| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721407_50721409del | CA640359039 | SHANK3 | c.3175_3177del (p.Lys1059del) n.3759_3761del c.2227_2229del (p.Lys743del) c.1717_1719del (p.Lys573del) c.*2173_*2175del (n.*2173_*2175del) c.3571_3573del (p.Lys1191del) c.3553_3555del (p.Lys1185del) | dbSNP gnomAD v2 |
| 22 | g.50721409G>A | CA515262300 | SHANK3 | c.3177G>A (p.Lys1059=) n.3761G>A c.2229G>A (p.Lys743=) c.1719G>A (p.Lys573=) c.*2175G>A (n.*2175G>A) c.3573G>A (p.Lys1191=) c.3555G>A (p.Lys1185=) | |
| 22 | g.50721409G>C | CA10326075 | SHANK3 | c.3177G>C (p.Lys1059Asn) n.3761G>C c.2229G>C (p.Lys743Asn) c.1719G>C (p.Lys573Asn) c.*2175G>C (n.*2175G>C) c.3573G>C (p.Lys1191Asn) c.3555G>C (p.Lys1185Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721409G= | CA2411008223 | SHANK3 | c.3177G= (p.Lys1059=) n.3761G= c.2229G= (p.Lys743=) c.1719G= (p.Lys573=) c.*2175G= (n.*2175G=) c.3573G= (p.Lys1191=) c.3555G= (p.Lys1185=) | |
| 22 | g.50721409G>T | CA515262301 | SHANK3 | c.3177G>T (p.Lys1059Asn) n.3761G>T c.2229G>T (p.Lys743Asn) c.1719G>T (p.Lys573Asn) c.*2175G>T (n.*2175G>T) c.3573G>T (p.Lys1191Asn) c.3555G>T (p.Lys1185Asn) | |
| 22 | g.50721410T>A | CA515262302 | SHANK3 | c.3178T>A (p.Ser1060Thr) n.3762T>A c.2230T>A (p.Ser744Thr) c.1720T>A (p.Ser574Thr) c.*2176T>A (n.*2176T>A) c.3574T>A (p.Ser1192Thr) c.3556T>A (p.Ser1186Thr) | |
| 22 | g.50721410T>C | CA515262303 | SHANK3 | c.3178T>C (p.Ser1060Pro) n.3762T>C c.2230T>C (p.Ser744Pro) c.1720T>C (p.Ser574Pro) c.*2176T>C (n.*2176T>C) c.3574T>C (p.Ser1192Pro) c.3556T>C (p.Ser1186Pro) | |
| 22 | g.50721410T>G | CA515262304 | SHANK3 | c.3178T>G (p.Ser1060Ala) n.3762T>G c.2230T>G (p.Ser744Ala) c.1720T>G (p.Ser574Ala) c.*2176T>G (n.*2176T>G) c.3574T>G (p.Ser1192Ala) c.3556T>G (p.Ser1186Ala) | |
| 22 | g.50721411C>A | CA515262305 | SHANK3 | c.3179C>A (p.Ser1060Tyr) n.3763C>A c.2231C>A (p.Ser744Tyr) c.1721C>A (p.Ser574Tyr) c.*2177C>A (n.*2177C>A) c.3575C>A (p.Ser1192Tyr) c.3557C>A (p.Ser1186Tyr) | |
| 22 | g.50721411C>G | CA515262307 | SHANK3 | c.3179C>G (p.Ser1060Cys) n.3763C>G c.2231C>G (p.Ser744Cys) c.1721C>G (p.Ser574Cys) c.*2177C>G (n.*2177C>G) c.3575C>G (p.Ser1192Cys) c.3557C>G (p.Ser1186Cys) | |
| 22 | g.50721411C>T | CA515262306 | SHANK3 | c.3179C>T (p.Ser1060Phe) n.3763C>T c.2231C>T (p.Ser744Phe) c.1721C>T (p.Ser574Phe) c.*2177C>T (n.*2177C>T) c.3575C>T (p.Ser1192Phe) c.3557C>T (p.Ser1186Phe) | |
| 22 | g.50721412C>A | CA515262308 | SHANK3 | c.3180C>A (p.Ser1060=) n.3764C>A c.2232C>A (p.Ser744=) c.1722C>A (p.Ser574=) c.*2178C>A (n.*2178C>A) c.3576C>A (p.Ser1192=) c.3558C>A (p.Ser1186=) | |
| 22 | g.50721412C>G | CA515262309 | SHANK3 | c.3180C>G (p.Ser1060=) n.3764C>G c.2232C>G (p.Ser744=) c.1722C>G (p.Ser574=) c.*2178C>G (n.*2178C>G) c.3576C>G (p.Ser1192=) c.3558C>G (p.Ser1186=) | |
| 22 | g.50721412C>T | CA515262311 | SHANK3 | c.3180C>T (p.Ser1060=) n.3764C>T c.2232C>T (p.Ser744=) c.1722C>T (p.Ser574=) c.*2178C>T (n.*2178C>T) c.3576C>T (p.Ser1192=) c.3558C>T (p.Ser1186=) | gnomAD v4 |
| 22 | g.50721413A= | CA2411008224 | SHANK3 | c.3181A= (p.Met1061=) n.3765A= c.2233A= (p.Met745=) c.1723A= (p.Met575=) c.*2179A= (n.*2179A=) c.3577A= (p.Met1193=) c.3559A= (p.Met1187=) | |
| 22 | g.50721413A>C | CA515262312 | SHANK3 | c.3181A>C (p.Met1061Leu) n.3765A>C c.2233A>C (p.Met745Leu) c.1723A>C (p.Met575Leu) c.*2179A>C (n.*2179A>C) c.3577A>C (p.Met1193Leu) c.3559A>C (p.Met1187Leu) | |
| 22 | g.50721413A>G | CA10326076 | SHANK3 | c.3181A>G (p.Met1061Val) n.3765A>G c.2233A>G (p.Met745Val) c.1723A>G (p.Met575Val) c.*2179A>G (n.*2179A>G) c.3577A>G (p.Met1193Val) c.3559A>G (p.Met1187Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721413A>T | CA515262314 | SHANK3 | c.3181A>T (p.Met1061Leu) n.3765A>T c.2233A>T (p.Met745Leu) c.1723A>T (p.Met575Leu) c.*2179A>T (n.*2179A>T) c.3577A>T (p.Met1193Leu) c.3559A>T (p.Met1187Leu) | |
| 22 | g.50721414T>A | CA515262316 | SHANK3 | c.3182T>A (p.Met1061Lys) n.3766T>A c.2234T>A (p.Met745Lys) c.1724T>A (p.Met575Lys) c.*2180T>A (n.*2180T>A) c.3578T>A (p.Met1193Lys) c.3560T>A (p.Met1187Lys) | |
| 22 | g.50721414T>C | CA205748 | SHANK3 | c.3182T>C (p.Met1061Thr) n.3766T>C c.2234T>C (p.Met745Thr) c.1724T>C (p.Met575Thr) c.*2180T>C (n.*2180T>C) c.3578T>C (p.Met1193Thr) c.3560T>C (p.Met1187Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721414T>G | CA515262315 | SHANK3 | c.3182T>G (p.Met1061Arg) n.3766T>G c.2234T>G (p.Met745Arg) c.1724T>G (p.Met575Arg) c.*2180T>G (n.*2180T>G) c.3578T>G (p.Met1193Arg) c.3560T>G (p.Met1187Arg) | |
| 22 | g.50721414T= | CA2411008225 | SHANK3 | c.3182T= (p.Met1061=) n.3766T= c.2234T= (p.Met745=) c.1724T= (p.Met575=) c.*2180T= (n.*2180T=) c.3578T= (p.Met1193=) c.3560T= (p.Met1187=) | |
| 22 | g.50721415G>A | CA515262318 | SHANK3 | c.3183G>A (p.Met1061Ile) n.3767G>A c.2235G>A (p.Met745Ile) c.1725G>A (p.Met575Ile) c.*2181G>A (n.*2181G>A) c.3579G>A (p.Met1193Ile) c.3561G>A (p.Met1187Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721415G>C | CA515262319 | SHANK3 | c.3183G>C (p.Met1061Ile) n.3767G>C c.2235G>C (p.Met745Ile) c.1725G>C (p.Met575Ile) c.*2181G>C (n.*2181G>C) c.3579G>C (p.Met1193Ile) c.3561G>C (p.Met1187Ile) | |
| 22 | g.50721415G= | CA2411008226 | SHANK3 | c.3183G= (p.Met1061=) n.3767G= c.2235G= (p.Met745=) c.1725G= (p.Met575=) c.*2181G= (n.*2181G=) c.3579G= (p.Met1193=) c.3561G= (p.Met1187=) | |
| 22 | g.50721415G>T | CA515262320 | SHANK3 | c.3183G>T (p.Met1061Ile) n.3767G>T c.2235G>T (p.Met745Ile) c.1725G>T (p.Met575Ile) c.*2181G>T (n.*2181G>T) c.3579G>T (p.Met1193Ile) c.3561G>T (p.Met1187Ile) | |
| 22 | g.50721416A= | CA2411008227 | SHANK3 | c.3184A= (p.Ile1062=) n.3768A= c.2236A= (p.Ile746=) c.1726A= (p.Ile576=) c.*2182A= (n.*2182A=) c.3580A= (p.Ile1194=) c.3562A= (p.Ile1188=) | |
| 22 | g.50721416A>C | CA515262321 | SHANK3 | c.3184A>C (p.Ile1062Leu) n.3768A>C c.2236A>C (p.Ile746Leu) c.1726A>C (p.Ile576Leu) c.*2182A>C (n.*2182A>C) c.3580A>C (p.Ile1194Leu) c.3562A>C (p.Ile1188Leu) | |
| 22 | g.50721416A>G | CA10326077 | SHANK3 | c.3184A>G (p.Ile1062Val) n.3768A>G c.2236A>G (p.Ile746Val) c.1726A>G (p.Ile576Val) c.*2182A>G (n.*2182A>G) c.3580A>G (p.Ile1194Val) c.3562A>G (p.Ile1188Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721416A>T | CA515262324 | SHANK3 | c.3184A>T (p.Ile1062Phe) n.3768A>T c.2236A>T (p.Ile746Phe) c.1726A>T (p.Ile576Phe) c.*2182A>T (n.*2182A>T) c.3580A>T (p.Ile1194Phe) c.3562A>T (p.Ile1188Phe) | |
| 22 | g.50721417T>A | CA515262326 | SHANK3 | c.3185T>A (p.Ile1062Asn) n.3769T>A c.2237T>A (p.Ile746Asn) c.1727T>A (p.Ile576Asn) c.*2183T>A (n.*2183T>A) c.3581T>A (p.Ile1194Asn) c.3563T>A (p.Ile1188Asn) | |
| 22 | g.50721417T>C | CA515262328 | SHANK3 | c.3185T>C (p.Ile1062Thr) n.3769T>C c.2237T>C (p.Ile746Thr) c.1727T>C (p.Ile576Thr) c.*2183T>C (n.*2183T>C) c.3581T>C (p.Ile1194Thr) c.3563T>C (p.Ile1188Thr) | |
| 22 | g.50721417T>G | CA515262327 | SHANK3 | c.3185T>G (p.Ile1062Ser) n.3769T>G c.2237T>G (p.Ile746Ser) c.1727T>G (p.Ile576Ser) c.*2183T>G (n.*2183T>G) c.3581T>G (p.Ile1194Ser) c.3563T>G (p.Ile1188Ser) | |
| 22 | g.50721418C>A | CA515262329 | SHANK3 | c.3186C>A (p.Ile1062=) n.3770C>A c.2238C>A (p.Ile746=) c.1728C>A (p.Ile576=) c.*2184C>A (n.*2184C>A) c.3582C>A (p.Ile1194=) c.3564C>A (p.Ile1188=) | dbSNP |
| 22 | g.50721418C= | CA2411008228 | SHANK3 | c.3186C= (p.Ile1062=) n.3770C= c.2238C= (p.Ile746=) c.1728C= (p.Ile576=) c.*2184C= (n.*2184C=) c.3582C= (p.Ile1194=) c.3564C= (p.Ile1188=) | |
| 22 | g.50721418C>G | CA515262330 | SHANK3 | c.3186C>G (p.Ile1062Met) n.3770C>G c.2238C>G (p.Ile746Met) c.1728C>G (p.Ile576Met) c.*2184C>G (n.*2184C>G) c.3582C>G (p.Ile1194Met) c.3564C>G (p.Ile1188Met) | gnomAD v4 |
| 22 | g.50721418C>T | CA10326078 | SHANK3 | c.3186C>T (p.Ile1062=) n.3770C>T c.2238C>T (p.Ile746=) c.1728C>T (p.Ile576=) c.*2184C>T (n.*2184C>T) c.3582C>T (p.Ile1194=) c.3564C>T (p.Ile1188=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721419C>A | CA515262331 | SHANK3 | c.3187C>A (p.Leu1063Ile) n.3771C>A c.2239C>A (p.Leu747Ile) c.1729C>A (p.Leu577Ile) c.*2185C>A (n.*2185C>A) c.3583C>A (p.Leu1195Ile) c.3565C>A (p.Leu1189Ile) | |
| 22 | g.50721419C= | CA2411008229 | SHANK3 | c.3187C= (p.Leu1063=) n.3771C= c.2239C= (p.Leu747=) c.1729C= (p.Leu577=) c.*2185C= (n.*2185C=) c.3583C= (p.Leu1195=) c.3565C= (p.Leu1189=) | |
| 22 | g.50721419C>G | CA515262332 | SHANK3 | c.3187C>G (p.Leu1063Val) n.3771C>G c.2239C>G (p.Leu747Val) c.1729C>G (p.Leu577Val) c.*2185C>G (n.*2185C>G) c.3583C>G (p.Leu1195Val) c.3565C>G (p.Leu1189Val) | |
| 22 | g.50721419C>T | CA515262333 | SHANK3 | c.3187C>T (p.Leu1063Phe) n.3771C>T c.2239C>T (p.Leu747Phe) c.1729C>T (p.Leu577Phe) c.*2185C>T (n.*2185C>T) c.3583C>T (p.Leu1195Phe) c.3565C>T (p.Leu1189Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721420T>A | CA515262334 | SHANK3 | c.3188T>A (p.Leu1063His) n.3772T>A c.2240T>A (p.Leu747His) c.1730T>A (p.Leu577His) c.*2186T>A (n.*2186T>A) c.3584T>A (p.Leu1195His) c.3566T>A (p.Leu1189His) | |
| 22 | g.50721420T>C | CA515262335 | SHANK3 | c.3188T>C (p.Leu1063Pro) n.3772T>C c.2240T>C (p.Leu747Pro) c.1730T>C (p.Leu577Pro) c.*2186T>C (n.*2186T>C) c.3584T>C (p.Leu1195Pro) c.3566T>C (p.Leu1189Pro) | |
| 22 | g.50721420T>G | CA515262336 | SHANK3 | c.3188T>G (p.Leu1063Arg) n.3772T>G c.2240T>G (p.Leu747Arg) c.1730T>G (p.Leu577Arg) c.*2186T>G (n.*2186T>G) c.3584T>G (p.Leu1195Arg) c.3566T>G (p.Leu1189Arg) | |
| 22 | g.50721421C>A | CA515262337 | SHANK3 | c.3189C>A (p.Leu1063=) n.3773C>A c.2241C>A (p.Leu747=) c.1731C>A (p.Leu577=) c.*2187C>A (n.*2187C>A) c.3585C>A (p.Leu1195=) c.3567C>A (p.Leu1189=) | dbSNP gnomAD v2 |
| 22 | g.50721421C= | CA2411008230 | SHANK3 | c.3189C= (p.Leu1063=) n.3773C= c.2241C= (p.Leu747=) c.1731C= (p.Leu577=) c.*2187C= (n.*2187C=) c.3585C= (p.Leu1195=) c.3567C= (p.Leu1189=) | |
| 22 | g.50721421C>G | CA515262338 | SHANK3 | c.3189C>G (p.Leu1063=) n.3773C>G c.2241C>G (p.Leu747=) c.1731C>G (p.Leu577=) c.*2187C>G (n.*2187C>G) c.3585C>G (p.Leu1195=) c.3567C>G (p.Leu1189=) | |
| 22 | g.50721421C>T | CA515262339 | SHANK3 | c.3189C>T (p.Leu1063=) n.3773C>T c.2241C>T (p.Leu747=) c.1731C>T (p.Leu577=) c.*2187C>T (n.*2187C>T) c.3585C>T (p.Leu1195=) c.3567C>T (p.Leu1189=) | gnomAD v4 |
| 22 | g.50721422A>C | CA515262340 | SHANK3 | c.3190A>C (p.Ser1064Arg) n.3774A>C c.2242A>C (p.Ser748Arg) c.1732A>C (p.Ser578Arg) c.*2188A>C (n.*2188A>C) c.3586A>C (p.Ser1196Arg) c.3568A>C (p.Ser1190Arg) | gnomAD v4 |
| 22 | g.50721422A>G | CA515262344 | SHANK3 | c.3190A>G (p.Ser1064Gly) n.3774A>G c.2242A>G (p.Ser748Gly) c.1732A>G (p.Ser578Gly) c.*2188A>G (n.*2188A>G) c.3586A>G (p.Ser1196Gly) c.3568A>G (p.Ser1190Gly) | gnomAD v4 |
| 22 | g.50721422A>T | CA515262342 | SHANK3 | c.3190A>T (p.Ser1064Cys) n.3774A>T c.2242A>T (p.Ser748Cys) c.1732A>T (p.Ser578Cys) c.*2188A>T (n.*2188A>T) c.3586A>T (p.Ser1196Cys) c.3568A>T (p.Ser1190Cys) | |
| 22 | g.50721423G>A | CA515262345 | SHANK3 | c.3191G>A (p.Ser1064Asn) n.3775G>A c.2243G>A (p.Ser748Asn) c.1733G>A (p.Ser578Asn) c.*2189G>A (n.*2189G>A) c.3587G>A (p.Ser1196Asn) c.3569G>A (p.Ser1190Asn) | |
| 22 | g.50721423G>C | CA515262347 | SHANK3 | c.3191G>C (p.Ser1064Thr) n.3775G>C c.2243G>C (p.Ser748Thr) c.1733G>C (p.Ser578Thr) c.*2189G>C (n.*2189G>C) c.3587G>C (p.Ser1196Thr) c.3569G>C (p.Ser1190Thr) | |
| 22 | g.50721423G>T | CA515262348 | SHANK3 | c.3191G>T (p.Ser1064Ile) n.3775G>T c.2243G>T (p.Ser748Ile) c.1733G>T (p.Ser578Ile) c.*2189G>T (n.*2189G>T) c.3587G>T (p.Ser1196Ile) c.3569G>T (p.Ser1190Ile) | |
| 22 | g.50721424C>A | CA515262349 | SHANK3 | c.3192C>A (p.Ser1064Arg) n.3776C>A c.2244C>A (p.Ser748Arg) c.1734C>A (p.Ser578Arg) c.*2190C>A (n.*2190C>A) c.3588C>A (p.Ser1196Arg) c.3570C>A (p.Ser1190Arg) | |
| 22 | g.50721424C= | CA2411008231 | SHANK3 | c.3192C= (p.Ser1064=) n.3776C= c.2244C= (p.Ser748=) c.1734C= (p.Ser578=) c.*2190C= (n.*2190C=) c.3588C= (p.Ser1196=) c.3570C= (p.Ser1190=) | |
| 22 | g.50721424C>G | CA515262350 | SHANK3 | c.3192C>G (p.Ser1064Arg) n.3776C>G c.2244C>G (p.Ser748Arg) c.1734C>G (p.Ser578Arg) c.*2190C>G (n.*2190C>G) c.3588C>G (p.Ser1196Arg) c.3570C>G (p.Ser1190Arg) | |
| 22 | g.50721424C>T | CA10326079 | SHANK3 | c.3192C>T (p.Ser1064=) n.3776C>T c.2244C>T (p.Ser748=) c.1734C>T (p.Ser578=) c.*2190C>T (n.*2190C>T) c.3588C>T (p.Ser1196=) c.3570C>T (p.Ser1190=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721425G>A | CA515262351 | SHANK3 | c.3193G>A (p.Val1065Ile) n.3777G>A c.2245G>A (p.Val749Ile) c.1735G>A (p.Val579Ile) c.*2191G>A (n.*2191G>A) c.3589G>A (p.Val1197Ile) c.3571G>A (p.Val1191Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721425G>C | CA515262352 | SHANK3 | c.3193G>C (p.Val1065Leu) n.3777G>C c.2245G>C (p.Val749Leu) c.1735G>C (p.Val579Leu) c.*2191G>C (n.*2191G>C) c.3589G>C (p.Val1197Leu) c.3571G>C (p.Val1191Leu) | gnomAD v4 |
| 22 | g.50721425G= | CA2411008232 | SHANK3 | c.3193G= (p.Val1065=) n.3777G= c.2245G= (p.Val749=) c.1735G= (p.Val579=) c.*2191G= (n.*2191G=) c.3589G= (p.Val1197=) c.3571G= (p.Val1191=) | |
| 22 | g.50721425G>T | CA515262353 | SHANK3 | c.3193G>T (p.Val1065Phe) n.3777G>T c.2245G>T (p.Val749Phe) c.1735G>T (p.Val579Phe) c.*2191G>T (n.*2191G>T) c.3589G>T (p.Val1197Phe) c.3571G>T (p.Val1191Phe) | |
| 22 | g.50721426T>A | CA515262354 | SHANK3 | c.3194T>A (p.Val1065Asp) n.3778T>A c.2246T>A (p.Val749Asp) c.1736T>A (p.Val579Asp) c.*2192T>A (n.*2192T>A) c.3590T>A (p.Val1197Asp) c.3572T>A (p.Val1191Asp) | |
| 22 | g.50721426T>C | CA515262355 | SHANK3 | c.3194T>C (p.Val1065Ala) n.3778T>C c.2246T>C (p.Val749Ala) c.1736T>C (p.Val579Ala) c.*2192T>C (n.*2192T>C) c.3590T>C (p.Val1197Ala) c.3572T>C (p.Val1191Ala) | |
| 22 | g.50721426T>G | CA515262357 | SHANK3 | c.3194T>G (p.Val1065Gly) n.3778T>G c.2246T>G (p.Val749Gly) c.1736T>G (p.Val579Gly) c.*2192T>G (n.*2192T>G) c.3590T>G (p.Val1197Gly) c.3572T>G (p.Val1191Gly) | |
| 22 | g.50721427C>A | CA515262359 | SHANK3 | c.3195C>A (p.Val1065=) n.3779C>A c.2247C>A (p.Val749=) c.1737C>A (p.Val579=) c.*2193C>A (n.*2193C>A) c.3591C>A (p.Val1197=) c.3573C>A (p.Val1191=) | |
| 22 | g.50721427C= | CA2411008233 | SHANK3 | c.3195C= (p.Val1065=) n.3779C= c.2247C= (p.Val749=) c.1737C= (p.Val579=) c.*2193C= (n.*2193C=) c.3591C= (p.Val1197=) c.3573C= (p.Val1191=) | |
| 22 | g.50721427C>G | CA515262358 | SHANK3 | c.3195C>G (p.Val1065=) n.3779C>G c.2247C>G (p.Val749=) c.1737C>G (p.Val579=) c.*2193C>G (n.*2193C>G) c.3591C>G (p.Val1197=) c.3573C>G (p.Val1191=) | |
| 22 | g.50721427C>T | CA10326080 | SHANK3 | c.3195C>T (p.Val1065=) n.3779C>T c.2247C>T (p.Val749=) c.1737C>T (p.Val579=) c.*2193C>T (n.*2193C>T) c.3591C>T (p.Val1197=) c.3573C>T (p.Val1191=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721428C>A | CA515262360 | SHANK3 | c.3196C>A (p.Leu1066Met) n.3780C>A c.2248C>A (p.Leu750Met) c.1738C>A (p.Leu580Met) c.*2194C>A (n.*2194C>A) c.3592C>A (p.Leu1198Met) c.3574C>A (p.Leu1192Met) | |
| 22 | g.50721428C= | CA2411008234 | SHANK3 | c.3196C= (p.Leu1066=) n.3780C= c.2248C= (p.Leu750=) c.1738C= (p.Leu580=) c.*2194C= (n.*2194C=) c.3592C= (p.Leu1198=) c.3574C= (p.Leu1192=) | |
| 22 | g.50721428C>G | CA515262361 | SHANK3 | c.3196C>G (p.Leu1066Val) n.3780C>G c.2248C>G (p.Leu750Val) c.1738C>G (p.Leu580Val) c.*2194C>G (n.*2194C>G) c.3592C>G (p.Leu1198Val) c.3574C>G (p.Leu1192Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721428C>T | CA515262362 | SHANK3 | c.3196C>T (p.Leu1066=) n.3780C>T c.2248C>T (p.Leu750=) c.1738C>T (p.Leu580=) c.*2194C>T (n.*2194C>T) c.3592C>T (p.Leu1198=) c.3574C>T (p.Leu1192=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721429T>A | CA515262363 | SHANK3 | c.3197T>A (p.Leu1066Gln) n.3781T>A c.2249T>A (p.Leu750Gln) c.1739T>A (p.Leu580Gln) c.*2195T>A (n.*2195T>A) c.3593T>A (p.Leu1198Gln) c.3575T>A (p.Leu1192Gln) | |
| 22 | g.50721429T>C | CA515262364 | SHANK3 | c.3197T>C (p.Leu1066Pro) n.3781T>C c.2249T>C (p.Leu750Pro) c.1739T>C (p.Leu580Pro) c.*2195T>C (n.*2195T>C) c.3593T>C (p.Leu1198Pro) c.3575T>C (p.Leu1192Pro) | |
| 22 | g.50721429T>G | CA515262366 | SHANK3 | c.3197T>G (p.Leu1066Arg) n.3781T>G c.2249T>G (p.Leu750Arg) c.1739T>G (p.Leu580Arg) c.*2195T>G (n.*2195T>G) c.3593T>G (p.Leu1198Arg) c.3575T>G (p.Leu1192Arg) | |
| 22 | g.50721430G>A | CA515262369 | SHANK3 | c.3198G>A (p.Leu1066=) n.3782G>A c.2250G>A (p.Leu750=) c.1740G>A (p.Leu580=) c.*2196G>A (n.*2196G>A) c.3594G>A (p.Leu1198=) c.3576G>A (p.Leu1192=) | dbSNP |
| 22 | g.50721430G>C | CA515262371 | SHANK3 | c.3198G>C (p.Leu1066=) n.3782G>C c.2250G>C (p.Leu750=) c.1740G>C (p.Leu580=) c.*2196G>C (n.*2196G>C) c.3594G>C (p.Leu1198=) c.3576G>C (p.Leu1192=) | |
| 22 | g.50721430G= | CA2411008235 | SHANK3 | c.3198G= (p.Leu1066=) n.3782G= c.2250G= (p.Leu750=) c.1740G= (p.Leu580=) c.*2196G= (n.*2196G=) c.3594G= (p.Leu1198=) c.3576G= (p.Leu1192=) | |
| 22 | g.50721430G>T | CA515262373 | SHANK3 | c.3198G>T (p.Leu1066=) n.3782G>T c.2250G>T (p.Leu750=) c.1740G>T (p.Leu580=) c.*2196G>T (n.*2196G>T) c.3594G>T (p.Leu1198=) c.3576G>T (p.Leu1192=) | |
| 22 | g.50721431G>A | CA515262374 | SHANK3 | c.3199G>A (p.Asp1067Asn) n.3783G>A c.2251G>A (p.Asp751Asn) c.1741G>A (p.Asp581Asn) c.*2197G>A (n.*2197G>A) c.3595G>A (p.Asp1199Asn) c.3577G>A (p.Asp1193Asn) | gnomAD v4 |
| 22 | g.50721431G>C | CA515262375 | SHANK3 | c.3199G>C (p.Asp1067His) n.3783G>C c.2251G>C (p.Asp751His) c.1741G>C (p.Asp581His) c.*2197G>C (n.*2197G>C) c.3595G>C (p.Asp1199His) c.3577G>C (p.Asp1193His) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721431G= | CA2411008236 | SHANK3 | c.3199G= (p.Asp1067=) n.3783G= c.2251G= (p.Asp751=) c.1741G= (p.Asp581=) c.*2197G= (n.*2197G=) c.3595G= (p.Asp1199=) c.3577G= (p.Asp1193=) | |
| 22 | g.50721431G>T | CA515262376 | SHANK3 | c.3199G>T (p.Asp1067Tyr) n.3783G>T c.2251G>T (p.Asp751Tyr) c.1741G>T (p.Asp581Tyr) c.*2197G>T (n.*2197G>T) c.3595G>T (p.Asp1199Tyr) c.3577G>T (p.Asp1193Tyr) | |
| 22 | g.50721432A>C | CA515262377 | SHANK3 | c.3200A>C (p.Asp1067Ala) n.3784A>C c.2252A>C (p.Asp751Ala) c.1742A>C (p.Asp581Ala) c.*2198A>C (n.*2198A>C) c.3596A>C (p.Asp1199Ala) c.3578A>C (p.Asp1193Ala) | |
| 22 | g.50721432A>G | CA515262381 | SHANK3 | c.3200A>G (p.Asp1067Gly) n.3784A>G c.2252A>G (p.Asp751Gly) c.1742A>G (p.Asp581Gly) c.*2198A>G (n.*2198A>G) c.3596A>G (p.Asp1199Gly) c.3578A>G (p.Asp1193Gly) | gnomAD v4 |
| 22 | g.50721432A>T | CA515262380 | SHANK3 | c.3200A>T (p.Asp1067Val) n.3784A>T c.2252A>T (p.Asp751Val) c.1742A>T (p.Asp581Val) c.*2198A>T (n.*2198A>T) c.3596A>T (p.Asp1199Val) c.3578A>T (p.Asp1193Val) | |
| 22 | g.50721433C>A | CA515262382 | SHANK3 | c.3201C>A (p.Asp1067Glu) n.3785C>A c.2253C>A (p.Asp751Glu) c.1743C>A (p.Asp581Glu) c.*2199C>A (n.*2199C>A) c.3597C>A (p.Asp1199Glu) c.3579C>A (p.Asp1193Glu) | |
| 22 | g.50721433C= | CA2411008237 | SHANK3 | c.3201C= (p.Asp1067=) n.3785C= c.2253C= (p.Asp751=) c.1743C= (p.Asp581=) c.*2199C= (n.*2199C=) c.3597C= (p.Asp1199=) c.3579C= (p.Asp1193=) | |
| 22 | g.50721433C>G | CA515262384 | SHANK3 | c.3201C>G (p.Asp1067Glu) n.3785C>G c.2253C>G (p.Asp751Glu) c.1743C>G (p.Asp581Glu) c.*2199C>G (n.*2199C>G) c.3597C>G (p.Asp1199Glu) c.3579C>G (p.Asp1193Glu) | |
| 22 | g.50721433C>T | CA325579208 | SHANK3 | c.3201C>T (p.Asp1067=) n.3785C>T c.2253C>T (p.Asp751=) c.1743C>T (p.Asp581=) c.*2199C>T (n.*2199C>T) c.3597C>T (p.Asp1199=) c.3579C>T (p.Asp1193=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721433_50721434insGCTGC | CA2657580871 | SHANK3 | c.3201_3202insGCTGC (p.Thr1068AlafsTer?) n.3785_3786insGCTGC c.2253_2254insGCTGC (p.Thr752AlafsTer?) c.1743_1744insGCTGC (p.Thr582AlafsTer?) c.*2199_*2200insGCTGC (n.*2199_*2200insGCTGC) c.3597_3598insGCTGC (p.Thr1200AlafsTer?) c.3579_3580insGCTGC (p.Thr1194AlafsTer?) | gnomAD v4 |
| 22 | g.50721434A>C | CA515262386 | SHANK3 | c.3202A>C (p.Thr1068Pro) n.3786A>C c.2254A>C (p.Thr752Pro) c.1744A>C (p.Thr582Pro) c.*2200A>C (n.*2200A>C) c.3598A>C (p.Thr1200Pro) c.3580A>C (p.Thr1194Pro) | |
| 22 | g.50721434A>G | CA515262391 | SHANK3 | c.3202A>G (p.Thr1068Ala) n.3786A>G c.2254A>G (p.Thr752Ala) c.1744A>G (p.Thr582Ala) c.*2200A>G (n.*2200A>G) c.3598A>G (p.Thr1200Ala) c.3580A>G (p.Thr1194Ala) | gnomAD v4 |
| 22 | g.50721434A>T | CA515262388 | SHANK3 | c.3202A>T (p.Thr1068Ser) n.3786A>T c.2254A>T (p.Thr752Ser) c.1744A>T (p.Thr582Ser) c.*2200A>T (n.*2200A>T) c.3598A>T (p.Thr1200Ser) c.3580A>T (p.Thr1194Ser) | |
| 22 | g.50721434_50721435insG | CA2657580880 | SHANK3 | c.3202_3203insG (p.Thr1068SerfsTer?) n.3786_3787insG c.2254_2255insG (p.Thr752SerfsTer?) c.1744_1745insG (p.Thr582SerfsTer?) c.*2200_*2201insG (n.*2200_*2201insG) c.3598_3599insG (p.Thr1200SerfsTer?) c.3580_3581insG (p.Thr1194SerfsTer?) | gnomAD v4 |
| 22 | g.50721435C>A | CA515262392 | SHANK3 | c.3203C>A (p.Thr1068Lys) n.3787C>A c.2255C>A (p.Thr752Lys) c.1745C>A (p.Thr582Lys) c.*2201C>A (n.*2201C>A) c.3599C>A (p.Thr1200Lys) c.3581C>A (p.Thr1194Lys) | gnomAD v4 |
| 22 | g.50721435C>G | CA515262393 | SHANK3 | c.3203C>G (p.Thr1068Arg) n.3787C>G c.2255C>G (p.Thr752Arg) c.1745C>G (p.Thr582Arg) c.*2201C>G (n.*2201C>G) c.3599C>G (p.Thr1200Arg) c.3581C>G (p.Thr1194Arg) | |
| 22 | g.50721435C>T | CA515262394 | SHANK3 | c.3203C>T (p.Thr1068Ile) n.3787C>T c.2255C>T (p.Thr752Ile) c.1745C>T (p.Thr582Ile) c.*2201C>T (n.*2201C>T) c.3599C>T (p.Thr1200Ile) c.3581C>T (p.Thr1194Ile) | |
| 22 | g.50721436A= | CA2411008238 | SHANK3 | c.3204A= (p.Thr1068=) n.3788A= c.2256A= (p.Thr752=) c.1746A= (p.Thr582=) c.*2202A= (n.*2202A=) c.3600A= (p.Thr1200=) c.3582A= (p.Thr1194=) | |
| 22 | g.50721436A>C | CA515262395 | SHANK3 | c.3204A>C (p.Thr1068=) n.3788A>C c.2256A>C (p.Thr752=) c.1746A>C (p.Thr582=) c.*2202A>C (n.*2202A>C) c.3600A>C (p.Thr1200=) c.3582A>C (p.Thr1194=) | |
| 22 | g.50721436A>G | CA515262397 | SHANK3 | c.3204A>G (p.Thr1068=) n.3788A>G c.2256A>G (p.Thr752=) c.1746A>G (p.Thr582=) c.*2202A>G (n.*2202A>G) c.3600A>G (p.Thr1200=) c.3582A>G (p.Thr1194=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721436A>T | CA515262398 | SHANK3 | c.3204A>T (p.Thr1068=) n.3788A>T c.2256A>T (p.Thr752=) c.1746A>T (p.Thr582=) c.*2202A>T (n.*2202A>T) c.3600A>T (p.Thr1200=) c.3582A>T (p.Thr1194=) | |
| 22 | g.50721437T>A | CA515262400 | SHANK3 | c.3205T>A (p.Ser1069Thr) n.3789T>A c.2257T>A (p.Ser753Thr) c.1747T>A (p.Ser583Thr) c.*2203T>A (n.*2203T>A) c.3601T>A (p.Ser1201Thr) c.3583T>A (p.Ser1195Thr) | |
| 22 | g.50721437T>C | CA515262403 | SHANK3 | c.3205T>C (p.Ser1069Pro) n.3789T>C c.2257T>C (p.Ser753Pro) c.1747T>C (p.Ser583Pro) c.*2203T>C (n.*2203T>C) c.3601T>C (p.Ser1201Pro) c.3583T>C (p.Ser1195Pro) | |
| 22 | g.50721437T>G | CA515262405 | SHANK3 | c.3205T>G (p.Ser1069Ala) n.3789T>G c.2257T>G (p.Ser753Ala) c.1747T>G (p.Ser583Ala) c.*2203T>G (n.*2203T>G) c.3601T>G (p.Ser1201Ala) c.3583T>G (p.Ser1195Ala) | |
| 22 | g.50721438C>A | CA515262407 | SHANK3 | c.3206C>A (p.Ser1069Tyr) n.3790C>A c.2258C>A (p.Ser753Tyr) c.1748C>A (p.Ser583Tyr) c.*2204C>A (n.*2204C>A) c.3602C>A (p.Ser1201Tyr) c.3584C>A (p.Ser1195Tyr) | |
| 22 | g.50721438C= | CA2411008239 | SHANK3 | c.3206C= (p.Ser1069=) n.3790C= c.2258C= (p.Ser753=) c.1748C= (p.Ser583=) c.*2204C= (n.*2204C=) c.3602C= (p.Ser1201=) c.3584C= (p.Ser1195=) | |
| 22 | g.50721438C>G | CA325579213 | SHANK3 | c.3206C>G (p.Ser1069Cys) n.3790C>G c.2258C>G (p.Ser753Cys) c.1748C>G (p.Ser583Cys) c.*2204C>G (n.*2204C>G) c.3602C>G (p.Ser1201Cys) c.3584C>G (p.Ser1195Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721438C>T | CA515262408 | SHANK3 | c.3206C>T (p.Ser1069Phe) n.3790C>T c.2258C>T (p.Ser753Phe) c.1748C>T (p.Ser583Phe) c.*2204C>T (n.*2204C>T) c.3602C>T (p.Ser1201Phe) c.3584C>T (p.Ser1195Phe) | |
| 22 | g.50721439C>A | CA515262409 | SHANK3 | c.3207C>A (p.Ser1069=) n.3791C>A c.2259C>A (p.Ser753=) c.1749C>A (p.Ser583=) c.*2205C>A (n.*2205C>A) c.3603C>A (p.Ser1201=) c.3585C>A (p.Ser1195=) | |
| 22 | g.50721439C= | CA2411008240 | SHANK3 | c.3207C= (p.Ser1069=) n.3791C= c.2259C= (p.Ser753=) c.1749C= (p.Ser583=) c.*2205C= (n.*2205C=) c.3603C= (p.Ser1201=) c.3585C= (p.Ser1195=) | |
| 22 | g.50721439C>G | CA515262411 | SHANK3 | c.3207C>G (p.Ser1069=) n.3791C>G c.2259C>G (p.Ser753=) c.1749C>G (p.Ser583=) c.*2205C>G (n.*2205C>G) c.3603C>G (p.Ser1201=) c.3585C>G (p.Ser1195=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721439C>T | CA515262410 | SHANK3 | c.3207C>T (p.Ser1069=) n.3791C>T c.2259C>T (p.Ser753=) c.1749C>T (p.Ser583=) c.*2205C>T (n.*2205C>T) c.3603C>T (p.Ser1201=) c.3585C>T (p.Ser1195=) | dbSNP gnomAD v4 |
| 22 | g.50721440C>A | CA515262413 | SHANK3 | c.3208C>A (p.Leu1070Met) n.3792C>A c.2260C>A (p.Leu754Met) c.1750C>A (p.Leu584Met) c.*2206C>A (n.*2206C>A) c.3604C>A (p.Leu1202Met) c.3586C>A (p.Leu1196Met) | |
| 22 | g.50721440C= | CA2411008241 | SHANK3 | c.3208C= (p.Leu1070=) n.3792C= c.2260C= (p.Leu754=) c.1750C= (p.Leu584=) c.*2206C= (n.*2206C=) c.3604C= (p.Leu1202=) c.3586C= (p.Leu1196=) | |
| 22 | g.50721440C>G | CA515262415 | SHANK3 | c.3208C>G (p.Leu1070Val) n.3792C>G c.2260C>G (p.Leu754Val) c.1750C>G (p.Leu584Val) c.*2206C>G (n.*2206C>G) c.3604C>G (p.Leu1202Val) c.3586C>G (p.Leu1196Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721440C>T | CA10326081 | SHANK3 | c.3208C>T (p.Leu1070=) n.3792C>T c.2260C>T (p.Leu754=) c.1750C>T (p.Leu584=) c.*2206C>T (n.*2206C>T) c.3604C>T (p.Leu1202=) c.3586C>T (p.Leu1196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721441T>A | CA515262416 | SHANK3 | c.3209T>A (p.Leu1070Gln) n.3793T>A c.2261T>A (p.Leu754Gln) c.1751T>A (p.Leu584Gln) c.*2207T>A (n.*2207T>A) c.3605T>A (p.Leu1202Gln) c.3587T>A (p.Leu1196Gln) | |
| 22 | g.50721441T>C | CA515262418 | SHANK3 | c.3209T>C (p.Leu1070Pro) n.3793T>C c.2261T>C (p.Leu754Pro) c.1751T>C (p.Leu584Pro) c.*2207T>C (n.*2207T>C) c.3605T>C (p.Leu1202Pro) c.3587T>C (p.Leu1196Pro) | |
| 22 | g.50721441T>G | CA515262420 | SHANK3 | c.3209T>G (p.Leu1070Arg) n.3793T>G c.2261T>G (p.Leu754Arg) c.1751T>G (p.Leu584Arg) c.*2207T>G (n.*2207T>G) c.3605T>G (p.Leu1202Arg) c.3587T>G (p.Leu1196Arg) | |
| 22 | g.50721442G>A | CA515262422 | SHANK3 | c.3210G>A (p.Leu1070=) n.3794G>A c.2262G>A (p.Leu754=) c.1752G>A (p.Leu584=) c.*2208G>A (n.*2208G>A) c.3606G>A (p.Leu1202=) c.3588G>A (p.Leu1196=) | |
| 22 | g.50721442G>C | CA515262423 | SHANK3 | c.3210G>C (p.Leu1070=) n.3794G>C c.2262G>C (p.Leu754=) c.1752G>C (p.Leu584=) c.*2208G>C (n.*2208G>C) c.3606G>C (p.Leu1202=) c.3588G>C (p.Leu1196=) | |
| 22 | g.50721442G>T | CA515262424 | SHANK3 | c.3210G>T (p.Leu1070=) n.3794G>T c.2262G>T (p.Leu754=) c.1752G>T (p.Leu584=) c.*2208G>T (n.*2208G>T) c.3606G>T (p.Leu1202=) c.3588G>T (p.Leu1196=) | gnomAD v4 |
| 22 | g.50721443C>A | CA515262430 | SHANK3 | c.3211C>A (p.Gln1071Lys) n.3795C>A c.2263C>A (p.Gln755Lys) c.1753C>A (p.Gln585Lys) c.*2209C>A (n.*2209C>A) c.3607C>A (p.Gln1203Lys) c.3589C>A (p.Gln1197Lys) | |
| 22 | g.50721443C>G | CA515262428 | SHANK3 | c.3211C>G (p.Gln1071Glu) n.3795C>G c.2263C>G (p.Gln755Glu) c.1753C>G (p.Gln585Glu) c.*2209C>G (n.*2209C>G) c.3607C>G (p.Gln1203Glu) c.3589C>G (p.Gln1197Glu) | |
| 22 | g.50721443C>T | CA515262426 | SHANK3 | c.3211C>T (p.Gln1071Ter) n.3795C>T c.2263C>T (p.Gln755Ter) c.1753C>T (p.Gln585Ter) c.*2209C>T (n.*2209C>T) c.3607C>T (p.Gln1203Ter) c.3589C>T (p.Gln1197Ter) | |
| 22 | g.50721444del | CA2825002894 | SHANK3 | c.3212del (p.Gln1071ArgfsTer?) n.3796del c.2264del (p.Gln755ArgfsTer?) c.1754del (p.Gln585ArgfsTer?) c.*2210del (n.*2210del) c.3608del (p.Gln1203ArgfsTer?) c.3590del (p.Gln1197ArgfsTer?) | ClinVar |
| 22 | g.50721444A= | CA2411008242 | SHANK3 | c.3212A= (p.Gln1071=) n.3796A= c.2264A= (p.Gln755=) c.1754A= (p.Gln585=) c.*2210A= (n.*2210A=) c.3608A= (p.Gln1203=) c.3590A= (p.Gln1197=) | |
| 22 | g.50721444A>C | CA515262432 | SHANK3 | c.3212A>C (p.Gln1071Pro) n.3796A>C c.2264A>C (p.Gln755Pro) c.1754A>C (p.Gln585Pro) c.*2210A>C (n.*2210A>C) c.3608A>C (p.Gln1203Pro) c.3590A>C (p.Gln1197Pro) | |
| 22 | g.50721444A>G | CA10326082 | SHANK3 | c.3212A>G (p.Gln1071Arg) n.3796A>G c.2264A>G (p.Gln755Arg) c.1754A>G (p.Gln585Arg) c.*2210A>G (n.*2210A>G) c.3608A>G (p.Gln1203Arg) c.3590A>G (p.Gln1197Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721444A>T | CA515262434 | SHANK3 | c.3212A>T (p.Gln1071Leu) n.3796A>T c.2264A>T (p.Gln755Leu) c.1754A>T (p.Gln585Leu) c.*2210A>T (n.*2210A>T) c.3608A>T (p.Gln1203Leu) c.3590A>T (p.Gln1197Leu) | |
| 22 | g.50721445G>A | CA515262436 | SHANK3 | c.3213G>A (p.Gln1071=) n.3797G>A c.2265G>A (p.Gln755=) c.1755G>A (p.Gln585=) c.*2211G>A (n.*2211G>A) c.3609G>A (p.Gln1203=) c.3591G>A (p.Gln1197=) | gnomAD v4 |
| 22 | g.50721445G>C | CA515262438 | SHANK3 | c.3213G>C (p.Gln1071His) n.3797G>C c.2265G>C (p.Gln755His) c.1755G>C (p.Gln585His) c.*2211G>C (n.*2211G>C) c.3609G>C (p.Gln1203His) c.3591G>C (p.Gln1197His) | |
| 22 | g.50721445G>T | CA515262439 | SHANK3 | c.3213G>T (p.Gln1071His) n.3797G>T c.2265G>T (p.Gln755His) c.1755G>T (p.Gln585His) c.*2211G>T (n.*2211G>T) c.3609G>T (p.Gln1203His) c.3591G>T (p.Gln1197His) | |
| 22 | g.50721446C>A | CA515262440 | SHANK3 | c.3214C>A (p.Arg1072=) n.3798C>A c.2266C>A (p.Arg756=) c.1756C>A (p.Arg586=) c.*2212C>A (n.*2212C>A) c.3610C>A (p.Arg1204=) c.3592C>A (p.Arg1198=) | dbSNP gnomAD v4 |
| 22 | g.50721446C= | CA2411008243 | SHANK3 | c.3214C= (p.Arg1072=) n.3798C= c.2266C= (p.Arg756=) c.1756C= (p.Arg586=) c.*2212C= (n.*2212C=) c.3610C= (p.Arg1204=) c.3592C= (p.Arg1198=) | |
| 22 | g.50721446C>G | CA515262442 | SHANK3 | c.3214C>G (p.Arg1072Gly) n.3798C>G c.2266C>G (p.Arg756Gly) c.1756C>G (p.Arg586Gly) c.*2212C>G (n.*2212C>G) c.3610C>G (p.Arg1204Gly) c.3592C>G (p.Arg1198Gly) | gnomAD v4 |
| 22 | g.50721446C>T | CA515262443 | SHANK3 | c.3214C>T (p.Arg1072Trp) n.3798C>T c.2266C>T (p.Arg756Trp) c.1756C>T (p.Arg586Trp) c.*2212C>T (n.*2212C>T) c.3610C>T (p.Arg1204Trp) c.3592C>T (p.Arg1198Trp) | dbSNP COSMIC COSMIC |
| 22 | g.50721447G>A | CA515262444 | SHANK3 | c.3215G>A (p.Arg1072Gln) n.3799G>A c.2267G>A (p.Arg756Gln) c.1757G>A (p.Arg586Gln) c.*2213G>A (n.*2213G>A) c.3611G>A (p.Arg1204Gln) c.3593G>A (p.Arg1198Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721447G>C | CA515262446 | SHANK3 | c.3215G>C (p.Arg1072Pro) n.3799G>C c.2267G>C (p.Arg756Pro) c.1757G>C (p.Arg586Pro) c.*2213G>C (n.*2213G>C) c.3611G>C (p.Arg1204Pro) c.3593G>C (p.Arg1198Pro) | |
| 22 | g.50721447G= | CA2411008244 | SHANK3 | c.3215G= (p.Arg1072=) n.3799G= c.2267G= (p.Arg756=) c.1757G= (p.Arg586=) c.*2213G= (n.*2213G=) c.3611G= (p.Arg1204=) c.3593G= (p.Arg1198=) | |
| 22 | g.50721447G>T | CA515262447 | SHANK3 | c.3215G>T (p.Arg1072Leu) n.3799G>T c.2267G>T (p.Arg756Leu) c.1757G>T (p.Arg586Leu) c.*2213G>T (n.*2213G>T) c.3611G>T (p.Arg1204Leu) c.3593G>T (p.Arg1198Leu) | |
| 22 | g.50721448G>A | CA515262451 | SHANK3 | c.3216G>A (p.Arg1072=) n.3800G>A c.2268G>A (p.Arg756=) c.1758G>A (p.Arg586=) c.*2214G>A (n.*2214G>A) c.3612G>A (p.Arg1204=) c.3594G>A (p.Arg1198=) | dbSNP gnomAD v4 |
| 22 | g.50721448G>C | CA515262448 | SHANK3 | c.3216G>C (p.Arg1072=) n.3800G>C c.2268G>C (p.Arg756=) c.1758G>C (p.Arg586=) c.*2214G>C (n.*2214G>C) c.3612G>C (p.Arg1204=) c.3594G>C (p.Arg1198=) | |
| 22 | g.50721448G= | CA2411008245 | SHANK3 | c.3216G= (p.Arg1072=) n.3800G= c.2268G= (p.Arg756=) c.1758G= (p.Arg586=) c.*2214G= (n.*2214G=) c.3612G= (p.Arg1204=) c.3594G= (p.Arg1198=) | |
| 22 | g.50721448G>T | CA515262449 | SHANK3 | c.3216G>T (p.Arg1072=) n.3800G>T c.2268G>T (p.Arg756=) c.1758G>T (p.Arg586=) c.*2214G>T (n.*2214G>T) c.3612G>T (p.Arg1204=) c.3594G>T (p.Arg1198=) | |
| 22 | g.50721449C>A | CA515262452 | SHANK3 | c.3217C>A (p.Pro1073Thr) n.3801C>A c.2269C>A (p.Pro757Thr) c.1759C>A (p.Pro587Thr) c.*2215C>A (n.*2215C>A) c.3613C>A (p.Pro1205Thr) c.3595C>A (p.Pro1199Thr) | |
| 22 | g.50721449C= | CA2411008246 | SHANK3 | c.3217C= (p.Pro1073=) n.3801C= c.2269C= (p.Pro757=) c.1759C= (p.Pro587=) c.*2215C= (n.*2215C=) c.3613C= (p.Pro1205=) c.3595C= (p.Pro1199=) | |
| 22 | g.50721449C>G | CA515262453 | SHANK3 | c.3217C>G (p.Pro1073Ala) n.3801C>G c.2269C>G (p.Pro757Ala) c.1759C>G (p.Pro587Ala) c.*2215C>G (n.*2215C>G) c.3613C>G (p.Pro1205Ala) c.3595C>G (p.Pro1199Ala) | |
| 22 | g.50721449C>T | CA10326083 | SHANK3 | c.3217C>T (p.Pro1073Ser) n.3801C>T c.2269C>T (p.Pro757Ser) c.1759C>T (p.Pro587Ser) c.*2215C>T (n.*2215C>T) c.3613C>T (p.Pro1205Ser) c.3595C>T (p.Pro1199Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721450C>A | CA515262454 | SHANK3 | c.3218C>A (p.Pro1073Gln) n.3802C>A c.2270C>A (p.Pro757Gln) c.1760C>A (p.Pro587Gln) c.*2216C>A (n.*2216C>A) c.3614C>A (p.Pro1205Gln) c.3596C>A (p.Pro1199Gln) | |
| 22 | g.50721450C>G | CA515262457 | SHANK3 | c.3218C>G (p.Pro1073Arg) n.3802C>G c.2270C>G (p.Pro757Arg) c.1760C>G (p.Pro587Arg) c.*2216C>G (n.*2216C>G) c.3614C>G (p.Pro1205Arg) c.3596C>G (p.Pro1199Arg) | |
| 22 | g.50721450C>T | CA515262461 | SHANK3 | c.3218C>T (p.Pro1073Leu) n.3802C>T c.2270C>T (p.Pro757Leu) c.1760C>T (p.Pro587Leu) c.*2216C>T (n.*2216C>T) c.3614C>T (p.Pro1205Leu) c.3596C>T (p.Pro1199Leu) | gnomAD v4 |
| 22 | g.50721451A= | CA2411008247 | SHANK3 | c.3219A= (p.Pro1073=) n.3803A= c.2271A= (p.Pro757=) c.1761A= (p.Pro587=) c.*2217A= (n.*2217A=) c.3615A= (p.Pro1205=) c.3597A= (p.Pro1199=) | |
| 22 | g.50721451A>C | CA515262463 | SHANK3 | c.3219A>C (p.Pro1073=) n.3803A>C c.2271A>C (p.Pro757=) c.1761A>C (p.Pro587=) c.*2217A>C (n.*2217A>C) c.3615A>C (p.Pro1205=) c.3597A>C (p.Pro1199=) | |
| 22 | g.50721451A>G | CA515262467 | SHANK3 | c.3219A>G (p.Pro1073=) n.3803A>G c.2271A>G (p.Pro757=) c.1761A>G (p.Pro587=) c.*2217A>G (n.*2217A>G) c.3615A>G (p.Pro1205=) c.3597A>G (p.Pro1199=) | |
| 22 | g.50721451A>T | CA10326084 | SHANK3 | c.3219A>T (p.Pro1073=) n.3803A>T c.2271A>T (p.Pro757=) c.1761A>T (p.Pro587=) c.*2217A>T (n.*2217A>T) c.3615A>T (p.Pro1205=) c.3597A>T (p.Pro1199=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721452G>A | CA10326085 | SHANK3 | c.3220G>A (p.Ala1074Thr) n.3804G>A c.2272G>A (p.Ala758Thr) c.1762G>A (p.Ala588Thr) c.*2218G>A (n.*2218G>A) c.3616G>A (p.Ala1206Thr) c.3598G>A (p.Ala1200Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721452G>C | CA515262468 | SHANK3 | c.3220G>C (p.Ala1074Pro) n.3804G>C c.2272G>C (p.Ala758Pro) c.1762G>C (p.Ala588Pro) c.*2218G>C (n.*2218G>C) c.3616G>C (p.Ala1206Pro) c.3598G>C (p.Ala1200Pro) | |
| 22 | g.50721452G= | CA2411008248 | SHANK3 | c.3220G= (p.Ala1074=) n.3804G= c.2272G= (p.Ala758=) c.1762G= (p.Ala588=) c.*2218G= (n.*2218G=) c.3616G= (p.Ala1206=) c.3598G= (p.Ala1200=) | |
| 22 | g.50721452G>T | CA515262469 | SHANK3 | c.3220G>T (p.Ala1074Ser) n.3804G>T c.2272G>T (p.Ala758Ser) c.1762G>T (p.Ala588Ser) c.*2218G>T (n.*2218G>T) c.3616G>T (p.Ala1206Ser) c.3598G>T (p.Ala1200Ser) | gnomAD v4 |
| 22 | g.50721453C>A | CA515262471 | SHANK3 | c.3221C>A (p.Ala1074Asp) n.3805C>A c.2273C>A (p.Ala758Asp) c.1763C>A (p.Ala588Asp) c.*2219C>A (n.*2219C>A) c.3617C>A (p.Ala1206Asp) c.3599C>A (p.Ala1200Asp) | |
| 22 | g.50721453C= | CA2411008249 | SHANK3 | c.3221C= (p.Ala1074=) n.3805C= c.2273C= (p.Ala758=) c.1763C= (p.Ala588=) c.*2219C= (n.*2219C=) c.3617C= (p.Ala1206=) c.3599C= (p.Ala1200=) | |
| 22 | g.50721453C>G | CA515262472 | SHANK3 | c.3221C>G (p.Ala1074Gly) n.3805C>G c.2273C>G (p.Ala758Gly) c.1763C>G (p.Ala588Gly) c.*2219C>G (n.*2219C>G) c.3617C>G (p.Ala1206Gly) c.3599C>G (p.Ala1200Gly) | |
| 22 | g.50721453C>T | CA515262470 | SHANK3 | c.3221C>T (p.Ala1074Val) n.3805C>T c.2273C>T (p.Ala758Val) c.1763C>T (p.Ala588Val) c.*2219C>T (n.*2219C>T) c.3617C>T (p.Ala1206Val) c.3599C>T (p.Ala1200Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721454T>A | CA515262473 | SHANK3 | c.3222T>A (p.Ala1074=) n.3806T>A c.2274T>A (p.Ala758=) c.1764T>A (p.Ala588=) c.*2220T>A (n.*2220T>A) c.3618T>A (p.Ala1206=) c.3600T>A (p.Ala1200=) | |
| 22 | g.50721454T>C | CA515262475 | SHANK3 | c.3222T>C (p.Ala1074=) n.3806T>C c.2274T>C (p.Ala758=) c.1764T>C (p.Ala588=) c.*2220T>C (n.*2220T>C) c.3618T>C (p.Ala1206=) c.3600T>C (p.Ala1200=) | |
| 22 | g.50721454T>G | CA10326086 | SHANK3 | c.3222T>G (p.Ala1074=) n.3806T>G c.2274T>G (p.Ala758=) c.1764T>G (p.Ala588=) c.*2220T>G (n.*2220T>G) c.3618T>G (p.Ala1206=) c.3600T>G (p.Ala1200=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721454T= | CA2411008250 | SHANK3 | c.3222T= (p.Ala1074=) n.3806T= c.2274T= (p.Ala758=) c.1764T= (p.Ala588=) c.*2220T= (n.*2220T=) c.3618T= (p.Ala1206=) c.3600T= (p.Ala1200=) | |
| 22 | g.50721454_50721455delinsTG | CA2411008251 | SHANK3 | c.3222_3223delinsTG (p.Ala1074=) n.3806_3807delinsTG c.2274_2275delinsTG (p.Ala758=) c.1764_1765delinsTG (p.Ala588=) c.*2220_*2221delinsTG (n.*2220_*2221delinsTG) c.3618_3619delinsTG (p.Ala1206=) c.3600_3601delinsTG (p.Ala1200=) | |
| 22 | g.50721455G>A | CA515262477 | SHANK3 | c.3223G>A (p.Gly1075Ser) n.3807G>A c.2275G>A (p.Gly759Ser) c.1765G>A (p.Gly589Ser) c.*2221G>A (n.*2221G>A) c.3619G>A (p.Gly1207Ser) c.3601G>A (p.Gly1201Ser) | |
| 22 | g.50721455G>C | CA515262478 | SHANK3 | c.3223G>C (p.Gly1075Arg) n.3807G>C c.2275G>C (p.Gly759Arg) c.1765G>C (p.Gly589Arg) c.*2221G>C (n.*2221G>C) c.3619G>C (p.Gly1207Arg) c.3601G>C (p.Gly1201Arg) | |
| 22 | g.50721455G>T | CA515262482 | SHANK3 | c.3223G>T (p.Gly1075Cys) n.3807G>T c.2275G>T (p.Gly759Cys) c.1765G>T (p.Gly589Cys) c.*2221G>T (n.*2221G>T) c.3619G>T (p.Gly1207Cys) c.3601G>T (p.Gly1201Cys) | |
| 22 | g.50721456del | CA913190846 | SHANK3 | c.3224del (p.Gly1075AlafsTer?) n.3808del c.2276del (p.Gly759AlafsTer?) c.1766del (p.Gly589AlafsTer?) c.*2222del (n.*2222del) c.3620del (p.Gly1207AlafsTer?) c.3602del (p.Gly1201AlafsTer?) | ClinVar dbSNP |
| 22 | g.50721456G>A | CA515262485 | SHANK3 | c.3224G>A (p.Gly1075Asp) n.3808G>A c.2276G>A (p.Gly759Asp) c.1766G>A (p.Gly589Asp) c.*2222G>A (n.*2222G>A) c.3620G>A (p.Gly1207Asp) c.3602G>A (p.Gly1201Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721456G>C | CA515262483 | SHANK3 | c.3224G>C (p.Gly1075Ala) n.3808G>C c.2276G>C (p.Gly759Ala) c.1766G>C (p.Gly589Ala) c.*2222G>C (n.*2222G>C) c.3620G>C (p.Gly1207Ala) c.3602G>C (p.Gly1201Ala) | |
| 22 | g.50721456G= | CA2411008252 | SHANK3 | c.3224G= (p.Gly1075=) n.3808G= c.2276G= (p.Gly759=) c.1766G= (p.Gly589=) c.*2222G= (n.*2222G=) c.3620G= (p.Gly1207=) c.3602G= (p.Gly1201=) | |
| 22 | g.50721456G>T | CA515262484 | SHANK3 | c.3224G>T (p.Gly1075Val) n.3808G>T c.2276G>T (p.Gly759Val) c.1766G>T (p.Gly589Val) c.*2222G>T (n.*2222G>T) c.3620G>T (p.Gly1207Val) c.3602G>T (p.Gly1201Val) | |
| 22 | g.50721457C>A | CA10326087 | SHANK3 | c.3225C>A (p.Gly1075=) n.3809C>A c.2277C>A (p.Gly759=) c.1767C>A (p.Gly589=) c.*2223C>A (n.*2223C>A) c.3621C>A (p.Gly1207=) c.3603C>A (p.Gly1201=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721457C= | CA2411008253 | SHANK3 | c.3225C= (p.Gly1075=) n.3809C= c.2277C= (p.Gly759=) c.1767C= (p.Gly589=) c.*2223C= (n.*2223C=) c.3621C= (p.Gly1207=) c.3603C= (p.Gly1201=) | |
| 22 | g.50721457C>G | CA515262487 | SHANK3 | c.3225C>G (p.Gly1075=) n.3809C>G c.2277C>G (p.Gly759=) c.1767C>G (p.Gly589=) c.*2223C>G (n.*2223C>G) c.3621C>G (p.Gly1207=) c.3603C>G (p.Gly1201=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721457C>T | CA515262488 | SHANK3 | c.3225C>T (p.Gly1075=) n.3809C>T c.2277C>T (p.Gly759=) c.1767C>T (p.Gly589=) c.*2223C>T (n.*2223C>T) c.3621C>T (p.Gly1207=) c.3603C>T (p.Gly1201=) | gnomAD v4 |
| 22 | g.50721458C>A | CA515262489 | SHANK3 | c.3226C>A (p.Leu1076Ile) n.3810C>A c.2278C>A (p.Leu760Ile) c.1768C>A (p.Leu590Ile) c.*2224C>A (n.*2224C>A) c.3622C>A (p.Leu1208Ile) c.3604C>A (p.Leu1202Ile) | gnomAD v4 |
| 22 | g.50721458C>G | CA515262492 | SHANK3 | c.3226C>G (p.Leu1076Val) n.3810C>G c.2278C>G (p.Leu760Val) c.1768C>G (p.Leu590Val) c.*2224C>G (n.*2224C>G) c.3622C>G (p.Leu1208Val) c.3604C>G (p.Leu1202Val) | |
| 22 | g.50721458C>T | CA515262493 | SHANK3 | c.3226C>T (p.Leu1076Phe) n.3810C>T c.2278C>T (p.Leu760Phe) c.1768C>T (p.Leu590Phe) c.*2224C>T (n.*2224C>T) c.3622C>T (p.Leu1208Phe) c.3604C>T (p.Leu1202Phe) | |
| 22 | g.50721459T>A | CA515262494 | SHANK3 | c.3227T>A (p.Leu1076His) n.3811T>A c.2279T>A (p.Leu760His) c.1769T>A (p.Leu590His) c.*2225T>A (n.*2225T>A) c.3623T>A (p.Leu1208His) c.3605T>A (p.Leu1202His) | gnomAD v4 |
| 22 | g.50721459T>C | CA515262496 | SHANK3 | c.3227T>C (p.Leu1076Pro) n.3811T>C c.2279T>C (p.Leu760Pro) c.1769T>C (p.Leu590Pro) c.*2225T>C (n.*2225T>C) c.3623T>C (p.Leu1208Pro) c.3605T>C (p.Leu1202Pro) | gnomAD v4 |
| 22 | g.50721459T>G | CA515262495 | SHANK3 | c.3227T>G (p.Leu1076Arg) n.3811T>G c.2279T>G (p.Leu760Arg) c.1769T>G (p.Leu590Arg) c.*2225T>G (n.*2225T>G) c.3623T>G (p.Leu1208Arg) c.3605T>G (p.Leu1202Arg) | |
| 22 | g.50721460C>A | CA515262497 | SHANK3 | c.3228C>A (p.Leu1076=) n.3812C>A c.2280C>A (p.Leu760=) c.1770C>A (p.Leu590=) c.*2226C>A (n.*2226C>A) c.3624C>A (p.Leu1208=) c.3606C>A (p.Leu1202=) | |
| 22 | g.50721460C= | CA2411008254 | SHANK3 | c.3228C= (p.Leu1076=) n.3812C= c.2280C= (p.Leu760=) c.1770C= (p.Leu590=) c.*2226C= (n.*2226C=) c.3624C= (p.Leu1208=) c.3606C= (p.Leu1202=) | |
| 22 | g.50721460C>G | CA515262498 | SHANK3 | c.3228C>G (p.Leu1076=) n.3812C>G c.2280C>G (p.Leu760=) c.1770C>G (p.Leu590=) c.*2226C>G (n.*2226C>G) c.3624C>G (p.Leu1208=) c.3606C>G (p.Leu1202=) | |
| 22 | g.50721460C>T | CA10326088 | SHANK3 | c.3228C>T (p.Leu1076=) n.3812C>T c.2280C>T (p.Leu760=) c.1770C>T (p.Leu590=) c.*2226C>T (n.*2226C>T) c.3624C>T (p.Leu1208=) c.3606C>T (p.Leu1202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721461A>C | CA515262500 | SHANK3 | c.3229A>C (p.Ile1077Leu) n.3813A>C c.2281A>C (p.Ile761Leu) c.1771A>C (p.Ile591Leu) c.*2227A>C (n.*2227A>C) c.3625A>C (p.Ile1209Leu) c.3607A>C (p.Ile1203Leu) | |
| 22 | g.50721461A>G | CA515262501 | SHANK3 | c.3229A>G (p.Ile1077Val) n.3813A>G c.2281A>G (p.Ile761Val) c.1771A>G (p.Ile591Val) c.*2227A>G (n.*2227A>G) c.3625A>G (p.Ile1209Val) c.3607A>G (p.Ile1203Val) | |
| 22 | g.50721461A>T | CA515262502 | SHANK3 | c.3229A>T (p.Ile1077Phe) n.3813A>T c.2281A>T (p.Ile761Phe) c.1771A>T (p.Ile591Phe) c.*2227A>T (n.*2227A>T) c.3625A>T (p.Ile1209Phe) c.3607A>T (p.Ile1203Phe) | |
| 22 | g.50721462T>A | CA515262503 | SHANK3 | c.3230T>A (p.Ile1077Asn) n.3814T>A c.2282T>A (p.Ile761Asn) c.1772T>A (p.Ile591Asn) c.*2228T>A (n.*2228T>A) c.3626T>A (p.Ile1209Asn) c.3608T>A (p.Ile1203Asn) | |
| 22 | g.50721462T>C | CA515262504 | SHANK3 | c.3230T>C (p.Ile1077Thr) n.3814T>C c.2282T>C (p.Ile761Thr) c.1772T>C (p.Ile591Thr) c.*2228T>C (n.*2228T>C) c.3626T>C (p.Ile1209Thr) c.3608T>C (p.Ile1203Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721462T>G | CA515262505 | SHANK3 | c.3230T>G (p.Ile1077Ser) n.3814T>G c.2282T>G (p.Ile761Ser) c.1772T>G (p.Ile591Ser) c.*2228T>G (n.*2228T>G) c.3626T>G (p.Ile1209Ser) c.3608T>G (p.Ile1203Ser) | |
| 22 | g.50721462T= | CA2411008255 | SHANK3 | c.3230T= (p.Ile1077=) n.3814T= c.2282T= (p.Ile761=) c.1772T= (p.Ile591=) c.*2228T= (n.*2228T=) c.3626T= (p.Ile1209=) c.3608T= (p.Ile1203=) | |
| 22 | g.50721463C>A | CA515262506 | SHANK3 | c.3231C>A (p.Ile1077=) n.3815C>A c.2283C>A (p.Ile761=) c.1773C>A (p.Ile591=) c.*2229C>A (n.*2229C>A) c.3627C>A (p.Ile1209=) c.3609C>A (p.Ile1203=) | gnomAD v4 |
| 22 | g.50721463C= | CA2411008256 | SHANK3 | c.3231C= (p.Ile1077=) n.3815C= c.2283C= (p.Ile761=) c.1773C= (p.Ile591=) c.*2229C= (n.*2229C=) c.3627C= (p.Ile1209=) c.3609C= (p.Ile1203=) | |
| 22 | g.50721463C>G | CA515262507 | SHANK3 | c.3231C>G (p.Ile1077Met) n.3815C>G c.2283C>G (p.Ile761Met) c.1773C>G (p.Ile591Met) c.*2229C>G (n.*2229C>G) c.3627C>G (p.Ile1209Met) c.3609C>G (p.Ile1203Met) | |
| 22 | g.50721463C>T | CA10326089 | SHANK3 | c.3231C>T (p.Ile1077=) n.3815C>T c.2283C>T (p.Ile761=) c.1773C>T (p.Ile591=) c.*2229C>T (n.*2229C>T) c.3627C>T (p.Ile1209=) c.3609C>T (p.Ile1203=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721464G>A | CA515262515 | SHANK3 | c.3232G>A (p.Val1078Ile) n.3816G>A c.2284G>A (p.Val762Ile) c.1774G>A (p.Val592Ile) c.*2230G>A (n.*2230G>A) c.3628G>A (p.Val1210Ile) c.3610G>A (p.Val1204Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721464G>C | CA515262518 | SHANK3 | c.3232G>C (p.Val1078Leu) n.3816G>C c.2284G>C (p.Val762Leu) c.1774G>C (p.Val592Leu) c.*2230G>C (n.*2230G>C) c.3628G>C (p.Val1210Leu) c.3610G>C (p.Val1204Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721464G= | CA2411008257 | SHANK3 | c.3232G= (p.Val1078=) n.3816G= c.2284G= (p.Val762=) c.1774G= (p.Val592=) c.*2230G= (n.*2230G=) c.3628G= (p.Val1210=) c.3610G= (p.Val1204=) | |
| 22 | g.50721464G>T | CA515262517 | SHANK3 | c.3232G>T (p.Val1078Phe) n.3816G>T c.2284G>T (p.Val762Phe) c.1774G>T (p.Val592Phe) c.*2230G>T (n.*2230G>T) c.3628G>T (p.Val1210Phe) c.3610G>T (p.Val1204Phe) | dbSNP gnomAD v4 COSMIC COSMIC |
| 22 | g.50721465T>A | CA515262519 | SHANK3 | c.3233T>A (p.Val1078Asp) n.3817T>A c.2285T>A (p.Val762Asp) c.1775T>A (p.Val592Asp) c.*2231T>A (n.*2231T>A) c.3629T>A (p.Val1210Asp) c.3611T>A (p.Val1204Asp) | |
| 22 | g.50721465T>C | CA515262520 | SHANK3 | c.3233T>C (p.Val1078Ala) n.3817T>C c.2285T>C (p.Val762Ala) c.1775T>C (p.Val592Ala) c.*2231T>C (n.*2231T>C) c.3629T>C (p.Val1210Ala) c.3611T>C (p.Val1204Ala) | |
| 22 | g.50721465T>G | CA515262521 | SHANK3 | c.3233T>G (p.Val1078Gly) n.3817T>G c.2285T>G (p.Val762Gly) c.1775T>G (p.Val592Gly) c.*2231T>G (n.*2231T>G) c.3629T>G (p.Val1210Gly) c.3611T>G (p.Val1204Gly) | |
| 22 | g.50721465T= | CA2411008258 | SHANK3 | c.3233T= (p.Val1078=) n.3817T= c.2285T= (p.Val762=) c.1775T= (p.Val592=) c.*2231T= (n.*2231T=) c.3629T= (p.Val1210=) c.3611T= (p.Val1204=) | |
| 22 | g.50721465_50721466insG | CA1139667207 | SHANK3 | c.3233_3234insG (p.Val1079CysfsTer?) n.3817_3818insG c.2285_2286insG (p.Val763CysfsTer?) c.1775_1776insG (p.Val593CysfsTer?) c.*2231_*2232insG (n.*2231_*2232insG) c.3629_3630insG (p.Val1211CysfsTer?) c.3611_3612insG (p.Val1205CysfsTer?) | ClinVar dbSNP |
| 22 | g.50721466T>A | CA515262522 | SHANK3 | c.3234T>A (p.Val1078=) n.3818T>A c.2286T>A (p.Val762=) c.1776T>A (p.Val592=) c.*2232T>A (n.*2232T>A) c.3630T>A (p.Val1210=) c.3612T>A (p.Val1204=) | |
| 22 | g.50721466T>C | CA515262523 | SHANK3 | c.3234T>C (p.Val1078=) n.3818T>C c.2286T>C (p.Val762=) c.1776T>C (p.Val592=) c.*2232T>C (n.*2232T>C) c.3630T>C (p.Val1210=) c.3612T>C (p.Val1204=) | |
| 22 | g.50721466T>G | CA515262527 | SHANK3 | c.3234T>G (p.Val1078=) n.3818T>G c.2286T>G (p.Val762=) c.1776T>G (p.Val592=) c.*2232T>G (n.*2232T>G) c.3630T>G (p.Val1210=) c.3612T>G (p.Val1204=) | |
| 22 | g.50721467G>A | CA515262529 | SHANK3 | c.3235G>A (p.Val1079Met) n.3819G>A c.2287G>A (p.Val763Met) c.1777G>A (p.Val593Met) c.*2233G>A (n.*2233G>A) c.3631G>A (p.Val1211Met) c.3613G>A (p.Val1205Met) | gnomAD v4 |
| 22 | g.50721467G>C | CA515262532 | SHANK3 | c.3235G>C (p.Val1079Leu) n.3819G>C c.2287G>C (p.Val763Leu) c.1777G>C (p.Val593Leu) c.*2233G>C (n.*2233G>C) c.3631G>C (p.Val1211Leu) c.3613G>C (p.Val1205Leu) | |
| 22 | g.50721467G>T | CA515262533 | SHANK3 | c.3235G>T (p.Val1079Leu) n.3819G>T c.2287G>T (p.Val763Leu) c.1777G>T (p.Val593Leu) c.*2233G>T (n.*2233G>T) c.3631G>T (p.Val1211Leu) c.3613G>T (p.Val1205Leu) | |
| 22 | g.50721468T>A | CA515262534 | SHANK3 | c.3236T>A (p.Val1079Glu) n.3820T>A c.2288T>A (p.Val763Glu) c.1778T>A (p.Val593Glu) c.*2234T>A (n.*2234T>A) c.3632T>A (p.Val1211Glu) c.3614T>A (p.Val1205Glu) | |
| 22 | g.50721468T>C | CA515262535 | SHANK3 | c.3236T>C (p.Val1079Ala) n.3820T>C c.2288T>C (p.Val763Ala) c.1778T>C (p.Val593Ala) c.*2234T>C (n.*2234T>C) c.3632T>C (p.Val1211Ala) c.3614T>C (p.Val1205Ala) | |
| 22 | g.50721468T>G | CA515262536 | SHANK3 | c.3236T>G (p.Val1079Gly) n.3820T>G c.2288T>G (p.Val763Gly) c.1778T>G (p.Val593Gly) c.*2234T>G (n.*2234T>G) c.3632T>G (p.Val1211Gly) c.3614T>G (p.Val1205Gly) | |
| 22 | g.50721469G>A | CA515262539 | SHANK3 | c.3237G>A (p.Val1079=) n.3821G>A c.2289G>A (p.Val763=) c.1779G>A (p.Val593=) c.*2235G>A (n.*2235G>A) c.3633G>A (p.Val1211=) c.3615G>A (p.Val1205=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721469G>C | CA515262538 | SHANK3 | c.3237G>C (p.Val1079=) n.3821G>C c.2289G>C (p.Val763=) c.1779G>C (p.Val593=) c.*2235G>C (n.*2235G>C) c.3633G>C (p.Val1211=) c.3615G>C (p.Val1205=) | gnomAD v4 |
| 22 | g.50721469G= | CA2411008259 | SHANK3 | c.3237G= (p.Val1079=) n.3821G= c.2289G= (p.Val763=) c.1779G= (p.Val593=) c.*2235G= (n.*2235G=) c.3633G= (p.Val1211=) c.3615G= (p.Val1205=) | |
| 22 | g.50721469G>T | CA515262537 | SHANK3 | c.3237G>T (p.Val1079=) n.3821G>T c.2289G>T (p.Val763=) c.1779G>T (p.Val593=) c.*2235G>T (n.*2235G>T) c.3633G>T (p.Val1211=) c.3615G>T (p.Val1205=) | |
| 22 | g.50721470C>A | CA515262540 | SHANK3 | c.3238C>A (p.His1080Asn) n.3822C>A c.2290C>A (p.His764Asn) c.1780C>A (p.His594Asn) c.*2236C>A (n.*2236C>A) c.3634C>A (p.His1212Asn) c.3616C>A (p.His1206Asn) | gnomAD v4 |
| 22 | g.50721470C= | CA2411008260 | SHANK3 | c.3238C= (p.His1080=) n.3822C= c.2290C= (p.His764=) c.1780C= (p.His594=) c.*2236C= (n.*2236C=) c.3634C= (p.His1212=) c.3616C= (p.His1206=) | |
| 22 | g.50721470C>G | CA515262542 | SHANK3 | c.3238C>G (p.His1080Asp) n.3822C>G c.2290C>G (p.His764Asp) c.1780C>G (p.His594Asp) c.*2236C>G (n.*2236C>G) c.3634C>G (p.His1212Asp) c.3616C>G (p.His1206Asp) | |
| 22 | g.50721470C>T | CA515262545 | SHANK3 | c.3238C>T (p.His1080Tyr) n.3822C>T c.2290C>T (p.His764Tyr) c.1780C>T (p.His594Tyr) c.*2236C>T (n.*2236C>T) c.3634C>T (p.His1212Tyr) c.3616C>T (p.His1206Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721470dup | CA16609404 | SHANK3 | c.3238dup (p.His1080ProfsTer?) n.3822dup c.2290dup (p.His764ProfsTer?) c.1780dup (p.His594ProfsTer?) c.*2236dup (n.*2236dup) c.3634dup (p.His1212ProfsTer?) c.3616dup (p.His1206ProfsTer?) | ClinVar dbSNP |
| 22 | g.50721471A>C | CA515262547 | SHANK3 | c.3239A>C (p.His1080Pro) n.3823A>C c.2291A>C (p.His764Pro) c.1781A>C (p.His594Pro) c.*2237A>C (n.*2237A>C) c.3635A>C (p.His1212Pro) c.3617A>C (p.His1206Pro) | |
| 22 | g.50721471A>G | CA515262549 | SHANK3 | c.3239A>G (p.His1080Arg) n.3823A>G c.2291A>G (p.His764Arg) c.1781A>G (p.His594Arg) c.*2237A>G (n.*2237A>G) c.3635A>G (p.His1212Arg) c.3617A>G (p.His1206Arg) | gnomAD v4 |
| 22 | g.50721471A>T | CA515262550 | SHANK3 | c.3239A>T (p.His1080Leu) n.3823A>T c.2291A>T (p.His764Leu) c.1781A>T (p.His594Leu) c.*2237A>T (n.*2237A>T) c.3635A>T (p.His1212Leu) c.3617A>T (p.His1206Leu) | |
| 22 | g.50721472C>A | CA515262551 | SHANK3 | c.3240C>A (p.His1080Gln) n.3824C>A c.2292C>A (p.His764Gln) c.1782C>A (p.His594Gln) c.*2238C>A (n.*2238C>A) c.3636C>A (p.His1212Gln) c.3618C>A (p.His1206Gln) | gnomAD v4 |
| 22 | g.50721472C= | CA2411008261 | SHANK3 | c.3240C= (p.His1080=) n.3824C= c.2292C= (p.His764=) c.1782C= (p.His594=) c.*2238C= (n.*2238C=) c.3636C= (p.His1212=) c.3618C= (p.His1206=) | |
| 22 | g.50721472C>G | CA515262552 | SHANK3 | c.3240C>G (p.His1080Gln) n.3824C>G c.2292C>G (p.His764Gln) c.1782C>G (p.His594Gln) c.*2238C>G (n.*2238C>G) c.3636C>G (p.His1212Gln) c.3618C>G (p.His1206Gln) | |
| 22 | g.50721472C>T | CA10326090 | SHANK3 | c.3240C>T (p.His1080=) n.3824C>T c.2292C>T (p.His764=) c.1782C>T (p.His594=) c.*2238C>T (n.*2238C>T) c.3636C>T (p.His1212=) c.3618C>T (p.His1206=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721473G>A | CA10326091 | SHANK3 | c.3241G>A (p.Ala1081Thr) n.3825G>A c.2293G>A (p.Ala765Thr) c.1783G>A (p.Ala595Thr) c.*2239G>A (n.*2239G>A) c.3637G>A (p.Ala1213Thr) c.3619G>A (p.Ala1207Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721473G>C | CA515262557 | SHANK3 | c.3241G>C (p.Ala1081Pro) n.3825G>C c.2293G>C (p.Ala765Pro) c.1783G>C (p.Ala595Pro) c.*2239G>C (n.*2239G>C) c.3637G>C (p.Ala1213Pro) c.3619G>C (p.Ala1207Pro) | |
| 22 | g.50721473G= | CA2411008262 | SHANK3 | c.3241G= (p.Ala1081=) n.3825G= c.2293G= (p.Ala765=) c.1783G= (p.Ala595=) c.*2239G= (n.*2239G=) c.3637G= (p.Ala1213=) c.3619G= (p.Ala1207=) | |
| 22 | g.50721473G>T | CA515262558 | SHANK3 | c.3241G>T (p.Ala1081Ser) n.3825G>T c.2293G>T (p.Ala765Ser) c.1783G>T (p.Ala595Ser) c.*2239G>T (n.*2239G>T) c.3637G>T (p.Ala1213Ser) c.3619G>T (p.Ala1207Ser) | gnomAD v4 |
| 22 | g.50721473dup | CA2573055035 | SHANK3 | c.3241dup (p.Ala1081GlyfsTer?) n.3825dup c.2293dup (p.Ala765GlyfsTer?) c.1783dup (p.Ala595GlyfsTer?) c.*2239dup (n.*2239dup) c.3637dup (p.Ala1213GlyfsTer?) c.3619dup (p.Ala1207GlyfsTer?) | ClinVar dbSNP |
| 22 | g.50721474C>A | CA515262559 | SHANK3 | c.3242C>A (p.Ala1081Asp) n.3826C>A c.2294C>A (p.Ala765Asp) c.1784C>A (p.Ala595Asp) c.*2240C>A (n.*2240C>A) c.3638C>A (p.Ala1213Asp) c.3620C>A (p.Ala1207Asp) | |
| 22 | g.50721474C>G | CA515262563 | SHANK3 | c.3242C>G (p.Ala1081Gly) n.3826C>G c.2294C>G (p.Ala765Gly) c.1784C>G (p.Ala595Gly) c.*2240C>G (n.*2240C>G) c.3638C>G (p.Ala1213Gly) c.3620C>G (p.Ala1207Gly) | |
| 22 | g.50721474C>T | CA515262561 | SHANK3 | c.3242C>T (p.Ala1081Val) n.3826C>T c.2294C>T (p.Ala765Val) c.1784C>T (p.Ala595Val) c.*2240C>T (n.*2240C>T) c.3638C>T (p.Ala1213Val) c.3620C>T (p.Ala1207Val) | gnomAD v4 |
| 22 | g.50721475dup | CA1139667208 | SHANK3 | c.3243dup (p.Thr1082HisfsTer?) n.3827dup c.2295dup (p.Thr766HisfsTer?) c.1785dup (p.Thr596HisfsTer?) c.*2241dup (n.*2241dup) c.3639dup (p.Thr1214HisfsTer?) c.3621dup (p.Thr1208HisfsTer?) | ClinVar dbSNP |
| 22 | g.50721475C>A | CA515262565 | SHANK3 | c.3243C>A (p.Ala1081=) n.3827C>A c.2295C>A (p.Ala765=) c.1785C>A (p.Ala595=) c.*2241C>A (n.*2241C>A) c.3639C>A (p.Ala1213=) c.3621C>A (p.Ala1207=) | |
| 22 | g.50721475C>G | CA515262567 | SHANK3 | c.3243C>G (p.Ala1081=) n.3827C>G c.2295C>G (p.Ala765=) c.1785C>G (p.Ala595=) c.*2241C>G (n.*2241C>G) c.3639C>G (p.Ala1213=) c.3621C>G (p.Ala1207=) | |
| 22 | g.50721475C>T | CA515262566 | SHANK3 | c.3243C>T (p.Ala1081=) n.3827C>T c.2295C>T (p.Ala765=) c.1785C>T (p.Ala595=) c.*2241C>T (n.*2241C>T) c.3639C>T (p.Ala1213=) c.3621C>T (p.Ala1207=) | ClinVar gnomAD v4 |
| 22 | g.50721476A= | CA2411008263 | SHANK3 | c.3244A= (p.Thr1082=) n.3828A= c.2296A= (p.Thr766=) c.1786A= (p.Thr596=) c.*2242A= (n.*2242A=) c.3640A= (p.Thr1214=) c.3622A= (p.Thr1208=) | |
| 22 | g.50721476A>C | CA515262569 | SHANK3 | c.3244A>C (p.Thr1082Pro) n.3828A>C c.2296A>C (p.Thr766Pro) c.1786A>C (p.Thr596Pro) c.*2242A>C (n.*2242A>C) c.3640A>C (p.Thr1214Pro) c.3622A>C (p.Thr1208Pro) | |
| 22 | g.50721476A>G | CA515262572 | SHANK3 | c.3244A>G (p.Thr1082Ala) n.3828A>G c.2296A>G (p.Thr766Ala) c.1786A>G (p.Thr596Ala) c.*2242A>G (n.*2242A>G) c.3640A>G (p.Thr1214Ala) c.3622A>G (p.Thr1208Ala) | |
| 22 | g.50721476A>T | CA515262571 | SHANK3 | c.3244A>T (p.Thr1082Ser) n.3828A>T c.2296A>T (p.Thr766Ser) c.1786A>T (p.Thr596Ser) c.*2242A>T (n.*2242A>T) c.3640A>T (p.Thr1214Ser) c.3622A>T (p.Thr1208Ser) | ClinVar dbSNP |
| 22 | g.50721477C>A | CA515262574 | SHANK3 | c.3245C>A (p.Thr1082Asn) n.3829C>A c.2297C>A (p.Thr766Asn) c.1787C>A (p.Thr596Asn) c.*2243C>A (n.*2243C>A) c.3641C>A (p.Thr1214Asn) c.3623C>A (p.Thr1208Asn) | |
| 22 | g.50721477C= | CA2411008264 | SHANK3 | c.3245C= (p.Thr1082=) n.3829C= c.2297C= (p.Thr766=) c.1787C= (p.Thr596=) c.*2243C= (n.*2243C=) c.3641C= (p.Thr1214=) c.3623C= (p.Thr1208=) | |
| 22 | g.50721477C>G | CA10326092 | SHANK3 | c.3245C>G (p.Thr1082Ser) n.3829C>G c.2297C>G (p.Thr766Ser) c.1787C>G (p.Thr596Ser) c.*2243C>G (n.*2243C>G) c.3641C>G (p.Thr1214Ser) c.3623C>G (p.Thr1208Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721477C>T | CA515262575 | SHANK3 | c.3245C>T (p.Thr1082Ile) n.3829C>T c.2297C>T (p.Thr766Ile) c.1787C>T (p.Thr596Ile) c.*2243C>T (n.*2243C>T) c.3641C>T (p.Thr1214Ile) c.3623C>T (p.Thr1208Ile) | dbSNP gnomAD v4 |
| 22 | g.50721478C>A | CA515262577 | SHANK3 | c.3246C>A (p.Thr1082=) n.3830C>A c.2298C>A (p.Thr766=) c.1788C>A (p.Thr596=) c.*2244C>A (n.*2244C>A) c.3642C>A (p.Thr1214=) c.3624C>A (p.Thr1208=) | gnomAD v4 |
| 22 | g.50721478C= | CA2411008265 | SHANK3 | c.3246C= (p.Thr1082=) n.3830C= c.2298C= (p.Thr766=) c.1788C= (p.Thr596=) c.*2244C= (n.*2244C=) c.3642C= (p.Thr1214=) c.3624C= (p.Thr1208=) | |
| 22 | g.50721478C>G | CA515262580 | SHANK3 | c.3246C>G (p.Thr1082=) n.3830C>G c.2298C>G (p.Thr766=) c.1788C>G (p.Thr596=) c.*2244C>G (n.*2244C>G) c.3642C>G (p.Thr1214=) c.3624C>G (p.Thr1208=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721478C>T | CA10326093 | SHANK3 | c.3246C>T (p.Thr1082=) n.3830C>T c.2298C>T (p.Thr766=) c.1788C>T (p.Thr596=) c.*2244C>T (n.*2244C>T) c.3642C>T (p.Thr1214=) c.3624C>T (p.Thr1208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721479A>C | CA515262581 | SHANK3 | c.3247A>C (p.Ser1083Arg) n.3831A>C c.2299A>C (p.Ser767Arg) c.1789A>C (p.Ser597Arg) c.*2245A>C (n.*2245A>C) c.3643A>C (p.Ser1215Arg) c.3625A>C (p.Ser1209Arg) | gnomAD v4 |
| 22 | g.50721479A>G | CA515262582 | SHANK3 | c.3247A>G (p.Ser1083Gly) n.3831A>G c.2299A>G (p.Ser767Gly) c.1789A>G (p.Ser597Gly) c.*2245A>G (n.*2245A>G) c.3643A>G (p.Ser1215Gly) c.3625A>G (p.Ser1209Gly) | |
| 22 | g.50721479A>T | CA515262583 | SHANK3 | c.3247A>T (p.Ser1083Cys) n.3831A>T c.2299A>T (p.Ser767Cys) c.1789A>T (p.Ser597Cys) c.*2245A>T (n.*2245A>T) c.3643A>T (p.Ser1215Cys) c.3625A>T (p.Ser1209Cys) | |
| 22 | g.50721480G>A | CA515262584 | SHANK3 | c.3248G>A (p.Ser1083Asn) n.3832G>A c.2300G>A (p.Ser767Asn) c.1790G>A (p.Ser597Asn) c.*2246G>A (n.*2246G>A) c.3644G>A (p.Ser1215Asn) c.3626G>A (p.Ser1209Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721480G>C | CA515262585 | SHANK3 | c.3248G>C (p.Ser1083Thr) n.3832G>C c.2300G>C (p.Ser767Thr) c.1790G>C (p.Ser597Thr) c.*2246G>C (n.*2246G>C) c.3644G>C (p.Ser1215Thr) c.3626G>C (p.Ser1209Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721480G= | CA2411008266 | SHANK3 | c.3248G= (p.Ser1083=) n.3832G= c.2300G= (p.Ser767=) c.1790G= (p.Ser597=) c.*2246G= (n.*2246G=) c.3644G= (p.Ser1215=) c.3626G= (p.Ser1209=) | |
| 22 | g.50721480G>T | CA515262586 | SHANK3 | c.3248G>T (p.Ser1083Ile) n.3832G>T c.2300G>T (p.Ser767Ile) c.1790G>T (p.Ser597Ile) c.*2246G>T (n.*2246G>T) c.3644G>T (p.Ser1215Ile) c.3626G>T (p.Ser1209Ile) | |
| 22 | g.50721481del | CA645619942 | SHANK3 | c.3249del (p.Ser1083ArgfsTer?) n.3833del c.2301del (p.Ser767ArgfsTer?) c.1791del (p.Ser597ArgfsTer?) c.*2247del (n.*2247del) c.3645del (p.Ser1215ArgfsTer?) c.3627del (p.Ser1209ArgfsTer?) | COSMIC COSMIC |
| 22 | g.50721481C>A | CA515262591 | SHANK3 | c.3249C>A (p.Ser1083Arg) n.3833C>A c.2301C>A (p.Ser767Arg) c.1791C>A (p.Ser597Arg) c.*2247C>A (n.*2247C>A) c.3645C>A (p.Ser1215Arg) c.3627C>A (p.Ser1209Arg) | |
| 22 | g.50721481C>G | CA515262590 | SHANK3 | c.3249C>G (p.Ser1083Arg) n.3833C>G c.2301C>G (p.Ser767Arg) c.1791C>G (p.Ser597Arg) c.*2247C>G (n.*2247C>G) c.3645C>G (p.Ser1215Arg) c.3627C>G (p.Ser1209Arg) | |
| 22 | g.50721481C>T | CA515262588 | SHANK3 | c.3249C>T (p.Ser1083=) n.3833C>T c.2301C>T (p.Ser767=) c.1791C>T (p.Ser597=) c.*2247C>T (n.*2247C>T) c.3645C>T (p.Ser1215=) c.3627C>T (p.Ser1209=) | |
| 22 | g.50721482A>C | CA515262592 | SHANK3 | c.3250A>C (p.Asn1084His) n.3834A>C c.2302A>C (p.Asn768His) c.1792A>C (p.Asn598His) c.*2248A>C (n.*2248A>C) c.3646A>C (p.Asn1216His) c.3628A>C (p.Asn1210His) | |
| 22 | g.50721482A>G | CA515262594 | SHANK3 | c.3250A>G (p.Asn1084Asp) n.3834A>G c.2302A>G (p.Asn768Asp) c.1792A>G (p.Asn598Asp) c.*2248A>G (n.*2248A>G) c.3646A>G (p.Asn1216Asp) c.3628A>G (p.Asn1210Asp) | |
| 22 | g.50721482A>T | CA515262596 | SHANK3 | c.3250A>T (p.Asn1084Tyr) n.3834A>T c.2302A>T (p.Asn768Tyr) c.1792A>T (p.Asn598Tyr) c.*2248A>T (n.*2248A>T) c.3646A>T (p.Asn1216Tyr) c.3628A>T (p.Asn1210Tyr) | |
| 22 | g.50721483A= | CA2411008267 | SHANK3 | c.3251A= (p.Asn1084=) n.3835A= c.2303A= (p.Asn768=) c.1793A= (p.Asn598=) c.*2249A= (n.*2249A=) c.3647A= (p.Asn1216=) c.3629A= (p.Asn1210=) | |
| 22 | g.50721483A>C | CA515262598 | SHANK3 | c.3251A>C (p.Asn1084Thr) n.3835A>C c.2303A>C (p.Asn768Thr) c.1793A>C (p.Asn598Thr) c.*2249A>C (n.*2249A>C) c.3647A>C (p.Asn1216Thr) c.3629A>C (p.Asn1210Thr) | |
| 22 | g.50721483A>G | CA515262600 | SHANK3 | c.3251A>G (p.Asn1084Ser) n.3835A>G c.2303A>G (p.Asn768Ser) c.1793A>G (p.Asn598Ser) c.*2249A>G (n.*2249A>G) c.3647A>G (p.Asn1216Ser) c.3629A>G (p.Asn1210Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721483A>T | CA515262601 | SHANK3 | c.3251A>T (p.Asn1084Ile) n.3835A>T c.2303A>T (p.Asn768Ile) c.1793A>T (p.Asn598Ile) c.*2249A>T (n.*2249A>T) c.3647A>T (p.Asn1216Ile) c.3629A>T (p.Asn1210Ile) | |
| 22 | g.50721484C>A | CA515262602 | SHANK3 | c.3252C>A (p.Asn1084Lys) n.3836C>A c.2304C>A (p.Asn768Lys) c.1794C>A (p.Asn598Lys) c.*2250C>A (n.*2250C>A) c.3648C>A (p.Asn1216Lys) c.3630C>A (p.Asn1210Lys) | |
| 22 | g.50721484C= | CA2411008268 | SHANK3 | c.3252C= (p.Asn1084=) n.3836C= c.2304C= (p.Asn768=) c.1794C= (p.Asn598=) c.*2250C= (n.*2250C=) c.3648C= (p.Asn1216=) c.3630C= (p.Asn1210=) | |
| 22 | g.50721484C>G | CA10326095 | SHANK3 | c.3252C>G (p.Asn1084Lys) n.3836C>G c.2304C>G (p.Asn768Lys) c.1794C>G (p.Asn598Lys) c.*2250C>G (n.*2250C>G) c.3648C>G (p.Asn1216Lys) c.3630C>G (p.Asn1210Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721484C>T | CA10326094 | SHANK3 | c.3252C>T (p.Asn1084=) n.3836C>T c.2304C>T (p.Asn768=) c.1794C>T (p.Asn598=) c.*2250C>T (n.*2250C>T) c.3648C>T (p.Asn1216=) c.3630C>T (p.Asn1210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721485G>A | CA325579293 | SHANK3 | c.3253G>A (p.Gly1085Arg) n.3837G>A c.2305G>A (p.Gly769Arg) c.1795G>A (p.Gly599Arg) c.*2251G>A (n.*2251G>A) c.3649G>A (p.Gly1217Arg) c.3631G>A (p.Gly1211Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721485G>C | CA515262603 | SHANK3 | c.3253G>C (p.Gly1085Arg) n.3837G>C c.2305G>C (p.Gly769Arg) c.1795G>C (p.Gly599Arg) c.*2251G>C (n.*2251G>C) c.3649G>C (p.Gly1217Arg) c.3631G>C (p.Gly1211Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721485G= | CA2411008269 | SHANK3 | c.3253G= (p.Gly1085=) n.3837G= c.2305G= (p.Gly769=) c.1795G= (p.Gly599=) c.*2251G= (n.*2251G=) c.3649G= (p.Gly1217=) c.3631G= (p.Gly1211=) | |
| 22 | g.50721485G>T | CA515262604 | SHANK3 | c.3253G>T (p.Gly1085Trp) n.3837G>T c.2305G>T (p.Gly769Trp) c.1795G>T (p.Gly599Trp) c.*2251G>T (n.*2251G>T) c.3649G>T (p.Gly1217Trp) c.3631G>T (p.Gly1211Trp) | |
| 22 | g.50721486G>A | CA515262605 | SHANK3 | c.3254G>A (p.Gly1085Glu) n.3838G>A c.2306G>A (p.Gly769Glu) c.1796G>A (p.Gly599Glu) c.*2252G>A (n.*2252G>A) c.3650G>A (p.Gly1217Glu) c.3632G>A (p.Gly1211Glu) | dbSNP gnomAD v4 |
| 22 | g.50721486G>C | CA515262607 | SHANK3 | c.3254G>C (p.Gly1085Ala) n.3838G>C c.2306G>C (p.Gly769Ala) c.1796G>C (p.Gly599Ala) c.*2252G>C (n.*2252G>C) c.3650G>C (p.Gly1217Ala) c.3632G>C (p.Gly1211Ala) | |
| 22 | g.50721486G= | CA2411008270 | SHANK3 | c.3254G= (p.Gly1085=) n.3838G= c.2306G= (p.Gly769=) c.1796G= (p.Gly599=) c.*2252G= (n.*2252G=) c.3650G= (p.Gly1217=) c.3632G= (p.Gly1211=) | |
| 22 | g.50721486G>T | CA515262608 | SHANK3 | c.3254G>T (p.Gly1085Val) n.3838G>T c.2306G>T (p.Gly769Val) c.1796G>T (p.Gly599Val) c.*2252G>T (n.*2252G>T) c.3650G>T (p.Gly1217Val) c.3632G>T (p.Gly1211Val) | |
| 22 | g.50721487G>A | CA515262609 | SHANK3 | c.3255G>A (p.Gly1085=) n.3839G>A c.2307G>A (p.Gly769=) c.1797G>A (p.Gly599=) c.*2253G>A (n.*2253G>A) c.3651G>A (p.Gly1217=) c.3633G>A (p.Gly1211=) | gnomAD v4 |
| 22 | g.50721487G>C | CA10326096 | SHANK3 | c.3255G>C (p.Gly1085=) n.3839G>C c.2307G>C (p.Gly769=) c.1797G>C (p.Gly599=) c.*2253G>C (n.*2253G>C) c.3651G>C (p.Gly1217=) c.3633G>C (p.Gly1211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721487G= | CA2411008271 | SHANK3 | c.3255G= (p.Gly1085=) n.3839G= c.2307G= (p.Gly769=) c.1797G= (p.Gly599=) c.*2253G= (n.*2253G=) c.3651G= (p.Gly1217=) c.3633G= (p.Gly1211=) | |
| 22 | g.50721487G>T | CA515262610 | SHANK3 | c.3255G>T (p.Gly1085=) n.3839G>T c.2307G>T (p.Gly769=) c.1797G>T (p.Gly599=) c.*2253G>T (n.*2253G>T) c.3651G>T (p.Gly1217=) c.3633G>T (p.Gly1211=) | |
| 22 | g.50721488C>A | CA515262611 | SHANK3 | c.3256C>A (p.Gln1086Lys) n.3840C>A c.2308C>A (p.Gln770Lys) c.1798C>A (p.Gln600Lys) c.*2254C>A (n.*2254C>A) c.3652C>A (p.Gln1218Lys) c.3634C>A (p.Gln1212Lys) | gnomAD v4 |
| 22 | g.50721488C= | CA2411008272 | SHANK3 | c.3256C= (p.Gln1086=) n.3840C= c.2308C= (p.Gln770=) c.1798C= (p.Gln600=) c.*2254C= (n.*2254C=) c.3652C= (p.Gln1218=) c.3634C= (p.Gln1212=) | |
| 22 | g.50721488C>G | CA10326097 | SHANK3 | c.3256C>G (p.Gln1086Glu) n.3840C>G c.2308C>G (p.Gln770Glu) c.1798C>G (p.Gln600Glu) c.*2254C>G (n.*2254C>G) c.3652C>G (p.Gln1218Glu) c.3634C>G (p.Gln1212Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721488C>T | CA515262612 | SHANK3 | c.3256C>T (p.Gln1086Ter) n.3840C>T c.2308C>T (p.Gln770Ter) c.1798C>T (p.Gln600Ter) c.*2254C>T (n.*2254C>T) c.3652C>T (p.Gln1218Ter) c.3634C>T (p.Gln1212Ter) | |
| 22 | g.50721489A= | CA2411008273 | SHANK3 | c.3257A= (p.Gln1086=) n.3841A= c.2309A= (p.Gln770=) c.1799A= (p.Gln600=) c.*2255A= (n.*2255A=) c.3653A= (p.Gln1218=) c.3635A= (p.Gln1212=) | |
| 22 | g.50721489A>C | CA515262613 | SHANK3 | c.3257A>C (p.Gln1086Pro) n.3841A>C c.2309A>C (p.Gln770Pro) c.1799A>C (p.Gln600Pro) c.*2255A>C (n.*2255A>C) c.3653A>C (p.Gln1218Pro) c.3635A>C (p.Gln1212Pro) | |
| 22 | g.50721489A>G | CA515262615 | SHANK3 | c.3257A>G (p.Gln1086Arg) n.3841A>G c.2309A>G (p.Gln770Arg) c.1799A>G (p.Gln600Arg) c.*2255A>G (n.*2255A>G) c.3653A>G (p.Gln1218Arg) c.3635A>G (p.Gln1212Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721489A>T | CA515262614 | SHANK3 | c.3257A>T (p.Gln1086Leu) n.3841A>T c.2309A>T (p.Gln770Leu) c.1799A>T (p.Gln600Leu) c.*2255A>T (n.*2255A>T) c.3653A>T (p.Gln1218Leu) c.3635A>T (p.Gln1212Leu) | |
| 22 | g.50721490G>A | CA325579305 | SHANK3 | c.3258G>A (p.Gln1086=) n.3842G>A c.2310G>A (p.Gln770=) c.1800G>A (p.Gln600=) c.*2256G>A (n.*2256G>A) c.3654G>A (p.Gln1218=) c.3636G>A (p.Gln1212=) | dbSNP gnomAD v4 |
| 22 | g.50721490G>C | CA515262616 | SHANK3 | c.3258G>C (p.Gln1086His) n.3842G>C c.2310G>C (p.Gln770His) c.1800G>C (p.Gln600His) c.*2256G>C (n.*2256G>C) c.3654G>C (p.Gln1218His) c.3636G>C (p.Gln1212His) | |
| 22 | g.50721490G= | CA2411008274 | SHANK3 | c.3258G= (p.Gln1086=) n.3842G= c.2310G= (p.Gln770=) c.1800G= (p.Gln600=) c.*2256G= (n.*2256G=) c.3654G= (p.Gln1218=) c.3636G= (p.Gln1212=) | |
| 22 | g.50721490G>T | CA515262617 | SHANK3 | c.3258G>T (p.Gln1086His) n.3842G>T c.2310G>T (p.Gln770His) c.1800G>T (p.Gln600His) c.*2256G>T (n.*2256G>T) c.3654G>T (p.Gln1218His) c.3636G>T (p.Gln1212His) | |
| 22 | g.50721491G>A | CA10326098 | SHANK3 | c.3259G>A (p.Glu1087Lys) n.3843G>A c.2311G>A (p.Glu771Lys) c.1801G>A (p.Glu601Lys) c.*2257G>A (n.*2257G>A) c.3655G>A (p.Glu1219Lys) c.3637G>A (p.Glu1213Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721491G>C | CA515262622 | SHANK3 | c.3259G>C (p.Glu1087Gln) n.3843G>C c.2311G>C (p.Glu771Gln) c.1801G>C (p.Glu601Gln) c.*2257G>C (n.*2257G>C) c.3655G>C (p.Glu1219Gln) c.3637G>C (p.Glu1213Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721491G= | CA2411008275 | SHANK3 | c.3259G= (p.Glu1087=) n.3843G= c.2311G= (p.Glu771=) c.1801G= (p.Glu601=) c.*2257G= (n.*2257G=) c.3655G= (p.Glu1219=) c.3637G= (p.Glu1213=) | |
| 22 | g.50721491G>T | CA515262623 | SHANK3 | c.3259G>T (p.Glu1087Ter) n.3843G>T c.2311G>T (p.Glu771Ter) c.1801G>T (p.Glu601Ter) c.*2257G>T (n.*2257G>T) c.3655G>T (p.Glu1219Ter) c.3637G>T (p.Glu1213Ter) | gnomAD v4 |
| 22 | g.50721492A>C | CA515262624 | SHANK3 | c.3260A>C (p.Glu1087Ala) n.3844A>C c.2312A>C (p.Glu771Ala) c.1802A>C (p.Glu601Ala) c.*2258A>C (n.*2258A>C) c.3656A>C (p.Glu1219Ala) c.3638A>C (p.Glu1213Ala) | |
| 22 | g.50721492A>G | CA515262625 | SHANK3 | c.3260A>G (p.Glu1087Gly) n.3844A>G c.2312A>G (p.Glu771Gly) c.1802A>G (p.Glu601Gly) c.*2258A>G (n.*2258A>G) c.3656A>G (p.Glu1219Gly) c.3638A>G (p.Glu1213Gly) | |
| 22 | g.50721492A>T | CA515262626 | SHANK3 | c.3260A>T (p.Glu1087Val) n.3844A>T c.2312A>T (p.Glu771Val) c.1802A>T (p.Glu601Val) c.*2258A>T (n.*2258A>T) c.3656A>T (p.Glu1219Val) c.3638A>T (p.Glu1213Val) | |
| 22 | g.50721493G>A | CA10326099 | SHANK3 | c.3261G>A (p.Glu1087=) n.3845G>A c.2313G>A (p.Glu771=) c.1803G>A (p.Glu601=) c.*2259G>A (n.*2259G>A) c.3657G>A (p.Glu1219=) c.3639G>A (p.Glu1213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721493G>C | CA515262627 | SHANK3 | c.3261G>C (p.Glu1087Asp) n.3845G>C c.2313G>C (p.Glu771Asp) c.1803G>C (p.Glu601Asp) c.*2259G>C (n.*2259G>C) c.3657G>C (p.Glu1219Asp) c.3639G>C (p.Glu1213Asp) | |
| 22 | g.50721493G= | CA2411008276 | SHANK3 | c.3261G= (p.Glu1087=) n.3845G= c.2313G= (p.Glu771=) c.1803G= (p.Glu601=) c.*2259G= (n.*2259G=) c.3657G= (p.Glu1219=) c.3639G= (p.Glu1213=) | |
| 22 | g.50721493G>T | CA515262628 | SHANK3 | c.3261G>T (p.Glu1087Asp) n.3845G>T c.2313G>T (p.Glu771Asp) c.1803G>T (p.Glu601Asp) c.*2259G>T (n.*2259G>T) c.3657G>T (p.Glu1219Asp) c.3639G>T (p.Glu1213Asp) | |
| 22 | g.50721494C>A | CA515262633 | SHANK3 | c.3262C>A (p.Pro1088Thr) n.3846C>A c.2314C>A (p.Pro772Thr) c.1804C>A (p.Pro602Thr) c.*2260C>A (n.*2260C>A) c.3658C>A (p.Pro1220Thr) c.3640C>A (p.Pro1214Thr) | gnomAD v4 |
| 22 | g.50721494C= | CA2411008277 | SHANK3 | c.3262C= (p.Pro1088=) n.3846C= c.2314C= (p.Pro772=) c.1804C= (p.Pro602=) c.*2260C= (n.*2260C=) c.3658C= (p.Pro1220=) c.3640C= (p.Pro1214=) | |
| 22 | g.50721494C>G | CA515262631 | SHANK3 | c.3262C>G (p.Pro1088Ala) n.3846C>G c.2314C>G (p.Pro772Ala) c.1804C>G (p.Pro602Ala) c.*2260C>G (n.*2260C>G) c.3658C>G (p.Pro1220Ala) c.3640C>G (p.Pro1214Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721494C>T | CA515262629 | SHANK3 | c.3262C>T (p.Pro1088Ser) n.3846C>T c.2314C>T (p.Pro772Ser) c.1804C>T (p.Pro602Ser) c.*2260C>T (n.*2260C>T) c.3658C>T (p.Pro1220Ser) c.3640C>T (p.Pro1214Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721495C>A | CA515262636 | SHANK3 | c.3263C>A (p.Pro1088His) n.3847C>A c.2315C>A (p.Pro772His) c.1805C>A (p.Pro602His) c.*2261C>A (n.*2261C>A) c.3659C>A (p.Pro1220His) c.3641C>A (p.Pro1214His) | dbSNP gnomAD v4 |
| 22 | g.50721495C= | CA2411008278 | SHANK3 | c.3263C= (p.Pro1088=) n.3847C= c.2315C= (p.Pro772=) c.1805C= (p.Pro602=) c.*2261C= (n.*2261C=) c.3659C= (p.Pro1220=) c.3641C= (p.Pro1214=) | |
| 22 | g.50721495C>G | CA515262637 | SHANK3 | c.3263C>G (p.Pro1088Arg) n.3847C>G c.2315C>G (p.Pro772Arg) c.1805C>G (p.Pro602Arg) c.*2261C>G (n.*2261C>G) c.3659C>G (p.Pro1220Arg) c.3641C>G (p.Pro1214Arg) | |
| 22 | g.50721495C>T | CA515262638 | SHANK3 | c.3263C>T (p.Pro1088Leu) n.3847C>T c.2315C>T (p.Pro772Leu) c.1805C>T (p.Pro602Leu) c.*2261C>T (n.*2261C>T) c.3659C>T (p.Pro1220Leu) c.3641C>T (p.Pro1214Leu) | gnomAD v4 |
| 22 | g.50721496C>A | CA515262639 | SHANK3 | c.3264C>A (p.Pro1088=) n.3848C>A c.2316C>A (p.Pro772=) c.1806C>A (p.Pro602=) c.*2262C>A (n.*2262C>A) c.3660C>A (p.Pro1220=) c.3642C>A (p.Pro1214=) | |
| 22 | g.50721496C= | CA2411008279 | SHANK3 | c.3264C= (p.Pro1088=) n.3848C= c.2316C= (p.Pro772=) c.1806C= (p.Pro602=) c.*2262C= (n.*2262C=) c.3660C= (p.Pro1220=) c.3642C= (p.Pro1214=) | |
| 22 | g.50721496C>G | CA515262640 | SHANK3 | c.3264C>G (p.Pro1088=) n.3848C>G c.2316C>G (p.Pro772=) c.1806C>G (p.Pro602=) c.*2262C>G (n.*2262C>G) c.3660C>G (p.Pro1220=) c.3642C>G (p.Pro1214=) | |
| 22 | g.50721496C>T | CA515262642 | SHANK3 | c.3264C>T (p.Pro1088=) n.3848C>T c.2316C>T (p.Pro772=) c.1806C>T (p.Pro602=) c.*2262C>T (n.*2262C>T) c.3660C>T (p.Pro1220=) c.3642C>T (p.Pro1214=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721497A>C | CA515262644 | SHANK3 | c.3265A>C (p.Ser1089Arg) n.3849A>C c.2317A>C (p.Ser773Arg) c.1807A>C (p.Ser603Arg) c.*2263A>C (n.*2263A>C) c.3661A>C (p.Ser1221Arg) c.3643A>C (p.Ser1215Arg) | |
| 22 | g.50721497A>G | CA515262645 | SHANK3 | c.3265A>G (p.Ser1089Gly) n.3849A>G c.2317A>G (p.Ser773Gly) c.1807A>G (p.Ser603Gly) c.*2263A>G (n.*2263A>G) c.3661A>G (p.Ser1221Gly) c.3643A>G (p.Ser1215Gly) | |
| 22 | g.50721497A>T | CA515262647 | SHANK3 | c.3265A>T (p.Ser1089Cys) n.3849A>T c.2317A>T (p.Ser773Cys) c.1807A>T (p.Ser603Cys) c.*2263A>T (n.*2263A>T) c.3661A>T (p.Ser1221Cys) c.3643A>T (p.Ser1215Cys) | |
| 22 | g.50721498G>A | CA515262649 | SHANK3 | c.3266G>A (p.Ser1089Asn) n.3850G>A c.2318G>A (p.Ser773Asn) c.1808G>A (p.Ser603Asn) c.*2264G>A (n.*2264G>A) c.3662G>A (p.Ser1221Asn) c.3644G>A (p.Ser1215Asn) | |
| 22 | g.50721498G>C | CA515262651 | SHANK3 | c.3266G>C (p.Ser1089Thr) n.3850G>C c.2318G>C (p.Ser773Thr) c.1808G>C (p.Ser603Thr) c.*2264G>C (n.*2264G>C) c.3662G>C (p.Ser1221Thr) c.3644G>C (p.Ser1215Thr) | |
| 22 | g.50721498G>T | CA515262652 | SHANK3 | c.3266G>T (p.Ser1089Ile) n.3850G>T c.2318G>T (p.Ser773Ile) c.1808G>T (p.Ser603Ile) c.*2264G>T (n.*2264G>T) c.3662G>T (p.Ser1221Ile) c.3644G>T (p.Ser1215Ile) | |
| 22 | g.50721499C>A | CA515262653 | SHANK3 | c.3267C>A (p.Ser1089Arg) n.3851C>A c.2319C>A (p.Ser773Arg) c.1809C>A (p.Ser603Arg) c.*2265C>A (n.*2265C>A) c.3663C>A (p.Ser1221Arg) c.3645C>A (p.Ser1215Arg) | |
| 22 | g.50721499C= | CA2411008280 | SHANK3 | c.3267C= (p.Ser1089=) n.3851C= c.2319C= (p.Ser773=) c.1809C= (p.Ser603=) c.*2265C= (n.*2265C=) c.3663C= (p.Ser1221=) c.3645C= (p.Ser1215=) | |
| 22 | g.50721499C>G | CA325579314 | SHANK3 | c.3267C>G (p.Ser1089Arg) n.3851C>G c.2319C>G (p.Ser773Arg) c.1809C>G (p.Ser603Arg) c.*2265C>G (n.*2265C>G) c.3663C>G (p.Ser1221Arg) c.3645C>G (p.Ser1215Arg) | dbSNP |
| 22 | g.50721499C>T | CA515262654 | SHANK3 | c.3267C>T (p.Ser1089=) n.3851C>T c.2319C>T (p.Ser773=) c.1809C>T (p.Ser603=) c.*2265C>T (n.*2265C>T) c.3663C>T (p.Ser1221=) c.3645C>T (p.Ser1215=) | dbSNP gnomAD v4 |
| 22 | g.50721500A= | CA2411008281 | SHANK3 | c.3268A= (p.Arg1090=) n.3852A= c.2320A= (p.Arg774=) c.1810A= (p.Arg604=) c.*2266A= (n.*2266A=) c.3664A= (p.Arg1222=) c.3646A= (p.Arg1216=) | |
| 22 | g.50721500A>C | CA515262655 | SHANK3 | c.3268A>C (p.Arg1090=) n.3852A>C c.2320A>C (p.Arg774=) c.1810A>C (p.Arg604=) c.*2266A>C (n.*2266A>C) c.3664A>C (p.Arg1222=) c.3646A>C (p.Arg1216=) | |
| 22 | g.50721500A>G | CA325579316 | SHANK3 | c.3268A>G (p.Arg1090Gly) n.3852A>G c.2320A>G (p.Arg774Gly) c.1810A>G (p.Arg604Gly) c.*2266A>G (n.*2266A>G) c.3664A>G (p.Arg1222Gly) c.3646A>G (p.Arg1216Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721500A>T | CA515262656 | SHANK3 | c.3268A>T (p.Arg1090Trp) n.3852A>T c.2320A>T (p.Arg774Trp) c.1810A>T (p.Arg604Trp) c.*2266A>T (n.*2266A>T) c.3664A>T (p.Arg1222Trp) c.3646A>T (p.Arg1216Trp) | |
| 22 | g.50721501G>A | CA515262657 | SHANK3 | c.3269G>A (p.Arg1090Lys) n.3853G>A c.2321G>A (p.Arg774Lys) c.1811G>A (p.Arg604Lys) c.*2267G>A (n.*2267G>A) c.3665G>A (p.Arg1222Lys) c.3647G>A (p.Arg1216Lys) | gnomAD v4 |
| 22 | g.50721501G>C | CA515262658 | SHANK3 | c.3269G>C (p.Arg1090Thr) n.3853G>C c.2321G>C (p.Arg774Thr) c.1811G>C (p.Arg604Thr) c.*2267G>C (n.*2267G>C) c.3665G>C (p.Arg1222Thr) c.3647G>C (p.Arg1216Thr) | gnomAD v4 |
| 22 | g.50721501G>T | CA515262659 | SHANK3 | c.3269G>T (p.Arg1090Met) n.3853G>T c.2321G>T (p.Arg774Met) c.1811G>T (p.Arg604Met) c.*2267G>T (n.*2267G>T) c.3665G>T (p.Arg1222Met) c.3647G>T (p.Arg1216Met) | |
| 22 | g.50721502G>A | CA515262660 | SHANK3 | c.3270G>A (p.Arg1090=) n.3854G>A c.2322G>A (p.Arg774=) c.1812G>A (p.Arg604=) c.*2268G>A (n.*2268G>A) c.3666G>A (p.Arg1222=) c.3648G>A (p.Arg1216=) | |
| 22 | g.50721502G>C | CA515262662 | SHANK3 | c.3270G>C (p.Arg1090Ser) n.3854G>C c.2322G>C (p.Arg774Ser) c.1812G>C (p.Arg604Ser) c.*2268G>C (n.*2268G>C) c.3666G>C (p.Arg1222Ser) c.3648G>C (p.Arg1216Ser) | |
| 22 | g.50721502G>T | CA515262663 | SHANK3 | c.3270G>T (p.Arg1090Ser) n.3854G>T c.2322G>T (p.Arg774Ser) c.1812G>T (p.Arg604Ser) c.*2268G>T (n.*2268G>T) c.3666G>T (p.Arg1222Ser) c.3648G>T (p.Arg1216Ser) | gnomAD v4 |
| 22 | g.50721503C>A | CA515262666 | SHANK3 | c.3271C>A (p.Leu1091Met) n.3855C>A c.2323C>A (p.Leu775Met) c.1813C>A (p.Leu605Met) c.*2269C>A (n.*2269C>A) c.3667C>A (p.Leu1223Met) c.3649C>A (p.Leu1217Met) | |
| 22 | g.50721503C= | CA2411008282 | SHANK3 | c.3271C= (p.Leu1091=) n.3855C= c.2323C= (p.Leu775=) c.1813C= (p.Leu605=) c.*2269C= (n.*2269C=) c.3667C= (p.Leu1223=) c.3649C= (p.Leu1217=) | |
| 22 | g.50721503C>G | CA515262668 | SHANK3 | c.3271C>G (p.Leu1091Val) n.3855C>G c.2323C>G (p.Leu775Val) c.1813C>G (p.Leu605Val) c.*2269C>G (n.*2269C>G) c.3667C>G (p.Leu1223Val) c.3649C>G (p.Leu1217Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721503C>T | CA515262669 | SHANK3 | c.3271C>T (p.Leu1091=) n.3855C>T c.2323C>T (p.Leu775=) c.1813C>T (p.Leu605=) c.*2269C>T (n.*2269C>T) c.3667C>T (p.Leu1223=) c.3649C>T (p.Leu1217=) | |
| 22 | g.50721504T>A | CA515262670 | SHANK3 | c.3272T>A (p.Leu1091Gln) n.3856T>A c.2324T>A (p.Leu775Gln) c.1814T>A (p.Leu605Gln) c.*2270T>A (n.*2270T>A) c.3668T>A (p.Leu1223Gln) c.3650T>A (p.Leu1217Gln) | |
| 22 | g.50721504T>C | CA515262671 | SHANK3 | c.3272T>C (p.Leu1091Pro) n.3856T>C c.2324T>C (p.Leu775Pro) c.1814T>C (p.Leu605Pro) c.*2270T>C (n.*2270T>C) c.3668T>C (p.Leu1223Pro) c.3650T>C (p.Leu1217Pro) | |
| 22 | g.50721504T>G | CA515262672 | SHANK3 | c.3272T>G (p.Leu1091Arg) n.3856T>G c.2324T>G (p.Leu775Arg) c.1814T>G (p.Leu605Arg) c.*2270T>G (n.*2270T>G) c.3668T>G (p.Leu1223Arg) c.3650T>G (p.Leu1217Arg) | dbSNP gnomAD v4 |
| 22 | g.50721504T= | CA2411008284 | SHANK3 | c.3272T= (p.Leu1091=) n.3856T= c.2324T= (p.Leu775=) c.1814T= (p.Leu605=) c.*2270T= (n.*2270T=) c.3668T= (p.Leu1223=) c.3650T= (p.Leu1217=) | |
| 22 | g.50721504_50721507delinsTGGG | CA2411008283 | SHANK3 | c.3272_3275delinsTGGG (p.Leu1091=) n.3856_3859delinsTGGG c.2324_2327delinsTGGG (p.Leu775=) c.1814_1817delinsTGGG (p.Leu605=) c.*2270_*2273delinsTGGG (n.*2270_*2273delinsTGGG) c.3668_3671delinsTGGG (p.Leu1223=) c.3650_3653delinsTGGG (p.Leu1217=) | |
| 22 | g.50721505G>A | CA515262675 | SHANK3 | c.3273G>A (p.Leu1091=) n.3857G>A c.2325G>A (p.Leu775=) c.1815G>A (p.Leu605=) c.*2271G>A (n.*2271G>A) c.3669G>A (p.Leu1223=) c.3651G>A (p.Leu1217=) | gnomAD v4 |
| 22 | g.50721505G>C | CA10326101 | SHANK3 | c.3273G>C (p.Leu1091=) n.3857G>C c.2325G>C (p.Leu775=) c.1815G>C (p.Leu605=) c.*2271G>C (n.*2271G>C) c.3669G>C (p.Leu1223=) c.3651G>C (p.Leu1217=) | dbSNP ExAC gnomAD v2 |
| 22 | g.50721505G= | CA2411008286 | SHANK3 | c.3273G= (p.Leu1091=) n.3857G= c.2325G= (p.Leu775=) c.1815G= (p.Leu605=) c.*2271G= (n.*2271G=) c.3669G= (p.Leu1223=) c.3651G= (p.Leu1217=) | |
| 22 | g.50721505G>T | CA515262674 | SHANK3 | c.3273G>T (p.Leu1091=) n.3857G>T c.2325G>T (p.Leu775=) c.1815G>T (p.Leu605=) c.*2271G>T (n.*2271G>T) c.3669G>T (p.Leu1223=) c.3651G>T (p.Leu1217=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721512dup | CA204839 | SHANK3 | c.3280dup (p.Ala1094GlyfsTer?) n.3864dup c.2332dup (p.Ala778GlyfsTer?) c.1822dup (p.Ala608GlyfsTer?) c.*2278dup (n.*2278dup) c.3676dup (p.Ala1226GlyfsTer?) c.3658dup (p.Ala1220GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 22 | g.50721511_50721512dup | CA645619943 | SHANK3 | c.3279_3280dup (p.Ala1094GlyfsTer?) n.3863_3864dup c.2331_2332dup (p.Ala778GlyfsTer?) c.1821_1822dup (p.Ala608GlyfsTer?) c.*2277_*2278dup (n.*2277_*2278dup) c.3675_3676dup (p.Ala1226GlyfsTer?) c.3657_3658dup (p.Ala1220GlyfsTer?) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50721512del | CA10326100 | SHANK3 | c.3280del (p.Ala1094ProfsTer?) n.3864del c.2332del (p.Ala778ProfsTer?) c.1822del (p.Ala608ProfsTer?) c.*2278del (n.*2278del) c.3676del (p.Ala1226ProfsTer?) c.3658del (p.Ala1220ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721510_50721512del | CA2411008285 | SHANK3 | c.3278_3280del (p.Gly1093del) n.3862_3864del c.2330_2332del (p.Gly777del) c.1820_1822del (p.Gly607del) c.*2276_*2278del (n.*2276_*2278del) c.3674_3676del (p.Gly1225del) c.3656_3658del (p.Gly1219del) | dbSNP |
| 22 | g.50721506G>A | CA515262677 | SHANK3 | c.3274G>A (p.Gly1092Arg) n.3858G>A c.2326G>A (p.Gly776Arg) c.1816G>A (p.Gly606Arg) c.*2272G>A (n.*2272G>A) c.3670G>A (p.Gly1224Arg) c.3652G>A (p.Gly1218Arg) | |
| 22 | g.50721506G>C | CA10326102 | SHANK3 | c.3274G>C (p.Gly1092Arg) n.3858G>C c.2326G>C (p.Gly776Arg) c.1816G>C (p.Gly606Arg) c.*2272G>C (n.*2272G>C) c.3670G>C (p.Gly1224Arg) c.3652G>C (p.Gly1218Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721506G= | CA2411008287 | SHANK3 | c.3274G= (p.Gly1092=) n.3858G= c.2326G= (p.Gly776=) c.1816G= (p.Gly606=) c.*2272G= (n.*2272G=) c.3670G= (p.Gly1224=) c.3652G= (p.Gly1218=) | |
| 22 | g.50721506G>T | CA515262679 | SHANK3 | c.3274G>T (p.Gly1092Trp) n.3858G>T c.2326G>T (p.Gly776Trp) c.1816G>T (p.Gly606Trp) c.*2272G>T (n.*2272G>T) c.3670G>T (p.Gly1224Trp) c.3652G>T (p.Gly1218Trp) | gnomAD v4 |
| 22 | g.50721507G>A | CA10326103 | SHANK3 | c.3275G>A (p.Gly1092Glu) n.3859G>A c.2327G>A (p.Gly776Glu) c.1817G>A (p.Gly606Glu) c.*2273G>A (n.*2273G>A) c.3671G>A (p.Gly1224Glu) c.3653G>A (p.Gly1218Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721507G>C | CA515262683 | SHANK3 | c.3275G>C (p.Gly1092Ala) n.3859G>C c.2327G>C (p.Gly776Ala) c.1817G>C (p.Gly606Ala) c.*2273G>C (n.*2273G>C) c.3671G>C (p.Gly1224Ala) c.3653G>C (p.Gly1218Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721507G= | CA2411008288 | SHANK3 | c.3275G= (p.Gly1092=) n.3859G= c.2327G= (p.Gly776=) c.1817G= (p.Gly606=) c.*2273G= (n.*2273G=) c.3671G= (p.Gly1224=) c.3653G= (p.Gly1218=) | |
| 22 | g.50721507G>T | CA515262684 | SHANK3 | c.3275G>T (p.Gly1092Val) n.3859G>T c.2327G>T (p.Gly776Val) c.1817G>T (p.Gly606Val) c.*2273G>T (n.*2273G>T) c.3671G>T (p.Gly1224Val) c.3653G>T (p.Gly1218Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721507_50721508insCT | CA2517559273 | SHANK3 | c.3275_3276insCT (p.Gly1093TrpfsTer?) n.3859_3860insCT c.2327_2328insCT (p.Gly777TrpfsTer?) c.1817_1818insCT (p.Gly607TrpfsTer?) c.*2273_*2274insCT (n.*2273_*2274insCT) c.3671_3672insCT (p.Gly1225TrpfsTer?) c.3653_3654insCT (p.Gly1219TrpfsTer?) | |
| 22 | g.50721508G>A | CA515262686 | SHANK3 | c.3276G>A (p.Gly1092=) n.3860G>A c.2328G>A (p.Gly776=) c.1818G>A (p.Gly606=) c.*2274G>A (n.*2274G>A) c.3672G>A (p.Gly1224=) c.3654G>A (p.Gly1218=) | dbSNP gnomAD v2 |
| 22 | g.50721508G>C | CA515262687 | SHANK3 | c.3276G>C (p.Gly1092=) n.3860G>C c.2328G>C (p.Gly776=) c.1818G>C (p.Gly606=) c.*2274G>C (n.*2274G>C) c.3672G>C (p.Gly1224=) c.3654G>C (p.Gly1218=) | gnomAD v4 |
| 22 | g.50721508G= | CA2411008289 | SHANK3 | c.3276G= (p.Gly1092=) n.3860G= c.2328G= (p.Gly776=) c.1818G= (p.Gly606=) c.*2274G= (n.*2274G=) c.3672G= (p.Gly1224=) c.3654G= (p.Gly1218=) | |
| 22 | g.50721508G>T | CA515262685 | SHANK3 | c.3276G>T (p.Gly1092=) n.3860G>T c.2328G>T (p.Gly776=) c.1818G>T (p.Gly606=) c.*2274G>T (n.*2274G>T) c.3672G>T (p.Gly1224=) c.3654G>T (p.Gly1218=) | |
| 22 | g.50721509G>A | CA515262688 | SHANK3 | c.3277G>A (p.Gly1093Arg) n.3861G>A c.2329G>A (p.Gly777Arg) c.1819G>A (p.Gly607Arg) c.*2275G>A (n.*2275G>A) c.3673G>A (p.Gly1225Arg) c.3655G>A (p.Gly1219Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721509G>C | CA515262689 | SHANK3 | c.3277G>C (p.Gly1093Arg) n.3861G>C c.2329G>C (p.Gly777Arg) c.1819G>C (p.Gly607Arg) c.*2275G>C (n.*2275G>C) c.3673G>C (p.Gly1225Arg) c.3655G>C (p.Gly1219Arg) | |
| 22 | g.50721509G= | CA2411008290 | SHANK3 | c.3277G= (p.Gly1093=) n.3861G= c.2329G= (p.Gly777=) c.1819G= (p.Gly607=) c.*2275G= (n.*2275G=) c.3673G= (p.Gly1225=) c.3655G= (p.Gly1219=) | |
| 22 | g.50721509G>T | CA515262691 | SHANK3 | c.3277G>T (p.Gly1093Trp) n.3861G>T c.2329G>T (p.Gly777Trp) c.1819G>T (p.Gly607Trp) c.*2275G>T (n.*2275G>T) c.3673G>T (p.Gly1225Trp) c.3655G>T (p.Gly1219Trp) |