Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50720282_50720341delCA2657582783SHANK3c.2050_2109del (p.Pro684_Pro703del)
n.2634_2693del
c.1102_1161del (p.Pro368_Pro387del)
c.592_651del (p.Pro198_Pro217del)
c.*1048_*1107del (n.*1048_*1107del)
c.2446_2505del (p.Pro816_Pro835del)
c.2428_2487del (p.Pro810_Pro829del)
 gnomAD v4
22g.50720285_50720365delCA2657582781SHANK3c.2053_2133del (p.Gln685_Pro711del)
n.2637_2717del
c.1105_1185del (p.Gln369_Pro395del)
c.595_675del (p.Gln199_Pro225del)
c.*1051_*1131del (n.*1051_*1131del)
c.2449_2529del (p.Gln817_Pro843del)
c.2431_2511del (p.Gln811_Pro837del)
 gnomAD v4
22g.50720296_50720313dupCA2657582830SHANK3c.2064_2081dup (p.Pro694_Tyr695insProProProProAlaPro)
n.2648_2665dup
c.1116_1133dup (p.Pro378_Tyr379insProProProProAlaPro)
c.606_623dup (p.Pro208_Tyr209insProProProProAlaPro)
c.*1062_*1079dup (n.*1062_*1079dup)
c.2460_2477dup (p.Pro826_Tyr827insProProProProAlaPro)
c.2442_2459dup (p.Pro820_Tyr821insProProProProAlaPro)
 gnomAD v4
22g.50720296_50720313delCA2657582827SHANK3c.2064_2081del (p.Pro689_Pro694del)
n.2648_2665del
c.1116_1133del (p.Pro373_Pro378del)
c.606_623del (p.Pro203_Pro208del)
c.*1062_*1079del (n.*1062_*1079del)
c.2460_2477del (p.Pro821_Pro826del)
c.2442_2459del (p.Pro815_Pro820del)
 gnomAD v4
22g.50720299_50720355delCA2657582845SHANK3c.2067_2123del (p.Pro690_Pro708del)
n.2651_2707del
c.1119_1175del (p.Pro374_Pro392del)
c.609_665del (p.Pro204_Pro222del)
c.*1065_*1121del (n.*1065_*1121del)
c.2463_2519del (p.Pro822_Pro840del)
c.2445_2501del (p.Pro816_Pro834del)
 gnomAD v4
22g.50720300_50720308dupCA1026671805SHANK3c.2068_2076dup (p.Pro692_Ala693insProProPro)
n.2652_2660dup
c.1120_1128dup (p.Pro376_Ala377insProProPro)
c.610_618dup (p.Pro206_Ala207insProProPro)
c.*1066_*1074dup (n.*1066_*1074dup)
c.2464_2472dup (p.Pro824_Ala825insProProPro)
c.2446_2454dup (p.Pro818_Ala819insProProPro)
 dbSNP gnomAD v3 gnomAD v4
22g.50720308_50720364delCA1026671807SHANK3c.2076_2132del (p.Ala693_Pro711del)
n.2660_2716del
c.1128_1184del (p.Ala377_Pro395del)
c.618_674del (p.Ala207_Pro225del)
c.*1074_*1130del (n.*1074_*1130del)
c.2472_2528del (p.Ala825_Pro843del)
c.2454_2510del (p.Ala819_Pro837del)
 gnomAD v3 gnomAD v4
22g.50720308C>ACA515258881SHANK3c.2076C>A (p.Pro692=)
n.2660C>A
c.1128C>A (p.Pro376=)
c.618C>A (p.Pro206=)
c.*1074C>A (n.*1074C>A)
c.2472C>A (p.Pro824=)
c.2454C>A (p.Pro818=)
 gnomAD v4
22g.50720308C>GCA515258882SHANK3c.2076C>G (p.Pro692=)
n.2660C>G
c.1128C>G (p.Pro376=)
c.618C>G (p.Pro206=)
c.*1074C>G (n.*1074C>G)
c.2472C>G (p.Pro824=)
c.2454C>G (p.Pro818=)
 gnomAD v4
22g.50720308C>TCA515258883SHANK3c.2076C>T (p.Pro692=)
n.2660C>T
c.1128C>T (p.Pro376=)
c.618C>T (p.Pro206=)
c.*1074C>T (n.*1074C>T)
c.2472C>T (p.Pro824=)
c.2454C>T (p.Pro818=)
 gnomAD v4
22g.50720309G>ACA515258885SHANK3c.2077G>A (p.Ala693Thr)
n.2661G>A
c.1129G>A (p.Ala377Thr)
c.619G>A (p.Ala207Thr)
c.*1075G>A (n.*1075G>A)
c.2473G>A (p.Ala825Thr)
c.2455G>A (p.Ala819Thr)
 dbSNP gnomAD v2 gnomAD v4
22g.50720309G>CCA515258886SHANK3c.2077G>C (p.Ala693Pro)
n.2661G>C
c.1129G>C (p.Ala377Pro)
c.619G>C (p.Ala207Pro)
c.*1075G>C (n.*1075G>C)
c.2473G>C (p.Ala825Pro)
c.2455G>C (p.Ala819Pro)
 dbSNP gnomAD v4
22g.50720309G=CA2411007551SHANK3c.2077G= (p.Ala693=)
n.2661G=
c.1129G= (p.Ala377=)
c.619G= (p.Ala207=)
c.*1075G= (n.*1075G=)
c.2473G= (p.Ala825=)
c.2455G= (p.Ala819=)
22g.50720309G>TCA515258884SHANK3c.2077G>T (p.Ala693Ser)
n.2661G>T
c.1129G>T (p.Ala377Ser)
c.619G>T (p.Ala207Ser)
c.*1075G>T (n.*1075G>T)
c.2473G>T (p.Ala825Ser)
c.2455G>T (p.Ala819Ser)
22g.50720310C>ACA515258887SHANK3c.2078C>A (p.Ala693Glu)
n.2662C>A
c.1130C>A (p.Ala377Glu)
c.620C>A (p.Ala207Glu)
c.*1076C>A (n.*1076C>A)
c.2474C>A (p.Ala825Glu)
c.2456C>A (p.Ala819Glu)
 gnomAD v4
22g.50720310C>GCA515258888SHANK3c.2078C>G (p.Ala693Gly)
n.2662C>G
c.1130C>G (p.Ala377Gly)
c.620C>G (p.Ala207Gly)
c.*1076C>G (n.*1076C>G)
c.2474C>G (p.Ala825Gly)
c.2456C>G (p.Ala819Gly)
22g.50720310C>TCA515258889SHANK3c.2078C>T (p.Ala693Val)
n.2662C>T
c.1130C>T (p.Ala377Val)
c.620C>T (p.Ala207Val)
c.*1076C>T (n.*1076C>T)
c.2474C>T (p.Ala825Val)
c.2456C>T (p.Ala819Val)
 gnomAD v4
22g.50720311G>ACA325578045SHANK3c.2079G>A (p.Ala693=)
n.2663G>A
c.1131G>A (p.Ala377=)
c.621G>A (p.Ala207=)
c.*1077G>A (n.*1077G>A)
c.2475G>A (p.Ala825=)
c.2457G>A (p.Ala819=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720311G>CCA515258891SHANK3c.2079G>C (p.Ala693=)
n.2663G>C
c.1131G>C (p.Ala377=)
c.621G>C (p.Ala207=)
c.*1077G>C (n.*1077G>C)
c.2475G>C (p.Ala825=)
c.2457G>C (p.Ala819=)
 dbSNP
22g.50720311G=CA2411007552SHANK3c.2079G= (p.Ala693=)
n.2663G=
c.1131G= (p.Ala377=)
c.621G= (p.Ala207=)
c.*1077G= (n.*1077G=)
c.2475G= (p.Ala825=)
c.2457G= (p.Ala819=)
22g.50720311G>TCA515258892SHANK3c.2079G>T (p.Ala693=)
n.2663G>T
c.1131G>T (p.Ala377=)
c.621G>T (p.Ala207=)
c.*1077G>T (n.*1077G>T)
c.2475G>T (p.Ala825=)
c.2457G>T (p.Ala819=)
 gnomAD v4
22g.50720312C>ACA515258895SHANK3c.2080C>A (p.Pro694Thr)
n.2664C>A
c.1132C>A (p.Pro378Thr)
c.622C>A (p.Pro208Thr)
c.*1078C>A (n.*1078C>A)
c.2476C>A (p.Pro826Thr)
c.2458C>A (p.Pro820Thr)
 gnomAD v4
22g.50720312C>GCA515258894SHANK3c.2080C>G (p.Pro694Ala)
n.2664C>G
c.1132C>G (p.Pro378Ala)
c.622C>G (p.Pro208Ala)
c.*1078C>G (n.*1078C>G)
c.2476C>G (p.Pro826Ala)
c.2458C>G (p.Pro820Ala)
 gnomAD v3 gnomAD v4
22g.50720312C>TCA515258893SHANK3c.2080C>T (p.Pro694Ser)
n.2664C>T
c.1132C>T (p.Pro378Ser)
c.622C>T (p.Pro208Ser)
c.*1078C>T (n.*1078C>T)
c.2476C>T (p.Pro826Ser)
c.2458C>T (p.Pro820Ser)
 gnomAD v4
22g.50720314delCA2577768678SHANK3c.2082del (p.Tyr695ThrfsTer?)
n.2666del
c.1134del (p.Tyr379ThrfsTer?)
c.624del (p.Tyr209ThrfsTer?)
c.*1080del (n.*1080del)
c.2478del (p.Tyr827ThrfsTer?)
c.2460del (p.Tyr821ThrfsTer?)
22g.50720313C>ACA515258896SHANK3c.2081C>A (p.Pro694His)
n.2665C>A
c.1133C>A (p.Pro378His)
c.623C>A (p.Pro208His)
c.*1079C>A (n.*1079C>A)
c.2477C>A (p.Pro826His)
c.2459C>A (p.Pro820His)
22g.50720313C=CA2411007553SHANK3c.2081C= (p.Pro694=)
n.2665C=
c.1133C= (p.Pro378=)
c.623C= (p.Pro208=)
c.*1079C= (n.*1079C=)
c.2477C= (p.Pro826=)
c.2459C= (p.Pro820=)
22g.50720313C>GCA515258897SHANK3c.2081C>G (p.Pro694Arg)
n.2665C>G
c.1133C>G (p.Pro378Arg)
c.623C>G (p.Pro208Arg)
c.*1079C>G (n.*1079C>G)
c.2477C>G (p.Pro826Arg)
c.2459C>G (p.Pro820Arg)
22g.50720313C>TCA515258898SHANK3c.2081C>T (p.Pro694Leu)
n.2665C>T
c.1133C>T (p.Pro378Leu)
c.623C>T (p.Pro208Leu)
c.*1079C>T (n.*1079C>T)
c.2477C>T (p.Pro826Leu)
c.2459C>T (p.Pro820Leu)
 dbSNP gnomAD v4
22g.50720314C>ACA515258899SHANK3c.2082C>A (p.Pro694=)
n.2666C>A
c.1134C>A (p.Pro378=)
c.624C>A (p.Pro208=)
c.*1080C>A (n.*1080C>A)
c.2478C>A (p.Pro826=)
c.2460C>A (p.Pro820=)
 gnomAD v4
22g.50720314C>GCA515258900SHANK3c.2082C>G (p.Pro694=)
n.2666C>G
c.1134C>G (p.Pro378=)
c.624C>G (p.Pro208=)
c.*1080C>G (n.*1080C>G)
c.2478C>G (p.Pro826=)
c.2460C>G (p.Pro820=)
 dbSNP
22g.50720314C>TCA515258901SHANK3c.2082C>T (p.Pro694=)
n.2666C>T
c.1134C>T (p.Pro378=)
c.624C>T (p.Pro208=)
c.*1080C>T (n.*1080C>T)
c.2478C>T (p.Pro826=)
c.2460C>T (p.Pro820=)
 gnomAD v4
22g.50720315delCA1026671823SHANK3c.2083del (p.Tyr695ThrfsTer?)
n.2667del
c.1135del (p.Tyr379ThrfsTer?)
c.625del (p.Tyr209ThrfsTer?)
c.*1081del (n.*1081del)
c.2479del (p.Tyr827ThrfsTer?)
c.2461del (p.Tyr821ThrfsTer?)
 gnomAD v3 gnomAD v4
22g.50720315T>ACA515258902SHANK3c.2083T>A (p.Tyr695Asn)
n.2667T>A
c.1135T>A (p.Tyr379Asn)
c.625T>A (p.Tyr209Asn)
c.*1081T>A (n.*1081T>A)
c.2479T>A (p.Tyr827Asn)
c.2461T>A (p.Tyr821Asn)
 gnomAD v4
22g.50720315T>CCA515258904SHANK3c.2083T>C (p.Tyr695His)
n.2667T>C
c.1135T>C (p.Tyr379His)
c.625T>C (p.Tyr209His)
c.*1081T>C (n.*1081T>C)
c.2479T>C (p.Tyr827His)
c.2461T>C (p.Tyr821His)
 gnomAD v4
22g.50720315T>GCA515258903SHANK3c.2083T>G (p.Tyr695Asp)
n.2667T>G
c.1135T>G (p.Tyr379Asp)
c.625T>G (p.Tyr209Asp)
c.*1081T>G (n.*1081T>G)
c.2479T>G (p.Tyr827Asp)
c.2461T>G (p.Tyr821Asp)
22g.50720316A>CCA515258905SHANK3c.2084A>C (p.Tyr695Ser)
n.2668A>C
c.1136A>C (p.Tyr379Ser)
c.626A>C (p.Tyr209Ser)
c.*1082A>C (n.*1082A>C)
c.2480A>C (p.Tyr827Ser)
c.2462A>C (p.Tyr821Ser)
22g.50720316A>GCA515258906SHANK3c.2084A>G (p.Tyr695Cys)
n.2668A>G
c.1136A>G (p.Tyr379Cys)
c.626A>G (p.Tyr209Cys)
c.*1082A>G (n.*1082A>G)
c.2480A>G (p.Tyr827Cys)
c.2462A>G (p.Tyr821Cys)
 gnomAD v4
22g.50720316A>TCA515258907SHANK3c.2084A>T (p.Tyr695Phe)
n.2668A>T
c.1136A>T (p.Tyr379Phe)
c.626A>T (p.Tyr209Phe)
c.*1082A>T (n.*1082A>T)
c.2480A>T (p.Tyr827Phe)
c.2462A>T (p.Tyr821Phe)
 gnomAD v4
22g.50720317C>ACA515258908SHANK3c.2085C>A (p.Tyr695Ter)
n.2669C>A
c.1137C>A (p.Tyr379Ter)
c.627C>A (p.Tyr209Ter)
c.*1083C>A (n.*1083C>A)
c.2481C>A (p.Tyr827Ter)
c.2463C>A (p.Tyr821Ter)
 gnomAD v4
22g.50720317C>GCA515258909SHANK3c.2085C>G (p.Tyr695Ter)
n.2669C>G
c.1137C>G (p.Tyr379Ter)
c.627C>G (p.Tyr209Ter)
c.*1083C>G (n.*1083C>G)
c.2481C>G (p.Tyr827Ter)
c.2463C>G (p.Tyr821Ter)
 gnomAD v4
22g.50720317C>TCA515258911SHANK3c.2085C>T (p.Tyr695=)
n.2669C>T
c.1137C>T (p.Tyr379=)
c.627C>T (p.Tyr209=)
c.*1083C>T (n.*1083C>T)
c.2481C>T (p.Tyr827=)
c.2463C>T (p.Tyr821=)
22g.50720318T>ACA515258913SHANK3c.2086T>A (p.Tyr696Asn)
n.2670T>A
c.1138T>A (p.Tyr380Asn)
c.628T>A (p.Tyr210Asn)
c.*1084T>A (n.*1084T>A)
c.2482T>A (p.Tyr828Asn)
c.2464T>A (p.Tyr822Asn)
22g.50720318T>CCA515258914SHANK3c.2086T>C (p.Tyr696His)
n.2670T>C
c.1138T>C (p.Tyr380His)
c.628T>C (p.Tyr210His)
c.*1084T>C (n.*1084T>C)
c.2482T>C (p.Tyr828His)
c.2464T>C (p.Tyr822His)
 gnomAD v4
22g.50720318T>GCA515258915SHANK3c.2086T>G (p.Tyr696Asp)
n.2670T>G
c.1138T>G (p.Tyr380Asp)
c.628T>G (p.Tyr210Asp)
c.*1084T>G (n.*1084T>G)
c.2482T>G (p.Tyr828Asp)
c.2464T>G (p.Tyr822Asp)
 dbSNP
22g.50720318T=CA2411007554SHANK3c.2086T= (p.Tyr696=)
n.2670T=
c.1138T= (p.Tyr380=)
c.628T= (p.Tyr210=)
c.*1084T= (n.*1084T=)
c.2482T= (p.Tyr828=)
c.2464T= (p.Tyr822=)
22g.50720319A=CA2411007555SHANK3c.2087A= (p.Tyr696=)
n.2671A=
c.1139A= (p.Tyr380=)
c.629A= (p.Tyr210=)
c.*1085A= (n.*1085A=)
c.2483A= (p.Tyr828=)
c.2465A= (p.Tyr822=)
22g.50720319A>CCA515258917SHANK3c.2087A>C (p.Tyr696Ser)
n.2671A>C
c.1139A>C (p.Tyr380Ser)
c.629A>C (p.Tyr210Ser)
c.*1085A>C (n.*1085A>C)
c.2483A>C (p.Tyr828Ser)
c.2465A>C (p.Tyr822Ser)
 dbSNP gnomAD v2 gnomAD v4
22g.50720319A>GCA515258918SHANK3c.2087A>G (p.Tyr696Cys)
n.2671A>G
c.1139A>G (p.Tyr380Cys)
c.629A>G (p.Tyr210Cys)
c.*1085A>G (n.*1085A>G)
c.2483A>G (p.Tyr828Cys)
c.2465A>G (p.Tyr822Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720319A>TCA515258919SHANK3c.2087A>T (p.Tyr696Phe)
n.2671A>T
c.1139A>T (p.Tyr380Phe)
c.629A>T (p.Tyr210Phe)
c.*1085A>T (n.*1085A>T)
c.2483A>T (p.Tyr828Phe)
c.2465A>T (p.Tyr822Phe)
 gnomAD v4
22g.50720320C>ACA515258920SHANK3c.2088C>A (p.Tyr696Ter)
n.2672C>A
c.1140C>A (p.Tyr380Ter)
c.630C>A (p.Tyr210Ter)
c.*1086C>A (n.*1086C>A)
c.2484C>A (p.Tyr828Ter)
c.2466C>A (p.Tyr822Ter)
 gnomAD v4
22g.50720320C=CA2411007556SHANK3c.2088C= (p.Tyr696=)
n.2672C=
c.1140C= (p.Tyr380=)
c.630C= (p.Tyr210=)
c.*1086C= (n.*1086C=)
c.2484C= (p.Tyr828=)
c.2466C= (p.Tyr822=)
22g.50720320C>GCA515258921SHANK3c.2088C>G (p.Tyr696Ter)
n.2672C>G
c.1140C>G (p.Tyr380Ter)
c.630C>G (p.Tyr210Ter)
c.*1086C>G (n.*1086C>G)
c.2484C>G (p.Tyr828Ter)
c.2466C>G (p.Tyr822Ter)
22g.50720320C>TCA325578052SHANK3c.2088C>T (p.Tyr696=)
n.2672C>T
c.1140C>T (p.Tyr380=)
c.630C>T (p.Tyr210=)
c.*1086C>T (n.*1086C>T)
c.2484C>T (p.Tyr828=)
c.2466C>T (p.Tyr822=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720321_50720323delCA2657582925SHANK3c.2089_2091del (p.Phe697del)
n.2673_2675del
c.1141_1143del (p.Phe381del)
c.631_633del (p.Phe211del)
c.*1087_*1089del (n.*1087_*1089del)
c.2485_2487del (p.Phe829del)
c.2467_2469del (p.Phe823del)
 gnomAD v4
22g.50720321T>ACA515258922SHANK3c.2089T>A (p.Phe697Ile)
n.2673T>A
c.1141T>A (p.Phe381Ile)
c.631T>A (p.Phe211Ile)
c.*1087T>A (n.*1087T>A)
c.2485T>A (p.Phe829Ile)
c.2467T>A (p.Phe823Ile)
 gnomAD v4
22g.50720321T>CCA515258923SHANK3c.2089T>C (p.Phe697Leu)
n.2673T>C
c.1141T>C (p.Phe381Leu)
c.631T>C (p.Phe211Leu)
c.*1087T>C (n.*1087T>C)
c.2485T>C (p.Phe829Leu)
c.2467T>C (p.Phe823Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.50720321T>GCA515258924SHANK3c.2089T>G (p.Phe697Val)
n.2673T>G
c.1141T>G (p.Phe381Val)
c.631T>G (p.Phe211Val)
c.*1087T>G (n.*1087T>G)
c.2485T>G (p.Phe829Val)
c.2467T>G (p.Phe823Val)
 gnomAD v4
22g.50720321T=CA2411007557SHANK3c.2089T= (p.Phe697=)
n.2673T=
c.1141T= (p.Phe381=)
c.631T= (p.Phe211=)
c.*1087T= (n.*1087T=)
c.2485T= (p.Phe829=)
c.2467T= (p.Phe823=)
22g.50720322T>ACA515258925SHANK3c.2090T>A (p.Phe697Tyr)
n.2674T>A
c.1142T>A (p.Phe381Tyr)
c.632T>A (p.Phe211Tyr)
c.*1088T>A (n.*1088T>A)
c.2486T>A (p.Phe829Tyr)
c.2468T>A (p.Phe823Tyr)
 dbSNP gnomAD v3 gnomAD v4
22g.50720322T>CCA515258926SHANK3c.2090T>C (p.Phe697Ser)
n.2674T>C
c.1142T>C (p.Phe381Ser)
c.632T>C (p.Phe211Ser)
c.*1088T>C (n.*1088T>C)
c.2486T>C (p.Phe829Ser)
c.2468T>C (p.Phe823Ser)
22g.50720322T>GCA515258927SHANK3c.2090T>G (p.Phe697Cys)
n.2674T>G
c.1142T>G (p.Phe381Cys)
c.632T>G (p.Phe211Cys)
c.*1088T>G (n.*1088T>G)
c.2486T>G (p.Phe829Cys)
c.2468T>G (p.Phe823Cys)
22g.50720322T=CA2411007558SHANK3c.2090T= (p.Phe697=)
n.2674T=
c.1142T= (p.Phe381=)
c.632T= (p.Phe211=)
c.*1088T= (n.*1088T=)
c.2486T= (p.Phe829=)
c.2468T= (p.Phe823=)
22g.50720323C>ACA515258928SHANK3c.2091C>A (p.Phe697Leu)
n.2675C>A
c.1143C>A (p.Phe381Leu)
c.633C>A (p.Phe211Leu)
c.*1089C>A (n.*1089C>A)
c.2487C>A (p.Phe829Leu)
c.2469C>A (p.Phe823Leu)
 gnomAD v4
22g.50720323C=CA2411007559SHANK3c.2091C= (p.Phe697=)
n.2675C=
c.1143C= (p.Phe381=)
c.633C= (p.Phe211=)
c.*1089C= (n.*1089C=)
c.2487C= (p.Phe829=)
c.2469C= (p.Phe823=)
22g.50720323C>GCA515258929SHANK3c.2091C>G (p.Phe697Leu)
n.2675C>G
c.1143C>G (p.Phe381Leu)
c.633C>G (p.Phe211Leu)
c.*1089C>G (n.*1089C>G)
c.2487C>G (p.Phe829Leu)
c.2469C>G (p.Phe823Leu)
 gnomAD v4
22g.50720323C>TCA515258930SHANK3c.2091C>T (p.Phe697=)
n.2675C>T
c.1143C>T (p.Phe381=)
c.633C>T (p.Phe211=)
c.*1089C>T (n.*1089C>T)
c.2487C>T (p.Phe829=)
c.2469C>T (p.Phe823=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720324_50720326dupCA2657582933SHANK3c.2092_2094dup (p.Asp698_Ser699insAsp)
n.2676_2678dup
c.1144_1146dup (p.Asp382_Ser383insAsp)
c.634_636dup (p.Asp212_Ser213insAsp)
c.*1090_*1092dup (n.*1090_*1092dup)
c.2488_2490dup (p.Asp830_Ser831insAsp)
c.2470_2472dup (p.Asp824_Ser825insAsp)
 gnomAD v4
22g.50720324G>ACA515258931SHANK3c.2092G>A (p.Asp698Asn)
n.2676G>A
c.1144G>A (p.Asp382Asn)
c.634G>A (p.Asp212Asn)
c.*1090G>A (n.*1090G>A)
c.2488G>A (p.Asp830Asn)
c.2470G>A (p.Asp824Asn)
 gnomAD v4
22g.50720324G>CCA515258932SHANK3c.2092G>C (p.Asp698His)
n.2676G>C
c.1144G>C (p.Asp382His)
c.634G>C (p.Asp212His)
c.*1090G>C (n.*1090G>C)
c.2488G>C (p.Asp830His)
c.2470G>C (p.Asp824His)
22g.50720324G>TCA515258934SHANK3c.2092G>T (p.Asp698Tyr)
n.2676G>T
c.1144G>T (p.Asp382Tyr)
c.634G>T (p.Asp212Tyr)
c.*1090G>T (n.*1090G>T)
c.2488G>T (p.Asp830Tyr)
c.2470G>T (p.Asp824Tyr)
 gnomAD v4
22g.50720325A=CA2411007560SHANK3c.2093A= (p.Asp698=)
n.2677A=
c.1145A= (p.Asp382=)
c.635A= (p.Asp212=)
c.*1091A= (n.*1091A=)
c.2489A= (p.Asp830=)
c.2471A= (p.Asp824=)
22g.50720325A>CCA515258937SHANK3c.2093A>C (p.Asp698Ala)
n.2677A>C
c.1145A>C (p.Asp382Ala)
c.635A>C (p.Asp212Ala)
c.*1091A>C (n.*1091A>C)
c.2489A>C (p.Asp830Ala)
c.2471A>C (p.Asp824Ala)
22g.50720325A>GCA515258936SHANK3c.2093A>G (p.Asp698Gly)
n.2677A>G
c.1145A>G (p.Asp382Gly)
c.635A>G (p.Asp212Gly)
c.*1091A>G (n.*1091A>G)
c.2489A>G (p.Asp830Gly)
c.2471A>G (p.Asp824Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50720325A>TCA515258935SHANK3c.2093A>T (p.Asp698Val)
n.2677A>T
c.1145A>T (p.Asp382Val)
c.635A>T (p.Asp212Val)
c.*1091A>T (n.*1091A>T)
c.2489A>T (p.Asp830Val)
c.2471A>T (p.Asp824Val)
22g.50720326C>ACA515258938SHANK3c.2094C>A (p.Asp698Glu)
n.2678C>A
c.1146C>A (p.Asp382Glu)
c.636C>A (p.Asp212Glu)
c.*1092C>A (n.*1092C>A)
c.2490C>A (p.Asp830Glu)
c.2472C>A (p.Asp824Glu)
 gnomAD v4
22g.50720326C=CA2411007561SHANK3c.2094C= (p.Asp698=)
n.2678C=
c.1146C= (p.Asp382=)
c.636C= (p.Asp212=)
c.*1092C= (n.*1092C=)
c.2490C= (p.Asp830=)
c.2472C= (p.Asp824=)
22g.50720326C>GCA515258939SHANK3c.2094C>G (p.Asp698Glu)
n.2678C>G
c.1146C>G (p.Asp382Glu)
c.636C>G (p.Asp212Glu)
c.*1092C>G (n.*1092C>G)
c.2490C>G (p.Asp830Glu)
c.2472C>G (p.Asp824Glu)
22g.50720326C>TCA515258940SHANK3c.2094C>T (p.Asp698=)
n.2678C>T
c.1146C>T (p.Asp382=)
c.636C>T (p.Asp212=)
c.*1092C>T (n.*1092C>T)
c.2490C>T (p.Asp830=)
c.2472C>T (p.Asp824=)
 dbSNP gnomAD v4
22g.50720327T>ACA515258941SHANK3c.2095T>A (p.Ser699Thr)
n.2679T>A
c.1147T>A (p.Ser383Thr)
c.637T>A (p.Ser213Thr)
c.*1093T>A (n.*1093T>A)
c.2491T>A (p.Ser831Thr)
c.2473T>A (p.Ser825Thr)
22g.50720327T>CCA515258942SHANK3c.2095T>C (p.Ser699Pro)
n.2679T>C
c.1147T>C (p.Ser383Pro)
c.637T>C (p.Ser213Pro)
c.*1093T>C (n.*1093T>C)
c.2491T>C (p.Ser831Pro)
c.2473T>C (p.Ser825Pro)
 gnomAD v4
22g.50720327T>GCA515258943SHANK3c.2095T>G (p.Ser699Ala)
n.2679T>G
c.1147T>G (p.Ser383Ala)
c.637T>G (p.Ser213Ala)
c.*1093T>G (n.*1093T>G)
c.2491T>G (p.Ser831Ala)
c.2473T>G (p.Ser825Ala)
22g.50720328C>ACA515258944SHANK3c.2096C>A (p.Ser699Ter)
n.2680C>A
c.1148C>A (p.Ser383Ter)
c.638C>A (p.Ser213Ter)
c.*1094C>A (n.*1094C>A)
c.2492C>A (p.Ser831Ter)
c.2474C>A (p.Ser825Ter)
 gnomAD v4
22g.50720328C=CA2411007562SHANK3c.2096C= (p.Ser699=)
n.2680C=
c.1148C= (p.Ser383=)
c.638C= (p.Ser213=)
c.*1094C= (n.*1094C=)
c.2492C= (p.Ser831=)
c.2474C= (p.Ser825=)
22g.50720328C>GCA515258945SHANK3c.2096C>G (p.Ser699Trp)
n.2680C>G
c.1148C>G (p.Ser383Trp)
c.638C>G (p.Ser213Trp)
c.*1094C>G (n.*1094C>G)
c.2492C>G (p.Ser831Trp)
c.2474C>G (p.Ser825Trp)
22g.50720328C>TCA515258946SHANK3c.2096C>T (p.Ser699Leu)
n.2680C>T
c.1148C>T (p.Ser383Leu)
c.638C>T (p.Ser213Leu)
c.*1094C>T (n.*1094C>T)
c.2492C>T (p.Ser831Leu)
c.2474C>T (p.Ser825Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720329G>ACA515258947SHANK3c.2097G>A (p.Ser699=)
n.2681G>A
c.1149G>A (p.Ser383=)
c.639G>A (p.Ser213=)
c.*1095G>A (n.*1095G>A)
c.2493G>A (p.Ser831=)
c.2475G>A (p.Ser825=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720329G>CCA515258948SHANK3c.2097G>C (p.Ser699=)
n.2681G>C
c.1149G>C (p.Ser383=)
c.639G>C (p.Ser213=)
c.*1095G>C (n.*1095G>C)
c.2493G>C (p.Ser831=)
c.2475G>C (p.Ser825=)
 gnomAD v4
22g.50720329G=CA2411007563SHANK3c.2097G= (p.Ser699=)
n.2681G=
c.1149G= (p.Ser383=)
c.639G= (p.Ser213=)
c.*1095G= (n.*1095G=)
c.2493G= (p.Ser831=)
c.2475G= (p.Ser825=)
22g.50720329G>TCA515258949SHANK3c.2097G>T (p.Ser699=)
n.2681G>T
c.1149G>T (p.Ser383=)
c.639G>T (p.Ser213=)
c.*1095G>T (n.*1095G>T)
c.2493G>T (p.Ser831=)
c.2475G>T (p.Ser825=)
 gnomAD v4
22g.50720332delCA891842407SHANK3c.2100del (p.Pro701ArgfsTer?)
n.2684del
c.1152del (p.Pro385ArgfsTer?)
c.642del (p.Pro215ArgfsTer?)
c.*1098del (n.*1098del)
c.2496del (p.Pro833ArgfsTer?)
c.2478del (p.Pro827ArgfsTer?)
 gnomAD v4
22g.50720330G>ACA515258953SHANK3c.2098G>A (p.Gly700Arg)
n.2682G>A
c.1150G>A (p.Gly384Arg)
c.640G>A (p.Gly214Arg)
c.*1096G>A (n.*1096G>A)
c.2494G>A (p.Gly832Arg)
c.2476G>A (p.Gly826Arg)
 gnomAD v4
22g.50720330G>CCA515258951SHANK3c.2098G>C (p.Gly700Arg)
n.2682G>C
c.1150G>C (p.Gly384Arg)
c.640G>C (p.Gly214Arg)
c.*1096G>C (n.*1096G>C)
c.2494G>C (p.Gly832Arg)
c.2476G>C (p.Gly826Arg)
22g.50720330G>TCA515258952SHANK3c.2098G>T (p.Gly700Trp)
n.2682G>T
c.1150G>T (p.Gly384Trp)
c.640G>T (p.Gly214Trp)
c.*1096G>T (n.*1096G>T)
c.2494G>T (p.Gly832Trp)
c.2476G>T (p.Gly826Trp)
 gnomAD v4
22g.50720331G>ACA515258954SHANK3c.2099G>A (p.Gly700Glu)
n.2683G>A
c.1151G>A (p.Gly384Glu)
c.641G>A (p.Gly214Glu)
c.*1097G>A (n.*1097G>A)
c.2495G>A (p.Gly832Glu)
c.2477G>A (p.Gly826Glu)
 gnomAD v4
22g.50720331G>CCA515258956SHANK3c.2099G>C (p.Gly700Ala)
n.2683G>C
c.1151G>C (p.Gly384Ala)
c.641G>C (p.Gly214Ala)
c.*1097G>C (n.*1097G>C)
c.2495G>C (p.Gly832Ala)
c.2477G>C (p.Gly826Ala)
22g.50720331G>TCA515258955SHANK3c.2099G>T (p.Gly700Val)
n.2683G>T
c.1151G>T (p.Gly384Val)
c.641G>T (p.Gly214Val)
c.*1097G>T (n.*1097G>T)
c.2495G>T (p.Gly832Val)
c.2477G>T (p.Gly826Val)
 gnomAD v4
22g.50720331_50720352delinsGGCCGCCCCCGGCCTTCTCGCCCA2411007564SHANK3c.2099_2120delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly700=)
n.2683_2704delinsGGCCGCCCCCGGCCTTCTCGCC
c.1151_1172delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly384=)
c.641_662delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly214=)
c.*1097_*1118delinsGGCCGCCCCCGGCCTTCTCGCC (n.*1097_*1118delinsGGCCGCCCCCGGCCTTCTCGCC)
c.2495_2516delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly832=)
c.2477_2498delinsGGCCGCCCCCGGCCTTCTCGCC (p.Gly826=)
22g.50720332G>ACA515258957SHANK3c.2100G>A (p.Gly700=)
n.2684G>A
c.1152G>A (p.Gly384=)
c.642G>A (p.Gly214=)
c.*1098G>A (n.*1098G>A)
c.2496G>A (p.Gly832=)
c.2478G>A (p.Gly826=)
 gnomAD v4
22g.50720332G>CCA515258959SHANK3c.2100G>C (p.Gly700=)
n.2684G>C
c.1152G>C (p.Gly384=)
c.642G>C (p.Gly214=)
c.*1098G>C (n.*1098G>C)
c.2496G>C (p.Gly832=)
c.2478G>C (p.Gly826=)
22g.50720332G=CA2411007566SHANK3c.2100G= (p.Gly700=)
n.2684G=
c.1152G= (p.Gly384=)
c.642G= (p.Gly214=)
c.*1098G= (n.*1098G=)
c.2496G= (p.Gly832=)
c.2478G= (p.Gly826=)
22g.50720332G>TCA515258958SHANK3c.2100G>T (p.Gly700=)
n.2684G>T
c.1152G>T (p.Gly384=)
c.642G>T (p.Gly214=)
c.*1098G>T (n.*1098G>T)
c.2496G>T (p.Gly832=)
c.2478G>T (p.Gly826=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720342_50720362dupCA754092439SHANK3c.2110_2130dup (p.Pro710_Pro711insAlaPheSerProProProPro)
n.2694_2714dup
c.1162_1182dup (p.Pro394_Pro395insAlaPheSerProProProPro)
c.652_672dup (p.Pro224_Pro225insAlaPheSerProProProPro)
c.*1108_*1128dup (n.*1108_*1128dup)
c.2506_2526dup (p.Pro842_Pro843insAlaPheSerProProProPro)
c.2488_2508dup (p.Pro836_Pro837insAlaPheSerProProProPro)
 dbSNP gnomAD v4
22g.50720342_50720362delCA2411007565SHANK3c.2110_2130del (p.Ala704_Pro710del)
n.2694_2714del
c.1162_1182del (p.Ala388_Pro394del)
c.652_672del (p.Ala218_Pro224del)
c.*1108_*1128del (n.*1108_*1128del)
c.2506_2526del (p.Ala836_Pro842del)
c.2488_2508del (p.Ala830_Pro836del)
 dbSNP gnomAD v4
22g.50720333C>ACA515258960SHANK3c.2101C>A (p.Pro701Thr)
n.2685C>A
c.1153C>A (p.Pro385Thr)
c.643C>A (p.Pro215Thr)
c.*1099C>A (n.*1099C>A)
c.2497C>A (p.Pro833Thr)
c.2479C>A (p.Pro827Thr)
 gnomAD v4
22g.50720333C>GCA515258961SHANK3c.2101C>G (p.Pro701Ala)
n.2685C>G
c.1153C>G (p.Pro385Ala)
c.643C>G (p.Pro215Ala)
c.*1099C>G (n.*1099C>G)
c.2497C>G (p.Pro833Ala)
c.2479C>G (p.Pro827Ala)
 gnomAD v4
22g.50720333C>TCA515258962SHANK3c.2101C>T (p.Pro701Ser)
n.2685C>T
c.1153C>T (p.Pro385Ser)
c.643C>T (p.Pro215Ser)
c.*1099C>T (n.*1099C>T)
c.2497C>T (p.Pro833Ser)
c.2479C>T (p.Pro827Ser)
 gnomAD v4
22g.50720334C>ACA515258963SHANK3c.2102C>A (p.Pro701Gln)
n.2686C>A
c.1154C>A (p.Pro385Gln)
c.644C>A (p.Pro215Gln)
c.*1100C>A (n.*1100C>A)
c.2498C>A (p.Pro833Gln)
c.2480C>A (p.Pro827Gln)
 gnomAD v4
22g.50720334C>GCA515258964SHANK3c.2102C>G (p.Pro701Arg)
n.2686C>G
c.1154C>G (p.Pro385Arg)
c.644C>G (p.Pro215Arg)
c.*1100C>G (n.*1100C>G)
c.2498C>G (p.Pro833Arg)
c.2480C>G (p.Pro827Arg)
22g.50720334C>TCA515258965SHANK3c.2102C>T (p.Pro701Leu)
n.2686C>T
c.1154C>T (p.Pro385Leu)
c.644C>T (p.Pro215Leu)
c.*1100C>T (n.*1100C>T)
c.2498C>T (p.Pro833Leu)
c.2480C>T (p.Pro827Leu)
 gnomAD v4
22g.50720335delCA891842406SHANK3c.2103del (p.Pro703ArgfsTer?)
n.2687del
c.1155del (p.Pro387ArgfsTer?)
c.645del (p.Pro217ArgfsTer?)
c.*1101del (n.*1101del)
c.2499del (p.Pro835ArgfsTer?)
c.2481del (p.Pro829ArgfsTer?)
 gnomAD v4
22g.50720335G>ACA515258966SHANK3c.2103G>A (p.Pro701=)
n.2687G>A
c.1155G>A (p.Pro385=)
c.645G>A (p.Pro215=)
c.*1101G>A (n.*1101G>A)
c.2499G>A (p.Pro833=)
c.2481G>A (p.Pro827=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720335G>CCA515258967SHANK3c.2103G>C (p.Pro701=)
n.2687G>C
c.1155G>C (p.Pro385=)
c.645G>C (p.Pro215=)
c.*1101G>C (n.*1101G>C)
c.2499G>C (p.Pro833=)
c.2481G>C (p.Pro827=)
 gnomAD v4
22g.50720335G=CA2411007567SHANK3c.2103G= (p.Pro701=)
n.2687G=
c.1155G= (p.Pro385=)
c.645G= (p.Pro215=)
c.*1101G= (n.*1101G=)
c.2499G= (p.Pro833=)
c.2481G= (p.Pro827=)
22g.50720335G>TCA515258968SHANK3c.2103G>T (p.Pro701=)
n.2687G>T
c.1155G>T (p.Pro385=)
c.645G>T (p.Pro215=)
c.*1101G>T (n.*1101G>T)
c.2499G>T (p.Pro833=)
c.2481G>T (p.Pro827=)
 dbSNP gnomAD v4
22g.50720336C>ACA515258969SHANK3c.2104C>A (p.Pro702Thr)
n.2688C>A
c.1156C>A (p.Pro386Thr)
c.646C>A (p.Pro216Thr)
c.*1102C>A (n.*1102C>A)
c.2500C>A (p.Pro834Thr)
c.2482C>A (p.Pro828Thr)
 gnomAD v4
22g.50720336C=CA2411007568SHANK3c.2104C= (p.Pro702=)
n.2688C=
c.1156C= (p.Pro386=)
c.646C= (p.Pro216=)
c.*1102C= (n.*1102C=)
c.2500C= (p.Pro834=)
c.2482C= (p.Pro828=)
22g.50720336C>GCA515258970SHANK3c.2104C>G (p.Pro702Ala)
n.2688C>G
c.1156C>G (p.Pro386Ala)
c.646C>G (p.Pro216Ala)
c.*1102C>G (n.*1102C>G)
c.2500C>G (p.Pro834Ala)
c.2482C>G (p.Pro828Ala)
22g.50720336C>TCA515258971SHANK3c.2104C>T (p.Pro702Ser)
n.2688C>T
c.1156C>T (p.Pro386Ser)
c.646C>T (p.Pro216Ser)
c.*1102C>T (n.*1102C>T)
c.2500C>T (p.Pro834Ser)
c.2482C>T (p.Pro828Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50720340dupCA2657582967SHANK3c.2108dup (p.Ala704GlyfsTer?)
n.2692dup
c.1160dup (p.Ala388GlyfsTer?)
c.650dup (p.Ala218GlyfsTer?)
c.*1106dup (n.*1106dup)
c.2504dup (p.Ala836GlyfsTer?)
c.2486dup (p.Ala830GlyfsTer?)
 gnomAD v4
22g.50720340delCA640358962SHANK3c.2108del (p.Pro703ArgfsTer?)
n.2692del
c.1160del (p.Pro387ArgfsTer?)
c.650del (p.Pro217ArgfsTer?)
c.*1106del (n.*1106del)
c.2504del (p.Pro835ArgfsTer?)
c.2486del (p.Pro829ArgfsTer?)
 gnomAD v2 gnomAD v4
22g.50720337C>ACA515258972SHANK3c.2105C>A (p.Pro702His)
n.2689C>A
c.1157C>A (p.Pro386His)
c.647C>A (p.Pro216His)
c.*1103C>A (n.*1103C>A)
c.2501C>A (p.Pro834His)
c.2483C>A (p.Pro828His)
 gnomAD v4
22g.50720337C>GCA515258974SHANK3c.2105C>G (p.Pro702Arg)
n.2689C>G
c.1157C>G (p.Pro386Arg)
c.647C>G (p.Pro216Arg)
c.*1103C>G (n.*1103C>G)
c.2501C>G (p.Pro834Arg)
c.2483C>G (p.Pro828Arg)
 gnomAD v4
22g.50720337C>TCA515258973SHANK3c.2105C>T (p.Pro702Leu)
n.2689C>T
c.1157C>T (p.Pro386Leu)
c.647C>T (p.Pro216Leu)
c.*1103C>T (n.*1103C>T)
c.2501C>T (p.Pro834Leu)
c.2483C>T (p.Pro828Leu)
 gnomAD v4
22g.50720338C>ACA515258975SHANK3c.2106C>A (p.Pro702=)
n.2690C>A
c.1158C>A (p.Pro386=)
c.648C>A (p.Pro216=)
c.*1104C>A (n.*1104C>A)
c.2502C>A (p.Pro834=)
c.2484C>A (p.Pro828=)
 gnomAD v4
22g.50720338C>GCA515258976SHANK3c.2106C>G (p.Pro702=)
n.2690C>G
c.1158C>G (p.Pro386=)
c.648C>G (p.Pro216=)
c.*1104C>G (n.*1104C>G)
c.2502C>G (p.Pro834=)
c.2484C>G (p.Pro828=)
22g.50720338C>TCA515258977SHANK3c.2106C>T (p.Pro702=)
n.2690C>T
c.1158C>T (p.Pro386=)
c.648C>T (p.Pro216=)
c.*1104C>T (n.*1104C>T)
c.2502C>T (p.Pro834=)
c.2484C>T (p.Pro828=)
 gnomAD v4
22g.50720339C>ACA515258978SHANK3c.2107C>A (p.Pro703Thr)
n.2691C>A
c.1159C>A (p.Pro387Thr)
c.649C>A (p.Pro217Thr)
c.*1105C>A (n.*1105C>A)
c.2503C>A (p.Pro835Thr)
c.2485C>A (p.Pro829Thr)
 gnomAD v4
22g.50720339C>GCA515258979SHANK3c.2107C>G (p.Pro703Ala)
n.2691C>G
c.1159C>G (p.Pro387Ala)
c.649C>G (p.Pro217Ala)
c.*1105C>G (n.*1105C>G)
c.2503C>G (p.Pro835Ala)
c.2485C>G (p.Pro829Ala)
22g.50720339C>TCA515258980SHANK3c.2107C>T (p.Pro703Ser)
n.2691C>T
c.1159C>T (p.Pro387Ser)
c.649C>T (p.Pro217Ser)
c.*1105C>T (n.*1105C>T)
c.2503C>T (p.Pro835Ser)
c.2485C>T (p.Pro829Ser)
 gnomAD v4
22g.50720340C>ACA515258981SHANK3c.2108C>A (p.Pro703Gln)
n.2692C>A
c.1160C>A (p.Pro387Gln)
c.650C>A (p.Pro217Gln)
c.*1106C>A (n.*1106C>A)
c.2504C>A (p.Pro835Gln)
c.2486C>A (p.Pro829Gln)
 gnomAD v4
22g.50720340C=CA2411007569SHANK3c.2108C= (p.Pro703=)
n.2692C=
c.1160C= (p.Pro387=)
c.650C= (p.Pro217=)
c.*1106C= (n.*1106C=)
c.2504C= (p.Pro835=)
c.2486C= (p.Pro829=)
22g.50720340C>GCA515258982SHANK3c.2108C>G (p.Pro703Arg)
n.2692C>G
c.1160C>G (p.Pro387Arg)
c.650C>G (p.Pro217Arg)
c.*1106C>G (n.*1106C>G)
c.2504C>G (p.Pro835Arg)
c.2486C>G (p.Pro829Arg)
 dbSNP gnomAD v2 gnomAD v4
22g.50720340C>TCA515258983SHANK3c.2108C>T (p.Pro703Leu)
n.2692C>T
c.1160C>T (p.Pro387Leu)
c.650C>T (p.Pro217Leu)
c.*1106C>T (n.*1106C>T)
c.2504C>T (p.Pro835Leu)
c.2486C>T (p.Pro829Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720341G>ACA515258986SHANK3c.2109G>A (p.Pro703=)
n.2693G>A
c.1161G>A (p.Pro387=)
c.651G>A (p.Pro217=)
c.*1107G>A (n.*1107G>A)
c.2505G>A (p.Pro835=)
c.2487G>A (p.Pro829=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720341G>CCA515258985SHANK3c.2109G>C (p.Pro703=)
n.2693G>C
c.1161G>C (p.Pro387=)
c.651G>C (p.Pro217=)
c.*1107G>C (n.*1107G>C)
c.2505G>C (p.Pro835=)
c.2487G>C (p.Pro829=)
 gnomAD v4
22g.50720341G=CA2411007570SHANK3c.2109G= (p.Pro703=)
n.2693G=
c.1161G= (p.Pro387=)
c.651G= (p.Pro217=)
c.*1107G= (n.*1107G=)
c.2505G= (p.Pro835=)
c.2487G= (p.Pro829=)
22g.50720341G>TCA515258984SHANK3c.2109G>T (p.Pro703=)
n.2693G>T
c.1161G>T (p.Pro387=)
c.651G>T (p.Pro217=)
c.*1107G>T (n.*1107G>T)
c.2505G>T (p.Pro835=)
c.2487G>T (p.Pro829=)
 gnomAD v4
22g.50720342G>ACA515258987SHANK3c.2110G>A (p.Ala704Thr)
n.2694G>A
c.1162G>A (p.Ala388Thr)
c.652G>A (p.Ala218Thr)
c.*1108G>A (n.*1108G>A)
c.2506G>A (p.Ala836Thr)
c.2488G>A (p.Ala830Thr)
 dbSNP gnomAD v2 gnomAD v4
22g.50720342G>CCA515258988SHANK3c.2110G>C (p.Ala704Pro)
n.2694G>C
c.1162G>C (p.Ala388Pro)
c.652G>C (p.Ala218Pro)
c.*1108G>C (n.*1108G>C)
c.2506G>C (p.Ala836Pro)
c.2488G>C (p.Ala830Pro)
 ClinVar dbSNP gnomAD v4
22g.50720342G=CA2411007571SHANK3c.2110G= (p.Ala704=)
n.2694G=
c.1162G= (p.Ala388=)
c.652G= (p.Ala218=)
c.*1108G= (n.*1108G=)
c.2506G= (p.Ala836=)
c.2488G= (p.Ala830=)
22g.50720342G>TCA515258989SHANK3c.2110G>T (p.Ala704Ser)
n.2694G>T
c.1162G>T (p.Ala388Ser)
c.652G>T (p.Ala218Ser)
c.*1108G>T (n.*1108G>T)
c.2506G>T (p.Ala836Ser)
c.2488G>T (p.Ala830Ser)
 gnomAD v4
22g.50720343C>ACA515258990SHANK3c.2111C>A (p.Ala704Asp)
n.2695C>A
c.1163C>A (p.Ala388Asp)
c.653C>A (p.Ala218Asp)
c.*1109C>A (n.*1109C>A)
c.2507C>A (p.Ala836Asp)
c.2489C>A (p.Ala830Asp)
 gnomAD v4
22g.50720343C>GCA515258991SHANK3c.2111C>G (p.Ala704Gly)
n.2695C>G
c.1163C>G (p.Ala388Gly)
c.653C>G (p.Ala218Gly)
c.*1109C>G (n.*1109C>G)
c.2507C>G (p.Ala836Gly)
c.2489C>G (p.Ala830Gly)
22g.50720343C>TCA515258992SHANK3c.2111C>T (p.Ala704Val)
n.2695C>T
c.1163C>T (p.Ala388Val)
c.653C>T (p.Ala218Val)
c.*1109C>T (n.*1109C>T)
c.2507C>T (p.Ala836Val)
c.2489C>T (p.Ala830Val)
 gnomAD v4
22g.50720344_50720364delCA2657582994SHANK3c.2112_2132del (p.Phe705_Pro711del)
n.2696_2716del
c.1164_1184del (p.Phe389_Pro395del)
c.654_674del (p.Phe219_Pro225del)
c.*1110_*1130del (n.*1110_*1130del)
c.2508_2528del (p.Phe837_Pro843del)
c.2490_2510del (p.Phe831_Pro837del)
 gnomAD v4
22g.50720344C>ACA515258993SHANK3c.2112C>A (p.Ala704=)
n.2696C>A
c.1164C>A (p.Ala388=)
c.654C>A (p.Ala218=)
c.*1110C>A (n.*1110C>A)
c.2508C>A (p.Ala836=)
c.2490C>A (p.Ala830=)
 gnomAD v4
22g.50720344C>GCA515258994SHANK3c.2112C>G (p.Ala704=)
n.2696C>G
c.1164C>G (p.Ala388=)
c.654C>G (p.Ala218=)
c.*1110C>G (n.*1110C>G)
c.2508C>G (p.Ala836=)
c.2490C>G (p.Ala830=)
22g.50720344C>TCA515258995SHANK3c.2112C>T (p.Ala704=)
n.2696C>T
c.1164C>T (p.Ala388=)
c.654C>T (p.Ala218=)
c.*1110C>T (n.*1110C>T)
c.2508C>T (p.Ala836=)
c.2490C>T (p.Ala830=)
 gnomAD v4
22g.50720345T>ACA515258996SHANK3c.2113T>A (p.Phe705Ile)
n.2697T>A
c.1165T>A (p.Phe389Ile)
c.655T>A (p.Phe219Ile)
c.*1111T>A (n.*1111T>A)
c.2509T>A (p.Phe837Ile)
c.2491T>A (p.Phe831Ile)
 gnomAD v4
22g.50720345T>CCA515258997SHANK3c.2113T>C (p.Phe705Leu)
n.2697T>C
c.1165T>C (p.Phe389Leu)
c.655T>C (p.Phe219Leu)
c.*1111T>C (n.*1111T>C)
c.2509T>C (p.Phe837Leu)
c.2491T>C (p.Phe831Leu)
 gnomAD v4
22g.50720345T>GCA515258998SHANK3c.2113T>G (p.Phe705Val)
n.2697T>G
c.1165T>G (p.Phe389Val)
c.655T>G (p.Phe219Val)
c.*1111T>G (n.*1111T>G)
c.2509T>G (p.Phe837Val)
c.2491T>G (p.Phe831Val)
22g.50720346delCA2657583000SHANK3c.2114del (p.Phe705SerfsTer?)
n.2698del
c.1166del (p.Phe389SerfsTer?)
c.656del (p.Phe219SerfsTer?)
c.*1112del (n.*1112del)
c.2510del (p.Phe837SerfsTer?)
c.2492del (p.Phe831SerfsTer?)
 gnomAD v4
22g.50720345_50720346insCTGCA2657583004SHANK3c.2113_2114insCTG (p.Phe705delinsSerVal)
n.2697_2698insCTG
c.1165_1166insCTG (p.Phe389delinsSerVal)
c.655_656insCTG (p.Phe219delinsSerVal)
c.*1111_*1112insCTG (n.*1111_*1112insCTG)
c.2509_2510insCTG (p.Phe837delinsSerVal)
c.2491_2492insCTG (p.Phe831delinsSerVal)
 gnomAD v4
22g.50720346T>ACA515259001SHANK3c.2114T>A (p.Phe705Tyr)
n.2698T>A
c.1166T>A (p.Phe389Tyr)
c.656T>A (p.Phe219Tyr)
c.*1112T>A (n.*1112T>A)
c.2510T>A (p.Phe837Tyr)
c.2492T>A (p.Phe831Tyr)
22g.50720346T>CCA515258999SHANK3c.2114T>C (p.Phe705Ser)
n.2698T>C
c.1166T>C (p.Phe389Ser)
c.656T>C (p.Phe219Ser)
c.*1112T>C (n.*1112T>C)
c.2510T>C (p.Phe837Ser)
c.2492T>C (p.Phe831Ser)
 gnomAD v4
22g.50720346T>GCA515259000SHANK3c.2114T>G (p.Phe705Cys)
n.2698T>G
c.1166T>G (p.Phe389Cys)
c.656T>G (p.Phe219Cys)
c.*1112T>G (n.*1112T>G)
c.2510T>G (p.Phe837Cys)
c.2492T>G (p.Phe831Cys)
22g.50720347C>ACA515259002SHANK3c.2115C>A (p.Phe705Leu)
n.2699C>A
c.1167C>A (p.Phe389Leu)
c.657C>A (p.Phe219Leu)
c.*1113C>A (n.*1113C>A)
c.2511C>A (p.Phe837Leu)
c.2493C>A (p.Phe831Leu)
 gnomAD v4
22g.50720347C>GCA515259003SHANK3c.2115C>G (p.Phe705Leu)
n.2699C>G
c.1167C>G (p.Phe389Leu)
c.657C>G (p.Phe219Leu)
c.*1113C>G (n.*1113C>G)
c.2511C>G (p.Phe837Leu)
c.2493C>G (p.Phe831Leu)
 gnomAD v4
22g.50720347C>TCA515259004SHANK3c.2115C>T (p.Phe705=)
n.2699C>T
c.1167C>T (p.Phe389=)
c.657C>T (p.Phe219=)
c.*1113C>T (n.*1113C>T)
c.2511C>T (p.Phe837=)
c.2493C>T (p.Phe831=)
 gnomAD v4
22g.50720348T>ACA515259005SHANK3c.2116T>A (p.Ser706Thr)
n.2700T>A
c.1168T>A (p.Ser390Thr)
c.658T>A (p.Ser220Thr)
c.*1114T>A (n.*1114T>A)
c.2512T>A (p.Ser838Thr)
c.2494T>A (p.Ser832Thr)
 gnomAD v4
22g.50720348T>CCA515259006SHANK3c.2116T>C (p.Ser706Pro)
n.2700T>C
c.1168T>C (p.Ser390Pro)
c.658T>C (p.Ser220Pro)
c.*1114T>C (n.*1114T>C)
c.2512T>C (p.Ser838Pro)
c.2494T>C (p.Ser832Pro)
 gnomAD v4
22g.50720348T>GCA515259007SHANK3c.2116T>G (p.Ser706Ala)
n.2700T>G
c.1168T>G (p.Ser390Ala)
c.658T>G (p.Ser220Ala)
c.*1114T>G (n.*1114T>G)
c.2512T>G (p.Ser838Ala)
c.2494T>G (p.Ser832Ala)
22g.50720349C>ACA515259008SHANK3c.2117C>A (p.Ser706Ter)
n.2701C>A
c.1169C>A (p.Ser390Ter)
c.659C>A (p.Ser220Ter)
c.*1115C>A (n.*1115C>A)
c.2513C>A (p.Ser838Ter)
c.2495C>A (p.Ser832Ter)
 gnomAD v4
22g.50720349C=CA2411007572SHANK3c.2117C= (p.Ser706=)
n.2701C=
c.1169C= (p.Ser390=)
c.659C= (p.Ser220=)
c.*1115C= (n.*1115C=)
c.2513C= (p.Ser838=)
c.2495C= (p.Ser832=)
22g.50720349C>GCA515259009SHANK3c.2117C>G (p.Ser706Trp)
n.2701C>G
c.1169C>G (p.Ser390Trp)
c.659C>G (p.Ser220Trp)
c.*1115C>G (n.*1115C>G)
c.2513C>G (p.Ser838Trp)
c.2495C>G (p.Ser832Trp)
22g.50720349C>TCA515259010SHANK3c.2117C>T (p.Ser706Leu)
n.2701C>T
c.1169C>T (p.Ser390Leu)
c.659C>T (p.Ser220Leu)
c.*1115C>T (n.*1115C>T)
c.2513C>T (p.Ser838Leu)
c.2495C>T (p.Ser832Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720356_50720358dupCA2577768679SHANK3c.2124_2126dup (p.Pro709_Pro710insPro)
n.2708_2710dup
c.1176_1178dup (p.Pro393_Pro394insPro)
c.666_668dup (p.Pro223_Pro224insPro)
c.*1122_*1124dup (n.*1122_*1124dup)
c.2520_2522dup (p.Pro841_Pro842insPro)
c.2502_2504dup (p.Pro835_Pro836insPro)
22g.50720356_50720358delCA2657583013SHANK3c.2124_2126del (p.Pro709del)
n.2708_2710del
c.1176_1178del (p.Pro393del)
c.666_668del (p.Pro223del)
c.*1122_*1124del (n.*1122_*1124del)
c.2520_2522del (p.Pro841del)
c.2502_2504del (p.Pro835del)
 gnomAD v4
22g.50720350G>ACA515259011SHANK3c.2118G>A (p.Ser706=)
n.2702G>A
c.1170G>A (p.Ser390=)
c.660G>A (p.Ser220=)
c.*1116G>A (n.*1116G>A)
c.2514G>A (p.Ser838=)
c.2496G>A (p.Ser832=)
 dbSNP gnomAD v4
22g.50720350G>CCA515259012SHANK3c.2118G>C (p.Ser706=)
n.2702G>C
c.1170G>C (p.Ser390=)
c.660G>C (p.Ser220=)
c.*1116G>C (n.*1116G>C)
c.2514G>C (p.Ser838=)
c.2496G>C (p.Ser832=)
 gnomAD v4
22g.50720350G=CA2411007573SHANK3c.2118G= (p.Ser706=)
n.2702G=
c.1170G= (p.Ser390=)
c.660G= (p.Ser220=)
c.*1116G= (n.*1116G=)
c.2514G= (p.Ser838=)
c.2496G= (p.Ser832=)
22g.50720350G>TCA515259013SHANK3c.2118G>T (p.Ser706=)
n.2702G>T
c.1170G>T (p.Ser390=)
c.660G>T (p.Ser220=)
c.*1116G>T (n.*1116G>T)
c.2514G>T (p.Ser838=)
c.2496G>T (p.Ser832=)
 gnomAD v4
22g.50720351C>ACA515259016SHANK3c.2119C>A (p.Pro707Thr)
n.2703C>A
c.1171C>A (p.Pro391Thr)
c.661C>A (p.Pro221Thr)
c.*1117C>A (n.*1117C>A)
c.2515C>A (p.Pro839Thr)
c.2497C>A (p.Pro833Thr)
 gnomAD v4
22g.50720351C>GCA515259015SHANK3c.2119C>G (p.Pro707Ala)
n.2703C>G
c.1171C>G (p.Pro391Ala)
c.661C>G (p.Pro221Ala)
c.*1117C>G (n.*1117C>G)
c.2515C>G (p.Pro839Ala)
c.2497C>G (p.Pro833Ala)
22g.50720351C>TCA515259014SHANK3c.2119C>T (p.Pro707Ser)
n.2703C>T
c.1171C>T (p.Pro391Ser)
c.661C>T (p.Pro221Ser)
c.*1117C>T (n.*1117C>T)
c.2515C>T (p.Pro839Ser)
c.2497C>T (p.Pro833Ser)
 gnomAD v4
22g.50720352C>ACA515259019SHANK3c.2120C>A (p.Pro707Gln)
n.2704C>A
c.1172C>A (p.Pro391Gln)
c.662C>A (p.Pro221Gln)
c.*1118C>A (n.*1118C>A)
c.2516C>A (p.Pro839Gln)
c.2498C>A (p.Pro833Gln)
 gnomAD v4
22g.50720352C>GCA515259017SHANK3c.2120C>G (p.Pro707Arg)
n.2704C>G
c.1172C>G (p.Pro391Arg)
c.662C>G (p.Pro221Arg)
c.*1118C>G (n.*1118C>G)
c.2516C>G (p.Pro839Arg)
c.2498C>G (p.Pro833Arg)
22g.50720352C>TCA515259018SHANK3c.2120C>T (p.Pro707Leu)
n.2704C>T
c.1172C>T (p.Pro391Leu)
c.662C>T (p.Pro221Leu)
c.*1118C>T (n.*1118C>T)
c.2516C>T (p.Pro839Leu)
c.2498C>T (p.Pro833Leu)
 gnomAD v4
22g.50720353G>ACA515259020SHANK3c.2121G>A (p.Pro707=)
n.2705G>A
c.1173G>A (p.Pro391=)
c.663G>A (p.Pro221=)
c.*1119G>A (n.*1119G>A)
c.2517G>A (p.Pro839=)
c.2499G>A (p.Pro833=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720353G>CCA515259021SHANK3c.2121G>C (p.Pro707=)
n.2705G>C
c.1173G>C (p.Pro391=)
c.663G>C (p.Pro221=)
c.*1119G>C (n.*1119G>C)
c.2517G>C (p.Pro839=)
c.2499G>C (p.Pro833=)
 gnomAD v4
22g.50720353G=CA2411007574SHANK3c.2121G= (p.Pro707=)
n.2705G=
c.1173G= (p.Pro391=)
c.663G= (p.Pro221=)
c.*1119G= (n.*1119G=)
c.2517G= (p.Pro839=)
c.2499G= (p.Pro833=)
22g.50720353G>TCA515259022SHANK3c.2121G>T (p.Pro707=)
n.2705G>T
c.1173G>T (p.Pro391=)
c.663G>T (p.Pro221=)
c.*1119G>T (n.*1119G>T)
c.2517G>T (p.Pro839=)
c.2499G>T (p.Pro833=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720354C>ACA515259025SHANK3c.2122C>A (p.Pro708Thr)
n.2706C>A
c.1174C>A (p.Pro392Thr)
c.664C>A (p.Pro222Thr)
c.*1120C>A (n.*1120C>A)
c.2518C>A (p.Pro840Thr)
c.2500C>A (p.Pro834Thr)
 gnomAD v4
22g.50720354C>GCA515259024SHANK3c.2122C>G (p.Pro708Ala)
n.2706C>G
c.1174C>G (p.Pro392Ala)
c.664C>G (p.Pro222Ala)
c.*1120C>G (n.*1120C>G)
c.2518C>G (p.Pro840Ala)
c.2500C>G (p.Pro834Ala)
 gnomAD v4
22g.50720354C>TCA515259023SHANK3c.2122C>T (p.Pro708Ser)
n.2706C>T
c.1174C>T (p.Pro392Ser)
c.664C>T (p.Pro222Ser)
c.*1120C>T (n.*1120C>T)
c.2518C>T (p.Pro840Ser)
c.2500C>T (p.Pro834Ser)
 gnomAD v4
22g.50720359_50720364dupCA2657583024SHANK3c.2127_2132dup (p.Pro711_Gly712insProPro)
n.2711_2716dup
c.1179_1184dup (p.Pro395_Gly396insProPro)
c.669_674dup (p.Pro225_Gly226insProPro)
c.*1125_*1130dup (n.*1125_*1130dup)
c.2523_2528dup (p.Pro843_Gly844insProPro)
c.2505_2510dup (p.Pro837_Gly838insProPro)
 gnomAD v4
22g.50720355C>ACA515259026SHANK3c.2123C>A (p.Pro708Gln)
n.2707C>A
c.1175C>A (p.Pro392Gln)
c.665C>A (p.Pro222Gln)
c.*1121C>A (n.*1121C>A)
c.2519C>A (p.Pro840Gln)
c.2501C>A (p.Pro834Gln)
 dbSNP gnomAD v4
22g.50720355C=CA2411007575SHANK3c.2123C= (p.Pro708=)
n.2707C=
c.1175C= (p.Pro392=)
c.665C= (p.Pro222=)
c.*1121C= (n.*1121C=)
c.2519C= (p.Pro840=)
c.2501C= (p.Pro834=)
22g.50720355C>GCA515259027SHANK3c.2123C>G (p.Pro708Arg)
n.2707C>G
c.1175C>G (p.Pro392Arg)
c.665C>G (p.Pro222Arg)
c.*1121C>G (n.*1121C>G)
c.2519C>G (p.Pro840Arg)
c.2501C>G (p.Pro834Arg)
 gnomAD v4
22g.50720355C>TCA515259028SHANK3c.2123C>T (p.Pro708Leu)
n.2707C>T
c.1175C>T (p.Pro392Leu)
c.665C>T (p.Pro222Leu)
c.*1121C>T (n.*1121C>T)
c.2519C>T (p.Pro840Leu)
c.2501C>T (p.Pro834Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.50720356_50720357delCA2657583028SHANK3c.2124_2125del (p.Pro710AlafsTer?)
n.2708_2709del
c.1176_1177del (p.Pro394AlafsTer?)
c.666_667del (p.Pro224AlafsTer?)
c.*1122_*1123del (n.*1122_*1123del)
c.2520_2521del (p.Pro842AlafsTer?)
c.2502_2503del (p.Pro836AlafsTer?)
 gnomAD v4
22g.50720356delCA2657583029SHANK3c.2124del (p.Pro710ArgfsTer?)
n.2708del
c.1176del (p.Pro394ArgfsTer?)
c.666del (p.Pro224ArgfsTer?)
c.*1122del (n.*1122del)
c.2520del (p.Pro842ArgfsTer?)
c.2502del (p.Pro836ArgfsTer?)
 gnomAD v4
22g.50720356G>ACA325578056SHANK3c.2124G>A (p.Pro708=)
n.2708G>A
c.1176G>A (p.Pro392=)
c.666G>A (p.Pro222=)
c.*1122G>A (n.*1122G>A)
c.2520G>A (p.Pro840=)
c.2502G>A (p.Pro834=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720356G>CCA515259029SHANK3c.2124G>C (p.Pro708=)
n.2708G>C
c.1176G>C (p.Pro392=)
c.666G>C (p.Pro222=)
c.*1122G>C (n.*1122G>C)
c.2520G>C (p.Pro840=)
c.2502G>C (p.Pro834=)
 gnomAD v4
22g.50720356G=CA2411007576SHANK3c.2124G= (p.Pro708=)
n.2708G=
c.1176G= (p.Pro392=)
c.666G= (p.Pro222=)
c.*1122G= (n.*1122G=)
c.2520G= (p.Pro840=)
c.2502G= (p.Pro834=)
22g.50720356G>TCA515259030SHANK3c.2124G>T (p.Pro708=)
n.2708G>T
c.1176G>T (p.Pro392=)
c.666G>T (p.Pro222=)
c.*1122G>T (n.*1122G>T)
c.2520G>T (p.Pro840=)
c.2502G>T (p.Pro834=)
 gnomAD v4
22g.50720356_50720357delinsGCCA2411007577SHANK3c.2124_2125delinsGC (p.Pro708=)
n.2708_2709delinsGC
c.1176_1177delinsGC (p.Pro392=)
c.666_667delinsGC (p.Pro222=)
c.*1122_*1123delinsGC (n.*1122_*1123delinsGC)
c.2520_2521delinsGC (p.Pro840=)
c.2502_2503delinsGC (p.Pro834=)
22g.50720357C>ACA515259034SHANK3c.2125C>A (p.Pro709Thr)
n.2709C>A
c.1177C>A (p.Pro393Thr)
c.667C>A (p.Pro223Thr)
c.*1123C>A (n.*1123C>A)
c.2521C>A (p.Pro841Thr)
c.2503C>A (p.Pro835Thr)
 gnomAD v4
22g.50720357C>GCA515259031SHANK3c.2125C>G (p.Pro709Ala)
n.2709C>G
c.1177C>G (p.Pro393Ala)
c.667C>G (p.Pro223Ala)
c.*1123C>G (n.*1123C>G)
c.2521C>G (p.Pro841Ala)
c.2503C>G (p.Pro835Ala)
22g.50720357C>TCA515259033SHANK3c.2125C>T (p.Pro709Ser)
n.2709C>T
c.1177C>T (p.Pro393Ser)
c.667C>T (p.Pro223Ser)
c.*1123C>T (n.*1123C>T)
c.2521C>T (p.Pro841Ser)
c.2503C>T (p.Pro835Ser)
 dbSNP gnomAD v4
22g.50720361dupCA2657583031SHANK3c.2129dup (p.Pro711AlafsTer?)
n.2713dup
c.1181dup (p.Pro395AlafsTer?)
c.671dup (p.Pro225AlafsTer?)
c.*1127dup (n.*1127dup)
c.2525dup (p.Pro843AlafsTer?)
c.2507dup (p.Pro837AlafsTer?)
 gnomAD v4
22g.50720361delCA515259032SHANK3c.2129del (p.Pro710ArgfsTer?)
n.2713del
c.1181del (p.Pro394ArgfsTer?)
c.671del (p.Pro224ArgfsTer?)
c.*1127del (n.*1127del)
c.2525del (p.Pro842ArgfsTer?)
c.2507del (p.Pro836ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
22g.50720358C>ACA515259035SHANK3c.2126C>A (p.Pro709His)
n.2710C>A
c.1178C>A (p.Pro393His)
c.668C>A (p.Pro223His)
c.*1124C>A (n.*1124C>A)
c.2522C>A (p.Pro841His)
c.2504C>A (p.Pro835His)
 gnomAD v4
22g.50720358C>GCA515259036SHANK3c.2126C>G (p.Pro709Arg)
n.2710C>G
c.1178C>G (p.Pro393Arg)
c.668C>G (p.Pro223Arg)
c.*1124C>G (n.*1124C>G)
c.2522C>G (p.Pro841Arg)
c.2504C>G (p.Pro835Arg)
 gnomAD v4
22g.50720358C>TCA515259037SHANK3c.2126C>T (p.Pro709Leu)
n.2710C>T
c.1178C>T (p.Pro393Leu)
c.668C>T (p.Pro223Leu)
c.*1124C>T (n.*1124C>T)
c.2522C>T (p.Pro841Leu)
c.2504C>T (p.Pro835Leu)
 gnomAD v4
22g.50720359C>ACA515259038SHANK3c.2127C>A (p.Pro709=)
n.2711C>A
c.1179C>A (p.Pro393=)
c.669C>A (p.Pro223=)
c.*1125C>A (n.*1125C>A)
c.2523C>A (p.Pro841=)
c.2505C>A (p.Pro835=)
 gnomAD v4
22g.50720359C=CA2411007578SHANK3c.2127C= (p.Pro709=)
n.2711C=
c.1179C= (p.Pro393=)
c.669C= (p.Pro223=)
c.*1125C= (n.*1125C=)
c.2523C= (p.Pro841=)
c.2505C= (p.Pro835=)
22g.50720359C>GCA515259039SHANK3c.2127C>G (p.Pro709=)
n.2711C>G
c.1179C>G (p.Pro393=)
c.669C>G (p.Pro223=)
c.*1125C>G (n.*1125C>G)
c.2523C>G (p.Pro841=)
c.2505C>G (p.Pro835=)
 dbSNP gnomAD v4
22g.50720359C>TCA515259040SHANK3c.2127C>T (p.Pro709=)
n.2711C>T
c.1179C>T (p.Pro393=)
c.669C>T (p.Pro223=)
c.*1125C>T (n.*1125C>T)
c.2523C>T (p.Pro841=)
c.2505C>T (p.Pro835=)
 gnomAD v4
22g.50720360C>ACA515259041SHANK3c.2128C>A (p.Pro710Thr)
n.2712C>A
c.1180C>A (p.Pro394Thr)
c.670C>A (p.Pro224Thr)
c.*1126C>A (n.*1126C>A)
c.2524C>A (p.Pro842Thr)
c.2506C>A (p.Pro836Thr)
 gnomAD v4
22g.50720360C>GCA515259042SHANK3c.2128C>G (p.Pro710Ala)
n.2712C>G
c.1180C>G (p.Pro394Ala)
c.670C>G (p.Pro224Ala)
c.*1126C>G (n.*1126C>G)
c.2524C>G (p.Pro842Ala)
c.2506C>G (p.Pro836Ala)
 gnomAD v4
22g.50720360C>TCA515259043SHANK3c.2128C>T (p.Pro710Ser)
n.2712C>T
c.1180C>T (p.Pro394Ser)
c.670C>T (p.Pro224Ser)
c.*1126C>T (n.*1126C>T)
c.2524C>T (p.Pro842Ser)
c.2506C>T (p.Pro836Ser)
 gnomAD v4
22g.50720363_50720365delCA2657583036SHANK3c.2131_2133del (p.Pro711del)
n.2715_2717del
c.1183_1185del (p.Pro395del)
c.673_675del (p.Pro225del)
c.*1129_*1131del (n.*1129_*1131del)
c.2527_2529del (p.Pro843del)
c.2509_2511del (p.Pro837del)
 gnomAD v4
22g.50720361C>ACA515259044SHANK3c.2129C>A (p.Pro710Gln)
n.2713C>A
c.1181C>A (p.Pro394Gln)
c.671C>A (p.Pro224Gln)
c.*1127C>A (n.*1127C>A)
c.2525C>A (p.Pro842Gln)
c.2507C>A (p.Pro836Gln)
 gnomAD v4
22g.50720361C>GCA515259045SHANK3c.2129C>G (p.Pro710Arg)
n.2713C>G
c.1181C>G (p.Pro394Arg)
c.671C>G (p.Pro224Arg)
c.*1127C>G (n.*1127C>G)
c.2525C>G (p.Pro842Arg)
c.2507C>G (p.Pro836Arg)
 gnomAD v4
22g.50720361C>TCA515259046SHANK3c.2129C>T (p.Pro710Leu)
n.2713C>T
c.1181C>T (p.Pro394Leu)
c.671C>T (p.Pro224Leu)
c.*1127C>T (n.*1127C>T)
c.2525C>T (p.Pro842Leu)
c.2507C>T (p.Pro836Leu)
 gnomAD v4
22g.50720365_50720374delCA2657583037SHANK3c.2133_2142del (p.Gly712ThrfsTer?)
n.2717_2726del
c.1185_1194del (p.Gly396ThrfsTer?)
c.675_684del (p.Gly226ThrfsTer?)
c.*1131_*1140del (n.*1131_*1140del)
c.2529_2538del (p.Gly844ThrfsTer?)
c.2511_2520del (p.Gly838ThrfsTer?)
 gnomAD v4
22g.50720361_50720362insTCA2657583041SHANK3c.2129_2130insT (p.Pro711AlafsTer?)
n.2713_2714insT
c.1181_1182insT (p.Pro395AlafsTer?)
c.671_672insT (p.Pro225AlafsTer?)
c.*1127_*1128insT (n.*1127_*1128insT)
c.2525_2526insT (p.Pro843AlafsTer?)
c.2507_2508insT (p.Pro837AlafsTer?)
 gnomAD v4
22g.50720362delCA2657583040SHANK3c.2130del (p.Pro711ArgfsTer?)
n.2714del
c.1182del (p.Pro395ArgfsTer?)
c.672del (p.Pro225ArgfsTer?)
c.*1128del (n.*1128del)
c.2526del (p.Pro843ArgfsTer?)
c.2508del (p.Pro837ArgfsTer?)
 gnomAD v4
22g.50720362G>ACA515259047SHANK3c.2130G>A (p.Pro710=)
n.2714G>A
c.1182G>A (p.Pro394=)
c.672G>A (p.Pro224=)
c.*1128G>A (n.*1128G>A)
c.2526G>A (p.Pro842=)
c.2508G>A (p.Pro836=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720362G>CCA515259049SHANK3c.2130G>C (p.Pro710=)
n.2714G>C
c.1182G>C (p.Pro394=)
c.672G>C (p.Pro224=)
c.*1128G>C (n.*1128G>C)
c.2526G>C (p.Pro842=)
c.2508G>C (p.Pro836=)
 dbSNP gnomAD v4
22g.50720362G=CA2411007579SHANK3c.2130G= (p.Pro710=)
n.2714G=
c.1182G= (p.Pro394=)
c.672G= (p.Pro224=)
c.*1128G= (n.*1128G=)
c.2526G= (p.Pro842=)
c.2508G= (p.Pro836=)
22g.50720362G>TCA515259048SHANK3c.2130G>T (p.Pro710=)
n.2714G>T
c.1182G>T (p.Pro394=)
c.672G>T (p.Pro224=)
c.*1128G>T (n.*1128G>T)
c.2526G>T (p.Pro842=)
c.2508G>T (p.Pro836=)
 gnomAD v4
22g.50720363C>ACA515259050SHANK3c.2131C>A (p.Pro711Thr)
n.2715C>A
c.1183C>A (p.Pro395Thr)
c.673C>A (p.Pro225Thr)
c.*1129C>A (n.*1129C>A)
c.2527C>A (p.Pro843Thr)
c.2509C>A (p.Pro837Thr)
 gnomAD v4
22g.50720363C>GCA515259051SHANK3c.2131C>G (p.Pro711Ala)
n.2715C>G
c.1183C>G (p.Pro395Ala)
c.673C>G (p.Pro225Ala)
c.*1129C>G (n.*1129C>G)
c.2527C>G (p.Pro843Ala)
c.2509C>G (p.Pro837Ala)
 gnomAD v4
22g.50720363C>TCA515259052SHANK3c.2131C>T (p.Pro711Ser)
n.2715C>T
c.1183C>T (p.Pro395Ser)
c.673C>T (p.Pro225Ser)
c.*1129C>T (n.*1129C>T)
c.2527C>T (p.Pro843Ser)
c.2509C>T (p.Pro837Ser)
 gnomAD v4
22g.50720364C>ACA515259053SHANK3c.2132C>A (p.Pro711Gln)
n.2716C>A
c.1184C>A (p.Pro395Gln)
c.674C>A (p.Pro225Gln)
c.*1130C>A (n.*1130C>A)
c.2528C>A (p.Pro843Gln)
c.2510C>A (p.Pro837Gln)
 gnomAD v4
22g.50720364C>GCA515259054SHANK3c.2132C>G (p.Pro711Arg)
n.2716C>G
c.1184C>G (p.Pro395Arg)
c.674C>G (p.Pro225Arg)
c.*1130C>G (n.*1130C>G)
c.2528C>G (p.Pro843Arg)
c.2510C>G (p.Pro837Arg)
 gnomAD v4
22g.50720364C>TCA515259055SHANK3c.2132C>T (p.Pro711Leu)
n.2716C>T
c.1184C>T (p.Pro395Leu)
c.674C>T (p.Pro225Leu)
c.*1130C>T (n.*1130C>T)
c.2528C>T (p.Pro843Leu)
c.2510C>T (p.Pro837Leu)
 gnomAD v4
22g.50720365G>ACA515259056SHANK3c.2133G>A (p.Pro711=)
n.2717G>A
c.1185G>A (p.Pro395=)
c.675G>A (p.Pro225=)
c.*1131G>A (n.*1131G>A)
c.2529G>A (p.Pro843=)
c.2511G>A (p.Pro837=)
 gnomAD v4
22g.50720365G>CCA515259057SHANK3c.2133G>C (p.Pro711=)
n.2717G>C
c.1185G>C (p.Pro395=)
c.675G>C (p.Pro225=)
c.*1131G>C (n.*1131G>C)
c.2529G>C (p.Pro843=)
c.2511G>C (p.Pro837=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720365G=CA2411007580SHANK3c.2133G= (p.Pro711=)
n.2717G=
c.1185G= (p.Pro395=)
c.675G= (p.Pro225=)
c.*1131G= (n.*1131G=)
c.2529G= (p.Pro843=)
c.2511G= (p.Pro837=)
22g.50720365G>TCA515259058SHANK3c.2133G>T (p.Pro711=)
n.2717G>T
c.1185G>T (p.Pro395=)
c.675G>T (p.Pro225=)
c.*1131G>T (n.*1131G>T)
c.2529G>T (p.Pro843=)
c.2511G>T (p.Pro837=)
 gnomAD v4
22g.50720367delCA2657583042SHANK3c.2135del (p.Gly712AlafsTer?)
n.2719del
c.1187del (p.Gly396AlafsTer?)
c.677del (p.Gly226AlafsTer?)
c.*1133del (n.*1133del)
c.2531del (p.Gly844AlafsTer?)
c.2513del (p.Gly838AlafsTer?)
 gnomAD v4
22g.50720366G>ACA515259059SHANK3c.2134G>A (p.Gly712Ser)
n.2718G>A
c.1186G>A (p.Gly396Ser)
c.676G>A (p.Gly226Ser)
c.*1132G>A (n.*1132G>A)
c.2530G>A (p.Gly844Ser)
c.2512G>A (p.Gly838Ser)
 gnomAD v4
22g.50720366G>CCA515259060SHANK3c.2134G>C (p.Gly712Arg)
n.2718G>C
c.1186G>C (p.Gly396Arg)
c.676G>C (p.Gly226Arg)
c.*1132G>C (n.*1132G>C)
c.2530G>C (p.Gly844Arg)
c.2512G>C (p.Gly838Arg)
 gnomAD v4
22g.50720366G>TCA515259061SHANK3c.2134G>T (p.Gly712Cys)
n.2718G>T
c.1186G>T (p.Gly396Cys)
c.676G>T (p.Gly226Cys)
c.*1132G>T (n.*1132G>T)
c.2530G>T (p.Gly844Cys)
c.2512G>T (p.Gly838Cys)
 gnomAD v4
22g.50720367G>ACA515259063SHANK3c.2135G>A (p.Gly712Asp)
n.2719G>A
c.1187G>A (p.Gly396Asp)
c.677G>A (p.Gly226Asp)
c.*1133G>A (n.*1133G>A)
c.2531G>A (p.Gly844Asp)
c.2513G>A (p.Gly838Asp)
 dbSNP gnomAD v2 gnomAD v4
22g.50720367G>CCA325578060SHANK3c.2135G>C (p.Gly712Ala)
n.2719G>C
c.1187G>C (p.Gly396Ala)
c.677G>C (p.Gly226Ala)
c.*1133G>C (n.*1133G>C)
c.2531G>C (p.Gly844Ala)
c.2513G>C (p.Gly838Ala)
 dbSNP gnomAD v3 gnomAD v4
22g.50720367G=CA2411007581SHANK3c.2135G= (p.Gly712=)
n.2719G=
c.1187G= (p.Gly396=)
c.677G= (p.Gly226=)
c.*1133G= (n.*1133G=)
c.2531G= (p.Gly844=)
c.2513G= (p.Gly838=)
22g.50720367G>TCA515259062SHANK3c.2135G>T (p.Gly712Val)
n.2719G>T
c.1187G>T (p.Gly396Val)
c.677G>T (p.Gly226Val)
c.*1133G>T (n.*1133G>T)
c.2531G>T (p.Gly844Val)
c.2513G>T (p.Gly838Val)
 gnomAD v4
22g.50720368C>ACA515259064SHANK3c.2136C>A (p.Gly712=)
n.2720C>A
c.1188C>A (p.Gly396=)
c.678C>A (p.Gly226=)
c.*1134C>A (n.*1134C>A)
c.2532C>A (p.Gly844=)
c.2514C>A (p.Gly838=)
 gnomAD v4
22g.50720368C>GCA515259065SHANK3c.2136C>G (p.Gly712=)
n.2720C>G
c.1188C>G (p.Gly396=)
c.678C>G (p.Gly226=)
c.*1134C>G (n.*1134C>G)
c.2532C>G (p.Gly844=)
c.2514C>G (p.Gly838=)
 gnomAD v4
22g.50720368C>TCA515259066SHANK3c.2136C>T (p.Gly712=)
n.2720C>T
c.1188C>T (p.Gly396=)
c.678C>T (p.Gly226=)
c.*1134C>T (n.*1134C>T)
c.2532C>T (p.Gly844=)
c.2514C>T (p.Gly838=)
 gnomAD v4
22g.50720369C>ACA515259067SHANK3c.2137C>A (p.Arg713Ser)
n.2721C>A
c.1189C>A (p.Arg397Ser)
c.679C>A (p.Arg227Ser)
c.*1135C>A (n.*1135C>A)
c.2533C>A (p.Arg845Ser)
c.2515C>A (p.Arg839Ser)
 gnomAD v4
22g.50720369C=CA2411007582SHANK3c.2137C= (p.Arg713=)
n.2721C=
c.1189C= (p.Arg397=)
c.679C= (p.Arg227=)
c.*1135C= (n.*1135C=)
c.2533C= (p.Arg845=)
c.2515C= (p.Arg839=)
22g.50720369C>GCA515259068SHANK3c.2137C>G (p.Arg713Gly)
n.2721C>G
c.1189C>G (p.Arg397Gly)
c.679C>G (p.Arg227Gly)
c.*1135C>G (n.*1135C>G)
c.2533C>G (p.Arg845Gly)
c.2515C>G (p.Arg839Gly)
22g.50720369C>TCA515259069SHANK3c.2137C>T (p.Arg713Cys)
n.2721C>T
c.1189C>T (p.Arg397Cys)
c.679C>T (p.Arg227Cys)
c.*1135C>T (n.*1135C>T)
c.2533C>T (p.Arg845Cys)
c.2515C>T (p.Arg839Cys)
 dbSNP gnomAD v4
22g.50720370delCA2819315429SHANK3c.2138del (p.Arg713ProfsTer?)
n.2722del
c.1190del (p.Arg397ProfsTer?)
c.680del (p.Arg227ProfsTer?)
c.*1136del (n.*1136del)
c.2534del (p.Arg845ProfsTer?)
c.2516del (p.Arg839ProfsTer?)
22g.50720370G>ACA515259070SHANK3c.2138G>A (p.Arg713His)
n.2722G>A
c.1190G>A (p.Arg397His)
c.680G>A (p.Arg227His)
c.*1136G>A (n.*1136G>A)
c.2534G>A (p.Arg845His)
c.2516G>A (p.Arg839His)
 dbSNP gnomAD v3 gnomAD v4
22g.50720370G>CCA515259071SHANK3c.2138G>C (p.Arg713Pro)
n.2722G>C
c.1190G>C (p.Arg397Pro)
c.680G>C (p.Arg227Pro)
c.*1136G>C (n.*1136G>C)
c.2534G>C (p.Arg845Pro)
c.2516G>C (p.Arg839Pro)
 gnomAD v4
22g.50720370G=CA2411007583SHANK3c.2138G= (p.Arg713=)
n.2722G=
c.1190G= (p.Arg397=)
c.680G= (p.Arg227=)
c.*1136G= (n.*1136G=)
c.2534G= (p.Arg845=)
c.2516G= (p.Arg839=)
22g.50720370G>TCA515259072SHANK3c.2138G>T (p.Arg713Leu)
n.2722G>T
c.1190G>T (p.Arg397Leu)
c.680G>T (p.Arg227Leu)
c.*1136G>T (n.*1136G>T)
c.2534G>T (p.Arg845Leu)
c.2516G>T (p.Arg839Leu)
 dbSNP gnomAD v4
22g.50720371C>ACA515259073SHANK3c.2139C>A (p.Arg713=)
n.2723C>A
c.1191C>A (p.Arg397=)
c.681C>A (p.Arg227=)
c.*1137C>A (n.*1137C>A)
c.2535C>A (p.Arg845=)
c.2517C>A (p.Arg839=)
 gnomAD v4
22g.50720371C>GCA515259074SHANK3c.2139C>G (p.Arg713=)
n.2723C>G
c.1191C>G (p.Arg397=)
c.681C>G (p.Arg227=)
c.*1137C>G (n.*1137C>G)
c.2535C>G (p.Arg845=)
c.2517C>G (p.Arg839=)
22g.50720371C>TCA515259075SHANK3c.2139C>T (p.Arg713=)
n.2723C>T
c.1191C>T (p.Arg397=)
c.681C>T (p.Arg227=)
c.*1137C>T (n.*1137C>T)
c.2535C>T (p.Arg845=)
c.2517C>T (p.Arg839=)
 gnomAD v4
22g.50720372G>ACA515259077SHANK3c.2140G>A (p.Ala714Thr)
n.2724G>A
c.1192G>A (p.Ala398Thr)
c.682G>A (p.Ala228Thr)
c.*1138G>A (n.*1138G>A)
c.2536G>A (p.Ala846Thr)
c.2518G>A (p.Ala840Thr)
 dbSNP gnomAD v4
22g.50720372G>CCA515259078SHANK3c.2140G>C (p.Ala714Pro)
n.2724G>C
c.1192G>C (p.Ala398Pro)
c.682G>C (p.Ala228Pro)
c.*1138G>C (n.*1138G>C)
c.2536G>C (p.Ala846Pro)
c.2518G>C (p.Ala840Pro)
 gnomAD v4
22g.50720372G=CA2411007584SHANK3c.2140G= (p.Ala714=)
n.2724G=
c.1192G= (p.Ala398=)
c.682G= (p.Ala228=)
c.*1138G= (n.*1138G=)
c.2536G= (p.Ala846=)
c.2518G= (p.Ala840=)
22g.50720372G>TCA515259076SHANK3c.2140G>T (p.Ala714Ser)
n.2724G>T
c.1192G>T (p.Ala398Ser)
c.682G>T (p.Ala228Ser)
c.*1138G>T (n.*1138G>T)
c.2536G>T (p.Ala846Ser)
c.2518G>T (p.Ala840Ser)
 gnomAD v4
22g.50720373C>ACA515259079SHANK3c.2141C>A (p.Ala714Asp)
n.2725C>A
c.1193C>A (p.Ala398Asp)
c.683C>A (p.Ala228Asp)
c.*1139C>A (n.*1139C>A)
c.2537C>A (p.Ala846Asp)
c.2519C>A (p.Ala840Asp)
 gnomAD v4
22g.50720373C=CA2411007585SHANK3c.2141C= (p.Ala714=)
n.2725C=
c.1193C= (p.Ala398=)
c.683C= (p.Ala228=)
c.*1139C= (n.*1139C=)
c.2537C= (p.Ala846=)
c.2519C= (p.Ala840=)
22g.50720373C>GCA515259081SHANK3c.2141C>G (p.Ala714Gly)
n.2725C>G
c.1193C>G (p.Ala398Gly)
c.683C>G (p.Ala228Gly)
c.*1139C>G (n.*1139C>G)
c.2537C>G (p.Ala846Gly)
c.2519C>G (p.Ala840Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720373C>TCA515259080SHANK3c.2141C>T (p.Ala714Val)
n.2725C>T
c.1193C>T (p.Ala398Val)
c.683C>T (p.Ala228Val)
c.*1139C>T (n.*1139C>T)
c.2537C>T (p.Ala846Val)
c.2519C>T (p.Ala840Val)
 dbSNP gnomAD v4
22g.50720374C>ACA515259082SHANK3c.2142C>A (p.Ala714=)
n.2726C>A
c.1194C>A (p.Ala398=)
c.684C>A (p.Ala228=)
c.*1140C>A (n.*1140C>A)
c.2538C>A (p.Ala846=)
c.2520C>A (p.Ala840=)
 gnomAD v4
22g.50720374C>GCA515259083SHANK3c.2142C>G (p.Ala714=)
n.2726C>G
c.1194C>G (p.Ala398=)
c.684C>G (p.Ala228=)
c.*1140C>G (n.*1140C>G)
c.2538C>G (p.Ala846=)
c.2520C>G (p.Ala840=)
 gnomAD v4
22g.50720374C>TCA515259084SHANK3c.2142C>T (p.Ala714=)
n.2726C>T
c.1194C>T (p.Ala398=)
c.684C>T (p.Ala228=)
c.*1140C>T (n.*1140C>T)
c.2538C>T (p.Ala846=)
c.2520C>T (p.Ala840=)
 gnomAD v4
22g.50720375T>ACA515259085SHANK3c.2143T>A (p.Tyr715Asn)
n.2727T>A
c.1195T>A (p.Tyr399Asn)
c.685T>A (p.Tyr229Asn)
c.*1141T>A (n.*1141T>A)
c.2539T>A (p.Tyr847Asn)
c.2521T>A (p.Tyr841Asn)
 gnomAD v4
22g.50720375T>CCA515259086SHANK3c.2143T>C (p.Tyr715His)
n.2727T>C
c.1195T>C (p.Tyr399His)
c.685T>C (p.Tyr229His)
c.*1141T>C (n.*1141T>C)
c.2539T>C (p.Tyr847His)
c.2521T>C (p.Tyr841His)
 gnomAD v4
22g.50720375T>GCA515259087SHANK3c.2143T>G (p.Tyr715Asp)
n.2727T>G
c.1195T>G (p.Tyr399Asp)
c.685T>G (p.Tyr229Asp)
c.*1141T>G (n.*1141T>G)
c.2539T>G (p.Tyr847Asp)
c.2521T>G (p.Tyr841Asp)
22g.50720375_50720378delinsTACGCA2411007586SHANK3c.2143_2146delinsTACG (p.Tyr715=)
n.2727_2730delinsTACG
c.1195_1198delinsTACG (p.Tyr399=)
c.685_688delinsTACG (p.Tyr229=)
c.*1141_*1144delinsTACG (n.*1141_*1144delinsTACG)
c.2539_2542delinsTACG (p.Tyr847=)
c.2521_2524delinsTACG (p.Tyr841=)
22g.50720376A>CCA515259090SHANK3c.2144A>C (p.Tyr715Ser)
n.2728A>C
c.1196A>C (p.Tyr399Ser)
c.686A>C (p.Tyr229Ser)
c.*1142A>C (n.*1142A>C)
c.2540A>C (p.Tyr847Ser)
c.2522A>C (p.Tyr841Ser)
22g.50720376A>GCA515259089SHANK3c.2144A>G (p.Tyr715Cys)
n.2728A>G
c.1196A>G (p.Tyr399Cys)
c.686A>G (p.Tyr229Cys)
c.*1142A>G (n.*1142A>G)
c.2540A>G (p.Tyr847Cys)
c.2522A>G (p.Tyr841Cys)
 ClinVar gnomAD v4
22g.50720376A>TCA515259088SHANK3c.2144A>T (p.Tyr715Phe)
n.2728A>T
c.1196A>T (p.Tyr399Phe)
c.686A>T (p.Tyr229Phe)
c.*1142A>T (n.*1142A>T)
c.2540A>T (p.Tyr847Phe)
c.2522A>T (p.Tyr841Phe)
22g.50720378_50720380delCA1026671848SHANK3c.2146_2148del (p.Asp716del)
n.2730_2732del
c.1198_1200del (p.Asp400del)
c.688_690del (p.Asp230del)
c.*1144_*1146del (n.*1144_*1146del)
c.2542_2544del (p.Asp848del)
c.2524_2526del (p.Asp842del)
 dbSNP gnomAD v3 gnomAD v4
22g.50720377C>ACA515259091SHANK3c.2145C>A (p.Tyr715Ter)
n.2729C>A
c.1197C>A (p.Tyr399Ter)
c.687C>A (p.Tyr229Ter)
c.*1143C>A (n.*1143C>A)
c.2541C>A (p.Tyr847Ter)
c.2523C>A (p.Tyr841Ter)
 gnomAD v4
22g.50720377C=CA2411007587SHANK3c.2145C= (p.Tyr715=)
n.2729C=
c.1197C= (p.Tyr399=)
c.687C= (p.Tyr229=)
c.*1143C= (n.*1143C=)
c.2541C= (p.Tyr847=)
c.2523C= (p.Tyr841=)
22g.50720377C>GCA515259092SHANK3c.2145C>G (p.Tyr715Ter)
n.2729C>G
c.1197C>G (p.Tyr399Ter)
c.687C>G (p.Tyr229Ter)
c.*1143C>G (n.*1143C>G)
c.2541C>G (p.Tyr847Ter)
c.2523C>G (p.Tyr841Ter)
 ClinVar dbSNP gnomAD v4
22g.50720377C>TCA515259093SHANK3c.2145C>T (p.Tyr715=)
n.2729C>T
c.1197C>T (p.Tyr399=)
c.687C>T (p.Tyr229=)
c.*1143C>T (n.*1143C>T)
c.2541C>T (p.Tyr847=)
c.2523C>T (p.Tyr841=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720378G>ACA515259094SHANK3c.2146G>A (p.Asp716Asn)
n.2730G>A
c.1198G>A (p.Asp400Asn)
c.688G>A (p.Asp230Asn)
c.*1144G>A (n.*1144G>A)
c.2542G>A (p.Asp848Asn)
c.2524G>A (p.Asp842Asn)
 gnomAD v4
22g.50720378G>CCA515259095SHANK3c.2146G>C (p.Asp716His)
n.2730G>C
c.1198G>C (p.Asp400His)
c.688G>C (p.Asp230His)
c.*1144G>C (n.*1144G>C)
c.2542G>C (p.Asp848His)
c.2524G>C (p.Asp842His)
 gnomAD v4
22g.50720378G>TCA515259096SHANK3c.2146G>T (p.Asp716Tyr)
n.2730G>T
c.1198G>T (p.Asp400Tyr)
c.688G>T (p.Asp230Tyr)
c.*1144G>T (n.*1144G>T)
c.2542G>T (p.Asp848Tyr)
c.2524G>T (p.Asp842Tyr)
 gnomAD v4
22g.50720378dupCA2819315440SHANK3c.2146dup (p.Asp716GlyfsTer?)
n.2730dup
c.1198dup (p.Asp400GlyfsTer?)
c.688dup (p.Asp230GlyfsTer?)
c.*1144dup (n.*1144dup)
c.2542dup (p.Asp848GlyfsTer?)
c.2524dup (p.Asp842GlyfsTer?)
22g.50720379A=CA2411007588SHANK3c.2147A= (p.Asp716=)
n.2731A=
c.1199A= (p.Asp400=)
c.689A= (p.Asp230=)
c.*1145A= (n.*1145A=)
c.2543A= (p.Asp848=)
c.2525A= (p.Asp842=)
22g.50720379A>CCA515259097SHANK3c.2147A>C (p.Asp716Ala)
n.2731A>C
c.1199A>C (p.Asp400Ala)
c.689A>C (p.Asp230Ala)
c.*1145A>C (n.*1145A>C)
c.2543A>C (p.Asp848Ala)
c.2525A>C (p.Asp842Ala)
22g.50720379A>GCA515259099SHANK3c.2147A>G (p.Asp716Gly)
n.2731A>G
c.1199A>G (p.Asp400Gly)
c.689A>G (p.Asp230Gly)
c.*1145A>G (n.*1145A>G)
c.2543A>G (p.Asp848Gly)
c.2525A>G (p.Asp842Gly)
 dbSNP gnomAD v4
22g.50720379A>TCA515259098SHANK3c.2147A>T (p.Asp716Val)
n.2731A>T
c.1199A>T (p.Asp400Val)
c.689A>T (p.Asp230Val)
c.*1145A>T (n.*1145A>T)
c.2543A>T (p.Asp848Val)
c.2525A>T (p.Asp842Val)
 gnomAD v4
22g.50720380C>ACA515259100SHANK3c.2148C>A (p.Asp716Glu)
n.2732C>A
c.1200C>A (p.Asp400Glu)
c.690C>A (p.Asp230Glu)
c.*1146C>A (n.*1146C>A)
c.2544C>A (p.Asp848Glu)
c.2526C>A (p.Asp842Glu)
 gnomAD v4
22g.50720380C>GCA515259101SHANK3c.2148C>G (p.Asp716Glu)
n.2732C>G
c.1200C>G (p.Asp400Glu)
c.690C>G (p.Asp230Glu)
c.*1146C>G (n.*1146C>G)
c.2544C>G (p.Asp848Glu)
c.2526C>G (p.Asp842Glu)
 gnomAD v4
22g.50720380C>TCA515259102SHANK3c.2148C>T (p.Asp716=)
n.2732C>T
c.1200C>T (p.Asp400=)
c.690C>T (p.Asp230=)
c.*1146C>T (n.*1146C>T)
c.2544C>T (p.Asp848=)
c.2526C>T (p.Asp842=)
 gnomAD v4
22g.50720381A>CCA515259103SHANK3c.2149A>C (p.Thr717Pro)
n.2733A>C
c.1201A>C (p.Thr401Pro)
c.691A>C (p.Thr231Pro)
c.*1147A>C (n.*1147A>C)
c.2545A>C (p.Thr849Pro)
c.2527A>C (p.Thr843Pro)
 gnomAD v4
22g.50720381A>GCA515259104SHANK3c.2149A>G (p.Thr717Ala)
n.2733A>G
c.1201A>G (p.Thr401Ala)
c.691A>G (p.Thr231Ala)
c.*1147A>G (n.*1147A>G)
c.2545A>G (p.Thr849Ala)
c.2527A>G (p.Thr843Ala)
 gnomAD v4
22g.50720381A>TCA515259105SHANK3c.2149A>T (p.Thr717Ser)
n.2733A>T
c.1201A>T (p.Thr401Ser)
c.691A>T (p.Thr231Ser)
c.*1147A>T (n.*1147A>T)
c.2545A>T (p.Thr849Ser)
c.2527A>T (p.Thr843Ser)
 gnomAD v4
22g.50720382C>ACA515259106SHANK3c.2150C>A (p.Thr717Lys)
n.2734C>A
c.1202C>A (p.Thr401Lys)
c.692C>A (p.Thr231Lys)
c.*1148C>A (n.*1148C>A)
c.2546C>A (p.Thr849Lys)
c.2528C>A (p.Thr843Lys)
 gnomAD v4
22g.50720382C>GCA515259107SHANK3c.2150C>G (p.Thr717Arg)
n.2734C>G
c.1202C>G (p.Thr401Arg)
c.692C>G (p.Thr231Arg)
c.*1148C>G (n.*1148C>G)
c.2546C>G (p.Thr849Arg)
c.2528C>G (p.Thr843Arg)
22g.50720382C>TCA515259108SHANK3c.2150C>T (p.Thr717Met)
n.2734C>T
c.1202C>T (p.Thr401Met)
c.692C>T (p.Thr231Met)
c.*1148C>T (n.*1148C>T)
c.2546C>T (p.Thr849Met)
c.2528C>T (p.Thr843Met)
 gnomAD v4
22g.50720383G>ACA515259109SHANK3c.2151G>A (p.Thr717=)
n.2735G>A
c.1203G>A (p.Thr401=)
c.693G>A (p.Thr231=)
c.*1149G>A (n.*1149G>A)
c.2547G>A (p.Thr849=)
c.2529G>A (p.Thr843=)
 gnomAD v4
22g.50720383G>CCA515259110SHANK3c.2151G>C (p.Thr717=)
n.2735G>C
c.1203G>C (p.Thr401=)
c.693G>C (p.Thr231=)
c.*1149G>C (n.*1149G>C)
c.2547G>C (p.Thr849=)
c.2529G>C (p.Thr843=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720383G=CA2411007589SHANK3c.2151G= (p.Thr717=)
n.2735G=
c.1203G= (p.Thr401=)
c.693G= (p.Thr231=)
c.*1149G= (n.*1149G=)
c.2547G= (p.Thr849=)
c.2529G= (p.Thr843=)
22g.50720383G>TCA515259111SHANK3c.2151G>T (p.Thr717=)
n.2735G>T
c.1203G>T (p.Thr401=)
c.693G>T (p.Thr231=)
c.*1149G>T (n.*1149G>T)
c.2547G>T (p.Thr849=)
c.2529G>T (p.Thr843=)
 gnomAD v4
22g.50720384G>ACA515259112SHANK3c.2152G>A (p.Val718Met)
n.2736G>A
c.1204G>A (p.Val402Met)
c.694G>A (p.Val232Met)
c.*1150G>A (n.*1150G>A)
c.2548G>A (p.Val850Met)
c.2530G>A (p.Val844Met)
 gnomAD v4
22g.50720384G>CCA325578061SHANK3c.2152G>C (p.Val718Leu)
n.2736G>C
c.1204G>C (p.Val402Leu)
c.694G>C (p.Val232Leu)
c.*1150G>C (n.*1150G>C)
c.2548G>C (p.Val850Leu)
c.2530G>C (p.Val844Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.50720384G=CA2411007590SHANK3c.2152G= (p.Val718=)
n.2736G=
c.1204G= (p.Val402=)
c.694G= (p.Val232=)
c.*1150G= (n.*1150G=)
c.2548G= (p.Val850=)
c.2530G= (p.Val844=)
22g.50720384G>TCA515259113SHANK3c.2152G>T (p.Val718Leu)
n.2736G>T
c.1204G>T (p.Val402Leu)
c.694G>T (p.Val232Leu)
c.*1150G>T (n.*1150G>T)
c.2548G>T (p.Val850Leu)
c.2530G>T (p.Val844Leu)
 gnomAD v4
22g.50720385T>ACA515259114SHANK3c.2153T>A (p.Val718Glu)
n.2737T>A
c.1205T>A (p.Val402Glu)
c.695T>A (p.Val232Glu)
c.*1151T>A (n.*1151T>A)
c.2549T>A (p.Val850Glu)
c.2531T>A (p.Val844Glu)
 gnomAD v4
22g.50720385T>CCA515259115SHANK3c.2153T>C (p.Val718Ala)
n.2737T>C
c.1205T>C (p.Val402Ala)
c.695T>C (p.Val232Ala)
c.*1151T>C (n.*1151T>C)
c.2549T>C (p.Val850Ala)
c.2531T>C (p.Val844Ala)
 gnomAD v4
22g.50720385T>GCA515259116SHANK3c.2153T>G (p.Val718Gly)
n.2737T>G
c.1205T>G (p.Val402Gly)
c.695T>G (p.Val232Gly)
c.*1151T>G (n.*1151T>G)
c.2549T>G (p.Val850Gly)
c.2531T>G (p.Val844Gly)
 gnomAD v4
22g.50720386G>ACA515259117SHANK3c.2154G>A (p.Val718=)
n.2738G>A
c.1206G>A (p.Val402=)
c.696G>A (p.Val232=)
c.*1152G>A (n.*1152G>A)
c.2550G>A (p.Val850=)
c.2532G>A (p.Val844=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720386G>CCA515259118SHANK3c.2154G>C (p.Val718=)
n.2738G>C
c.1206G>C (p.Val402=)
c.696G>C (p.Val232=)
c.*1152G>C (n.*1152G>C)
c.2550G>C (p.Val850=)
c.2532G>C (p.Val844=)
 gnomAD v4
22g.50720386G=CA2411007591SHANK3c.2154G= (p.Val718=)
n.2738G=
c.1206G= (p.Val402=)
c.696G= (p.Val232=)
c.*1152G= (n.*1152G=)
c.2550G= (p.Val850=)
c.2532G= (p.Val844=)
22g.50720386G>TCA515259119SHANK3c.2154G>T (p.Val718=)
n.2738G>T
c.1206G>T (p.Val402=)
c.696G>T (p.Val232=)
c.*1152G>T (n.*1152G>T)
c.2550G>T (p.Val850=)
c.2532G>T (p.Val844=)
 gnomAD v4
22g.50720387C>ACA515259120SHANK3c.2155C>A (p.Arg719Ser)
n.2739C>A
c.1207C>A (p.Arg403Ser)
c.697C>A (p.Arg233Ser)
c.*1153C>A (n.*1153C>A)
c.2551C>A (p.Arg851Ser)
c.2533C>A (p.Arg845Ser)
 gnomAD v4
22g.50720387C>GCA515259121SHANK3c.2155C>G (p.Arg719Gly)
n.2739C>G
c.1207C>G (p.Arg403Gly)
c.697C>G (p.Arg233Gly)
c.*1153C>G (n.*1153C>G)
c.2551C>G (p.Arg851Gly)
c.2533C>G (p.Arg845Gly)
 gnomAD v4
22g.50720387C>TCA515259122SHANK3c.2155C>T (p.Arg719Cys)
n.2739C>T
c.1207C>T (p.Arg403Cys)
c.697C>T (p.Arg233Cys)
c.*1153C>T (n.*1153C>T)
c.2551C>T (p.Arg851Cys)
c.2533C>T (p.Arg845Cys)
 gnomAD v4
22g.50720387_50720388insCTCA2657583087SHANK3c.2155_2156insCT (p.Arg719ProfsTer?)
n.2739_2740insCT
c.1207_1208insCT (p.Arg403ProfsTer?)
c.697_698insCT (p.Arg233ProfsTer?)
c.*1153_*1154insCT (n.*1153_*1154insCT)
c.2551_2552insCT (p.Arg851ProfsTer?)
c.2533_2534insCT (p.Arg845ProfsTer?)
 gnomAD v4
22g.50720387_50720388insCAGTACA2819315456SHANK3c.2155_2156insCAGTA (p.Arg719ProfsTer?)
n.2739_2740insCAGTA
c.1207_1208insCAGTA (p.Arg403ProfsTer?)
c.697_698insCAGTA (p.Arg233ProfsTer?)
c.*1153_*1154insCAGTA (n.*1153_*1154insCAGTA)
c.2551_2552insCAGTA (p.Arg851ProfsTer?)
c.2533_2534insCAGTA (p.Arg845ProfsTer?)
22g.50720388G>ACA515259123SHANK3c.2156G>A (p.Arg719His)
n.2740G>A
c.1208G>A (p.Arg403His)
c.698G>A (p.Arg233His)
c.*1154G>A (n.*1154G>A)
c.2552G>A (p.Arg851His)
c.2534G>A (p.Arg845His)
 gnomAD v4
22g.50720388G>CCA515259124SHANK3c.2156G>C (p.Arg719Pro)
n.2740G>C
c.1208G>C (p.Arg403Pro)
c.698G>C (p.Arg233Pro)
c.*1154G>C (n.*1154G>C)
c.2552G>C (p.Arg851Pro)
c.2534G>C (p.Arg845Pro)
 gnomAD v4
22g.50720388G=CA2411007592SHANK3c.2156G= (p.Arg719=)
n.2740G=
c.1208G= (p.Arg403=)
c.698G= (p.Arg233=)
c.*1154G= (n.*1154G=)
c.2552G= (p.Arg851=)
c.2534G= (p.Arg845=)
22g.50720388G>TCA515259125SHANK3c.2156G>T (p.Arg719Leu)
n.2740G>T
c.1208G>T (p.Arg403Leu)
c.698G>T (p.Arg233Leu)
c.*1154G>T (n.*1154G>T)
c.2552G>T (p.Arg851Leu)
c.2534G>T (p.Arg845Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.50720388_50720389insTCTCTTATACACATCA2657583090SHANK3c.2156_2157insTCTCTTATACACAT (p.Ser720LeufsTer?)
n.2740_2741insTCTCTTATACACAT
c.1208_1209insTCTCTTATACACAT (p.Ser404LeufsTer?)
c.698_699insTCTCTTATACACAT (p.Ser234LeufsTer?)
c.*1154_*1155insTCTCTTATACACAT (n.*1154_*1155insTCTCTTATACACAT)
c.2552_2553insTCTCTTATACACAT (p.Ser852LeufsTer?)
c.2534_2535insTCTCTTATACACAT (p.Ser846LeufsTer?)
 gnomAD v4
22g.50720389C>ACA515259128SHANK3c.2157C>A (p.Arg719=)
n.2741C>A
c.1209C>A (p.Arg403=)
c.699C>A (p.Arg233=)
c.*1155C>A (n.*1155C>A)
c.2553C>A (p.Arg851=)
c.2535C>A (p.Arg845=)
 gnomAD v4
22g.50720389C=CA2411007593SHANK3c.2157C= (p.Arg719=)
n.2741C=
c.1209C= (p.Arg403=)
c.699C= (p.Arg233=)
c.*1155C= (n.*1155C=)
c.2553C= (p.Arg851=)
c.2535C= (p.Arg845=)
22g.50720389C>GCA515259127SHANK3c.2157C>G (p.Arg719=)
n.2741C>G
c.1209C>G (p.Arg403=)
c.699C>G (p.Arg233=)
c.*1155C>G (n.*1155C>G)
c.2553C>G (p.Arg851=)
c.2535C>G (p.Arg845=)
 gnomAD v4
22g.50720389C>TCA515259126SHANK3c.2157C>T (p.Arg719=)
n.2741C>T
c.1209C>T (p.Arg403=)
c.699C>T (p.Arg233=)
c.*1155C>T (n.*1155C>T)
c.2553C>T (p.Arg851=)
c.2535C>T (p.Arg845=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720390T>ACA515259129SHANK3c.2158T>A (p.Ser720Thr)
n.2742T>A
c.1210T>A (p.Ser404Thr)
c.700T>A (p.Ser234Thr)
c.*1156T>A (n.*1156T>A)
c.2554T>A (p.Ser852Thr)
c.2536T>A (p.Ser846Thr)
 gnomAD v4
22g.50720390T>CCA515259130SHANK3c.2158T>C (p.Ser720Pro)
n.2742T>C
c.1210T>C (p.Ser404Pro)
c.700T>C (p.Ser234Pro)
c.*1156T>C (n.*1156T>C)
c.2554T>C (p.Ser852Pro)
c.2536T>C (p.Ser846Pro)
 gnomAD v4
22g.50720390T>GCA515259131SHANK3c.2158T>G (p.Ser720Ala)
n.2742T>G
c.1210T>G (p.Ser404Ala)
c.700T>G (p.Ser234Ala)
c.*1156T>G (n.*1156T>G)
c.2554T>G (p.Ser852Ala)
c.2536T>G (p.Ser846Ala)
22g.50720391C>ACA515259132SHANK3c.2159C>A (p.Ser720Tyr)
n.2743C>A
c.1211C>A (p.Ser404Tyr)
c.701C>A (p.Ser234Tyr)
c.*1157C>A (n.*1157C>A)
c.2555C>A (p.Ser852Tyr)
c.2537C>A (p.Ser846Tyr)
 gnomAD v4
22g.50720391C>GCA515259133SHANK3c.2159C>G (p.Ser720Cys)
n.2743C>G
c.1211C>G (p.Ser404Cys)
c.701C>G (p.Ser234Cys)
c.*1157C>G (n.*1157C>G)
c.2555C>G (p.Ser852Cys)
c.2537C>G (p.Ser846Cys)
 gnomAD v4
22g.50720391C>TCA515259134SHANK3c.2159C>T (p.Ser720Phe)
n.2743C>T
c.1211C>T (p.Ser404Phe)
c.701C>T (p.Ser234Phe)
c.*1157C>T (n.*1157C>T)
c.2555C>T (p.Ser852Phe)
c.2537C>T (p.Ser846Phe)
 gnomAD v4
22g.50720392delCA2657583099SHANK3c.2160del (p.Ser721AlafsTer?)
n.2744del
c.1212del (p.Ser405AlafsTer?)
c.702del (p.Ser235AlafsTer?)
c.*1158del (n.*1158del)
c.2556del (p.Ser853AlafsTer?)
c.2538del (p.Ser847AlafsTer?)
 gnomAD v4
22g.50720392C>ACA515259135SHANK3c.2160C>A (p.Ser720=)
n.2744C>A
c.1212C>A (p.Ser404=)
c.702C>A (p.Ser234=)
c.*1158C>A (n.*1158C>A)
c.2556C>A (p.Ser852=)
c.2538C>A (p.Ser846=)
 gnomAD v4
22g.50720392C=CA2411007594SHANK3c.2160C= (p.Ser720=)
n.2744C=
c.1212C= (p.Ser404=)
c.702C= (p.Ser234=)
c.*1158C= (n.*1158C=)
c.2556C= (p.Ser852=)
c.2538C= (p.Ser846=)
22g.50720392C>GCA515259136SHANK3c.2160C>G (p.Ser720=)
n.2744C>G
c.1212C>G (p.Ser404=)
c.702C>G (p.Ser234=)
c.*1158C>G (n.*1158C>G)
c.2556C>G (p.Ser852=)
c.2538C>G (p.Ser846=)
 gnomAD v4
22g.50720392C>TCA325578062SHANK3c.2160C>T (p.Ser720=)
n.2744C>T
c.1212C>T (p.Ser404=)
c.702C>T (p.Ser234=)
c.*1158C>T (n.*1158C>T)
c.2556C>T (p.Ser852=)
c.2538C>T (p.Ser846=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720393A=CA2411007595SHANK3c.2161A= (p.Ser721=)
n.2745A=
c.1213A= (p.Ser405=)
c.703A= (p.Ser235=)
c.*1159A= (n.*1159A=)
c.2557A= (p.Ser853=)
c.2539A= (p.Ser847=)
22g.50720393A>CCA515259137SHANK3c.2161A>C (p.Ser721Arg)
n.2745A>C
c.1213A>C (p.Ser405Arg)
c.703A>C (p.Ser235Arg)
c.*1159A>C (n.*1159A>C)
c.2557A>C (p.Ser853Arg)
c.2539A>C (p.Ser847Arg)
 gnomAD v4
22g.50720393A>GCA515259138SHANK3c.2161A>G (p.Ser721Gly)
n.2745A>G
c.1213A>G (p.Ser405Gly)
c.703A>G (p.Ser235Gly)
c.*1159A>G (n.*1159A>G)
c.2557A>G (p.Ser853Gly)
c.2539A>G (p.Ser847Gly)
 gnomAD v4
22g.50720393A>TCA325578064SHANK3c.2161A>T (p.Ser721Cys)
n.2745A>T
c.1213A>T (p.Ser405Cys)
c.703A>T (p.Ser235Cys)
c.*1159A>T (n.*1159A>T)
c.2557A>T (p.Ser853Cys)
c.2539A>T (p.Ser847Cys)
 dbSNP gnomAD v3 gnomAD v4
22g.50720394G>ACA515259139SHANK3c.2162G>A (p.Ser721Asn)
n.2746G>A
c.1214G>A (p.Ser405Asn)
c.704G>A (p.Ser235Asn)
c.*1160G>A (n.*1160G>A)
c.2558G>A (p.Ser853Asn)
c.2540G>A (p.Ser847Asn)
 gnomAD v4
22g.50720394G>CCA515259141SHANK3c.2162G>C (p.Ser721Thr)
n.2746G>C
c.1214G>C (p.Ser405Thr)
c.704G>C (p.Ser235Thr)
c.*1160G>C (n.*1160G>C)
c.2558G>C (p.Ser853Thr)
c.2540G>C (p.Ser847Thr)
 gnomAD v4
22g.50720394G>TCA515259140SHANK3c.2162G>T (p.Ser721Ile)
n.2746G>T
c.1214G>T (p.Ser405Ile)
c.704G>T (p.Ser235Ile)
c.*1160G>T (n.*1160G>T)
c.2558G>T (p.Ser853Ile)
c.2540G>T (p.Ser847Ile)
 gnomAD v4
22g.50720395C>ACA515259142SHANK3c.2163C>A (p.Ser721Arg)
n.2747C>A
c.1215C>A (p.Ser405Arg)
c.705C>A (p.Ser235Arg)
c.*1161C>A (n.*1161C>A)
c.2559C>A (p.Ser853Arg)
c.2541C>A (p.Ser847Arg)
 gnomAD v4
22g.50720395C=CA2411007596SHANK3c.2163C= (p.Ser721=)
n.2747C=
c.1215C= (p.Ser405=)
c.705C= (p.Ser235=)
c.*1161C= (n.*1161C=)
c.2559C= (p.Ser853=)
c.2541C= (p.Ser847=)
22g.50720395C>GCA515259144SHANK3c.2163C>G (p.Ser721Arg)
n.2747C>G
c.1215C>G (p.Ser405Arg)
c.705C>G (p.Ser235Arg)
c.*1161C>G (n.*1161C>G)
c.2559C>G (p.Ser853Arg)
c.2541C>G (p.Ser847Arg)
 gnomAD v4
22g.50720395C>TCA515259143SHANK3c.2163C>T (p.Ser721=)
n.2747C>T
c.1215C>T (p.Ser405=)
c.705C>T (p.Ser235=)
c.*1161C>T (n.*1161C>T)
c.2559C>T (p.Ser853=)
c.2541C>T (p.Ser847=)
 dbSNP gnomAD v4
22g.50720396T>ACA515259145SHANK3c.2164T>A (p.Phe722Ile)
n.2748T>A
c.1216T>A (p.Phe406Ile)
c.706T>A (p.Phe236Ile)
c.*1162T>A (n.*1162T>A)
c.2560T>A (p.Phe854Ile)
c.2542T>A (p.Phe848Ile)
 gnomAD v4
22g.50720396T>CCA515259146SHANK3c.2164T>C (p.Phe722Leu)
n.2748T>C
c.1216T>C (p.Phe406Leu)
c.706T>C (p.Phe236Leu)
c.*1162T>C (n.*1162T>C)
c.2560T>C (p.Phe854Leu)
c.2542T>C (p.Phe848Leu)
 gnomAD v4
22g.50720396T>GCA515259147SHANK3c.2164T>G (p.Phe722Val)
n.2748T>G
c.1216T>G (p.Phe406Val)
c.706T>G (p.Phe236Val)
c.*1162T>G (n.*1162T>G)
c.2560T>G (p.Phe854Val)
c.2542T>G (p.Phe848Val)
 gnomAD v4
22g.50720397T>ACA515259148SHANK3c.2165T>A (p.Phe722Tyr)
n.2749T>A
c.1217T>A (p.Phe406Tyr)
c.707T>A (p.Phe236Tyr)
c.*1163T>A (n.*1163T>A)
c.2561T>A (p.Phe854Tyr)
c.2543T>A (p.Phe848Tyr)
22g.50720397T>CCA515259149SHANK3c.2165T>C (p.Phe722Ser)
n.2749T>C
c.1217T>C (p.Phe406Ser)
c.707T>C (p.Phe236Ser)
c.*1163T>C (n.*1163T>C)
c.2561T>C (p.Phe854Ser)
c.2543T>C (p.Phe848Ser)
 dbSNP gnomAD v3 gnomAD v4
22g.50720397T>GCA515259150SHANK3c.2165T>G (p.Phe722Cys)
n.2749T>G
c.1217T>G (p.Phe406Cys)
c.707T>G (p.Phe236Cys)
c.*1163T>G (n.*1163T>G)
c.2561T>G (p.Phe854Cys)
c.2543T>G (p.Phe848Cys)
 dbSNP gnomAD v3 gnomAD v4
22g.50720397T=CA2411007597SHANK3c.2165T= (p.Phe722=)
n.2749T=
c.1217T= (p.Phe406=)
c.707T= (p.Phe236=)
c.*1163T= (n.*1163T=)
c.2561T= (p.Phe854=)
c.2543T= (p.Phe848=)
22g.50720398C>ACA515259151SHANK3c.2166C>A (p.Phe722Leu)
n.2750C>A
c.1218C>A (p.Phe406Leu)
c.708C>A (p.Phe236Leu)
c.*1164C>A (n.*1164C>A)
c.2562C>A (p.Phe854Leu)
c.2544C>A (p.Phe848Leu)
 gnomAD v4
22g.50720398C>GCA515259152SHANK3c.2166C>G (p.Phe722Leu)
n.2750C>G
c.1218C>G (p.Phe406Leu)
c.708C>G (p.Phe236Leu)
c.*1164C>G (n.*1164C>G)
c.2562C>G (p.Phe854Leu)
c.2544C>G (p.Phe848Leu)
 gnomAD v4
22g.50720398C>TCA515259153SHANK3c.2166C>T (p.Phe722=)
n.2750C>T
c.1218C>T (p.Phe406=)
c.708C>T (p.Phe236=)
c.*1164C>T (n.*1164C>T)
c.2562C>T (p.Phe854=)
c.2544C>T (p.Phe848=)
 ClinVar gnomAD v4
22g.50720399A>CCA515259154SHANK3c.2167A>C (p.Lys723Gln)
n.2751A>C
c.1219A>C (p.Lys407Gln)
c.709A>C (p.Lys237Gln)
c.*1165A>C (n.*1165A>C)
c.2563A>C (p.Lys855Gln)
c.2545A>C (p.Lys849Gln)
 dbSNP
22g.50720399A>GCA515259155SHANK3c.2167A>G (p.Lys723Glu)
n.2751A>G
c.1219A>G (p.Lys407Glu)
c.709A>G (p.Lys237Glu)
c.*1165A>G (n.*1165A>G)
c.2563A>G (p.Lys855Glu)
c.2545A>G (p.Lys849Glu)
 gnomAD v4
22g.50720399A>TCA515259156SHANK3c.2167A>T (p.Lys723Ter)
n.2751A>T
c.1219A>T (p.Lys407Ter)
c.709A>T (p.Lys237Ter)
c.*1165A>T (n.*1165A>T)
c.2563A>T (p.Lys855Ter)
c.2545A>T (p.Lys849Ter)
 gnomAD v4
22g.50720400A=CA2411007598SHANK3c.2168A= (p.Lys723=)
n.2752A=
c.1220A= (p.Lys407=)
c.710A= (p.Lys237=)
c.*1166A= (n.*1166A=)
c.2564A= (p.Lys855=)
c.2546A= (p.Lys849=)
22g.50720400A>CCA515259157SHANK3c.2168A>C (p.Lys723Thr)
n.2752A>C
c.1220A>C (p.Lys407Thr)
c.710A>C (p.Lys237Thr)
c.*1166A>C (n.*1166A>C)
c.2564A>C (p.Lys855Thr)
c.2546A>C (p.Lys849Thr)
 gnomAD v4
22g.50720400A>GCA515259159SHANK3c.2168A>G (p.Lys723Arg)
n.2752A>G
c.1220A>G (p.Lys407Arg)
c.710A>G (p.Lys237Arg)
c.*1166A>G (n.*1166A>G)
c.2564A>G (p.Lys855Arg)
c.2546A>G (p.Lys849Arg)
 dbSNP gnomAD v3 gnomAD v4
22g.50720400A>TCA515259158SHANK3c.2168A>T (p.Lys723Met)
n.2752A>T
c.1220A>T (p.Lys407Met)
c.710A>T (p.Lys237Met)
c.*1166A>T (n.*1166A>T)
c.2564A>T (p.Lys855Met)
c.2546A>T (p.Lys849Met)
 gnomAD v4
22g.50720401G>ACA515259160SHANK3c.2169G>A (p.Lys723=)
n.2753G>A
c.1221G>A (p.Lys407=)
c.711G>A (p.Lys237=)
c.*1167G>A (n.*1167G>A)
c.2565G>A (p.Lys855=)
c.2547G>A (p.Lys849=)
 gnomAD v4
22g.50720401G>CCA515259161SHANK3c.2169G>C (p.Lys723Asn)
n.2753G>C
c.1221G>C (p.Lys407Asn)
c.711G>C (p.Lys237Asn)
c.*1167G>C (n.*1167G>C)
c.2565G>C (p.Lys855Asn)
c.2547G>C (p.Lys849Asn)
22g.50720401G=CA2411007599SHANK3c.2169G= (p.Lys723=)
n.2753G=
c.1221G= (p.Lys407=)
c.711G= (p.Lys237=)
c.*1167G= (n.*1167G=)
c.2565G= (p.Lys855=)
c.2547G= (p.Lys849=)
22g.50720401G>TCA515259162SHANK3c.2169G>T (p.Lys723Asn)
n.2753G>T
c.1221G>T (p.Lys407Asn)
c.711G>T (p.Lys237Asn)
c.*1167G>T (n.*1167G>T)
c.2565G>T (p.Lys855Asn)
c.2547G>T (p.Lys849Asn)
 dbSNP gnomAD v4
22g.50720402C>ACA515259163SHANK3c.2170C>A (p.Pro724Thr)
n.2754C>A
c.1222C>A (p.Pro408Thr)
c.712C>A (p.Pro238Thr)
c.*1168C>A (n.*1168C>A)
c.2566C>A (p.Pro856Thr)
c.2548C>A (p.Pro850Thr)
 gnomAD v4
22g.50720402C>GCA515259164SHANK3c.2170C>G (p.Pro724Ala)
n.2754C>G
c.1222C>G (p.Pro408Ala)
c.712C>G (p.Pro238Ala)
c.*1168C>G (n.*1168C>G)
c.2566C>G (p.Pro856Ala)
c.2548C>G (p.Pro850Ala)
22g.50720402C>TCA515259165SHANK3c.2170C>T (p.Pro724Ser)
n.2754C>T
c.1222C>T (p.Pro408Ser)
c.712C>T (p.Pro238Ser)
c.*1168C>T (n.*1168C>T)
c.2566C>T (p.Pro856Ser)
c.2548C>T (p.Pro850Ser)
 gnomAD v4
22g.50720404delCA2657583119SHANK3c.2172del (p.Gly725AlafsTer?)
n.2756del
c.1224del (p.Gly409AlafsTer?)
c.714del (p.Gly239AlafsTer?)
c.*1170del (n.*1170del)
c.2568del (p.Gly857AlafsTer?)
c.2550del (p.Gly851AlafsTer?)
 gnomAD v4
22g.50720403C>ACA515259166SHANK3c.2171C>A (p.Pro724His)
n.2755C>A
c.1223C>A (p.Pro408His)
c.713C>A (p.Pro238His)
c.*1169C>A (n.*1169C>A)
c.2567C>A (p.Pro856His)
c.2549C>A (p.Pro850His)
 gnomAD v4
22g.50720403C=CA2411007600SHANK3c.2171C= (p.Pro724=)
n.2755C=
c.1223C= (p.Pro408=)
c.713C= (p.Pro238=)
c.*1169C= (n.*1169C=)
c.2567C= (p.Pro856=)
c.2549C= (p.Pro850=)
22g.50720403C>GCA515259167SHANK3c.2171C>G (p.Pro724Arg)
n.2755C>G
c.1223C>G (p.Pro408Arg)
c.713C>G (p.Pro238Arg)
c.*1169C>G (n.*1169C>G)
c.2567C>G (p.Pro856Arg)
c.2549C>G (p.Pro850Arg)
 dbSNP
22g.50720403C>TCA515259168SHANK3c.2171C>T (p.Pro724Leu)
n.2755C>T
c.1223C>T (p.Pro408Leu)
c.713C>T (p.Pro238Leu)
c.*1169C>T (n.*1169C>T)
c.2567C>T (p.Pro856Leu)
c.2549C>T (p.Pro850Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.50720404C>ACA515259171SHANK3c.2172C>A (p.Pro724=)
n.2756C>A
c.1224C>A (p.Pro408=)
c.714C>A (p.Pro238=)
c.*1170C>A (n.*1170C>A)
c.2568C>A (p.Pro856=)
c.2550C>A (p.Pro850=)
 gnomAD v4
22g.50720404C>GCA515259170SHANK3c.2172C>G (p.Pro724=)
n.2756C>G
c.1224C>G (p.Pro408=)
c.714C>G (p.Pro238=)
c.*1170C>G (n.*1170C>G)
c.2568C>G (p.Pro856=)
c.2550C>G (p.Pro850=)
 gnomAD v4
22g.50720404C>TCA515259169SHANK3c.2172C>T (p.Pro724=)
n.2756C>T
c.1224C>T (p.Pro408=)
c.714C>T (p.Pro238=)
c.*1170C>T (n.*1170C>T)
c.2568C>T (p.Pro856=)
c.2550C>T (p.Pro850=)
 gnomAD v4
22g.50720405G>ACA515259172SHANK3c.2173G>A (p.Gly725Ser)
n.2757G>A
c.1225G>A (p.Gly409Ser)
c.715G>A (p.Gly239Ser)
c.*1171G>A (n.*1171G>A)
c.2569G>A (p.Gly857Ser)
c.2551G>A (p.Gly851Ser)
 dbSNP gnomAD v4
22g.50720405G>CCA515259173SHANK3c.2173G>C (p.Gly725Arg)
n.2757G>C
c.1225G>C (p.Gly409Arg)
c.715G>C (p.Gly239Arg)
c.*1171G>C (n.*1171G>C)
c.2569G>C (p.Gly857Arg)
c.2551G>C (p.Gly851Arg)
 gnomAD v4
22g.50720405G=CA2411007601SHANK3c.2173G= (p.Gly725=)
n.2757G=
c.1225G= (p.Gly409=)
c.715G= (p.Gly239=)
c.*1171G= (n.*1171G=)
c.2569G= (p.Gly857=)
c.2551G= (p.Gly851=)
22g.50720405G>TCA515259174SHANK3c.2173G>T (p.Gly725Cys)
n.2757G>T
c.1225G>T (p.Gly409Cys)
c.715G>T (p.Gly239Cys)
c.*1171G>T (n.*1171G>T)
c.2569G>T (p.Gly857Cys)
c.2551G>T (p.Gly851Cys)
 gnomAD v4
22g.50720405_50720406delCA2657583122SHANK3c.2173_2174del (p.Gly725ProfsTer?)
n.2757_2758del
c.1225_1226del (p.Gly409ProfsTer?)
c.715_716del (p.Gly239ProfsTer?)
c.*1171_*1172del (n.*1171_*1172del)
c.2569_2570del (p.Gly857ProfsTer?)
c.2551_2552del (p.Gly851ProfsTer?)
 gnomAD v4
22g.50720406G>ACA515259175SHANK3c.2174G>A (p.Gly725Asp)
n.2758G>A
c.1226G>A (p.Gly409Asp)
c.716G>A (p.Gly239Asp)
c.*1172G>A (n.*1172G>A)
c.2570G>A (p.Gly857Asp)
c.2552G>A (p.Gly851Asp)
 gnomAD v4
22g.50720406G>CCA515259176SHANK3c.2174G>C (p.Gly725Ala)
n.2758G>C
c.1226G>C (p.Gly409Ala)
c.716G>C (p.Gly239Ala)
c.*1172G>C (n.*1172G>C)
c.2570G>C (p.Gly857Ala)
c.2552G>C (p.Gly851Ala)
 gnomAD v4
22g.50720406G>TCA515259177SHANK3c.2174G>T (p.Gly725Val)
n.2758G>T
c.1226G>T (p.Gly409Val)
c.716G>T (p.Gly239Val)
c.*1172G>T (n.*1172G>T)
c.2570G>T (p.Gly857Val)
c.2552G>T (p.Gly851Val)
 gnomAD v4
22g.50720407C>ACA515259178SHANK3c.2175C>A (p.Gly725=)
n.2759C>A
c.1227C>A (p.Gly409=)
c.717C>A (p.Gly239=)
c.*1173C>A (n.*1173C>A)
c.2571C>A (p.Gly857=)
c.2553C>A (p.Gly851=)
 gnomAD v4
22g.50720407C=CA2411007602SHANK3c.2175C= (p.Gly725=)
n.2759C=
c.1227C= (p.Gly409=)
c.717C= (p.Gly239=)
c.*1173C= (n.*1173C=)
c.2571C= (p.Gly857=)
c.2553C= (p.Gly851=)
22g.50720407C>GCA515259179SHANK3c.2175C>G (p.Gly725=)
n.2759C>G
c.1227C>G (p.Gly409=)
c.717C>G (p.Gly239=)
c.*1173C>G (n.*1173C>G)
c.2571C>G (p.Gly857=)
c.2553C>G (p.Gly851=)
 gnomAD v4
22g.50720407C>TCA325578069SHANK3c.2175C>T (p.Gly725=)
n.2759C>T
c.1227C>T (p.Gly409=)
c.717C>T (p.Gly239=)
c.*1173C>T (n.*1173C>T)
c.2571C>T (p.Gly857=)
c.2553C>T (p.Gly851=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720408delCA2819315468SHANK3c.2176del (p.Leu726TrpfsTer?)
n.2760del
c.1228del (p.Leu410TrpfsTer?)
c.718del (p.Leu240TrpfsTer?)
c.*1174del (n.*1174del)
c.2572del (p.Leu858TrpfsTer?)
c.2554del (p.Leu852TrpfsTer?)
22g.50720408C>ACA515259180SHANK3c.2176C>A (p.Leu726Met)
n.2760C>A
c.1228C>A (p.Leu410Met)
c.718C>A (p.Leu240Met)
c.*1174C>A (n.*1174C>A)
c.2572C>A (p.Leu858Met)
c.2554C>A (p.Leu852Met)
 gnomAD v4
22g.50720408C=CA2411007603SHANK3c.2176C= (p.Leu726=)
n.2760C=
c.1228C= (p.Leu410=)
c.718C= (p.Leu240=)
c.*1174C= (n.*1174C=)
c.2572C= (p.Leu858=)
c.2554C= (p.Leu852=)
22g.50720408C>GCA515259181SHANK3c.2176C>G (p.Leu726Val)
n.2760C>G
c.1228C>G (p.Leu410Val)
c.718C>G (p.Leu240Val)
c.*1174C>G (n.*1174C>G)
c.2572C>G (p.Leu858Val)
c.2554C>G (p.Leu852Val)
 gnomAD v4
22g.50720408C>TCA515259182SHANK3c.2176C>T (p.Leu726=)
n.2760C>T
c.1228C>T (p.Leu410=)
c.718C>T (p.Leu240=)
c.*1174C>T (n.*1174C>T)
c.2572C>T (p.Leu858=)
c.2554C>T (p.Leu852=)
 dbSNP gnomAD v4

Number of alleles fetched