Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50721725A>C | CA515263310 | SHANK3 | c.3493A>C (p.Arg1165=) n.4077A>C c.2545A>C (p.Arg849=) c.2035A>C (p.Arg679=) c.*2491A>C (n.*2491A>C) c.3889A>C (p.Arg1297=) c.3871A>C (p.Arg1291=) | |
22 | g.50721725A>G | CA515263311 | SHANK3 | c.3493A>G (p.Arg1165Gly) n.4077A>G c.2545A>G (p.Arg849Gly) c.2035A>G (p.Arg679Gly) c.*2491A>G (n.*2491A>G) c.3889A>G (p.Arg1297Gly) c.3871A>G (p.Arg1291Gly) | COSMIC COSMIC |
22 | g.50721725A>T | CA515263312 | SHANK3 | c.3493A>T (p.Arg1165Trp) n.4077A>T c.2545A>T (p.Arg849Trp) c.2035A>T (p.Arg679Trp) c.*2491A>T (n.*2491A>T) c.3889A>T (p.Arg1297Trp) c.3871A>T (p.Arg1291Trp) | |
22 | g.50721726G>A | CA10326170 | SHANK3 | c.3494G>A (p.Arg1165Lys) n.4078G>A c.2546G>A (p.Arg849Lys) c.2036G>A (p.Arg679Lys) c.*2492G>A (n.*2492G>A) c.3890G>A (p.Arg1297Lys) c.3872G>A (p.Arg1291Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721726G>C | CA515263313 | SHANK3 | c.3494G>C (p.Arg1165Thr) n.4078G>C c.2546G>C (p.Arg849Thr) c.2036G>C (p.Arg679Thr) c.*2492G>C (n.*2492G>C) c.3890G>C (p.Arg1297Thr) c.3872G>C (p.Arg1291Thr) | |
22 | g.50721726G= | CA2411008421 | SHANK3 | c.3494G= (p.Arg1165=) n.4078G= c.2546G= (p.Arg849=) c.2036G= (p.Arg679=) c.*2492G= (n.*2492G=) c.3890G= (p.Arg1297=) c.3872G= (p.Arg1291=) | |
22 | g.50721726G>T | CA515263314 | SHANK3 | c.3494G>T (p.Arg1165Met) n.4078G>T c.2546G>T (p.Arg849Met) c.2036G>T (p.Arg679Met) c.*2492G>T (n.*2492G>T) c.3890G>T (p.Arg1297Met) c.3872G>T (p.Arg1291Met) | |
22 | g.50721727G>A | CA515263315 | SHANK3 | c.3495G>A (p.Arg1165=) n.4079G>A c.2547G>A (p.Arg849=) c.2037G>A (p.Arg679=) c.*2493G>A (n.*2493G>A) c.3891G>A (p.Arg1297=) c.3873G>A (p.Arg1291=) | |
22 | g.50721727G>C | CA515263316 | SHANK3 | c.3495G>C (p.Arg1165Ser) n.4079G>C c.2547G>C (p.Arg849Ser) c.2037G>C (p.Arg679Ser) c.*2493G>C (n.*2493G>C) c.3891G>C (p.Arg1297Ser) c.3873G>C (p.Arg1291Ser) | |
22 | g.50721727G>T | CA515263317 | SHANK3 | c.3495G>T (p.Arg1165Ser) n.4079G>T c.2547G>T (p.Arg849Ser) c.2037G>T (p.Arg679Ser) c.*2493G>T (n.*2493G>T) c.3891G>T (p.Arg1297Ser) c.3873G>T (p.Arg1291Ser) | |
22 | g.50721728G>A | CA515263318 | SHANK3 | c.3496G>A (p.Glu1166Lys) n.4080G>A c.2548G>A (p.Glu850Lys) c.2038G>A (p.Glu680Lys) c.*2494G>A (n.*2494G>A) c.3892G>A (p.Glu1298Lys) c.3874G>A (p.Glu1292Lys) | |
22 | g.50721728G>C | CA515263319 | SHANK3 | c.3496G>C (p.Glu1166Gln) n.4080G>C c.2548G>C (p.Glu850Gln) c.2038G>C (p.Glu680Gln) c.*2494G>C (n.*2494G>C) c.3892G>C (p.Glu1298Gln) c.3874G>C (p.Glu1292Gln) | |
22 | g.50721728G>T | CA515263320 | SHANK3 | c.3496G>T (p.Glu1166Ter) n.4080G>T c.2548G>T (p.Glu850Ter) c.2038G>T (p.Glu680Ter) c.*2494G>T (n.*2494G>T) c.3892G>T (p.Glu1298Ter) c.3874G>T (p.Glu1292Ter) | gnomAD v4 |
22 | g.50721729A>C | CA515263321 | SHANK3 | c.3497A>C (p.Glu1166Ala) n.4081A>C c.2549A>C (p.Glu850Ala) c.2039A>C (p.Glu680Ala) c.*2495A>C (n.*2495A>C) c.3893A>C (p.Glu1298Ala) c.3875A>C (p.Glu1292Ala) | gnomAD v4 |
22 | g.50721729A>G | CA515263323 | SHANK3 | c.3497A>G (p.Glu1166Gly) n.4081A>G c.2549A>G (p.Glu850Gly) c.2039A>G (p.Glu680Gly) c.*2495A>G (n.*2495A>G) c.3893A>G (p.Glu1298Gly) c.3875A>G (p.Glu1292Gly) | |
22 | g.50721729A>T | CA515263322 | SHANK3 | c.3497A>T (p.Glu1166Val) n.4081A>T c.2549A>T (p.Glu850Val) c.2039A>T (p.Glu680Val) c.*2495A>T (n.*2495A>T) c.3893A>T (p.Glu1298Val) c.3875A>T (p.Glu1292Val) | |
22 | g.50721730G>A | CA515263324 | SHANK3 | c.3498G>A (p.Glu1166=) n.4082G>A c.2550G>A (p.Glu850=) c.2040G>A (p.Glu680=) c.*2496G>A (n.*2496G>A) c.3894G>A (p.Glu1298=) c.3876G>A (p.Glu1292=) | |
22 | g.50721730G>C | CA515263326 | SHANK3 | c.3498G>C (p.Glu1166Asp) n.4082G>C c.2550G>C (p.Glu850Asp) c.2040G>C (p.Glu680Asp) c.*2496G>C (n.*2496G>C) c.3894G>C (p.Glu1298Asp) c.3876G>C (p.Glu1292Asp) | |
22 | g.50721730G>T | CA515263325 | SHANK3 | c.3498G>T (p.Glu1166Asp) n.4082G>T c.2550G>T (p.Glu850Asp) c.2040G>T (p.Glu680Asp) c.*2496G>T (n.*2496G>T) c.3894G>T (p.Glu1298Asp) c.3876G>T (p.Glu1292Asp) | |
22 | g.50721731G>A | CA515263327 | SHANK3 | c.3499G>A (p.Glu1167Lys) n.4083G>A c.2551G>A (p.Glu851Lys) c.2041G>A (p.Glu681Lys) c.*2497G>A (n.*2497G>A) c.3895G>A (p.Glu1299Lys) c.3877G>A (p.Glu1293Lys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721731G>C | CA515263329 | SHANK3 | c.3499G>C (p.Glu1167Gln) n.4083G>C c.2551G>C (p.Glu851Gln) c.2041G>C (p.Glu681Gln) c.*2497G>C (n.*2497G>C) c.3895G>C (p.Glu1299Gln) c.3877G>C (p.Glu1293Gln) | |
22 | g.50721731G= | CA2411008422 | SHANK3 | c.3499G= (p.Glu1167=) n.4083G= c.2551G= (p.Glu851=) c.2041G= (p.Glu681=) c.*2497G= (n.*2497G=) c.3895G= (p.Glu1299=) c.3877G= (p.Glu1293=) | |
22 | g.50721731G>T | CA515263328 | SHANK3 | c.3499G>T (p.Glu1167Ter) n.4083G>T c.2551G>T (p.Glu851Ter) c.2041G>T (p.Glu681Ter) c.*2497G>T (n.*2497G>T) c.3895G>T (p.Glu1299Ter) c.3877G>T (p.Glu1293Ter) | |
22 | g.50721732A>C | CA515263330 | SHANK3 | c.3500A>C (p.Glu1167Ala) n.4084A>C c.2552A>C (p.Glu851Ala) c.2042A>C (p.Glu681Ala) c.*2498A>C (n.*2498A>C) c.3896A>C (p.Glu1299Ala) c.3878A>C (p.Glu1293Ala) | |
22 | g.50721732A>G | CA515263332 | SHANK3 | c.3500A>G (p.Glu1167Gly) n.4084A>G c.2552A>G (p.Glu851Gly) c.2042A>G (p.Glu681Gly) c.*2498A>G (n.*2498A>G) c.3896A>G (p.Glu1299Gly) c.3878A>G (p.Glu1293Gly) | gnomAD v4 |
22 | g.50721732A>T | CA515263331 | SHANK3 | c.3500A>T (p.Glu1167Val) n.4084A>T c.2552A>T (p.Glu851Val) c.2042A>T (p.Glu681Val) c.*2498A>T (n.*2498A>T) c.3896A>T (p.Glu1299Val) c.3878A>T (p.Glu1293Val) | |
22 | g.50721733G>A | CA515263333 | SHANK3 | c.3501G>A (p.Glu1167=) n.4085G>A c.2553G>A (p.Glu851=) c.2043G>A (p.Glu681=) c.*2499G>A (n.*2499G>A) c.3897G>A (p.Glu1299=) c.3879G>A (p.Glu1293=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721733G>C | CA515263334 | SHANK3 | c.3501G>C (p.Glu1167Asp) n.4085G>C c.2553G>C (p.Glu851Asp) c.2043G>C (p.Glu681Asp) c.*2499G>C (n.*2499G>C) c.3897G>C (p.Glu1299Asp) c.3879G>C (p.Glu1293Asp) | gnomAD v4 |
22 | g.50721733G= | CA2411008423 | SHANK3 | c.3501G= (p.Glu1167=) n.4085G= c.2553G= (p.Glu851=) c.2043G= (p.Glu681=) c.*2499G= (n.*2499G=) c.3897G= (p.Glu1299=) c.3879G= (p.Glu1293=) | |
22 | g.50721733G>T | CA515263335 | SHANK3 | c.3501G>T (p.Glu1167Asp) n.4085G>T c.2553G>T (p.Glu851Asp) c.2043G>T (p.Glu681Asp) c.*2499G>T (n.*2499G>T) c.3897G>T (p.Glu1299Asp) c.3879G>T (p.Glu1293Asp) | |
22 | g.50721734C>A | CA515263336 | SHANK3 | c.3502C>A (p.Leu1168Met) n.4086C>A c.2554C>A (p.Leu852Met) c.2044C>A (p.Leu682Met) c.*2500C>A (n.*2500C>A) c.3898C>A (p.Leu1300Met) c.3880C>A (p.Leu1294Met) | |
22 | g.50721734C= | CA2411008424 | SHANK3 | c.3502C= (p.Leu1168=) n.4086C= c.2554C= (p.Leu852=) c.2044C= (p.Leu682=) c.*2500C= (n.*2500C=) c.3898C= (p.Leu1300=) c.3880C= (p.Leu1294=) | |
22 | g.50721734C>G | CA515263337 | SHANK3 | c.3502C>G (p.Leu1168Val) n.4086C>G c.2554C>G (p.Leu852Val) c.2044C>G (p.Leu682Val) c.*2500C>G (n.*2500C>G) c.3898C>G (p.Leu1300Val) c.3880C>G (p.Leu1294Val) | |
22 | g.50721734C>T | CA515263338 | SHANK3 | c.3502C>T (p.Leu1168=) n.4086C>T c.2554C>T (p.Leu852=) c.2044C>T (p.Leu682=) c.*2500C>T (n.*2500C>T) c.3898C>T (p.Leu1300=) c.3880C>T (p.Leu1294=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721735T>A | CA515263339 | SHANK3 | c.3503T>A (p.Leu1168Gln) n.4087T>A c.2555T>A (p.Leu852Gln) c.2045T>A (p.Leu682Gln) c.*2501T>A (n.*2501T>A) c.3899T>A (p.Leu1300Gln) c.3881T>A (p.Leu1294Gln) | |
22 | g.50721735T>C | CA515263340 | SHANK3 | c.3503T>C (p.Leu1168Pro) n.4087T>C c.2555T>C (p.Leu852Pro) c.2045T>C (p.Leu682Pro) c.*2501T>C (n.*2501T>C) c.3899T>C (p.Leu1300Pro) c.3881T>C (p.Leu1294Pro) | |
22 | g.50721735T>G | CA515263341 | SHANK3 | c.3503T>G (p.Leu1168Arg) n.4087T>G c.2555T>G (p.Leu852Arg) c.2045T>G (p.Leu682Arg) c.*2501T>G (n.*2501T>G) c.3899T>G (p.Leu1300Arg) c.3881T>G (p.Leu1294Arg) | |
22 | g.50721736G>A | CA515263342 | SHANK3 | c.3504G>A (p.Leu1168=) n.4088G>A c.2556G>A (p.Leu852=) c.2046G>A (p.Leu682=) c.*2502G>A (n.*2502G>A) c.3900G>A (p.Leu1300=) c.3882G>A (p.Leu1294=) | dbSNP gnomAD v4 |
22 | g.50721736G>C | CA515263343 | SHANK3 | c.3504G>C (p.Leu1168=) n.4088G>C c.2556G>C (p.Leu852=) c.2046G>C (p.Leu682=) c.*2502G>C (n.*2502G>C) c.3900G>C (p.Leu1300=) c.3882G>C (p.Leu1294=) | |
22 | g.50721736G= | CA2411008425 | SHANK3 | c.3504G= (p.Leu1168=) n.4088G= c.2556G= (p.Leu852=) c.2046G= (p.Leu682=) c.*2502G= (n.*2502G=) c.3900G= (p.Leu1300=) c.3882G= (p.Leu1294=) | |
22 | g.50721736G>T | CA515263344 | SHANK3 | c.3504G>T (p.Leu1168=) n.4088G>T c.2556G>T (p.Leu852=) c.2046G>T (p.Leu682=) c.*2502G>T (n.*2502G>T) c.3900G>T (p.Leu1300=) c.3882G>T (p.Leu1294=) | gnomAD v4 |
22 | g.50721737G>A | CA515263345 | SHANK3 | c.3505G>A (p.Ala1169Thr) n.4089G>A c.2557G>A (p.Ala853Thr) c.2047G>A (p.Ala683Thr) c.*2503G>A (n.*2503G>A) c.3901G>A (p.Ala1301Thr) c.3883G>A (p.Ala1295Thr) | dbSNP |
22 | g.50721737G>C | CA515263347 | SHANK3 | c.3505G>C (p.Ala1169Pro) n.4089G>C c.2557G>C (p.Ala853Pro) c.2047G>C (p.Ala683Pro) c.*2503G>C (n.*2503G>C) c.3901G>C (p.Ala1301Pro) c.3883G>C (p.Ala1295Pro) | |
22 | g.50721737G= | CA2411008426 | SHANK3 | c.3505G= (p.Ala1169=) n.4089G= c.2557G= (p.Ala853=) c.2047G= (p.Ala683=) c.*2503G= (n.*2503G=) c.3901G= (p.Ala1301=) c.3883G= (p.Ala1295=) | |
22 | g.50721737G>T | CA515263346 | SHANK3 | c.3505G>T (p.Ala1169Ser) n.4089G>T c.2557G>T (p.Ala853Ser) c.2047G>T (p.Ala683Ser) c.*2503G>T (n.*2503G>T) c.3901G>T (p.Ala1301Ser) c.3883G>T (p.Ala1295Ser) | |
22 | g.50721738C>A | CA515263348 | SHANK3 | c.3506C>A (p.Ala1169Asp) n.4090C>A c.2558C>A (p.Ala853Asp) c.2048C>A (p.Ala683Asp) c.*2504C>A (n.*2504C>A) c.3902C>A (p.Ala1301Asp) c.3884C>A (p.Ala1295Asp) | |
22 | g.50721738C= | CA2411008427 | SHANK3 | c.3506C= (p.Ala1169=) n.4090C= c.2558C= (p.Ala853=) c.2048C= (p.Ala683=) c.*2504C= (n.*2504C=) c.3902C= (p.Ala1301=) c.3884C= (p.Ala1295=) | |
22 | g.50721738C>G | CA515263349 | SHANK3 | c.3506C>G (p.Ala1169Gly) n.4090C>G c.2558C>G (p.Ala853Gly) c.2048C>G (p.Ala683Gly) c.*2504C>G (n.*2504C>G) c.3902C>G (p.Ala1301Gly) c.3884C>G (p.Ala1295Gly) | |
22 | g.50721738C>T | CA10326171 | SHANK3 | c.3506C>T (p.Ala1169Val) n.4090C>T c.2558C>T (p.Ala853Val) c.2048C>T (p.Ala683Val) c.*2504C>T (n.*2504C>T) c.3902C>T (p.Ala1301Val) c.3884C>T (p.Ala1295Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721739C>A | CA515263350 | SHANK3 | c.3507C>A (p.Ala1169=) n.4091C>A c.2559C>A (p.Ala853=) c.2049C>A (p.Ala683=) c.*2505C>A (n.*2505C>A) c.3903C>A (p.Ala1301=) c.3885C>A (p.Ala1295=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721739C= | CA2411008428 | SHANK3 | c.3507C= (p.Ala1169=) n.4091C= c.2559C= (p.Ala853=) c.2049C= (p.Ala683=) c.*2505C= (n.*2505C=) c.3903C= (p.Ala1301=) c.3885C= (p.Ala1295=) | |
22 | g.50721739C>G | CA515263351 | SHANK3 | c.3507C>G (p.Ala1169=) n.4091C>G c.2559C>G (p.Ala853=) c.2049C>G (p.Ala683=) c.*2505C>G (n.*2505C>G) c.3903C>G (p.Ala1301=) c.3885C>G (p.Ala1295=) | |
22 | g.50721739C>T | CA10326172 | SHANK3 | c.3507C>T (p.Ala1169=) n.4091C>T c.2559C>T (p.Ala853=) c.2049C>T (p.Ala683=) c.*2505C>T (n.*2505C>T) c.3903C>T (p.Ala1301=) c.3885C>T (p.Ala1295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721740C>A | CA515263352 | SHANK3 | c.3508C>A (p.Arg1170=) n.4092C>A c.2560C>A (p.Arg854=) c.2050C>A (p.Arg684=) c.*2506C>A (n.*2506C>A) c.3904C>A (p.Arg1302=) c.3886C>A (p.Arg1296=) | gnomAD v4 |
22 | g.50721740C= | CA2411008429 | SHANK3 | c.3508C= (p.Arg1170=) n.4092C= c.2560C= (p.Arg854=) c.2050C= (p.Arg684=) c.*2506C= (n.*2506C=) c.3904C= (p.Arg1302=) c.3886C= (p.Arg1296=) | |
22 | g.50721740C>G | CA515263353 | SHANK3 | c.3508C>G (p.Arg1170Gly) n.4092C>G c.2560C>G (p.Arg854Gly) c.2050C>G (p.Arg684Gly) c.*2506C>G (n.*2506C>G) c.3904C>G (p.Arg1302Gly) c.3886C>G (p.Arg1296Gly) | dbSNP |
22 | g.50721740C>T | CA515263354 | SHANK3 | c.3508C>T (p.Arg1170Ter) n.4092C>T c.2560C>T (p.Arg854Ter) c.2050C>T (p.Arg684Ter) c.*2506C>T (n.*2506C>T) c.3904C>T (p.Arg1302Ter) c.3886C>T (p.Arg1296Ter) | ClinVar dbSNP gnomAD v2 |
22 | g.50721741G>A | CA10326173 | SHANK3 | c.3509G>A (p.Arg1170Gln) n.4093G>A c.2561G>A (p.Arg854Gln) c.2051G>A (p.Arg684Gln) c.*2507G>A (n.*2507G>A) c.3905G>A (p.Arg1302Gln) c.3887G>A (p.Arg1296Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.50721741G>C | CA515263356 | SHANK3 | c.3509G>C (p.Arg1170Pro) n.4093G>C c.2561G>C (p.Arg854Pro) c.2051G>C (p.Arg684Pro) c.*2507G>C (n.*2507G>C) c.3905G>C (p.Arg1302Pro) c.3887G>C (p.Arg1296Pro) | |
22 | g.50721741G= | CA2411008430 | SHANK3 | c.3509G= (p.Arg1170=) n.4093G= c.2561G= (p.Arg854=) c.2051G= (p.Arg684=) c.*2507G= (n.*2507G=) c.3905G= (p.Arg1302=) c.3887G= (p.Arg1296=) | |
22 | g.50721741G>T | CA515263355 | SHANK3 | c.3509G>T (p.Arg1170Leu) n.4093G>T c.2561G>T (p.Arg854Leu) c.2051G>T (p.Arg684Leu) c.*2507G>T (n.*2507G>T) c.3905G>T (p.Arg1302Leu) c.3887G>T (p.Arg1296Leu) | gnomAD v4 |
22 | g.50721742A= | CA2411008431 | SHANK3 | c.3510A= (p.Arg1170=) n.4094A= c.2562A= (p.Arg854=) c.2052A= (p.Arg684=) c.*2508A= (n.*2508A=) c.3906A= (p.Arg1302=) c.3888A= (p.Arg1296=) | |
22 | g.50721742A>C | CA515263357 | SHANK3 | c.3510A>C (p.Arg1170=) n.4094A>C c.2562A>C (p.Arg854=) c.2052A>C (p.Arg684=) c.*2508A>C (n.*2508A>C) c.3906A>C (p.Arg1302=) c.3888A>C (p.Arg1296=) | |
22 | g.50721742A>G | CA515263358 | SHANK3 | c.3510A>G (p.Arg1170=) n.4094A>G c.2562A>G (p.Arg854=) c.2052A>G (p.Arg684=) c.*2508A>G (n.*2508A>G) c.3906A>G (p.Arg1302=) c.3888A>G (p.Arg1296=) | |
22 | g.50721742A>T | CA10326174 | SHANK3 | c.3510A>T (p.Arg1170=) n.4094A>T c.2562A>T (p.Arg854=) c.2052A>T (p.Arg684=) c.*2508A>T (n.*2508A>T) c.3906A>T (p.Arg1302=) c.3888A>T (p.Arg1296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721743A>C | CA515263359 | SHANK3 | c.3511A>C (p.Ile1171Leu) n.4095A>C c.2563A>C (p.Ile855Leu) c.2053A>C (p.Ile685Leu) c.*2509A>C (n.*2509A>C) c.3907A>C (p.Ile1303Leu) c.3889A>C (p.Ile1297Leu) | |
22 | g.50721743A>G | CA515263360 | SHANK3 | c.3511A>G (p.Ile1171Val) n.4095A>G c.2563A>G (p.Ile855Val) c.2053A>G (p.Ile685Val) c.*2509A>G (n.*2509A>G) c.3907A>G (p.Ile1303Val) c.3889A>G (p.Ile1297Val) | |
22 | g.50721743A>T | CA515263361 | SHANK3 | c.3511A>T (p.Ile1171Phe) n.4095A>T c.2563A>T (p.Ile855Phe) c.2053A>T (p.Ile685Phe) c.*2509A>T (n.*2509A>T) c.3907A>T (p.Ile1303Phe) c.3889A>T (p.Ile1297Phe) | |
22 | g.50721744T>A | CA515263362 | SHANK3 | c.3512T>A (p.Ile1171Asn) n.4096T>A c.2564T>A (p.Ile855Asn) c.2054T>A (p.Ile685Asn) c.*2510T>A (n.*2510T>A) c.3908T>A (p.Ile1303Asn) c.3890T>A (p.Ile1297Asn) | |
22 | g.50721744T>C | CA515263363 | SHANK3 | c.3512T>C (p.Ile1171Thr) n.4096T>C c.2564T>C (p.Ile855Thr) c.2054T>C (p.Ile685Thr) c.*2510T>C (n.*2510T>C) c.3908T>C (p.Ile1303Thr) c.3890T>C (p.Ile1297Thr) | |
22 | g.50721744T>G | CA515263364 | SHANK3 | c.3512T>G (p.Ile1171Ser) n.4096T>G c.2564T>G (p.Ile855Ser) c.2054T>G (p.Ile685Ser) c.*2510T>G (n.*2510T>G) c.3908T>G (p.Ile1303Ser) c.3890T>G (p.Ile1297Ser) | |
22 | g.50721745T>A | CA515263365 | SHANK3 | c.3513T>A (p.Ile1171=) n.4097T>A c.2565T>A (p.Ile855=) c.2055T>A (p.Ile685=) c.*2511T>A (n.*2511T>A) c.3909T>A (p.Ile1303=) c.3891T>A (p.Ile1297=) | |
22 | g.50721745T>C | CA515263366 | SHANK3 | c.3513T>C (p.Ile1171=) n.4097T>C c.2565T>C (p.Ile855=) c.2055T>C (p.Ile685=) c.*2511T>C (n.*2511T>C) c.3909T>C (p.Ile1303=) c.3891T>C (p.Ile1297=) | |
22 | g.50721745T>G | CA515263367 | SHANK3 | c.3513T>G (p.Ile1171Met) n.4097T>G c.2565T>G (p.Ile855Met) c.2055T>G (p.Ile685Met) c.*2511T>G (n.*2511T>G) c.3909T>G (p.Ile1303Met) c.3891T>G (p.Ile1297Met) | |
22 | g.50721746G>A | CA515263370 | SHANK3 | c.3514G>A (p.Gly1172Arg) n.4098G>A c.2566G>A (p.Gly856Arg) c.2056G>A (p.Gly686Arg) c.*2512G>A (n.*2512G>A) c.3910G>A (p.Gly1304Arg) c.3892G>A (p.Gly1298Arg) | |
22 | g.50721746G>C | CA515263368 | SHANK3 | c.3514G>C (p.Gly1172Arg) n.4098G>C c.2566G>C (p.Gly856Arg) c.2056G>C (p.Gly686Arg) c.*2512G>C (n.*2512G>C) c.3910G>C (p.Gly1304Arg) c.3892G>C (p.Gly1298Arg) | |
22 | g.50721746G= | CA2411008432 | SHANK3 | c.3514G= (p.Gly1172=) n.4098G= c.2566G= (p.Gly856=) c.2056G= (p.Gly686=) c.*2512G= (n.*2512G=) c.3910G= (p.Gly1304=) c.3892G= (p.Gly1298=) | |
22 | g.50721746G>T | CA515263369 | SHANK3 | c.3514G>T (p.Gly1172Trp) n.4098G>T c.2566G>T (p.Gly856Trp) c.2056G>T (p.Gly686Trp) c.*2512G>T (n.*2512G>T) c.3910G>T (p.Gly1304Trp) c.3892G>T (p.Gly1298Trp) | dbSNP gnomAD v4 |
22 | g.50721747G>A | CA515263371 | SHANK3 | c.3515G>A (p.Gly1172Glu) n.4099G>A c.2567G>A (p.Gly856Glu) c.2057G>A (p.Gly686Glu) c.*2513G>A (n.*2513G>A) c.3911G>A (p.Gly1304Glu) c.3893G>A (p.Gly1298Glu) | |
22 | g.50721747G>C | CA515263372 | SHANK3 | c.3515G>C (p.Gly1172Ala) n.4099G>C c.2567G>C (p.Gly856Ala) c.2057G>C (p.Gly686Ala) c.*2513G>C (n.*2513G>C) c.3911G>C (p.Gly1304Ala) c.3893G>C (p.Gly1298Ala) | |
22 | g.50721747G>T | CA515263373 | SHANK3 | c.3515G>T (p.Gly1172Val) n.4099G>T c.2567G>T (p.Gly856Val) c.2057G>T (p.Gly686Val) c.*2513G>T (n.*2513G>T) c.3911G>T (p.Gly1304Val) c.3893G>T (p.Gly1298Val) | gnomAD v4 |
22 | g.50721748G>A | CA10326175 | SHANK3 | c.3516G>A (p.Gly1172=) n.4100G>A c.2568G>A (p.Gly856=) c.2058G>A (p.Gly686=) c.*2514G>A (n.*2514G>A) c.3912G>A (p.Gly1304=) c.3894G>A (p.Gly1298=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721748G>C | CA515263374 | SHANK3 | c.3516G>C (p.Gly1172=) n.4100G>C c.2568G>C (p.Gly856=) c.2058G>C (p.Gly686=) c.*2514G>C (n.*2514G>C) c.3912G>C (p.Gly1304=) c.3894G>C (p.Gly1298=) | |
22 | g.50721748G= | CA2411008433 | SHANK3 | c.3516G= (p.Gly1172=) n.4100G= c.2568G= (p.Gly856=) c.2058G= (p.Gly686=) c.*2514G= (n.*2514G=) c.3912G= (p.Gly1304=) c.3894G= (p.Gly1298=) | |
22 | g.50721748G>T | CA515263375 | SHANK3 | c.3516G>T (p.Gly1172=) n.4100G>T c.2568G>T (p.Gly856=) c.2058G>T (p.Gly686=) c.*2514G>T (n.*2514G>T) c.3912G>T (p.Gly1304=) c.3894G>T (p.Gly1298=) | |
22 | g.50721749T>A | CA515263376 | SHANK3 | c.3517T>A (p.Leu1173Met) n.4101T>A c.2569T>A (p.Leu857Met) c.2059T>A (p.Leu687Met) c.*2515T>A (n.*2515T>A) c.3913T>A (p.Leu1305Met) c.3895T>A (p.Leu1299Met) | |
22 | g.50721749T>C | CA515263377 | SHANK3 | c.3517T>C (p.Leu1173=) n.4101T>C c.2569T>C (p.Leu857=) c.2059T>C (p.Leu687=) c.*2515T>C (n.*2515T>C) c.3913T>C (p.Leu1305=) c.3895T>C (p.Leu1299=) | |
22 | g.50721749T>G | CA515263378 | SHANK3 | c.3517T>G (p.Leu1173Val) n.4101T>G c.2569T>G (p.Leu857Val) c.2059T>G (p.Leu687Val) c.*2515T>G (n.*2515T>G) c.3913T>G (p.Leu1305Val) c.3895T>G (p.Leu1299Val) | |
22 | g.50721750T>A | CA515263379 | SHANK3 | c.3518T>A (p.Leu1173Ter) n.4102T>A c.2570T>A (p.Leu857Ter) c.2060T>A (p.Leu687Ter) c.*2516T>A (n.*2516T>A) c.3914T>A (p.Leu1305Ter) c.3896T>A (p.Leu1299Ter) | |
22 | g.50721750T>C | CA515263380 | SHANK3 | c.3518T>C (p.Leu1173Ser) n.4102T>C c.2570T>C (p.Leu857Ser) c.2060T>C (p.Leu687Ser) c.*2516T>C (n.*2516T>C) c.3914T>C (p.Leu1305Ser) c.3896T>C (p.Leu1299Ser) | |
22 | g.50721750T>G | CA515263381 | SHANK3 | c.3518T>G (p.Leu1173Trp) n.4102T>G c.2570T>G (p.Leu857Trp) c.2060T>G (p.Leu687Trp) c.*2516T>G (n.*2516T>G) c.3914T>G (p.Leu1305Trp) c.3896T>G (p.Leu1299Trp) | |
22 | g.50721751G>A | CA515263384 | SHANK3 | c.3519G>A (p.Leu1173=) n.4103G>A c.2571G>A (p.Leu857=) c.2061G>A (p.Leu687=) c.*2517G>A (n.*2517G>A) c.3915G>A (p.Leu1305=) c.3897G>A (p.Leu1299=) | |
22 | g.50721751G>C | CA515263383 | SHANK3 | c.3519G>C (p.Leu1173Phe) n.4103G>C c.2571G>C (p.Leu857Phe) c.2061G>C (p.Leu687Phe) c.*2517G>C (n.*2517G>C) c.3915G>C (p.Leu1305Phe) c.3897G>C (p.Leu1299Phe) | |
22 | g.50721751G>T | CA515263382 | SHANK3 | c.3519G>T (p.Leu1173Phe) n.4103G>T c.2571G>T (p.Leu857Phe) c.2061G>T (p.Leu687Phe) c.*2517G>T (n.*2517G>T) c.3915G>T (p.Leu1305Phe) c.3897G>T (p.Leu1299Phe) | gnomAD v4 |
22 | g.50721752G>A | CA515263385 | SHANK3 | c.3520G>A (p.Val1174Met) n.4104G>A c.2572G>A (p.Val858Met) c.2062G>A (p.Val688Met) c.*2518G>A (n.*2518G>A) c.3916G>A (p.Val1306Met) c.3898G>A (p.Val1300Met) | |
22 | g.50721752G>C | CA515263386 | SHANK3 | c.3520G>C (p.Val1174Leu) n.4104G>C c.2572G>C (p.Val858Leu) c.2062G>C (p.Val688Leu) c.*2518G>C (n.*2518G>C) c.3916G>C (p.Val1306Leu) c.3898G>C (p.Val1300Leu) | dbSNP |
22 | g.50721752G= | CA2411008434 | SHANK3 | c.3520G= (p.Val1174=) n.4104G= c.2572G= (p.Val858=) c.2062G= (p.Val688=) c.*2518G= (n.*2518G=) c.3916G= (p.Val1306=) c.3898G= (p.Val1300=) | |
22 | g.50721752G>T | CA10326176 | SHANK3 | c.3520G>T (p.Val1174Leu) n.4104G>T c.2572G>T (p.Val858Leu) c.2062G>T (p.Val688Leu) c.*2518G>T (n.*2518G>T) c.3916G>T (p.Val1306Leu) c.3898G>T (p.Val1300Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721753T>A | CA515263387 | SHANK3 | c.3521T>A (p.Val1174Glu) n.4105T>A c.2573T>A (p.Val858Glu) c.2063T>A (p.Val688Glu) c.*2519T>A (n.*2519T>A) c.3917T>A (p.Val1306Glu) c.3899T>A (p.Val1300Glu) | |
22 | g.50721753T>C | CA515263388 | SHANK3 | c.3521T>C (p.Val1174Ala) n.4105T>C c.2573T>C (p.Val858Ala) c.2063T>C (p.Val688Ala) c.*2519T>C (n.*2519T>C) c.3917T>C (p.Val1306Ala) c.3899T>C (p.Val1300Ala) | |
22 | g.50721753T>G | CA515263389 | SHANK3 | c.3521T>G (p.Val1174Gly) n.4105T>G c.2573T>G (p.Val858Gly) c.2063T>G (p.Val688Gly) c.*2519T>G (n.*2519T>G) c.3917T>G (p.Val1306Gly) c.3899T>G (p.Val1300Gly) | |
22 | g.50721754G>A | CA515263390 | SHANK3 | c.3522G>A (p.Val1174=) n.4106G>A c.2574G>A (p.Val858=) c.2064G>A (p.Val688=) c.*2520G>A (n.*2520G>A) c.3918G>A (p.Val1306=) c.3900G>A (p.Val1300=) | |
22 | g.50721754G>C | CA515263391 | SHANK3 | c.3522G>C (p.Val1174=) n.4106G>C c.2574G>C (p.Val858=) c.2064G>C (p.Val688=) c.*2520G>C (n.*2520G>C) c.3918G>C (p.Val1306=) c.3900G>C (p.Val1300=) | |
22 | g.50721754G>T | CA515263392 | SHANK3 | c.3522G>T (p.Val1174=) n.4106G>T c.2574G>T (p.Val858=) c.2064G>T (p.Val688=) c.*2520G>T (n.*2520G>T) c.3918G>T (p.Val1306=) c.3900G>T (p.Val1300=) | |
22 | g.50721755C>A | CA515263393 | SHANK3 | c.3523C>A (p.Pro1175Thr) n.4107C>A c.2575C>A (p.Pro859Thr) c.2065C>A (p.Pro689Thr) c.*2521C>A (n.*2521C>A) c.3919C>A (p.Pro1307Thr) c.3901C>A (p.Pro1301Thr) | gnomAD v4 |
22 | g.50721755C>G | CA515263394 | SHANK3 | c.3523C>G (p.Pro1175Ala) n.4107C>G c.2575C>G (p.Pro859Ala) c.2065C>G (p.Pro689Ala) c.*2521C>G (n.*2521C>G) c.3919C>G (p.Pro1307Ala) c.3901C>G (p.Pro1301Ala) | |
22 | g.50721755C>T | CA515263395 | SHANK3 | c.3523C>T (p.Pro1175Ser) n.4107C>T c.2575C>T (p.Pro859Ser) c.2065C>T (p.Pro689Ser) c.*2521C>T (n.*2521C>T) c.3919C>T (p.Pro1307Ser) c.3901C>T (p.Pro1301Ser) | gnomAD v4 |
22 | g.50721756C>A | CA515263396 | SHANK3 | c.3524C>A (p.Pro1175Gln) n.4108C>A c.2576C>A (p.Pro859Gln) c.2066C>A (p.Pro689Gln) c.*2522C>A (n.*2522C>A) c.3920C>A (p.Pro1307Gln) c.3902C>A (p.Pro1301Gln) | |
22 | g.50721756C= | CA2411008435 | SHANK3 | c.3524C= (p.Pro1175=) n.4108C= c.2576C= (p.Pro859=) c.2066C= (p.Pro689=) c.*2522C= (n.*2522C=) c.3920C= (p.Pro1307=) c.3902C= (p.Pro1301=) | |
22 | g.50721756C>G | CA515263397 | SHANK3 | c.3524C>G (p.Pro1175Arg) n.4108C>G c.2576C>G (p.Pro859Arg) c.2066C>G (p.Pro689Arg) c.*2522C>G (n.*2522C>G) c.3920C>G (p.Pro1307Arg) c.3902C>G (p.Pro1301Arg) | |
22 | g.50721756C>T | CA10326177 | SHANK3 | c.3524C>T (p.Pro1175Leu) n.4108C>T c.2576C>T (p.Pro859Leu) c.2066C>T (p.Pro689Leu) c.*2522C>T (n.*2522C>T) c.3920C>T (p.Pro1307Leu) c.3902C>T (p.Pro1301Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721757A>C | CA515263398 | SHANK3 | c.3525A>C (p.Pro1175=) n.4109A>C c.2577A>C (p.Pro859=) c.2067A>C (p.Pro689=) c.*2523A>C (n.*2523A>C) c.3921A>C (p.Pro1307=) c.3903A>C (p.Pro1301=) | |
22 | g.50721757A>G | CA515263400 | SHANK3 | c.3525A>G (p.Pro1175=) n.4109A>G c.2577A>G (p.Pro859=) c.2067A>G (p.Pro689=) c.*2523A>G (n.*2523A>G) c.3921A>G (p.Pro1307=) c.3903A>G (p.Pro1301=) | gnomAD v4 |
22 | g.50721757A>T | CA515263399 | SHANK3 | c.3525A>T (p.Pro1175=) n.4109A>T c.2577A>T (p.Pro859=) c.2067A>T (p.Pro689=) c.*2523A>T (n.*2523A>T) c.3921A>T (p.Pro1307=) c.3903A>T (p.Pro1301=) | |
22 | g.50721758C>A | CA515263401 | SHANK3 | c.3526C>A (p.Pro1176Thr) n.4110C>A c.2578C>A (p.Pro860Thr) c.2068C>A (p.Pro690Thr) c.*2524C>A (n.*2524C>A) c.3922C>A (p.Pro1308Thr) c.3904C>A (p.Pro1302Thr) | |
22 | g.50721758C= | CA2411008436 | SHANK3 | c.3526C= (p.Pro1176=) n.4110C= c.2578C= (p.Pro860=) c.2068C= (p.Pro690=) c.*2524C= (n.*2524C=) c.3922C= (p.Pro1308=) c.3904C= (p.Pro1302=) | |
22 | g.50721758C>G | CA515263402 | SHANK3 | c.3526C>G (p.Pro1176Ala) n.4110C>G c.2578C>G (p.Pro860Ala) c.2068C>G (p.Pro690Ala) c.*2524C>G (n.*2524C>G) c.3922C>G (p.Pro1308Ala) c.3904C>G (p.Pro1302Ala) | |
22 | g.50721758C>T | CA515263403 | SHANK3 | c.3526C>T (p.Pro1176Ser) n.4110C>T c.2578C>T (p.Pro860Ser) c.2068C>T (p.Pro690Ser) c.*2524C>T (n.*2524C>T) c.3922C>T (p.Pro1308Ser) c.3904C>T (p.Pro1302Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721762del | CA645619944 | SHANK3 | c.3530del (p.Pro1177LeufsTer?) n.4114del c.2582del (p.Pro861LeufsTer?) c.2072del (p.Pro691LeufsTer?) c.*2528del (n.*2528del) c.3926del (p.Pro1309LeufsTer?) c.3908del (p.Pro1303LeufsTer?) | COSMIC COSMIC |
22 | g.50721759C>A | CA515263404 | SHANK3 | c.3527C>A (p.Pro1176His) n.4111C>A c.2579C>A (p.Pro860His) c.2069C>A (p.Pro690His) c.*2525C>A (n.*2525C>A) c.3923C>A (p.Pro1308His) c.3905C>A (p.Pro1302His) | |
22 | g.50721759C= | CA2411008437 | SHANK3 | c.3527C= (p.Pro1176=) n.4111C= c.2579C= (p.Pro860=) c.2069C= (p.Pro690=) c.*2525C= (n.*2525C=) c.3923C= (p.Pro1308=) c.3905C= (p.Pro1302=) | |
22 | g.50721759C>G | CA515263405 | SHANK3 | c.3527C>G (p.Pro1176Arg) n.4111C>G c.2579C>G (p.Pro860Arg) c.2069C>G (p.Pro690Arg) c.*2525C>G (n.*2525C>G) c.3923C>G (p.Pro1308Arg) c.3905C>G (p.Pro1302Arg) | |
22 | g.50721759C>T | CA515263406 | SHANK3 | c.3527C>T (p.Pro1176Leu) n.4111C>T c.2579C>T (p.Pro860Leu) c.2069C>T (p.Pro690Leu) c.*2525C>T (n.*2525C>T) c.3923C>T (p.Pro1308Leu) c.3905C>T (p.Pro1302Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721760C>A | CA515263407 | SHANK3 | c.3528C>A (p.Pro1176=) n.4112C>A c.2580C>A (p.Pro860=) c.2070C>A (p.Pro690=) c.*2526C>A (n.*2526C>A) c.3924C>A (p.Pro1308=) c.3906C>A (p.Pro1302=) | gnomAD v4 |
22 | g.50721760C= | CA2411008438 | SHANK3 | c.3528C= (p.Pro1176=) n.4112C= c.2580C= (p.Pro860=) c.2070C= (p.Pro690=) c.*2526C= (n.*2526C=) c.3924C= (p.Pro1308=) c.3906C= (p.Pro1302=) | |
22 | g.50721760C>G | CA515263408 | SHANK3 | c.3528C>G (p.Pro1176=) n.4112C>G c.2580C>G (p.Pro860=) c.2070C>G (p.Pro690=) c.*2526C>G (n.*2526C>G) c.3924C>G (p.Pro1308=) c.3906C>G (p.Pro1302=) | |
22 | g.50721760C>T | CA515263409 | SHANK3 | c.3528C>T (p.Pro1176=) n.4112C>T c.2580C>T (p.Pro860=) c.2070C>T (p.Pro690=) c.*2526C>T (n.*2526C>T) c.3924C>T (p.Pro1308=) c.3906C>T (p.Pro1302=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721761C>A | CA515263411 | SHANK3 | c.3529C>A (p.Pro1177Thr) n.4113C>A c.2581C>A (p.Pro861Thr) c.2071C>A (p.Pro691Thr) c.*2527C>A (n.*2527C>A) c.3925C>A (p.Pro1309Thr) c.3907C>A (p.Pro1303Thr) | |
22 | g.50721761C>G | CA515263412 | SHANK3 | c.3529C>G (p.Pro1177Ala) n.4113C>G c.2581C>G (p.Pro861Ala) c.2071C>G (p.Pro691Ala) c.*2527C>G (n.*2527C>G) c.3925C>G (p.Pro1309Ala) c.3907C>G (p.Pro1303Ala) | |
22 | g.50721761C>T | CA515263410 | SHANK3 | c.3529C>T (p.Pro1177Ser) n.4113C>T c.2581C>T (p.Pro861Ser) c.2071C>T (p.Pro691Ser) c.*2527C>T (n.*2527C>T) c.3925C>T (p.Pro1309Ser) c.3907C>T (p.Pro1303Ser) | |
22 | g.50721762C>A | CA515263413 | SHANK3 | c.3530C>A (p.Pro1177His) n.4114C>A c.2582C>A (p.Pro861His) c.2072C>A (p.Pro691His) c.*2528C>A (n.*2528C>A) c.3926C>A (p.Pro1309His) c.3908C>A (p.Pro1303His) | |
22 | g.50721762C>G | CA515263414 | SHANK3 | c.3530C>G (p.Pro1177Arg) n.4114C>G c.2582C>G (p.Pro861Arg) c.2072C>G (p.Pro691Arg) c.*2528C>G (n.*2528C>G) c.3926C>G (p.Pro1309Arg) c.3908C>G (p.Pro1303Arg) | |
22 | g.50721762C>T | CA515263415 | SHANK3 | c.3530C>T (p.Pro1177Leu) n.4114C>T c.2582C>T (p.Pro861Leu) c.2072C>T (p.Pro691Leu) c.*2528C>T (n.*2528C>T) c.3926C>T (p.Pro1309Leu) c.3908C>T (p.Pro1303Leu) | |
22 | g.50721763T>A | CA515263416 | SHANK3 | c.3531T>A (p.Pro1177=) n.4115T>A c.2583T>A (p.Pro861=) c.2073T>A (p.Pro691=) c.*2529T>A (n.*2529T>A) c.3927T>A (p.Pro1309=) c.3909T>A (p.Pro1303=) | |
22 | g.50721763T>C | CA515263417 | SHANK3 | c.3531T>C (p.Pro1177=) n.4115T>C c.2583T>C (p.Pro861=) c.2073T>C (p.Pro691=) c.*2529T>C (n.*2529T>C) c.3927T>C (p.Pro1309=) c.3909T>C (p.Pro1303=) | gnomAD v4 |
22 | g.50721763T>G | CA515263418 | SHANK3 | c.3531T>G (p.Pro1177=) n.4115T>G c.2583T>G (p.Pro861=) c.2073T>G (p.Pro691=) c.*2529T>G (n.*2529T>G) c.3927T>G (p.Pro1309=) c.3909T>G (p.Pro1303=) | |
22 | g.50721763_50721764delinsTG | CA2411008439 | SHANK3 | c.3531_3532delinsTG (p.Pro1177=) n.4115_4116delinsTG c.2583_2584delinsTG (p.Pro861=) c.2073_2074delinsTG (p.Pro691=) c.*2529_*2530delinsTG (n.*2529_*2530delinsTG) c.3927_3928delinsTG (p.Pro1309=) c.3909_3910delinsTG (p.Pro1303=) | |
22 | g.50721764del | CA10575579 | SHANK3 | c.3532del (p.Glu1178LysfsTer?) n.4116del c.2584del (p.Glu862LysfsTer?) c.2074del (p.Glu692LysfsTer?) c.*2530del (n.*2530del) c.3928del (p.Glu1310LysfsTer?) c.3910del (p.Glu1304LysfsTer?) | ClinVar dbSNP |
22 | g.50721764G>A | CA515263419 | SHANK3 | c.3532G>A (p.Glu1178Lys) n.4116G>A c.2584G>A (p.Glu862Lys) c.2074G>A (p.Glu692Lys) c.*2530G>A (n.*2530G>A) c.3928G>A (p.Glu1310Lys) c.3910G>A (p.Glu1304Lys) | |
22 | g.50721764G>C | CA515263420 | SHANK3 | c.3532G>C (p.Glu1178Gln) n.4116G>C c.2584G>C (p.Glu862Gln) c.2074G>C (p.Glu692Gln) c.*2530G>C (n.*2530G>C) c.3928G>C (p.Glu1310Gln) c.3910G>C (p.Glu1304Gln) | gnomAD v4 |
22 | g.50721764G>T | CA515263421 | SHANK3 | c.3532G>T (p.Glu1178Ter) n.4116G>T c.2584G>T (p.Glu862Ter) c.2074G>T (p.Glu692Ter) c.*2530G>T (n.*2530G>T) c.3928G>T (p.Glu1310Ter) c.3910G>T (p.Glu1304Ter) | |
22 | g.50721765A>C | CA515263422 | SHANK3 | c.3533A>C (p.Glu1178Ala) n.4117A>C c.2585A>C (p.Glu862Ala) c.2075A>C (p.Glu692Ala) c.*2531A>C (n.*2531A>C) c.3929A>C (p.Glu1310Ala) c.3911A>C (p.Glu1304Ala) | |
22 | g.50721765A>G | CA515263423 | SHANK3 | c.3533A>G (p.Glu1178Gly) n.4117A>G c.2585A>G (p.Glu862Gly) c.2075A>G (p.Glu692Gly) c.*2531A>G (n.*2531A>G) c.3929A>G (p.Glu1310Gly) c.3911A>G (p.Glu1304Gly) | |
22 | g.50721765A>T | CA515263424 | SHANK3 | c.3533A>T (p.Glu1178Val) n.4117A>T c.2585A>T (p.Glu862Val) c.2075A>T (p.Glu692Val) c.*2531A>T (n.*2531A>T) c.3929A>T (p.Glu1310Val) c.3911A>T (p.Glu1304Val) | |
22 | g.50721765_50721767delinsAAG | CA2411008440 | SHANK3 | c.3533_3535delinsAAG (p.Glu1178=) n.4117_4119delinsAAG c.2585_2587delinsAAG (p.Glu862=) c.2075_2077delinsAAG (p.Glu692=) c.*2531_*2533delinsAAG (n.*2531_*2533delinsAAG) c.3929_3931delinsAAG (p.Glu1310=) c.3911_3913delinsAAG (p.Glu1304=) | |
22 | g.50721766A>C | CA515263427 | SHANK3 | c.3534A>C (p.Glu1178Asp) n.4118A>C c.2586A>C (p.Glu862Asp) c.2076A>C (p.Glu692Asp) c.*2532A>C (n.*2532A>C) c.3930A>C (p.Glu1310Asp) c.3912A>C (p.Glu1304Asp) | |
22 | g.50721766A>G | CA515263426 | SHANK3 | c.3534A>G (p.Glu1178=) n.4118A>G c.2586A>G (p.Glu862=) c.2076A>G (p.Glu692=) c.*2532A>G (n.*2532A>G) c.3930A>G (p.Glu1310=) c.3912A>G (p.Glu1304=) | dbSNP gnomAD v4 |
22 | g.50721766A>T | CA515263425 | SHANK3 | c.3534A>T (p.Glu1178Asp) n.4118A>T c.2586A>T (p.Glu862Asp) c.2076A>T (p.Glu692Asp) c.*2532A>T (n.*2532A>T) c.3930A>T (p.Glu1310Asp) c.3912A>T (p.Glu1304Asp) | |
22 | g.50721768_50721769del | CA915951511 | SHANK3 | c.3536_3537del (p.Glu1179ValfsTer?) n.4120_4121del c.2588_2589del (p.Glu863ValfsTer?) c.2078_2079del (p.Glu693ValfsTer?) c.*2534_*2535del (n.*2534_*2535del) c.3932_3933del (p.Glu1311ValfsTer?) c.3914_3915del (p.Glu1305ValfsTer?) | ClinVar dbSNP |
22 | g.50721767G>A | CA515263428 | SHANK3 | c.3535G>A (p.Glu1179Lys) n.4119G>A c.2587G>A (p.Glu863Lys) c.2077G>A (p.Glu693Lys) c.*2533G>A (n.*2533G>A) c.3931G>A (p.Glu1311Lys) c.3913G>A (p.Glu1305Lys) | |
22 | g.50721767G>C | CA515263429 | SHANK3 | c.3535G>C (p.Glu1179Gln) n.4119G>C c.2587G>C (p.Glu863Gln) c.2077G>C (p.Glu693Gln) c.*2533G>C (n.*2533G>C) c.3931G>C (p.Glu1311Gln) c.3913G>C (p.Glu1305Gln) | gnomAD v4 |
22 | g.50721767G>T | CA515263430 | SHANK3 | c.3535G>T (p.Glu1179Ter) n.4119G>T c.2587G>T (p.Glu863Ter) c.2077G>T (p.Glu693Ter) c.*2533G>T (n.*2533G>T) c.3931G>T (p.Glu1311Ter) c.3913G>T (p.Glu1305Ter) | gnomAD v4 |
22 | g.50721768A= | CA2411008441 | SHANK3 | c.3536A= (p.Glu1179=) n.4120A= c.2588A= (p.Glu863=) c.2078A= (p.Glu693=) c.*2534A= (n.*2534A=) c.3932A= (p.Glu1311=) c.3914A= (p.Glu1305=) | |
22 | g.50721768A>C | CA515263431 | SHANK3 | c.3536A>C (p.Glu1179Ala) n.4120A>C c.2588A>C (p.Glu863Ala) c.2078A>C (p.Glu693Ala) c.*2534A>C (n.*2534A>C) c.3932A>C (p.Glu1311Ala) c.3914A>C (p.Glu1305Ala) | dbSNP gnomAD v4 |
22 | g.50721768A>G | CA515263432 | SHANK3 | c.3536A>G (p.Glu1179Gly) n.4120A>G c.2588A>G (p.Glu863Gly) c.2078A>G (p.Glu693Gly) c.*2534A>G (n.*2534A>G) c.3932A>G (p.Glu1311Gly) c.3914A>G (p.Glu1305Gly) | |
22 | g.50721768A>T | CA515263433 | SHANK3 | c.3536A>T (p.Glu1179Val) n.4120A>T c.2588A>T (p.Glu863Val) c.2078A>T (p.Glu693Val) c.*2534A>T (n.*2534A>T) c.3932A>T (p.Glu1311Val) c.3914A>T (p.Glu1305Val) | |
22 | g.50721769G>A | CA515263434 | SHANK3 | c.3537G>A (p.Glu1179=) n.4121G>A c.2589G>A (p.Glu863=) c.2079G>A (p.Glu693=) c.*2535G>A (n.*2535G>A) c.3933G>A (p.Glu1311=) c.3915G>A (p.Glu1305=) | |
22 | g.50721769G>C | CA515263435 | SHANK3 | c.3537G>C (p.Glu1179Asp) n.4121G>C c.2589G>C (p.Glu863Asp) c.2079G>C (p.Glu693Asp) c.*2535G>C (n.*2535G>C) c.3933G>C (p.Glu1311Asp) c.3915G>C (p.Glu1305Asp) | |
22 | g.50721769G= | CA2411008442 | SHANK3 | c.3537G= (p.Glu1179=) n.4121G= c.2589G= (p.Glu863=) c.2079G= (p.Glu693=) c.*2535G= (n.*2535G=) c.3933G= (p.Glu1311=) c.3915G= (p.Glu1305=) | |
22 | g.50721769G>T | CA515263436 | SHANK3 | c.3537G>T (p.Glu1179Asp) n.4121G>T c.2589G>T (p.Glu863Asp) c.2079G>T (p.Glu693Asp) c.*2535G>T (n.*2535G>T) c.3933G>T (p.Glu1311Asp) c.3915G>T (p.Glu1305Asp) | dbSNP gnomAD v4 |
22 | g.50721770T>A | CA515263437 | SHANK3 | c.3538T>A (p.Phe1180Ile) n.4122T>A c.2590T>A (p.Phe864Ile) c.2080T>A (p.Phe694Ile) c.*2536T>A (n.*2536T>A) c.3934T>A (p.Phe1312Ile) c.3916T>A (p.Phe1306Ile) | |
22 | g.50721770T>C | CA515263438 | SHANK3 | c.3538T>C (p.Phe1180Leu) n.4122T>C c.2590T>C (p.Phe864Leu) c.2080T>C (p.Phe694Leu) c.*2536T>C (n.*2536T>C) c.3934T>C (p.Phe1312Leu) c.3916T>C (p.Phe1306Leu) | |
22 | g.50721770T>G | CA515263439 | SHANK3 | c.3538T>G (p.Phe1180Val) n.4122T>G c.2590T>G (p.Phe864Val) c.2080T>G (p.Phe694Val) c.*2536T>G (n.*2536T>G) c.3934T>G (p.Phe1312Val) c.3916T>G (p.Phe1306Val) | |
22 | g.50721771T>A | CA515263442 | SHANK3 | c.3539T>A (p.Phe1180Tyr) n.4123T>A c.2591T>A (p.Phe864Tyr) c.2081T>A (p.Phe694Tyr) c.*2537T>A (n.*2537T>A) c.3935T>A (p.Phe1312Tyr) c.3917T>A (p.Phe1306Tyr) | gnomAD v4 |
22 | g.50721771T>C | CA515263441 | SHANK3 | c.3539T>C (p.Phe1180Ser) n.4123T>C c.2591T>C (p.Phe864Ser) c.2081T>C (p.Phe694Ser) c.*2537T>C (n.*2537T>C) c.3935T>C (p.Phe1312Ser) c.3917T>C (p.Phe1306Ser) | |
22 | g.50721771T>G | CA515263440 | SHANK3 | c.3539T>G (p.Phe1180Cys) n.4123T>G c.2591T>G (p.Phe864Cys) c.2081T>G (p.Phe694Cys) c.*2537T>G (n.*2537T>G) c.3935T>G (p.Phe1312Cys) c.3917T>G (p.Phe1306Cys) | |
22 | g.50721772T>A | CA515263443 | SHANK3 | c.3540T>A (p.Phe1180Leu) n.4124T>A c.2592T>A (p.Phe864Leu) c.2082T>A (p.Phe694Leu) c.*2538T>A (n.*2538T>A) c.3936T>A (p.Phe1312Leu) c.3918T>A (p.Phe1306Leu) | |
22 | g.50721772T>C | CA515263445 | SHANK3 | c.3540T>C (p.Phe1180=) n.4124T>C c.2592T>C (p.Phe864=) c.2082T>C (p.Phe694=) c.*2538T>C (n.*2538T>C) c.3936T>C (p.Phe1312=) c.3918T>C (p.Phe1306=) | |
22 | g.50721772T>G | CA515263444 | SHANK3 | c.3540T>G (p.Phe1180Leu) n.4124T>G c.2592T>G (p.Phe864Leu) c.2082T>G (p.Phe694Leu) c.*2538T>G (n.*2538T>G) c.3936T>G (p.Phe1312Leu) c.3918T>G (p.Phe1306Leu) | |
22 | g.50721773G>A | CA515263446 | SHANK3 | c.3541G>A (p.Ala1181Thr) n.4125G>A c.2593G>A (p.Ala865Thr) c.2083G>A (p.Ala695Thr) c.*2539G>A (n.*2539G>A) c.3937G>A (p.Ala1313Thr) c.3919G>A (p.Ala1307Thr) | |
22 | g.50721773G>C | CA515263448 | SHANK3 | c.3541G>C (p.Ala1181Pro) n.4125G>C c.2593G>C (p.Ala865Pro) c.2083G>C (p.Ala695Pro) c.*2539G>C (n.*2539G>C) c.3937G>C (p.Ala1313Pro) c.3919G>C (p.Ala1307Pro) | |
22 | g.50721773G>T | CA515263447 | SHANK3 | c.3541G>T (p.Ala1181Ser) n.4125G>T c.2593G>T (p.Ala865Ser) c.2083G>T (p.Ala695Ser) c.*2539G>T (n.*2539G>T) c.3937G>T (p.Ala1313Ser) c.3919G>T (p.Ala1307Ser) | |
22 | g.50721774C>A | CA515263449 | SHANK3 | c.3542C>A (p.Ala1181Asp) n.4126C>A c.2594C>A (p.Ala865Asp) c.2084C>A (p.Ala695Asp) c.*2540C>A (n.*2540C>A) c.3938C>A (p.Ala1313Asp) c.3920C>A (p.Ala1307Asp) | |
22 | g.50721774C>G | CA515263450 | SHANK3 | c.3542C>G (p.Ala1181Gly) n.4126C>G c.2594C>G (p.Ala865Gly) c.2084C>G (p.Ala695Gly) c.*2540C>G (n.*2540C>G) c.3938C>G (p.Ala1313Gly) c.3920C>G (p.Ala1307Gly) | |
22 | g.50721774C>T | CA515263451 | SHANK3 | c.3542C>T (p.Ala1181Val) n.4126C>T c.2594C>T (p.Ala865Val) c.2084C>T (p.Ala695Val) c.*2540C>T (n.*2540C>T) c.3938C>T (p.Ala1313Val) c.3920C>T (p.Ala1307Val) | gnomAD v4 |
22 | g.50721775C>A | CA515263452 | SHANK3 | c.3543C>A (p.Ala1181=) n.4127C>A c.2595C>A (p.Ala865=) c.2085C>A (p.Ala695=) c.*2541C>A (n.*2541C>A) c.3939C>A (p.Ala1313=) c.3921C>A (p.Ala1307=) | gnomAD v4 |
22 | g.50721775C= | CA2411008443 | SHANK3 | c.3543C= (p.Ala1181=) n.4127C= c.2595C= (p.Ala865=) c.2085C= (p.Ala695=) c.*2541C= (n.*2541C=) c.3939C= (p.Ala1313=) c.3921C= (p.Ala1307=) | |
22 | g.50721775C>G | CA515263453 | SHANK3 | c.3543C>G (p.Ala1181=) n.4127C>G c.2595C>G (p.Ala865=) c.2085C>G (p.Ala695=) c.*2541C>G (n.*2541C>G) c.3939C>G (p.Ala1313=) c.3921C>G (p.Ala1307=) | |
22 | g.50721775C>T | CA515263454 | SHANK3 | c.3543C>T (p.Ala1181=) n.4127C>T c.2595C>T (p.Ala865=) c.2085C>T (p.Ala695=) c.*2541C>T (n.*2541C>T) c.3939C>T (p.Ala1313=) c.3921C>T (p.Ala1307=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
22 | g.50721776A= | CA2411008444 | SHANK3 | c.3544A= (p.Asn1182=) n.4128A= c.2596A= (p.Asn866=) c.2086A= (p.Asn696=) c.*2542A= (n.*2542A=) c.3940A= (p.Asn1314=) c.3922A= (p.Asn1308=) | |
22 | g.50721776A>C | CA515263455 | SHANK3 | c.3544A>C (p.Asn1182His) n.4128A>C c.2596A>C (p.Asn866His) c.2086A>C (p.Asn696His) c.*2542A>C (n.*2542A>C) c.3940A>C (p.Asn1314His) c.3922A>C (p.Asn1308His) | dbSNP |
22 | g.50721776A>G | CA515263456 | SHANK3 | c.3544A>G (p.Asn1182Asp) n.4128A>G c.2596A>G (p.Asn866Asp) c.2086A>G (p.Asn696Asp) c.*2542A>G (n.*2542A>G) c.3940A>G (p.Asn1314Asp) c.3922A>G (p.Asn1308Asp) | |
22 | g.50721776A>T | CA515263457 | SHANK3 | c.3544A>T (p.Asn1182Tyr) n.4128A>T c.2596A>T (p.Asn866Tyr) c.2086A>T (p.Asn696Tyr) c.*2542A>T (n.*2542A>T) c.3940A>T (p.Asn1314Tyr) c.3922A>T (p.Asn1308Tyr) | |
22 | g.50721777A= | CA2411008445 | SHANK3 | c.3545A= (p.Asn1182=) n.4129A= c.2597A= (p.Asn866=) c.2087A= (p.Asn696=) c.*2543A= (n.*2543A=) c.3941A= (p.Asn1314=) c.3923A= (p.Asn1308=) | |
22 | g.50721777A>C | CA515263458 | SHANK3 | c.3545A>C (p.Asn1182Thr) n.4129A>C c.2597A>C (p.Asn866Thr) c.2087A>C (p.Asn696Thr) c.*2543A>C (n.*2543A>C) c.3941A>C (p.Asn1314Thr) c.3923A>C (p.Asn1308Thr) | ClinVar |
22 | g.50721777A>G | CA325579641 | SHANK3 | c.3545A>G (p.Asn1182Ser) n.4129A>G c.2597A>G (p.Asn866Ser) c.2087A>G (p.Asn696Ser) c.*2543A>G (n.*2543A>G) c.3941A>G (p.Asn1314Ser) c.3923A>G (p.Asn1308Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721777A>T | CA515263459 | SHANK3 | c.3545A>T (p.Asn1182Ile) n.4129A>T c.2597A>T (p.Asn866Ile) c.2087A>T (p.Asn696Ile) c.*2543A>T (n.*2543A>T) c.3941A>T (p.Asn1314Ile) c.3923A>T (p.Asn1308Ile) | |
22 | g.50721778C>A | CA515263460 | SHANK3 | c.3546C>A (p.Asn1182Lys) n.4130C>A c.2598C>A (p.Asn866Lys) c.2088C>A (p.Asn696Lys) c.*2544C>A (n.*2544C>A) c.3942C>A (p.Asn1314Lys) c.3924C>A (p.Asn1308Lys) | gnomAD v4 |
22 | g.50721778C= | CA2411008446 | SHANK3 | c.3546C= (p.Asn1182=) n.4130C= c.2598C= (p.Asn866=) c.2088C= (p.Asn696=) c.*2544C= (n.*2544C=) c.3942C= (p.Asn1314=) c.3924C= (p.Asn1308=) | |
22 | g.50721778C>G | CA515263461 | SHANK3 | c.3546C>G (p.Asn1182Lys) n.4130C>G c.2598C>G (p.Asn866Lys) c.2088C>G (p.Asn696Lys) c.*2544C>G (n.*2544C>G) c.3942C>G (p.Asn1314Lys) c.3924C>G (p.Asn1308Lys) | ClinVar dbSNP gnomAD v4 |
22 | g.50721778C>T | CA10326178 | SHANK3 | c.3546C>T (p.Asn1182=) n.4130C>T c.2598C>T (p.Asn866=) c.2088C>T (p.Asn696=) c.*2544C>T (n.*2544C>T) c.3942C>T (p.Asn1314=) c.3924C>T (p.Asn1308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.50721779G>A | CA515263462 | SHANK3 | c.3547G>A (p.Gly1183Arg) n.4131G>A c.2599G>A (p.Gly867Arg) c.2089G>A (p.Gly697Arg) c.*2545G>A (n.*2545G>A) c.3943G>A (p.Gly1315Arg) c.3925G>A (p.Gly1309Arg) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721779G>C | CA10326179 | SHANK3 | c.3547G>C (p.Gly1183Arg) n.4131G>C c.2599G>C (p.Gly867Arg) c.2089G>C (p.Gly697Arg) c.*2545G>C (n.*2545G>C) c.3943G>C (p.Gly1315Arg) c.3925G>C (p.Gly1309Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721779G= | CA2411008447 | SHANK3 | c.3547G= (p.Gly1183=) n.4131G= c.2599G= (p.Gly867=) c.2089G= (p.Gly697=) c.*2545G= (n.*2545G=) c.3943G= (p.Gly1315=) c.3925G= (p.Gly1309=) | |
22 | g.50721779G>T | CA515263463 | SHANK3 | c.3547G>T (p.Gly1183Trp) n.4131G>T c.2599G>T (p.Gly867Trp) c.2089G>T (p.Gly697Trp) c.*2545G>T (n.*2545G>T) c.3943G>T (p.Gly1315Trp) c.3925G>T (p.Gly1309Trp) | gnomAD v4 |
22 | g.50721780G>A | CA515263464 | SHANK3 | c.3548G>A (p.Gly1183Glu) n.4132G>A c.2600G>A (p.Gly867Glu) c.2090G>A (p.Gly697Glu) c.*2546G>A (n.*2546G>A) c.3944G>A (p.Gly1315Glu) c.3926G>A (p.Gly1309Glu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721780G>C | CA515263465 | SHANK3 | c.3548G>C (p.Gly1183Ala) n.4132G>C c.2600G>C (p.Gly867Ala) c.2090G>C (p.Gly697Ala) c.*2546G>C (n.*2546G>C) c.3944G>C (p.Gly1315Ala) c.3926G>C (p.Gly1309Ala) | |
22 | g.50721780G= | CA2411008448 | SHANK3 | c.3548G= (p.Gly1183=) n.4132G= c.2600G= (p.Gly867=) c.2090G= (p.Gly697=) c.*2546G= (n.*2546G=) c.3944G= (p.Gly1315=) c.3926G= (p.Gly1309=) | |
22 | g.50721780G>T | CA515263466 | SHANK3 | c.3548G>T (p.Gly1183Val) n.4132G>T c.2600G>T (p.Gly867Val) c.2090G>T (p.Gly697Val) c.*2546G>T (n.*2546G>T) c.3944G>T (p.Gly1315Val) c.3926G>T (p.Gly1309Val) | gnomAD v4 |
22 | g.50721781G>A | CA10326180 | SHANK3 | c.3549G>A (p.Gly1183=) n.4133G>A c.2601G>A (p.Gly867=) c.2091G>A (p.Gly697=) c.*2547G>A (n.*2547G>A) c.3945G>A (p.Gly1315=) c.3927G>A (p.Gly1309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721781G>C | CA515263469 | SHANK3 | c.3549G>C (p.Gly1183=) n.4133G>C c.2601G>C (p.Gly867=) c.2091G>C (p.Gly697=) c.*2547G>C (n.*2547G>C) c.3945G>C (p.Gly1315=) c.3927G>C (p.Gly1309=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721781G= | CA2411008449 | SHANK3 | c.3549G= (p.Gly1183=) n.4133G= c.2601G= (p.Gly867=) c.2091G= (p.Gly697=) c.*2547G= (n.*2547G=) c.3945G= (p.Gly1315=) c.3927G= (p.Gly1309=) | |
22 | g.50721781G>T | CA515263471 | SHANK3 | c.3549G>T (p.Gly1183=) n.4133G>T c.2601G>T (p.Gly867=) c.2091G>T (p.Gly697=) c.*2547G>T (n.*2547G>T) c.3945G>T (p.Gly1315=) c.3927G>T (p.Gly1309=) | gnomAD v4 |
22 | g.50721782G>A | CA515263473 | SHANK3 | c.3550G>A (p.Val1184Ile) n.4134G>A c.2602G>A (p.Val868Ile) c.2092G>A (p.Val698Ile) c.*2548G>A (n.*2548G>A) c.3946G>A (p.Val1316Ile) c.3928G>A (p.Val1310Ile) | dbSNP gnomAD v4 |
22 | g.50721782G>C | CA325579659 | SHANK3 | c.3550G>C (p.Val1184Leu) n.4134G>C c.2602G>C (p.Val868Leu) c.2092G>C (p.Val698Leu) c.*2548G>C (n.*2548G>C) c.3946G>C (p.Val1316Leu) c.3928G>C (p.Val1310Leu) | dbSNP |
22 | g.50721782G= | CA2411008450 | SHANK3 | c.3550G= (p.Val1184=) n.4134G= c.2602G= (p.Val868=) c.2092G= (p.Val698=) c.*2548G= (n.*2548G=) c.3946G= (p.Val1316=) c.3928G= (p.Val1310=) | |
22 | g.50721782G>T | CA515263472 | SHANK3 | c.3550G>T (p.Val1184Phe) n.4134G>T c.2602G>T (p.Val868Phe) c.2092G>T (p.Val698Phe) c.*2548G>T (n.*2548G>T) c.3946G>T (p.Val1316Phe) c.3928G>T (p.Val1310Phe) | gnomAD v4 |
22 | g.50721783T>A | CA515263474 | SHANK3 | c.3551T>A (p.Val1184Asp) n.4135T>A c.2603T>A (p.Val868Asp) c.2093T>A (p.Val698Asp) c.*2549T>A (n.*2549T>A) c.3947T>A (p.Val1316Asp) c.3929T>A (p.Val1310Asp) | gnomAD v4 |
22 | g.50721783T>C | CA515263475 | SHANK3 | c.3551T>C (p.Val1184Ala) n.4135T>C c.2603T>C (p.Val868Ala) c.2093T>C (p.Val698Ala) c.*2549T>C (n.*2549T>C) c.3947T>C (p.Val1316Ala) c.3929T>C (p.Val1310Ala) | |
22 | g.50721783T>G | CA515263477 | SHANK3 | c.3551T>G (p.Val1184Gly) n.4135T>G c.2603T>G (p.Val868Gly) c.2093T>G (p.Val698Gly) c.*2549T>G (n.*2549T>G) c.3947T>G (p.Val1316Gly) c.3929T>G (p.Val1310Gly) | dbSNP |
22 | g.50721783T= | CA2411008451 | SHANK3 | c.3551T= (p.Val1184=) n.4135T= c.2603T= (p.Val868=) c.2093T= (p.Val698=) c.*2549T= (n.*2549T=) c.3947T= (p.Val1316=) c.3929T= (p.Val1310=) | |
22 | g.50721784C>A | CA10326181 | SHANK3 | c.3552C>A (p.Val1184=) n.4136C>A c.2604C>A (p.Val868=) c.2094C>A (p.Val698=) c.*2550C>A (n.*2550C>A) c.3948C>A (p.Val1316=) c.3930C>A (p.Val1310=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721784C= | CA2411008452 | SHANK3 | c.3552C= (p.Val1184=) n.4136C= c.2604C= (p.Val868=) c.2094C= (p.Val698=) c.*2550C= (n.*2550C=) c.3948C= (p.Val1316=) c.3930C= (p.Val1310=) | |
22 | g.50721784C>G | CA515263480 | SHANK3 | c.3552C>G (p.Val1184=) n.4136C>G c.2604C>G (p.Val868=) c.2094C>G (p.Val698=) c.*2550C>G (n.*2550C>G) c.3948C>G (p.Val1316=) c.3930C>G (p.Val1310=) | |
22 | g.50721784C>T | CA515263481 | SHANK3 | c.3552C>T (p.Val1184=) n.4136C>T c.2604C>T (p.Val868=) c.2094C>T (p.Val698=) c.*2550C>T (n.*2550C>T) c.3948C>T (p.Val1316=) c.3930C>T (p.Val1310=) | gnomAD v4 |
22 | g.50721785C>A | CA515263482 | SHANK3 | c.3553C>A (p.Leu1185Met) n.4137C>A c.2605C>A (p.Leu869Met) c.2095C>A (p.Leu699Met) c.*2551C>A (n.*2551C>A) c.3949C>A (p.Leu1317Met) c.3931C>A (p.Leu1311Met) | COSMIC COSMIC |
22 | g.50721785C= | CA2411008453 | SHANK3 | c.3553C= (p.Leu1185=) n.4137C= c.2605C= (p.Leu869=) c.2095C= (p.Leu699=) c.*2551C= (n.*2551C=) c.3949C= (p.Leu1317=) c.3931C= (p.Leu1311=) | |
22 | g.50721785C>G | CA515263483 | SHANK3 | c.3553C>G (p.Leu1185Val) n.4137C>G c.2605C>G (p.Leu869Val) c.2095C>G (p.Leu699Val) c.*2551C>G (n.*2551C>G) c.3949C>G (p.Leu1317Val) c.3931C>G (p.Leu1311Val) | |
22 | g.50721785C>T | CA515263484 | SHANK3 | c.3553C>T (p.Leu1185=) n.4137C>T c.2605C>T (p.Leu869=) c.2095C>T (p.Leu699=) c.*2551C>T (n.*2551C>T) c.3949C>T (p.Leu1317=) c.3931C>T (p.Leu1311=) | dbSNP gnomAD v4 |
22 | g.50721788_50721790del | CA2657581331 | SHANK3 | c.3556_3558del (p.Leu1186del) n.4140_4142del c.2608_2610del (p.Leu870del) c.2098_2100del (p.Leu700del) c.*2554_*2556del (n.*2554_*2556del) c.3952_3954del (p.Leu1318del) c.3934_3936del (p.Leu1312del) | gnomAD v4 |
22 | g.50721786T>A | CA515263485 | SHANK3 | c.3554T>A (p.Leu1185Gln) n.4138T>A c.2606T>A (p.Leu869Gln) c.2096T>A (p.Leu699Gln) c.*2552T>A (n.*2552T>A) c.3950T>A (p.Leu1317Gln) c.3932T>A (p.Leu1311Gln) | |
22 | g.50721786T>C | CA515263486 | SHANK3 | c.3554T>C (p.Leu1185Pro) n.4138T>C c.2606T>C (p.Leu869Pro) c.2096T>C (p.Leu699Pro) c.*2552T>C (n.*2552T>C) c.3950T>C (p.Leu1317Pro) c.3932T>C (p.Leu1311Pro) | |
22 | g.50721786T>G | CA515263487 | SHANK3 | c.3554T>G (p.Leu1185Arg) n.4138T>G c.2606T>G (p.Leu869Arg) c.2096T>G (p.Leu699Arg) c.*2552T>G (n.*2552T>G) c.3950T>G (p.Leu1317Arg) c.3932T>G (p.Leu1311Arg) | |
22 | g.50721787G>A | CA515263490 | SHANK3 | c.3555G>A (p.Leu1185=) n.4139G>A c.2607G>A (p.Leu869=) c.2097G>A (p.Leu699=) c.*2553G>A (n.*2553G>A) c.3951G>A (p.Leu1317=) c.3933G>A (p.Leu1311=) | gnomAD v4 |
22 | g.50721787G>C | CA325579673 | SHANK3 | c.3555G>C (p.Leu1185=) n.4139G>C c.2607G>C (p.Leu869=) c.2097G>C (p.Leu699=) c.*2553G>C (n.*2553G>C) c.3951G>C (p.Leu1317=) c.3933G>C (p.Leu1311=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721787G= | CA2411008454 | SHANK3 | c.3555G= (p.Leu1185=) n.4139G= c.2607G= (p.Leu869=) c.2097G= (p.Leu699=) c.*2553G= (n.*2553G=) c.3951G= (p.Leu1317=) c.3933G= (p.Leu1311=) | |
22 | g.50721787G>T | CA515263489 | SHANK3 | c.3555G>T (p.Leu1185=) n.4139G>T c.2607G>T (p.Leu869=) c.2097G>T (p.Leu699=) c.*2553G>T (n.*2553G>T) c.3951G>T (p.Leu1317=) c.3933G>T (p.Leu1311=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721788C>A | CA515263491 | SHANK3 | c.3556C>A (p.Leu1186Met) n.4140C>A c.2608C>A (p.Leu870Met) c.2098C>A (p.Leu700Met) c.*2554C>A (n.*2554C>A) c.3952C>A (p.Leu1318Met) c.3934C>A (p.Leu1312Met) | gnomAD v4 |
22 | g.50721788C= | CA2411008455 | SHANK3 | c.3556C= (p.Leu1186=) n.4140C= c.2608C= (p.Leu870=) c.2098C= (p.Leu700=) c.*2554C= (n.*2554C=) c.3952C= (p.Leu1318=) c.3934C= (p.Leu1312=) | |
22 | g.50721788C>G | CA515263492 | SHANK3 | c.3556C>G (p.Leu1186Val) n.4140C>G c.2608C>G (p.Leu870Val) c.2098C>G (p.Leu700Val) c.*2554C>G (n.*2554C>G) c.3952C>G (p.Leu1318Val) c.3934C>G (p.Leu1312Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721788C>T | CA10326182 | SHANK3 | c.3556C>T (p.Leu1186=) n.4140C>T c.2608C>T (p.Leu870=) c.2098C>T (p.Leu700=) c.*2554C>T (n.*2554C>T) c.3952C>T (p.Leu1318=) c.3934C>T (p.Leu1312=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721789T>A | CA515263493 | SHANK3 | c.3557T>A (p.Leu1186Gln) n.4141T>A c.2609T>A (p.Leu870Gln) c.2099T>A (p.Leu700Gln) c.*2555T>A (n.*2555T>A) c.3953T>A (p.Leu1318Gln) c.3935T>A (p.Leu1312Gln) | |
22 | g.50721789T>C | CA515263494 | SHANK3 | c.3557T>C (p.Leu1186Pro) n.4141T>C c.2609T>C (p.Leu870Pro) c.2099T>C (p.Leu700Pro) c.*2555T>C (n.*2555T>C) c.3953T>C (p.Leu1318Pro) c.3935T>C (p.Leu1312Pro) | |
22 | g.50721789T>G | CA515263495 | SHANK3 | c.3557T>G (p.Leu1186Arg) n.4141T>G c.2609T>G (p.Leu870Arg) c.2099T>G (p.Leu700Arg) c.*2555T>G (n.*2555T>G) c.3953T>G (p.Leu1318Arg) c.3935T>G (p.Leu1312Arg) | ClinVar |
22 | g.50721790G>A | CA515263496 | SHANK3 | c.3558G>A (p.Leu1186=) n.4142G>A c.2610G>A (p.Leu870=) c.2100G>A (p.Leu700=) c.*2556G>A (n.*2556G>A) c.3954G>A (p.Leu1318=) c.3936G>A (p.Leu1312=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721790G>C | CA515263497 | SHANK3 | c.3558G>C (p.Leu1186=) n.4142G>C c.2610G>C (p.Leu870=) c.2100G>C (p.Leu700=) c.*2556G>C (n.*2556G>C) c.3954G>C (p.Leu1318=) c.3936G>C (p.Leu1312=) | |
22 | g.50721790G= | CA2411008456 | SHANK3 | c.3558G= (p.Leu1186=) n.4142G= c.2610G= (p.Leu870=) c.2100G= (p.Leu700=) c.*2556G= (n.*2556G=) c.3954G= (p.Leu1318=) c.3936G= (p.Leu1312=) | |
22 | g.50721790G>T | CA515263498 | SHANK3 | c.3558G>T (p.Leu1186=) n.4142G>T c.2610G>T (p.Leu870=) c.2100G>T (p.Leu700=) c.*2556G>T (n.*2556G>T) c.3954G>T (p.Leu1318=) c.3936G>T (p.Leu1312=) | |
22 | g.50721791G>A | CA515263499 | SHANK3 | c.3559G>A (p.Ala1187Thr) n.4143G>A c.2611G>A (p.Ala871Thr) c.2101G>A (p.Ala701Thr) c.*2557G>A (n.*2557G>A) c.3955G>A (p.Ala1319Thr) c.3937G>A (p.Ala1313Thr) | dbSNP |
22 | g.50721791G>C | CA10326183 | SHANK3 | c.3559G>C (p.Ala1187Pro) n.4143G>C c.2611G>C (p.Ala871Pro) c.2101G>C (p.Ala701Pro) c.*2557G>C (n.*2557G>C) c.3955G>C (p.Ala1319Pro) c.3937G>C (p.Ala1313Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721791G= | CA2411008457 | SHANK3 | c.3559G= (p.Ala1187=) n.4143G= c.2611G= (p.Ala871=) c.2101G= (p.Ala701=) c.*2557G= (n.*2557G=) c.3955G= (p.Ala1319=) c.3937G= (p.Ala1313=) | |
22 | g.50721791G>T | CA325579676 | SHANK3 | c.3559G>T (p.Ala1187Ser) n.4143G>T c.2611G>T (p.Ala871Ser) c.2101G>T (p.Ala701Ser) c.*2557G>T (n.*2557G>T) c.3955G>T (p.Ala1319Ser) c.3937G>T (p.Ala1313Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721792C>A | CA515263504 | SHANK3 | c.3560C>A (p.Ala1187Asp) n.4144C>A c.2612C>A (p.Ala871Asp) c.2102C>A (p.Ala701Asp) c.*2558C>A (n.*2558C>A) c.3956C>A (p.Ala1319Asp) c.3938C>A (p.Ala1313Asp) | gnomAD v4 |
22 | g.50721792C= | CA2411008458 | SHANK3 | c.3560C= (p.Ala1187=) n.4144C= c.2612C= (p.Ala871=) c.2102C= (p.Ala701=) c.*2558C= (n.*2558C=) c.3956C= (p.Ala1319=) c.3938C= (p.Ala1313=) | |
22 | g.50721792C>G | CA515263503 | SHANK3 | c.3560C>G (p.Ala1187Gly) n.4144C>G c.2612C>G (p.Ala871Gly) c.2102C>G (p.Ala701Gly) c.*2558C>G (n.*2558C>G) c.3956C>G (p.Ala1319Gly) c.3938C>G (p.Ala1313Gly) | |
22 | g.50721792C>T | CA515263502 | SHANK3 | c.3560C>T (p.Ala1187Val) n.4144C>T c.2612C>T (p.Ala871Val) c.2102C>T (p.Ala701Val) c.*2558C>T (n.*2558C>T) c.3956C>T (p.Ala1319Val) c.3938C>T (p.Ala1313Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721793C>A | CA515263505 | SHANK3 | c.3561C>A (p.Ala1187=) n.4145C>A c.2613C>A (p.Ala871=) c.2103C>A (p.Ala701=) c.*2559C>A (n.*2559C>A) c.3957C>A (p.Ala1319=) c.3939C>A (p.Ala1313=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721793C= | CA2411008459 | SHANK3 | c.3561C= (p.Ala1187=) n.4145C= c.2613C= (p.Ala871=) c.2103C= (p.Ala701=) c.*2559C= (n.*2559C=) c.3957C= (p.Ala1319=) c.3939C= (p.Ala1313=) | |
22 | g.50721793C>G | CA515263506 | SHANK3 | c.3561C>G (p.Ala1187=) n.4145C>G c.2613C>G (p.Ala871=) c.2103C>G (p.Ala701=) c.*2559C>G (n.*2559C>G) c.3957C>G (p.Ala1319=) c.3939C>G (p.Ala1313=) | |
22 | g.50721793C>T | CA515263507 | SHANK3 | c.3561C>T (p.Ala1187=) n.4145C>T c.2613C>T (p.Ala871=) c.2103C>T (p.Ala701=) c.*2559C>T (n.*2559C>T) c.3957C>T (p.Ala1319=) c.3939C>T (p.Ala1313=) | gnomAD v4 |
22 | g.50721794A= | CA2411008460 | SHANK3 | c.3562A= (p.Thr1188=) n.4146A= c.2614A= (p.Thr872=) c.2104A= (p.Thr702=) c.*2560A= (n.*2560A=) c.3958A= (p.Thr1320=) c.3940A= (p.Thr1314=) | |
22 | g.50721794A>C | CA515263508 | SHANK3 | c.3562A>C (p.Thr1188Pro) n.4146A>C c.2614A>C (p.Thr872Pro) c.2104A>C (p.Thr702Pro) c.*2560A>C (n.*2560A>C) c.3958A>C (p.Thr1320Pro) c.3940A>C (p.Thr1314Pro) | |
22 | g.50721794A>G | CA515263509 | SHANK3 | c.3562A>G (p.Thr1188Ala) n.4146A>G c.2614A>G (p.Thr872Ala) c.2104A>G (p.Thr702Ala) c.*2560A>G (n.*2560A>G) c.3958A>G (p.Thr1320Ala) c.3940A>G (p.Thr1314Ala) | |
22 | g.50721794A>T | CA515263510 | SHANK3 | c.3562A>T (p.Thr1188Ser) n.4146A>T c.2614A>T (p.Thr872Ser) c.2104A>T (p.Thr702Ser) c.*2560A>T (n.*2560A>T) c.3958A>T (p.Thr1320Ser) c.3940A>T (p.Thr1314Ser) | dbSNP gnomAD v2 |
22 | g.50721795C>A | CA515263516 | SHANK3 | c.3563C>A (p.Thr1188Asn) n.4147C>A c.2615C>A (p.Thr872Asn) c.2105C>A (p.Thr702Asn) c.*2561C>A (n.*2561C>A) c.3959C>A (p.Thr1320Asn) c.3941C>A (p.Thr1314Asn) | |
22 | g.50721795C= | CA2411008461 | SHANK3 | c.3563C= (p.Thr1188=) n.4147C= c.2615C= (p.Thr872=) c.2105C= (p.Thr702=) c.*2561C= (n.*2561C=) c.3959C= (p.Thr1320=) c.3941C= (p.Thr1314=) | |
22 | g.50721795C>G | CA515263514 | SHANK3 | c.3563C>G (p.Thr1188Ser) n.4147C>G c.2615C>G (p.Thr872Ser) c.2105C>G (p.Thr702Ser) c.*2561C>G (n.*2561C>G) c.3959C>G (p.Thr1320Ser) c.3941C>G (p.Thr1314Ser) | |
22 | g.50721795C>T | CA515263512 | SHANK3 | c.3563C>T (p.Thr1188Ile) n.4147C>T c.2615C>T (p.Thr872Ile) c.2105C>T (p.Thr702Ile) c.*2561C>T (n.*2561C>T) c.3959C>T (p.Thr1320Ile) c.3941C>T (p.Thr1314Ile) | dbSNP gnomAD v4 |
22 | g.50721798del | CA2657581347 | SHANK3 | c.3566del (p.Pro1189HisfsTer?) n.4150del c.2618del (p.Pro873HisfsTer?) c.2108del (p.Pro703HisfsTer?) c.*2564del (n.*2564del) c.3962del (p.Pro1321HisfsTer?) c.3944del (p.Pro1315HisfsTer?) | gnomAD v4 |
22 | g.50721796C>A | CA515263517 | SHANK3 | c.3564C>A (p.Thr1188=) n.4148C>A c.2616C>A (p.Thr872=) c.2106C>A (p.Thr702=) c.*2562C>A (n.*2562C>A) c.3960C>A (p.Thr1320=) c.3942C>A (p.Thr1314=) | |
22 | g.50721796C= | CA2411008462 | SHANK3 | c.3564C= (p.Thr1188=) n.4148C= c.2616C= (p.Thr872=) c.2106C= (p.Thr702=) c.*2562C= (n.*2562C=) c.3960C= (p.Thr1320=) c.3942C= (p.Thr1314=) | |
22 | g.50721796C>G | CA515263518 | SHANK3 | c.3564C>G (p.Thr1188=) n.4148C>G c.2616C>G (p.Thr872=) c.2106C>G (p.Thr702=) c.*2562C>G (n.*2562C>G) c.3960C>G (p.Thr1320=) c.3942C>G (p.Thr1314=) | |
22 | g.50721796C>T | CA515263519 | SHANK3 | c.3564C>T (p.Thr1188=) n.4148C>T c.2616C>T (p.Thr872=) c.2106C>T (p.Thr702=) c.*2562C>T (n.*2562C>T) c.3960C>T (p.Thr1320=) c.3942C>T (p.Thr1314=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721797C>A | CA515263520 | SHANK3 | c.3565C>A (p.Pro1189Thr) n.4149C>A c.2617C>A (p.Pro873Thr) c.2107C>A (p.Pro703Thr) c.*2563C>A (n.*2563C>A) c.3961C>A (p.Pro1321Thr) c.3943C>A (p.Pro1315Thr) | gnomAD v4 |
22 | g.50721797C= | CA2411008463 | SHANK3 | c.3565C= (p.Pro1189=) n.4149C= c.2617C= (p.Pro873=) c.2107C= (p.Pro703=) c.*2563C= (n.*2563C=) c.3961C= (p.Pro1321=) c.3943C= (p.Pro1315=) | |
22 | g.50721797C>G | CA515263521 | SHANK3 | c.3565C>G (p.Pro1189Ala) n.4149C>G c.2617C>G (p.Pro873Ala) c.2107C>G (p.Pro703Ala) c.*2563C>G (n.*2563C>G) c.3961C>G (p.Pro1321Ala) c.3943C>G (p.Pro1315Ala) | |
22 | g.50721797C>T | CA515263522 | SHANK3 | c.3565C>T (p.Pro1189Ser) n.4149C>T c.2617C>T (p.Pro873Ser) c.2107C>T (p.Pro703Ser) c.*2563C>T (n.*2563C>T) c.3961C>T (p.Pro1321Ser) c.3943C>T (p.Pro1315Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721798C>A | CA515263523 | SHANK3 | c.3566C>A (p.Pro1189Gln) n.4150C>A c.2618C>A (p.Pro873Gln) c.2108C>A (p.Pro703Gln) c.*2564C>A (n.*2564C>A) c.3962C>A (p.Pro1321Gln) c.3944C>A (p.Pro1315Gln) | |
22 | g.50721798C= | CA2411008464 | SHANK3 | c.3566C= (p.Pro1189=) n.4150C= c.2618C= (p.Pro873=) c.2108C= (p.Pro703=) c.*2564C= (n.*2564C=) c.3962C= (p.Pro1321=) c.3944C= (p.Pro1315=) | |
22 | g.50721798C>G | CA515263526 | SHANK3 | c.3566C>G (p.Pro1189Arg) n.4150C>G c.2618C>G (p.Pro873Arg) c.2108C>G (p.Pro703Arg) c.*2564C>G (n.*2564C>G) c.3962C>G (p.Pro1321Arg) c.3944C>G (p.Pro1315Arg) | |
22 | g.50721798C>T | CA515263524 | SHANK3 | c.3566C>T (p.Pro1189Leu) n.4150C>T c.2618C>T (p.Pro873Leu) c.2108C>T (p.Pro703Leu) c.*2564C>T (n.*2564C>T) c.3962C>T (p.Pro1321Leu) c.3944C>T (p.Pro1315Leu) | dbSNP gnomAD v4 |
22 | g.50721799A= | CA2411008465 | SHANK3 | c.3567A= (p.Pro1189=) n.4151A= c.2619A= (p.Pro873=) c.2109A= (p.Pro703=) c.*2565A= (n.*2565A=) c.3963A= (p.Pro1321=) c.3945A= (p.Pro1315=) | |
22 | g.50721799A>C | CA515263528 | SHANK3 | c.3567A>C (p.Pro1189=) n.4151A>C c.2619A>C (p.Pro873=) c.2109A>C (p.Pro703=) c.*2565A>C (n.*2565A>C) c.3963A>C (p.Pro1321=) c.3945A>C (p.Pro1315=) | |
22 | g.50721799A>G | CA515263530 | SHANK3 | c.3567A>G (p.Pro1189=) n.4151A>G c.2619A>G (p.Pro873=) c.2109A>G (p.Pro703=) c.*2565A>G (n.*2565A>G) c.3963A>G (p.Pro1321=) c.3945A>G (p.Pro1315=) | |
22 | g.50721799A>T | CA515263531 | SHANK3 | c.3567A>T (p.Pro1189=) n.4151A>T c.2619A>T (p.Pro873=) c.2109A>T (p.Pro703=) c.*2565A>T (n.*2565A>T) c.3963A>T (p.Pro1321=) c.3945A>T (p.Pro1315=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721800C>A | CA515263532 | SHANK3 | c.3568C>A (p.Leu1190Ile) n.4152C>A c.2620C>A (p.Leu874Ile) c.2110C>A (p.Leu704Ile) c.*2566C>A (n.*2566C>A) c.3964C>A (p.Leu1322Ile) c.3946C>A (p.Leu1316Ile) | |
22 | g.50721800C>G | CA515263533 | SHANK3 | c.3568C>G (p.Leu1190Val) n.4152C>G c.2620C>G (p.Leu874Val) c.2110C>G (p.Leu704Val) c.*2566C>G (n.*2566C>G) c.3964C>G (p.Leu1322Val) c.3946C>G (p.Leu1316Val) | |
22 | g.50721800C>T | CA515263534 | SHANK3 | c.3568C>T (p.Leu1190Phe) n.4152C>T c.2620C>T (p.Leu874Phe) c.2110C>T (p.Leu704Phe) c.*2566C>T (n.*2566C>T) c.3964C>T (p.Leu1322Phe) c.3946C>T (p.Leu1316Phe) | |
22 | g.50721800_50721801delinsCT | CA2411008466 | SHANK3 | c.3568_3569delinsCT (p.Leu1190=) n.4152_4153delinsCT c.2620_2621delinsCT (p.Leu874=) c.2110_2111delinsCT (p.Leu704=) c.*2566_*2567delinsCT (n.*2566_*2567delinsCT) c.3964_3965delinsCT (p.Leu1322=) c.3946_3947delinsCT (p.Leu1316=) | |
22 | g.50721801del | CA1139667209 | SHANK3 | c.3569del (p.Leu1190ProfsTer?) n.4153del c.2621del (p.Leu874ProfsTer?) c.2111del (p.Leu704ProfsTer?) c.*2567del (n.*2567del) c.3965del (p.Leu1322ProfsTer?) c.3947del (p.Leu1316ProfsTer?) | ClinVar dbSNP |
22 | g.50721801T>A | CA515263535 | SHANK3 | c.3569T>A (p.Leu1190His) n.4153T>A c.2621T>A (p.Leu874His) c.2111T>A (p.Leu704His) c.*2567T>A (n.*2567T>A) c.3965T>A (p.Leu1322His) c.3947T>A (p.Leu1316His) | |
22 | g.50721801T>C | CA515263536 | SHANK3 | c.3569T>C (p.Leu1190Pro) n.4153T>C c.2621T>C (p.Leu874Pro) c.2111T>C (p.Leu704Pro) c.*2567T>C (n.*2567T>C) c.3965T>C (p.Leu1322Pro) c.3947T>C (p.Leu1316Pro) | |
22 | g.50721801T>G | CA515263537 | SHANK3 | c.3569T>G (p.Leu1190Arg) n.4153T>G c.2621T>G (p.Leu874Arg) c.2111T>G (p.Leu704Arg) c.*2567T>G (n.*2567T>G) c.3965T>G (p.Leu1322Arg) c.3947T>G (p.Leu1316Arg) | |
22 | g.50721802C>A | CA10326184 | SHANK3 | c.3570C>A (p.Leu1190=) n.4154C>A c.2622C>A (p.Leu874=) c.2112C>A (p.Leu704=) c.*2568C>A (n.*2568C>A) c.3966C>A (p.Leu1322=) c.3948C>A (p.Leu1316=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721802C= | CA2411008467 | SHANK3 | c.3570C= (p.Leu1190=) n.4154C= c.2622C= (p.Leu874=) c.2112C= (p.Leu704=) c.*2568C= (n.*2568C=) c.3966C= (p.Leu1322=) c.3948C= (p.Leu1316=) | |
22 | g.50721802C>G | CA515263538 | SHANK3 | c.3570C>G (p.Leu1190=) n.4154C>G c.2622C>G (p.Leu874=) c.2112C>G (p.Leu704=) c.*2568C>G (n.*2568C>G) c.3966C>G (p.Leu1322=) c.3948C>G (p.Leu1316=) | |
22 | g.50721802C>T | CA515263540 | SHANK3 | c.3570C>T (p.Leu1190=) n.4154C>T c.2622C>T (p.Leu874=) c.2112C>T (p.Leu704=) c.*2568C>T (n.*2568C>T) c.3966C>T (p.Leu1322=) c.3948C>T (p.Leu1316=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721803G>A | CA10326185 | SHANK3 | c.3571G>A (p.Ala1191Thr) n.4155G>A c.2623G>A (p.Ala875Thr) c.2113G>A (p.Ala705Thr) c.*2569G>A (n.*2569G>A) c.3967G>A (p.Ala1323Thr) c.3949G>A (p.Ala1317Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721803G>C | CA515263544 | SHANK3 | c.3571G>C (p.Ala1191Pro) n.4155G>C c.2623G>C (p.Ala875Pro) c.2113G>C (p.Ala705Pro) c.*2569G>C (n.*2569G>C) c.3967G>C (p.Ala1323Pro) c.3949G>C (p.Ala1317Pro) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721803G= | CA2411008468 | SHANK3 | c.3571G= (p.Ala1191=) n.4155G= c.2623G= (p.Ala875=) c.2113G= (p.Ala705=) c.*2569G= (n.*2569G=) c.3967G= (p.Ala1323=) c.3949G= (p.Ala1317=) | |
22 | g.50721803G>T | CA515263543 | SHANK3 | c.3571G>T (p.Ala1191Ser) n.4155G>T c.2623G>T (p.Ala875Ser) c.2113G>T (p.Ala705Ser) c.*2569G>T (n.*2569G>T) c.3967G>T (p.Ala1323Ser) c.3949G>T (p.Ala1317Ser) | gnomAD v4 |
22 | g.50721804C>A | CA515263545 | SHANK3 | c.3572C>A (p.Ala1191Asp) n.4156C>A c.2624C>A (p.Ala875Asp) c.2114C>A (p.Ala705Asp) c.*2570C>A (n.*2570C>A) c.3968C>A (p.Ala1323Asp) c.3950C>A (p.Ala1317Asp) | |
22 | g.50721804C>G | CA515263546 | SHANK3 | c.3572C>G (p.Ala1191Gly) n.4156C>G c.2624C>G (p.Ala875Gly) c.2114C>G (p.Ala705Gly) c.*2570C>G (n.*2570C>G) c.3968C>G (p.Ala1323Gly) c.3950C>G (p.Ala1317Gly) | |
22 | g.50721804C>T | CA515263547 | SHANK3 | c.3572C>T (p.Ala1191Val) n.4156C>T c.2624C>T (p.Ala875Val) c.2114C>T (p.Ala705Val) c.*2570C>T (n.*2570C>T) c.3968C>T (p.Ala1323Val) c.3950C>T (p.Ala1317Val) | |
22 | g.50721805T>A | CA515263548 | SHANK3 | c.3573T>A (p.Ala1191=) n.4157T>A c.2625T>A (p.Ala875=) c.2115T>A (p.Ala705=) c.*2571T>A (n.*2571T>A) c.3969T>A (p.Ala1323=) c.3951T>A (p.Ala1317=) | |
22 | g.50721805T>C | CA515263549 | SHANK3 | c.3573T>C (p.Ala1191=) n.4157T>C c.2625T>C (p.Ala875=) c.2115T>C (p.Ala705=) c.*2571T>C (n.*2571T>C) c.3969T>C (p.Ala1323=) c.3951T>C (p.Ala1317=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721805T>G | CA515263550 | SHANK3 | c.3573T>G (p.Ala1191=) n.4157T>G c.2625T>G (p.Ala875=) c.2115T>G (p.Ala705=) c.*2571T>G (n.*2571T>G) c.3969T>G (p.Ala1323=) c.3951T>G (p.Ala1317=) | gnomAD v4 |
22 | g.50721805T= | CA2411008469 | SHANK3 | c.3573T= (p.Ala1191=) n.4157T= c.2625T= (p.Ala875=) c.2115T= (p.Ala705=) c.*2571T= (n.*2571T=) c.3969T= (p.Ala1323=) c.3951T= (p.Ala1317=) | |
22 | g.50721806G>A | CA515263551 | SHANK3 | c.3574G>A (p.Gly1192Ser) n.4158G>A c.2626G>A (p.Gly876Ser) c.2116G>A (p.Gly706Ser) c.*2572G>A (n.*2572G>A) c.3970G>A (p.Gly1324Ser) c.3952G>A (p.Gly1318Ser) | ClinVar |
22 | g.50721806G>C | CA515263552 | SHANK3 | c.3574G>C (p.Gly1192Arg) n.4158G>C c.2626G>C (p.Gly876Arg) c.2116G>C (p.Gly706Arg) c.*2572G>C (n.*2572G>C) c.3970G>C (p.Gly1324Arg) c.3952G>C (p.Gly1318Arg) | |
22 | g.50721806G= | CA2411008470 | SHANK3 | c.3574G= (p.Gly1192=) n.4158G= c.2626G= (p.Gly876=) c.2116G= (p.Gly706=) c.*2572G= (n.*2572G=) c.3970G= (p.Gly1324=) c.3952G= (p.Gly1318=) | |
22 | g.50721806G>T | CA515263554 | SHANK3 | c.3574G>T (p.Gly1192Cys) n.4158G>T c.2626G>T (p.Gly876Cys) c.2116G>T (p.Gly706Cys) c.*2572G>T (n.*2572G>T) c.3970G>T (p.Gly1324Cys) c.3952G>T (p.Gly1318Cys) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721807G>A | CA515263556 | SHANK3 | c.3575G>A (p.Gly1192Asp) n.4159G>A c.2627G>A (p.Gly876Asp) c.2117G>A (p.Gly706Asp) c.*2573G>A (n.*2573G>A) c.3971G>A (p.Gly1324Asp) c.3953G>A (p.Gly1318Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721807G>C | CA515263557 | SHANK3 | c.3575G>C (p.Gly1192Ala) n.4159G>C c.2627G>C (p.Gly876Ala) c.2117G>C (p.Gly706Ala) c.*2573G>C (n.*2573G>C) c.3971G>C (p.Gly1324Ala) c.3953G>C (p.Gly1318Ala) | |
22 | g.50721807G= | CA2411008471 | SHANK3 | c.3575G= (p.Gly1192=) n.4159G= c.2627G= (p.Gly876=) c.2117G= (p.Gly706=) c.*2573G= (n.*2573G=) c.3971G= (p.Gly1324=) c.3953G= (p.Gly1318=) | |
22 | g.50721807G>T | CA515263558 | SHANK3 | c.3575G>T (p.Gly1192Val) n.4159G>T c.2627G>T (p.Gly876Val) c.2117G>T (p.Gly706Val) c.*2573G>T (n.*2573G>T) c.3971G>T (p.Gly1324Val) c.3953G>T (p.Gly1318Val) | gnomAD v4 |
22 | g.50721808C>A | CA515263561 | SHANK3 | c.3576C>A (p.Gly1192=) n.4160C>A c.2628C>A (p.Gly876=) c.2118C>A (p.Gly706=) c.*2574C>A (n.*2574C>A) c.3972C>A (p.Gly1324=) c.3954C>A (p.Gly1318=) | |
22 | g.50721808C= | CA2411008472 | SHANK3 | c.3576C= (p.Gly1192=) n.4160C= c.2628C= (p.Gly876=) c.2118C= (p.Gly706=) c.*2574C= (n.*2574C=) c.3972C= (p.Gly1324=) c.3954C= (p.Gly1318=) | |
22 | g.50721808C>G | CA515263559 | SHANK3 | c.3576C>G (p.Gly1192=) n.4160C>G c.2628C>G (p.Gly876=) c.2118C>G (p.Gly706=) c.*2574C>G (n.*2574C>G) c.3972C>G (p.Gly1324=) c.3954C>G (p.Gly1318=) | |
22 | g.50721808C>T | CA515263560 | SHANK3 | c.3576C>T (p.Gly1192=) n.4160C>T c.2628C>T (p.Gly876=) c.2118C>T (p.Gly706=) c.*2574C>T (n.*2574C>T) c.3972C>T (p.Gly1324=) c.3954C>T (p.Gly1318=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721809C>A | CA515263562 | SHANK3 | c.3577C>A (p.Pro1193Thr) n.4161C>A c.2629C>A (p.Pro877Thr) c.2119C>A (p.Pro707Thr) c.*2575C>A (n.*2575C>A) c.3973C>A (p.Pro1325Thr) c.3955C>A (p.Pro1319Thr) | gnomAD v4 |
22 | g.50721809C= | CA2411008473 | SHANK3 | c.3577C= (p.Pro1193=) n.4161C= c.2629C= (p.Pro877=) c.2119C= (p.Pro707=) c.*2575C= (n.*2575C=) c.3973C= (p.Pro1325=) c.3955C= (p.Pro1319=) | |
22 | g.50721809C>G | CA515263563 | SHANK3 | c.3577C>G (p.Pro1193Ala) n.4161C>G c.2629C>G (p.Pro877Ala) c.2119C>G (p.Pro707Ala) c.*2575C>G (n.*2575C>G) c.3973C>G (p.Pro1325Ala) c.3955C>G (p.Pro1319Ala) | |
22 | g.50721809C>T | CA10326186 | SHANK3 | c.3577C>T (p.Pro1193Ser) n.4161C>T c.2629C>T (p.Pro877Ser) c.2119C>T (p.Pro707Ser) c.*2575C>T (n.*2575C>T) c.3973C>T (p.Pro1325Ser) c.3955C>T (p.Pro1319Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721810C>A | CA515263566 | SHANK3 | c.3578C>A (p.Pro1193Gln) n.4162C>A c.2630C>A (p.Pro877Gln) c.2120C>A (p.Pro707Gln) c.*2576C>A (n.*2576C>A) c.3974C>A (p.Pro1325Gln) c.3956C>A (p.Pro1319Gln) | |
22 | g.50721810C= | CA2411008474 | SHANK3 | c.3578C= (p.Pro1193=) n.4162C= c.2630C= (p.Pro877=) c.2120C= (p.Pro707=) c.*2576C= (n.*2576C=) c.3974C= (p.Pro1325=) c.3956C= (p.Pro1319=) | |
22 | g.50721810C>G | CA515263568 | SHANK3 | c.3578C>G (p.Pro1193Arg) n.4162C>G c.2630C>G (p.Pro877Arg) c.2120C>G (p.Pro707Arg) c.*2576C>G (n.*2576C>G) c.3974C>G (p.Pro1325Arg) c.3956C>G (p.Pro1319Arg) | gnomAD v4 |
22 | g.50721810C>T | CA10326187 | SHANK3 | c.3578C>T (p.Pro1193Leu) n.4162C>T c.2630C>T (p.Pro877Leu) c.2120C>T (p.Pro707Leu) c.*2576C>T (n.*2576C>T) c.3974C>T (p.Pro1325Leu) c.3956C>T (p.Pro1319Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721811G>A | CA325579693 | SHANK3 | c.3579G>A (p.Pro1193=) n.4163G>A c.2631G>A (p.Pro877=) c.2121G>A (p.Pro707=) c.*2577G>A (n.*2577G>A) c.3975G>A (p.Pro1325=) c.3957G>A (p.Pro1319=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721811G>C | CA515263569 | SHANK3 | c.3579G>C (p.Pro1193=) n.4163G>C c.2631G>C (p.Pro877=) c.2121G>C (p.Pro707=) c.*2577G>C (n.*2577G>C) c.3975G>C (p.Pro1325=) c.3957G>C (p.Pro1319=) | |
22 | g.50721811G= | CA2411008475 | SHANK3 | c.3579G= (p.Pro1193=) n.4163G= c.2631G= (p.Pro877=) c.2121G= (p.Pro707=) c.*2577G= (n.*2577G=) c.3975G= (p.Pro1325=) c.3957G= (p.Pro1319=) | |
22 | g.50721811G>T | CA515263570 | SHANK3 | c.3579G>T (p.Pro1193=) n.4163G>T c.2631G>T (p.Pro877=) c.2121G>T (p.Pro707=) c.*2577G>T (n.*2577G>T) c.3975G>T (p.Pro1325=) c.3957G>T (p.Pro1319=) | gnomAD v4 |
22 | g.50721812G>A | CA515263572 | SHANK3 | c.3580G>A (p.Gly1194Ser) n.4164G>A c.2632G>A (p.Gly878Ser) c.2122G>A (p.Gly708Ser) c.*2578G>A (n.*2578G>A) c.3976G>A (p.Gly1326Ser) c.3958G>A (p.Gly1320Ser) | |
22 | g.50721812G>C | CA515263573 | SHANK3 | c.3580G>C (p.Gly1194Arg) n.4164G>C c.2632G>C (p.Gly878Arg) c.2122G>C (p.Gly708Arg) c.*2578G>C (n.*2578G>C) c.3976G>C (p.Gly1326Arg) c.3958G>C (p.Gly1320Arg) | |
22 | g.50721812G>T | CA515263574 | SHANK3 | c.3580G>T (p.Gly1194Cys) n.4164G>T c.2632G>T (p.Gly878Cys) c.2122G>T (p.Gly708Cys) c.*2578G>T (n.*2578G>T) c.3976G>T (p.Gly1326Cys) c.3958G>T (p.Gly1320Cys) | gnomAD v4 |
22 | g.50721813G>A | CA515263578 | SHANK3 | c.3581G>A (p.Gly1194Asp) n.4165G>A c.2633G>A (p.Gly878Asp) c.2123G>A (p.Gly708Asp) c.*2579G>A (n.*2579G>A) c.3977G>A (p.Gly1326Asp) c.3959G>A (p.Gly1320Asp) | |
22 | g.50721813G>C | CA515263577 | SHANK3 | c.3581G>C (p.Gly1194Ala) n.4165G>C c.2633G>C (p.Gly878Ala) c.2123G>C (p.Gly708Ala) c.*2579G>C (n.*2579G>C) c.3977G>C (p.Gly1326Ala) c.3959G>C (p.Gly1320Ala) | |
22 | g.50721813G>T | CA515263575 | SHANK3 | c.3581G>T (p.Gly1194Val) n.4165G>T c.2633G>T (p.Gly878Val) c.2123G>T (p.Gly708Val) c.*2579G>T (n.*2579G>T) c.3977G>T (p.Gly1326Val) c.3959G>T (p.Gly1320Val) | gnomAD v4 |
22 | g.50721814C>A | CA515263580 | SHANK3 | c.3582C>A (p.Gly1194=) n.4166C>A c.2634C>A (p.Gly878=) c.2124C>A (p.Gly708=) c.*2580C>A (n.*2580C>A) c.3978C>A (p.Gly1326=) c.3960C>A (p.Gly1320=) | |
22 | g.50721814C= | CA2411008476 | SHANK3 | c.3582C= (p.Gly1194=) n.4166C= c.2634C= (p.Gly878=) c.2124C= (p.Gly708=) c.*2580C= (n.*2580C=) c.3978C= (p.Gly1326=) c.3960C= (p.Gly1320=) | |
22 | g.50721814C>G | CA515263579 | SHANK3 | c.3582C>G (p.Gly1194=) n.4166C>G c.2634C>G (p.Gly878=) c.2124C>G (p.Gly708=) c.*2580C>G (n.*2580C>G) c.3978C>G (p.Gly1326=) c.3960C>G (p.Gly1320=) | |
22 | g.50721814C>T | CA10326188 | SHANK3 | c.3582C>T (p.Gly1194=) n.4166C>T c.2634C>T (p.Gly878=) c.2124C>T (p.Gly708=) c.*2580C>T (n.*2580C>T) c.3978C>T (p.Gly1326=) c.3960C>T (p.Gly1320=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50721815C>A | CA515263581 | SHANK3 | c.3583C>A (p.Pro1195Thr) n.4167C>A c.2635C>A (p.Pro879Thr) c.2125C>A (p.Pro709Thr) c.*2581C>A (n.*2581C>A) c.3979C>A (p.Pro1327Thr) c.3961C>A (p.Pro1321Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721815C= | CA2411008477 | SHANK3 | c.3583C= (p.Pro1195=) n.4167C= c.2635C= (p.Pro879=) c.2125C= (p.Pro709=) c.*2581C= (n.*2581C=) c.3979C= (p.Pro1327=) c.3961C= (p.Pro1321=) | |
22 | g.50721815C>G | CA515263582 | SHANK3 | c.3583C>G (p.Pro1195Ala) n.4167C>G c.2635C>G (p.Pro879Ala) c.2125C>G (p.Pro709Ala) c.*2581C>G (n.*2581C>G) c.3979C>G (p.Pro1327Ala) c.3961C>G (p.Pro1321Ala) | |
22 | g.50721815C>T | CA325579698 | SHANK3 | c.3583C>T (p.Pro1195Ser) n.4167C>T c.2635C>T (p.Pro879Ser) c.2125C>T (p.Pro709Ser) c.*2581C>T (n.*2581C>T) c.3979C>T (p.Pro1327Ser) c.3961C>T (p.Pro1321Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721816C>A | CA515263583 | SHANK3 | c.3584C>A (p.Pro1195His) n.4168C>A c.2636C>A (p.Pro879His) c.2126C>A (p.Pro709His) c.*2582C>A (n.*2582C>A) c.3980C>A (p.Pro1327His) c.3962C>A (p.Pro1321His) | gnomAD v4 |
22 | g.50721816C>G | CA515263584 | SHANK3 | c.3584C>G (p.Pro1195Arg) n.4168C>G c.2636C>G (p.Pro879Arg) c.2126C>G (p.Pro709Arg) c.*2582C>G (n.*2582C>G) c.3980C>G (p.Pro1327Arg) c.3962C>G (p.Pro1321Arg) | |
22 | g.50721816C>T | CA515263585 | SHANK3 | c.3584C>T (p.Pro1195Leu) n.4168C>T c.2636C>T (p.Pro879Leu) c.2126C>T (p.Pro709Leu) c.*2582C>T (n.*2582C>T) c.3980C>T (p.Pro1327Leu) c.3962C>T (p.Pro1321Leu) | gnomAD v4 |
22 | g.50721817C>A | CA515263586 | SHANK3 | c.3585C>A (p.Pro1195=) n.4169C>A c.2637C>A (p.Pro879=) c.2127C>A (p.Pro709=) c.*2583C>A (n.*2583C>A) c.3981C>A (p.Pro1327=) c.3963C>A (p.Pro1321=) | gnomAD v4 |
22 | g.50721817C>G | CA515263588 | SHANK3 | c.3585C>G (p.Pro1195=) n.4169C>G c.2637C>G (p.Pro879=) c.2127C>G (p.Pro709=) c.*2583C>G (n.*2583C>G) c.3981C>G (p.Pro1327=) c.3963C>G (p.Pro1321=) | gnomAD v4 |
22 | g.50721817C>T | CA515263589 | SHANK3 | c.3585C>T (p.Pro1195=) n.4169C>T c.2637C>T (p.Pro879=) c.2127C>T (p.Pro709=) c.*2583C>T (n.*2583C>T) c.3981C>T (p.Pro1327=) c.3963C>T (p.Pro1321=) | gnomAD v4 |
22 | g.50721818T>A | CA515263590 | SHANK3 | c.3586T>A (p.Ser1196Thr) n.4170T>A c.2638T>A (p.Ser880Thr) c.2128T>A (p.Ser710Thr) c.*2584T>A (n.*2584T>A) c.3982T>A (p.Ser1328Thr) c.3964T>A (p.Ser1322Thr) | |
22 | g.50721818T>C | CA515263591 | SHANK3 | c.3586T>C (p.Ser1196Pro) n.4170T>C c.2638T>C (p.Ser880Pro) c.2128T>C (p.Ser710Pro) c.*2584T>C (n.*2584T>C) c.3982T>C (p.Ser1328Pro) c.3964T>C (p.Ser1322Pro) | |
22 | g.50721818T>G | CA515263592 | SHANK3 | c.3586T>G (p.Ser1196Ala) n.4170T>G c.2638T>G (p.Ser880Ala) c.2128T>G (p.Ser710Ala) c.*2584T>G (n.*2584T>G) c.3982T>G (p.Ser1328Ala) c.3964T>G (p.Ser1322Ala) | |
22 | g.50721819C>A | CA515263593 | SHANK3 | c.3587C>A (p.Ser1196Ter) n.4171C>A c.2639C>A (p.Ser880Ter) c.2129C>A (p.Ser710Ter) c.*2585C>A (n.*2585C>A) c.3983C>A (p.Ser1328Ter) c.3965C>A (p.Ser1322Ter) | gnomAD v4 |
22 | g.50721819C= | CA2411008478 | SHANK3 | c.3587C= (p.Ser1196=) n.4171C= c.2639C= (p.Ser880=) c.2129C= (p.Ser710=) c.*2585C= (n.*2585C=) c.3983C= (p.Ser1328=) c.3965C= (p.Ser1322=) | |
22 | g.50721819C>G | CA515263594 | SHANK3 | c.3587C>G (p.Ser1196Trp) n.4171C>G c.2639C>G (p.Ser880Trp) c.2129C>G (p.Ser710Trp) c.*2585C>G (n.*2585C>G) c.3983C>G (p.Ser1328Trp) c.3965C>G (p.Ser1322Trp) | dbSNP |
22 | g.50721819C>T | CA515263595 | SHANK3 | c.3587C>T (p.Ser1196Leu) n.4171C>T c.2639C>T (p.Ser880Leu) c.2129C>T (p.Ser710Leu) c.*2585C>T (n.*2585C>T) c.3983C>T (p.Ser1328Leu) c.3965C>T (p.Ser1322Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721820G>A | CA325579704 | SHANK3 | c.3588G>A (p.Ser1196=) n.4172G>A c.2640G>A (p.Ser880=) c.2130G>A (p.Ser710=) c.*2586G>A (n.*2586G>A) c.3984G>A (p.Ser1328=) c.3966G>A (p.Ser1322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721820G>C | CA515263596 | SHANK3 | c.3588G>C (p.Ser1196=) n.4172G>C c.2640G>C (p.Ser880=) c.2130G>C (p.Ser710=) c.*2586G>C (n.*2586G>C) c.3984G>C (p.Ser1328=) c.3966G>C (p.Ser1322=) | |
22 | g.50721820G= | CA2411008479 | SHANK3 | c.3588G= (p.Ser1196=) n.4172G= c.2640G= (p.Ser880=) c.2130G= (p.Ser710=) c.*2586G= (n.*2586G=) c.3984G= (p.Ser1328=) c.3966G= (p.Ser1322=) | |
22 | g.50721820G>T | CA325579709 | SHANK3 | c.3588G>T (p.Ser1196=) n.4172G>T c.2640G>T (p.Ser880=) c.2130G>T (p.Ser710=) c.*2586G>T (n.*2586G>T) c.3984G>T (p.Ser1328=) c.3966G>T (p.Ser1322=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50721821C>A | CA515263598 | SHANK3 | c.3589C>A (p.Pro1197Thr) n.4173C>A c.2641C>A (p.Pro881Thr) c.2131C>A (p.Pro711Thr) c.*2587C>A (n.*2587C>A) c.3985C>A (p.Pro1329Thr) c.3967C>A (p.Pro1323Thr) | |
22 | g.50721821C= | CA2411008480 | SHANK3 | c.3589C= (p.Pro1197=) n.4173C= c.2641C= (p.Pro881=) c.2131C= (p.Pro711=) c.*2587C= (n.*2587C=) c.3985C= (p.Pro1329=) c.3967C= (p.Pro1323=) | |
22 | g.50721821C>G | CA515263599 | SHANK3 | c.3589C>G (p.Pro1197Ala) n.4173C>G c.2641C>G (p.Pro881Ala) c.2131C>G (p.Pro711Ala) c.*2587C>G (n.*2587C>G) c.3985C>G (p.Pro1329Ala) c.3967C>G (p.Pro1323Ala) | dbSNP gnomAD v2 |
22 | g.50721821C>T | CA515263601 | SHANK3 | c.3589C>T (p.Pro1197Ser) n.4173C>T c.2641C>T (p.Pro881Ser) c.2131C>T (p.Pro711Ser) c.*2587C>T (n.*2587C>T) c.3985C>T (p.Pro1329Ser) c.3967C>T (p.Pro1323Ser) | |
22 | g.50721822C>A | CA515263602 | SHANK3 | c.3590C>A (p.Pro1197His) n.4174C>A c.2642C>A (p.Pro881His) c.2132C>A (p.Pro711His) c.*2588C>A (n.*2588C>A) c.3986C>A (p.Pro1329His) c.3968C>A (p.Pro1323His) | |
22 | g.50721822C= | CA2411008481 | SHANK3 | c.3590C= (p.Pro1197=) n.4174C= c.2642C= (p.Pro881=) c.2132C= (p.Pro711=) c.*2588C= (n.*2588C=) c.3986C= (p.Pro1329=) c.3968C= (p.Pro1323=) | |
22 | g.50721822C>G | CA515263603 | SHANK3 | c.3590C>G (p.Pro1197Arg) n.4174C>G c.2642C>G (p.Pro881Arg) c.2132C>G (p.Pro711Arg) c.*2588C>G (n.*2588C>G) c.3986C>G (p.Pro1329Arg) c.3968C>G (p.Pro1323Arg) | |
22 | g.50721822C>T | CA515263604 | SHANK3 | c.3590C>T (p.Pro1197Leu) n.4174C>T c.2642C>T (p.Pro881Leu) c.2132C>T (p.Pro711Leu) c.*2588C>T (n.*2588C>T) c.3986C>T (p.Pro1329Leu) c.3968C>T (p.Pro1323Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721823C>A | CA515263605 | SHANK3 | c.3591C>A (p.Pro1197=) n.4175C>A c.2643C>A (p.Pro881=) c.2133C>A (p.Pro711=) c.*2589C>A (n.*2589C>A) c.3987C>A (p.Pro1329=) c.3969C>A (p.Pro1323=) | gnomAD v4 |
22 | g.50721823C= | CA2411008482 | SHANK3 | c.3591C= (p.Pro1197=) n.4175C= c.2643C= (p.Pro881=) c.2133C= (p.Pro711=) c.*2589C= (n.*2589C=) c.3987C= (p.Pro1329=) c.3969C= (p.Pro1323=) | |
22 | g.50721823C>G | CA515263606 | SHANK3 | c.3591C>G (p.Pro1197=) n.4175C>G c.2643C>G (p.Pro881=) c.2133C>G (p.Pro711=) c.*2589C>G (n.*2589C>G) c.3987C>G (p.Pro1329=) c.3969C>G (p.Pro1323=) | |
22 | g.50721823C>T | CA515263607 | SHANK3 | c.3591C>T (p.Pro1197=) n.4175C>T c.2643C>T (p.Pro881=) c.2133C>T (p.Pro711=) c.*2589C>T (n.*2589C>T) c.3987C>T (p.Pro1329=) c.3969C>T (p.Pro1323=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50721824A>C | CA515263608 | SHANK3 | c.3592A>C (p.Thr1198Pro) n.4176A>C c.2644A>C (p.Thr882Pro) c.2134A>C (p.Thr712Pro) c.*2590A>C (n.*2590A>C) c.3988A>C (p.Thr1330Pro) c.3970A>C (p.Thr1324Pro) | |
22 | g.50721824A>G | CA515263609 | SHANK3 | c.3592A>G (p.Thr1198Ala) n.4176A>G c.2644A>G (p.Thr882Ala) c.2134A>G (p.Thr712Ala) c.*2590A>G (n.*2590A>G) c.3988A>G (p.Thr1330Ala) c.3970A>G (p.Thr1324Ala) | gnomAD v4 |
22 | g.50721824A>T | CA515263611 | SHANK3 | c.3592A>T (p.Thr1198Ser) n.4176A>T c.2644A>T (p.Thr882Ser) c.2134A>T (p.Thr712Ser) c.*2590A>T (n.*2590A>T) c.3988A>T (p.Thr1330Ser) c.3970A>T (p.Thr1324Ser) | |
22 | g.50721825C>A | CA515263613 | SHANK3 | c.3593C>A (p.Thr1198Asn) n.4177C>A c.2645C>A (p.Thr882Asn) c.2135C>A (p.Thr712Asn) c.*2591C>A (n.*2591C>A) c.3989C>A (p.Thr1330Asn) c.3971C>A (p.Thr1324Asn) | |
22 | g.50721825C= | CA2411008483 | SHANK3 | c.3593C= (p.Thr1198=) n.4177C= c.2645C= (p.Thr882=) c.2135C= (p.Thr712=) c.*2591C= (n.*2591C=) c.3989C= (p.Thr1330=) c.3971C= (p.Thr1324=) | |
22 | g.50721825C>G | CA515263612 | SHANK3 | c.3593C>G (p.Thr1198Ser) n.4177C>G c.2645C>G (p.Thr882Ser) c.2135C>G (p.Thr712Ser) c.*2591C>G (n.*2591C>G) c.3989C>G (p.Thr1330Ser) c.3971C>G (p.Thr1324Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50721825C>T | CA10326189 | SHANK3 | c.3593C>T (p.Thr1198Ile) n.4177C>T c.2645C>T (p.Thr882Ile) c.2135C>T (p.Thr712Ile) c.*2591C>T (n.*2591C>T) c.3989C>T (p.Thr1330Ile) c.3971C>T (p.Thr1324Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |