Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33443096T>A | CA450103709 | SYNGAP1,SYNGAP1-AS1 | c.2286T>A (p.Gly762=) c.2544T>A (p.Gly848=) c.2502T>A (p.Gly834=) c.2367T>A (p.Gly789=) c.2499T>A (p.Gly833=) n.329+3510A>T | |
6 | g.33443096T>C | CA450103711 | SYNGAP1,SYNGAP1-AS1 | c.2286T>C (p.Gly762=) c.2544T>C (p.Gly848=) c.2502T>C (p.Gly834=) c.2367T>C (p.Gly789=) c.2499T>C (p.Gly833=) n.329+3510A>G | |
6 | g.33443096T>G | CA450103710 | SYNGAP1,SYNGAP1-AS1 | c.2286T>G (p.Gly762=) c.2544T>G (p.Gly848=) c.2502T>G (p.Gly834=) c.2367T>G (p.Gly789=) c.2499T>G (p.Gly833=) n.329+3510A>C | |
6 | g.33443097G>A | CA363625784 | SYNGAP1,SYNGAP1-AS1 | c.2287G>A (p.Asp763Asn) c.2545G>A (p.Asp849Asn) c.2503G>A (p.Asp835Asn) c.2368G>A (p.Asp790Asn) c.2500G>A (p.Asp834Asn) n.329+3509C>T | |
6 | g.33443097G>C | CA363625788 | SYNGAP1,SYNGAP1-AS1 | c.2287G>C (p.Asp763His) c.2545G>C (p.Asp849His) c.2503G>C (p.Asp835His) c.2368G>C (p.Asp790His) c.2500G>C (p.Asp834His) n.329+3509C>G | |
6 | g.33443097G>T | CA363625786 | SYNGAP1,SYNGAP1-AS1 | c.2287G>T (p.Asp763Tyr) c.2545G>T (p.Asp849Tyr) c.2503G>T (p.Asp835Tyr) c.2368G>T (p.Asp790Tyr) c.2500G>T (p.Asp834Tyr) n.329+3509C>A | |
6 | g.33443098A>C | CA363625790 | SYNGAP1,SYNGAP1-AS1 | c.2288A>C (p.Asp763Ala) c.2546A>C (p.Asp849Ala) c.2504A>C (p.Asp835Ala) c.2369A>C (p.Asp790Ala) c.2501A>C (p.Asp834Ala) n.329+3508T>G | |
6 | g.33443098A>G | CA363625796 | SYNGAP1,SYNGAP1-AS1 | c.2288A>G (p.Asp763Gly) c.2546A>G (p.Asp849Gly) c.2504A>G (p.Asp835Gly) c.2369A>G (p.Asp790Gly) c.2501A>G (p.Asp834Gly) n.329+3508T>C | |
6 | g.33443098A>T | CA363625793 | SYNGAP1,SYNGAP1-AS1 | c.2288A>T (p.Asp763Val) c.2546A>T (p.Asp849Val) c.2504A>T (p.Asp835Val) c.2369A>T (p.Asp790Val) c.2501A>T (p.Asp834Val) n.329+3508T>A | |
6 | g.33443099T>A | CA363625799 | SYNGAP1,SYNGAP1-AS1 | c.2289T>A (p.Asp763Glu) c.2547T>A (p.Asp849Glu) c.2505T>A (p.Asp835Glu) c.2370T>A (p.Asp790Glu) c.2502T>A (p.Asp834Glu) n.329+3507A>T | |
6 | g.33443099T>C | CA450103712 | SYNGAP1,SYNGAP1-AS1 | c.2289T>C (p.Asp763=) c.2547T>C (p.Asp849=) c.2505T>C (p.Asp835=) c.2370T>C (p.Asp790=) c.2502T>C (p.Asp834=) n.329+3507A>G | |
6 | g.33443099T>G | CA363625800 | SYNGAP1,SYNGAP1-AS1 | c.2289T>G (p.Asp763Glu) c.2547T>G (p.Asp849Glu) c.2505T>G (p.Asp835Glu) c.2370T>G (p.Asp790Glu) c.2502T>G (p.Asp834Glu) n.329+3507A>C | |
6 | g.33443100G>A | CA363625803 | SYNGAP1,SYNGAP1-AS1 | c.2290G>A (p.Gly764Arg) c.2548G>A (p.Gly850Arg) c.2506G>A (p.Gly836Arg) c.2371G>A (p.Gly791Arg) c.2503G>A (p.Gly835Arg) n.329+3506C>T | ClinVar |
6 | g.33443100G>C | CA363625806 | SYNGAP1,SYNGAP1-AS1 | c.2290G>C (p.Gly764Arg) c.2548G>C (p.Gly850Arg) c.2506G>C (p.Gly836Arg) c.2371G>C (p.Gly791Arg) c.2503G>C (p.Gly835Arg) n.329+3506C>G | |
6 | g.33443100G>T | CA363625809 | SYNGAP1,SYNGAP1-AS1 | c.2290G>T (p.Gly764Trp) c.2548G>T (p.Gly850Trp) c.2506G>T (p.Gly836Trp) c.2371G>T (p.Gly791Trp) c.2503G>T (p.Gly835Trp) n.329+3506C>A | |
6 | g.33443102del | CA2739272901 | SYNGAP1,SYNGAP1-AS1 | c.2292del (p.Pro765LeufsTer16) c.2550del (p.Pro851LeufsTer16) c.2508del (p.Pro837LeufsTer16) c.2373del (p.Pro792LeufsTer16) c.2505del (p.Pro836LeufsTer16) n.329+3506del | ClinVar |
6 | g.33443101G>A | CA363625812 | SYNGAP1,SYNGAP1-AS1 | c.2291G>A (p.Gly764Glu) c.2549G>A (p.Gly850Glu) c.2507G>A (p.Gly836Glu) c.2372G>A (p.Gly791Glu) c.2504G>A (p.Gly835Glu) n.329+3505C>T | |
6 | g.33443101G>C | CA363625815 | SYNGAP1,SYNGAP1-AS1 | c.2291G>C (p.Gly764Ala) c.2549G>C (p.Gly850Ala) c.2507G>C (p.Gly836Ala) c.2372G>C (p.Gly791Ala) c.2504G>C (p.Gly835Ala) n.329+3505C>G | |
6 | g.33443101G>T | CA363625817 | SYNGAP1,SYNGAP1-AS1 | c.2291G>T (p.Gly764Val) c.2549G>T (p.Gly850Val) c.2507G>T (p.Gly836Val) c.2372G>T (p.Gly791Val) c.2504G>T (p.Gly835Val) n.329+3505C>A | |
6 | g.33443102G>A | CA450103713 | SYNGAP1,SYNGAP1-AS1 | c.2292G>A (p.Gly764=) c.2550G>A (p.Gly850=) c.2508G>A (p.Gly836=) c.2373G>A (p.Gly791=) c.2505G>A (p.Gly835=) n.329+3504C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443102G>C | CA450103714 | SYNGAP1,SYNGAP1-AS1 | c.2292G>C (p.Gly764=) c.2550G>C (p.Gly850=) c.2508G>C (p.Gly836=) c.2373G>C (p.Gly791=) c.2505G>C (p.Gly835=) n.329+3504C>G | |
6 | g.33443102G= | CA1620014494 | SYNGAP1,SYNGAP1-AS1 | c.2292G= (p.Gly764=) c.2550G= (p.Gly850=) c.2508G= (p.Gly836=) c.2373G= (p.Gly791=) c.2505G= (p.Gly835=) n.329+3504C= | |
6 | g.33443102G>T | CA450103715 | SYNGAP1,SYNGAP1-AS1 | c.2292G>T (p.Gly764=) c.2550G>T (p.Gly850=) c.2508G>T (p.Gly836=) c.2373G>T (p.Gly791=) c.2505G>T (p.Gly835=) n.329+3504C>A | |
6 | g.33443103C>A | CA363625820 | SYNGAP1,SYNGAP1-AS1 | c.2293C>A (p.Pro765Thr) c.2551C>A (p.Pro851Thr) c.2509C>A (p.Pro837Thr) c.2374C>A (p.Pro792Thr) c.2506C>A (p.Pro836Thr) n.329+3503G>T | |
6 | g.33443103C>G | CA363625822 | SYNGAP1,SYNGAP1-AS1 | c.2293C>G (p.Pro765Ala) c.2551C>G (p.Pro851Ala) c.2509C>G (p.Pro837Ala) c.2374C>G (p.Pro792Ala) c.2506C>G (p.Pro836Ala) n.329+3503G>C | |
6 | g.33443103C>T | CA363625823 | SYNGAP1,SYNGAP1-AS1 | c.2293C>T (p.Pro765Ser) c.2551C>T (p.Pro851Ser) c.2509C>T (p.Pro837Ser) c.2374C>T (p.Pro792Ser) c.2506C>T (p.Pro836Ser) n.329+3503G>A | |
6 | g.33443104C>A | CA363625825 | SYNGAP1,SYNGAP1-AS1 | c.2294C>A (p.Pro765His) c.2552C>A (p.Pro851His) c.2510C>A (p.Pro837His) c.2375C>A (p.Pro792His) c.2507C>A (p.Pro836His) n.329+3502G>T | |
6 | g.33443104C>G | CA363625827 | SYNGAP1,SYNGAP1-AS1 | c.2294C>G (p.Pro765Arg) c.2552C>G (p.Pro851Arg) c.2510C>G (p.Pro837Arg) c.2375C>G (p.Pro792Arg) c.2507C>G (p.Pro836Arg) n.329+3502G>C | |
6 | g.33443104C>T | CA363625830 | SYNGAP1,SYNGAP1-AS1 | c.2294C>T (p.Pro765Leu) c.2552C>T (p.Pro851Leu) c.2510C>T (p.Pro837Leu) c.2375C>T (p.Pro792Leu) c.2507C>T (p.Pro836Leu) n.329+3502G>A | |
6 | g.33443105T>A | CA450103718 | SYNGAP1,SYNGAP1-AS1 | c.2295T>A (p.Pro765=) c.2553T>A (p.Pro851=) c.2511T>A (p.Pro837=) c.2376T>A (p.Pro792=) c.2508T>A (p.Pro836=) n.329+3501A>T | |
6 | g.33443105T>C | CA450103717 | SYNGAP1,SYNGAP1-AS1 | c.2295T>C (p.Pro765=) c.2553T>C (p.Pro851=) c.2511T>C (p.Pro837=) c.2376T>C (p.Pro792=) c.2508T>C (p.Pro836=) n.329+3501A>G | |
6 | g.33443105T>G | CA450103716 | SYNGAP1,SYNGAP1-AS1 | c.2295T>G (p.Pro765=) c.2553T>G (p.Pro851=) c.2511T>G (p.Pro837=) c.2376T>G (p.Pro792=) c.2508T>G (p.Pro836=) n.329+3501A>C | |
6 | g.33443106G>A | CA363625832 | SYNGAP1,SYNGAP1-AS1 | c.2296G>A (p.Gly766Ser) c.2554G>A (p.Gly852Ser) c.2512G>A (p.Gly838Ser) c.2377G>A (p.Gly793Ser) c.2509G>A (p.Gly837Ser) n.329+3500C>T | |
6 | g.33443106G>C | CA363625836 | SYNGAP1,SYNGAP1-AS1 | c.2296G>C (p.Gly766Arg) c.2554G>C (p.Gly852Arg) c.2512G>C (p.Gly838Arg) c.2377G>C (p.Gly793Arg) c.2509G>C (p.Gly837Arg) n.329+3500C>G | |
6 | g.33443106G>T | CA363625833 | SYNGAP1,SYNGAP1-AS1 | c.2296G>T (p.Gly766Cys) c.2554G>T (p.Gly852Cys) c.2512G>T (p.Gly838Cys) c.2377G>T (p.Gly793Cys) c.2509G>T (p.Gly837Cys) n.329+3500C>A | |
6 | g.33443107G>A | CA363625840 | SYNGAP1,SYNGAP1-AS1 | c.2297G>A (p.Gly766Asp) c.2555G>A (p.Gly852Asp) c.2513G>A (p.Gly838Asp) c.2378G>A (p.Gly793Asp) c.2510G>A (p.Gly837Asp) n.329+3499C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443107G>C | CA363625842 | SYNGAP1,SYNGAP1-AS1 | c.2297G>C (p.Gly766Ala) c.2555G>C (p.Gly852Ala) c.2513G>C (p.Gly838Ala) c.2378G>C (p.Gly793Ala) c.2510G>C (p.Gly837Ala) n.329+3499C>G | |
6 | g.33443107G= | CA1620014495 | SYNGAP1,SYNGAP1-AS1 | c.2297G= (p.Gly766=) c.2555G= (p.Gly852=) c.2513G= (p.Gly838=) c.2378G= (p.Gly793=) c.2510G= (p.Gly837=) n.329+3499C= | |
6 | g.33443107G>T | CA363625845 | SYNGAP1,SYNGAP1-AS1 | c.2297G>T (p.Gly766Val) c.2555G>T (p.Gly852Val) c.2513G>T (p.Gly838Val) c.2378G>T (p.Gly793Val) c.2510G>T (p.Gly837Val) n.329+3499C>A | |
6 | g.33443108T>A | CA450103719 | SYNGAP1,SYNGAP1-AS1 | c.2298T>A (p.Gly766=) c.2556T>A (p.Gly852=) c.2514T>A (p.Gly838=) c.2379T>A (p.Gly793=) c.2511T>A (p.Gly837=) n.329+3498A>T | |
6 | g.33443108T>C | CA450103720 | SYNGAP1,SYNGAP1-AS1 | c.2298T>C (p.Gly766=) c.2556T>C (p.Gly852=) c.2514T>C (p.Gly838=) c.2379T>C (p.Gly793=) c.2511T>C (p.Gly837=) n.329+3498A>G | |
6 | g.33443108T>G | CA450103721 | SYNGAP1,SYNGAP1-AS1 | c.2298T>G (p.Gly766=) c.2556T>G (p.Gly852=) c.2514T>G (p.Gly838=) c.2379T>G (p.Gly793=) c.2511T>G (p.Gly837=) n.329+3498A>C | |
6 | g.33443109G>A | CA363625848 | SYNGAP1,SYNGAP1-AS1 | c.2299G>A (p.Gly767Ser) c.2557G>A (p.Gly853Ser) c.2515G>A (p.Gly839Ser) c.2380G>A (p.Gly794Ser) c.2512G>A (p.Gly838Ser) n.329+3497C>T | |
6 | g.33443109G>C | CA363625851 | SYNGAP1,SYNGAP1-AS1 | c.2299G>C (p.Gly767Arg) c.2557G>C (p.Gly853Arg) c.2515G>C (p.Gly839Arg) c.2380G>C (p.Gly794Arg) c.2512G>C (p.Gly838Arg) n.329+3497C>G | |
6 | g.33443109G>T | CA363625853 | SYNGAP1,SYNGAP1-AS1 | c.2299G>T (p.Gly767Cys) c.2557G>T (p.Gly853Cys) c.2515G>T (p.Gly839Cys) c.2380G>T (p.Gly794Cys) c.2512G>T (p.Gly838Cys) n.329+3497C>A | |
6 | g.33443110G>A | CA363625857 | SYNGAP1,SYNGAP1-AS1 | c.2300G>A (p.Gly767Asp) c.2558G>A (p.Gly853Asp) c.2516G>A (p.Gly839Asp) c.2381G>A (p.Gly794Asp) c.2513G>A (p.Gly838Asp) n.329+3496C>T | |
6 | g.33443110G>C | CA363625858 | SYNGAP1,SYNGAP1-AS1 | c.2300G>C (p.Gly767Ala) c.2558G>C (p.Gly853Ala) c.2516G>C (p.Gly839Ala) c.2381G>C (p.Gly794Ala) c.2513G>C (p.Gly838Ala) n.329+3496C>G | |
6 | g.33443110G>T | CA363625859 | SYNGAP1,SYNGAP1-AS1 | c.2300G>T (p.Gly767Val) c.2558G>T (p.Gly853Val) c.2516G>T (p.Gly839Val) c.2381G>T (p.Gly794Val) c.2513G>T (p.Gly838Val) n.329+3496C>A | |
6 | g.33443111C>A | CA450103722 | SYNGAP1,SYNGAP1-AS1 | c.2301C>A (p.Gly767=) c.2559C>A (p.Gly853=) c.2517C>A (p.Gly839=) c.2382C>A (p.Gly794=) c.2514C>A (p.Gly838=) n.329+3495G>T | |
6 | g.33443111C= | CA1620014496 | SYNGAP1,SYNGAP1-AS1 | c.2301C= (p.Gly767=) c.2559C= (p.Gly853=) c.2517C= (p.Gly839=) c.2382C= (p.Gly794=) c.2514C= (p.Gly838=) n.329+3495G= | |
6 | g.33443111C>G | CA450103723 | SYNGAP1,SYNGAP1-AS1 | c.2301C>G (p.Gly767=) c.2559C>G (p.Gly853=) c.2517C>G (p.Gly839=) c.2382C>G (p.Gly794=) c.2514C>G (p.Gly838=) n.329+3495G>C | |
6 | g.33443111C>T | CA450103724 | SYNGAP1,SYNGAP1-AS1 | c.2301C>T (p.Gly767=) c.2559C>T (p.Gly853=) c.2517C>T (p.Gly839=) c.2382C>T (p.Gly794=) c.2514C>T (p.Gly838=) n.329+3495G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443112C>A | CA363625865 | SYNGAP1,SYNGAP1-AS1 | c.2302C>A (p.Arg768Ser) c.2560C>A (p.Arg854Ser) c.2518C>A (p.Arg840Ser) c.2383C>A (p.Arg795Ser) c.2515C>A (p.Arg839Ser) n.329+3494G>T | |
6 | g.33443112C= | CA1620014498 | SYNGAP1,SYNGAP1-AS1 | c.2302C= (p.Arg768=) c.2560C= (p.Arg854=) c.2518C= (p.Arg840=) c.2383C= (p.Arg795=) c.2515C= (p.Arg839=) n.329+3494G= | |
6 | g.33443112C>G | CA363625867 | SYNGAP1,SYNGAP1-AS1 | c.2302C>G (p.Arg768Gly) c.2560C>G (p.Arg854Gly) c.2518C>G (p.Arg840Gly) c.2383C>G (p.Arg795Gly) c.2515C>G (p.Arg839Gly) n.329+3494G>C | |
6 | g.33443112C>T | CA363625863 | SYNGAP1,SYNGAP1-AS1 | c.2302C>T (p.Arg768Cys) c.2560C>T (p.Arg854Cys) c.2518C>T (p.Arg840Cys) c.2383C>T (p.Arg795Cys) c.2515C>T (p.Arg839Cys) n.329+3494G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.33443112_33443129del | CA913110434 | SYNGAP1,SYNGAP1-AS1 | c.2302_2319del (p.Arg768_Ser773del) c.2560_2577del (p.Arg854_Ser859del) c.2518_2535del (p.Arg840_Ser845del) c.2383_2400del (p.Arg795_Ser800del) c.2515_2532del (p.Arg839_Ser844del) n.329+3477_329+3494del | |
6 | g.33443112_33443129delinsCGCCTCAACAGCAGCAGT | CA1620014497 | SYNGAP1,SYNGAP1-AS1 | c.2302_2319delinsCGCCTCAACAGCAGCAGT (p.Arg768=) c.2560_2577delinsCGCCTCAACAGCAGCAGT (p.Arg854=) c.2518_2535delinsCGCCTCAACAGCAGCAGT (p.Arg840=) c.2383_2400delinsCGCCTCAACAGCAGCAGT (p.Arg795=) c.2515_2532delinsCGCCTCAACAGCAGCAGT (p.Arg839=) n.329+3477_329+3494delinsACTGCTGCTGTTGAGGCG | |
6 | g.33443113G>A | CA363625869 | SYNGAP1,SYNGAP1-AS1 | c.2303G>A (p.Arg768His) c.2561G>A (p.Arg854His) c.2519G>A (p.Arg840His) c.2384G>A (p.Arg795His) c.2516G>A (p.Arg839His) n.329+3493C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.33443113G>C | CA363625872 | SYNGAP1,SYNGAP1-AS1 | c.2303G>C (p.Arg768Pro) c.2561G>C (p.Arg854Pro) c.2519G>C (p.Arg840Pro) c.2384G>C (p.Arg795Pro) c.2516G>C (p.Arg839Pro) n.329+3493C>G | |
6 | g.33443113G= | CA1620014499 | SYNGAP1,SYNGAP1-AS1 | c.2303G= (p.Arg768=) c.2561G= (p.Arg854=) c.2519G= (p.Arg840=) c.2384G= (p.Arg795=) c.2516G= (p.Arg839=) n.329+3493C= | |
6 | g.33443113G>T | CA363625875 | SYNGAP1,SYNGAP1-AS1 | c.2303G>T (p.Arg768Leu) c.2561G>T (p.Arg854Leu) c.2519G>T (p.Arg840Leu) c.2384G>T (p.Arg795Leu) c.2516G>T (p.Arg839Leu) n.329+3493C>A | |
6 | g.33443114_33443130del | CA658822623 | SYNGAP1,SYNGAP1-AS1 | c.2304_2320del (p.Leu769PhefsTer?) c.2562_2578del (p.Leu855PhefsTer?) c.2520_2536del (p.Leu841PhefsTer?) c.2385_2401del (p.Leu796PhefsTer?) c.2517_2533del (p.Leu840PhefsTer?) n.329+3477_329+3493del | ClinVar dbSNP |
6 | g.33443114C>A | CA450103725 | SYNGAP1,SYNGAP1-AS1 | c.2304C>A (p.Arg768=) c.2562C>A (p.Arg854=) c.2520C>A (p.Arg840=) c.2385C>A (p.Arg795=) c.2517C>A (p.Arg839=) n.329+3492G>T | |
6 | g.33443114C= | CA1620014500 | SYNGAP1,SYNGAP1-AS1 | c.2304C= (p.Arg768=) c.2562C= (p.Arg854=) c.2520C= (p.Arg840=) c.2385C= (p.Arg795=) c.2517C= (p.Arg839=) n.329+3492G= | |
6 | g.33443114C>G | CA450103726 | SYNGAP1,SYNGAP1-AS1 | c.2304C>G (p.Arg768=) c.2562C>G (p.Arg854=) c.2520C>G (p.Arg840=) c.2385C>G (p.Arg795=) c.2517C>G (p.Arg839=) n.329+3492G>C | |
6 | g.33443114C>T | CA137072810 | SYNGAP1,SYNGAP1-AS1 | c.2304C>T (p.Arg768=) c.2562C>T (p.Arg854=) c.2520C>T (p.Arg840=) c.2385C>T (p.Arg795=) c.2517C>T (p.Arg839=) n.329+3492G>A | ClinVar dbSNP gnomAD v4 |
6 | g.33443115C>A | CA363625877 | SYNGAP1,SYNGAP1-AS1 | c.2305C>A (p.Leu769Ile) c.2563C>A (p.Leu855Ile) c.2521C>A (p.Leu841Ile) c.2386C>A (p.Leu796Ile) c.2518C>A (p.Leu840Ile) n.329+3491G>T | |
6 | g.33443115C= | CA1620014501 | SYNGAP1,SYNGAP1-AS1 | c.2305C= (p.Leu769=) c.2563C= (p.Leu855=) c.2521C= (p.Leu841=) c.2386C= (p.Leu796=) c.2518C= (p.Leu840=) n.329+3491G= | |
6 | g.33443115C>G | CA363625879 | SYNGAP1,SYNGAP1-AS1 | c.2305C>G (p.Leu769Val) c.2563C>G (p.Leu855Val) c.2521C>G (p.Leu841Val) c.2386C>G (p.Leu796Val) c.2518C>G (p.Leu840Val) n.329+3491G>C | dbSNP |
6 | g.33443115C>T | CA363625880 | SYNGAP1,SYNGAP1-AS1 | c.2305C>T (p.Leu769Phe) c.2563C>T (p.Leu855Phe) c.2521C>T (p.Leu841Phe) c.2386C>T (p.Leu796Phe) c.2518C>T (p.Leu840Phe) n.329+3491G>A | |
6 | g.33443116T>A | CA363625883 | SYNGAP1,SYNGAP1-AS1 | c.2306T>A (p.Leu769His) c.2564T>A (p.Leu855His) c.2522T>A (p.Leu841His) c.2387T>A (p.Leu796His) c.2519T>A (p.Leu840His) n.329+3490A>T | |
6 | g.33443116T>C | CA363625887 | SYNGAP1,SYNGAP1-AS1 | c.2306T>C (p.Leu769Pro) c.2564T>C (p.Leu855Pro) c.2522T>C (p.Leu841Pro) c.2387T>C (p.Leu796Pro) c.2519T>C (p.Leu840Pro) n.329+3490A>G | |
6 | g.33443116T>G | CA363625885 | SYNGAP1,SYNGAP1-AS1 | c.2306T>G (p.Leu769Arg) c.2564T>G (p.Leu855Arg) c.2522T>G (p.Leu841Arg) c.2387T>G (p.Leu796Arg) c.2519T>G (p.Leu840Arg) n.329+3490A>C | |
6 | g.33443117C>A | CA450103727 | SYNGAP1,SYNGAP1-AS1 | c.2307C>A (p.Leu769=) c.2565C>A (p.Leu855=) c.2523C>A (p.Leu841=) c.2388C>A (p.Leu796=) c.2520C>A (p.Leu840=) n.329+3489G>T | |
6 | g.33443117C= | CA1620014502 | SYNGAP1,SYNGAP1-AS1 | c.2307C= (p.Leu769=) c.2565C= (p.Leu855=) c.2523C= (p.Leu841=) c.2388C= (p.Leu796=) c.2520C= (p.Leu840=) n.329+3489G= | |
6 | g.33443117C>G | CA450103728 | SYNGAP1,SYNGAP1-AS1 | c.2307C>G (p.Leu769=) c.2565C>G (p.Leu855=) c.2523C>G (p.Leu841=) c.2388C>G (p.Leu796=) c.2520C>G (p.Leu840=) n.329+3489G>C | |
6 | g.33443117C>T | CA3758917 | SYNGAP1,SYNGAP1-AS1 | c.2307C>T (p.Leu769=) c.2565C>T (p.Leu855=) c.2523C>T (p.Leu841=) c.2388C>T (p.Leu796=) c.2520C>T (p.Leu840=) n.329+3489G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443118A>C | CA363625893 | SYNGAP1,SYNGAP1-AS1 | c.2308A>C (p.Asn770His) c.2566A>C (p.Asn856His) c.2524A>C (p.Asn842His) c.2389A>C (p.Asn797His) c.2521A>C (p.Asn841His) n.329+3488T>G | |
6 | g.33443118A>G | CA363625895 | SYNGAP1,SYNGAP1-AS1 | c.2308A>G (p.Asn770Asp) c.2566A>G (p.Asn856Asp) c.2524A>G (p.Asn842Asp) c.2389A>G (p.Asn797Asp) c.2521A>G (p.Asn841Asp) n.329+3488T>C | |
6 | g.33443118A>T | CA363625897 | SYNGAP1,SYNGAP1-AS1 | c.2308A>T (p.Asn770Tyr) c.2566A>T (p.Asn856Tyr) c.2524A>T (p.Asn842Tyr) c.2389A>T (p.Asn797Tyr) c.2521A>T (p.Asn841Tyr) n.329+3488T>A | |
6 | g.33443119A= | CA1620014503 | SYNGAP1,SYNGAP1-AS1 | c.2309A= (p.Asn770=) c.2567A= (p.Asn856=) c.2525A= (p.Asn842=) c.2390A= (p.Asn797=) c.2522A= (p.Asn841=) n.329+3487T= | |
6 | g.33443119A>C | CA363625900 | SYNGAP1,SYNGAP1-AS1 | c.2309A>C (p.Asn770Thr) c.2567A>C (p.Asn856Thr) c.2525A>C (p.Asn842Thr) c.2390A>C (p.Asn797Thr) c.2522A>C (p.Asn841Thr) n.329+3487T>G | |
6 | g.33443119A>G | CA3758918 | SYNGAP1,SYNGAP1-AS1 | c.2309A>G (p.Asn770Ser) c.2567A>G (p.Asn856Ser) c.2525A>G (p.Asn842Ser) c.2390A>G (p.Asn797Ser) c.2522A>G (p.Asn841Ser) n.329+3487T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443119A>T | CA363625902 | SYNGAP1,SYNGAP1-AS1 | c.2309A>T (p.Asn770Ile) c.2567A>T (p.Asn856Ile) c.2525A>T (p.Asn842Ile) c.2390A>T (p.Asn797Ile) c.2522A>T (p.Asn841Ile) n.329+3487T>A | |
6 | g.33443120C>A | CA363625907 | SYNGAP1,SYNGAP1-AS1 | c.2310C>A (p.Asn770Lys) c.2568C>A (p.Asn856Lys) c.2526C>A (p.Asn842Lys) c.2391C>A (p.Asn797Lys) c.2523C>A (p.Asn841Lys) n.329+3486G>T | |
6 | g.33443120C= | CA1620014504 | SYNGAP1,SYNGAP1-AS1 | c.2310C= (p.Asn770=) c.2568C= (p.Asn856=) c.2526C= (p.Asn842=) c.2391C= (p.Asn797=) c.2523C= (p.Asn841=) n.329+3486G= | |
6 | g.33443120C>G | CA363625909 | SYNGAP1,SYNGAP1-AS1 | c.2310C>G (p.Asn770Lys) c.2568C>G (p.Asn856Lys) c.2526C>G (p.Asn842Lys) c.2391C>G (p.Asn797Lys) c.2523C>G (p.Asn841Lys) n.329+3486G>C | |
6 | g.33443120C>T | CA3758919 | SYNGAP1,SYNGAP1-AS1 | c.2310C>T (p.Asn770=) c.2568C>T (p.Asn856=) c.2526C>T (p.Asn842=) c.2391C>T (p.Asn797=) c.2523C>T (p.Asn841=) n.329+3486G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443121A>C | CA363625915 | SYNGAP1,SYNGAP1-AS1 | c.2311A>C (p.Ser771Arg) c.2569A>C (p.Ser857Arg) c.2527A>C (p.Ser843Arg) c.2392A>C (p.Ser798Arg) c.2524A>C (p.Ser842Arg) n.329+3485T>G | |
6 | g.33443121A>G | CA363625917 | SYNGAP1,SYNGAP1-AS1 | c.2311A>G (p.Ser771Gly) c.2569A>G (p.Ser857Gly) c.2527A>G (p.Ser843Gly) c.2392A>G (p.Ser798Gly) c.2524A>G (p.Ser842Gly) n.329+3485T>C | |
6 | g.33443121A>T | CA363625920 | SYNGAP1,SYNGAP1-AS1 | c.2311A>T (p.Ser771Cys) c.2569A>T (p.Ser857Cys) c.2527A>T (p.Ser843Cys) c.2392A>T (p.Ser798Cys) c.2524A>T (p.Ser842Cys) n.329+3485T>A | |
6 | g.33443122G>A | CA363625923 | SYNGAP1,SYNGAP1-AS1 | c.2312G>A (p.Ser771Asn) c.2570G>A (p.Ser857Asn) c.2528G>A (p.Ser843Asn) c.2393G>A (p.Ser798Asn) c.2525G>A (p.Ser842Asn) n.329+3484C>T | |
6 | g.33443122G>C | CA363625930 | SYNGAP1,SYNGAP1-AS1 | c.2312G>C (p.Ser771Thr) c.2570G>C (p.Ser857Thr) c.2528G>C (p.Ser843Thr) c.2393G>C (p.Ser798Thr) c.2525G>C (p.Ser842Thr) n.329+3484C>G | |
6 | g.33443122G>T | CA363625933 | SYNGAP1,SYNGAP1-AS1 | c.2312G>T (p.Ser771Ile) c.2570G>T (p.Ser857Ile) c.2528G>T (p.Ser843Ile) c.2393G>T (p.Ser798Ile) c.2525G>T (p.Ser842Ile) n.329+3484C>A | |
6 | g.33443123C>A | CA363625935 | SYNGAP1,SYNGAP1-AS1 | c.2313C>A (p.Ser771Arg) c.2571C>A (p.Ser857Arg) c.2529C>A (p.Ser843Arg) c.2394C>A (p.Ser798Arg) c.2526C>A (p.Ser842Arg) n.329+3483G>T | |
6 | g.33443123C>G | CA363625937 | SYNGAP1,SYNGAP1-AS1 | c.2313C>G (p.Ser771Arg) c.2571C>G (p.Ser857Arg) c.2529C>G (p.Ser843Arg) c.2394C>G (p.Ser798Arg) c.2526C>G (p.Ser842Arg) n.329+3483G>C | |
6 | g.33443123C>T | CA450103729 | SYNGAP1,SYNGAP1-AS1 | c.2313C>T (p.Ser771=) c.2571C>T (p.Ser857=) c.2529C>T (p.Ser843=) c.2394C>T (p.Ser798=) c.2526C>T (p.Ser842=) n.329+3483G>A | ClinVar |
6 | g.33443124A>C | CA363625944 | SYNGAP1,SYNGAP1-AS1 | c.2314A>C (p.Ser772Arg) c.2572A>C (p.Ser858Arg) c.2530A>C (p.Ser844Arg) c.2395A>C (p.Ser799Arg) c.2527A>C (p.Ser843Arg) n.329+3482T>G | |
6 | g.33443124A>G | CA363625946 | SYNGAP1,SYNGAP1-AS1 | c.2314A>G (p.Ser772Gly) c.2572A>G (p.Ser858Gly) c.2530A>G (p.Ser844Gly) c.2395A>G (p.Ser799Gly) c.2527A>G (p.Ser843Gly) n.329+3482T>C | |
6 | g.33443124A>T | CA363625942 | SYNGAP1,SYNGAP1-AS1 | c.2314A>T (p.Ser772Cys) c.2572A>T (p.Ser858Cys) c.2530A>T (p.Ser844Cys) c.2395A>T (p.Ser799Cys) c.2527A>T (p.Ser843Cys) n.329+3482T>A | |
6 | g.33443125G>A | CA3758920 | SYNGAP1,SYNGAP1-AS1 | c.2315G>A (p.Ser772Asn) c.2573G>A (p.Ser858Asn) c.2531G>A (p.Ser844Asn) c.2396G>A (p.Ser799Asn) c.2528G>A (p.Ser843Asn) n.329+3481C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443125G>C | CA363625950 | SYNGAP1,SYNGAP1-AS1 | c.2315G>C (p.Ser772Thr) c.2573G>C (p.Ser858Thr) c.2531G>C (p.Ser844Thr) c.2396G>C (p.Ser799Thr) c.2528G>C (p.Ser843Thr) n.329+3481C>G | |
6 | g.33443125G= | CA1620014505 | SYNGAP1,SYNGAP1-AS1 | c.2315G= (p.Ser772=) c.2573G= (p.Ser858=) c.2531G= (p.Ser844=) c.2396G= (p.Ser799=) c.2528G= (p.Ser843=) n.329+3481C= | |
6 | g.33443125G>T | CA363625953 | SYNGAP1,SYNGAP1-AS1 | c.2315G>T (p.Ser772Ile) c.2573G>T (p.Ser858Ile) c.2531G>T (p.Ser844Ile) c.2396G>T (p.Ser799Ile) c.2528G>T (p.Ser843Ile) n.329+3481C>A | |
6 | g.33443126C>A | CA363625955 | SYNGAP1,SYNGAP1-AS1 | c.2316C>A (p.Ser772Arg) c.2574C>A (p.Ser858Arg) c.2532C>A (p.Ser844Arg) c.2397C>A (p.Ser799Arg) c.2529C>A (p.Ser843Arg) n.329+3480G>T | |
6 | g.33443126C= | CA1620014506 | SYNGAP1,SYNGAP1-AS1 | c.2316C= (p.Ser772=) c.2574C= (p.Ser858=) c.2532C= (p.Ser844=) c.2397C= (p.Ser799=) c.2529C= (p.Ser843=) n.329+3480G= | |
6 | g.33443126C>G | CA363625956 | SYNGAP1,SYNGAP1-AS1 | c.2316C>G (p.Ser772Arg) c.2574C>G (p.Ser858Arg) c.2532C>G (p.Ser844Arg) c.2397C>G (p.Ser799Arg) c.2529C>G (p.Ser843Arg) n.329+3480G>C | |
6 | g.33443126C>T | CA450103730 | SYNGAP1,SYNGAP1-AS1 | c.2316C>T (p.Ser772=) c.2574C>T (p.Ser858=) c.2532C>T (p.Ser844=) c.2397C>T (p.Ser799=) c.2529C>T (p.Ser843=) n.329+3480G>A | dbSNP |
6 | g.33443127A>C | CA363625964 | SYNGAP1,SYNGAP1-AS1 | c.2317A>C (p.Ser773Arg) c.2575A>C (p.Ser859Arg) c.2533A>C (p.Ser845Arg) c.2398A>C (p.Ser800Arg) c.2530A>C (p.Ser844Arg) n.329+3479T>G | |
6 | g.33443127A>G | CA363625961 | SYNGAP1,SYNGAP1-AS1 | c.2317A>G (p.Ser773Gly) c.2575A>G (p.Ser859Gly) c.2533A>G (p.Ser845Gly) c.2398A>G (p.Ser800Gly) c.2530A>G (p.Ser844Gly) n.329+3479T>C | |
6 | g.33443127A>T | CA363625962 | SYNGAP1,SYNGAP1-AS1 | c.2317A>T (p.Ser773Cys) c.2575A>T (p.Ser859Cys) c.2533A>T (p.Ser845Cys) c.2398A>T (p.Ser800Cys) c.2530A>T (p.Ser844Cys) n.329+3479T>A | |
6 | g.33443127_33443129del | CA2678275663 | SYNGAP1,SYNGAP1-AS1 | c.2317_2319del (p.Ser773del) c.2575_2577del (p.Ser859del) c.2533_2535del (p.Ser845del) c.2398_2400del (p.Ser800del) c.2530_2532del (p.Ser844del) n.329+3477_329+3479del | gnomAD v4 |
6 | g.33443127_33443129delinsAGT | CA1620014507 | SYNGAP1,SYNGAP1-AS1 | c.2317_2319delinsAGT (p.Ser773=) c.2575_2577delinsAGT (p.Ser859=) c.2533_2535delinsAGT (p.Ser845=) c.2398_2400delinsAGT (p.Ser800=) c.2530_2532delinsAGT (p.Ser844=) n.329+3477_329+3479delinsACT | |
6 | g.33443128G>A | CA363625966 | SYNGAP1,SYNGAP1-AS1 | c.2318G>A (p.Ser773Asn) c.2576G>A (p.Ser859Asn) c.2534G>A (p.Ser845Asn) c.2399G>A (p.Ser800Asn) c.2531G>A (p.Ser844Asn) n.329+3478C>T | |
6 | g.33443128G>C | CA363625968 | SYNGAP1,SYNGAP1-AS1 | c.2318G>C (p.Ser773Thr) c.2576G>C (p.Ser859Thr) c.2534G>C (p.Ser845Thr) c.2399G>C (p.Ser800Thr) c.2531G>C (p.Ser844Thr) n.329+3478C>G | |
6 | g.33443128G>T | CA363625970 | SYNGAP1,SYNGAP1-AS1 | c.2318G>T (p.Ser773Ile) c.2576G>T (p.Ser859Ile) c.2534G>T (p.Ser845Ile) c.2399G>T (p.Ser800Ile) c.2531G>T (p.Ser844Ile) n.329+3478C>A | |
6 | g.33443130_33443131del | CA10584020 | SYNGAP1,SYNGAP1-AS1 | c.2320_2321del (p.Val774PhefsTer?) c.2578_2579del (p.Val860PhefsTer?) c.2536_2537del (p.Val846PhefsTer?) c.2401_2402del (p.Val801PhefsTer?) c.2533_2534del (p.Val845PhefsTer?) n.329+3477_329+3478del | ClinVar dbSNP |
6 | g.33443129T>A | CA363625974 | SYNGAP1,SYNGAP1-AS1 | c.2319T>A (p.Ser773Arg) c.2577T>A (p.Ser859Arg) c.2535T>A (p.Ser845Arg) c.2400T>A (p.Ser800Arg) c.2532T>A (p.Ser844Arg) n.329+3477A>T | |
6 | g.33443129T>C | CA137072837 | SYNGAP1,SYNGAP1-AS1 | c.2319T>C (p.Ser773=) c.2577T>C (p.Ser859=) c.2535T>C (p.Ser845=) c.2400T>C (p.Ser800=) c.2532T>C (p.Ser844=) n.329+3477A>G | dbSNP |
6 | g.33443129T>G | CA363625975 | SYNGAP1,SYNGAP1-AS1 | c.2319T>G (p.Ser773Arg) c.2577T>G (p.Ser859Arg) c.2535T>G (p.Ser845Arg) c.2400T>G (p.Ser800Arg) c.2532T>G (p.Ser844Arg) n.329+3477A>C | |
6 | g.33443129T= | CA1620014508 | SYNGAP1,SYNGAP1-AS1 | c.2319T= (p.Ser773=) c.2577T= (p.Ser859=) c.2535T= (p.Ser845=) c.2400T= (p.Ser800=) c.2532T= (p.Ser844=) n.329+3477A= | |
6 | g.33443130G>A | CA16611962 | SYNGAP1,SYNGAP1-AS1 | c.2320G>A (p.Val774Ile) c.2578G>A (p.Val860Ile) c.2536G>A (p.Val846Ile) c.2401G>A (p.Val801Ile) c.2533G>A (p.Val845Ile) n.329+3476C>T | ClinVar dbSNP gnomAD v4 |
6 | g.33443130G>C | CA363625981 | SYNGAP1,SYNGAP1-AS1 | c.2320G>C (p.Val774Leu) c.2578G>C (p.Val860Leu) c.2536G>C (p.Val846Leu) c.2401G>C (p.Val801Leu) c.2533G>C (p.Val845Leu) n.329+3476C>G | COSMIC COSMIC |
6 | g.33443130G= | CA1620014509 | SYNGAP1,SYNGAP1-AS1 | c.2320G= (p.Val774=) c.2578G= (p.Val860=) c.2536G= (p.Val846=) c.2401G= (p.Val801=) c.2533G= (p.Val845=) n.329+3476C= | |
6 | g.33443130G>T | CA363625979 | SYNGAP1,SYNGAP1-AS1 | c.2320G>T (p.Val774Phe) c.2578G>T (p.Val860Phe) c.2536G>T (p.Val846Phe) c.2401G>T (p.Val801Phe) c.2533G>T (p.Val845Phe) n.329+3476C>A | |
6 | g.33443131T>A | CA363625984 | SYNGAP1,SYNGAP1-AS1 | c.2321T>A (p.Val774Asp) c.2579T>A (p.Val860Asp) c.2537T>A (p.Val846Asp) c.2402T>A (p.Val801Asp) c.2534T>A (p.Val845Asp) n.329+3475A>T | |
6 | g.33443131T>C | CA363625986 | SYNGAP1,SYNGAP1-AS1 | c.2321T>C (p.Val774Ala) c.2579T>C (p.Val860Ala) c.2537T>C (p.Val846Ala) c.2402T>C (p.Val801Ala) c.2534T>C (p.Val845Ala) n.329+3475A>G | |
6 | g.33443131T>G | CA363625989 | SYNGAP1,SYNGAP1-AS1 | c.2321T>G (p.Val774Gly) c.2579T>G (p.Val860Gly) c.2537T>G (p.Val846Gly) c.2402T>G (p.Val801Gly) c.2534T>G (p.Val845Gly) n.329+3475A>C | |
6 | g.33443132T>A | CA450103732 | SYNGAP1,SYNGAP1-AS1 | c.2322T>A (p.Val774=) c.2580T>A (p.Val860=) c.2538T>A (p.Val846=) c.2403T>A (p.Val801=) c.2535T>A (p.Val845=) n.329+3474A>T | |
6 | g.33443132T>C | CA450103733 | SYNGAP1,SYNGAP1-AS1 | c.2322T>C (p.Val774=) c.2580T>C (p.Val860=) c.2538T>C (p.Val846=) c.2403T>C (p.Val801=) c.2535T>C (p.Val845=) n.329+3474A>G | |
6 | g.33443132T>G | CA450103734 | SYNGAP1,SYNGAP1-AS1 | c.2322T>G (p.Val774=) c.2580T>G (p.Val860=) c.2538T>G (p.Val846=) c.2403T>G (p.Val801=) c.2535T>G (p.Val845=) n.329+3474A>C | |
6 | g.33443133T>A | CA363625991 | SYNGAP1,SYNGAP1-AS1 | c.2323T>A (p.Ser775Thr) c.2581T>A (p.Ser861Thr) c.2539T>A (p.Ser847Thr) c.2404T>A (p.Ser802Thr) c.2536T>A (p.Ser846Thr) n.329+3473A>T | |
6 | g.33443133T>C | CA363625993 | SYNGAP1,SYNGAP1-AS1 | c.2323T>C (p.Ser775Pro) c.2581T>C (p.Ser861Pro) c.2539T>C (p.Ser847Pro) c.2404T>C (p.Ser802Pro) c.2536T>C (p.Ser846Pro) n.329+3473A>G | |
6 | g.33443133T>G | CA363625994 | SYNGAP1,SYNGAP1-AS1 | c.2323T>G (p.Ser775Ala) c.2581T>G (p.Ser861Ala) c.2539T>G (p.Ser847Ala) c.2404T>G (p.Ser802Ala) c.2536T>G (p.Ser846Ala) n.329+3473A>C | |
6 | g.33443134C>A | CA363625997 | SYNGAP1,SYNGAP1-AS1 | c.2324C>A (p.Ser775Ter) c.2582C>A (p.Ser861Ter) c.2540C>A (p.Ser847Ter) c.2405C>A (p.Ser802Ter) c.2537C>A (p.Ser846Ter) n.329+3472G>T | dbSNP |
6 | g.33443134C= | CA1620014510 | SYNGAP1,SYNGAP1-AS1 | c.2324C= (p.Ser775=) c.2582C= (p.Ser861=) c.2540C= (p.Ser847=) c.2405C= (p.Ser802=) c.2537C= (p.Ser846=) n.329+3472G= | |
6 | g.33443134C>G | CA363626001 | SYNGAP1,SYNGAP1-AS1 | c.2324C>G (p.Ser775Trp) c.2582C>G (p.Ser861Trp) c.2540C>G (p.Ser847Trp) c.2405C>G (p.Ser802Trp) c.2537C>G (p.Ser846Trp) n.329+3472G>C | |
6 | g.33443134C>T | CA3758921 | SYNGAP1,SYNGAP1-AS1 | c.2324C>T (p.Ser775Leu) c.2582C>T (p.Ser861Leu) c.2540C>T (p.Ser847Leu) c.2405C>T (p.Ser802Leu) c.2537C>T (p.Ser846Leu) n.329+3472G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443135G>A | CA207273 | SYNGAP1,SYNGAP1-AS1 | c.2325G>A (p.Ser775=) c.2583G>A (p.Ser861=) c.2541G>A (p.Ser847=) c.2406G>A (p.Ser802=) c.2538G>A (p.Ser846=) n.329+3471C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.33443135G>C | CA450103735 | SYNGAP1,SYNGAP1-AS1 | c.2325G>C (p.Ser775=) c.2583G>C (p.Ser861=) c.2541G>C (p.Ser847=) c.2406G>C (p.Ser802=) c.2538G>C (p.Ser846=) n.329+3471C>G | ClinVar gnomAD v4 |
6 | g.33443135G= | CA1620014511 | SYNGAP1,SYNGAP1-AS1 | c.2325G= (p.Ser775=) c.2583G= (p.Ser861=) c.2541G= (p.Ser847=) c.2406G= (p.Ser802=) c.2538G= (p.Ser846=) n.329+3471C= | |
6 | g.33443135G>T | CA450103736 | SYNGAP1,SYNGAP1-AS1 | c.2325G>T (p.Ser775=) c.2583G>T (p.Ser861=) c.2541G>T (p.Ser847=) c.2406G>T (p.Ser802=) c.2538G>T (p.Ser846=) n.329+3471C>A | |
6 | g.33443136A>C | CA363626006 | SYNGAP1,SYNGAP1-AS1 | c.2326A>C (p.Asn776His) c.2584A>C (p.Asn862His) c.2542A>C (p.Asn848His) c.2407A>C (p.Asn803His) c.2539A>C (p.Asn847His) n.329+3470T>G | |
6 | g.33443136A>G | CA363626008 | SYNGAP1,SYNGAP1-AS1 | c.2326A>G (p.Asn776Asp) c.2584A>G (p.Asn862Asp) c.2542A>G (p.Asn848Asp) c.2407A>G (p.Asn803Asp) c.2539A>G (p.Asn847Asp) n.329+3470T>C | |
6 | g.33443136A>T | CA363626010 | SYNGAP1,SYNGAP1-AS1 | c.2326A>T (p.Asn776Tyr) c.2584A>T (p.Asn862Tyr) c.2542A>T (p.Asn848Tyr) c.2407A>T (p.Asn803Tyr) c.2539A>T (p.Asn847Tyr) n.329+3470T>A | |
6 | g.33443137A>C | CA363626012 | SYNGAP1,SYNGAP1-AS1 | c.2327A>C (p.Asn776Thr) c.2585A>C (p.Asn862Thr) c.2543A>C (p.Asn848Thr) c.2408A>C (p.Asn803Thr) c.2540A>C (p.Asn847Thr) n.329+3469T>G | |
6 | g.33443137A>G | CA363626017 | SYNGAP1,SYNGAP1-AS1 | c.2327A>G (p.Asn776Ser) c.2585A>G (p.Asn862Ser) c.2543A>G (p.Asn848Ser) c.2408A>G (p.Asn803Ser) c.2540A>G (p.Asn847Ser) n.329+3469T>C | |
6 | g.33443137A>T | CA363626015 | SYNGAP1,SYNGAP1-AS1 | c.2327A>T (p.Asn776Ile) c.2585A>T (p.Asn862Ile) c.2543A>T (p.Asn848Ile) c.2408A>T (p.Asn803Ile) c.2540A>T (p.Asn847Ile) n.329+3469T>A | |
6 | g.33443138C>A | CA363626019 | SYNGAP1,SYNGAP1-AS1 | c.2328C>A (p.Asn776Lys) c.2586C>A (p.Asn862Lys) c.2544C>A (p.Asn848Lys) c.2409C>A (p.Asn803Lys) c.2541C>A (p.Asn847Lys) n.329+3468G>T | |
6 | g.33443138C>G | CA363626021 | SYNGAP1,SYNGAP1-AS1 | c.2328C>G (p.Asn776Lys) c.2586C>G (p.Asn862Lys) c.2544C>G (p.Asn848Lys) c.2409C>G (p.Asn803Lys) c.2541C>G (p.Asn847Lys) n.329+3468G>C | |
6 | g.33443138C>T | CA450103737 | SYNGAP1,SYNGAP1-AS1 | c.2328C>T (p.Asn776=) c.2586C>T (p.Asn862=) c.2544C>T (p.Asn848=) c.2409C>T (p.Asn803=) c.2541C>T (p.Asn847=) n.329+3468G>A | |
6 | g.33443139C>A | CA363626024 | SYNGAP1,SYNGAP1-AS1 | c.2329C>A (p.Leu777Met) c.2587C>A (p.Leu863Met) c.2545C>A (p.Leu849Met) c.2410C>A (p.Leu804Met) c.2542C>A (p.Leu848Met) n.329+3467G>T | |
6 | g.33443139C>G | CA363626026 | SYNGAP1,SYNGAP1-AS1 | c.2329C>G (p.Leu777Val) c.2587C>G (p.Leu863Val) c.2545C>G (p.Leu849Val) c.2410C>G (p.Leu804Val) c.2542C>G (p.Leu848Val) n.329+3467G>C | |
6 | g.33443139C>T | CA450103738 | SYNGAP1,SYNGAP1-AS1 | c.2329C>T (p.Leu777=) c.2587C>T (p.Leu863=) c.2545C>T (p.Leu849=) c.2410C>T (p.Leu804=) c.2542C>T (p.Leu848=) n.329+3467G>A | |
6 | g.33443140T>A | CA363626031 | SYNGAP1,SYNGAP1-AS1 | c.2330T>A (p.Leu777Gln) c.2588T>A (p.Leu863Gln) c.2546T>A (p.Leu849Gln) c.2411T>A (p.Leu804Gln) c.2543T>A (p.Leu848Gln) n.329+3466A>T | |
6 | g.33443140T>C | CA363626032 | SYNGAP1,SYNGAP1-AS1 | c.2330T>C (p.Leu777Pro) c.2588T>C (p.Leu863Pro) c.2546T>C (p.Leu849Pro) c.2411T>C (p.Leu804Pro) c.2543T>C (p.Leu848Pro) n.329+3466A>G | |
6 | g.33443140T>G | CA363626033 | SYNGAP1,SYNGAP1-AS1 | c.2330T>G (p.Leu777Arg) c.2588T>G (p.Leu863Arg) c.2546T>G (p.Leu849Arg) c.2411T>G (p.Leu804Arg) c.2543T>G (p.Leu848Arg) n.329+3466A>C | |
6 | g.33443140_33443143delinsTGGC | CA1620014512 | SYNGAP1,SYNGAP1-AS1 | c.2330_2333delinsTGGC (p.Leu777=) c.2588_2591delinsTGGC (p.Leu863=) c.2546_2549delinsTGGC (p.Leu849=) c.2411_2414delinsTGGC (p.Leu804=) c.2543_2546delinsTGGC (p.Leu848=) n.329+3463_329+3466delinsGCCA | |
6 | g.33443141G>A | CA450103739 | SYNGAP1,SYNGAP1-AS1 | c.2331G>A (p.Leu777=) c.2589G>A (p.Leu863=) c.2547G>A (p.Leu849=) c.2412G>A (p.Leu804=) c.2544G>A (p.Leu848=) n.329+3465C>T | |
6 | g.33443141G>C | CA450103740 | SYNGAP1,SYNGAP1-AS1 | c.2331G>C (p.Leu777=) c.2589G>C (p.Leu863=) c.2547G>C (p.Leu849=) c.2412G>C (p.Leu804=) c.2544G>C (p.Leu848=) n.329+3465C>G | |
6 | g.33443141G>T | CA450103741 | SYNGAP1,SYNGAP1-AS1 | c.2331G>T (p.Leu777=) c.2589G>T (p.Leu863=) c.2547G>T (p.Leu849=) c.2412G>T (p.Leu804=) c.2544G>T (p.Leu848=) n.329+3465C>A | |
6 | g.33443144_33443146del | CA3758922 | SYNGAP1,SYNGAP1-AS1 | c.2334_2336del (p.Ala779del) c.2592_2594del (p.Ala865del) c.2550_2552del (p.Ala851del) c.2415_2417del (p.Ala806del) c.2547_2549del (p.Ala850del) n.329+3463_329+3465del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443142G>A | CA363626037 | SYNGAP1,SYNGAP1-AS1 | c.2332G>A (p.Ala778Thr) c.2590G>A (p.Ala864Thr) c.2548G>A (p.Ala850Thr) c.2413G>A (p.Ala805Thr) c.2545G>A (p.Ala849Thr) n.329+3464C>T | dbSNP |
6 | g.33443142G>C | CA363626039 | SYNGAP1,SYNGAP1-AS1 | c.2332G>C (p.Ala778Pro) c.2590G>C (p.Ala864Pro) c.2548G>C (p.Ala850Pro) c.2413G>C (p.Ala805Pro) c.2545G>C (p.Ala849Pro) n.329+3464C>G | |
6 | g.33443142G= | CA1620014513 | SYNGAP1,SYNGAP1-AS1 | c.2332G= (p.Ala778=) c.2590G= (p.Ala864=) c.2548G= (p.Ala850=) c.2413G= (p.Ala805=) c.2545G= (p.Ala849=) n.329+3464C= | |
6 | g.33443142G>T | CA363626042 | SYNGAP1,SYNGAP1-AS1 | c.2332G>T (p.Ala778Ser) c.2590G>T (p.Ala864Ser) c.2548G>T (p.Ala850Ser) c.2413G>T (p.Ala805Ser) c.2545G>T (p.Ala849Ser) n.329+3464C>A | |
6 | g.33443143_33443144del | CA2580074376 | SYNGAP1,SYNGAP1-AS1 | c.2333_2334del (p.Ala778GlyfsTer?) c.2591_2592del (p.Ala864GlyfsTer?) c.2549_2550del (p.Ala850GlyfsTer?) c.2414_2415del (p.Ala805GlyfsTer?) c.2546_2547del (p.Ala849GlyfsTer?) n.329+3463_329+3464del | ClinVar |
6 | g.33443143C>A | CA363626045 | SYNGAP1,SYNGAP1-AS1 | c.2333C>A (p.Ala778Glu) c.2591C>A (p.Ala864Glu) c.2549C>A (p.Ala850Glu) c.2414C>A (p.Ala805Glu) c.2546C>A (p.Ala849Glu) n.329+3463G>T | |
6 | g.33443143C= | CA1620014514 | SYNGAP1,SYNGAP1-AS1 | c.2333C= (p.Ala778=) c.2591C= (p.Ala864=) c.2549C= (p.Ala850=) c.2414C= (p.Ala805=) c.2546C= (p.Ala849=) n.329+3463G= | |
6 | g.33443143C>G | CA363626047 | SYNGAP1,SYNGAP1-AS1 | c.2333C>G (p.Ala778Gly) c.2591C>G (p.Ala864Gly) c.2549C>G (p.Ala850Gly) c.2414C>G (p.Ala805Gly) c.2546C>G (p.Ala849Gly) n.329+3463G>C | |
6 | g.33443143C>T | CA363626050 | SYNGAP1,SYNGAP1-AS1 | c.2333C>T (p.Ala778Val) c.2591C>T (p.Ala864Val) c.2549C>T (p.Ala850Val) c.2414C>T (p.Ala805Val) c.2546C>T (p.Ala849Val) n.329+3463G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443144G>A | CA137072870 | SYNGAP1,SYNGAP1-AS1 | c.2334G>A (p.Ala778=) c.2592G>A (p.Ala864=) c.2550G>A (p.Ala850=) c.2415G>A (p.Ala805=) c.2547G>A (p.Ala849=) n.329+3462C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443144G>C | CA450103742 | SYNGAP1,SYNGAP1-AS1 | c.2334G>C (p.Ala778=) c.2592G>C (p.Ala864=) c.2550G>C (p.Ala850=) c.2415G>C (p.Ala805=) c.2547G>C (p.Ala849=) n.329+3462C>G | |
6 | g.33443144G= | CA1620014515 | SYNGAP1,SYNGAP1-AS1 | c.2334G= (p.Ala778=) c.2592G= (p.Ala864=) c.2550G= (p.Ala850=) c.2415G= (p.Ala805=) c.2547G= (p.Ala849=) n.329+3462C= | |
6 | g.33443144G>T | CA450103743 | SYNGAP1,SYNGAP1-AS1 | c.2334G>T (p.Ala778=) c.2592G>T (p.Ala864=) c.2550G>T (p.Ala850=) c.2415G>T (p.Ala805=) c.2547G>T (p.Ala849=) n.329+3462C>A | |
6 | g.33443146_33443154del | CA2580074378 | SYNGAP1,SYNGAP1-AS1 | c.2336_2344del (p.Ala779_Gly781del) c.2594_2602del (p.Ala865_Gly867del) c.2552_2560del (p.Ala851_Gly853del) c.2417_2425del (p.Ala806_Gly808del) c.2549_2557del (p.Ala850_Gly852del) n.329+3454_329+3462del | ClinVar |
6 | g.33443145G>A | CA363626052 | SYNGAP1,SYNGAP1-AS1 | c.2335G>A (p.Ala779Thr) c.2593G>A (p.Ala865Thr) c.2551G>A (p.Ala851Thr) c.2416G>A (p.Ala806Thr) c.2548G>A (p.Ala850Thr) n.329+3461C>T | |
6 | g.33443145G>C | CA363626056 | SYNGAP1,SYNGAP1-AS1 | c.2335G>C (p.Ala779Pro) c.2593G>C (p.Ala865Pro) c.2551G>C (p.Ala851Pro) c.2416G>C (p.Ala806Pro) c.2548G>C (p.Ala850Pro) n.329+3461C>G | |
6 | g.33443145G>T | CA363626054 | SYNGAP1,SYNGAP1-AS1 | c.2335G>T (p.Ala779Ser) c.2593G>T (p.Ala865Ser) c.2551G>T (p.Ala851Ser) c.2416G>T (p.Ala806Ser) c.2548G>T (p.Ala850Ser) n.329+3461C>A | |
6 | g.33443146C>A | CA363626059 | SYNGAP1,SYNGAP1-AS1 | c.2336C>A (p.Ala779Asp) c.2594C>A (p.Ala865Asp) c.2552C>A (p.Ala851Asp) c.2417C>A (p.Ala806Asp) c.2549C>A (p.Ala850Asp) n.329+3460G>T | |
6 | g.33443146C>G | CA363626061 | SYNGAP1,SYNGAP1-AS1 | c.2336C>G (p.Ala779Gly) c.2594C>G (p.Ala865Gly) c.2552C>G (p.Ala851Gly) c.2417C>G (p.Ala806Gly) c.2549C>G (p.Ala850Gly) n.329+3460G>C | dbSNP |
6 | g.33443146C>T | CA363626062 | SYNGAP1,SYNGAP1-AS1 | c.2336C>T (p.Ala779Val) c.2594C>T (p.Ala865Val) c.2552C>T (p.Ala851Val) c.2417C>T (p.Ala806Val) c.2549C>T (p.Ala850Val) n.329+3460G>A | |
6 | g.33443147C>A | CA450103744 | SYNGAP1,SYNGAP1-AS1 | c.2337C>A (p.Ala779=) c.2595C>A (p.Ala865=) c.2553C>A (p.Ala851=) c.2418C>A (p.Ala806=) c.2550C>A (p.Ala850=) n.329+3459G>T | |
6 | g.33443147C= | CA1620014516 | SYNGAP1,SYNGAP1-AS1 | c.2337C= (p.Ala779=) c.2595C= (p.Ala865=) c.2553C= (p.Ala851=) c.2418C= (p.Ala806=) c.2550C= (p.Ala850=) n.329+3459G= | |
6 | g.33443147C>G | CA450103745 | SYNGAP1,SYNGAP1-AS1 | c.2337C>G (p.Ala779=) c.2595C>G (p.Ala865=) c.2553C>G (p.Ala851=) c.2418C>G (p.Ala806=) c.2550C>G (p.Ala850=) n.329+3459G>C | |
6 | g.33443147C>T | CA3758923 | SYNGAP1,SYNGAP1-AS1 | c.2337C>T (p.Ala779=) c.2595C>T (p.Ala865=) c.2553C>T (p.Ala851=) c.2418C>T (p.Ala806=) c.2550C>T (p.Ala850=) n.329+3459G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443148G>A | CA3758925 | SYNGAP1,SYNGAP1-AS1 | c.2338G>A (p.Val780Ile) c.2596G>A (p.Val866Ile) c.2554G>A (p.Val852Ile) c.2419G>A (p.Val807Ile) c.2551G>A (p.Val851Ile) n.329+3458C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443148G>C | CA363626068 | SYNGAP1,SYNGAP1-AS1 | c.2338G>C (p.Val780Leu) c.2596G>C (p.Val866Leu) c.2554G>C (p.Val852Leu) c.2419G>C (p.Val807Leu) c.2551G>C (p.Val851Leu) n.329+3458C>G | |
6 | g.33443148G= | CA1620014517 | SYNGAP1,SYNGAP1-AS1 | c.2338G= (p.Val780=) c.2596G= (p.Val866=) c.2554G= (p.Val852=) c.2419G= (p.Val807=) c.2551G= (p.Val851=) n.329+3458C= | |
6 | g.33443148G>T | CA3758924 | SYNGAP1,SYNGAP1-AS1 | c.2338G>T (p.Val780Leu) c.2596G>T (p.Val866Leu) c.2554G>T (p.Val852Leu) c.2419G>T (p.Val807Leu) c.2551G>T (p.Val851Leu) n.329+3458C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443149T>A | CA363626073 | SYNGAP1,SYNGAP1-AS1 | c.2339T>A (p.Val780Glu) c.2597T>A (p.Val866Glu) c.2555T>A (p.Val852Glu) c.2420T>A (p.Val807Glu) c.2552T>A (p.Val851Glu) n.329+3457A>T | |
6 | g.33443149T>C | CA363626074 | SYNGAP1,SYNGAP1-AS1 | c.2339T>C (p.Val780Ala) c.2597T>C (p.Val866Ala) c.2555T>C (p.Val852Ala) c.2420T>C (p.Val807Ala) c.2552T>C (p.Val851Ala) n.329+3457A>G | gnomAD v4 |
6 | g.33443149T>G | CA363626075 | SYNGAP1,SYNGAP1-AS1 | c.2339T>G (p.Val780Gly) c.2597T>G (p.Val866Gly) c.2555T>G (p.Val852Gly) c.2420T>G (p.Val807Gly) c.2552T>G (p.Val851Gly) n.329+3457A>C | |
6 | g.33443150A>C | CA450103746 | SYNGAP1,SYNGAP1-AS1 | c.2340A>C (p.Val780=) c.2598A>C (p.Val866=) c.2556A>C (p.Val852=) c.2421A>C (p.Val807=) c.2553A>C (p.Val851=) n.329+3456T>G | |
6 | g.33443150A>G | CA450103747 | SYNGAP1,SYNGAP1-AS1 | c.2340A>G (p.Val780=) c.2598A>G (p.Val866=) c.2556A>G (p.Val852=) c.2421A>G (p.Val807=) c.2553A>G (p.Val851=) n.329+3456T>C | |
6 | g.33443150A>T | CA450103748 | SYNGAP1,SYNGAP1-AS1 | c.2340A>T (p.Val780=) c.2598A>T (p.Val866=) c.2556A>T (p.Val852=) c.2421A>T (p.Val807=) c.2553A>T (p.Val851=) n.329+3456T>A | |
6 | g.33443150_33443151delinsAG | CA1620014518 | SYNGAP1,SYNGAP1-AS1 | c.2340_2341delinsAG (p.Val780=) c.2598_2599delinsAG (p.Val866=) c.2556_2557delinsAG (p.Val852=) c.2421_2422delinsAG (p.Val807=) c.2553_2554delinsAG (p.Val851=) n.329+3455_329+3456delinsCT | |
6 | g.33443151G>A | CA363626083 | SYNGAP1,SYNGAP1-AS1 | c.2341G>A (p.Gly781Arg) c.2599G>A (p.Gly867Arg) c.2557G>A (p.Gly853Arg) c.2422G>A (p.Gly808Arg) c.2554G>A (p.Gly852Arg) n.329+3455C>T | |
6 | g.33443151G>C | CA363626082 | SYNGAP1,SYNGAP1-AS1 | c.2341G>C (p.Gly781Arg) c.2599G>C (p.Gly867Arg) c.2557G>C (p.Gly853Arg) c.2422G>C (p.Gly808Arg) c.2554G>C (p.Gly852Arg) n.329+3455C>G | gnomAD v4 |
6 | g.33443151G>T | CA363626085 | SYNGAP1,SYNGAP1-AS1 | c.2341G>T (p.Gly781Trp) c.2599G>T (p.Gly867Trp) c.2557G>T (p.Gly853Trp) c.2422G>T (p.Gly808Trp) c.2554G>T (p.Gly852Trp) n.329+3455C>A | |
6 | g.33443154del | CA155637 | SYNGAP1,SYNGAP1-AS1 | c.2344del (p.Asp782ThrfsTer10) c.2602del (p.Asp868ThrfsTer10) c.2560del (p.Asp854ThrfsTer10) c.2425del (p.Asp809ThrfsTer10) c.2557del (p.Asp853ThrfsTer10) n.329+3455del | ClinVar dbSNP |
6 | g.33443152G>A | CA3758926 | SYNGAP1,SYNGAP1-AS1 | c.2342G>A (p.Gly781Glu) c.2600G>A (p.Gly867Glu) c.2558G>A (p.Gly853Glu) c.2423G>A (p.Gly808Glu) c.2555G>A (p.Gly852Glu) n.329+3454C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443152G>C | CA363626090 | SYNGAP1,SYNGAP1-AS1 | c.2342G>C (p.Gly781Ala) c.2600G>C (p.Gly867Ala) c.2558G>C (p.Gly853Ala) c.2423G>C (p.Gly808Ala) c.2555G>C (p.Gly852Ala) n.329+3454C>G | |
6 | g.33443152G= | CA1620014519 | SYNGAP1,SYNGAP1-AS1 | c.2342G= (p.Gly781=) c.2600G= (p.Gly867=) c.2558G= (p.Gly853=) c.2423G= (p.Gly808=) c.2555G= (p.Gly852=) n.329+3454C= | |
6 | g.33443152G>T | CA363626091 | SYNGAP1,SYNGAP1-AS1 | c.2342G>T (p.Gly781Val) c.2600G>T (p.Gly867Val) c.2558G>T (p.Gly853Val) c.2423G>T (p.Gly808Val) c.2555G>T (p.Gly852Val) n.329+3454C>A | |
6 | g.33443153G>A | CA450103751 | SYNGAP1,SYNGAP1-AS1 | c.2343G>A (p.Gly781=) c.2601G>A (p.Gly867=) c.2559G>A (p.Gly853=) c.2424G>A (p.Gly808=) c.2556G>A (p.Gly852=) n.329+3453C>T | gnomAD v4 |
6 | g.33443153G>C | CA450103750 | SYNGAP1,SYNGAP1-AS1 | c.2343G>C (p.Gly781=) c.2601G>C (p.Gly867=) c.2559G>C (p.Gly853=) c.2424G>C (p.Gly808=) c.2556G>C (p.Gly852=) n.329+3453C>G | |
6 | g.33443153G>T | CA450103749 | SYNGAP1,SYNGAP1-AS1 | c.2343G>T (p.Gly781=) c.2601G>T (p.Gly867=) c.2559G>T (p.Gly853=) c.2424G>T (p.Gly808=) c.2556G>T (p.Gly852=) n.329+3453C>A | |
6 | g.33443154G>A | CA363626094 | SYNGAP1,SYNGAP1-AS1 | c.2344G>A (p.Asp782Asn) c.2602G>A (p.Asp868Asn) c.2560G>A (p.Asp854Asn) c.2425G>A (p.Asp809Asn) c.2557G>A (p.Asp853Asn) n.329+3452C>T | |
6 | g.33443154G>C | CA363626100 | SYNGAP1,SYNGAP1-AS1 | c.2344G>C (p.Asp782His) c.2602G>C (p.Asp868His) c.2560G>C (p.Asp854His) c.2425G>C (p.Asp809His) c.2557G>C (p.Asp853His) n.329+3452C>G | gnomAD v4 |
6 | g.33443154G>T | CA363626102 | SYNGAP1,SYNGAP1-AS1 | c.2344G>T (p.Asp782Tyr) c.2602G>T (p.Asp868Tyr) c.2560G>T (p.Asp854Tyr) c.2425G>T (p.Asp809Tyr) c.2557G>T (p.Asp853Tyr) n.329+3452C>A | |
6 | g.33443155A= | CA1620014520 | SYNGAP1,SYNGAP1-AS1 | c.2345A= (p.Asp782=) c.2603A= (p.Asp868=) c.2561A= (p.Asp854=) c.2426A= (p.Asp809=) c.2558A= (p.Asp853=) n.329+3451T= | |
6 | g.33443155A>C | CA363626106 | SYNGAP1,SYNGAP1-AS1 | c.2345A>C (p.Asp782Ala) c.2603A>C (p.Asp868Ala) c.2561A>C (p.Asp854Ala) c.2426A>C (p.Asp809Ala) c.2558A>C (p.Asp853Ala) n.329+3451T>G | |
6 | g.33443155A>G | CA363626111 | SYNGAP1,SYNGAP1-AS1 | c.2345A>G (p.Asp782Gly) c.2603A>G (p.Asp868Gly) c.2561A>G (p.Asp854Gly) c.2426A>G (p.Asp809Gly) c.2558A>G (p.Asp853Gly) n.329+3451T>C | dbSNP |
6 | g.33443155A>T | CA363626109 | SYNGAP1,SYNGAP1-AS1 | c.2345A>T (p.Asp782Val) c.2603A>T (p.Asp868Val) c.2561A>T (p.Asp854Val) c.2426A>T (p.Asp809Val) c.2558A>T (p.Asp853Val) n.329+3451T>A | |
6 | g.33443156C>A | CA363626114 | SYNGAP1,SYNGAP1-AS1 | c.2346C>A (p.Asp782Glu) c.2604C>A (p.Asp868Glu) c.2562C>A (p.Asp854Glu) c.2427C>A (p.Asp809Glu) c.2559C>A (p.Asp853Glu) n.329+3450G>T | |
6 | g.33443156C>G | CA363626116 | SYNGAP1,SYNGAP1-AS1 | c.2346C>G (p.Asp782Glu) c.2604C>G (p.Asp868Glu) c.2562C>G (p.Asp854Glu) c.2427C>G (p.Asp809Glu) c.2559C>G (p.Asp853Glu) n.329+3450G>C | |
6 | g.33443156C>T | CA450103752 | SYNGAP1,SYNGAP1-AS1 | c.2346C>T (p.Asp782=) c.2604C>T (p.Asp868=) c.2562C>T (p.Asp854=) c.2427C>T (p.Asp809=) c.2559C>T (p.Asp853=) n.329+3450G>A | |
6 | g.33443157C>A | CA363626118 | SYNGAP1,SYNGAP1-AS1 | c.2347C>A (p.Leu783Met) c.2605C>A (p.Leu869Met) c.2563C>A (p.Leu855Met) c.2428C>A (p.Leu810Met) c.2560C>A (p.Leu854Met) n.329+3449G>T | |
6 | g.33443157C>G | CA363626119 | SYNGAP1,SYNGAP1-AS1 | c.2347C>G (p.Leu783Val) c.2605C>G (p.Leu869Val) c.2563C>G (p.Leu855Val) c.2428C>G (p.Leu810Val) c.2560C>G (p.Leu854Val) n.329+3449G>C | |
6 | g.33443157C>T | CA450103753 | SYNGAP1,SYNGAP1-AS1 | c.2347C>T (p.Leu783=) c.2605C>T (p.Leu869=) c.2563C>T (p.Leu855=) c.2428C>T (p.Leu810=) c.2560C>T (p.Leu854=) n.329+3449G>A | |
6 | g.33443158T>A | CA363626123 | SYNGAP1,SYNGAP1-AS1 | c.2348T>A (p.Leu783Gln) c.2606T>A (p.Leu869Gln) c.2564T>A (p.Leu855Gln) c.2429T>A (p.Leu810Gln) c.2561T>A (p.Leu854Gln) n.329+3448A>T | |
6 | g.33443158T>C | CA363626120 | SYNGAP1,SYNGAP1-AS1 | c.2348T>C (p.Leu783Pro) c.2606T>C (p.Leu869Pro) c.2564T>C (p.Leu855Pro) c.2429T>C (p.Leu810Pro) c.2561T>C (p.Leu854Pro) n.329+3448A>G | |
6 | g.33443158T>G | CA363626121 | SYNGAP1,SYNGAP1-AS1 | c.2348T>G (p.Leu783Arg) c.2606T>G (p.Leu869Arg) c.2564T>G (p.Leu855Arg) c.2429T>G (p.Leu810Arg) c.2561T>G (p.Leu854Arg) n.329+3448A>C | |
6 | g.33443159G>A | CA450103754 | SYNGAP1,SYNGAP1-AS1 | c.2349G>A (p.Leu783=) c.2607G>A (p.Leu869=) c.2565G>A (p.Leu855=) c.2430G>A (p.Leu810=) c.2562G>A (p.Leu854=) n.329+3447C>T | |
6 | g.33443159G>C | CA450103756 | SYNGAP1,SYNGAP1-AS1 | c.2349G>C (p.Leu783=) c.2607G>C (p.Leu869=) c.2565G>C (p.Leu855=) c.2430G>C (p.Leu810=) c.2562G>C (p.Leu854=) n.329+3447C>G | |
6 | g.33443159G>T | CA450103755 | SYNGAP1,SYNGAP1-AS1 | c.2349G>T (p.Leu783=) c.2607G>T (p.Leu869=) c.2565G>T (p.Leu855=) c.2430G>T (p.Leu810=) c.2562G>T (p.Leu854=) n.329+3447C>A | |
6 | g.33443160C>A | CA363626126 | SYNGAP1,SYNGAP1-AS1 | c.2350C>A (p.Leu784Met) c.2608C>A (p.Leu870Met) c.2566C>A (p.Leu856Met) c.2431C>A (p.Leu811Met) c.2563C>A (p.Leu855Met) n.329+3446G>T | |
6 | g.33443160C= | CA1620014521 | SYNGAP1,SYNGAP1-AS1 | c.2350C= (p.Leu784=) c.2608C= (p.Leu870=) c.2566C= (p.Leu856=) c.2431C= (p.Leu811=) c.2563C= (p.Leu855=) n.329+3446G= | |
6 | g.33443160C>G | CA363626129 | SYNGAP1,SYNGAP1-AS1 | c.2350C>G (p.Leu784Val) c.2608C>G (p.Leu870Val) c.2566C>G (p.Leu856Val) c.2431C>G (p.Leu811Val) c.2563C>G (p.Leu855Val) n.329+3446G>C | ClinVar dbSNP |
6 | g.33443160C>T | CA450103757 | SYNGAP1,SYNGAP1-AS1 | c.2350C>T (p.Leu784=) c.2608C>T (p.Leu870=) c.2566C>T (p.Leu856=) c.2431C>T (p.Leu811=) c.2563C>T (p.Leu855=) n.329+3446G>A | |
6 | g.33443161T>A | CA363626131 | SYNGAP1,SYNGAP1-AS1 | c.2351T>A (p.Leu784Gln) c.2609T>A (p.Leu870Gln) c.2567T>A (p.Leu856Gln) c.2432T>A (p.Leu811Gln) c.2564T>A (p.Leu855Gln) n.329+3445A>T | |
6 | g.33443161T>C | CA363626133 | SYNGAP1,SYNGAP1-AS1 | c.2351T>C (p.Leu784Pro) c.2609T>C (p.Leu870Pro) c.2567T>C (p.Leu856Pro) c.2432T>C (p.Leu811Pro) c.2564T>C (p.Leu855Pro) n.329+3445A>G | |
6 | g.33443161T>G | CA363626136 | SYNGAP1,SYNGAP1-AS1 | c.2351T>G (p.Leu784Arg) c.2609T>G (p.Leu870Arg) c.2567T>G (p.Leu856Arg) c.2432T>G (p.Leu811Arg) c.2564T>G (p.Leu855Arg) n.329+3445A>C | |
6 | g.33443162G>A | CA450103758 | SYNGAP1,SYNGAP1-AS1 | c.2352G>A (p.Leu784=) c.2610G>A (p.Leu870=) c.2568G>A (p.Leu856=) c.2433G>A (p.Leu811=) c.2565G>A (p.Leu855=) n.329+3444C>T | gnomAD v4 |
6 | g.33443162G>C | CA450103759 | SYNGAP1,SYNGAP1-AS1 | c.2352G>C (p.Leu784=) c.2610G>C (p.Leu870=) c.2568G>C (p.Leu856=) c.2433G>C (p.Leu811=) c.2565G>C (p.Leu855=) n.329+3444C>G | |
6 | g.33443162G>T | CA450103760 | SYNGAP1,SYNGAP1-AS1 | c.2352G>T (p.Leu784=) c.2610G>T (p.Leu870=) c.2568G>T (p.Leu856=) c.2433G>T (p.Leu811=) c.2565G>T (p.Leu855=) n.329+3444C>A | |
6 | g.33443163C>A | CA363626137 | SYNGAP1,SYNGAP1-AS1 | c.2353C>A (p.His785Asn) c.2611C>A (p.His871Asn) c.2569C>A (p.His857Asn) c.2434C>A (p.His812Asn) c.2566C>A (p.His856Asn) n.329+3443G>T | |
6 | g.33443163C>G | CA363626139 | SYNGAP1,SYNGAP1-AS1 | c.2353C>G (p.His785Asp) c.2611C>G (p.His871Asp) c.2569C>G (p.His857Asp) c.2434C>G (p.His812Asp) c.2566C>G (p.His856Asp) n.329+3443G>C | |
6 | g.33443163C>T | CA363626141 | SYNGAP1,SYNGAP1-AS1 | c.2353C>T (p.His785Tyr) c.2611C>T (p.His871Tyr) c.2569C>T (p.His857Tyr) c.2434C>T (p.His812Tyr) c.2566C>T (p.His856Tyr) n.329+3443G>A | |
6 | g.33443164A>C | CA363626144 | SYNGAP1,SYNGAP1-AS1 | c.2354A>C (p.His785Pro) c.2612A>C (p.His871Pro) c.2570A>C (p.His857Pro) c.2435A>C (p.His812Pro) c.2567A>C (p.His856Pro) n.329+3442T>G | |
6 | g.33443164A>G | CA363626146 | SYNGAP1,SYNGAP1-AS1 | c.2354A>G (p.His785Arg) c.2612A>G (p.His871Arg) c.2570A>G (p.His857Arg) c.2435A>G (p.His812Arg) c.2567A>G (p.His856Arg) n.329+3442T>C | |
6 | g.33443164A>T | CA363626148 | SYNGAP1,SYNGAP1-AS1 | c.2354A>T (p.His785Leu) c.2612A>T (p.His871Leu) c.2570A>T (p.His857Leu) c.2435A>T (p.His812Leu) c.2567A>T (p.His856Leu) n.329+3442T>A | |
6 | g.33443165C>A | CA363626151 | SYNGAP1,SYNGAP1-AS1 | c.2355C>A (p.His785Gln) c.2613C>A (p.His871Gln) c.2571C>A (p.His857Gln) c.2436C>A (p.His812Gln) c.2568C>A (p.His856Gln) n.329+3441G>T | |
6 | g.33443165C>G | CA363626154 | SYNGAP1,SYNGAP1-AS1 | c.2355C>G (p.His785Gln) c.2613C>G (p.His871Gln) c.2571C>G (p.His857Gln) c.2436C>G (p.His812Gln) c.2568C>G (p.His856Gln) n.329+3441G>C | gnomAD v4 |
6 | g.33443165C>T | CA450103761 | SYNGAP1,SYNGAP1-AS1 | c.2355C>T (p.His785=) c.2613C>T (p.His871=) c.2571C>T (p.His857=) c.2436C>T (p.His812=) c.2568C>T (p.His856=) n.329+3441G>A | |
6 | g.33443166T>A | CA363626161 | SYNGAP1,SYNGAP1-AS1 | c.2356T>A (p.Ser786Thr) c.2614T>A (p.Ser872Thr) c.2572T>A (p.Ser858Thr) c.2437T>A (p.Ser813Thr) c.2569T>A (p.Ser857Thr) n.329+3440A>T | |
6 | g.33443166T>C | CA363626157 | SYNGAP1,SYNGAP1-AS1 | c.2356T>C (p.Ser786Pro) c.2614T>C (p.Ser872Pro) c.2572T>C (p.Ser858Pro) c.2437T>C (p.Ser813Pro) c.2569T>C (p.Ser857Pro) n.329+3440A>G | |
6 | g.33443166T>G | CA363626159 | SYNGAP1,SYNGAP1-AS1 | c.2356T>G (p.Ser786Ala) c.2614T>G (p.Ser872Ala) c.2572T>G (p.Ser858Ala) c.2437T>G (p.Ser813Ala) c.2569T>G (p.Ser857Ala) n.329+3440A>C | |
6 | g.33443167C>A | CA363626163 | SYNGAP1,SYNGAP1-AS1 | c.2357C>A (p.Ser786Ter) c.2615C>A (p.Ser872Ter) c.2573C>A (p.Ser858Ter) c.2438C>A (p.Ser813Ter) c.2570C>A (p.Ser857Ter) n.329+3439G>T | |
6 | g.33443167C>G | CA363626166 | SYNGAP1,SYNGAP1-AS1 | c.2357C>G (p.Ser786Ter) c.2615C>G (p.Ser872Ter) c.2573C>G (p.Ser858Ter) c.2438C>G (p.Ser813Ter) c.2570C>G (p.Ser857Ter) n.329+3439G>C | |
6 | g.33443167C>T | CA363626168 | SYNGAP1,SYNGAP1-AS1 | c.2357C>T (p.Ser786Leu) c.2615C>T (p.Ser872Leu) c.2573C>T (p.Ser858Leu) c.2438C>T (p.Ser813Leu) c.2570C>T (p.Ser857Leu) n.329+3439G>A | |
6 | g.33443168A>C | CA450103764 | SYNGAP1,SYNGAP1-AS1 | c.2358A>C (p.Ser786=) c.2616A>C (p.Ser872=) c.2574A>C (p.Ser858=) c.2439A>C (p.Ser813=) c.2571A>C (p.Ser857=) n.329+3438T>G | |
6 | g.33443168A>G | CA450103763 | SYNGAP1,SYNGAP1-AS1 | c.2358A>G (p.Ser786=) c.2616A>G (p.Ser872=) c.2574A>G (p.Ser858=) c.2439A>G (p.Ser813=) c.2571A>G (p.Ser857=) n.329+3438T>C | |
6 | g.33443168A>T | CA450103762 | SYNGAP1,SYNGAP1-AS1 | c.2358A>T (p.Ser786=) c.2616A>T (p.Ser872=) c.2574A>T (p.Ser858=) c.2439A>T (p.Ser813=) c.2571A>T (p.Ser857=) n.329+3438T>A | |
6 | g.33443169A= | CA1620014522 | SYNGAP1,SYNGAP1-AS1 | c.2359A= (p.Ser787=) c.2617A= (p.Ser873=) c.2575A= (p.Ser859=) c.2440A= (p.Ser814=) c.2572A= (p.Ser858=) n.329+3437T= | |
6 | g.33443169A>C | CA363626170 | SYNGAP1,SYNGAP1-AS1 | c.2359A>C (p.Ser787Arg) c.2617A>C (p.Ser873Arg) c.2575A>C (p.Ser859Arg) c.2440A>C (p.Ser814Arg) c.2572A>C (p.Ser858Arg) n.329+3437T>G | |
6 | g.33443169A>G | CA363626172 | SYNGAP1,SYNGAP1-AS1 | c.2359A>G (p.Ser787Gly) c.2617A>G (p.Ser873Gly) c.2575A>G (p.Ser859Gly) c.2440A>G (p.Ser814Gly) c.2572A>G (p.Ser858Gly) n.329+3437T>C | gnomAD v4 |
6 | g.33443169A>T | CA363626174 | SYNGAP1,SYNGAP1-AS1 | c.2359A>T (p.Ser787Cys) c.2617A>T (p.Ser873Cys) c.2575A>T (p.Ser859Cys) c.2440A>T (p.Ser814Cys) c.2572A>T (p.Ser858Cys) n.329+3437T>A | |
6 | g.33443170G>A | CA363626181 | SYNGAP1,SYNGAP1-AS1 | c.2360G>A (p.Ser787Asn) c.2618G>A (p.Ser873Asn) c.2576G>A (p.Ser859Asn) c.2441G>A (p.Ser814Asn) c.2573G>A (p.Ser858Asn) n.329+3436C>T | dbSNP gnomAD v2 |
6 | g.33443170G>C | CA363626177 | SYNGAP1,SYNGAP1-AS1 | c.2360G>C (p.Ser787Thr) c.2618G>C (p.Ser873Thr) c.2576G>C (p.Ser859Thr) c.2441G>C (p.Ser814Thr) c.2573G>C (p.Ser858Thr) n.329+3436C>G | |
6 | g.33443170G= | CA1620014523 | SYNGAP1,SYNGAP1-AS1 | c.2360G= (p.Ser787=) c.2618G= (p.Ser873=) c.2576G= (p.Ser859=) c.2441G= (p.Ser814=) c.2573G= (p.Ser858=) n.329+3436C= | |
6 | g.33443170G>T | CA363626178 | SYNGAP1,SYNGAP1-AS1 | c.2360G>T (p.Ser787Ile) c.2618G>T (p.Ser873Ile) c.2576G>T (p.Ser859Ile) c.2441G>T (p.Ser814Ile) c.2573G>T (p.Ser858Ile) n.329+3436C>A | |
6 | g.33443173_33443177dup | CA1139659340 | SYNGAP1,SYNGAP1-AS1 | c.2363_2367dup (p.Ser790ArgfsTer4) c.2621_2625dup (p.Ser876ArgfsTer4) c.2579_2583dup (p.Ser862ArgfsTer4) c.2444_2448dup (p.Ser817ArgfsTer4) c.2576_2580dup (p.Ser861ArgfsTer4) n.329+3432_329+3436dup | ClinVar dbSNP |
6 | g.33443171C>A | CA363626185 | SYNGAP1,SYNGAP1-AS1 | c.2361C>A (p.Ser787Arg) c.2619C>A (p.Ser873Arg) c.2577C>A (p.Ser859Arg) c.2442C>A (p.Ser814Arg) c.2574C>A (p.Ser858Arg) n.329+3435G>T | |
6 | g.33443171C>G | CA363626186 | SYNGAP1,SYNGAP1-AS1 | c.2361C>G (p.Ser787Arg) c.2619C>G (p.Ser873Arg) c.2577C>G (p.Ser859Arg) c.2442C>G (p.Ser814Arg) c.2574C>G (p.Ser858Arg) n.329+3435G>C | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.33443171C>T | CA450103765 | SYNGAP1,SYNGAP1-AS1 | c.2361C>T (p.Ser787=) c.2619C>T (p.Ser873=) c.2577C>T (p.Ser859=) c.2442C>T (p.Ser814=) c.2574C>T (p.Ser858=) n.329+3435G>A | |
6 | g.33443172C>A | CA363626189 | SYNGAP1,SYNGAP1-AS1 | c.2362C>A (p.Gln788Lys) c.2620C>A (p.Gln874Lys) c.2578C>A (p.Gln860Lys) c.2443C>A (p.Gln815Lys) c.2575C>A (p.Gln859Lys) n.329+3434G>T | |
6 | g.33443172C= | CA1620014524 | SYNGAP1,SYNGAP1-AS1 | c.2362C= (p.Gln788=) c.2620C= (p.Gln874=) c.2578C= (p.Gln860=) c.2443C= (p.Gln815=) c.2575C= (p.Gln859=) n.329+3434G= | |
6 | g.33443172C>G | CA363626192 | SYNGAP1,SYNGAP1-AS1 | c.2362C>G (p.Gln788Glu) c.2620C>G (p.Gln874Glu) c.2578C>G (p.Gln860Glu) c.2443C>G (p.Gln815Glu) c.2575C>G (p.Gln859Glu) n.329+3434G>C | |
6 | g.33443172C>T | CA363626193 | SYNGAP1,SYNGAP1-AS1 | c.2362C>T (p.Gln788Ter) c.2620C>T (p.Gln874Ter) c.2578C>T (p.Gln860Ter) c.2443C>T (p.Gln815Ter) c.2575C>T (p.Gln859Ter) n.329+3434G>A | dbSNP |
6 | g.33443173A= | CA1620014525 | SYNGAP1,SYNGAP1-AS1 | c.2363A= (p.Gln788=) c.2621A= (p.Gln874=) c.2579A= (p.Gln860=) c.2444A= (p.Gln815=) c.2576A= (p.Gln859=) n.329+3433T= | |
6 | g.33443173A>C | CA363626202 | SYNGAP1,SYNGAP1-AS1 | c.2363A>C (p.Gln788Pro) c.2621A>C (p.Gln874Pro) c.2579A>C (p.Gln860Pro) c.2444A>C (p.Gln815Pro) c.2576A>C (p.Gln859Pro) n.329+3433T>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443173A>G | CA363626197 | SYNGAP1,SYNGAP1-AS1 | c.2363A>G (p.Gln788Arg) c.2621A>G (p.Gln874Arg) c.2579A>G (p.Gln860Arg) c.2444A>G (p.Gln815Arg) c.2576A>G (p.Gln859Arg) n.329+3433T>C | |
6 | g.33443173A>T | CA363626199 | SYNGAP1,SYNGAP1-AS1 | c.2363A>T (p.Gln788Leu) c.2621A>T (p.Gln874Leu) c.2579A>T (p.Gln860Leu) c.2444A>T (p.Gln815Leu) c.2576A>T (p.Gln859Leu) n.329+3433T>A | |
6 | g.33443174G>A | CA450103766 | SYNGAP1,SYNGAP1-AS1 | c.2364G>A (p.Gln788=) c.2622G>A (p.Gln874=) c.2580G>A (p.Gln860=) c.2445G>A (p.Gln815=) c.2577G>A (p.Gln859=) n.329+3432C>T | |
6 | g.33443174G>C | CA363626204 | SYNGAP1,SYNGAP1-AS1 | c.2364G>C (p.Gln788His) c.2622G>C (p.Gln874His) c.2580G>C (p.Gln860His) c.2445G>C (p.Gln815His) c.2577G>C (p.Gln859His) n.329+3432C>G | |
6 | g.33443174G>T | CA363626206 | SYNGAP1,SYNGAP1-AS1 | c.2364G>T (p.Gln788His) c.2622G>T (p.Gln874His) c.2580G>T (p.Gln860His) c.2445G>T (p.Gln815His) c.2577G>T (p.Gln859His) n.329+3432C>A | |
6 | g.33443175G>A | CA363626209 | SYNGAP1,SYNGAP1-AS1 | c.2365G>A (p.Ala789Thr) c.2623G>A (p.Ala875Thr) c.2581G>A (p.Ala861Thr) c.2446G>A (p.Ala816Thr) c.2578G>A (p.Ala860Thr) n.329+3431C>T | gnomAD v4 |
6 | g.33443175G>C | CA363626212 | SYNGAP1,SYNGAP1-AS1 | c.2365G>C (p.Ala789Pro) c.2623G>C (p.Ala875Pro) c.2581G>C (p.Ala861Pro) c.2446G>C (p.Ala816Pro) c.2578G>C (p.Ala860Pro) n.329+3431C>G | dbSNP |
6 | g.33443175G= | CA1620014526 | SYNGAP1,SYNGAP1-AS1 | c.2365G= (p.Ala789=) c.2623G= (p.Ala875=) c.2581G= (p.Ala861=) c.2446G= (p.Ala816=) c.2578G= (p.Ala860=) n.329+3431C= | |
6 | g.33443175G>T | CA363626214 | SYNGAP1,SYNGAP1-AS1 | c.2365G>T (p.Ala789Ser) c.2623G>T (p.Ala875Ser) c.2581G>T (p.Ala861Ser) c.2446G>T (p.Ala816Ser) c.2578G>T (p.Ala860Ser) n.329+3431C>A | |
6 | g.33443176C>A | CA363626216 | SYNGAP1,SYNGAP1-AS1 | c.2366C>A (p.Ala789Asp) c.2624C>A (p.Ala875Asp) c.2582C>A (p.Ala861Asp) c.2447C>A (p.Ala816Asp) c.2579C>A (p.Ala860Asp) n.329+3430G>T | |
6 | g.33443176C>G | CA363626219 | SYNGAP1,SYNGAP1-AS1 | c.2366C>G (p.Ala789Gly) c.2624C>G (p.Ala875Gly) c.2582C>G (p.Ala861Gly) c.2447C>G (p.Ala816Gly) c.2579C>G (p.Ala860Gly) n.329+3430G>C | |
6 | g.33443176C>T | CA363626221 | SYNGAP1,SYNGAP1-AS1 | c.2366C>T (p.Ala789Val) c.2624C>T (p.Ala875Val) c.2582C>T (p.Ala861Val) c.2447C>T (p.Ala816Val) c.2579C>T (p.Ala860Val) n.329+3430G>A | |
6 | g.33443177C>A | CA450103767 | SYNGAP1,SYNGAP1-AS1 | c.2367C>A (p.Ala789=) c.2625C>A (p.Ala875=) c.2583C>A (p.Ala861=) c.2448C>A (p.Ala816=) c.2580C>A (p.Ala860=) n.329+3429G>T | |
6 | g.33443177C= | CA1620014527 | SYNGAP1,SYNGAP1-AS1 | c.2367C= (p.Ala789=) c.2625C= (p.Ala875=) c.2583C= (p.Ala861=) c.2448C= (p.Ala816=) c.2580C= (p.Ala860=) n.329+3429G= | |
6 | g.33443177C>G | CA450103768 | SYNGAP1,SYNGAP1-AS1 | c.2367C>G (p.Ala789=) c.2625C>G (p.Ala875=) c.2583C>G (p.Ala861=) c.2448C>G (p.Ala816=) c.2580C>G (p.Ala860=) n.329+3429G>C | |
6 | g.33443177C>T | CA3758927 | SYNGAP1,SYNGAP1-AS1 | c.2367C>T (p.Ala789=) c.2625C>T (p.Ala875=) c.2583C>T (p.Ala861=) c.2448C>T (p.Ala816=) c.2580C>T (p.Ala860=) n.329+3429G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443178T>A | CA363626228 | SYNGAP1,SYNGAP1-AS1 | c.2368T>A (p.Ser790Thr) c.2626T>A (p.Ser876Thr) c.2584T>A (p.Ser862Thr) c.2449T>A (p.Ser817Thr) c.2581T>A (p.Ser861Thr) n.329+3428A>T | |
6 | g.33443178T>C | CA363626230 | SYNGAP1,SYNGAP1-AS1 | c.2368T>C (p.Ser790Pro) c.2626T>C (p.Ser876Pro) c.2584T>C (p.Ser862Pro) c.2449T>C (p.Ser817Pro) c.2581T>C (p.Ser861Pro) n.329+3428A>G | |
6 | g.33443178T>G | CA363626231 | SYNGAP1,SYNGAP1-AS1 | c.2368T>G (p.Ser790Ala) c.2626T>G (p.Ser876Ala) c.2584T>G (p.Ser862Ala) c.2449T>G (p.Ser817Ala) c.2581T>G (p.Ser861Ala) n.329+3428A>C | |
6 | g.33443179C>A | CA363626233 | SYNGAP1,SYNGAP1-AS1 | c.2369C>A (p.Ser790Ter) c.2627C>A (p.Ser876Ter) c.2585C>A (p.Ser862Ter) c.2450C>A (p.Ser817Ter) c.2582C>A (p.Ser861Ter) n.329+3427G>T | |
6 | g.33443179C>G | CA363626237 | SYNGAP1,SYNGAP1-AS1 | c.2369C>G (p.Ser790Trp) c.2627C>G (p.Ser876Trp) c.2585C>G (p.Ser862Trp) c.2450C>G (p.Ser817Trp) c.2582C>G (p.Ser861Trp) n.329+3427G>C | gnomAD v4 |
6 | g.33443179C>T | CA363626234 | SYNGAP1,SYNGAP1-AS1 | c.2369C>T (p.Ser790Leu) c.2627C>T (p.Ser876Leu) c.2585C>T (p.Ser862Leu) c.2450C>T (p.Ser817Leu) c.2582C>T (p.Ser861Leu) n.329+3427G>A | ClinVar |
6 | g.33443180G>A | CA3758928 | SYNGAP1,SYNGAP1-AS1 | c.2370G>A (p.Ser790=) c.2628G>A (p.Ser876=) c.2586G>A (p.Ser862=) c.2451G>A (p.Ser817=) c.2583G>A (p.Ser861=) n.329+3426C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443180G>C | CA450103769 | SYNGAP1,SYNGAP1-AS1 | c.2370G>C (p.Ser790=) c.2628G>C (p.Ser876=) c.2586G>C (p.Ser862=) c.2451G>C (p.Ser817=) c.2583G>C (p.Ser861=) n.329+3426C>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443180G= | CA1620014528 | SYNGAP1,SYNGAP1-AS1 | c.2370G= (p.Ser790=) c.2628G= (p.Ser876=) c.2586G= (p.Ser862=) c.2451G= (p.Ser817=) c.2583G= (p.Ser861=) n.329+3426C= | |
6 | g.33443180G>T | CA450103770 | SYNGAP1,SYNGAP1-AS1 | c.2370G>T (p.Ser790=) c.2628G>T (p.Ser876=) c.2586G>T (p.Ser862=) c.2451G>T (p.Ser817=) c.2583G>T (p.Ser861=) n.329+3426C>A | |
6 | g.33443181C>A | CA363626246 | SYNGAP1,SYNGAP1-AS1 | c.2371C>A (p.Leu791Met) c.2629C>A (p.Leu877Met) c.2587C>A (p.Leu863Met) c.2452C>A (p.Leu818Met) c.2584C>A (p.Leu862Met) n.329+3425G>T | |
6 | g.33443181C= | CA1620014529 | SYNGAP1,SYNGAP1-AS1 | c.2371C= (p.Leu791=) c.2629C= (p.Leu877=) c.2587C= (p.Leu863=) c.2452C= (p.Leu818=) c.2584C= (p.Leu862=) n.329+3425G= | |
6 | g.33443181C>G | CA363626243 | SYNGAP1,SYNGAP1-AS1 | c.2371C>G (p.Leu791Val) c.2629C>G (p.Leu877Val) c.2587C>G (p.Leu863Val) c.2452C>G (p.Leu818Val) c.2584C>G (p.Leu862Val) n.329+3425G>C | |
6 | g.33443181C>T | CA450103771 | SYNGAP1,SYNGAP1-AS1 | c.2371C>T (p.Leu791=) c.2629C>T (p.Leu877=) c.2587C>T (p.Leu863=) c.2452C>T (p.Leu818=) c.2584C>T (p.Leu862=) n.329+3425G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443181_33443182del | CA2695202918 | SYNGAP1,SYNGAP1-AS1 | c.2371_2372del (p.Leu791AspfsTer?) c.2629_2630del (p.Leu877AspfsTer?) c.2587_2588del (p.Leu863AspfsTer?) c.2452_2453del (p.Leu818AspfsTer?) c.2584_2585del (p.Leu862AspfsTer?) n.329+3424_329+3425del | |
6 | g.33443182T>A | CA363626248 | SYNGAP1,SYNGAP1-AS1 | c.2372T>A (p.Leu791Gln) c.2630T>A (p.Leu877Gln) c.2588T>A (p.Leu863Gln) c.2453T>A (p.Leu818Gln) c.2585T>A (p.Leu862Gln) n.329+3424A>T | |
6 | g.33443182T>C | CA363626251 | SYNGAP1,SYNGAP1-AS1 | c.2372T>C (p.Leu791Pro) c.2630T>C (p.Leu877Pro) c.2588T>C (p.Leu863Pro) c.2453T>C (p.Leu818Pro) c.2585T>C (p.Leu862Pro) n.329+3424A>G | |
6 | g.33443182T>G | CA363626253 | SYNGAP1,SYNGAP1-AS1 | c.2372T>G (p.Leu791Arg) c.2630T>G (p.Leu877Arg) c.2588T>G (p.Leu863Arg) c.2453T>G (p.Leu818Arg) c.2585T>G (p.Leu862Arg) n.329+3424A>C | |
6 | g.33443182dup | CA658761547 | SYNGAP1,SYNGAP1-AS1 | c.2372dup (p.Thr792AspfsTer?) c.2630dup (p.Thr878AspfsTer?) c.2588dup (p.Thr864AspfsTer?) c.2453dup (p.Thr819AspfsTer?) c.2585dup (p.Thr863AspfsTer?) n.329+3424dup | |
6 | g.33443183G>A | CA450103772 | SYNGAP1,SYNGAP1-AS1 | c.2373G>A (p.Leu791=) c.2631G>A (p.Leu877=) c.2589G>A (p.Leu863=) c.2454G>A (p.Leu818=) c.2586G>A (p.Leu862=) n.329+3423C>T | |
6 | g.33443183G>C | CA450103773 | SYNGAP1,SYNGAP1-AS1 | c.2373G>C (p.Leu791=) c.2631G>C (p.Leu877=) c.2589G>C (p.Leu863=) c.2454G>C (p.Leu818=) c.2586G>C (p.Leu862=) n.329+3423C>G | |
6 | g.33443183G>T | CA450103774 | SYNGAP1,SYNGAP1-AS1 | c.2373G>T (p.Leu791=) c.2631G>T (p.Leu877=) c.2589G>T (p.Leu863=) c.2454G>T (p.Leu818=) c.2586G>T (p.Leu862=) n.329+3423C>A | |
6 | g.33443184A>C | CA363626256 | SYNGAP1,SYNGAP1-AS1 | c.2374A>C (p.Thr792Pro) c.2632A>C (p.Thr878Pro) c.2590A>C (p.Thr864Pro) c.2455A>C (p.Thr819Pro) c.2587A>C (p.Thr863Pro) n.329+3422T>G | |
6 | g.33443184A>G | CA363626259 | SYNGAP1,SYNGAP1-AS1 | c.2374A>G (p.Thr792Ala) c.2632A>G (p.Thr878Ala) c.2590A>G (p.Thr864Ala) c.2455A>G (p.Thr819Ala) c.2587A>G (p.Thr863Ala) n.329+3422T>C | ClinVar |
6 | g.33443184A>T | CA363626261 | SYNGAP1,SYNGAP1-AS1 | c.2374A>T (p.Thr792Ser) c.2632A>T (p.Thr878Ser) c.2590A>T (p.Thr864Ser) c.2455A>T (p.Thr819Ser) c.2587A>T (p.Thr863Ser) n.329+3422T>A | |
6 | g.33443185C>A | CA363626265 | SYNGAP1,SYNGAP1-AS1 | c.2375C>A (p.Thr792Lys) c.2633C>A (p.Thr878Lys) c.2591C>A (p.Thr864Lys) c.2456C>A (p.Thr819Lys) c.2588C>A (p.Thr863Lys) n.329+3421G>T | |
6 | g.33443185C>G | CA363626276 | SYNGAP1,SYNGAP1-AS1 | c.2375C>G (p.Thr792Arg) c.2633C>G (p.Thr878Arg) c.2591C>G (p.Thr864Arg) c.2456C>G (p.Thr819Arg) c.2588C>G (p.Thr863Arg) n.329+3421G>C | |
6 | g.33443185C>T | CA363626278 | SYNGAP1,SYNGAP1-AS1 | c.2375C>T (p.Thr792Ile) c.2633C>T (p.Thr878Ile) c.2591C>T (p.Thr864Ile) c.2456C>T (p.Thr819Ile) c.2588C>T (p.Thr863Ile) n.329+3421G>A | |
6 | g.33443186A>C | CA450103775 | SYNGAP1,SYNGAP1-AS1 | c.2376A>C (p.Thr792=) c.2634A>C (p.Thr878=) c.2592A>C (p.Thr864=) c.2457A>C (p.Thr819=) c.2589A>C (p.Thr863=) n.329+3420T>G | |
6 | g.33443186A>G | CA450103776 | SYNGAP1,SYNGAP1-AS1 | c.2376A>G (p.Thr792=) c.2634A>G (p.Thr878=) c.2592A>G (p.Thr864=) c.2457A>G (p.Thr819=) c.2589A>G (p.Thr863=) n.329+3420T>C | |
6 | g.33443186A>T | CA450103777 | SYNGAP1,SYNGAP1-AS1 | c.2376A>T (p.Thr792=) c.2634A>T (p.Thr878=) c.2592A>T (p.Thr864=) c.2457A>T (p.Thr819=) c.2589A>T (p.Thr863=) n.329+3420T>A | |
6 | g.33443187G>A | CA363626282 | SYNGAP1,SYNGAP1-AS1 | c.2377G>A (p.Ala793Thr) c.2635G>A (p.Ala879Thr) c.2593G>A (p.Ala865Thr) c.2458G>A (p.Ala820Thr) c.2590G>A (p.Ala864Thr) n.329+3419C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443187G>C | CA363626284 | SYNGAP1,SYNGAP1-AS1 | c.2377G>C (p.Ala793Pro) c.2635G>C (p.Ala879Pro) c.2593G>C (p.Ala865Pro) c.2458G>C (p.Ala820Pro) c.2590G>C (p.Ala864Pro) n.329+3419C>G | |
6 | g.33443187G= | CA1620014530 | SYNGAP1,SYNGAP1-AS1 | c.2377G= (p.Ala793=) c.2635G= (p.Ala879=) c.2593G= (p.Ala865=) c.2458G= (p.Ala820=) c.2590G= (p.Ala864=) n.329+3419C= | |
6 | g.33443187G>T | CA363626287 | SYNGAP1,SYNGAP1-AS1 | c.2377G>T (p.Ala793Ser) c.2635G>T (p.Ala879Ser) c.2593G>T (p.Ala865Ser) c.2458G>T (p.Ala820Ser) c.2590G>T (p.Ala864Ser) n.329+3419C>A | |
6 | g.33443187_33443188delinsAA | CA891843216 | SYNGAP1,SYNGAP1-AS1 | c.2377_2378delinsAA (p.Ala793Lys) c.2635_2636delinsAA (p.Ala879Lys) c.2593_2594delinsAA (p.Ala865Lys) c.2458_2459delinsAA (p.Ala820Lys) c.2590_2591delinsAA (p.Ala864Lys) n.329+3418_329+3419delinsTT | ClinVar dbSNP |
6 | g.33443187_33443188delinsGC | CA1620014531 | SYNGAP1,SYNGAP1-AS1 | c.2377_2378delinsGC (p.Ala793=) c.2635_2636delinsGC (p.Ala879=) c.2593_2594delinsGC (p.Ala865=) c.2458_2459delinsGC (p.Ala820=) c.2590_2591delinsGC (p.Ala864=) n.329+3418_329+3419delinsGC | |
6 | g.33443188C>A | CA363626299 | SYNGAP1,SYNGAP1-AS1 | c.2378C>A (p.Ala793Glu) c.2636C>A (p.Ala879Glu) c.2594C>A (p.Ala865Glu) c.2459C>A (p.Ala820Glu) c.2591C>A (p.Ala864Glu) n.329+3418G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443188C= | CA1620014532 | SYNGAP1,SYNGAP1-AS1 | c.2378C= (p.Ala793=) c.2636C= (p.Ala879=) c.2594C= (p.Ala865=) c.2459C= (p.Ala820=) c.2591C= (p.Ala864=) n.329+3418G= | |
6 | g.33443188C>G | CA363626305 | SYNGAP1,SYNGAP1-AS1 | c.2378C>G (p.Ala793Gly) c.2636C>G (p.Ala879Gly) c.2594C>G (p.Ala865Gly) c.2459C>G (p.Ala820Gly) c.2591C>G (p.Ala864Gly) n.329+3418G>C | gnomAD v4 |
6 | g.33443188C>T | CA363626301 | SYNGAP1,SYNGAP1-AS1 | c.2378C>T (p.Ala793Val) c.2636C>T (p.Ala879Val) c.2594C>T (p.Ala865Val) c.2459C>T (p.Ala820Val) c.2591C>T (p.Ala864Val) n.329+3418G>A | |
6 | g.33443189A>C | CA450103780 | SYNGAP1,SYNGAP1-AS1 | c.2379A>C (p.Ala793=) c.2637A>C (p.Ala879=) c.2595A>C (p.Ala865=) c.2460A>C (p.Ala820=) c.2592A>C (p.Ala864=) n.329+3417T>G | |
6 | g.33443189A>G | CA450103779 | SYNGAP1,SYNGAP1-AS1 | c.2379A>G (p.Ala793=) c.2637A>G (p.Ala879=) c.2595A>G (p.Ala865=) c.2460A>G (p.Ala820=) c.2592A>G (p.Ala864=) n.329+3417T>C | |
6 | g.33443189A>T | CA450103778 | SYNGAP1,SYNGAP1-AS1 | c.2379A>T (p.Ala793=) c.2637A>T (p.Ala879=) c.2595A>T (p.Ala865=) c.2460A>T (p.Ala820=) c.2592A>T (p.Ala864=) n.329+3417T>A | |
6 | g.33443190G>A | CA363626310 | SYNGAP1,SYNGAP1-AS1 | c.2380G>A (p.Ala794Thr) c.2638G>A (p.Ala880Thr) c.2596G>A (p.Ala866Thr) c.2461G>A (p.Ala821Thr) c.2593G>A (p.Ala865Thr) n.329+3416C>T | |
6 | g.33443190G>C | CA363626313 | SYNGAP1,SYNGAP1-AS1 | c.2380G>C (p.Ala794Pro) c.2638G>C (p.Ala880Pro) c.2596G>C (p.Ala866Pro) c.2461G>C (p.Ala821Pro) c.2593G>C (p.Ala865Pro) n.329+3416C>G | |
6 | g.33443190G>T | CA363626315 | SYNGAP1,SYNGAP1-AS1 | c.2380G>T (p.Ala794Ser) c.2638G>T (p.Ala880Ser) c.2596G>T (p.Ala866Ser) c.2461G>T (p.Ala821Ser) c.2593G>T (p.Ala865Ser) n.329+3416C>A | |
6 | g.33443191C>A | CA363626319 | SYNGAP1,SYNGAP1-AS1 | c.2381C>A (p.Ala794Asp) c.2639C>A (p.Ala880Asp) c.2597C>A (p.Ala866Asp) c.2462C>A (p.Ala821Asp) c.2594C>A (p.Ala865Asp) n.329+3415G>T | |
6 | g.33443191C>G | CA363626325 | SYNGAP1,SYNGAP1-AS1 | c.2381C>G (p.Ala794Gly) c.2639C>G (p.Ala880Gly) c.2597C>G (p.Ala866Gly) c.2462C>G (p.Ala821Gly) c.2594C>G (p.Ala865Gly) n.329+3415G>C | gnomAD v4 |
6 | g.33443191C>T | CA363626327 | SYNGAP1,SYNGAP1-AS1 | c.2381C>T (p.Ala794Val) c.2639C>T (p.Ala880Val) c.2597C>T (p.Ala866Val) c.2462C>T (p.Ala821Val) c.2594C>T (p.Ala865Val) n.329+3415G>A | gnomAD v4 |
6 | g.33443192C>A | CA450103781 | SYNGAP1,SYNGAP1-AS1 | c.2382C>A (p.Ala794=) c.2640C>A (p.Ala880=) c.2598C>A (p.Ala866=) c.2463C>A (p.Ala821=) c.2595C>A (p.Ala865=) n.329+3414G>T | |
6 | g.33443192C>G | CA450103782 | SYNGAP1,SYNGAP1-AS1 | c.2382C>G (p.Ala794=) c.2640C>G (p.Ala880=) c.2598C>G (p.Ala866=) c.2463C>G (p.Ala821=) c.2595C>G (p.Ala865=) n.329+3414G>C | |
6 | g.33443192C>T | CA450103783 | SYNGAP1,SYNGAP1-AS1 | c.2382C>T (p.Ala794=) c.2640C>T (p.Ala880=) c.2598C>T (p.Ala866=) c.2463C>T (p.Ala821=) c.2595C>T (p.Ala865=) n.329+3414G>A | |
6 | g.33443193T>A | CA363626329 | SYNGAP1,SYNGAP1-AS1 | c.2383T>A (p.Leu795Met) c.2641T>A (p.Leu881Met) c.2599T>A (p.Leu867Met) c.2464T>A (p.Leu822Met) c.2596T>A (p.Leu866Met) n.329+3413A>T | |
6 | g.33443193T>C | CA450103784 | SYNGAP1,SYNGAP1-AS1 | c.2383T>C (p.Leu795=) c.2641T>C (p.Leu881=) c.2599T>C (p.Leu867=) c.2464T>C (p.Leu822=) c.2596T>C (p.Leu866=) n.329+3413A>G | |
6 | g.33443193T>G | CA363626331 | SYNGAP1,SYNGAP1-AS1 | c.2383T>G (p.Leu795Val) c.2641T>G (p.Leu881Val) c.2599T>G (p.Leu867Val) c.2464T>G (p.Leu822Val) c.2596T>G (p.Leu866Val) n.329+3413A>C | |
6 | g.33443194T>A | CA363626335 | SYNGAP1,SYNGAP1-AS1 | c.2384T>A (p.Leu795Ter) c.2642T>A (p.Leu881Ter) c.2600T>A (p.Leu867Ter) c.2465T>A (p.Leu822Ter) c.2597T>A (p.Leu866Ter) n.329+3412A>T | dbSNP |
6 | g.33443194T>C | CA363626338 | SYNGAP1,SYNGAP1-AS1 | c.2384T>C (p.Leu795Ser) c.2642T>C (p.Leu881Ser) c.2600T>C (p.Leu867Ser) c.2465T>C (p.Leu822Ser) c.2597T>C (p.Leu866Ser) n.329+3412A>G | |
6 | g.33443194T>G | CA363626340 | SYNGAP1,SYNGAP1-AS1 | c.2384T>G (p.Leu795Trp) c.2642T>G (p.Leu881Trp) c.2600T>G (p.Leu867Trp) c.2465T>G (p.Leu822Trp) c.2597T>G (p.Leu866Trp) n.329+3412A>C | |
6 | g.33443194T= | CA1620014533 | SYNGAP1,SYNGAP1-AS1 | c.2384T= (p.Leu795=) c.2642T= (p.Leu881=) c.2600T= (p.Leu867=) c.2465T= (p.Leu822=) c.2597T= (p.Leu866=) n.329+3412A= | |
6 | g.33443195G>A | CA450103785 | SYNGAP1,SYNGAP1-AS1 | c.2385G>A (p.Leu795=) c.2643G>A (p.Leu881=) c.2601G>A (p.Leu867=) c.2466G>A (p.Leu822=) c.2598G>A (p.Leu866=) n.329+3411C>T | |
6 | g.33443195G>C | CA363626342 | SYNGAP1,SYNGAP1-AS1 | c.2385G>C (p.Leu795Phe) c.2643G>C (p.Leu881Phe) c.2601G>C (p.Leu867Phe) c.2466G>C (p.Leu822Phe) c.2598G>C (p.Leu866Phe) n.329+3411C>G | |
6 | g.33443195G>T | CA363626345 | SYNGAP1,SYNGAP1-AS1 | c.2385G>T (p.Leu795Phe) c.2643G>T (p.Leu881Phe) c.2601G>T (p.Leu867Phe) c.2466G>T (p.Leu822Phe) c.2598G>T (p.Leu866Phe) n.329+3411C>A | |
6 | g.33443196G>A | CA363626349 | SYNGAP1,SYNGAP1-AS1 | c.2386G>A (p.Gly796Arg) c.2644G>A (p.Gly882Arg) c.2602G>A (p.Gly868Arg) c.2467G>A (p.Gly823Arg) c.2599G>A (p.Gly867Arg) n.329+3410C>T | |
6 | g.33443196G>C | CA363626351 | SYNGAP1,SYNGAP1-AS1 | c.2386G>C (p.Gly796Arg) c.2644G>C (p.Gly882Arg) c.2602G>C (p.Gly868Arg) c.2467G>C (p.Gly823Arg) c.2599G>C (p.Gly867Arg) n.329+3410C>G | |
6 | g.33443196G>T | CA363626354 | SYNGAP1,SYNGAP1-AS1 | c.2386G>T (p.Gly796Trp) c.2644G>T (p.Gly882Trp) c.2602G>T (p.Gly868Trp) c.2467G>T (p.Gly823Trp) c.2599G>T (p.Gly867Trp) n.329+3410C>A |