Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50720256G>ACA515258712SHANK3c.2024G>A (p.Arg675His)
n.2608G>A
c.1076G>A (p.Arg359His)
c.566G>A (p.Arg189His)
c.*1022G>A (n.*1022G>A)
c.2420G>A (p.Arg807His)
c.2402G>A (p.Arg801His)
 gnomAD v4
22g.50720256G>CCA515258711SHANK3c.2024G>C (p.Arg675Pro)
n.2608G>C
c.1076G>C (p.Arg359Pro)
c.566G>C (p.Arg189Pro)
c.*1022G>C (n.*1022G>C)
c.2420G>C (p.Arg807Pro)
c.2402G>C (p.Arg801Pro)
 ClinVar dbSNP
22g.50720256G=CA2411007522SHANK3c.2024G= (p.Arg675=)
n.2608G=
c.1076G= (p.Arg359=)
c.566G= (p.Arg189=)
c.*1022G= (n.*1022G=)
c.2420G= (p.Arg807=)
c.2402G= (p.Arg801=)
22g.50720256G>TCA515258710SHANK3c.2024G>T (p.Arg675Leu)
n.2608G>T
c.1076G>T (p.Arg359Leu)
c.566G>T (p.Arg189Leu)
c.*1022G>T (n.*1022G>T)
c.2420G>T (p.Arg807Leu)
c.2402G>T (p.Arg801Leu)
 gnomAD v4
22g.50720257C>ACA515258713SHANK3c.2025C>A (p.Arg675=)
n.2609C>A
c.1077C>A (p.Arg359=)
c.567C>A (p.Arg189=)
c.*1023C>A (n.*1023C>A)
c.2421C>A (p.Arg807=)
c.2403C>A (p.Arg801=)
 gnomAD v4
22g.50720257C=CA2411007523SHANK3c.2025C= (p.Arg675=)
n.2609C=
c.1077C= (p.Arg359=)
c.567C= (p.Arg189=)
c.*1023C= (n.*1023C=)
c.2421C= (p.Arg807=)
c.2403C= (p.Arg801=)
22g.50720257C>GCA515258714SHANK3c.2025C>G (p.Arg675=)
n.2609C>G
c.1077C>G (p.Arg359=)
c.567C>G (p.Arg189=)
c.*1023C>G (n.*1023C>G)
c.2421C>G (p.Arg807=)
c.2403C>G (p.Arg801=)
22g.50720257C>TCA515258715SHANK3c.2025C>T (p.Arg675=)
n.2609C>T
c.1077C>T (p.Arg359=)
c.567C>T (p.Arg189=)
c.*1023C>T (n.*1023C>T)
c.2421C>T (p.Arg807=)
c.2403C>T (p.Arg801=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720258G>ACA515258716SHANK3c.2026G>A (p.Glu676Lys)
n.2610G>A
c.1078G>A (p.Glu360Lys)
c.568G>A (p.Glu190Lys)
c.*1024G>A (n.*1024G>A)
c.2422G>A (p.Glu808Lys)
c.2404G>A (p.Glu802Lys)
 dbSNP
22g.50720258G>CCA515258717SHANK3c.2026G>C (p.Glu676Gln)
n.2610G>C
c.1078G>C (p.Glu360Gln)
c.568G>C (p.Glu190Gln)
c.*1024G>C (n.*1024G>C)
c.2422G>C (p.Glu808Gln)
c.2404G>C (p.Glu802Gln)
22g.50720258G>TCA515258718SHANK3c.2026G>T (p.Glu676Ter)
n.2610G>T
c.1078G>T (p.Glu360Ter)
c.568G>T (p.Glu190Ter)
c.*1024G>T (n.*1024G>T)
c.2422G>T (p.Glu808Ter)
c.2404G>T (p.Glu802Ter)
 gnomAD v4
22g.50720258_50720268delCA2657582724SHANK3c.2026_2036del (p.Glu676HisfsTer?)
n.2610_2620del
c.1078_1088del (p.Glu360HisfsTer?)
c.568_578del (p.Glu190HisfsTer?)
c.*1024_*1034del (n.*1024_*1034del)
c.2422_2432del (p.Glu808HisfsTer?)
c.2404_2414del (p.Glu802HisfsTer?)
 gnomAD v4
22g.50720259A>CCA515258721SHANK3c.2027A>C (p.Glu676Ala)
n.2611A>C
c.1079A>C (p.Glu360Ala)
c.569A>C (p.Glu190Ala)
c.*1025A>C (n.*1025A>C)
c.2423A>C (p.Glu808Ala)
c.2405A>C (p.Glu802Ala)
22g.50720259A>GCA515258724SHANK3c.2027A>G (p.Glu676Gly)
n.2611A>G
c.1079A>G (p.Glu360Gly)
c.569A>G (p.Glu190Gly)
c.*1025A>G (n.*1025A>G)
c.2423A>G (p.Glu808Gly)
c.2405A>G (p.Glu802Gly)
 gnomAD v4
22g.50720259A>TCA515258726SHANK3c.2027A>T (p.Glu676Val)
n.2611A>T
c.1079A>T (p.Glu360Val)
c.569A>T (p.Glu190Val)
c.*1025A>T (n.*1025A>T)
c.2423A>T (p.Glu808Val)
c.2405A>T (p.Glu802Val)
22g.50720260G>ACA515258728SHANK3c.2028G>A (p.Glu676=)
n.2612G>A
c.1080G>A (p.Glu360=)
c.570G>A (p.Glu190=)
c.*1026G>A (n.*1026G>A)
c.2424G>A (p.Glu808=)
c.2406G>A (p.Glu802=)
 gnomAD v4
22g.50720260G>CCA515258729SHANK3c.2028G>C (p.Glu676Asp)
n.2612G>C
c.1080G>C (p.Glu360Asp)
c.570G>C (p.Glu190Asp)
c.*1026G>C (n.*1026G>C)
c.2424G>C (p.Glu808Asp)
c.2406G>C (p.Glu802Asp)
 ClinVar gnomAD v4
22g.50720260G>TCA515258730SHANK3c.2028G>T (p.Glu676Asp)
n.2612G>T
c.1080G>T (p.Glu360Asp)
c.570G>T (p.Glu190Asp)
c.*1026G>T (n.*1026G>T)
c.2424G>T (p.Glu808Asp)
c.2406G>T (p.Glu802Asp)
 gnomAD v4
22g.50720262delCA2657582733SHANK3c.2030del (p.Gly677ValfsTer?)
n.2614del
c.1082del (p.Gly361ValfsTer?)
c.572del (p.Gly191ValfsTer?)
c.*1028del (n.*1028del)
c.2426del (p.Gly809ValfsTer?)
c.2408del (p.Gly803ValfsTer?)
 gnomAD v4
22g.50720261G>ACA515258734SHANK3c.2029G>A (p.Gly677Ser)
n.2613G>A
c.1081G>A (p.Gly361Ser)
c.571G>A (p.Gly191Ser)
c.*1027G>A (n.*1027G>A)
c.2425G>A (p.Gly809Ser)
c.2407G>A (p.Gly803Ser)
 dbSNP gnomAD v3 gnomAD v4
22g.50720261G>CCA515258731SHANK3c.2029G>C (p.Gly677Arg)
n.2613G>C
c.1081G>C (p.Gly361Arg)
c.571G>C (p.Gly191Arg)
c.*1027G>C (n.*1027G>C)
c.2425G>C (p.Gly809Arg)
c.2407G>C (p.Gly803Arg)
22g.50720261G=CA2411007524SHANK3c.2029G= (p.Gly677=)
n.2613G=
c.1081G= (p.Gly361=)
c.571G= (p.Gly191=)
c.*1027G= (n.*1027G=)
c.2425G= (p.Gly809=)
c.2407G= (p.Gly803=)
22g.50720261G>TCA515258732SHANK3c.2029G>T (p.Gly677Cys)
n.2613G>T
c.1081G>T (p.Gly361Cys)
c.571G>T (p.Gly191Cys)
c.*1027G>T (n.*1027G>T)
c.2425G>T (p.Gly809Cys)
c.2407G>T (p.Gly803Cys)
 dbSNP gnomAD v4
22g.50720262G>ACA515258735SHANK3c.2030G>A (p.Gly677Asp)
n.2614G>A
c.1082G>A (p.Gly361Asp)
c.572G>A (p.Gly191Asp)
c.*1028G>A (n.*1028G>A)
c.2426G>A (p.Gly809Asp)
c.2408G>A (p.Gly803Asp)
 gnomAD v4
22g.50720262G>CCA515258736SHANK3c.2030G>C (p.Gly677Ala)
n.2614G>C
c.1082G>C (p.Gly361Ala)
c.572G>C (p.Gly191Ala)
c.*1028G>C (n.*1028G>C)
c.2426G>C (p.Gly809Ala)
c.2408G>C (p.Gly803Ala)
22g.50720262G>TCA515258737SHANK3c.2030G>T (p.Gly677Val)
n.2614G>T
c.1082G>T (p.Gly361Val)
c.572G>T (p.Gly191Val)
c.*1028G>T (n.*1028G>T)
c.2426G>T (p.Gly809Val)
c.2408G>T (p.Gly803Val)
22g.50720263T>ACA515258738SHANK3c.2031T>A (p.Gly677=)
n.2615T>A
c.1083T>A (p.Gly361=)
c.573T>A (p.Gly191=)
c.*1029T>A (n.*1029T>A)
c.2427T>A (p.Gly809=)
c.2409T>A (p.Gly803=)
 gnomAD v4
22g.50720263T>CCA515258739SHANK3c.2031T>C (p.Gly677=)
n.2615T>C
c.1083T>C (p.Gly361=)
c.573T>C (p.Gly191=)
c.*1029T>C (n.*1029T>C)
c.2427T>C (p.Gly809=)
c.2409T>C (p.Gly803=)
 gnomAD v4
22g.50720263T>GCA515258740SHANK3c.2031T>G (p.Gly677=)
n.2615T>G
c.1083T>G (p.Gly361=)
c.573T>G (p.Gly191=)
c.*1029T>G (n.*1029T>G)
c.2427T>G (p.Gly809=)
c.2409T>G (p.Gly803=)
22g.50720264C>ACA515258741SHANK3c.2032C>A (p.Arg678Ser)
n.2616C>A
c.1084C>A (p.Arg362Ser)
c.574C>A (p.Arg192Ser)
c.*1030C>A (n.*1030C>A)
c.2428C>A (p.Arg810Ser)
c.2410C>A (p.Arg804Ser)
 gnomAD v4
22g.50720264C=CA2411007525SHANK3c.2032C= (p.Arg678=)
n.2616C=
c.1084C= (p.Arg362=)
c.574C= (p.Arg192=)
c.*1030C= (n.*1030C=)
c.2428C= (p.Arg810=)
c.2410C= (p.Arg804=)
22g.50720264C>GCA325577994SHANK3c.2032C>G (p.Arg678Gly)
n.2616C>G
c.1084C>G (p.Arg362Gly)
c.574C>G (p.Arg192Gly)
c.*1030C>G (n.*1030C>G)
c.2428C>G (p.Arg810Gly)
c.2410C>G (p.Arg804Gly)
 dbSNP gnomAD v3 gnomAD v4
22g.50720264C>TCA515258742SHANK3c.2032C>T (p.Arg678Cys)
n.2616C>T
c.1084C>T (p.Arg362Cys)
c.574C>T (p.Arg192Cys)
c.*1030C>T (n.*1030C>T)
c.2428C>T (p.Arg810Cys)
c.2410C>T (p.Arg804Cys)
 dbSNP gnomAD v2 gnomAD v4
22g.50720265G>ACA515258743SHANK3c.2033G>A (p.Arg678His)
n.2617G>A
c.1085G>A (p.Arg362His)
c.575G>A (p.Arg192His)
c.*1031G>A (n.*1031G>A)
c.2429G>A (p.Arg810His)
c.2411G>A (p.Arg804His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720265G>CCA515258744SHANK3c.2033G>C (p.Arg678Pro)
n.2617G>C
c.1085G>C (p.Arg362Pro)
c.575G>C (p.Arg192Pro)
c.*1031G>C (n.*1031G>C)
c.2429G>C (p.Arg810Pro)
c.2411G>C (p.Arg804Pro)
22g.50720265G=CA2411007526SHANK3c.2033G= (p.Arg678=)
n.2617G=
c.1085G= (p.Arg362=)
c.575G= (p.Arg192=)
c.*1031G= (n.*1031G=)
c.2429G= (p.Arg810=)
c.2411G= (p.Arg804=)
22g.50720265G>TCA515258745SHANK3c.2033G>T (p.Arg678Leu)
n.2617G>T
c.1085G>T (p.Arg362Leu)
c.575G>T (p.Arg192Leu)
c.*1031G>T (n.*1031G>T)
c.2429G>T (p.Arg810Leu)
c.2411G>T (p.Arg804Leu)
 gnomAD v4
22g.50720266C>ACA515258747SHANK3c.2034C>A (p.Arg678=)
n.2618C>A
c.1086C>A (p.Arg362=)
c.576C>A (p.Arg192=)
c.*1032C>A (n.*1032C>A)
c.2430C>A (p.Arg810=)
c.2412C>A (p.Arg804=)
 gnomAD v4
22g.50720266C=CA2411007527SHANK3c.2034C= (p.Arg678=)
n.2618C=
c.1086C= (p.Arg362=)
c.576C= (p.Arg192=)
c.*1032C= (n.*1032C=)
c.2430C= (p.Arg810=)
c.2412C= (p.Arg804=)
22g.50720266C>GCA515258749SHANK3c.2034C>G (p.Arg678=)
n.2618C>G
c.1086C>G (p.Arg362=)
c.576C>G (p.Arg192=)
c.*1032C>G (n.*1032C>G)
c.2430C>G (p.Arg810=)
c.2412C>G (p.Arg804=)
 gnomAD v4
22g.50720266C>TCA515258746SHANK3c.2034C>T (p.Arg678=)
n.2618C>T
c.1086C>T (p.Arg362=)
c.576C>T (p.Arg192=)
c.*1032C>T (n.*1032C>T)
c.2430C>T (p.Arg810=)
c.2412C>T (p.Arg804=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720267G>ACA515258750SHANK3c.2035G>A (p.Gly679Ser)
n.2619G>A
c.1087G>A (p.Gly363Ser)
c.577G>A (p.Gly193Ser)
c.*1033G>A (n.*1033G>A)
c.2431G>A (p.Gly811Ser)
c.2413G>A (p.Gly805Ser)
 dbSNP gnomAD v2 gnomAD v4
22g.50720267G>CCA515258752SHANK3c.2035G>C (p.Gly679Arg)
n.2619G>C
c.1087G>C (p.Gly363Arg)
c.577G>C (p.Gly193Arg)
c.*1033G>C (n.*1033G>C)
c.2431G>C (p.Gly811Arg)
c.2413G>C (p.Gly805Arg)
 dbSNP
22g.50720267G=CA2411007528SHANK3c.2035G= (p.Gly679=)
n.2619G=
c.1087G= (p.Gly363=)
c.577G= (p.Gly193=)
c.*1033G= (n.*1033G=)
c.2431G= (p.Gly811=)
c.2413G= (p.Gly805=)
22g.50720267G>TCA515258753SHANK3c.2035G>T (p.Gly679Cys)
n.2619G>T
c.1087G>T (p.Gly363Cys)
c.577G>T (p.Gly193Cys)
c.*1033G>T (n.*1033G>T)
c.2431G>T (p.Gly811Cys)
c.2413G>T (p.Gly805Cys)
 gnomAD v4
22g.50720268G>ACA515258754SHANK3c.2036G>A (p.Gly679Asp)
n.2620G>A
c.1088G>A (p.Gly363Asp)
c.578G>A (p.Gly193Asp)
c.*1034G>A (n.*1034G>A)
c.2432G>A (p.Gly811Asp)
c.2414G>A (p.Gly805Asp)
 gnomAD v4
22g.50720268G>CCA515258755SHANK3c.2036G>C (p.Gly679Ala)
n.2620G>C
c.1088G>C (p.Gly363Ala)
c.578G>C (p.Gly193Ala)
c.*1034G>C (n.*1034G>C)
c.2432G>C (p.Gly811Ala)
c.2414G>C (p.Gly805Ala)
 dbSNP gnomAD v3 gnomAD v4
22g.50720268G=CA2411007529SHANK3c.2036G= (p.Gly679=)
n.2620G=
c.1088G= (p.Gly363=)
c.578G= (p.Gly193=)
c.*1034G= (n.*1034G=)
c.2432G= (p.Gly811=)
c.2414G= (p.Gly805=)
22g.50720268G>TCA515258756SHANK3c.2036G>T (p.Gly679Val)
n.2620G>T
c.1088G>T (p.Gly363Val)
c.578G>T (p.Gly193Val)
c.*1034G>T (n.*1034G>T)
c.2432G>T (p.Gly811Val)
c.2414G>T (p.Gly805Val)
 dbSNP gnomAD v3 gnomAD v4
22g.50720269C>ACA515258759SHANK3c.2037C>A (p.Gly679=)
n.2621C>A
c.1089C>A (p.Gly363=)
c.579C>A (p.Gly193=)
c.*1035C>A (n.*1035C>A)
c.2433C>A (p.Gly811=)
c.2415C>A (p.Gly805=)
 dbSNP gnomAD v4
22g.50720269C>GCA515258757SHANK3c.2037C>G (p.Gly679=)
n.2621C>G
c.1089C>G (p.Gly363=)
c.579C>G (p.Gly193=)
c.*1035C>G (n.*1035C>G)
c.2433C>G (p.Gly811=)
c.2415C>G (p.Gly805=)
22g.50720269C>TCA515258758SHANK3c.2037C>T (p.Gly679=)
n.2621C>T
c.1089C>T (p.Gly363=)
c.579C>T (p.Gly193=)
c.*1035C>T (n.*1035C>T)
c.2433C>T (p.Gly811=)
c.2415C>T (p.Gly805=)
 gnomAD v4
22g.50720270A>CCA515258760SHANK3c.2038A>C (p.Ile680Leu)
n.2622A>C
c.1090A>C (p.Ile364Leu)
c.580A>C (p.Ile194Leu)
c.*1036A>C (n.*1036A>C)
c.2434A>C (p.Ile812Leu)
c.2416A>C (p.Ile806Leu)
 gnomAD v4
22g.50720270A>GCA515258761SHANK3c.2038A>G (p.Ile680Val)
n.2622A>G
c.1090A>G (p.Ile364Val)
c.580A>G (p.Ile194Val)
c.*1036A>G (n.*1036A>G)
c.2434A>G (p.Ile812Val)
c.2416A>G (p.Ile806Val)
 gnomAD v4
22g.50720270A>TCA515258762SHANK3c.2038A>T (p.Ile680Phe)
n.2622A>T
c.1090A>T (p.Ile364Phe)
c.580A>T (p.Ile194Phe)
c.*1036A>T (n.*1036A>T)
c.2434A>T (p.Ile812Phe)
c.2416A>T (p.Ile806Phe)
22g.50720271T>ACA515258763SHANK3c.2039T>A (p.Ile680Asn)
n.2623T>A
c.1091T>A (p.Ile364Asn)
c.581T>A (p.Ile194Asn)
c.*1037T>A (n.*1037T>A)
c.2435T>A (p.Ile812Asn)
c.2417T>A (p.Ile806Asn)
22g.50720271T>CCA325578001SHANK3c.2039T>C (p.Ile680Thr)
n.2623T>C
c.1091T>C (p.Ile364Thr)
c.581T>C (p.Ile194Thr)
c.*1037T>C (n.*1037T>C)
c.2435T>C (p.Ile812Thr)
c.2417T>C (p.Ile806Thr)
 dbSNP gnomAD v4
22g.50720271T>GCA515258765SHANK3c.2039T>G (p.Ile680Ser)
n.2623T>G
c.1091T>G (p.Ile364Ser)
c.581T>G (p.Ile194Ser)
c.*1037T>G (n.*1037T>G)
c.2435T>G (p.Ile812Ser)
c.2417T>G (p.Ile806Ser)
22g.50720271T=CA2411007530SHANK3c.2039T= (p.Ile680=)
n.2623T=
c.1091T= (p.Ile364=)
c.581T= (p.Ile194=)
c.*1037T= (n.*1037T=)
c.2435T= (p.Ile812=)
c.2417T= (p.Ile806=)
22g.50720271_50720272insGCA2738228115SHANK3c.2039_2040insG (p.Ile680MetfsTer?)
n.2623_2624insG
c.1091_1092insG (p.Ile364MetfsTer?)
c.581_582insG (p.Ile194MetfsTer?)
c.*1037_*1038insG (n.*1037_*1038insG)
c.2435_2436insG (p.Ile812MetfsTer?)
c.2417_2418insG (p.Ile806MetfsTer?)
 dbSNP
22g.50720271_50720272insACCA2738228131SHANK3c.2039_2040insAC (p.Pro682ArgfsTer?)
n.2623_2624insAC
c.1091_1092insAC (p.Pro366ArgfsTer?)
c.581_582insAC (p.Pro196ArgfsTer?)
c.*1037_*1038insAC (n.*1037_*1038insAC)
c.2435_2436insAC (p.Pro814ArgfsTer?)
c.2417_2418insAC (p.Pro808ArgfsTer?)
 dbSNP
22g.50720271_50720272insGCCA2497030043SHANK3c.2039_2040insGC (p.Ile680MetfsTer?)
n.2623_2624insGC
c.1091_1092insGC (p.Ile364MetfsTer?)
c.581_582insGC (p.Ile194MetfsTer?)
c.*1037_*1038insGC (n.*1037_*1038insGC)
c.2435_2436insGC (p.Ile812MetfsTer?)
c.2417_2418insGC (p.Ile806MetfsTer?)
 dbSNP
22g.50720271_50720272insGCCCA2499306964SHANK3c.2039_2040insGCC (p.Ile680delinsMetPro)
n.2623_2624insGCC
c.1091_1092insGCC (p.Ile364delinsMetPro)
c.581_582insGCC (p.Ile194delinsMetPro)
c.*1037_*1038insGCC (n.*1037_*1038insGCC)
c.2435_2436insGCC (p.Ile812delinsMetPro)
c.2417_2418insGCC (p.Ile806delinsMetPro)
 dbSNP
22g.50720271_50720272insGCCCCA2738228082SHANK3c.2039_2040insGCCC (p.Ile680MetfsTer?)
n.2623_2624insGCCC
c.1091_1092insGCCC (p.Ile364MetfsTer?)
c.581_582insGCCC (p.Ile194MetfsTer?)
c.*1037_*1038insGCCC (n.*1037_*1038insGCCC)
c.2435_2436insGCCC (p.Ile812MetfsTer?)
c.2417_2418insGCCC (p.Ile806MetfsTer?)
 dbSNP
22g.50720271_50720272insGCCCCCA923726295SHANK3c.2039_2040insGCCCC (p.Ile680MetfsTer?)
n.2623_2624insGCCCC
c.1091_1092insGCCCC (p.Ile364MetfsTer?)
c.581_582insGCCCC (p.Ile194MetfsTer?)
c.*1037_*1038insGCCCC (n.*1037_*1038insGCCCC)
c.2435_2436insGCCCC (p.Ile812MetfsTer?)
c.2417_2418insGCCCC (p.Ile806MetfsTer?)
22g.50720271_50720272insGCCCCCCA2573320248SHANK3c.2039_2040insGCCCCC (p.Ile680delinsMetProPro)
n.2623_2624insGCCCCC
c.1091_1092insGCCCCC (p.Ile364delinsMetProPro)
c.581_582insGCCCCC (p.Ile194delinsMetProPro)
c.*1037_*1038insGCCCCC (n.*1037_*1038insGCCCCC)
c.2435_2436insGCCCCC (p.Ile812delinsMetProPro)
c.2417_2418insGCCCCC (p.Ile806delinsMetProPro)
22g.50720272C>ACA515258766SHANK3c.2040C>A (p.Ile680=)
n.2624C>A
c.1092C>A (p.Ile364=)
c.582C>A (p.Ile194=)
c.*1038C>A (n.*1038C>A)
c.2436C>A (p.Ile812=)
c.2418C>A (p.Ile806=)
 dbSNP gnomAD v4
22g.50720272C=CA2411007531SHANK3c.2040C= (p.Ile680=)
n.2624C=
c.1092C= (p.Ile364=)
c.582C= (p.Ile194=)
c.*1038C= (n.*1038C=)
c.2436C= (p.Ile812=)
c.2418C= (p.Ile806=)
22g.50720272C>GCA515258768SHANK3c.2040C>G (p.Ile680Met)
n.2624C>G
c.1092C>G (p.Ile364Met)
c.582C>G (p.Ile194Met)
c.*1038C>G (n.*1038C>G)
c.2436C>G (p.Ile812Met)
c.2418C>G (p.Ile806Met)
 ClinVar dbSNP gnomAD v4
22g.50720272C>TCA515258767SHANK3c.2040C>T (p.Ile680=)
n.2624C>T
c.1092C>T (p.Ile364=)
c.582C>T (p.Ile194=)
c.*1038C>T (n.*1038C>T)
c.2436C>T (p.Ile812=)
c.2418C>T (p.Ile806=)
 gnomAD v4
22g.50720272_50720274delCA2573105958SHANK3c.2040_2042del (p.Ile680_Pro681delinsMet)
n.2624_2626del
c.1092_1094del (p.Ile364_Pro365delinsMet)
c.582_584del (p.Ile194_Pro195delinsMet)
c.*1038_*1040del (n.*1038_*1040del)
c.2436_2438del (p.Ile812_Pro813delinsMet)
c.2418_2420del (p.Ile806_Pro807delinsMet)
 dbSNP
22g.50720273_50720274dupCA2819315339SHANK3c.2041_2042dup (p.Pro682ArgfsTer?)
n.2625_2626dup
c.1093_1094dup (p.Pro366ArgfsTer?)
c.583_584dup (p.Pro196ArgfsTer?)
c.*1039_*1040dup (n.*1039_*1040dup)
c.2437_2438dup (p.Pro814ArgfsTer?)
c.2419_2420dup (p.Pro808ArgfsTer?)
22g.50720274delCA2657582770SHANK3c.2042del (p.Pro681ArgfsTer?)
n.2626del
c.1094del (p.Pro365ArgfsTer?)
c.584del (p.Pro195ArgfsTer?)
c.*1040del (n.*1040del)
c.2438del (p.Pro813ArgfsTer?)
c.2420del (p.Pro807ArgfsTer?)
 gnomAD v4
22g.50720273C>ACA515258769SHANK3c.2041C>A (p.Pro681Thr)
n.2625C>A
c.1093C>A (p.Pro365Thr)
c.583C>A (p.Pro195Thr)
c.*1039C>A (n.*1039C>A)
c.2437C>A (p.Pro813Thr)
c.2419C>A (p.Pro807Thr)
 gnomAD v4
22g.50720273C>GCA515258770SHANK3c.2041C>G (p.Pro681Ala)
n.2625C>G
c.1093C>G (p.Pro365Ala)
c.583C>G (p.Pro195Ala)
c.*1039C>G (n.*1039C>G)
c.2437C>G (p.Pro813Ala)
c.2419C>G (p.Pro807Ala)
 gnomAD v4
22g.50720273C>TCA515258771SHANK3c.2041C>T (p.Pro681Ser)
n.2625C>T
c.1093C>T (p.Pro365Ser)
c.583C>T (p.Pro195Ser)
c.*1039C>T (n.*1039C>T)
c.2437C>T (p.Pro813Ser)
c.2419C>T (p.Pro807Ser)
 gnomAD v4
22g.50720278_50720298delCA2657582776SHANK3c.2046_2066del (p.Pro683_Pro689del)
n.2630_2650del
c.1098_1118del (p.Pro367_Pro373del)
c.588_608del (p.Pro197_Pro203del)
c.*1044_*1064del (n.*1044_*1064del)
c.2442_2462del (p.Pro815_Pro821del)
c.2424_2444del (p.Pro809_Pro815del)
 gnomAD v4
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.50720274C>ACA515258772SHANK3c.2042C>A (p.Pro681Gln)
n.2626C>A
c.1094C>A (p.Pro365Gln)
c.584C>A (p.Pro195Gln)
c.*1040C>A (n.*1040C>A)
c.2438C>A (p.Pro813Gln)
c.2420C>A (p.Pro807Gln)
 gnomAD v4
22g.50720274C>GCA515258773SHANK3c.2042C>G (p.Pro681Arg)
n.2626C>G
c.1094C>G (p.Pro365Arg)
c.584C>G (p.Pro195Arg)
c.*1040C>G (n.*1040C>G)
c.2438C>G (p.Pro813Arg)
c.2420C>G (p.Pro807Arg)
 gnomAD v4
22g.50720274C>TCA515258774SHANK3c.2042C>T (p.Pro681Leu)
n.2626C>T
c.1094C>T (p.Pro365Leu)
c.584C>T (p.Pro195Leu)
c.*1040C>T (n.*1040C>T)
c.2438C>T (p.Pro813Leu)
c.2420C>T (p.Pro807Leu)
 gnomAD v4
22g.50720275delCA2657582786SHANK3c.2043del (p.Pro683ArgfsTer?)
n.2627del
c.1095del (p.Pro367ArgfsTer?)
c.585del (p.Pro197ArgfsTer?)
c.*1041del (n.*1041del)
c.2439del (p.Pro815ArgfsTer?)
c.2421del (p.Pro809ArgfsTer?)
 dbSNP gnomAD v4
22g.50720275G>ACA515258775SHANK3c.2043G>A (p.Pro681=)
n.2627G>A
c.1095G>A (p.Pro365=)
c.585G>A (p.Pro195=)
c.*1041G>A (n.*1041G>A)
c.2439G>A (p.Pro813=)
c.2421G>A (p.Pro807=)
 gnomAD v4
22g.50720275G>CCA515258776SHANK3c.2043G>C (p.Pro681=)
n.2627G>C
c.1095G>C (p.Pro365=)
c.585G>C (p.Pro195=)
c.*1041G>C (n.*1041G>C)
c.2439G>C (p.Pro813=)
c.2421G>C (p.Pro807=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50720275G=CA2411007532SHANK3c.2043G= (p.Pro681=)
n.2627G=
c.1095G= (p.Pro365=)
c.585G= (p.Pro195=)
c.*1041G= (n.*1041G=)
c.2439G= (p.Pro813=)
c.2421G= (p.Pro807=)
22g.50720275G>TCA515258777SHANK3c.2043G>T (p.Pro681=)
n.2627G>T
c.1095G>T (p.Pro365=)
c.585G>T (p.Pro195=)
c.*1041G>T (n.*1041G>T)
c.2439G>T (p.Pro813=)
c.2421G>T (p.Pro807=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720276C>ACA515258778SHANK3c.2044C>A (p.Pro682Thr)
n.2628C>A
c.1096C>A (p.Pro366Thr)
c.586C>A (p.Pro196Thr)
c.*1042C>A (n.*1042C>A)
c.2440C>A (p.Pro814Thr)
c.2422C>A (p.Pro808Thr)
 gnomAD v4
22g.50720276C>GCA515258779SHANK3c.2044C>G (p.Pro682Ala)
n.2628C>G
c.1096C>G (p.Pro366Ala)
c.586C>G (p.Pro196Ala)
c.*1042C>G (n.*1042C>G)
c.2440C>G (p.Pro814Ala)
c.2422C>G (p.Pro808Ala)
 gnomAD v4
22g.50720276C>TCA515258780SHANK3c.2044C>T (p.Pro682Ser)
n.2628C>T
c.1096C>T (p.Pro366Ser)
c.586C>T (p.Pro196Ser)
c.*1042C>T (n.*1042C>T)
c.2440C>T (p.Pro814Ser)
c.2422C>T (p.Pro808Ser)
 gnomAD v4
22g.50720280delCA2657582790SHANK3c.2048del (p.Pro683ArgfsTer?)
n.2632del
c.1100del (p.Pro367ArgfsTer?)
c.590del (p.Pro197ArgfsTer?)
c.*1046del (n.*1046del)
c.2444del (p.Pro815ArgfsTer?)
c.2426del (p.Pro809ArgfsTer?)
 gnomAD v4
22g.50720284_50720307delCA2657582789SHANK3c.2052_2075del (p.Gln685_Pro692del)
n.2636_2659del
c.1104_1127del (p.Gln369_Pro376del)
c.594_617del (p.Gln199_Pro206del)
c.*1050_*1073del (n.*1050_*1073del)
c.2448_2471del (p.Gln817_Pro824del)
c.2430_2453del (p.Gln811_Pro818del)
 gnomAD v4
22g.50720277C>ACA515258781SHANK3c.2045C>A (p.Pro682His)
n.2629C>A
c.1097C>A (p.Pro366His)
c.587C>A (p.Pro196His)
c.*1043C>A (n.*1043C>A)
c.2441C>A (p.Pro814His)
c.2423C>A (p.Pro808His)
 gnomAD v4
22g.50720277C=CA2411007533SHANK3c.2045C= (p.Pro682=)
n.2629C=
c.1097C= (p.Pro366=)
c.587C= (p.Pro196=)
c.*1043C= (n.*1043C=)
c.2441C= (p.Pro814=)
c.2423C= (p.Pro808=)
22g.50720277C>GCA515258783SHANK3c.2045C>G (p.Pro682Arg)
n.2629C>G
c.1097C>G (p.Pro366Arg)
c.587C>G (p.Pro196Arg)
c.*1043C>G (n.*1043C>G)
c.2441C>G (p.Pro814Arg)
c.2423C>G (p.Pro808Arg)
 gnomAD v4
22g.50720277C>TCA515258782SHANK3c.2045C>T (p.Pro682Leu)
n.2629C>T
c.1097C>T (p.Pro366Leu)
c.587C>T (p.Pro196Leu)
c.*1043C>T (n.*1043C>T)
c.2441C>T (p.Pro814Leu)
c.2423C>T (p.Pro808Leu)
 dbSNP gnomAD v2
22g.50720278C>ACA515258784SHANK3c.2046C>A (p.Pro682=)
n.2630C>A
c.1098C>A (p.Pro366=)
c.588C>A (p.Pro196=)
c.*1044C>A (n.*1044C>A)
c.2442C>A (p.Pro814=)
c.2424C>A (p.Pro808=)
 gnomAD v4
22g.50720278C=CA2411007534SHANK3c.2046C= (p.Pro682=)
n.2630C=
c.1098C= (p.Pro366=)
c.588C= (p.Pro196=)
c.*1044C= (n.*1044C=)
c.2442C= (p.Pro814=)
c.2424C= (p.Pro808=)
22g.50720278C>GCA515258786SHANK3c.2046C>G (p.Pro682=)
n.2630C>G
c.1098C>G (p.Pro366=)
c.588C>G (p.Pro196=)
c.*1044C>G (n.*1044C>G)
c.2442C>G (p.Pro814=)
c.2424C>G (p.Pro808=)
 dbSNP gnomAD v4
22g.50720278C>TCA515258787SHANK3c.2046C>T (p.Pro682=)
n.2630C>T
c.1098C>T (p.Pro366=)
c.588C>T (p.Pro196=)
c.*1044C>T (n.*1044C>T)
c.2442C>T (p.Pro814=)
c.2424C>T (p.Pro808=)
 gnomAD v4
22g.50720279C>ACA515258788SHANK3c.2047C>A (p.Pro683Thr)
n.2631C>A
c.1099C>A (p.Pro367Thr)
c.589C>A (p.Pro197Thr)
c.*1045C>A (n.*1045C>A)
c.2443C>A (p.Pro815Thr)
c.2425C>A (p.Pro809Thr)
 gnomAD v4
22g.50720279C>GCA515258789SHANK3c.2047C>G (p.Pro683Ala)
n.2631C>G
c.1099C>G (p.Pro367Ala)
c.589C>G (p.Pro197Ala)
c.*1045C>G (n.*1045C>G)
c.2443C>G (p.Pro815Ala)
c.2425C>G (p.Pro809Ala)
22g.50720279C>TCA515258790SHANK3c.2047C>T (p.Pro683Ser)
n.2631C>T
c.1099C>T (p.Pro367Ser)
c.589C>T (p.Pro197Ser)
c.*1045C>T (n.*1045C>T)
c.2443C>T (p.Pro815Ser)
c.2425C>T (p.Pro809Ser)
 gnomAD v4
22g.50720280C>ACA515258791SHANK3c.2048C>A (p.Pro683Gln)
n.2632C>A
c.1100C>A (p.Pro367Gln)
c.590C>A (p.Pro197Gln)
c.*1046C>A (n.*1046C>A)
c.2444C>A (p.Pro815Gln)
c.2426C>A (p.Pro809Gln)
 gnomAD v4
22g.50720280C>GCA515258792SHANK3c.2048C>G (p.Pro683Arg)
n.2632C>G
c.1100C>G (p.Pro367Arg)
c.590C>G (p.Pro197Arg)
c.*1046C>G (n.*1046C>G)
c.2444C>G (p.Pro815Arg)
c.2426C>G (p.Pro809Arg)
22g.50720280C>TCA515258793SHANK3c.2048C>T (p.Pro683Leu)
n.2632C>T
c.1100C>T (p.Pro367Leu)
c.590C>T (p.Pro197Leu)
c.*1046C>T (n.*1046C>T)
c.2444C>T (p.Pro815Leu)
c.2426C>T (p.Pro809Leu)
 gnomAD v4
22g.50720281delCA2497028888SHANK3c.2049del (p.Pro684ArgfsTer?)
n.2633del
c.1101del (p.Pro368ArgfsTer?)
c.591del (p.Pro198ArgfsTer?)
c.*1047del (n.*1047del)
c.2445del (p.Pro816ArgfsTer?)
c.2427del (p.Pro810ArgfsTer?)
 dbSNP
22g.50720281G>ACA515258794SHANK3c.2049G>A (p.Pro683=)
n.2633G>A
c.1101G>A (p.Pro367=)
c.591G>A (p.Pro197=)
c.*1047G>A (n.*1047G>A)
c.2445G>A (p.Pro815=)
c.2427G>A (p.Pro809=)
 dbSNP gnomAD v4
22g.50720281G>CCA515258795SHANK3c.2049G>C (p.Pro683=)
n.2633G>C
c.1101G>C (p.Pro367=)
c.591G>C (p.Pro197=)
c.*1047G>C (n.*1047G>C)
c.2445G>C (p.Pro815=)
c.2427G>C (p.Pro809=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50720281G=CA2411007535SHANK3c.2049G= (p.Pro683=)
n.2633G=
c.1101G= (p.Pro367=)
c.591G= (p.Pro197=)
c.*1047G= (n.*1047G=)
c.2445G= (p.Pro815=)
c.2427G= (p.Pro809=)
22g.50720281G>TCA515258796SHANK3c.2049G>T (p.Pro683=)
n.2633G>T
c.1101G>T (p.Pro367=)
c.591G>T (p.Pro197=)
c.*1047G>T (n.*1047G>T)
c.2445G>T (p.Pro815=)
c.2427G>T (p.Pro809=)
 gnomAD v4
22g.50720281_50720293delCA2738228243SHANK3c.2049_2061del (p.Pro684ArgfsTer?)
n.2633_2645del
c.1101_1113del (p.Pro368ArgfsTer?)
c.591_603del (p.Pro198ArgfsTer?)
c.*1047_*1059del (n.*1047_*1059del)
c.2445_2457del (p.Pro816ArgfsTer?)
c.2427_2439del (p.Pro810ArgfsTer?)
 dbSNP
22g.50720281_50720296delCA2738228200SHANK3c.2049_2064del (p.Pro684LeufsTer?)
n.2633_2648del
c.1101_1116del (p.Pro368LeufsTer?)
c.591_606del (p.Pro198LeufsTer?)
c.*1047_*1062del (n.*1047_*1062del)
c.2445_2460del (p.Pro816LeufsTer?)
c.2427_2442del (p.Pro810LeufsTer?)
 dbSNP
22g.50720282C>ACA515258799SHANK3c.2050C>A (p.Pro684Thr)
n.2634C>A
c.1102C>A (p.Pro368Thr)
c.592C>A (p.Pro198Thr)
c.*1048C>A (n.*1048C>A)
c.2446C>A (p.Pro816Thr)
c.2428C>A (p.Pro810Thr)
 gnomAD v4
22g.50720282C>GCA515258798SHANK3c.2050C>G (p.Pro684Ala)
n.2634C>G
c.1102C>G (p.Pro368Ala)
c.592C>G (p.Pro198Ala)
c.*1048C>G (n.*1048C>G)
c.2446C>G (p.Pro816Ala)
c.2428C>G (p.Pro810Ala)
22g.50720282C>TCA515258797SHANK3c.2050C>T (p.Pro684Ser)
n.2634C>T
c.1102C>T (p.Pro368Ser)
c.592C>T (p.Pro198Ser)
c.*1048C>T (n.*1048C>T)
c.2446C>T (p.Pro816Ser)
c.2428C>T (p.Pro810Ser)
 gnomAD v4
22g.50720283C>ACA515258801SHANK3c.2051C>A (p.Pro684Gln)
n.2635C>A
c.1103C>A (p.Pro368Gln)
c.593C>A (p.Pro198Gln)
c.*1049C>A (n.*1049C>A)
c.2447C>A (p.Pro816Gln)
c.2429C>A (p.Pro810Gln)
 gnomAD v4
22g.50720283C>GCA515258802SHANK3c.2051C>G (p.Pro684Arg)
n.2635C>G
c.1103C>G (p.Pro368Arg)
c.593C>G (p.Pro198Arg)
c.*1049C>G (n.*1049C>G)
c.2447C>G (p.Pro816Arg)
c.2429C>G (p.Pro810Arg)
22g.50720283C>TCA515258803SHANK3c.2051C>T (p.Pro684Leu)
n.2635C>T
c.1103C>T (p.Pro368Leu)
c.593C>T (p.Pro198Leu)
c.*1049C>T (n.*1049C>T)
c.2447C>T (p.Pro816Leu)
c.2429C>T (p.Pro810Leu)
 gnomAD v4
22g.50720284_50720300delCA2497028889SHANK3c.2052_2068del (p.Gln685ProfsTer?)
n.2636_2652del
c.1104_1120del (p.Gln369ProfsTer?)
c.594_610del (p.Gln199ProfsTer?)
c.*1050_*1066del (n.*1050_*1066del)
c.2448_2464del (p.Gln817ProfsTer?)
c.2430_2446del (p.Gln811ProfsTer?)
22g.50720284G>ACA515258804SHANK3c.2052G>A (p.Pro684=)
n.2636G>A
c.1104G>A (p.Pro368=)
c.594G>A (p.Pro198=)
c.*1050G>A (n.*1050G>A)
c.2448G>A (p.Pro816=)
c.2430G>A (p.Pro810=)
 gnomAD v4 COSMIC
22g.50720284G>CCA515258805SHANK3c.2052G>C (p.Pro684=)
n.2636G>C
c.1104G>C (p.Pro368=)
c.594G>C (p.Pro198=)
c.*1050G>C (n.*1050G>C)
c.2448G>C (p.Pro816=)
c.2430G>C (p.Pro810=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50720284G=CA2411007536SHANK3c.2052G= (p.Pro684=)
n.2636G=
c.1104G= (p.Pro368=)
c.594G= (p.Pro198=)
c.*1050G= (n.*1050G=)
c.2448G= (p.Pro816=)
c.2430G= (p.Pro810=)
22g.50720284G>TCA515258806SHANK3c.2052G>T (p.Pro684=)
n.2636G>T
c.1104G>T (p.Pro368=)
c.594G>T (p.Pro198=)
c.*1050G>T (n.*1050G>T)
c.2448G>T (p.Pro816=)
c.2430G>T (p.Pro810=)
 dbSNP gnomAD v3 gnomAD v4
22g.50720284_50720288delCA2497028972SHANK3c.2052_2056del (p.Gln685ArgfsTer?)
n.2636_2640del
c.1104_1108del (p.Gln369ArgfsTer?)
c.594_598del (p.Gln199ArgfsTer?)
c.*1050_*1054del (n.*1050_*1054del)
c.2448_2452del (p.Gln817ArgfsTer?)
c.2430_2434del (p.Gln811ArgfsTer?)
 dbSNP
22g.50720284_50720293delCA2573129698SHANK3c.2052_2061del (p.Gln685ArgfsTer?)
n.2636_2645del
c.1104_1113del (p.Gln369ArgfsTer?)
c.594_603del (p.Gln199ArgfsTer?)
c.*1050_*1059del (n.*1050_*1059del)
c.2448_2457del (p.Gln817ArgfsTer?)
c.2430_2439del (p.Gln811ArgfsTer?)
 dbSNP
22g.50720284_50720299delCA2738228275SHANK3c.2052_2067del (p.Gln685ProfsTer?)
n.2636_2651del
c.1104_1119del (p.Gln369ProfsTer?)
c.594_609del (p.Gln199ProfsTer?)
c.*1050_*1065del (n.*1050_*1065del)
c.2448_2463del (p.Gln817ProfsTer?)
c.2430_2445del (p.Gln811ProfsTer?)
 dbSNP
22g.50720285C>ACA515258807SHANK3c.2053C>A (p.Gln685Lys)
n.2637C>A
c.1105C>A (p.Gln369Lys)
c.595C>A (p.Gln199Lys)
c.*1051C>A (n.*1051C>A)
c.2449C>A (p.Gln817Lys)
c.2431C>A (p.Gln811Lys)
 gnomAD v4
22g.50720285C>GCA515258808SHANK3c.2053C>G (p.Gln685Glu)
n.2637C>G
c.1105C>G (p.Gln369Glu)
c.595C>G (p.Gln199Glu)
c.*1051C>G (n.*1051C>G)
c.2449C>G (p.Gln817Glu)
c.2431C>G (p.Gln811Glu)
 gnomAD v4
22g.50720285C>TCA515258809SHANK3c.2053C>T (p.Gln685Ter)
n.2637C>T
c.1105C>T (p.Gln369Ter)
c.595C>T (p.Gln199Ter)
c.*1051C>T (n.*1051C>T)
c.2449C>T (p.Gln817Ter)
c.2431C>T (p.Gln811Ter)
 gnomAD v4
22g.50720286A=CA2411007537SHANK3c.2054A= (p.Gln685=)
n.2638A=
c.1106A= (p.Gln369=)
c.596A= (p.Gln199=)
c.*1052A= (n.*1052A=)
c.2450A= (p.Gln817=)
c.2432A= (p.Gln811=)
22g.50720286A>CCA16609106SHANK3c.2054A>C (p.Gln685Pro)
n.2638A>C
c.1106A>C (p.Gln369Pro)
c.596A>C (p.Gln199Pro)
c.*1052A>C (n.*1052A>C)
c.2450A>C (p.Gln817Pro)
c.2432A>C (p.Gln811Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50720286A>GCA515258811SHANK3c.2054A>G (p.Gln685Arg)
n.2638A>G
c.1106A>G (p.Gln369Arg)
c.596A>G (p.Gln199Arg)
c.*1052A>G (n.*1052A>G)
c.2450A>G (p.Gln817Arg)
c.2432A>G (p.Gln811Arg)
 gnomAD v4
22g.50720286A>TCA515258812SHANK3c.2054A>T (p.Gln685Leu)
n.2638A>T
c.1106A>T (p.Gln369Leu)
c.596A>T (p.Gln199Leu)
c.*1052A>T (n.*1052A>T)
c.2450A>T (p.Gln817Leu)
c.2432A>T (p.Gln811Leu)
22g.50720286_50720288delCA2261233019SHANK3c.2054_2056del (p.Gln685_Thr686delinsPro)
n.2638_2640del
c.1106_1108del (p.Gln369_Thr370delinsPro)
c.596_598del (p.Gln199_Thr200delinsPro)
c.*1052_*1054del (n.*1052_*1054del)
c.2450_2452del (p.Gln817_Thr818delinsPro)
c.2432_2434del (p.Gln811_Thr812delinsPro)
 dbSNP
22g.50720287_50720288delCA1139771599SHANK3c.2055_2056del (p.Gln685HisfsTer?)
n.2639_2640del
c.1107_1108del (p.Gln369HisfsTer?)
c.597_598del (p.Gln199HisfsTer?)
c.*1053_*1054del (n.*1053_*1054del)
c.2451_2452del (p.Gln817HisfsTer?)
c.2433_2434del (p.Gln811HisfsTer?)
22g.50720287G>ACA10325922SHANK3c.2055G>A (p.Gln685=)
n.2639G>A
c.1107G>A (p.Gln369=)
c.597G>A (p.Gln199=)
c.*1053G>A (n.*1053G>A)
c.2451G>A (p.Gln817=)
c.2433G>A (p.Gln811=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50720287G>CCA515258814SHANK3c.2055G>C (p.Gln685His)
n.2639G>C
c.1107G>C (p.Gln369His)
c.597G>C (p.Gln199His)
c.*1053G>C (n.*1053G>C)
c.2451G>C (p.Gln817His)
c.2433G>C (p.Gln811His)
 dbSNP gnomAD v3 gnomAD v4
22g.50720287G=CA2411007538SHANK3c.2055G= (p.Gln685=)
n.2639G=
c.1107G= (p.Gln369=)
c.597G= (p.Gln199=)
c.*1053G= (n.*1053G=)
c.2451G= (p.Gln817=)
c.2433G= (p.Gln811=)
22g.50720287G>TCA515258813SHANK3c.2055G>T (p.Gln685His)
n.2639G>T
c.1107G>T (p.Gln369His)
c.597G>T (p.Gln199His)
c.*1053G>T (n.*1053G>T)
c.2451G>T (p.Gln817His)
c.2433G>T (p.Gln811His)
 gnomAD v4
22g.50720288A>CCA515258815SHANK3c.2056A>C (p.Thr686Pro)
n.2640A>C
c.1108A>C (p.Thr370Pro)
c.598A>C (p.Thr200Pro)
c.*1054A>C (n.*1054A>C)
c.2452A>C (p.Thr818Pro)
c.2434A>C (p.Thr812Pro)
22g.50720288A>GCA515258819SHANK3c.2056A>G (p.Thr686Ala)
n.2640A>G
c.1108A>G (p.Thr370Ala)
c.598A>G (p.Thr200Ala)
c.*1054A>G (n.*1054A>G)
c.2452A>G (p.Thr818Ala)
c.2434A>G (p.Thr812Ala)
 gnomAD v4
22g.50720288A>TCA515258818SHANK3c.2056A>T (p.Thr686Ser)
n.2640A>T
c.1108A>T (p.Thr370Ser)
c.598A>T (p.Thr200Ser)
c.*1054A>T (n.*1054A>T)
c.2452A>T (p.Thr818Ser)
c.2434A>T (p.Thr812Ser)
22g.50720289C>ACA515258820SHANK3c.2057C>A (p.Thr686Asn)
n.2641C>A
c.1109C>A (p.Thr370Asn)
c.599C>A (p.Thr200Asn)
c.*1055C>A (n.*1055C>A)
c.2453C>A (p.Thr818Asn)
c.2435C>A (p.Thr812Asn)
 dbSNP gnomAD v4
22g.50720289C=CA2411007539SHANK3c.2057C= (p.Thr686=)
n.2641C=
c.1109C= (p.Thr370=)
c.599C= (p.Thr200=)
c.*1055C= (n.*1055C=)
c.2453C= (p.Thr818=)
c.2435C= (p.Thr812=)
22g.50720289C>GCA515258821SHANK3c.2057C>G (p.Thr686Ser)
n.2641C>G
c.1109C>G (p.Thr370Ser)
c.599C>G (p.Thr200Ser)
c.*1055C>G (n.*1055C>G)
c.2453C>G (p.Thr818Ser)
c.2435C>G (p.Thr812Ser)
 gnomAD v4
22g.50720289C>TCA515258822SHANK3c.2057C>T (p.Thr686Ile)
n.2641C>T
c.1109C>T (p.Thr370Ile)
c.599C>T (p.Thr200Ile)
c.*1055C>T (n.*1055C>T)
c.2453C>T (p.Thr818Ile)
c.2435C>T (p.Thr812Ile)
 dbSNP gnomAD v2 gnomAD v3 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.50720290C>ACA515258823SHANK3c.2058C>A (p.Thr686=)
n.2642C>A
c.1110C>A (p.Thr370=)
c.600C>A (p.Thr200=)
c.*1056C>A (n.*1056C>A)
c.2454C>A (p.Thr818=)
c.2436C>A (p.Thr812=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50720290C=CA2411007540SHANK3c.2058C= (p.Thr686=)
n.2642C=
c.1110C= (p.Thr370=)
c.600C= (p.Thr200=)
c.*1056C= (n.*1056C=)
c.2454C= (p.Thr818=)
c.2436C= (p.Thr812=)
22g.50720290C>GCA515258825SHANK3c.2058C>G (p.Thr686=)
n.2642C>G
c.1110C>G (p.Thr370=)
c.600C>G (p.Thr200=)
c.*1056C>G (n.*1056C>G)
c.2454C>G (p.Thr818=)
c.2436C>G (p.Thr812=)
22g.50720290C>TCA325578035SHANK3c.2058C>T (p.Thr686=)
n.2642C>T
c.1110C>T (p.Thr370=)
c.600C>T (p.Thr200=)
c.*1056C>T (n.*1056C>T)
c.2454C>T (p.Thr818=)
c.2436C>T (p.Thr812=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720291G>ACA515258826SHANK3c.2059G>A (p.Ala687Thr)
n.2643G>A
c.1111G>A (p.Ala371Thr)
c.601G>A (p.Ala201Thr)
c.*1057G>A (n.*1057G>A)
c.2455G>A (p.Ala819Thr)
c.2437G>A (p.Ala813Thr)
 gnomAD v4
22g.50720291G>CCA515258827SHANK3c.2059G>C (p.Ala687Pro)
n.2643G>C
c.1111G>C (p.Ala371Pro)
c.601G>C (p.Ala201Pro)
c.*1057G>C (n.*1057G>C)
c.2455G>C (p.Ala819Pro)
c.2437G>C (p.Ala813Pro)
 dbSNP gnomAD v4
22g.50720291G>TCA515258829SHANK3c.2059G>T (p.Ala687Ser)
n.2643G>T
c.1111G>T (p.Ala371Ser)
c.601G>T (p.Ala201Ser)
c.*1057G>T (n.*1057G>T)
c.2455G>T (p.Ala819Ser)
c.2437G>T (p.Ala813Ser)
22g.50720291_50720293delCA2738228406SHANK3c.2059_2061del (p.Ala687del)
n.2643_2645del
c.1111_1113del (p.Ala371del)
c.601_603del (p.Ala201del)
c.*1057_*1059del (n.*1057_*1059del)
c.2455_2457del (p.Ala819del)
c.2437_2439del (p.Ala813del)
 dbSNP
22g.50720292C>ACA515258830SHANK3c.2060C>A (p.Ala687Glu)
n.2644C>A
c.1112C>A (p.Ala371Glu)
c.602C>A (p.Ala201Glu)
c.*1058C>A (n.*1058C>A)
c.2456C>A (p.Ala819Glu)
c.2438C>A (p.Ala813Glu)
 gnomAD v4
22g.50720292C=CA2411007541SHANK3c.2060C= (p.Ala687=)
n.2644C=
c.1112C= (p.Ala371=)
c.602C= (p.Ala201=)
c.*1058C= (n.*1058C=)
c.2456C= (p.Ala819=)
c.2438C= (p.Ala813=)
22g.50720292C>GCA515258831SHANK3c.2060C>G (p.Ala687Gly)
n.2644C>G
c.1112C>G (p.Ala371Gly)
c.602C>G (p.Ala201Gly)
c.*1058C>G (n.*1058C>G)
c.2456C>G (p.Ala819Gly)
c.2438C>G (p.Ala813Gly)
 gnomAD v4
22g.50720292C>TCA515258832SHANK3c.2060C>T (p.Ala687Val)
n.2644C>T
c.1112C>T (p.Ala371Val)
c.602C>T (p.Ala201Val)
c.*1058C>T (n.*1058C>T)
c.2456C>T (p.Ala819Val)
c.2438C>T (p.Ala813Val)
 dbSNP gnomAD v2 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.50720293G>ACA515258835SHANK3c.2061G>A (p.Ala687=)
n.2645G>A
c.1113G>A (p.Ala371=)
c.603G>A (p.Ala201=)
c.*1059G>A (n.*1059G>A)
c.2457G>A (p.Ala819=)
c.2439G>A (p.Ala813=)
 dbSNP gnomAD v4
22g.50720293G>CCA515258833SHANK3c.2061G>C (p.Ala687=)
n.2645G>C
c.1113G>C (p.Ala371=)
c.603G>C (p.Ala201=)
c.*1059G>C (n.*1059G>C)
c.2457G>C (p.Ala819=)
c.2439G>C (p.Ala813=)
 ClinVar dbSNP
22g.50720293G=CA2411007542SHANK3c.2061G= (p.Ala687=)
n.2645G=
c.1113G= (p.Ala371=)
c.603G= (p.Ala201=)
c.*1059G= (n.*1059G=)
c.2457G= (p.Ala819=)
c.2439G= (p.Ala813=)
22g.50720293G>TCA515258834SHANK3c.2061G>T (p.Ala687=)
n.2645G>T
c.1113G>T (p.Ala371=)
c.603G>T (p.Ala201=)
c.*1059G>T (n.*1059G>T)
c.2457G>T (p.Ala819=)
c.2439G>T (p.Ala813=)
 gnomAD v4
22g.50720294C>ACA515258836SHANK3c.2062C>A (p.Pro688Thr)
n.2646C>A
c.1114C>A (p.Pro372Thr)
c.604C>A (p.Pro202Thr)
c.*1060C>A (n.*1060C>A)
c.2458C>A (p.Pro820Thr)
c.2440C>A (p.Pro814Thr)
 gnomAD v4
22g.50720294C>GCA515258837SHANK3c.2062C>G (p.Pro688Ala)
n.2646C>G
c.1114C>G (p.Pro372Ala)
c.604C>G (p.Pro202Ala)
c.*1060C>G (n.*1060C>G)
c.2458C>G (p.Pro820Ala)
c.2440C>G (p.Pro814Ala)
22g.50720294C>TCA515258838SHANK3c.2062C>T (p.Pro688Ser)
n.2646C>T
c.1114C>T (p.Pro372Ser)
c.604C>T (p.Pro202Ser)
c.*1060C>T (n.*1060C>T)
c.2458C>T (p.Pro820Ser)
c.2440C>T (p.Pro814Ser)
 gnomAD v4
22g.50720295C>ACA515258839SHANK3c.2063C>A (p.Pro688Gln)
n.2647C>A
c.1115C>A (p.Pro372Gln)
c.605C>A (p.Pro202Gln)
c.*1061C>A (n.*1061C>A)
c.2459C>A (p.Pro820Gln)
c.2441C>A (p.Pro814Gln)
 gnomAD v4
22g.50720295C=CA2411007543SHANK3c.2063C= (p.Pro688=)
n.2647C=
c.1115C= (p.Pro372=)
c.605C= (p.Pro202=)
c.*1061C= (n.*1061C=)
c.2459C= (p.Pro820=)
c.2441C= (p.Pro814=)
22g.50720295C>GCA515258840SHANK3c.2063C>G (p.Pro688Arg)
n.2647C>G
c.1115C>G (p.Pro372Arg)
c.605C>G (p.Pro202Arg)
c.*1061C>G (n.*1061C>G)
c.2459C>G (p.Pro820Arg)
c.2441C>G (p.Pro814Arg)
22g.50720295C>TCA325578041SHANK3c.2063C>T (p.Pro688Leu)
n.2647C>T
c.1115C>T (p.Pro372Leu)
c.605C>T (p.Pro202Leu)
c.*1061C>T (n.*1061C>T)
c.2459C>T (p.Pro820Leu)
c.2441C>T (p.Pro814Leu)
 dbSNP gnomAD v3 gnomAD v4
22g.50720296G>ACA515258841SHANK3c.2064G>A (p.Pro688=)
n.2648G>A
c.1116G>A (p.Pro372=)
c.606G>A (p.Pro202=)
c.*1062G>A (n.*1062G>A)
c.2460G>A (p.Pro820=)
c.2442G>A (p.Pro814=)
 dbSNP gnomAD v4
22g.50720296G>CCA515258842SHANK3c.2064G>C (p.Pro688=)
n.2648G>C
c.1116G>C (p.Pro372=)
c.606G>C (p.Pro202=)
c.*1062G>C (n.*1062G>C)
c.2460G>C (p.Pro820=)
c.2442G>C (p.Pro814=)
 ClinVar dbSNP gnomAD v4
22g.50720296G=CA2411007544SHANK3c.2064G= (p.Pro688=)
n.2648G=
c.1116G= (p.Pro372=)
c.606G= (p.Pro202=)
c.*1062G= (n.*1062G=)
c.2460G= (p.Pro820=)
c.2442G= (p.Pro814=)
22g.50720296G>TCA515258843SHANK3c.2064G>T (p.Pro688=)
n.2648G>T
c.1116G>T (p.Pro372=)
c.606G>T (p.Pro202=)
c.*1062G>T (n.*1062G>T)
c.2460G>T (p.Pro820=)
c.2442G>T (p.Pro814=)
 gnomAD v4
22g.50720297C>ACA515258844SHANK3c.2065C>A (p.Pro689Thr)
n.2649C>A
c.1117C>A (p.Pro373Thr)
c.607C>A (p.Pro203Thr)
c.*1063C>A (n.*1063C>A)
c.2461C>A (p.Pro821Thr)
c.2443C>A (p.Pro815Thr)
 dbSNP gnomAD v4
22g.50720297C>GCA515258845SHANK3c.2065C>G (p.Pro689Ala)
n.2649C>G
c.1117C>G (p.Pro373Ala)
c.607C>G (p.Pro203Ala)
c.*1063C>G (n.*1063C>G)
c.2461C>G (p.Pro821Ala)
c.2443C>G (p.Pro815Ala)
22g.50720297C>TCA515258846SHANK3c.2065C>T (p.Pro689Ser)
n.2649C>T
c.1117C>T (p.Pro373Ser)
c.607C>T (p.Pro203Ser)
c.*1063C>T (n.*1063C>T)
c.2461C>T (p.Pro821Ser)
c.2443C>T (p.Pro815Ser)
 dbSNP gnomAD v4
22g.50720298C>ACA515258850SHANK3c.2066C>A (p.Pro689His)
n.2650C>A
c.1118C>A (p.Pro373His)
c.608C>A (p.Pro203His)
c.*1064C>A (n.*1064C>A)
c.2462C>A (p.Pro821His)
c.2444C>A (p.Pro815His)
 gnomAD v4
22g.50720298C>GCA515258849SHANK3c.2066C>G (p.Pro689Arg)
n.2650C>G
c.1118C>G (p.Pro373Arg)
c.608C>G (p.Pro203Arg)
c.*1064C>G (n.*1064C>G)
c.2462C>G (p.Pro821Arg)
c.2444C>G (p.Pro815Arg)
 gnomAD v4
22g.50720298C>TCA515258848SHANK3c.2066C>T (p.Pro689Leu)
n.2650C>T
c.1118C>T (p.Pro373Leu)
c.608C>T (p.Pro203Leu)
c.*1064C>T (n.*1064C>T)
c.2462C>T (p.Pro821Leu)
c.2444C>T (p.Pro815Leu)
 gnomAD v4
22g.50720299T>ACA515258853SHANK3c.2067T>A (p.Pro689=)
n.2651T>A
c.1119T>A (p.Pro373=)
c.609T>A (p.Pro203=)
c.*1065T>A (n.*1065T>A)
c.2463T>A (p.Pro821=)
c.2445T>A (p.Pro815=)
22g.50720299T>CCA515258851SHANK3c.2067T>C (p.Pro689=)
n.2651T>C
c.1119T>C (p.Pro373=)
c.609T>C (p.Pro203=)
c.*1065T>C (n.*1065T>C)
c.2463T>C (p.Pro821=)
c.2445T>C (p.Pro815=)
 dbSNP gnomAD v4
22g.50720299T>GCA515258852SHANK3c.2067T>G (p.Pro689=)
n.2651T>G
c.1119T>G (p.Pro373=)
c.609T>G (p.Pro203=)
c.*1065T>G (n.*1065T>G)
c.2463T>G (p.Pro821=)
c.2445T>G (p.Pro815=)
 gnomAD v4
22g.50720299T=CA2411007546SHANK3c.2067T= (p.Pro689=)
n.2651T=
c.1119T= (p.Pro373=)
c.609T= (p.Pro203=)
c.*1065T= (n.*1065T=)
c.2463T= (p.Pro821=)
c.2445T= (p.Pro815=)
22g.50720299_50720300delinsTCCA2411007545SHANK3c.2067_2068delinsTC (p.Pro689=)
n.2651_2652delinsTC
c.1119_1120delinsTC (p.Pro373=)
c.609_610delinsTC (p.Pro203=)
c.*1065_*1066delinsTC (n.*1065_*1066delinsTC)
c.2463_2464delinsTC (p.Pro821=)
c.2445_2446delinsTC (p.Pro815=)
22g.50720300C>ACA515258854SHANK3c.2068C>A (p.Pro690Thr)
n.2652C>A
c.1120C>A (p.Pro374Thr)
c.610C>A (p.Pro204Thr)
c.*1066C>A (n.*1066C>A)
c.2464C>A (p.Pro822Thr)
c.2446C>A (p.Pro816Thr)
 gnomAD v4
22g.50720300C=CA2411007547SHANK3c.2068C= (p.Pro690=)
n.2652C=
c.1120C= (p.Pro374=)
c.610C= (p.Pro204=)
c.*1066C= (n.*1066C=)
c.2464C= (p.Pro822=)
c.2446C= (p.Pro816=)
22g.50720300C>GCA515258855SHANK3c.2068C>G (p.Pro690Ala)
n.2652C>G
c.1120C>G (p.Pro374Ala)
c.610C>G (p.Pro204Ala)
c.*1066C>G (n.*1066C>G)
c.2464C>G (p.Pro822Ala)
c.2446C>G (p.Pro816Ala)
22g.50720300C>TCA515258856SHANK3c.2068C>T (p.Pro690Ser)
n.2652C>T
c.1120C>T (p.Pro374Ser)
c.610C>T (p.Pro204Ser)
c.*1066C>T (n.*1066C>T)
c.2464C>T (p.Pro822Ser)
c.2446C>T (p.Pro816Ser)
 dbSNP gnomAD v2 gnomAD v4
22g.50720304dupCA2819315378SHANK3c.2072dup (p.Pro692AlafsTer?)
n.2656dup
c.1124dup (p.Pro376AlafsTer?)
c.614dup (p.Pro206AlafsTer?)
c.*1070dup (n.*1070dup)
c.2468dup (p.Pro824AlafsTer?)
c.2450dup (p.Pro818AlafsTer?)
22g.50720304delCA640058691SHANK3c.2072del (p.Pro691ArgfsTer?)
n.2656del
c.1124del (p.Pro375ArgfsTer?)
c.614del (p.Pro205ArgfsTer?)
c.*1070del (n.*1070del)
c.2468del (p.Pro823ArgfsTer?)
c.2450del (p.Pro817ArgfsTer?)
 dbSNP gnomAD v2 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.50720301C>ACA515258859SHANK3c.2069C>A (p.Pro690His)
n.2653C>A
c.1121C>A (p.Pro374His)
c.611C>A (p.Pro204His)
c.*1067C>A (n.*1067C>A)
c.2465C>A (p.Pro822His)
c.2447C>A (p.Pro816His)
 gnomAD v4
22g.50720301C>GCA515258858SHANK3c.2069C>G (p.Pro690Arg)
n.2653C>G
c.1121C>G (p.Pro374Arg)
c.611C>G (p.Pro204Arg)
c.*1067C>G (n.*1067C>G)
c.2465C>G (p.Pro822Arg)
c.2447C>G (p.Pro816Arg)
 gnomAD v4
22g.50720301C>TCA515258857SHANK3c.2069C>T (p.Pro690Leu)
n.2653C>T
c.1121C>T (p.Pro374Leu)
c.611C>T (p.Pro204Leu)
c.*1067C>T (n.*1067C>T)
c.2465C>T (p.Pro822Leu)
c.2447C>T (p.Pro816Leu)
 gnomAD v4
22g.50720302C>ACA515258860SHANK3c.2070C>A (p.Pro690=)
n.2654C>A
c.1122C>A (p.Pro374=)
c.612C>A (p.Pro204=)
c.*1068C>A (n.*1068C>A)
c.2466C>A (p.Pro822=)
c.2448C>A (p.Pro816=)
 dbSNP gnomAD v4
22g.50720302C=CA2411007548SHANK3c.2070C= (p.Pro690=)
n.2654C=
c.1122C= (p.Pro374=)
c.612C= (p.Pro204=)
c.*1068C= (n.*1068C=)
c.2466C= (p.Pro822=)
c.2448C= (p.Pro816=)
22g.50720302C>GCA515258861SHANK3c.2070C>G (p.Pro690=)
n.2654C>G
c.1122C>G (p.Pro374=)
c.612C>G (p.Pro204=)
c.*1068C>G (n.*1068C>G)
c.2466C>G (p.Pro822=)
c.2448C>G (p.Pro816=)
 dbSNP gnomAD v2 gnomAD v4
22g.50720302C>TCA515258862SHANK3c.2070C>T (p.Pro690=)
n.2654C>T
c.1122C>T (p.Pro374=)
c.612C>T (p.Pro204=)
c.*1068C>T (n.*1068C>T)
c.2466C>T (p.Pro822=)
c.2448C>T (p.Pro816=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50720303C>ACA515258863SHANK3c.2071C>A (p.Pro691Thr)
n.2655C>A
c.1123C>A (p.Pro375Thr)
c.613C>A (p.Pro205Thr)
c.*1069C>A (n.*1069C>A)
c.2467C>A (p.Pro823Thr)
c.2449C>A (p.Pro817Thr)
 gnomAD v4
22g.50720303C>GCA515258864SHANK3c.2071C>G (p.Pro691Ala)
n.2655C>G
c.1123C>G (p.Pro375Ala)
c.613C>G (p.Pro205Ala)
c.*1069C>G (n.*1069C>G)
c.2467C>G (p.Pro823Ala)
c.2449C>G (p.Pro817Ala)
22g.50720303C>TCA515258865SHANK3c.2071C>T (p.Pro691Ser)
n.2655C>T
c.1123C>T (p.Pro375Ser)
c.613C>T (p.Pro205Ser)
c.*1069C>T (n.*1069C>T)
c.2467C>T (p.Pro823Ser)
c.2449C>T (p.Pro817Ser)
 gnomAD v4
22g.50720304C>ACA515258866SHANK3c.2072C>A (p.Pro691Gln)
n.2656C>A
c.1124C>A (p.Pro375Gln)
c.614C>A (p.Pro205Gln)
c.*1070C>A (n.*1070C>A)
c.2468C>A (p.Pro823Gln)
c.2450C>A (p.Pro817Gln)
 gnomAD v4
22g.50720304C=CA2411007549SHANK3c.2072C= (p.Pro691=)
n.2656C=
c.1124C= (p.Pro375=)
c.614C= (p.Pro205=)
c.*1070C= (n.*1070C=)
c.2468C= (p.Pro823=)
c.2450C= (p.Pro817=)
22g.50720304C>GCA515258868SHANK3c.2072C>G (p.Pro691Arg)
n.2656C>G
c.1124C>G (p.Pro375Arg)
c.614C>G (p.Pro205Arg)
c.*1070C>G (n.*1070C>G)
c.2468C>G (p.Pro823Arg)
c.2450C>G (p.Pro817Arg)
 dbSNP gnomAD v3 gnomAD v4
22g.50720304C>TCA515258867SHANK3c.2072C>T (p.Pro691Leu)
n.2656C>T
c.1124C>T (p.Pro375Leu)
c.614C>T (p.Pro205Leu)
c.*1070C>T (n.*1070C>T)
c.2468C>T (p.Pro823Leu)
c.2450C>T (p.Pro817Leu)
 gnomAD v4
22g.50720305G>ACA515258869SHANK3c.2073G>A (p.Pro691=)
n.2657G>A
c.1125G>A (p.Pro375=)
c.615G>A (p.Pro205=)
c.*1071G>A (n.*1071G>A)
c.2469G>A (p.Pro823=)
c.2451G>A (p.Pro817=)
 gnomAD v4
22g.50720305G>CCA515258870SHANK3c.2073G>C (p.Pro691=)
n.2657G>C
c.1125G>C (p.Pro375=)
c.615G>C (p.Pro205=)
c.*1071G>C (n.*1071G>C)
c.2469G>C (p.Pro823=)
c.2451G>C (p.Pro817=)
 ClinVar dbSNP
22g.50720305G>TCA515258871SHANK3c.2073G>T (p.Pro691=)
n.2657G>T
c.1125G>T (p.Pro375=)
c.615G>T (p.Pro205=)
c.*1071G>T (n.*1071G>T)
c.2469G>T (p.Pro823=)
c.2451G>T (p.Pro817=)
 gnomAD v4
22g.50720306C>ACA515258873SHANK3c.2074C>A (p.Pro692Thr)
n.2658C>A
c.1126C>A (p.Pro376Thr)
c.616C>A (p.Pro206Thr)
c.*1072C>A (n.*1072C>A)
c.2470C>A (p.Pro824Thr)
c.2452C>A (p.Pro818Thr)
 gnomAD v4
22g.50720306C>GCA515258875SHANK3c.2074C>G (p.Pro692Ala)
n.2658C>G
c.1126C>G (p.Pro376Ala)
c.616C>G (p.Pro206Ala)
c.*1072C>G (n.*1072C>G)
c.2470C>G (p.Pro824Ala)
c.2452C>G (p.Pro818Ala)
 gnomAD v4
22g.50720306C>TCA515258876SHANK3c.2074C>T (p.Pro692Ser)
n.2658C>T
c.1126C>T (p.Pro376Ser)
c.616C>T (p.Pro206Ser)
c.*1072C>T (n.*1072C>T)
c.2470C>T (p.Pro824Ser)
c.2452C>T (p.Pro818Ser)
 gnomAD v4
22g.50720307C>ACA515258878SHANK3c.2075C>A (p.Pro692His)
n.2659C>A
c.1127C>A (p.Pro376His)
c.617C>A (p.Pro206His)
c.*1073C>A (n.*1073C>A)
c.2471C>A (p.Pro824His)
c.2453C>A (p.Pro818His)
 gnomAD v4
22g.50720307C=CA2411007550SHANK3c.2075C= (p.Pro692=)
n.2659C=
c.1127C= (p.Pro376=)
c.617C= (p.Pro206=)
c.*1073C= (n.*1073C=)
c.2471C= (p.Pro824=)
c.2453C= (p.Pro818=)
22g.50720307C>GCA515258879SHANK3c.2075C>G (p.Pro692Arg)
n.2659C>G
c.1127C>G (p.Pro376Arg)
c.617C>G (p.Pro206Arg)
c.*1073C>G (n.*1073C>G)
c.2471C>G (p.Pro824Arg)
c.2453C>G (p.Pro818Arg)
22g.50720307C>TCA515258880SHANK3c.2075C>T (p.Pro692Leu)
n.2659C>T
c.1127C>T (p.Pro376Leu)
c.617C>T (p.Pro206Leu)
c.*1073C>T (n.*1073C>T)
c.2471C>T (p.Pro824Leu)
c.2453C>T (p.Pro818Leu)
 dbSNP 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=)

Number of alleles fetched