| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721941_50721943delinsCTG | CA2411008546 | SHANK3 | c.3709_3711delinsCTG (p.Leu1237=) n.4293_4295delinsCTG c.2761_2763delinsCTG (p.Leu921=) c.2251_2253delinsCTG (p.Leu751=) c.*2707_*2709delinsCTG (n.*2707_*2709delinsCTG) c.4105_4107delinsCTG (p.Leu1369=) c.4087_4089delinsCTG (p.Leu1363=) | |
| 22 | g.50721942T>A | CA515263986 | SHANK3 | c.3710T>A (p.Leu1237Gln) n.4294T>A c.2762T>A (p.Leu921Gln) c.2252T>A (p.Leu751Gln) c.*2708T>A (n.*2708T>A) c.4106T>A (p.Leu1369Gln) c.4088T>A (p.Leu1363Gln) | |
| 22 | g.50721942T>C | CA515263985 | SHANK3 | c.3710T>C (p.Leu1237Pro) n.4294T>C c.2762T>C (p.Leu921Pro) c.2252T>C (p.Leu751Pro) c.*2708T>C (n.*2708T>C) c.4106T>C (p.Leu1369Pro) c.4088T>C (p.Leu1363Pro) | gnomAD v4 |
| 22 | g.50721942T>G | CA515263987 | SHANK3 | c.3710T>G (p.Leu1237Arg) n.4294T>G c.2762T>G (p.Leu921Arg) c.2252T>G (p.Leu751Arg) c.*2708T>G (n.*2708T>G) c.4106T>G (p.Leu1369Arg) c.4088T>G (p.Leu1363Arg) | |
| 22 | g.50721942_50721943del | CA16621141 | SHANK3 | c.3710_3711del (p.Leu1237ArgfsTer24) n.4294_4295del c.2762_2763del (p.Leu921ArgfsTer24) c.2252_2253del (p.Leu751ArgfsTer24) c.*2708_*2709del (n.*2708_*2709del) c.4106_4107del (p.Leu1369ArgfsTer24) c.4088_4089del (p.Leu1363ArgfsTer24) | ClinVar dbSNP |
| 22 | g.50721943G>A | CA515263988 | SHANK3 | c.3711G>A (p.Leu1237=) n.4295G>A c.2763G>A (p.Leu921=) c.2253G>A (p.Leu751=) c.*2709G>A (n.*2709G>A) c.4107G>A (p.Leu1369=) c.4089G>A (p.Leu1363=) | gnomAD v4 |
| 22 | g.50721943G>C | CA515263989 | SHANK3 | c.3711G>C (p.Leu1237=) n.4295G>C c.2763G>C (p.Leu921=) c.2253G>C (p.Leu751=) c.*2709G>C (n.*2709G>C) c.4107G>C (p.Leu1369=) c.4089G>C (p.Leu1363=) | |
| 22 | g.50721943G>T | CA515263990 | SHANK3 | c.3711G>T (p.Leu1237=) n.4295G>T c.2763G>T (p.Leu921=) c.2253G>T (p.Leu751=) c.*2709G>T (n.*2709G>T) c.4107G>T (p.Leu1369=) c.4089G>T (p.Leu1363=) | |
| 22 | g.50721944G>A | CA515263992 | SHANK3 | c.3712G>A (p.Glu1238Lys) n.4296G>A c.2764G>A (p.Glu922Lys) c.2254G>A (p.Glu752Lys) c.*2710G>A (n.*2710G>A) c.4108G>A (p.Glu1370Lys) c.4090G>A (p.Glu1364Lys) | |
| 22 | g.50721944G>C | CA515263993 | SHANK3 | c.3712G>C (p.Glu1238Gln) n.4296G>C c.2764G>C (p.Glu922Gln) c.2254G>C (p.Glu752Gln) c.*2710G>C (n.*2710G>C) c.4108G>C (p.Glu1370Gln) c.4090G>C (p.Glu1364Gln) | |
| 22 | g.50721944G>T | CA515263994 | SHANK3 | c.3712G>T (p.Glu1238Ter) n.4296G>T c.2764G>T (p.Glu922Ter) c.2254G>T (p.Glu752Ter) c.*2710G>T (n.*2710G>T) c.4108G>T (p.Glu1370Ter) c.4090G>T (p.Glu1364Ter) | |
| 22 | g.50721945A>C | CA515263995 | SHANK3 | c.3713A>C (p.Glu1238Ala) n.4297A>C c.2765A>C (p.Glu922Ala) c.2255A>C (p.Glu752Ala) c.*2711A>C (n.*2711A>C) c.4109A>C (p.Glu1370Ala) c.4091A>C (p.Glu1364Ala) | |
| 22 | g.50721945A>G | CA515263996 | SHANK3 | c.3713A>G (p.Glu1238Gly) n.4297A>G c.2765A>G (p.Glu922Gly) c.2255A>G (p.Glu752Gly) c.*2711A>G (n.*2711A>G) c.4109A>G (p.Glu1370Gly) c.4091A>G (p.Glu1364Gly) | gnomAD v4 |
| 22 | g.50721945A>T | CA515263997 | SHANK3 | c.3713A>T (p.Glu1238Val) n.4297A>T c.2765A>T (p.Glu922Val) c.2255A>T (p.Glu752Val) c.*2711A>T (n.*2711A>T) c.4109A>T (p.Glu1370Val) c.4091A>T (p.Glu1364Val) | |
| 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=) |