G (p.Gly1318=)
22	g.50721808C>T	CA515263560	SHANK3	c.3576C>T (p.Gly1192=) n.4160C>T c.2628C>T (p.Gly876=) c.2118C>T (p.Gly706=) c.2574C>T (n.2574C>T) c.3972C>T (p.Gly1324=) c.3954C>T (p.Gly1318=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721809C>A	CA515263562	SHANK3	c.3577C>A (p.Pro1193Thr) n.4161C>A c.2629C>A (p.Pro877Thr) c.2119C>A (p.Pro707Thr) c.2575C>A (n.2575C>A) c.3973C>A (p.Pro1325Thr) c.3955C>A (p.Pro1319Thr)	gnomAD v4
22	g.50721809C=	CA2411008473	SHANK3	c.3577C= (p.Pro1193=) n.4161C= c.2629C= (p.Pro877=) c.2119C= (p.Pro707=) c.2575C= (n.2575C=) c.3973C= (p.Pro1325=) c.3955C= (p.Pro1319=)
22	g.50721809C>G	CA515263563	SHANK3	c.3577C>G (p.Pro1193Ala) n.4161C>G c.2629C>G (p.Pro877Ala) c.2119C>G (p.Pro707Ala) c.2575C>G (n.2575C>G) c.3973C>G (p.Pro1325Ala) c.3955C>G (p.Pro1319Ala)
22	g.50721809C>T	CA10326186	SHANK3	c.3577C>T (p.Pro1193Ser) n.4161C>T c.2629C>T (p.Pro877Ser) c.2119C>T (p.Pro707Ser) c.2575C>T (n.2575C>T) c.3973C>T (p.Pro1325Ser) c.3955C>T (p.Pro1319Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721810C>A	CA515263566	SHANK3	c.3578C>A (p.Pro1193Gln) n.4162C>A c.2630C>A (p.Pro877Gln) c.2120C>A (p.Pro707Gln) c.2576C>A (n.2576C>A) c.3974C>A (p.Pro1325Gln) c.3956C>A (p.Pro1319Gln)
22	g.50721810C=	CA2411008474	SHANK3	c.3578C= (p.Pro1193=) n.4162C= c.2630C= (p.Pro877=) c.2120C= (p.Pro707=) c.2576C= (n.2576C=) c.3974C= (p.Pro1325=) c.3956C= (p.Pro1319=)
22	g.50721810C>G	CA515263568	SHANK3	c.3578C>G (p.Pro1193Arg) n.4162C>G c.2630C>G (p.Pro877Arg) c.2120C>G (p.Pro707Arg) c.2576C>G (n.2576C>G) c.3974C>G (p.Pro1325Arg) c.3956C>G (p.Pro1319Arg)	gnomAD v4
22	g.50721810C>T	CA10326187	SHANK3	c.3578C>T (p.Pro1193Leu) n.4162C>T c.2630C>T (p.Pro877Leu) c.2120C>T (p.Pro707Leu) c.2576C>T (n.2576C>T) c.3974C>T (p.Pro1325Leu) c.3956C>T (p.Pro1319Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.50721811G>A	CA325579693	SHANK3	c.3579G>A (p.Pro1193=) n.4163G>A c.2631G>A (p.Pro877=) c.2121G>A (p.Pro707=) c.2577G>A (n.2577G>A) c.3975G>A (p.Pro1325=) c.3957G>A (p.Pro1319=)	dbSNP gnomAD v3 gnomAD v4
22	g.50721811G>C	CA515263569	SHANK3	c.3579G>C (p.Pro1193=) n.4163G>C c.2631G>C (p.Pro877=) c.2121G>C (p.Pro707=) c.2577G>C (n.2577G>C) c.3975G>C (p.Pro1325=) c.3957G>C (p.Pro1319=)
22	g.50721811G=	CA2411008475	SHANK3	c.3579G= (p.Pro1193=) n.4163G= c.2631G= (p.Pro877=) c.2121G= (p.Pro707=) c.2577G= (n.2577G=) c.3975G= (p.Pro1325=) c.3957G= (p.Pro1319=)
22	g.50721811G>T	CA515263570	SHANK3	c.3579G>T (p.Pro1193=) n.4163G>T c.2631G>T (p.Pro877=) c.2121G>T (p.Pro707=) c.2577G>T (n.2577G>T) c.3975G>T (p.Pro1325=) c.3957G>T (p.Pro1319=)	gnomAD v4
22	g.50721812G>A	CA515263572	SHANK3	c.3580G>A (p.Gly1194Ser) n.4164G>A c.2632G>A (p.Gly878Ser) c.2122G>A (p.Gly708Ser) c.2578G>A (n.2578G>A) c.3976G>A (p.Gly1326Ser) c.3958G>A (p.Gly1320Ser)
22	g.50721812G>C	CA515263573	SHANK3	c.3580G>C (p.Gly1194Arg) n.4164G>C c.2632G>C (p.Gly878Arg) c.2122G>C (p.Gly708Arg) c.2578G>C (n.2578G>C) c.3976G>C (p.Gly1326Arg) c.3958G>C (p.Gly1320Arg)
22	g.50721812G>T	CA515263574	SHANK3	c.3580G>T (p.Gly1194Cys) n.4164G>T c.2632G>T (p.Gly878Cys) c.2122G>T (p.Gly708Cys) c.2578G>T (n.2578G>T) c.3976G>T (p.Gly1326Cys) c.3958G>T (p.Gly1320Cys)	gnomAD v4

Number of alleles fetched