UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721946G>A | CA10326206 | SHANK3 | c.3714G>A (p.Glu1238=) n.4298G>A c.2766G>A (p.Glu922=) c.2256G>A (p.Glu752=) c.*2712G>A (n.*2712G>A) c.4110G>A (p.Glu1370=) c.4092G>A (p.Glu1364=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721946G>C | CA515263999 | SHANK3 | c.3714G>C (p.Glu1238Asp) n.4298G>C c.2766G>C (p.Glu922Asp) c.2256G>C (p.Glu752Asp) c.*2712G>C (n.*2712G>C) c.4110G>C (p.Glu1370Asp) c.4092G>C (p.Glu1364Asp) | |
| 22 | g.50721946G= | CA2411008548 | SHANK3 | c.3714G= (p.Glu1238=) n.4298G= c.2766G= (p.Glu922=) c.2256G= (p.Glu752=) c.*2712G= (n.*2712G=) c.4110G= (p.Glu1370=) c.4092G= (p.Glu1364=) | |
| 22 | g.50721946G>T | CA515264000 | SHANK3 | c.3714G>T (p.Glu1238Asp) n.4298G>T c.2766G>T (p.Glu922Asp) c.2256G>T (p.Glu752Asp) c.*2712G>T (n.*2712G>T) c.4110G>T (p.Glu1370Asp) c.4092G>T (p.Glu1364Asp) | |
| 22 | g.50721947A>C | CA515264003 | SHANK3 | c.3715A>C (p.Thr1239Pro) n.4299A>C c.2767A>C (p.Thr923Pro) c.2257A>C (p.Thr753Pro) c.*2713A>C (n.*2713A>C) c.4111A>C (p.Thr1371Pro) c.4093A>C (p.Thr1365Pro) | |
| 22 | g.50721947A>G | CA515264002 | SHANK3 | c.3715A>G (p.Thr1239Ala) n.4299A>G c.2767A>G (p.Thr923Ala) c.2257A>G (p.Thr753Ala) c.*2713A>G (n.*2713A>G) c.4111A>G (p.Thr1371Ala) c.4093A>G (p.Thr1365Ala) | |
| 22 | g.50721947A>T | CA515264001 | SHANK3 | c.3715A>T (p.Thr1239Ser) n.4299A>T c.2767A>T (p.Thr923Ser) c.2257A>T (p.Thr753Ser) c.*2713A>T (n.*2713A>T) c.4111A>T (p.Thr1371Ser) c.4093A>T (p.Thr1365Ser) | |
| 22 | g.50721948C>A | CA515264004 | SHANK3 | c.3716C>A (p.Thr1239Asn) n.4300C>A c.2768C>A (p.Thr923Asn) c.2258C>A (p.Thr753Asn) c.*2714C>A (n.*2714C>A) c.4112C>A (p.Thr1371Asn) c.4094C>A (p.Thr1365Asn) | |
| 22 | g.50721948C>G | CA515264005 | SHANK3 | c.3716C>G (p.Thr1239Ser) n.4300C>G c.2768C>G (p.Thr923Ser) c.2258C>G (p.Thr753Ser) c.*2714C>G (n.*2714C>G) c.4112C>G (p.Thr1371Ser) c.4094C>G (p.Thr1365Ser) | |
| 22 | g.50721948C>T | CA515264006 | SHANK3 | c.3716C>T (p.Thr1239Ile) n.4300C>T c.2768C>T (p.Thr923Ile) c.2258C>T (p.Thr753Ile) c.*2714C>T (n.*2714C>T) c.4112C>T (p.Thr1371Ile) c.4094C>T (p.Thr1365Ile) | gnomAD v4 |
| 22 | g.50721949del | CA2580100017 | SHANK3 | c.3717del (p.Thr1240GlnfsTer13) n.4301del c.2769del (p.Thr924GlnfsTer13) c.2259del (p.Thr754GlnfsTer13) c.*2715del (n.*2715del) c.4113del (p.Thr1372GlnfsTer13) c.4095del (p.Thr1366GlnfsTer13) | ClinVar |
| 22 | g.50721949C>A | CA515264007 | SHANK3 | c.3717C>A (p.Thr1239=) n.4301C>A c.2769C>A (p.Thr923=) c.2259C>A (p.Thr753=) c.*2715C>A (n.*2715C>A) c.4113C>A (p.Thr1371=) c.4095C>A (p.Thr1365=) | gnomAD v4 COSMIC COSMIC |
| 22 | g.50721949C= | CA2411008549 | SHANK3 | c.3717C= (p.Thr1239=) n.4301C= c.2769C= (p.Thr923=) c.2259C= (p.Thr753=) c.*2715C= (n.*2715C=) c.4113C= (p.Thr1371=) c.4095C= (p.Thr1365=) | |
| 22 | g.50721949C>G | CA515264009 | SHANK3 | c.3717C>G (p.Thr1239=) n.4301C>G c.2769C>G (p.Thr923=) c.2259C>G (p.Thr753=) c.*2715C>G (n.*2715C>G) c.4113C>G (p.Thr1371=) c.4095C>G (p.Thr1365=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721949C>T | CA10326207 | SHANK3 | c.3717C>T (p.Thr1239=) n.4301C>T c.2769C>T (p.Thr923=) c.2259C>T (p.Thr753=) c.*2715C>T (n.*2715C>T) c.4113C>T (p.Thr1371=) c.4095C>T (p.Thr1365=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721950A= | CA2411008550 | SHANK3 | c.3718A= (p.Thr1240=) n.4302A= c.2770A= (p.Thr924=) c.2260A= (p.Thr754=) c.*2716A= (n.*2716A=) c.4114A= (p.Thr1372=) c.4096A= (p.Thr1366=) | |
| 22 | g.50721950A>C | CA515264010 | SHANK3 | c.3718A>C (p.Thr1240Pro) n.4302A>C c.2770A>C (p.Thr924Pro) c.2260A>C (p.Thr754Pro) c.*2716A>C (n.*2716A>C) c.4114A>C (p.Thr1372Pro) c.4096A>C (p.Thr1366Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721950A>G | CA515264011 | SHANK3 | c.3718A>G (p.Thr1240Ala) n.4302A>G c.2770A>G (p.Thr924Ala) c.2260A>G (p.Thr754Ala) c.*2716A>G (n.*2716A>G) c.4114A>G (p.Thr1372Ala) c.4096A>G (p.Thr1366Ala) | |
| 22 | g.50721950A>T | CA515264012 | SHANK3 | c.3718A>T (p.Thr1240Ser) n.4302A>T c.2770A>T (p.Thr924Ser) c.2260A>T (p.Thr754Ser) c.*2716A>T (n.*2716A>T) c.4114A>T (p.Thr1372Ser) c.4096A>T (p.Thr1366Ser) | |
| 22 | g.50721951C>A | CA515264013 | SHANK3 | c.3719C>A (p.Thr1240Lys) n.4303C>A c.2771C>A (p.Thr924Lys) c.2261C>A (p.Thr754Lys) c.*2717C>A (n.*2717C>A) c.4115C>A (p.Thr1372Lys) c.4097C>A (p.Thr1366Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721951C= | CA2411008552 | SHANK3 | c.3719C= (p.Thr1240=) n.4303C= c.2771C= (p.Thr924=) c.2261C= (p.Thr754=) c.*2717C= (n.*2717C=) c.4115C= (p.Thr1372=) c.4097C= (p.Thr1366=) | |
| 22 | g.50721951C>G | CA515264014 | SHANK3 | c.3719C>G (p.Thr1240Arg) n.4303C>G c.2771C>G (p.Thr924Arg) c.2261C>G (p.Thr754Arg) c.*2717C>G (n.*2717C>G) c.4115C>G (p.Thr1372Arg) c.4097C>G (p.Thr1366Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721951C>T | CA515264015 | SHANK3 | c.3719C>T (p.Thr1240Ile) n.4303C>T c.2771C>T (p.Thr924Ile) c.2261C>T (p.Thr754Ile) c.*2717C>T (n.*2717C>T) c.4115C>T (p.Thr1372Ile) c.4097C>T (p.Thr1366Ile) | gnomAD v4 |
| 22 | g.50721951_50721954delinsCAAG | CA2411008551 | SHANK3 | c.3719_3722delinsCAAG (p.Thr1240=) n.4303_4306delinsCAAG c.2771_2774delinsCAAG (p.Thr924=) c.2261_2264delinsCAAG (p.Thr754=) c.*2717_*2720delinsCAAG (n.*2717_*2720delinsCAAG) c.4115_4118delinsCAAG (p.Thr1372=) c.4097_4100delinsCAAG (p.Thr1366=) | |
| 22 | g.50721952A>C | CA515264018 | SHANK3 | c.3720A>C (p.Thr1240=) n.4304A>C c.2772A>C (p.Thr924=) c.2262A>C (p.Thr754=) c.*2718A>C (n.*2718A>C) c.4116A>C (p.Thr1372=) c.4098A>C (p.Thr1366=) | |
| 22 | g.50721952A>G | CA515264017 | SHANK3 | c.3720A>G (p.Thr1240=) n.4304A>G c.2772A>G (p.Thr924=) c.2262A>G (p.Thr754=) c.*2718A>G (n.*2718A>G) c.4116A>G (p.Thr1372=) c.4098A>G (p.Thr1366=) | gnomAD v4 |
| 22 | g.50721952A>T | CA515264016 | SHANK3 | c.3720A>T (p.Thr1240=) n.4304A>T c.2772A>T (p.Thr924=) c.2262A>T (p.Thr754=) c.*2718A>T (n.*2718A>T) c.4116A>T (p.Thr1372=) c.4098A>T (p.Thr1366=) | |
| 22 | g.50721952_50721954del | CA640359043 | SHANK3 | c.3720_3722del (p.Ser1241del) n.4304_4306del c.2772_2774del (p.Ser925del) c.2262_2264del (p.Ser755del) c.*2718_*2720del (n.*2718_*2720del) c.4116_4118del (p.Ser1373del) c.4098_4100del (p.Ser1367del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721953A>C | CA515264019 | SHANK3 | c.3721A>C (p.Ser1241Arg) n.4305A>C c.2773A>C (p.Ser925Arg) c.2263A>C (p.Ser755Arg) c.*2719A>C (n.*2719A>C) c.4117A>C (p.Ser1373Arg) c.4099A>C (p.Ser1367Arg) | |
| 22 | g.50721953A>G | CA515264020 | SHANK3 | c.3721A>G (p.Ser1241Gly) n.4305A>G c.2773A>G (p.Ser925Gly) c.2263A>G (p.Ser755Gly) c.*2719A>G (n.*2719A>G) c.4117A>G (p.Ser1373Gly) c.4099A>G (p.Ser1367Gly) | |
| 22 | g.50721953A>T | CA515264021 | SHANK3 | c.3721A>T (p.Ser1241Cys) n.4305A>T c.2773A>T (p.Ser925Cys) c.2263A>T (p.Ser755Cys) c.*2719A>T (n.*2719A>T) c.4117A>T (p.Ser1373Cys) c.4099A>T (p.Ser1367Cys) | |
| 22 | g.50721954G>A | CA515264022 | SHANK3 | c.3722G>A (p.Ser1241Asn) n.4306G>A c.2774G>A (p.Ser925Asn) c.2264G>A (p.Ser755Asn) c.*2720G>A (n.*2720G>A) c.4118G>A (p.Ser1373Asn) c.4100G>A (p.Ser1367Asn) | |
| 22 | g.50721954G>C | CA515264023 | SHANK3 | c.3722G>C (p.Ser1241Thr) n.4306G>C c.2774G>C (p.Ser925Thr) c.2264G>C (p.Ser755Thr) c.*2720G>C (n.*2720G>C) c.4118G>C (p.Ser1373Thr) c.4100G>C (p.Ser1367Thr) | |
| 22 | g.50721954G>T | CA515264024 | SHANK3 | c.3722G>T (p.Ser1241Ile) n.4306G>T c.2774G>T (p.Ser925Ile) c.2264G>T (p.Ser755Ile) c.*2720G>T (n.*2720G>T) c.4118G>T (p.Ser1373Ile) c.4100G>T (p.Ser1367Ile) | |
| 22 | g.50721955C>A | CA515264025 | SHANK3 | c.3723C>A (p.Ser1241Arg) n.4307C>A c.2775C>A (p.Ser925Arg) c.2265C>A (p.Ser755Arg) c.*2721C>A (n.*2721C>A) c.4119C>A (p.Ser1373Arg) c.4101C>A (p.Ser1367Arg) | |
| 22 | g.50721955C= | CA2411008553 | SHANK3 | c.3723C= (p.Ser1241=) n.4307C= c.2775C= (p.Ser925=) c.2265C= (p.Ser755=) c.*2721C= (n.*2721C=) c.4119C= (p.Ser1373=) c.4101C= (p.Ser1367=) | |
| 22 | g.50721955C>G | CA515264026 | SHANK3 | c.3723C>G (p.Ser1241Arg) n.4307C>G c.2775C>G (p.Ser925Arg) c.2265C>G (p.Ser755Arg) c.*2721C>G (n.*2721C>G) c.4119C>G (p.Ser1373Arg) c.4101C>G (p.Ser1367Arg) | |
| 22 | g.50721955C>T | CA515264027 | SHANK3 | c.3723C>T (p.Ser1241=) n.4307C>T c.2775C>T (p.Ser925=) c.2265C>T (p.Ser755=) c.*2721C>T (n.*2721C>T) c.4119C>T (p.Ser1373=) c.4101C>T (p.Ser1367=) | dbSNP |
| 22 | g.50721956A>C | CA515264029 | SHANK3 | c.3724A>C (p.Thr1242Pro) n.4308A>C c.2776A>C (p.Thr926Pro) c.2266A>C (p.Thr756Pro) c.*2722A>C (n.*2722A>C) c.4120A>C (p.Thr1374Pro) c.4102A>C (p.Thr1368Pro) | |
| 22 | g.50721956A>G | CA515264030 | SHANK3 | c.3724A>G (p.Thr1242Ala) n.4308A>G c.2776A>G (p.Thr926Ala) c.2266A>G (p.Thr756Ala) c.*2722A>G (n.*2722A>G) c.4120A>G (p.Thr1374Ala) c.4102A>G (p.Thr1368Ala) | |
| 22 | g.50721956A>T | CA515264031 | SHANK3 | c.3724A>T (p.Thr1242Ser) n.4308A>T c.2776A>T (p.Thr926Ser) c.2266A>T (p.Thr756Ser) c.*2722A>T (n.*2722A>T) c.4120A>T (p.Thr1374Ser) c.4102A>T (p.Thr1368Ser) | |
| 22 | g.50721957C>A | CA515264034 | SHANK3 | c.3725C>A (p.Thr1242Asn) n.4309C>A c.2777C>A (p.Thr926Asn) c.2267C>A (p.Thr756Asn) c.*2723C>A (n.*2723C>A) c.4121C>A (p.Thr1374Asn) c.4103C>A (p.Thr1368Asn) | |
| 22 | g.50721957C= | CA2411008554 | SHANK3 | c.3725C= (p.Thr1242=) n.4309C= c.2777C= (p.Thr926=) c.2267C= (p.Thr756=) c.*2723C= (n.*2723C=) c.4121C= (p.Thr1374=) c.4103C= (p.Thr1368=) | |
| 22 | g.50721957C>G | CA515264033 | SHANK3 | c.3725C>G (p.Thr1242Ser) n.4309C>G c.2777C>G (p.Thr926Ser) c.2267C>G (p.Thr756Ser) c.*2723C>G (n.*2723C>G) c.4121C>G (p.Thr1374Ser) c.4103C>G (p.Thr1368Ser) | |
| 22 | g.50721957C>T | CA515264032 | SHANK3 | c.3725C>T (p.Thr1242Ile) n.4309C>T c.2777C>T (p.Thr926Ile) c.2267C>T (p.Thr756Ile) c.*2723C>T (n.*2723C>T) c.4121C>T (p.Thr1374Ile) c.4103C>T (p.Thr1368Ile) | dbSNP |
| 22 | g.50721958C>A | CA515264035 | SHANK3 | c.3726C>A (p.Thr1242=) n.4310C>A c.2778C>A (p.Thr926=) c.2268C>A (p.Thr756=) c.*2724C>A (n.*2724C>A) c.4122C>A (p.Thr1374=) c.4104C>A (p.Thr1368=) | |
| 22 | g.50721958C= | CA2411008555 | SHANK3 | c.3726C= (p.Thr1242=) n.4310C= c.2778C= (p.Thr926=) c.2268C= (p.Thr756=) c.*2724C= (n.*2724C=) c.4122C= (p.Thr1374=) c.4104C= (p.Thr1368=) | |
| 22 | g.50721958C>G | CA515264036 | SHANK3 | c.3726C>G (p.Thr1242=) n.4310C>G c.2778C>G (p.Thr926=) c.2268C>G (p.Thr756=) c.*2724C>G (n.*2724C>G) c.4122C>G (p.Thr1374=) c.4104C>G (p.Thr1368=) | |
| 22 | g.50721958C>T | CA515264037 | SHANK3 | c.3726C>T (p.Thr1242=) n.4310C>T c.2778C>T (p.Thr926=) c.2268C>T (p.Thr756=) c.*2724C>T (n.*2724C>T) c.4122C>T (p.Thr1374=) c.4104C>T (p.Thr1368=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721959A= | CA2411008556 | SHANK3 | c.3727A= (p.Ile1243=) n.4311A= c.2779A= (p.Ile927=) c.2269A= (p.Ile757=) c.*2725A= (n.*2725A=) c.4123A= (p.Ile1375=) c.4105A= (p.Ile1369=) | |
| 22 | g.50721959A>C | CA515264038 | SHANK3 | c.3727A>C (p.Ile1243Leu) n.4311A>C c.2779A>C (p.Ile927Leu) c.2269A>C (p.Ile757Leu) c.*2725A>C (n.*2725A>C) c.4123A>C (p.Ile1375Leu) c.4105A>C (p.Ile1369Leu) | |
| 22 | g.50721959A>G | CA515264039 | SHANK3 | c.3727A>G (p.Ile1243Val) n.4311A>G c.2779A>G (p.Ile927Val) c.2269A>G (p.Ile757Val) c.*2725A>G (n.*2725A>G) c.4123A>G (p.Ile1375Val) c.4105A>G (p.Ile1369Val) | dbSNP gnomAD v4 |
| 22 | g.50721959A>T | CA515264040 | SHANK3 | c.3727A>T (p.Ile1243Phe) n.4311A>T c.2779A>T (p.Ile927Phe) c.2269A>T (p.Ile757Phe) c.*2725A>T (n.*2725A>T) c.4123A>T (p.Ile1375Phe) c.4105A>T (p.Ile1369Phe) | |
| 22 | g.50721960T>A | CA515264041 | SHANK3 | c.3728T>A (p.Ile1243Asn) n.4312T>A c.2780T>A (p.Ile927Asn) c.2270T>A (p.Ile757Asn) c.*2726T>A (n.*2726T>A) c.4124T>A (p.Ile1375Asn) c.4106T>A (p.Ile1369Asn) | gnomAD v4 |
| 22 | g.50721960T>C | CA515264042 | SHANK3 | c.3728T>C (p.Ile1243Thr) n.4312T>C c.2780T>C (p.Ile927Thr) c.2270T>C (p.Ile757Thr) c.*2726T>C (n.*2726T>C) c.4124T>C (p.Ile1375Thr) c.4106T>C (p.Ile1369Thr) | gnomAD v4 |
| 22 | g.50721960T>G | CA515264043 | SHANK3 | c.3728T>G (p.Ile1243Ser) n.4312T>G c.2780T>G (p.Ile927Ser) c.2270T>G (p.Ile757Ser) c.*2726T>G (n.*2726T>G) c.4124T>G (p.Ile1375Ser) c.4106T>G (p.Ile1369Ser) | |
| 22 | g.50721961C>A | CA515264044 | SHANK3 | c.3729C>A (p.Ile1243=) n.4313C>A c.2781C>A (p.Ile927=) c.2271C>A (p.Ile757=) c.*2727C>A (n.*2727C>A) c.4125C>A (p.Ile1375=) c.4107C>A (p.Ile1369=) | |
| 22 | g.50721961C>G | CA515264045 | SHANK3 | c.3729C>G (p.Ile1243Met) n.4313C>G c.2781C>G (p.Ile927Met) c.2271C>G (p.Ile757Met) c.*2727C>G (n.*2727C>G) c.4125C>G (p.Ile1375Met) c.4107C>G (p.Ile1369Met) | |
| 22 | g.50721961C>T | CA515264046 | SHANK3 | c.3729C>T (p.Ile1243=) n.4313C>T c.2781C>T (p.Ile927=) c.2271C>T (p.Ile757=) c.*2727C>T (n.*2727C>T) c.4125C>T (p.Ile1375=) c.4107C>T (p.Ile1369=) | |
| 22 | g.50721962T>A | CA515264049 | SHANK3 | c.3730T>A (p.Ser1244Thr) n.4314T>A c.2782T>A (p.Ser928Thr) c.2272T>A (p.Ser758Thr) c.*2728T>A (n.*2728T>A) c.4126T>A (p.Ser1376Thr) c.4108T>A (p.Ser1370Thr) | |
| 22 | g.50721962T>C | CA515264048 | SHANK3 | c.3730T>C (p.Ser1244Pro) n.4314T>C c.2782T>C (p.Ser928Pro) c.2272T>C (p.Ser758Pro) c.*2728T>C (n.*2728T>C) c.4126T>C (p.Ser1376Pro) c.4108T>C (p.Ser1370Pro) | |
| 22 | g.50721962T>G | CA515264047 | SHANK3 | c.3730T>G (p.Ser1244Ala) n.4314T>G c.2782T>G (p.Ser928Ala) c.2272T>G (p.Ser758Ala) c.*2728T>G (n.*2728T>G) c.4126T>G (p.Ser1376Ala) c.4108T>G (p.Ser1370Ala) | |
| 22 | g.50721963C>A | CA515264050 | SHANK3 | c.3731C>A (p.Ser1244Tyr) n.4315C>A c.2783C>A (p.Ser928Tyr) c.2273C>A (p.Ser758Tyr) c.*2729C>A (n.*2729C>A) c.4127C>A (p.Ser1376Tyr) c.4109C>A (p.Ser1370Tyr) | gnomAD v4 |
| 22 | g.50721963C>G | CA515264051 | SHANK3 | c.3731C>G (p.Ser1244Cys) n.4315C>G c.2783C>G (p.Ser928Cys) c.2273C>G (p.Ser758Cys) c.*2729C>G (n.*2729C>G) c.4127C>G (p.Ser1376Cys) c.4109C>G (p.Ser1370Cys) | |
| 22 | g.50721963C>T | CA515264052 | SHANK3 | c.3731C>T (p.Ser1244Phe) n.4315C>T c.2783C>T (p.Ser928Phe) c.2273C>T (p.Ser758Phe) c.*2729C>T (n.*2729C>T) c.4127C>T (p.Ser1376Phe) c.4109C>T (p.Ser1370Phe) | |
| 22 | g.50721964C>A | CA515264053 | SHANK3 | c.3732C>A (p.Ser1244=) n.4316C>A c.2784C>A (p.Ser928=) c.2274C>A (p.Ser758=) c.*2730C>A (n.*2730C>A) c.4128C>A (p.Ser1376=) c.4110C>A (p.Ser1370=) | |
| 22 | g.50721964C= | CA2411008557 | SHANK3 | c.3732C= (p.Ser1244=) n.4316C= c.2784C= (p.Ser928=) c.2274C= (p.Ser758=) c.*2730C= (n.*2730C=) c.4128C= (p.Ser1376=) c.4110C= (p.Ser1370=) | |
| 22 | g.50721964C>G | CA515264054 | SHANK3 | c.3732C>G (p.Ser1244=) n.4316C>G c.2784C>G (p.Ser928=) c.2274C>G (p.Ser758=) c.*2730C>G (n.*2730C>G) c.4128C>G (p.Ser1376=) c.4110C>G (p.Ser1370=) | |
| 22 | g.50721964C>T | CA515264055 | SHANK3 | c.3732C>T (p.Ser1244=) n.4316C>T c.2784C>T (p.Ser928=) c.2274C>T (p.Ser758=) c.*2730C>T (n.*2730C>T) c.4128C>T (p.Ser1376=) c.4110C>T (p.Ser1370=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 22 | g.50721965A>C | CA515264058 | SHANK3 | c.3733A>C (p.Thr1245Pro) n.4317A>C c.2785A>C (p.Thr929Pro) c.2275A>C (p.Thr759Pro) c.*2731A>C (n.*2731A>C) c.4129A>C (p.Thr1377Pro) c.4111A>C (p.Thr1371Pro) | gnomAD v4 |
| 22 | g.50721965A>G | CA515264057 | SHANK3 | c.3733A>G (p.Thr1245Ala) n.4317A>G c.2785A>G (p.Thr929Ala) c.2275A>G (p.Thr759Ala) c.*2731A>G (n.*2731A>G) c.4129A>G (p.Thr1377Ala) c.4111A>G (p.Thr1371Ala) | |
| 22 | g.50721965A>T | CA515264056 | SHANK3 | c.3733A>T (p.Thr1245Ser) n.4317A>T c.2785A>T (p.Thr929Ser) c.2275A>T (p.Thr759Ser) c.*2731A>T (n.*2731A>T) c.4129A>T (p.Thr1377Ser) c.4111A>T (p.Thr1371Ser) | |
| 22 | g.50721966C>A | CA515264059 | SHANK3 | c.3734C>A (p.Thr1245Lys) n.4318C>A c.2786C>A (p.Thr929Lys) c.2276C>A (p.Thr759Lys) c.*2732C>A (n.*2732C>A) c.4130C>A (p.Thr1377Lys) c.4112C>A (p.Thr1371Lys) | |
| 22 | g.50721966C= | CA2411008558 | SHANK3 | c.3734C= (p.Thr1245=) n.4318C= c.2786C= (p.Thr929=) c.2276C= (p.Thr759=) c.*2732C= (n.*2732C=) c.4130C= (p.Thr1377=) c.4112C= (p.Thr1371=) | |
| 22 | g.50721966C>G | CA515264060 | SHANK3 | c.3734C>G (p.Thr1245Arg) n.4318C>G c.2786C>G (p.Thr929Arg) c.2276C>G (p.Thr759Arg) c.*2732C>G (n.*2732C>G) c.4130C>G (p.Thr1377Arg) c.4112C>G (p.Thr1371Arg) | |
| 22 | g.50721966C>T | CA515264061 | SHANK3 | c.3734C>T (p.Thr1245Met) n.4318C>T c.2786C>T (p.Thr929Met) c.2276C>T (p.Thr759Met) c.*2732C>T (n.*2732C>T) c.4130C>T (p.Thr1377Met) c.4112C>T (p.Thr1371Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721967G>A | CA10326208 | SHANK3 | c.3735G>A (p.Thr1245=) n.4319G>A c.2787G>A (p.Thr929=) c.2277G>A (p.Thr759=) c.*2733G>A (n.*2733G>A) c.4131G>A (p.Thr1377=) c.4113G>A (p.Thr1371=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721967G>C | CA515264062 | SHANK3 | c.3735G>C (p.Thr1245=) n.4319G>C c.2787G>C (p.Thr929=) c.2277G>C (p.Thr759=) c.*2733G>C (n.*2733G>C) c.4131G>C (p.Thr1377=) c.4113G>C (p.Thr1371=) | |
| 22 | g.50721967G= | CA2411008559 | SHANK3 | c.3735G= (p.Thr1245=) n.4319G= c.2787G= (p.Thr929=) c.2277G= (p.Thr759=) c.*2733G= (n.*2733G=) c.4131G= (p.Thr1377=) c.4113G= (p.Thr1371=) | |
| 22 | g.50721967G>T | CA515264063 | SHANK3 | c.3735G>T (p.Thr1245=) n.4319G>T c.2787G>T (p.Thr929=) c.2277G>T (p.Thr759=) c.*2733G>T (n.*2733G>T) c.4131G>T (p.Thr1377=) c.4113G>T (p.Thr1371=) | |
| 22 | g.50721968G>A | CA515264064 | SHANK3 | c.3736G>A (p.Val1246Met) n.4320G>A c.2788G>A (p.Val930Met) c.2278G>A (p.Val760Met) c.*2734G>A (n.*2734G>A) c.4132G>A (p.Val1378Met) c.4114G>A (p.Val1372Met) | |
| 22 | g.50721968G>C | CA515264066 | SHANK3 | c.3736G>C (p.Val1246Leu) n.4320G>C c.2788G>C (p.Val930Leu) c.2278G>C (p.Val760Leu) c.*2734G>C (n.*2734G>C) c.4132G>C (p.Val1378Leu) c.4114G>C (p.Val1372Leu) | |
| 22 | g.50721968G>T | CA515264065 | SHANK3 | c.3736G>T (p.Val1246Leu) n.4320G>T c.2788G>T (p.Val930Leu) c.2278G>T (p.Val760Leu) c.*2734G>T (n.*2734G>T) c.4132G>T (p.Val1378Leu) c.4114G>T (p.Val1372Leu) | |
| 22 | g.50721970_50721971del | CA2582342888 | SHANK3 | c.3738_3739del (p.Ser1247GlnfsTer14) n.4322_4323del c.2790_2791del (p.Ser931GlnfsTer14) c.2280_2281del (p.Ser761GlnfsTer14) c.*2736_*2737del (n.*2736_*2737del) c.4134_4135del (p.Ser1379GlnfsTer14) c.4116_4117del (p.Ser1373GlnfsTer14) | ClinVar |
| 22 | g.50721969T>A | CA515264067 | SHANK3 | c.3737T>A (p.Val1246Glu) n.4321T>A c.2789T>A (p.Val930Glu) c.2279T>A (p.Val760Glu) c.*2735T>A (n.*2735T>A) c.4133T>A (p.Val1378Glu) c.4115T>A (p.Val1372Glu) | |
| 22 | g.50721969T>C | CA515264068 | SHANK3 | c.3737T>C (p.Val1246Ala) n.4321T>C c.2789T>C (p.Val930Ala) c.2279T>C (p.Val760Ala) c.*2735T>C (n.*2735T>C) c.4133T>C (p.Val1378Ala) c.4115T>C (p.Val1372Ala) | gnomAD v4 |
| 22 | g.50721969T>G | CA515264069 | SHANK3 | c.3737T>G (p.Val1246Gly) n.4321T>G c.2789T>G (p.Val930Gly) c.2279T>G (p.Val760Gly) c.*2735T>G (n.*2735T>G) c.4133T>G (p.Val1378Gly) c.4115T>G (p.Val1372Gly) | |
| 22 | g.50721970G>A | CA515264070 | SHANK3 | c.3738G>A (p.Val1246=) n.4322G>A c.2790G>A (p.Val930=) c.2280G>A (p.Val760=) c.*2736G>A (n.*2736G>A) c.4134G>A (p.Val1378=) c.4116G>A (p.Val1372=) | dbSNP gnomAD v2 |
| 22 | g.50721970G>C | CA515264071 | SHANK3 | c.3738G>C (p.Val1246=) n.4322G>C c.2790G>C (p.Val930=) c.2280G>C (p.Val760=) c.*2736G>C (n.*2736G>C) c.4134G>C (p.Val1378=) c.4116G>C (p.Val1372=) | COSMIC COSMIC |
| 22 | g.50721970G= | CA2411008560 | SHANK3 | c.3738G= (p.Val1246=) n.4322G= c.2790G= (p.Val930=) c.2280G= (p.Val760=) c.*2736G= (n.*2736G=) c.4134G= (p.Val1378=) c.4116G= (p.Val1372=) | |
| 22 | g.50721970G>T | CA515264072 | SHANK3 | c.3738G>T (p.Val1246=) n.4322G>T c.2790G>T (p.Val930=) c.2280G>T (p.Val760=) c.*2736G>T (n.*2736G>T) c.4134G>T (p.Val1378=) c.4116G>T (p.Val1372=) | |
| 22 | g.50721971T>A | CA515264073 | SHANK3 | c.3739T>A (p.Ser1247Thr) n.4323T>A c.2791T>A (p.Ser931Thr) c.2281T>A (p.Ser761Thr) c.*2737T>A (n.*2737T>A) c.4135T>A (p.Ser1379Thr) c.4117T>A (p.Ser1373Thr) | |
| 22 | g.50721971T>C | CA515264074 | SHANK3 | c.3739T>C (p.Ser1247Pro) n.4323T>C c.2791T>C (p.Ser931Pro) c.2281T>C (p.Ser761Pro) c.*2737T>C (n.*2737T>C) c.4135T>C (p.Ser1379Pro) c.4117T>C (p.Ser1373Pro) | |
| 22 | g.50721971T>G | CA515264075 | SHANK3 | c.3739T>G (p.Ser1247Ala) n.4323T>G c.2791T>G (p.Ser931Ala) c.2281T>G (p.Ser761Ala) c.*2737T>G (n.*2737T>G) c.4135T>G (p.Ser1379Ala) c.4117T>G (p.Ser1373Ala) | |
| 22 | g.50721972C>A | CA515264076 | SHANK3 | c.3740C>A (p.Ser1247Tyr) n.4324C>A c.2792C>A (p.Ser931Tyr) c.2282C>A (p.Ser761Tyr) c.*2738C>A (n.*2738C>A) c.4136C>A (p.Ser1379Tyr) c.4118C>A (p.Ser1373Tyr) | |
| 22 | g.50721972C>G | CA515264077 | SHANK3 | c.3740C>G (p.Ser1247Cys) n.4324C>G c.2792C>G (p.Ser931Cys) c.2282C>G (p.Ser761Cys) c.*2738C>G (n.*2738C>G) c.4136C>G (p.Ser1379Cys) c.4118C>G (p.Ser1373Cys) | |
| 22 | g.50721972C>T | CA515264078 | SHANK3 | c.3740C>T (p.Ser1247Phe) n.4324C>T c.2792C>T (p.Ser931Phe) c.2282C>T (p.Ser761Phe) c.*2738C>T (n.*2738C>T) c.4136C>T (p.Ser1379Phe) c.4118C>T (p.Ser1373Phe) | |
| 22 | g.50721973C>A | CA515264079 | SHANK3 | c.3741C>A (p.Ser1247=) n.4325C>A c.2793C>A (p.Ser931=) c.2283C>A (p.Ser761=) c.*2739C>A (n.*2739C>A) c.4137C>A (p.Ser1379=) c.4119C>A (p.Ser1373=) | gnomAD v4 |
| 22 | g.50721973C= | CA2411008561 | SHANK3 | c.3741C= (p.Ser1247=) n.4325C= c.2793C= (p.Ser931=) c.2283C= (p.Ser761=) c.*2739C= (n.*2739C=) c.4137C= (p.Ser1379=) c.4119C= (p.Ser1373=) | |
| 22 | g.50721973C>G | CA515264080 | SHANK3 | c.3741C>G (p.Ser1247=) n.4325C>G c.2793C>G (p.Ser931=) c.2283C>G (p.Ser761=) c.*2739C>G (n.*2739C>G) c.4137C>G (p.Ser1379=) c.4119C>G (p.Ser1373=) | |
| 22 | g.50721973C>T | CA10326209 | SHANK3 | c.3741C>T (p.Ser1247=) n.4325C>T c.2793C>T (p.Ser931=) c.2283C>T (p.Ser761=) c.*2739C>T (n.*2739C>T) c.4137C>T (p.Ser1379=) c.4119C>T (p.Ser1373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721974A>C | CA515264081 | SHANK3 | c.3742A>C (p.Ser1248Arg) n.4326A>C c.2794A>C (p.Ser932Arg) c.2284A>C (p.Ser762Arg) c.*2740A>C (n.*2740A>C) c.4138A>C (p.Ser1380Arg) c.4120A>C (p.Ser1374Arg) | |
| 22 | g.50721974A>G | CA515264082 | SHANK3 | c.3742A>G (p.Ser1248Gly) n.4326A>G c.2794A>G (p.Ser932Gly) c.2284A>G (p.Ser762Gly) c.*2740A>G (n.*2740A>G) c.4138A>G (p.Ser1380Gly) c.4120A>G (p.Ser1374Gly) | gnomAD v4 |
| 22 | g.50721974A>T | CA515264083 | SHANK3 | c.3742A>T (p.Ser1248Cys) n.4326A>T c.2794A>T (p.Ser932Cys) c.2284A>T (p.Ser762Cys) c.*2740A>T (n.*2740A>T) c.4138A>T (p.Ser1380Cys) c.4120A>T (p.Ser1374Cys) | |
| 22 | g.50721975G>A | CA515264084 | SHANK3 | c.3743G>A (p.Ser1248Asn) n.4327G>A c.2795G>A (p.Ser932Asn) c.2285G>A (p.Ser762Asn) c.*2741G>A (n.*2741G>A) c.4139G>A (p.Ser1380Asn) c.4121G>A (p.Ser1374Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721975G>C | CA515264085 | SHANK3 | c.3743G>C (p.Ser1248Thr) n.4327G>C c.2795G>C (p.Ser932Thr) c.2285G>C (p.Ser762Thr) c.*2741G>C (n.*2741G>C) c.4139G>C (p.Ser1380Thr) c.4121G>C (p.Ser1374Thr) | |
| 22 | g.50721975G= | CA2411008562 | SHANK3 | c.3743G= (p.Ser1248=) n.4327G= c.2795G= (p.Ser932=) c.2285G= (p.Ser762=) c.*2741G= (n.*2741G=) c.4139G= (p.Ser1380=) c.4121G= (p.Ser1374=) | |
| 22 | g.50721975G>T | CA515264086 | SHANK3 | c.3743G>T (p.Ser1248Ile) n.4327G>T c.2795G>T (p.Ser932Ile) c.2285G>T (p.Ser762Ile) c.*2741G>T (n.*2741G>T) c.4139G>T (p.Ser1380Ile) c.4121G>T (p.Ser1374Ile) | |
| 22 | g.50721976C>A | CA515264087 | SHANK3 | c.3744C>A (p.Ser1248Arg) n.4328C>A c.2796C>A (p.Ser932Arg) c.2286C>A (p.Ser762Arg) c.*2742C>A (n.*2742C>A) c.4140C>A (p.Ser1380Arg) c.4122C>A (p.Ser1374Arg) | gnomAD v4 |
| 22 | g.50721976C= | CA2411008563 | SHANK3 | c.3744C= (p.Ser1248=) n.4328C= c.2796C= (p.Ser932=) c.2286C= (p.Ser762=) c.*2742C= (n.*2742C=) c.4140C= (p.Ser1380=) c.4122C= (p.Ser1374=) | |
| 22 | g.50721976C>G | CA515264088 | SHANK3 | c.3744C>G (p.Ser1248Arg) n.4328C>G c.2796C>G (p.Ser932Arg) c.2286C>G (p.Ser762Arg) c.*2742C>G (n.*2742C>G) c.4140C>G (p.Ser1380Arg) c.4122C>G (p.Ser1374Arg) | |
| 22 | g.50721976C>T | CA515264089 | SHANK3 | c.3744C>T (p.Ser1248=) n.4328C>T c.2796C>T (p.Ser932=) c.2286C>T (p.Ser762=) c.*2742C>T (n.*2742C>T) c.4140C>T (p.Ser1380=) c.4122C>T (p.Ser1374=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721977A>C | CA515264090 | SHANK3 | c.3745A>C (p.Met1249Leu) n.4329A>C c.2797A>C (p.Met933Leu) c.2287A>C (p.Met763Leu) c.*2743A>C (n.*2743A>C) c.4141A>C (p.Met1381Leu) c.4123A>C (p.Met1375Leu) | |
| 22 | g.50721977A>G | CA515264091 | SHANK3 | c.3745A>G (p.Met1249Val) n.4329A>G c.2797A>G (p.Met933Val) c.2287A>G (p.Met763Val) c.*2743A>G (n.*2743A>G) c.4141A>G (p.Met1381Val) c.4123A>G (p.Met1375Val) | gnomAD v4 |
| 22 | g.50721977A>T | CA515264092 | SHANK3 | c.3745A>T (p.Met1249Leu) n.4329A>T c.2797A>T (p.Met933Leu) c.2287A>T (p.Met763Leu) c.*2743A>T (n.*2743A>T) c.4141A>T (p.Met1381Leu) c.4123A>T (p.Met1375Leu) | |
| 22 | g.50721978T>A | CA515264095 | SHANK3 | c.3746T>A (p.Met1249Lys) n.4330T>A c.2798T>A (p.Met933Lys) c.2288T>A (p.Met763Lys) c.*2744T>A (n.*2744T>A) c.4142T>A (p.Met1381Lys) c.4124T>A (p.Met1375Lys) | |
| 22 | g.50721978T>C | CA515264094 | SHANK3 | c.3746T>C (p.Met1249Thr) n.4330T>C c.2798T>C (p.Met933Thr) c.2288T>C (p.Met763Thr) c.*2744T>C (n.*2744T>C) c.4142T>C (p.Met1381Thr) c.4124T>C (p.Met1375Thr) | |
| 22 | g.50721978T>G | CA515264093 | SHANK3 | c.3746T>G (p.Met1249Arg) n.4330T>G c.2798T>G (p.Met933Arg) c.2288T>G (p.Met763Arg) c.*2744T>G (n.*2744T>G) c.4142T>G (p.Met1381Arg) c.4124T>G (p.Met1375Arg) | |
| 22 | g.50721979G>A | CA515264096 | SHANK3 | c.3747G>A (p.Met1249Ile) n.4331G>A c.2799G>A (p.Met933Ile) c.2289G>A (p.Met763Ile) c.*2745G>A (n.*2745G>A) c.4143G>A (p.Met1381Ile) c.4125G>A (p.Met1375Ile) | |
| 22 | g.50721979G>C | CA515264097 | SHANK3 | c.3747G>C (p.Met1249Ile) n.4331G>C c.2799G>C (p.Met933Ile) c.2289G>C (p.Met763Ile) c.*2745G>C (n.*2745G>C) c.4143G>C (p.Met1381Ile) c.4125G>C (p.Met1375Ile) | |
| 22 | g.50721979G>T | CA515264098 | SHANK3 | c.3747G>T (p.Met1249Ile) n.4331G>T c.2799G>T (p.Met933Ile) c.2289G>T (p.Met763Ile) c.*2745G>T (n.*2745G>T) c.4143G>T (p.Met1381Ile) c.4125G>T (p.Met1375Ile) | gnomAD v4 |
| 22 | g.50721980T>A | CA515264099 | SHANK3 | c.3748T>A (p.Ser1250Thr) n.4332T>A c.2800T>A (p.Ser934Thr) c.2290T>A (p.Ser764Thr) c.*2746T>A (n.*2746T>A) c.4144T>A (p.Ser1382Thr) c.4126T>A (p.Ser1376Thr) | |
| 22 | g.50721980T>C | CA515264100 | SHANK3 | c.3748T>C (p.Ser1250Pro) n.4332T>C c.2800T>C (p.Ser934Pro) c.2290T>C (p.Ser764Pro) c.*2746T>C (n.*2746T>C) c.4144T>C (p.Ser1382Pro) c.4126T>C (p.Ser1376Pro) | |
| 22 | g.50721980T>G | CA515264101 | SHANK3 | c.3748T>G (p.Ser1250Ala) n.4332T>G c.2800T>G (p.Ser934Ala) c.2290T>G (p.Ser764Ala) c.*2746T>G (n.*2746T>G) c.4144T>G (p.Ser1382Ala) c.4126T>G (p.Ser1376Ala) | |
| 22 | g.50721981C>A | CA515264102 | SHANK3 | c.3749C>A (p.Ser1250Tyr) n.4333C>A c.2801C>A (p.Ser934Tyr) c.2291C>A (p.Ser764Tyr) c.*2747C>A (n.*2747C>A) c.4145C>A (p.Ser1382Tyr) c.4127C>A (p.Ser1376Tyr) | gnomAD v4 |
| 22 | g.50721981C= | CA2411008564 | SHANK3 | c.3749C= (p.Ser1250=) n.4333C= c.2801C= (p.Ser934=) c.2291C= (p.Ser764=) c.*2747C= (n.*2747C=) c.4145C= (p.Ser1382=) c.4127C= (p.Ser1376=) | |
| 22 | g.50721981C>G | CA515264103 | SHANK3 | c.3749C>G (p.Ser1250Cys) n.4333C>G c.2801C>G (p.Ser934Cys) c.2291C>G (p.Ser764Cys) c.*2747C>G (n.*2747C>G) c.4145C>G (p.Ser1382Cys) c.4127C>G (p.Ser1376Cys) | |
| 22 | g.50721981C>T | CA515264104 | SHANK3 | c.3749C>T (p.Ser1250Phe) n.4333C>T c.2801C>T (p.Ser934Phe) c.2291C>T (p.Ser764Phe) c.*2747C>T (n.*2747C>T) c.4145C>T (p.Ser1382Phe) c.4127C>T (p.Ser1376Phe) | dbSNP |
| 22 | g.50721982C>A | CA515264105 | SHANK3 | c.3750C>A (p.Ser1250=) n.4334C>A c.2802C>A (p.Ser934=) c.2292C>A (p.Ser764=) c.*2748C>A (n.*2748C>A) c.4146C>A (p.Ser1382=) c.4128C>A (p.Ser1376=) | |
| 22 | g.50721982C= | CA2411008565 | SHANK3 | c.3750C= (p.Ser1250=) n.4334C= c.2802C= (p.Ser934=) c.2292C= (p.Ser764=) c.*2748C= (n.*2748C=) c.4146C= (p.Ser1382=) c.4128C= (p.Ser1376=) | |
| 22 | g.50721982C>G | CA515264106 | SHANK3 | c.3750C>G (p.Ser1250=) n.4334C>G c.2802C>G (p.Ser934=) c.2292C>G (p.Ser764=) c.*2748C>G (n.*2748C>G) c.4146C>G (p.Ser1382=) c.4128C>G (p.Ser1376=) | |
| 22 | g.50721982C>T | CA515264107 | SHANK3 | c.3750C>T (p.Ser1250=) n.4334C>T c.2802C>T (p.Ser934=) c.2292C>T (p.Ser764=) c.*2748C>T (n.*2748C>T) c.4146C>T (p.Ser1382=) c.4128C>T (p.Ser1376=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50721983A>C | CA515264110 | SHANK3 | c.3751A>C (p.Thr1251Pro) n.4335A>C c.2803A>C (p.Thr935Pro) c.2293A>C (p.Thr765Pro) c.*2749A>C (n.*2749A>C) c.4147A>C (p.Thr1383Pro) c.4129A>C (p.Thr1377Pro) | |
| 22 | g.50721983A>G | CA515264109 | SHANK3 | c.3751A>G (p.Thr1251Ala) n.4335A>G c.2803A>G (p.Thr935Ala) c.2293A>G (p.Thr765Ala) c.*2749A>G (n.*2749A>G) c.4147A>G (p.Thr1383Ala) c.4129A>G (p.Thr1377Ala) | |
| 22 | g.50721983A>T | CA515264108 | SHANK3 | c.3751A>T (p.Thr1251Ser) n.4335A>T c.2803A>T (p.Thr935Ser) c.2293A>T (p.Thr765Ser) c.*2749A>T (n.*2749A>T) c.4147A>T (p.Thr1383Ser) c.4129A>T (p.Thr1377Ser) | |
| 22 | g.50721984C>A | CA515264111 | SHANK3 | c.3752C>A (p.Thr1251Asn) n.4336C>A c.2804C>A (p.Thr935Asn) c.2294C>A (p.Thr765Asn) c.*2750C>A (n.*2750C>A) c.4148C>A (p.Thr1383Asn) c.4130C>A (p.Thr1377Asn) | |
| 22 | g.50721984C= | CA2411008566 | SHANK3 | c.3752C= (p.Thr1251=) n.4336C= c.2804C= (p.Thr935=) c.2294C= (p.Thr765=) c.*2750C= (n.*2750C=) c.4148C= (p.Thr1383=) c.4130C= (p.Thr1377=) | |
| 22 | g.50721984C>G | CA515264113 | SHANK3 | c.3752C>G (p.Thr1251Ser) n.4336C>G c.2804C>G (p.Thr935Ser) c.2294C>G (p.Thr765Ser) c.*2750C>G (n.*2750C>G) c.4148C>G (p.Thr1383Ser) c.4130C>G (p.Thr1377Ser) | |
| 22 | g.50721984C>T | CA515264112 | SHANK3 | c.3752C>T (p.Thr1251Ile) n.4336C>T c.2804C>T (p.Thr935Ile) c.2294C>T (p.Thr765Ile) c.*2750C>T (n.*2750C>T) c.4148C>T (p.Thr1383Ile) c.4130C>T (p.Thr1377Ile) | dbSNP gnomAD v2 |
| 22 | g.50721985C>A | CA515264114 | SHANK3 | c.3753C>A (p.Thr1251=) n.4337C>A c.2805C>A (p.Thr935=) c.2295C>A (p.Thr765=) c.*2751C>A (n.*2751C>A) c.4149C>A (p.Thr1383=) c.4131C>A (p.Thr1377=) | |
| 22 | g.50721985C= | CA2411008567 | SHANK3 | c.3753C= (p.Thr1251=) n.4337C= c.2805C= (p.Thr935=) c.2295C= (p.Thr765=) c.*2751C= (n.*2751C=) c.4149C= (p.Thr1383=) c.4131C= (p.Thr1377=) | |
| 22 | g.50721985C>G | CA515264116 | SHANK3 | c.3753C>G (p.Thr1251=) n.4337C>G c.2805C>G (p.Thr935=) c.2295C>G (p.Thr765=) c.*2751C>G (n.*2751C>G) c.4149C>G (p.Thr1383=) c.4131C>G (p.Thr1377=) | |
| 22 | g.50721985C>T | CA515264115 | SHANK3 | c.3753C>T (p.Thr1251=) n.4337C>T c.2805C>T (p.Thr935=) c.2295C>T (p.Thr765=) c.*2751C>T (n.*2751C>T) c.4149C>T (p.Thr1383=) c.4131C>T (p.Thr1377=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721986T>A | CA515264117 | SHANK3 | c.3754T>A (p.Leu1252Met) n.4338T>A c.2806T>A (p.Leu936Met) c.2296T>A (p.Leu766Met) c.*2752T>A (n.*2752T>A) c.4150T>A (p.Leu1384Met) c.4132T>A (p.Leu1378Met) | |
| 22 | g.50721986T>C | CA515264118 | SHANK3 | c.3754T>C (p.Leu1252=) n.4338T>C c.2806T>C (p.Leu936=) c.2296T>C (p.Leu766=) c.*2752T>C (n.*2752T>C) c.4150T>C (p.Leu1384=) c.4132T>C (p.Leu1378=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721986T>G | CA515264119 | SHANK3 | c.3754T>G (p.Leu1252Val) n.4338T>G c.2806T>G (p.Leu936Val) c.2296T>G (p.Leu766Val) c.*2752T>G (n.*2752T>G) c.4150T>G (p.Leu1384Val) c.4132T>G (p.Leu1378Val) | gnomAD v4 |
| 22 | g.50721986T= | CA2411008568 | SHANK3 | c.3754T= (p.Leu1252=) n.4338T= c.2806T= (p.Leu936=) c.2296T= (p.Leu766=) c.*2752T= (n.*2752T=) c.4150T= (p.Leu1384=) c.4132T= (p.Leu1378=) | |
| 22 | g.50721987T>A | CA515264120 | SHANK3 | c.3755T>A (p.Leu1252Ter) n.4339T>A c.2807T>A (p.Leu936Ter) c.2297T>A (p.Leu766Ter) c.*2753T>A (n.*2753T>A) c.4151T>A (p.Leu1384Ter) c.4133T>A (p.Leu1378Ter) | |
| 22 | g.50721987T>C | CA515264121 | SHANK3 | c.3755T>C (p.Leu1252Ser) n.4339T>C c.2807T>C (p.Leu936Ser) c.2297T>C (p.Leu766Ser) c.*2753T>C (n.*2753T>C) c.4151T>C (p.Leu1384Ser) c.4133T>C (p.Leu1378Ser) | |
| 22 | g.50721987T>G | CA515264122 | SHANK3 | c.3755T>G (p.Leu1252Trp) n.4339T>G c.2807T>G (p.Leu936Trp) c.2297T>G (p.Leu766Trp) c.*2753T>G (n.*2753T>G) c.4151T>G (p.Leu1384Trp) c.4133T>G (p.Leu1378Trp) | |
| 22 | g.50721988G>A | CA325579828 | SHANK3 | c.3756G>A (p.Leu1252=) n.4340G>A c.2808G>A (p.Leu936=) c.2298G>A (p.Leu766=) c.*2754G>A (n.*2754G>A) c.4152G>A (p.Leu1384=) c.4134G>A (p.Leu1378=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721988G>C | CA515264124 | SHANK3 | c.3756G>C (p.Leu1252Phe) n.4340G>C c.2808G>C (p.Leu936Phe) c.2298G>C (p.Leu766Phe) c.*2754G>C (n.*2754G>C) c.4152G>C (p.Leu1384Phe) c.4134G>C (p.Leu1378Phe) | |
| 22 | g.50721988G= | CA2411008569 | SHANK3 | c.3756G= (p.Leu1252=) n.4340G= c.2808G= (p.Leu936=) c.2298G= (p.Leu766=) c.*2754G= (n.*2754G=) c.4152G= (p.Leu1384=) c.4134G= (p.Leu1378=) | |
| 22 | g.50721988G>T | CA515264123 | SHANK3 | c.3756G>T (p.Leu1252Phe) n.4340G>T c.2808G>T (p.Leu936Phe) c.2298G>T (p.Leu766Phe) c.*2754G>T (n.*2754G>T) c.4152G>T (p.Leu1384Phe) c.4134G>T (p.Leu1378Phe) | |
| 22 | g.50721989A>C | CA515264125 | SHANK3 | c.3757A>C (p.Ser1253Arg) n.4341A>C c.2809A>C (p.Ser937Arg) c.2299A>C (p.Ser767Arg) c.*2755A>C (n.*2755A>C) c.4153A>C (p.Ser1385Arg) c.4135A>C (p.Ser1379Arg) | |
| 22 | g.50721989A>G | CA515264126 | SHANK3 | c.3757A>G (p.Ser1253Gly) n.4341A>G c.2809A>G (p.Ser937Gly) c.2299A>G (p.Ser767Gly) c.*2755A>G (n.*2755A>G) c.4153A>G (p.Ser1385Gly) c.4135A>G (p.Ser1379Gly) | |
| 22 | g.50721989A>T | CA515264127 | SHANK3 | c.3757A>T (p.Ser1253Cys) n.4341A>T c.2809A>T (p.Ser937Cys) c.2299A>T (p.Ser767Cys) c.*2755A>T (n.*2755A>T) c.4153A>T (p.Ser1385Cys) c.4135A>T (p.Ser1379Cys) | gnomAD v4 |
| 22 | g.50721990G>A | CA515264128 | SHANK3 | c.3758G>A (p.Ser1253Asn) n.4342G>A c.2810G>A (p.Ser937Asn) c.2300G>A (p.Ser767Asn) c.*2756G>A (n.*2756G>A) c.4154G>A (p.Ser1385Asn) c.4136G>A (p.Ser1379Asn) | |
| 22 | g.50721990G>C | CA515264129 | SHANK3 | c.3758G>C (p.Ser1253Thr) n.4342G>C c.2810G>C (p.Ser937Thr) c.2300G>C (p.Ser767Thr) c.*2756G>C (n.*2756G>C) c.4154G>C (p.Ser1385Thr) c.4136G>C (p.Ser1379Thr) | |
| 22 | g.50721990G>T | CA515264130 | SHANK3 | c.3758G>T (p.Ser1253Ile) n.4342G>T c.2810G>T (p.Ser937Ile) c.2300G>T (p.Ser767Ile) c.*2756G>T (n.*2756G>T) c.4154G>T (p.Ser1385Ile) c.4136G>T (p.Ser1379Ile) | gnomAD v4 |
| 22 | g.50721991C>A | CA515264131 | SHANK3 | c.3759C>A (p.Ser1253Arg) n.4343C>A c.2811C>A (p.Ser937Arg) c.2301C>A (p.Ser767Arg) c.*2757C>A (n.*2757C>A) c.4155C>A (p.Ser1385Arg) c.4137C>A (p.Ser1379Arg) | gnomAD v4 |
| 22 | g.50721991C= | CA2411008570 | SHANK3 | c.3759C= (p.Ser1253=) n.4343C= c.2811C= (p.Ser937=) c.2301C= (p.Ser767=) c.*2757C= (n.*2757C=) c.4155C= (p.Ser1385=) c.4137C= (p.Ser1379=) | |
| 22 | g.50721991C>G | CA515264133 | SHANK3 | c.3759C>G (p.Ser1253Arg) n.4343C>G c.2811C>G (p.Ser937Arg) c.2301C>G (p.Ser767Arg) c.*2757C>G (n.*2757C>G) c.4155C>G (p.Ser1385Arg) c.4137C>G (p.Ser1379Arg) | |
| 22 | g.50721991C>T | CA515264132 | SHANK3 | c.3759C>T (p.Ser1253=) n.4343C>T c.2811C>T (p.Ser937=) c.2301C>T (p.Ser767=) c.*2757C>T (n.*2757C>T) c.4155C>T (p.Ser1385=) c.4137C>T (p.Ser1379=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50721992T>A | CA515264134 | SHANK3 | c.3760T>A (p.Ser1254Thr) n.4344T>A c.2812T>A (p.Ser938Thr) c.2302T>A (p.Ser768Thr) c.*2758T>A (n.*2758T>A) c.4156T>A (p.Ser1386Thr) c.4138T>A (p.Ser1380Thr) | |
| 22 | g.50721992T>C | CA515264135 | SHANK3 | c.3760T>C (p.Ser1254Pro) n.4344T>C c.2812T>C (p.Ser938Pro) c.2302T>C (p.Ser768Pro) c.*2758T>C (n.*2758T>C) c.4156T>C (p.Ser1386Pro) c.4138T>C (p.Ser1380Pro) | |
| 22 | g.50721992T>G | CA515264136 | SHANK3 | c.3760T>G (p.Ser1254Ala) n.4344T>G c.2812T>G (p.Ser938Ala) c.2302T>G (p.Ser768Ala) c.*2758T>G (n.*2758T>G) c.4156T>G (p.Ser1386Ala) c.4138T>G (p.Ser1380Ala) | |
| 22 | g.50721993C>A | CA515264137 | SHANK3 | c.3761C>A (p.Ser1254Ter) n.4345C>A c.2813C>A (p.Ser938Ter) c.2303C>A (p.Ser768Ter) c.*2759C>A (n.*2759C>A) c.4157C>A (p.Ser1386Ter) c.4139C>A (p.Ser1380Ter) | gnomAD v4 |
| 22 | g.50721993C= | CA2411008571 | SHANK3 | c.3761C= (p.Ser1254=) n.4345C= c.2813C= (p.Ser938=) c.2303C= (p.Ser768=) c.*2759C= (n.*2759C=) c.4157C= (p.Ser1386=) c.4139C= (p.Ser1380=) | |
| 22 | g.50721993C>G | CA515264138 | SHANK3 | c.3761C>G (p.Ser1254Trp) n.4345C>G c.2813C>G (p.Ser938Trp) c.2303C>G (p.Ser768Trp) c.*2759C>G (n.*2759C>G) c.4157C>G (p.Ser1386Trp) c.4139C>G (p.Ser1380Trp) | gnomAD v4 |
| 22 | g.50721993C>T | CA10326210 | SHANK3 | c.3761C>T (p.Ser1254Leu) n.4345C>T c.2813C>T (p.Ser938Leu) c.2303C>T (p.Ser768Leu) c.*2759C>T (n.*2759C>T) c.4157C>T (p.Ser1386Leu) c.4139C>T (p.Ser1380Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50721994G>A | CA10326212 | SHANK3 | c.3762G>A (p.Ser1254=) n.4346G>A c.2814G>A (p.Ser938=) c.2304G>A (p.Ser768=) c.*2760G>A (n.*2760G>A) c.4158G>A (p.Ser1386=) c.4140G>A (p.Ser1380=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721994G>C | CA515264139 | SHANK3 | c.3762G>C (p.Ser1254=) n.4346G>C c.2814G>C (p.Ser938=) c.2304G>C (p.Ser768=) c.*2760G>C (n.*2760G>C) c.4158G>C (p.Ser1386=) c.4140G>C (p.Ser1380=) | dbSNP |
| 22 | g.50721994G= | CA2411008572 | SHANK3 | c.3762G= (p.Ser1254=) n.4346G= c.2814G= (p.Ser938=) c.2304G= (p.Ser768=) c.*2760G= (n.*2760G=) c.4158G= (p.Ser1386=) c.4140G= (p.Ser1380=) | |
| 22 | g.50721994G>T | CA10326211 | SHANK3 | c.3762G>T (p.Ser1254=) n.4346G>T c.2814G>T (p.Ser938=) c.2304G>T (p.Ser768=) c.*2760G>T (n.*2760G>T) c.4158G>T (p.Ser1386=) c.4140G>T (p.Ser1380=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50721995G>A | CA515264140 | SHANK3 | c.3763G>A (p.Glu1255Lys) n.4347G>A c.2815G>A (p.Glu939Lys) c.2305G>A (p.Glu769Lys) c.*2761G>A (n.*2761G>A) c.4159G>A (p.Glu1387Lys) c.4141G>A (p.Glu1381Lys) | gnomAD v4 |
| 22 | g.50721995G>C | CA515264141 | SHANK3 | c.3763G>C (p.Glu1255Gln) n.4347G>C c.2815G>C (p.Glu939Gln) c.2305G>C (p.Glu769Gln) c.*2761G>C (n.*2761G>C) c.4159G>C (p.Glu1387Gln) c.4141G>C (p.Glu1381Gln) | |
| 22 | g.50721995G>T | CA515264142 | SHANK3 | c.3763G>T (p.Glu1255Ter) n.4347G>T c.2815G>T (p.Glu939Ter) c.2305G>T (p.Glu769Ter) c.*2761G>T (n.*2761G>T) c.4159G>T (p.Glu1387Ter) c.4141G>T (p.Glu1381Ter) | gnomAD v4 |
| 22 | g.50721996A>C | CA515264143 | SHANK3 | c.3764A>C (p.Glu1255Ala) n.4348A>C c.2816A>C (p.Glu939Ala) c.2306A>C (p.Glu769Ala) c.*2762A>C (n.*2762A>C) c.4160A>C (p.Glu1387Ala) c.4142A>C (p.Glu1381Ala) | |
| 22 | g.50721996A>G | CA515264145 | SHANK3 | c.3764A>G (p.Glu1255Gly) n.4348A>G c.2816A>G (p.Glu939Gly) c.2306A>G (p.Glu769Gly) c.*2762A>G (n.*2762A>G) c.4160A>G (p.Glu1387Gly) c.4142A>G (p.Glu1381Gly) | |
| 22 | g.50721996A>T | CA515264144 | SHANK3 | c.3764A>T (p.Glu1255Val) n.4348A>T c.2816A>T (p.Glu939Val) c.2306A>T (p.Glu769Val) c.*2762A>T (n.*2762A>T) c.4160A>T (p.Glu1387Val) c.4142A>T (p.Glu1381Val) | gnomAD v4 |
| 22 | g.50721997G>A | CA515264146 | SHANK3 | c.3765G>A (p.Glu1255=) n.4349G>A c.2817G>A (p.Glu939=) c.2307G>A (p.Glu769=) c.*2763G>A (n.*2763G>A) c.4161G>A (p.Glu1387=) c.4143G>A (p.Glu1381=) | |
| 22 | g.50721997G>C | CA515264147 | SHANK3 | c.3765G>C (p.Glu1255Asp) n.4349G>C c.2817G>C (p.Glu939Asp) c.2307G>C (p.Glu769Asp) c.*2763G>C (n.*2763G>C) c.4161G>C (p.Glu1387Asp) c.4143G>C (p.Glu1381Asp) | |
| 22 | g.50721997G>T | CA515264148 | SHANK3 | c.3765G>T (p.Glu1255Asp) n.4349G>T c.2817G>T (p.Glu939Asp) c.2307G>T (p.Glu769Asp) c.*2763G>T (n.*2763G>T) c.4161G>T (p.Glu1387Asp) c.4143G>T (p.Glu1381Asp) | gnomAD v4 |
| 22 | g.50721998A>C | CA515264149 | SHANK3 | c.3766A>C (p.Ser1256Arg) n.4350A>C c.2818A>C (p.Ser940Arg) c.2308A>C (p.Ser770Arg) c.*2764A>C (n.*2764A>C) c.4162A>C (p.Ser1388Arg) c.4144A>C (p.Ser1382Arg) | |
| 22 | g.50721998A>G | CA515264150 | SHANK3 | c.3766A>G (p.Ser1256Gly) n.4350A>G c.2818A>G (p.Ser940Gly) c.2308A>G (p.Ser770Gly) c.*2764A>G (n.*2764A>G) c.4162A>G (p.Ser1388Gly) c.4144A>G (p.Ser1382Gly) | |
| 22 | g.50721998A>T | CA515264151 | SHANK3 | c.3766A>T (p.Ser1256Cys) n.4350A>T c.2818A>T (p.Ser940Cys) c.2308A>T (p.Ser770Cys) c.*2764A>T (n.*2764A>T) c.4162A>T (p.Ser1388Cys) c.4144A>T (p.Ser1382Cys) | |
| 22 | g.50721999G>A | CA515264152 | SHANK3 | c.3767G>A (p.Ser1256Asn) n.4351G>A c.2819G>A (p.Ser940Asn) c.2309G>A (p.Ser770Asn) c.*2765G>A (n.*2765G>A) c.4163G>A (p.Ser1388Asn) c.4145G>A (p.Ser1382Asn) | |
| 22 | g.50721999G>C | CA515264153 | SHANK3 | c.3767G>C (p.Ser1256Thr) n.4351G>C c.2819G>C (p.Ser940Thr) c.2309G>C (p.Ser770Thr) c.*2765G>C (n.*2765G>C) c.4163G>C (p.Ser1388Thr) c.4145G>C (p.Ser1382Thr) | |
| 22 | g.50721999G>T | CA515264154 | SHANK3 | c.3767G>T (p.Ser1256Ile) n.4351G>T c.2819G>T (p.Ser940Ile) c.2309G>T (p.Ser770Ile) c.*2765G>T (n.*2765G>T) c.4163G>T (p.Ser1388Ile) c.4145G>T (p.Ser1382Ile) | |
| 22 | g.50722000C>A | CA515264155 | SHANK3 | c.3768C>A (p.Ser1256Arg) n.4352C>A c.2820C>A (p.Ser940Arg) c.2310C>A (p.Ser770Arg) c.*2766C>A (n.*2766C>A) c.4164C>A (p.Ser1388Arg) c.4146C>A (p.Ser1382Arg) | |
| 22 | g.50722000C= | CA2411008573 | SHANK3 | c.3768C= (p.Ser1256=) n.4352C= c.2820C= (p.Ser940=) c.2310C= (p.Ser770=) c.*2766C= (n.*2766C=) c.4164C= (p.Ser1388=) c.4146C= (p.Ser1382=) | |
| 22 | g.50722000C>G | CA515264156 | SHANK3 | c.3768C>G (p.Ser1256Arg) n.4352C>G c.2820C>G (p.Ser940Arg) c.2310C>G (p.Ser770Arg) c.*2766C>G (n.*2766C>G) c.4164C>G (p.Ser1388Arg) c.4146C>G (p.Ser1382Arg) | |
| 22 | g.50722000C>T | CA10326213 | SHANK3 | c.3768C>T (p.Ser1256=) n.4352C>T c.2820C>T (p.Ser940=) c.2310C>T (p.Ser770=) c.*2766C>T (n.*2766C>T) c.4164C>T (p.Ser1388=) c.4146C>T (p.Ser1382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722001G>A | CA325579841 | SHANK3 | c.3769G>A (p.Gly1257Arg) n.4353G>A c.2821G>A (p.Gly941Arg) c.2311G>A (p.Gly771Arg) c.*2767G>A (n.*2767G>A) c.4165G>A (p.Gly1389Arg) c.4147G>A (p.Gly1383Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722001G>C | CA515264158 | SHANK3 | c.3769G>C (p.Gly1257Arg) n.4353G>C c.2821G>C (p.Gly941Arg) c.2311G>C (p.Gly771Arg) c.*2767G>C (n.*2767G>C) c.4165G>C (p.Gly1389Arg) c.4147G>C (p.Gly1383Arg) | |
| 22 | g.50722001G= | CA2411008574 | SHANK3 | c.3769G= (p.Gly1257=) n.4353G= c.2821G= (p.Gly941=) c.2311G= (p.Gly771=) c.*2767G= (n.*2767G=) c.4165G= (p.Gly1389=) c.4147G= (p.Gly1383=) | |
| 22 | g.50722001G>T | CA515264157 | SHANK3 | c.3769G>T (p.Gly1257Trp) n.4353G>T c.2821G>T (p.Gly941Trp) c.2311G>T (p.Gly771Trp) c.*2767G>T (n.*2767G>T) c.4165G>T (p.Gly1389Trp) c.4147G>T (p.Gly1383Trp) | dbSNP gnomAD v4 |
| 22 | g.50722002G>A | CA515264159 | SHANK3 | c.3770G>A (p.Gly1257Glu) n.4354G>A c.2822G>A (p.Gly941Glu) c.2312G>A (p.Gly771Glu) c.*2768G>A (n.*2768G>A) c.4166G>A (p.Gly1389Glu) c.4148G>A (p.Gly1383Glu) | |
| 22 | g.50722002G>C | CA515264160 | SHANK3 | c.3770G>C (p.Gly1257Ala) n.4354G>C c.2822G>C (p.Gly941Ala) c.2312G>C (p.Gly771Ala) c.*2768G>C (n.*2768G>C) c.4166G>C (p.Gly1389Ala) c.4148G>C (p.Gly1383Ala) | |
| 22 | g.50722002G>T | CA515264161 | SHANK3 | c.3770G>T (p.Gly1257Val) n.4354G>T c.2822G>T (p.Gly941Val) c.2312G>T (p.Gly771Val) c.*2768G>T (n.*2768G>T) c.4166G>T (p.Gly1389Val) c.4148G>T (p.Gly1383Val) | |
| 22 | g.50722003G>A | CA515264162 | SHANK3 | c.3771G>A (p.Gly1257=) n.4355G>A c.2823G>A (p.Gly941=) c.2313G>A (p.Gly771=) c.*2769G>A (n.*2769G>A) c.4167G>A (p.Gly1389=) c.4149G>A (p.Gly1383=) | gnomAD v4 |
| 22 | g.50722003G>C | CA515264163 | SHANK3 | c.3771G>C (p.Gly1257=) n.4355G>C c.2823G>C (p.Gly941=) c.2313G>C (p.Gly771=) c.*2769G>C (n.*2769G>C) c.4167G>C (p.Gly1389=) c.4149G>C (p.Gly1383=) | |
| 22 | g.50722003G>T | CA515264164 | SHANK3 | c.3771G>T (p.Gly1257=) n.4355G>T c.2823G>T (p.Gly941=) c.2313G>T (p.Gly771=) c.*2769G>T (n.*2769G>T) c.4167G>T (p.Gly1389=) c.4149G>T (p.Gly1383=) | |
| 22 | g.50722004G>A | CA515264165 | SHANK3 | c.3772G>A (p.Glu1258Lys) n.4356G>A c.2824G>A (p.Glu942Lys) c.2314G>A (p.Glu772Lys) c.*2770G>A (n.*2770G>A) c.4168G>A (p.Glu1390Lys) c.4150G>A (p.Glu1384Lys) | |
| 22 | g.50722004G>C | CA515264166 | SHANK3 | c.3772G>C (p.Glu1258Gln) n.4356G>C c.2824G>C (p.Glu942Gln) c.2314G>C (p.Glu772Gln) c.*2770G>C (n.*2770G>C) c.4168G>C (p.Glu1390Gln) c.4150G>C (p.Glu1384Gln) | |
| 22 | g.50722004G>T | CA515264167 | SHANK3 | c.3772G>T (p.Glu1258Ter) n.4356G>T c.2824G>T (p.Glu942Ter) c.2314G>T (p.Glu772Ter) c.*2770G>T (n.*2770G>T) c.4168G>T (p.Glu1390Ter) c.4150G>T (p.Glu1384Ter) | ClinVar |
| 22 | g.50722005A>C | CA515264168 | SHANK3 | c.3773A>C (p.Glu1258Ala) n.4357A>C c.2825A>C (p.Glu942Ala) c.2315A>C (p.Glu772Ala) c.*2771A>C (n.*2771A>C) c.4169A>C (p.Glu1390Ala) c.4151A>C (p.Glu1384Ala) | |
| 22 | g.50722005A>G | CA515264169 | SHANK3 | c.3773A>G (p.Glu1258Gly) n.4357A>G c.2825A>G (p.Glu942Gly) c.2315A>G (p.Glu772Gly) c.*2771A>G (n.*2771A>G) c.4169A>G (p.Glu1390Gly) c.4151A>G (p.Glu1384Gly) | |
| 22 | g.50722005A>T | CA515264170 | SHANK3 | c.3773A>T (p.Glu1258Val) n.4357A>T c.2825A>T (p.Glu942Val) c.2315A>T (p.Glu772Val) c.*2771A>T (n.*2771A>T) c.4169A>T (p.Glu1390Val) c.4151A>T (p.Glu1384Val) | |
| 22 | g.50722006A= | CA2411008575 | SHANK3 | c.3774A= (p.Glu1258=) n.4358A= c.2826A= (p.Glu942=) c.2316A= (p.Glu772=) c.*2772A= (n.*2772A=) c.4170A= (p.Glu1390=) c.4152A= (p.Glu1384=) | |
| 22 | g.50722006A>C | CA515264171 | SHANK3 | c.3774A>C (p.Glu1258Asp) n.4358A>C c.2826A>C (p.Glu942Asp) c.2316A>C (p.Glu772Asp) c.*2772A>C (n.*2772A>C) c.4170A>C (p.Glu1390Asp) c.4152A>C (p.Glu1384Asp) | gnomAD v4 |
| 22 | g.50722006A>G | CA325579843 | SHANK3 | c.3774A>G (p.Glu1258=) n.4358A>G c.2826A>G (p.Glu942=) c.2316A>G (p.Glu772=) c.*2772A>G (n.*2772A>G) c.4170A>G (p.Glu1390=) c.4152A>G (p.Glu1384=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722006A>T | CA10326214 | SHANK3 | c.3774A>T (p.Glu1258Asp) n.4358A>T c.2826A>T (p.Glu942Asp) c.2316A>T (p.Glu772Asp) c.*2772A>T (n.*2772A>T) c.4170A>T (p.Glu1390Asp) c.4152A>T (p.Glu1384Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722009_50722012del | CA2499226245 | SHANK3 | c.3777_3780del (p.Asp1261ProfsTer?) n.4361_4364del c.2829_2832del (p.Asp945ProfsTer?) c.2319_2322del (p.Asp775ProfsTer?) c.*2775_*2778del (n.*2775_*2778del) c.4173_4176del (p.Asp1393ProfsTer?) c.4155_4158del (p.Asp1387ProfsTer?) | ClinVar dbSNP |
| 22 | g.50722007C>A | CA515264172 | SHANK3 | c.3775C>A (p.Leu1259Ile) n.4359C>A c.2827C>A (p.Leu943Ile) c.2317C>A (p.Leu773Ile) c.*2773C>A (n.*2773C>A) c.4171C>A (p.Leu1391Ile) c.4153C>A (p.Leu1385Ile) | |
| 22 | g.50722007C>G | CA515264174 | SHANK3 | c.3775C>G (p.Leu1259Val) n.4359C>G c.2827C>G (p.Leu943Val) c.2317C>G (p.Leu773Val) c.*2773C>G (n.*2773C>G) c.4171C>G (p.Leu1391Val) c.4153C>G (p.Leu1385Val) | |
| 22 | g.50722007C>T | CA515264173 | SHANK3 | c.3775C>T (p.Leu1259Phe) n.4359C>T c.2827C>T (p.Leu943Phe) c.2317C>T (p.Leu773Phe) c.*2773C>T (n.*2773C>T) c.4171C>T (p.Leu1391Phe) c.4153C>T (p.Leu1385Phe) | |
| 22 | g.50722008T>A | CA515264175 | SHANK3 | c.3776T>A (p.Leu1259His) n.4360T>A c.2828T>A (p.Leu943His) c.2318T>A (p.Leu773His) c.*2774T>A (n.*2774T>A) c.4172T>A (p.Leu1391His) c.4154T>A (p.Leu1385His) | |
| 22 | g.50722008T>C | CA325579847 | SHANK3 | c.3776T>C (p.Leu1259Pro) n.4360T>C c.2828T>C (p.Leu943Pro) c.2318T>C (p.Leu773Pro) c.*2774T>C (n.*2774T>C) c.4172T>C (p.Leu1391Pro) c.4154T>C (p.Leu1385Pro) | dbSNP |
| 22 | g.50722008T>G | CA515264176 | SHANK3 | c.3776T>G (p.Leu1259Arg) n.4360T>G c.2828T>G (p.Leu943Arg) c.2318T>G (p.Leu773Arg) c.*2774T>G (n.*2774T>G) c.4172T>G (p.Leu1391Arg) c.4154T>G (p.Leu1385Arg) | |
| 22 | g.50722008T= | CA2411008576 | SHANK3 | c.3776T= (p.Leu1259=) n.4360T= c.2828T= (p.Leu943=) c.2318T= (p.Leu773=) c.*2774T= (n.*2774T=) c.4172T= (p.Leu1391=) c.4154T= (p.Leu1385=) | |
| 22 | g.50722009C>A | CA325579850 | SHANK3 | c.3777C>A (p.Leu1259=) n.4361C>A c.2829C>A (p.Leu943=) c.2319C>A (p.Leu773=) c.*2775C>A (n.*2775C>A) c.4173C>A (p.Leu1391=) c.4155C>A (p.Leu1385=) | dbSNP gnomAD v4 |
| 22 | g.50722009C= | CA2411008577 | SHANK3 | c.3777C= (p.Leu1259=) n.4361C= c.2829C= (p.Leu943=) c.2319C= (p.Leu773=) c.*2775C= (n.*2775C=) c.4173C= (p.Leu1391=) c.4155C= (p.Leu1385=) | |
| 22 | g.50722009C>G | CA515264177 | SHANK3 | c.3777C>G (p.Leu1259=) n.4361C>G c.2829C>G (p.Leu943=) c.2319C>G (p.Leu773=) c.*2775C>G (n.*2775C>G) c.4173C>G (p.Leu1391=) c.4155C>G (p.Leu1385=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50722009C>T | CA515264178 | SHANK3 | c.3777C>T (p.Leu1259=) n.4361C>T c.2829C>T (p.Leu943=) c.2319C>T (p.Leu773=) c.*2775C>T (n.*2775C>T) c.4173C>T (p.Leu1391=) c.4155C>T (p.Leu1385=) | dbSNP |
| 22 | g.50722010A= | CA2411008578 | SHANK3 | c.3778A= (p.Thr1260=) n.4362A= c.2830A= (p.Thr944=) c.2320A= (p.Thr774=) c.*2776A= (n.*2776A=) c.4174A= (p.Thr1392=) c.4156A= (p.Thr1386=) | |
| 22 | g.50722010A>C | CA515264179 | SHANK3 | c.3778A>C (p.Thr1260Pro) n.4362A>C c.2830A>C (p.Thr944Pro) c.2320A>C (p.Thr774Pro) c.*2776A>C (n.*2776A>C) c.4174A>C (p.Thr1392Pro) c.4156A>C (p.Thr1386Pro) | |
| 22 | g.50722010A>G | CA515264180 | SHANK3 | c.3778A>G (p.Thr1260Ala) n.4362A>G c.2830A>G (p.Thr944Ala) c.2320A>G (p.Thr774Ala) c.*2776A>G (n.*2776A>G) c.4174A>G (p.Thr1392Ala) c.4156A>G (p.Thr1386Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722010A>T | CA515264181 | SHANK3 | c.3778A>T (p.Thr1260Ser) n.4362A>T c.2830A>T (p.Thr944Ser) c.2320A>T (p.Thr774Ser) c.*2776A>T (n.*2776A>T) c.4174A>T (p.Thr1392Ser) c.4156A>T (p.Thr1386Ser) | |
| 22 | g.50722011C>A | CA515264182 | SHANK3 | c.3779C>A (p.Thr1260Asn) n.4363C>A c.2831C>A (p.Thr944Asn) c.2321C>A (p.Thr774Asn) c.*2777C>A (n.*2777C>A) c.4175C>A (p.Thr1392Asn) c.4157C>A (p.Thr1386Asn) | |
| 22 | g.50722011C>G | CA515264183 | SHANK3 | c.3779C>G (p.Thr1260Ser) n.4363C>G c.2831C>G (p.Thr944Ser) c.2321C>G (p.Thr774Ser) c.*2777C>G (n.*2777C>G) c.4175C>G (p.Thr1392Ser) c.4157C>G (p.Thr1386Ser) | gnomAD v4 |
| 22 | g.50722011C>T | CA515264184 | SHANK3 | c.3779C>T (p.Thr1260Ile) n.4363C>T c.2831C>T (p.Thr944Ile) c.2321C>T (p.Thr774Ile) c.*2777C>T (n.*2777C>T) c.4175C>T (p.Thr1392Ile) c.4157C>T (p.Thr1386Ile) | |
| 22 | g.50722012T>A | CA515264185 | SHANK3 | c.3780T>A (p.Thr1260=) n.4364T>A c.2832T>A (p.Thr944=) c.2322T>A (p.Thr774=) c.*2778T>A (n.*2778T>A) c.4176T>A (p.Thr1392=) c.4158T>A (p.Thr1386=) | gnomAD v4 |
| 22 | g.50722012T>C | CA10326215 | SHANK3 | c.3780T>C (p.Thr1260=) n.4364T>C c.2832T>C (p.Thr944=) c.2322T>C (p.Thr774=) c.*2778T>C (n.*2778T>C) c.4176T>C (p.Thr1392=) c.4158T>C (p.Thr1386=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722012T>G | CA515264186 | SHANK3 | c.3780T>G (p.Thr1260=) n.4364T>G c.2832T>G (p.Thr944=) c.2322T>G (p.Thr774=) c.*2778T>G (n.*2778T>G) c.4176T>G (p.Thr1392=) c.4158T>G (p.Thr1386=) | |
| 22 | g.50722012T= | CA2411008579 | SHANK3 | c.3780T= (p.Thr1260=) n.4364T= c.2832T= (p.Thr944=) c.2322T= (p.Thr774=) c.*2778T= (n.*2778T=) c.4176T= (p.Thr1392=) c.4158T= (p.Thr1386=) | |
| 22 | g.50722013G>A | CA10326216 | SHANK3 | c.3781G>A (p.Asp1261Asn) n.4365G>A c.2833G>A (p.Asp945Asn) c.2323G>A (p.Asp775Asn) c.*2779G>A (n.*2779G>A) c.4177G>A (p.Asp1393Asn) c.4159G>A (p.Asp1387Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722013G>C | CA515264187 | SHANK3 | c.3781G>C (p.Asp1261His) n.4365G>C c.2833G>C (p.Asp945His) c.2323G>C (p.Asp775His) c.*2779G>C (n.*2779G>C) c.4177G>C (p.Asp1393His) c.4159G>C (p.Asp1387His) | |
| 22 | g.50722013G= | CA2411008580 | SHANK3 | c.3781G= (p.Asp1261=) n.4365G= c.2833G= (p.Asp945=) c.2323G= (p.Asp775=) c.*2779G= (n.*2779G=) c.4177G= (p.Asp1393=) c.4159G= (p.Asp1387=) | |
| 22 | g.50722013G>T | CA515264188 | SHANK3 | c.3781G>T (p.Asp1261Tyr) n.4365G>T c.2833G>T (p.Asp945Tyr) c.2323G>T (p.Asp775Tyr) c.*2779G>T (n.*2779G>T) c.4177G>T (p.Asp1393Tyr) c.4159G>T (p.Asp1387Tyr) | |
| 22 | g.50722014A>C | CA515264189 | SHANK3 | c.3782A>C (p.Asp1261Ala) n.4366A>C c.2834A>C (p.Asp945Ala) c.2324A>C (p.Asp775Ala) c.*2780A>C (n.*2780A>C) c.4178A>C (p.Asp1393Ala) c.4160A>C (p.Asp1387Ala) | |
| 22 | g.50722014A>G | CA515264190 | SHANK3 | c.3782A>G (p.Asp1261Gly) n.4366A>G c.2834A>G (p.Asp945Gly) c.2324A>G (p.Asp775Gly) c.*2780A>G (n.*2780A>G) c.4178A>G (p.Asp1393Gly) c.4160A>G (p.Asp1387Gly) | |
| 22 | g.50722014A>T | CA515264191 | SHANK3 | c.3782A>T (p.Asp1261Val) n.4366A>T c.2834A>T (p.Asp945Val) c.2324A>T (p.Asp775Val) c.*2780A>T (n.*2780A>T) c.4178A>T (p.Asp1393Val) c.4160A>T (p.Asp1387Val) | |
| 22 | g.50722015C>A | CA515264192 | SHANK3 | c.3783C>A (p.Asp1261Glu) n.4367C>A c.2835C>A (p.Asp945Glu) c.2325C>A (p.Asp775Glu) c.*2781C>A (n.*2781C>A) c.4179C>A (p.Asp1393Glu) c.4161C>A (p.Asp1387Glu) | |
| 22 | g.50722015C= | CA2411008581 | SHANK3 | c.3783C= (p.Asp1261=) n.4367C= c.2835C= (p.Asp945=) c.2325C= (p.Asp775=) c.*2781C= (n.*2781C=) c.4179C= (p.Asp1393=) c.4161C= (p.Asp1387=) | |
| 22 | g.50722015C>G | CA515264193 | SHANK3 | c.3783C>G (p.Asp1261Glu) n.4367C>G c.2835C>G (p.Asp945Glu) c.2325C>G (p.Asp775Glu) c.*2781C>G (n.*2781C>G) c.4179C>G (p.Asp1393Glu) c.4161C>G (p.Asp1387Glu) | |
| 22 | g.50722015C>T | CA10326217 | SHANK3 | c.3783C>T (p.Asp1261=) n.4367C>T c.2835C>T (p.Asp945=) c.2325C>T (p.Asp775=) c.*2781C>T (n.*2781C>T) c.4179C>T (p.Asp1393=) c.4161C>T (p.Asp1387=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722016A>C | CA515264196 | SHANK3 | c.3784A>C (p.Thr1262Pro) n.4368A>C c.2836A>C (p.Thr946Pro) c.2326A>C (p.Thr776Pro) c.*2782A>C (n.*2782A>C) c.4180A>C (p.Thr1394Pro) c.4162A>C (p.Thr1388Pro) | |
| 22 | g.50722016A>G | CA515264195 | SHANK3 | c.3784A>G (p.Thr1262Ala) n.4368A>G c.2836A>G (p.Thr946Ala) c.2326A>G (p.Thr776Ala) c.*2782A>G (n.*2782A>G) c.4180A>G (p.Thr1394Ala) c.4162A>G (p.Thr1388Ala) | |
| 22 | g.50722016A>T | CA515264194 | SHANK3 | c.3784A>T (p.Thr1262Ser) n.4368A>T c.2836A>T (p.Thr946Ser) c.2326A>T (p.Thr776Ser) c.*2782A>T (n.*2782A>T) c.4180A>T (p.Thr1394Ser) c.4162A>T (p.Thr1388Ser) | |
| 22 | g.50722017C>A | CA515264197 | SHANK3 | c.3785C>A (p.Thr1262Asn) n.4369C>A c.2837C>A (p.Thr946Asn) c.2327C>A (p.Thr776Asn) c.*2783C>A (n.*2783C>A) c.4181C>A (p.Thr1394Asn) c.4163C>A (p.Thr1388Asn) | |
| 22 | g.50722017C>G | CA515264198 | SHANK3 | c.3785C>G (p.Thr1262Ser) n.4369C>G c.2837C>G (p.Thr946Ser) c.2327C>G (p.Thr776Ser) c.*2783C>G (n.*2783C>G) c.4181C>G (p.Thr1394Ser) c.4163C>G (p.Thr1388Ser) | |
| 22 | g.50722017C>T | CA515264199 | SHANK3 | c.3785C>T (p.Thr1262Ile) n.4369C>T c.2837C>T (p.Thr946Ile) c.2327C>T (p.Thr776Ile) c.*2783C>T (n.*2783C>T) c.4181C>T (p.Thr1394Ile) c.4163C>T (p.Thr1388Ile) | |
| 22 | g.50722018C>A | CA515264200 | SHANK3 | c.3786C>A (p.Thr1262=) n.4370C>A c.2838C>A (p.Thr946=) c.2328C>A (p.Thr776=) c.*2784C>A (n.*2784C>A) c.4182C>A (p.Thr1394=) c.4164C>A (p.Thr1388=) | |
| 22 | g.50722018C= | CA2411008582 | SHANK3 | c.3786C= (p.Thr1262=) n.4370C= c.2838C= (p.Thr946=) c.2328C= (p.Thr776=) c.*2784C= (n.*2784C=) c.4182C= (p.Thr1394=) c.4164C= (p.Thr1388=) | |
| 22 | g.50722018C>G | CA515264201 | SHANK3 | c.3786C>G (p.Thr1262=) n.4370C>G c.2838C>G (p.Thr946=) c.2328C>G (p.Thr776=) c.*2784C>G (n.*2784C>G) c.4182C>G (p.Thr1394=) c.4164C>G (p.Thr1388=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722018C>T | CA10326218 | SHANK3 | c.3786C>T (p.Thr1262=) n.4370C>T c.2838C>T (p.Thr946=) c.2328C>T (p.Thr776=) c.*2784C>T (n.*2784C>T) c.4182C>T (p.Thr1394=) c.4164C>T (p.Thr1388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722019C>A | CA515264202 | SHANK3 | c.3787C>A (p.His1263Asn) n.4371C>A c.2839C>A (p.His947Asn) c.2329C>A (p.His777Asn) c.*2785C>A (n.*2785C>A) c.4183C>A (p.His1395Asn) c.4165C>A (p.His1389Asn) | |
| 22 | g.50722019C>G | CA515264203 | SHANK3 | c.3787C>G (p.His1263Asp) n.4371C>G c.2839C>G (p.His947Asp) c.2329C>G (p.His777Asp) c.*2785C>G (n.*2785C>G) c.4183C>G (p.His1395Asp) c.4165C>G (p.His1389Asp) | |
| 22 | g.50722019C>T | CA515264205 | SHANK3 | c.3787C>T (p.His1263Tyr) n.4371C>T c.2839C>T (p.His947Tyr) c.2329C>T (p.His777Tyr) c.*2785C>T (n.*2785C>T) c.4183C>T (p.His1395Tyr) c.4165C>T (p.His1389Tyr) | |
| 22 | g.50722020A= | CA2411008583 | SHANK3 | c.3788A= (p.His1263=) n.4372A= c.2840A= (p.His947=) c.2330A= (p.His777=) c.*2786A= (n.*2786A=) c.4184A= (p.His1395=) c.4166A= (p.His1389=) | |
| 22 | g.50722020A>C | CA515264206 | SHANK3 | c.3788A>C (p.His1263Pro) n.4372A>C c.2840A>C (p.His947Pro) c.2330A>C (p.His777Pro) c.*2786A>C (n.*2786A>C) c.4184A>C (p.His1395Pro) c.4166A>C (p.His1389Pro) | |
| 22 | g.50722020A>G | CA515264207 | SHANK3 | c.3788A>G (p.His1263Arg) n.4372A>G c.2840A>G (p.His947Arg) c.2330A>G (p.His777Arg) c.*2786A>G (n.*2786A>G) c.4184A>G (p.His1395Arg) c.4166A>G (p.His1389Arg) | dbSNP |
| 22 | g.50722020A>T | CA515264208 | SHANK3 | c.3788A>T (p.His1263Leu) n.4372A>T c.2840A>T (p.His947Leu) c.2330A>T (p.His777Leu) c.*2786A>T (n.*2786A>T) c.4184A>T (p.His1395Leu) c.4166A>T (p.His1389Leu) | |
| 22 | g.50722021C>A | CA515264212 | SHANK3 | c.3789C>A (p.His1263Gln) n.4373C>A c.2841C>A (p.His947Gln) c.2331C>A (p.His777Gln) c.*2787C>A (n.*2787C>A) c.4185C>A (p.His1395Gln) c.4167C>A (p.His1389Gln) | |
| 22 | g.50722021C>G | CA515264209 | SHANK3 | c.3789C>G (p.His1263Gln) n.4373C>G c.2841C>G (p.His947Gln) c.2331C>G (p.His777Gln) c.*2787C>G (n.*2787C>G) c.4185C>G (p.His1395Gln) c.4167C>G (p.His1389Gln) | |
| 22 | g.50722021C>T | CA515264211 | SHANK3 | c.3789C>T (p.His1263=) n.4373C>T c.2841C>T (p.His947=) c.2331C>T (p.His777=) c.*2787C>T (n.*2787C>T) c.4185C>T (p.His1395=) c.4167C>T (p.His1389=) | gnomAD v4 |
| 22 | g.50722022A= | CA2411008584 | SHANK3 | c.3790A= (p.Thr1264=) n.4374A= c.2842A= (p.Thr948=) c.2332A= (p.Thr778=) c.*2788A= (n.*2788A=) c.4186A= (p.Thr1396=) c.4168A= (p.Thr1390=) | |
| 22 | g.50722022A>C | CA515264213 | SHANK3 | c.3790A>C (p.Thr1264Pro) n.4374A>C c.2842A>C (p.Thr948Pro) c.2332A>C (p.Thr778Pro) c.*2788A>C (n.*2788A>C) c.4186A>C (p.Thr1396Pro) c.4168A>C (p.Thr1390Pro) | |
| 22 | g.50722022A>G | CA515264214 | SHANK3 | c.3790A>G (p.Thr1264Ala) n.4374A>G c.2842A>G (p.Thr948Ala) c.2332A>G (p.Thr778Ala) c.*2788A>G (n.*2788A>G) c.4186A>G (p.Thr1396Ala) c.4168A>G (p.Thr1390Ala) | dbSNP |
| 22 | g.50722022A>T | CA515264215 | SHANK3 | c.3790A>T (p.Thr1264Ser) n.4374A>T c.2842A>T (p.Thr948Ser) c.2332A>T (p.Thr778Ser) c.*2788A>T (n.*2788A>T) c.4186A>T (p.Thr1396Ser) c.4168A>T (p.Thr1390Ser) | |
| 22 | g.50722023C>A | CA515264216 | SHANK3 | c.3791C>A (p.Thr1264Asn) n.4375C>A c.2843C>A (p.Thr948Asn) c.2333C>A (p.Thr778Asn) c.*2789C>A (n.*2789C>A) c.4187C>A (p.Thr1396Asn) c.4169C>A (p.Thr1390Asn) | gnomAD v4 |
| 22 | g.50722023C= | CA2411008585 | SHANK3 | c.3791C= (p.Thr1264=) n.4375C= c.2843C= (p.Thr948=) c.2333C= (p.Thr778=) c.*2789C= (n.*2789C=) c.4187C= (p.Thr1396=) c.4169C= (p.Thr1390=) | |
| 22 | g.50722023C>G | CA515264217 | SHANK3 | c.3791C>G (p.Thr1264Ser) n.4375C>G c.2843C>G (p.Thr948Ser) c.2333C>G (p.Thr778Ser) c.*2789C>G (n.*2789C>G) c.4187C>G (p.Thr1396Ser) c.4169C>G (p.Thr1390Ser) | |
| 22 | g.50722023C>T | CA515264218 | SHANK3 | c.3791C>T (p.Thr1264Ile) n.4375C>T c.2843C>T (p.Thr948Ile) c.2333C>T (p.Thr778Ile) c.*2789C>T (n.*2789C>T) c.4187C>T (p.Thr1396Ile) c.4169C>T (p.Thr1390Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50722024C>A | CA515264219 | SHANK3 | c.3792C>A (p.Thr1264=) n.4376C>A c.2844C>A (p.Thr948=) c.2334C>A (p.Thr778=) c.*2790C>A (n.*2790C>A) c.4188C>A (p.Thr1396=) c.4170C>A (p.Thr1390=) | |
| 22 | g.50722024C= | CA2411008586 | SHANK3 | c.3792C= (p.Thr1264=) n.4376C= c.2844C= (p.Thr948=) c.2334C= (p.Thr778=) c.*2790C= (n.*2790C=) c.4188C= (p.Thr1396=) c.4170C= (p.Thr1390=) | |
| 22 | g.50722024C>G | CA515264220 | SHANK3 | c.3792C>G (p.Thr1264=) n.4376C>G c.2844C>G (p.Thr948=) c.2334C>G (p.Thr778=) c.*2790C>G (n.*2790C>G) c.4188C>G (p.Thr1396=) c.4170C>G (p.Thr1390=) | |
| 22 | g.50722024C>T | CA10326219 | SHANK3 | c.3792C>T (p.Thr1264=) n.4376C>T c.2844C>T (p.Thr948=) c.2334C>T (p.Thr778=) c.*2790C>T (n.*2790C>T) c.4188C>T (p.Thr1396=) c.4170C>T (p.Thr1390=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722025T>A | CA515264221 | SHANK3 | c.3793T>A (p.Ser1265Thr) n.4377T>A c.2845T>A (p.Ser949Thr) c.2335T>A (p.Ser779Thr) c.*2791T>A (n.*2791T>A) c.4189T>A (p.Ser1397Thr) c.4171T>A (p.Ser1391Thr) | |
| 22 | g.50722025T>C | CA515264222 | SHANK3 | c.3793T>C (p.Ser1265Pro) n.4377T>C c.2845T>C (p.Ser949Pro) c.2335T>C (p.Ser779Pro) c.*2791T>C (n.*2791T>C) c.4189T>C (p.Ser1397Pro) c.4171T>C (p.Ser1391Pro) | |
| 22 | g.50722025T>G | CA515264223 | SHANK3 | c.3793T>G (p.Ser1265Ala) n.4377T>G c.2845T>G (p.Ser949Ala) c.2335T>G (p.Ser779Ala) c.*2791T>G (n.*2791T>G) c.4189T>G (p.Ser1397Ala) c.4171T>G (p.Ser1391Ala) | |
| 22 | g.50722026C>A | CA515264225 | SHANK3 | c.3794C>A (p.Ser1265Tyr) n.4378C>A c.2846C>A (p.Ser949Tyr) c.2336C>A (p.Ser779Tyr) c.*2792C>A (n.*2792C>A) c.4190C>A (p.Ser1397Tyr) c.4172C>A (p.Ser1391Tyr) | |
| 22 | g.50722026C>G | CA515264226 | SHANK3 | c.3794C>G (p.Ser1265Cys) n.4378C>G c.2846C>G (p.Ser949Cys) c.2336C>G (p.Ser779Cys) c.*2792C>G (n.*2792C>G) c.4190C>G (p.Ser1397Cys) c.4172C>G (p.Ser1391Cys) | |
| 22 | g.50722026C>T | CA515264224 | SHANK3 | c.3794C>T (p.Ser1265Phe) n.4378C>T c.2846C>T (p.Ser949Phe) c.2336C>T (p.Ser779Phe) c.*2792C>T (n.*2792C>T) c.4190C>T (p.Ser1397Phe) c.4172C>T (p.Ser1391Phe) | |
| 22 | g.50722027C>A | CA515264228 | SHANK3 | c.3795C>A (p.Ser1265=) n.4379C>A c.2847C>A (p.Ser949=) c.2337C>A (p.Ser779=) c.*2793C>A (n.*2793C>A) c.4191C>A (p.Ser1397=) c.4173C>A (p.Ser1391=) | |
| 22 | g.50722027C>G | CA515264227 | SHANK3 | c.3795C>G (p.Ser1265=) n.4379C>G c.2847C>G (p.Ser949=) c.2337C>G (p.Ser779=) c.*2793C>G (n.*2793C>G) c.4191C>G (p.Ser1397=) c.4173C>G (p.Ser1391=) | gnomAD v4 |
| 22 | g.50722027C>T | CA515264229 | SHANK3 | c.3795C>T (p.Ser1265=) n.4379C>T c.2847C>T (p.Ser949=) c.2337C>T (p.Ser779=) c.*2793C>T (n.*2793C>T) c.4191C>T (p.Ser1397=) c.4173C>T (p.Ser1391=) | |
| 22 | g.50722028T>A | CA515264230 | SHANK3 | c.3796T>A (p.Phe1266Ile) n.4380T>A c.2848T>A (p.Phe950Ile) c.2338T>A (p.Phe780Ile) c.*2794T>A (n.*2794T>A) c.4192T>A (p.Phe1398Ile) c.4174T>A (p.Phe1392Ile) | |
| 22 | g.50722028T>C | CA515264231 | SHANK3 | c.3796T>C (p.Phe1266Leu) n.4380T>C c.2848T>C (p.Phe950Leu) c.2338T>C (p.Phe780Leu) c.*2794T>C (n.*2794T>C) c.4192T>C (p.Phe1398Leu) c.4174T>C (p.Phe1392Leu) | |
| 22 | g.50722028T>G | CA515264232 | SHANK3 | c.3796T>G (p.Phe1266Val) n.4380T>G c.2848T>G (p.Phe950Val) c.2338T>G (p.Phe780Val) c.*2794T>G (n.*2794T>G) c.4192T>G (p.Phe1398Val) c.4174T>G (p.Phe1392Val) | |
| 22 | g.50722029T>A | CA515264233 | SHANK3 | c.3797T>A (p.Phe1266Tyr) n.4381T>A c.2849T>A (p.Phe950Tyr) c.2339T>A (p.Phe780Tyr) c.*2795T>A (n.*2795T>A) c.4193T>A (p.Phe1398Tyr) c.4175T>A (p.Phe1392Tyr) | |
| 22 | g.50722029T>C | CA515264234 | SHANK3 | c.3797T>C (p.Phe1266Ser) n.4381T>C c.2849T>C (p.Phe950Ser) c.2339T>C (p.Phe780Ser) c.*2795T>C (n.*2795T>C) c.4193T>C (p.Phe1398Ser) c.4175T>C (p.Phe1392Ser) | |
| 22 | g.50722029T>G | CA515264235 | SHANK3 | c.3797T>G (p.Phe1266Cys) n.4381T>G c.2849T>G (p.Phe950Cys) c.2339T>G (p.Phe780Cys) c.*2795T>G (n.*2795T>G) c.4193T>G (p.Phe1398Cys) c.4175T>G (p.Phe1392Cys) | |
| 22 | g.50722030C>A | CA515264236 | SHANK3 | c.3798C>A (p.Phe1266Leu) n.4382C>A c.2850C>A (p.Phe950Leu) c.2340C>A (p.Phe780Leu) c.*2796C>A (n.*2796C>A) c.4194C>A (p.Phe1398Leu) c.4176C>A (p.Phe1392Leu) | gnomAD v4 |
| 22 | g.50722030C= | CA2411008587 | SHANK3 | c.3798C= (p.Phe1266=) n.4382C= c.2850C= (p.Phe950=) c.2340C= (p.Phe780=) c.*2796C= (n.*2796C=) c.4194C= (p.Phe1398=) c.4176C= (p.Phe1392=) | |
| 22 | g.50722030C>G | CA515264237 | SHANK3 | c.3798C>G (p.Phe1266Leu) n.4382C>G c.2850C>G (p.Phe950Leu) c.2340C>G (p.Phe780Leu) c.*2796C>G (n.*2796C>G) c.4194C>G (p.Phe1398Leu) c.4176C>G (p.Phe1392Leu) | |
| 22 | g.50722030C>T | CA10326220 | SHANK3 | c.3798C>T (p.Phe1266=) n.4382C>T c.2850C>T (p.Phe950=) c.2340C>T (p.Phe780=) c.*2796C>T (n.*2796C>T) c.4194C>T (p.Phe1398=) c.4176C>T (p.Phe1392=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722031G>A | CA325579927 | SHANK3 | c.3799G>A (p.Ala1267Thr) n.4383G>A c.2851G>A (p.Ala951Thr) c.2341G>A (p.Ala781Thr) c.*2797G>A (n.*2797G>A) c.4195G>A (p.Ala1399Thr) c.4177G>A (p.Ala1393Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722031G>C | CA515264238 | SHANK3 | c.3799G>C (p.Ala1267Pro) n.4383G>C c.2851G>C (p.Ala951Pro) c.2341G>C (p.Ala781Pro) c.*2797G>C (n.*2797G>C) c.4195G>C (p.Ala1399Pro) c.4177G>C (p.Ala1393Pro) | |
| 22 | g.50722031G= | CA2411008588 | SHANK3 | c.3799G= (p.Ala1267=) n.4383G= c.2851G= (p.Ala951=) c.2341G= (p.Ala781=) c.*2797G= (n.*2797G=) c.4195G= (p.Ala1399=) c.4177G= (p.Ala1393=) | |
| 22 | g.50722031G>T | CA515264239 | SHANK3 | c.3799G>T (p.Ala1267Ser) n.4383G>T c.2851G>T (p.Ala951Ser) c.2341G>T (p.Ala781Ser) c.*2797G>T (n.*2797G>T) c.4195G>T (p.Ala1399Ser) c.4177G>T (p.Ala1393Ser) | |
| 22 | g.50722032C>A | CA515264242 | SHANK3 | c.3800C>A (p.Ala1267Asp) n.4384C>A c.2852C>A (p.Ala951Asp) c.2342C>A (p.Ala781Asp) c.*2798C>A (n.*2798C>A) c.4196C>A (p.Ala1399Asp) c.4178C>A (p.Ala1393Asp) | |
| 22 | g.50722032C>G | CA515264241 | SHANK3 | c.3800C>G (p.Ala1267Gly) n.4384C>G c.2852C>G (p.Ala951Gly) c.2342C>G (p.Ala781Gly) c.*2798C>G (n.*2798C>G) c.4196C>G (p.Ala1399Gly) c.4178C>G (p.Ala1393Gly) | |
| 22 | g.50722032C>T | CA515264240 | SHANK3 | c.3800C>T (p.Ala1267Val) n.4384C>T c.2852C>T (p.Ala951Val) c.2342C>T (p.Ala781Val) c.*2798C>T (n.*2798C>T) c.4196C>T (p.Ala1399Val) c.4178C>T (p.Ala1393Val) | |
| 22 | g.50722033T>A | CA515264243 | SHANK3 | c.3801T>A (p.Ala1267=) n.4385T>A c.2853T>A (p.Ala951=) c.2343T>A (p.Ala781=) c.*2799T>A (n.*2799T>A) c.4197T>A (p.Ala1399=) c.4179T>A (p.Ala1393=) | |
| 22 | g.50722033T>C | CA515264244 | SHANK3 | c.3801T>C (p.Ala1267=) n.4385T>C c.2853T>C (p.Ala951=) c.2343T>C (p.Ala781=) c.*2799T>C (n.*2799T>C) c.4197T>C (p.Ala1399=) c.4179T>C (p.Ala1393=) | |
| 22 | g.50722033T>G | CA515264245 | SHANK3 | c.3801T>G (p.Ala1267=) n.4385T>G c.2853T>G (p.Ala951=) c.2343T>G (p.Ala781=) c.*2799T>G (n.*2799T>G) c.4197T>G (p.Ala1399=) c.4179T>G (p.Ala1393=) | |
| 22 | g.50722034G>A | CA515264246 | SHANK3 | c.3802G>A (p.Asp1268Asn) n.4386G>A c.2854G>A (p.Asp952Asn) c.2344G>A (p.Asp782Asn) c.*2800G>A (n.*2800G>A) c.4198G>A (p.Asp1400Asn) c.4180G>A (p.Asp1394Asn) | |
| 22 | g.50722034G>C | CA515264247 | SHANK3 | c.3802G>C (p.Asp1268His) n.4386G>C c.2854G>C (p.Asp952His) c.2344G>C (p.Asp782His) c.*2800G>C (n.*2800G>C) c.4198G>C (p.Asp1400His) c.4180G>C (p.Asp1394His) | |
| 22 | g.50722034G>T | CA515264248 | SHANK3 | c.3802G>T (p.Asp1268Tyr) n.4386G>T c.2854G>T (p.Asp952Tyr) c.2344G>T (p.Asp782Tyr) c.*2800G>T (n.*2800G>T) c.4198G>T (p.Asp1400Tyr) c.4180G>T (p.Asp1394Tyr) | |
| 22 | g.50722035A>C | CA515264249 | SHANK3 | c.3803A>C (p.Asp1268Ala) n.4387A>C c.2855A>C (p.Asp952Ala) c.2345A>C (p.Asp782Ala) c.*2801A>C (n.*2801A>C) c.4199A>C (p.Asp1400Ala) c.4181A>C (p.Asp1394Ala) | |
| 22 | g.50722035A>G | CA515264250 | SHANK3 | c.3803A>G (p.Asp1268Gly) n.4387A>G c.2855A>G (p.Asp952Gly) c.2345A>G (p.Asp782Gly) c.*2801A>G (n.*2801A>G) c.4199A>G (p.Asp1400Gly) c.4181A>G (p.Asp1394Gly) | |
| 22 | g.50722035A>T | CA515264251 | SHANK3 | c.3803A>T (p.Asp1268Val) n.4387A>T c.2855A>T (p.Asp952Val) c.2345A>T (p.Asp782Val) c.*2801A>T (n.*2801A>T) c.4199A>T (p.Asp1400Val) c.4181A>T (p.Asp1394Val) | |
| 22 | g.50722036C>A | CA515264252 | SHANK3 | c.3804C>A (p.Asp1268Glu) n.4388C>A c.2856C>A (p.Asp952Glu) c.2346C>A (p.Asp782Glu) c.*2802C>A (n.*2802C>A) c.4200C>A (p.Asp1400Glu) c.4182C>A (p.Asp1394Glu) | |
| 22 | g.50722036C= | CA2411008589 | SHANK3 | c.3804C= (p.Asp1268=) n.4388C= c.2856C= (p.Asp952=) c.2346C= (p.Asp782=) c.*2802C= (n.*2802C=) c.4200C= (p.Asp1400=) c.4182C= (p.Asp1394=) | |
| 22 | g.50722036C>G | CA515264253 | SHANK3 | c.3804C>G (p.Asp1268Glu) n.4388C>G c.2856C>G (p.Asp952Glu) c.2346C>G (p.Asp782Glu) c.*2802C>G (n.*2802C>G) c.4200C>G (p.Asp1400Glu) c.4182C>G (p.Asp1394Glu) | |
| 22 | g.50722036C>T | CA10326221 | SHANK3 | c.3804C>T (p.Asp1268=) n.4388C>T c.2856C>T (p.Asp952=) c.2346C>T (p.Asp782=) c.*2802C>T (n.*2802C>T) c.4200C>T (p.Asp1400=) c.4182C>T (p.Asp1394=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722037G>A | CA10326222 | SHANK3 | c.3805G>A (p.Gly1269Arg) n.4389G>A c.2857G>A (p.Gly953Arg) c.2347G>A (p.Gly783Arg) c.*2803G>A (n.*2803G>A) c.4201G>A (p.Gly1401Arg) c.4183G>A (p.Gly1395Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50722037G>C | CA515264255 | SHANK3 | c.3805G>C (p.Gly1269Arg) n.4389G>C c.2857G>C (p.Gly953Arg) c.2347G>C (p.Gly783Arg) c.*2803G>C (n.*2803G>C) c.4201G>C (p.Gly1401Arg) c.4183G>C (p.Gly1395Arg) | |
| 22 | g.50722037G= | CA2411008590 | SHANK3 | c.3805G= (p.Gly1269=) n.4389G= c.2857G= (p.Gly953=) c.2347G= (p.Gly783=) c.*2803G= (n.*2803G=) c.4201G= (p.Gly1401=) c.4183G= (p.Gly1395=) | |
| 22 | g.50722037G>T | CA515264254 | SHANK3 | c.3805G>T (p.Gly1269Ter) n.4389G>T c.2857G>T (p.Gly953Ter) c.2347G>T (p.Gly783Ter) c.*2803G>T (n.*2803G>T) c.4201G>T (p.Gly1401Ter) c.4183G>T (p.Gly1395Ter) | |
| 22 | g.50722038G>A | CA515264256 | SHANK3 | c.3806G>A (p.Gly1269Glu) n.4390G>A c.2858G>A (p.Gly953Glu) c.2348G>A (p.Gly783Glu) c.*2804G>A (n.*2804G>A) c.4202G>A (p.Gly1401Glu) c.4184G>A (p.Gly1395Glu) | |
| 22 | g.50722038G>C | CA515264257 | SHANK3 | c.3806G>C (p.Gly1269Ala) n.4390G>C c.2858G>C (p.Gly953Ala) c.2348G>C (p.Gly783Ala) c.*2804G>C (n.*2804G>C) c.4202G>C (p.Gly1401Ala) c.4184G>C (p.Gly1395Ala) | |
| 22 | g.50722038G>T | CA515264258 | SHANK3 | c.3806G>T (p.Gly1269Val) n.4390G>T c.2858G>T (p.Gly953Val) c.2348G>T (p.Gly783Val) c.*2804G>T (n.*2804G>T) c.4202G>T (p.Gly1401Val) c.4184G>T (p.Gly1395Val) | |
| 22 | g.50722039A>C | CA515264259 | SHANK3 | c.3807A>C (p.Gly1269=) n.4391A>C c.2859A>C (p.Gly953=) c.2349A>C (p.Gly783=) c.*2805A>C (n.*2805A>C) c.4203A>C (p.Gly1401=) c.4185A>C (p.Gly1395=) | |
| 22 | g.50722039A>G | CA515264260 | SHANK3 | c.3807A>G (p.Gly1269=) n.4391A>G c.2859A>G (p.Gly953=) c.2349A>G (p.Gly783=) c.*2805A>G (n.*2805A>G) c.4203A>G (p.Gly1401=) c.4185A>G (p.Gly1395=) | gnomAD v4 |
| 22 | g.50722039A>T | CA515264261 | SHANK3 | c.3807A>T (p.Gly1269=) n.4391A>T c.2859A>T (p.Gly953=) c.2349A>T (p.Gly783=) c.*2805A>T (n.*2805A>T) c.4203A>T (p.Gly1401=) c.4185A>T (p.Gly1395=) | |
| 22 | g.50722040C>A | CA515264262 | SHANK3 | c.3808C>A (p.His1270Asn) n.4392C>A c.2860C>A (p.His954Asn) c.2350C>A (p.His784Asn) c.*2806C>A (n.*2806C>A) c.4204C>A (p.His1402Asn) c.4186C>A (p.His1396Asn) | |
| 22 | g.50722040C>G | CA515264263 | SHANK3 | c.3808C>G (p.His1270Asp) n.4392C>G c.2860C>G (p.His954Asp) c.2350C>G (p.His784Asp) c.*2806C>G (n.*2806C>G) c.4204C>G (p.His1402Asp) c.4186C>G (p.His1396Asp) | |
| 22 | g.50722040C>T | CA515264264 | SHANK3 | c.3808C>T (p.His1270Tyr) n.4392C>T c.2860C>T (p.His954Tyr) c.2350C>T (p.His784Tyr) c.*2806C>T (n.*2806C>T) c.4204C>T (p.His1402Tyr) c.4186C>T (p.His1396Tyr) | dbSNP |
| 22 | g.50722041A>C | CA515264265 | SHANK3 | c.3809A>C (p.His1270Pro) n.4393A>C c.2861A>C (p.His954Pro) c.2351A>C (p.His784Pro) c.*2807A>C (n.*2807A>C) c.4205A>C (p.His1402Pro) c.4187A>C (p.His1396Pro) | |
| 22 | g.50722041A>G | CA515264266 | SHANK3 | c.3809A>G (p.His1270Arg) n.4393A>G c.2861A>G (p.His954Arg) c.2351A>G (p.His784Arg) c.*2807A>G (n.*2807A>G) c.4205A>G (p.His1402Arg) c.4187A>G (p.His1396Arg) | |
| 22 | g.50722041A>T | CA515264267 | SHANK3 | c.3809A>T (p.His1270Leu) n.4393A>T c.2861A>T (p.His954Leu) c.2351A>T (p.His784Leu) c.*2807A>T (n.*2807A>T) c.4205A>T (p.His1402Leu) c.4187A>T (p.His1396Leu) | |
| 22 | g.50722042C>A | CA515264269 | SHANK3 | c.3810C>A (p.His1270Gln) n.4394C>A c.2862C>A (p.His954Gln) c.2352C>A (p.His784Gln) c.*2808C>A (n.*2808C>A) c.4206C>A (p.His1402Gln) c.4188C>A (p.His1396Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722042C= | CA2411008591 | SHANK3 | c.3810C= (p.His1270=) n.4394C= c.2862C= (p.His954=) c.2352C= (p.His784=) c.*2808C= (n.*2808C=) c.4206C= (p.His1402=) c.4188C= (p.His1396=) | |
| 22 | g.50722042C>G | CA515264268 | SHANK3 | c.3810C>G (p.His1270Gln) n.4394C>G c.2862C>G (p.His954Gln) c.2352C>G (p.His784Gln) c.*2808C>G (n.*2808C>G) c.4206C>G (p.His1402Gln) c.4188C>G (p.His1396Gln) | |
| 22 | g.50722042C>T | CA10326223 | SHANK3 | c.3810C>T (p.His1270=) n.4394C>T c.2862C>T (p.His954=) c.2352C>T (p.His784=) c.*2808C>T (n.*2808C>T) c.4206C>T (p.His1402=) c.4188C>T (p.His1396=) | dbSNP ExAC gnomAD v2 |
| 22 | g.50722043A= | CA2411008592 | SHANK3 | c.3811A= (p.Thr1271=) n.4395A= c.2863A= (p.Thr955=) c.2353A= (p.Thr785=) c.*2809A= (n.*2809A=) c.4207A= (p.Thr1403=) c.4189A= (p.Thr1397=) | |
| 22 | g.50722043A>C | CA515264270 | SHANK3 | c.3811A>C (p.Thr1271Pro) n.4395A>C c.2863A>C (p.Thr955Pro) c.2353A>C (p.Thr785Pro) c.*2809A>C (n.*2809A>C) c.4207A>C (p.Thr1403Pro) c.4189A>C (p.Thr1397Pro) | |
| 22 | g.50722043A>G | CA10326224 | SHANK3 | c.3811A>G (p.Thr1271Ala) n.4395A>G c.2863A>G (p.Thr955Ala) c.2353A>G (p.Thr785Ala) c.*2809A>G (n.*2809A>G) c.4207A>G (p.Thr1403Ala) c.4189A>G (p.Thr1397Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50722043A>T | CA515264271 | SHANK3 | c.3811A>T (p.Thr1271Ser) n.4395A>T c.2863A>T (p.Thr955Ser) c.2353A>T (p.Thr785Ser) c.*2809A>T (n.*2809A>T) c.4207A>T (p.Thr1403Ser) c.4189A>T (p.Thr1397Ser) | |
| 22 | g.50722044C>A | CA515264272 | SHANK3 | c.3812C>A (p.Thr1271Asn) n.4396C>A c.2864C>A (p.Thr955Asn) c.2354C>A (p.Thr785Asn) c.*2810C>A (n.*2810C>A) c.4208C>A (p.Thr1403Asn) c.4190C>A (p.Thr1397Asn) | |
| 22 | g.50722044C= | CA2411008593 | SHANK3 | c.3812C= (p.Thr1271=) n.4396C= c.2864C= (p.Thr955=) c.2354C= (p.Thr785=) c.*2810C= (n.*2810C=) c.4208C= (p.Thr1403=) c.4190C= (p.Thr1397=) | |
| 22 | g.50722044C>G | CA515264273 | SHANK3 | c.3812C>G (p.Thr1271Ser) n.4396C>G c.2864C>G (p.Thr955Ser) c.2354C>G (p.Thr785Ser) c.*2810C>G (n.*2810C>G) c.4208C>G (p.Thr1403Ser) c.4190C>G (p.Thr1397Ser) | |
| 22 | g.50722044C>T | CA10326225 | SHANK3 | c.3812C>T (p.Thr1271Ile) n.4396C>T c.2864C>T (p.Thr955Ile) c.2354C>T (p.Thr785Ile) c.*2810C>T (n.*2810C>T) c.4208C>T (p.Thr1403Ile) c.4190C>T (p.Thr1397Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50722045T>A | CA515264274 | SHANK3 | c.3813T>A (p.Thr1271=) n.4397T>A c.2865T>A (p.Thr955=) c.2355T>A (p.Thr785=) c.*2811T>A (n.*2811T>A) c.4209T>A (p.Thr1403=) c.4191T>A (p.Thr1397=) | |
| 22 | g.50722045T>C | CA515264275 | SHANK3 | c.3813T>C (p.Thr1271=) n.4397T>C c.2865T>C (p.Thr955=) c.2355T>C (p.Thr785=) c.*2811T>C (n.*2811T>C) c.4209T>C (p.Thr1403=) c.4191T>C (p.Thr1397=) | |
| 22 | g.50722045T>G | CA515264276 | SHANK3 | c.3813T>G (p.Thr1271=) n.4397T>G c.2865T>G (p.Thr955=) c.2355T>G (p.Thr785=) c.*2811T>G (n.*2811T>G) c.4209T>G (p.Thr1403=) c.4191T>G (p.Thr1397=) | |
| 22 | g.50722046T>A | CA515264277 | SHANK3 | c.3814T>A (p.Phe1272Ile) n.4398T>A c.2866T>A (p.Phe956Ile) c.2356T>A (p.Phe786Ile) c.*2812T>A (n.*2812T>A) c.4210T>A (p.Phe1404Ile) c.4192T>A (p.Phe1398Ile) | |
| 22 | g.50722046T>C | CA515264278 | SHANK3 | c.3814T>C (p.Phe1272Leu) n.4398T>C c.2866T>C (p.Phe956Leu) c.2356T>C (p.Phe786Leu) c.*2812T>C (n.*2812T>C) c.4210T>C (p.Phe1404Leu) c.4192T>C (p.Phe1398Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50722046T>G | CA515264279 | SHANK3 | c.3814T>G (p.Phe1272Val) n.4398T>G c.2866T>G (p.Phe956Val) c.2356T>G (p.Phe786Val) c.*2812T>G (n.*2812T>G) c.4210T>G (p.Phe1404Val) c.4192T>G (p.Phe1398Val) | |
| 22 | g.50722046T= | CA2411008594 | SHANK3 | c.3814T= (p.Phe1272=) n.4398T= c.2866T= (p.Phe956=) c.2356T= (p.Phe786=) c.*2812T= (n.*2812T=) c.4210T= (p.Phe1404=) c.4192T= (p.Phe1398=) |