Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33443560_33443574del | CA2678276470 | SYNGAP1,SYNGAP1-AS1 | c.2750_2764del (p.Ser917_Asp922delinsAsn) c.3008_3022del (p.Ser1003_Asp1008delinsAsn) c.2966_2980del (p.Ser989_Asp994delinsAsn) c.2831_2845del (p.Ser944_Asp949delinsAsn) c.2963_2977del (p.Ser988_Asp993delinsAsn) n.329+3032_329+3046del | gnomAD v4 |
6 | g.33443563_33443566del | CA2678276472 | SYNGAP1,SYNGAP1-AS1 | c.2753_2756del (p.His918ProfsTer?) c.3011_3014del (p.His1004ProfsTer?) c.2969_2972del (p.His990ProfsTer?) c.2834_2837del (p.His945ProfsTer?) c.2966_2969del (p.His989ProfsTer?) n.329+3040_329+3043del | gnomAD v4 |
6 | g.33443564_33443572del | CA2678276479 | SYNGAP1,SYNGAP1-AS1 | c.2754_2762del (p.Ser919_Ser921del) c.3012_3020del (p.Ser1005_Ser1007del) c.2970_2978del (p.Ser991_Ser993del) c.2835_2843del (p.Ser946_Ser948del) c.2967_2975del (p.Ser990_Ser992del) n.329+3034_329+3042del | gnomAD v4 |
6 | g.33443566G>A | CA363630405 | SYNGAP1,SYNGAP1-AS1 | c.2756G>A (p.Ser919Asn) c.3014G>A (p.Ser1005Asn) c.2972G>A (p.Ser991Asn) c.2837G>A (p.Ser946Asn) c.2969G>A (p.Ser990Asn) n.329+3040C>T | dbSNP gnomAD v4 |
6 | g.33443566G>C | CA363630407 | SYNGAP1,SYNGAP1-AS1 | c.2756G>C (p.Ser919Thr) c.3014G>C (p.Ser1005Thr) c.2972G>C (p.Ser991Thr) c.2837G>C (p.Ser946Thr) c.2969G>C (p.Ser990Thr) n.329+3040C>G | |
6 | g.33443566G>T | CA363630409 | SYNGAP1,SYNGAP1-AS1 | c.2756G>T (p.Ser919Ile) c.3014G>T (p.Ser1005Ile) c.2972G>T (p.Ser991Ile) c.2837G>T (p.Ser946Ile) c.2969G>T (p.Ser990Ile) n.329+3040C>A | |
6 | g.33443566_33443567insAT | CA2770567209 | SYNGAP1,SYNGAP1-AS1 | c.2756_2757insAT (p.Ser919ArgfsTer?) c.3014_3015insAT (p.Ser1005ArgfsTer?) c.2972_2973insAT (p.Ser991ArgfsTer?) c.2837_2838insAT (p.Ser946ArgfsTer?) c.2969_2970insAT (p.Ser990ArgfsTer?) n.329+3039_329+3040insAT | |
6 | g.33443567C>A | CA363630413 | SYNGAP1,SYNGAP1-AS1 | c.2757C>A (p.Ser919Arg) c.3015C>A (p.Ser1005Arg) c.2973C>A (p.Ser991Arg) c.2838C>A (p.Ser946Arg) c.2970C>A (p.Ser990Arg) n.329+3039G>T | |
6 | g.33443567C>G | CA363630417 | SYNGAP1,SYNGAP1-AS1 | c.2757C>G (p.Ser919Arg) c.3015C>G (p.Ser1005Arg) c.2973C>G (p.Ser991Arg) c.2838C>G (p.Ser946Arg) c.2970C>G (p.Ser990Arg) n.329+3039G>C | gnomAD v4 |
6 | g.33443567C>T | CA450104171 | SYNGAP1,SYNGAP1-AS1 | c.2757C>T (p.Ser919=) c.3015C>T (p.Ser1005=) c.2973C>T (p.Ser991=) c.2838C>T (p.Ser946=) c.2970C>T (p.Ser990=) n.329+3039G>A | |
6 | g.33443568T>A | CA363630418 | SYNGAP1,SYNGAP1-AS1 | c.2758T>A (p.Tyr920Asn) c.3016T>A (p.Tyr1006Asn) c.2974T>A (p.Tyr992Asn) c.2839T>A (p.Tyr947Asn) c.2971T>A (p.Tyr991Asn) n.329+3038A>T | |
6 | g.33443568T>C | CA363630419 | SYNGAP1,SYNGAP1-AS1 | c.2758T>C (p.Tyr920His) c.3016T>C (p.Tyr1006His) c.2974T>C (p.Tyr992His) c.2839T>C (p.Tyr947His) c.2971T>C (p.Tyr991His) n.329+3038A>G | |
6 | g.33443568T>G | CA363630420 | SYNGAP1,SYNGAP1-AS1 | c.2758T>G (p.Tyr920Asp) c.3016T>G (p.Tyr1006Asp) c.2974T>G (p.Tyr992Asp) c.2839T>G (p.Tyr947Asp) c.2971T>G (p.Tyr991Asp) n.329+3038A>C | gnomAD v4 |
6 | g.33443569A>C | CA363630423 | SYNGAP1,SYNGAP1-AS1 | c.2759A>C (p.Tyr920Ser) c.3017A>C (p.Tyr1006Ser) c.2975A>C (p.Tyr992Ser) c.2840A>C (p.Tyr947Ser) c.2972A>C (p.Tyr991Ser) n.329+3037T>G | |
6 | g.33443569A>G | CA363630425 | SYNGAP1,SYNGAP1-AS1 | c.2759A>G (p.Tyr920Cys) c.3017A>G (p.Tyr1006Cys) c.2975A>G (p.Tyr992Cys) c.2840A>G (p.Tyr947Cys) c.2972A>G (p.Tyr991Cys) n.329+3037T>C | |
6 | g.33443569A>T | CA363630428 | SYNGAP1,SYNGAP1-AS1 | c.2759A>T (p.Tyr920Phe) c.3017A>T (p.Tyr1006Phe) c.2975A>T (p.Tyr992Phe) c.2840A>T (p.Tyr947Phe) c.2972A>T (p.Tyr991Phe) n.329+3037T>A | |
6 | g.33443570C>A | CA363630433 | SYNGAP1,SYNGAP1-AS1 | c.2760C>A (p.Tyr920Ter) c.3018C>A (p.Tyr1006Ter) c.2976C>A (p.Tyr992Ter) c.2841C>A (p.Tyr947Ter) c.2973C>A (p.Tyr991Ter) n.329+3036G>T | |
6 | g.33443570C= | CA1620014685 | SYNGAP1,SYNGAP1-AS1 | c.2760C= (p.Tyr920=) c.3018C= (p.Tyr1006=) c.2976C= (p.Tyr992=) c.2841C= (p.Tyr947=) c.2973C= (p.Tyr991=) n.329+3036G= | |
6 | g.33443570C>G | CA363630438 | SYNGAP1,SYNGAP1-AS1 | c.2760C>G (p.Tyr920Ter) c.3018C>G (p.Tyr1006Ter) c.2976C>G (p.Tyr992Ter) c.2841C>G (p.Tyr947Ter) c.2973C>G (p.Tyr991Ter) n.329+3036G>C | |
6 | g.33443570C>T | CA450104173 | SYNGAP1,SYNGAP1-AS1 | c.2760C>T (p.Tyr920=) c.3018C>T (p.Tyr1006=) c.2976C>T (p.Tyr992=) c.2841C>T (p.Tyr947=) c.2973C>T (p.Tyr991=) n.329+3036G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443570dup | CA2678276490 | SYNGAP1,SYNGAP1-AS1 | c.2760dup (p.Ser921GlnfsTer2) c.3018dup (p.Ser1007GlnfsTer2) c.2976dup (p.Ser993GlnfsTer2) c.2841dup (p.Ser948GlnfsTer2) c.2973dup (p.Ser992GlnfsTer2) n.329+3036dup | gnomAD v4 |
6 | g.33443570_33443574del | CA2678276492 | SYNGAP1,SYNGAP1-AS1 | c.2760_2764del (p.Tyr920Ter) c.3018_3022del (p.Tyr1006Ter) c.2976_2980del (p.Tyr992Ter) c.2841_2845del (p.Tyr947Ter) c.2973_2977del (p.Tyr991Ter) n.329+3032_329+3036del | gnomAD v4 |
6 | g.33443571A>C | CA363630444 | SYNGAP1,SYNGAP1-AS1 | c.2761A>C (p.Ser921Arg) c.3019A>C (p.Ser1007Arg) c.2977A>C (p.Ser993Arg) c.2842A>C (p.Ser948Arg) c.2974A>C (p.Ser992Arg) n.329+3035T>G | |
6 | g.33443571A>G | CA363630451 | SYNGAP1,SYNGAP1-AS1 | c.2761A>G (p.Ser921Gly) c.3019A>G (p.Ser1007Gly) c.2977A>G (p.Ser993Gly) c.2842A>G (p.Ser948Gly) c.2974A>G (p.Ser992Gly) n.329+3035T>C | |
6 | g.33443571A>T | CA363630440 | SYNGAP1,SYNGAP1-AS1 | c.2761A>T (p.Ser921Cys) c.3019A>T (p.Ser1007Cys) c.2977A>T (p.Ser993Cys) c.2842A>T (p.Ser948Cys) c.2974A>T (p.Ser992Cys) n.329+3035T>A | |
6 | g.33443572G>A | CA363630458 | SYNGAP1,SYNGAP1-AS1 | c.2762G>A (p.Ser921Asn) c.3020G>A (p.Ser1007Asn) c.2978G>A (p.Ser993Asn) c.2843G>A (p.Ser948Asn) c.2975G>A (p.Ser992Asn) n.329+3034C>T | ClinVar |
6 | g.33443572G>C | CA363630467 | SYNGAP1,SYNGAP1-AS1 | c.2762G>C (p.Ser921Thr) c.3020G>C (p.Ser1007Thr) c.2978G>C (p.Ser993Thr) c.2843G>C (p.Ser948Thr) c.2975G>C (p.Ser992Thr) n.329+3034C>G | gnomAD v4 |
6 | g.33443572G>T | CA363630485 | SYNGAP1,SYNGAP1-AS1 | c.2762G>T (p.Ser921Ile) c.3020G>T (p.Ser1007Ile) c.2978G>T (p.Ser993Ile) c.2843G>T (p.Ser948Ile) c.2975G>T (p.Ser992Ile) n.329+3034C>A | |
6 | g.33443573_33443574del | CA2770567214 | SYNGAP1,SYNGAP1-AS1 | c.2763_2764del (p.Ser921ArgfsTer2) c.3021_3022del (p.Ser1007ArgfsTer2) c.2979_2980del (p.Ser993ArgfsTer2) c.2844_2845del (p.Ser948ArgfsTer2) c.2976_2977del (p.Ser992ArgfsTer2) n.329+3033_329+3034del | |
6 | g.33443573T>A | CA363630486 | SYNGAP1,SYNGAP1-AS1 | c.2763T>A (p.Ser921Arg) c.3021T>A (p.Ser1007Arg) c.2979T>A (p.Ser993Arg) c.2844T>A (p.Ser948Arg) c.2976T>A (p.Ser992Arg) n.329+3033A>T | |
6 | g.33443573T>C | CA450104175 | SYNGAP1,SYNGAP1-AS1 | c.2763T>C (p.Ser921=) c.3021T>C (p.Ser1007=) c.2979T>C (p.Ser993=) c.2844T>C (p.Ser948=) c.2976T>C (p.Ser992=) n.329+3033A>G | gnomAD v4 |
6 | g.33443573T>G | CA363630487 | SYNGAP1,SYNGAP1-AS1 | c.2763T>G (p.Ser921Arg) c.3021T>G (p.Ser1007Arg) c.2979T>G (p.Ser993Arg) c.2844T>G (p.Ser948Arg) c.2976T>G (p.Ser992Arg) n.329+3033A>C | |
6 | g.33443574G>A | CA363630490 | SYNGAP1,SYNGAP1-AS1 | c.2764G>A (p.Asp922Asn) c.3022G>A (p.Asp1008Asn) c.2980G>A (p.Asp994Asn) c.2845G>A (p.Asp949Asn) c.2977G>A (p.Asp993Asn) n.329+3032C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443574G>C | CA363630491 | SYNGAP1,SYNGAP1-AS1 | c.2764G>C (p.Asp922His) c.3022G>C (p.Asp1008His) c.2980G>C (p.Asp994His) c.2845G>C (p.Asp949His) c.2977G>C (p.Asp993His) n.329+3032C>G | gnomAD v4 |
6 | g.33443574G= | CA1620014686 | SYNGAP1,SYNGAP1-AS1 | c.2764G= (p.Asp922=) c.3022G= (p.Asp1008=) c.2980G= (p.Asp994=) c.2845G= (p.Asp949=) c.2977G= (p.Asp993=) n.329+3032C= | |
6 | g.33443574G>T | CA363630498 | SYNGAP1,SYNGAP1-AS1 | c.2764G>T (p.Asp922Tyr) c.3022G>T (p.Asp1008Tyr) c.2980G>T (p.Asp994Tyr) c.2845G>T (p.Asp949Tyr) c.2977G>T (p.Asp993Tyr) n.329+3032C>A | |
6 | g.33443575A= | CA1620014687 | SYNGAP1,SYNGAP1-AS1 | c.2765A= (p.Asp922=) c.3023A= (p.Asp1008=) c.2981A= (p.Asp994=) c.2846A= (p.Asp949=) c.2978A= (p.Asp993=) n.329+3031T= | |
6 | g.33443575A>C | CA363630501 | SYNGAP1,SYNGAP1-AS1 | c.2765A>C (p.Asp922Ala) c.3023A>C (p.Asp1008Ala) c.2981A>C (p.Asp994Ala) c.2846A>C (p.Asp949Ala) c.2978A>C (p.Asp993Ala) n.329+3031T>G | |
6 | g.33443575A>G | CA363630509 | SYNGAP1,SYNGAP1-AS1 | c.2765A>G (p.Asp922Gly) c.3023A>G (p.Asp1008Gly) c.2981A>G (p.Asp994Gly) c.2846A>G (p.Asp949Gly) c.2978A>G (p.Asp993Gly) n.329+3031T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443575A>T | CA363630510 | SYNGAP1,SYNGAP1-AS1 | c.2765A>T (p.Asp922Val) c.3023A>T (p.Asp1008Val) c.2981A>T (p.Asp994Val) c.2846A>T (p.Asp949Val) c.2978A>T (p.Asp993Val) n.329+3031T>A | |
6 | g.33443576del | CA2678276507 | SYNGAP1,SYNGAP1-AS1 | c.2766del (p.Asp922GlufsTer?) c.3024del (p.Asp1008GlufsTer?) c.2982del (p.Asp994GlufsTer?) c.2847del (p.Asp949GlufsTer?) c.2979del (p.Asp993GlufsTer?) n.329+3030del | gnomAD v4 |
6 | g.33443576T>A | CA363630514 | SYNGAP1,SYNGAP1-AS1 | c.2766T>A (p.Asp922Glu) c.3024T>A (p.Asp1008Glu) c.2982T>A (p.Asp994Glu) c.2847T>A (p.Asp949Glu) c.2979T>A (p.Asp993Glu) n.329+3030A>T | gnomAD v4 |
6 | g.33443576T>C | CA450104177 | SYNGAP1,SYNGAP1-AS1 | c.2766T>C (p.Asp922=) c.3024T>C (p.Asp1008=) c.2982T>C (p.Asp994=) c.2847T>C (p.Asp949=) c.2979T>C (p.Asp993=) n.329+3030A>G | gnomAD v4 |
6 | g.33443576T>G | CA363630516 | SYNGAP1,SYNGAP1-AS1 | c.2766T>G (p.Asp922Glu) c.3024T>G (p.Asp1008Glu) c.2982T>G (p.Asp994Glu) c.2847T>G (p.Asp949Glu) c.2979T>G (p.Asp993Glu) n.329+3030A>C | gnomAD v4 |
6 | g.33443577G>A | CA363630522 | SYNGAP1,SYNGAP1-AS1 | c.2767G>A (p.Glu923Lys) c.3025G>A (p.Glu1009Lys) c.2983G>A (p.Glu995Lys) c.2848G>A (p.Glu950Lys) c.2980G>A (p.Glu994Lys) n.329+3029C>T | |
6 | g.33443577G>C | CA363630519 | SYNGAP1,SYNGAP1-AS1 | c.2767G>C (p.Glu923Gln) c.3025G>C (p.Glu1009Gln) c.2983G>C (p.Glu995Gln) c.2848G>C (p.Glu950Gln) c.2980G>C (p.Glu994Gln) n.329+3029C>G | gnomAD v4 |
6 | g.33443577G= | CA1620014688 | SYNGAP1,SYNGAP1-AS1 | c.2767G= (p.Glu923=) c.3025G= (p.Glu1009=) c.2983G= (p.Glu995=) c.2848G= (p.Glu950=) c.2980G= (p.Glu994=) n.329+3029C= | |
6 | g.33443577G>T | CA363630517 | SYNGAP1,SYNGAP1-AS1 | c.2767G>T (p.Glu923Ter) c.3025G>T (p.Glu1009Ter) c.2983G>T (p.Glu995Ter) c.2848G>T (p.Glu950Ter) c.2980G>T (p.Glu994Ter) n.329+3029C>A | ClinVar dbSNP |
6 | g.33443577_33443584del | CA2678276512 | SYNGAP1,SYNGAP1-AS1 | c.2767_2774del (p.Glu923ThrfsTer5) c.3025_3032del (p.Glu1009ThrfsTer5) c.2983_2990del (p.Glu995ThrfsTer5) c.2848_2855del (p.Glu950ThrfsTer5) c.2980_2987del (p.Glu994ThrfsTer5) n.329+3022_329+3029del | gnomAD v4 |
6 | g.33443578A>C | CA363630525 | SYNGAP1,SYNGAP1-AS1 | c.2768A>C (p.Glu923Ala) c.3026A>C (p.Glu1009Ala) c.2984A>C (p.Glu995Ala) c.2849A>C (p.Glu950Ala) c.2981A>C (p.Glu994Ala) n.329+3028T>G | ClinVar |
6 | g.33443578A>G | CA363630543 | SYNGAP1,SYNGAP1-AS1 | c.2768A>G (p.Glu923Gly) c.3026A>G (p.Glu1009Gly) c.2984A>G (p.Glu995Gly) c.2849A>G (p.Glu950Gly) c.2981A>G (p.Glu994Gly) n.329+3028T>C | |
6 | g.33443578A>T | CA363630545 | SYNGAP1,SYNGAP1-AS1 | c.2768A>T (p.Glu923Val) c.3026A>T (p.Glu1009Val) c.2984A>T (p.Glu995Val) c.2849A>T (p.Glu950Val) c.2981A>T (p.Glu994Val) n.329+3028T>A | |
6 | g.33443579del | CA2678276522 | SYNGAP1,SYNGAP1-AS1 | c.2769del (p.Glu923AspfsTer?) c.3027del (p.Glu1009AspfsTer?) c.2985del (p.Glu995AspfsTer?) c.2850del (p.Glu950AspfsTer?) c.2982del (p.Glu994AspfsTer?) n.329+3027del | gnomAD v4 |
6 | g.33443579G>A | CA450104179 | SYNGAP1,SYNGAP1-AS1 | c.2769G>A (p.Glu923=) c.3027G>A (p.Glu1009=) c.2985G>A (p.Glu995=) c.2850G>A (p.Glu950=) c.2982G>A (p.Glu994=) n.329+3027C>T | dbSNP gnomAD v3 |
6 | g.33443579G>C | CA363630548 | SYNGAP1,SYNGAP1-AS1 | c.2769G>C (p.Glu923Asp) c.3027G>C (p.Glu1009Asp) c.2985G>C (p.Glu995Asp) c.2850G>C (p.Glu950Asp) c.2982G>C (p.Glu994Asp) n.329+3027C>G | dbSNP gnomAD v4 |
6 | g.33443579G= | CA1620014689 | SYNGAP1,SYNGAP1-AS1 | c.2769G= (p.Glu923=) c.3027G= (p.Glu1009=) c.2985G= (p.Glu995=) c.2850G= (p.Glu950=) c.2982G= (p.Glu994=) n.329+3027C= | |
6 | g.33443579G>T | CA363630551 | SYNGAP1,SYNGAP1-AS1 | c.2769G>T (p.Glu923Asp) c.3027G>T (p.Glu1009Asp) c.2985G>T (p.Glu995Asp) c.2850G>T (p.Glu950Asp) c.2982G>T (p.Glu994Asp) n.329+3027C>A | |
6 | g.33443579_33443581del | CA2678276523 | SYNGAP1,SYNGAP1-AS1 | c.2769_2771del (p.Glu923_Phe924delinsAsp) c.3027_3029del (p.Glu1009_Phe1010delinsAsp) c.2985_2987del (p.Glu995_Phe996delinsAsp) c.2850_2852del (p.Glu950_Phe951delinsAsp) c.2982_2984del (p.Glu994_Phe995delinsAsp) n.329+3025_329+3027del | gnomAD v4 |
6 | g.33443579_33443588del | CA2678276525 | SYNGAP1,SYNGAP1-AS1 | c.2769_2778del (p.Glu923AspfsTer?) c.3027_3036del (p.Glu1009AspfsTer?) c.2985_2994del (p.Glu995AspfsTer?) c.2850_2859del (p.Glu950AspfsTer?) c.2982_2991del (p.Glu994AspfsTer?) n.329+3018_329+3027del | gnomAD v4 |
6 | g.33443580T>A | CA363630557 | SYNGAP1,SYNGAP1-AS1 | c.2770T>A (p.Phe924Ile) c.3028T>A (p.Phe1010Ile) c.2986T>A (p.Phe996Ile) c.2851T>A (p.Phe951Ile) c.2983T>A (p.Phe995Ile) n.329+3026A>T | |
6 | g.33443580T>C | CA363630561 | SYNGAP1,SYNGAP1-AS1 | c.2770T>C (p.Phe924Leu) c.3028T>C (p.Phe1010Leu) c.2986T>C (p.Phe996Leu) c.2851T>C (p.Phe951Leu) c.2983T>C (p.Phe995Leu) n.329+3026A>G | |
6 | g.33443580T>G | CA363630562 | SYNGAP1,SYNGAP1-AS1 | c.2770T>G (p.Phe924Val) c.3028T>G (p.Phe1010Val) c.2986T>G (p.Phe996Val) c.2851T>G (p.Phe951Val) c.2983T>G (p.Phe995Val) n.329+3026A>C | |
6 | g.33443581T>A | CA363630566 | SYNGAP1,SYNGAP1-AS1 | c.2771T>A (p.Phe924Tyr) c.3029T>A (p.Phe1010Tyr) c.2987T>A (p.Phe996Tyr) c.2852T>A (p.Phe951Tyr) c.2984T>A (p.Phe995Tyr) n.329+3025A>T | |
6 | g.33443581T>C | CA363630570 | SYNGAP1,SYNGAP1-AS1 | c.2771T>C (p.Phe924Ser) c.3029T>C (p.Phe1010Ser) c.2987T>C (p.Phe996Ser) c.2852T>C (p.Phe951Ser) c.2984T>C (p.Phe995Ser) n.329+3025A>G | gnomAD v4 |
6 | g.33443581T>G | CA363630573 | SYNGAP1,SYNGAP1-AS1 | c.2771T>G (p.Phe924Cys) c.3029T>G (p.Phe1010Cys) c.2987T>G (p.Phe996Cys) c.2852T>G (p.Phe951Cys) c.2984T>G (p.Phe995Cys) n.329+3025A>C | |
6 | g.33443581_33443582insA | CA2770567221 | SYNGAP1,SYNGAP1-AS1 | c.2771_2772insA (p.Phe924LeufsTer7) c.3029_3030insA (p.Phe1010LeufsTer7) c.2987_2988insA (p.Phe996LeufsTer7) c.2852_2853insA (p.Phe951LeufsTer7) c.2984_2985insA (p.Phe995LeufsTer7) n.329+3024_329+3025insT | |
6 | g.33443582T>A | CA363630578 | SYNGAP1,SYNGAP1-AS1 | c.2772T>A (p.Phe924Leu) c.3030T>A (p.Phe1010Leu) c.2988T>A (p.Phe996Leu) c.2853T>A (p.Phe951Leu) c.2985T>A (p.Phe995Leu) n.329+3024A>T | |
6 | g.33443582T>C | CA3758973 | SYNGAP1,SYNGAP1-AS1 | c.2772T>C (p.Phe924=) c.3030T>C (p.Phe1010=) c.2988T>C (p.Phe996=) c.2853T>C (p.Phe951=) c.2985T>C (p.Phe995=) n.329+3024A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443582T>G | CA363630589 | SYNGAP1,SYNGAP1-AS1 | c.2772T>G (p.Phe924Leu) c.3030T>G (p.Phe1010Leu) c.2988T>G (p.Phe996Leu) c.2853T>G (p.Phe951Leu) c.2985T>G (p.Phe995Leu) n.329+3024A>C | |
6 | g.33443582T= | CA1620014690 | SYNGAP1,SYNGAP1-AS1 | c.2772T= (p.Phe924=) c.3030T= (p.Phe1010=) c.2988T= (p.Phe996=) c.2853T= (p.Phe951=) c.2985T= (p.Phe995=) n.329+3024A= | |
6 | g.33443582_33443583insAC | CA2678276544 | SYNGAP1,SYNGAP1-AS1 | c.2772_2773insAC (p.Gly925ThrfsTer?) c.3030_3031insAC (p.Gly1011ThrfsTer?) c.2988_2989insAC (p.Gly997ThrfsTer?) c.2853_2854insAC (p.Gly952ThrfsTer?) c.2985_2986insAC (p.Gly996ThrfsTer?) n.329+3023_329+3024insGT | gnomAD v4 |
6 | g.33443583G>A | CA363630597 | SYNGAP1,SYNGAP1-AS1 | c.2773G>A (p.Gly925Arg) c.3031G>A (p.Gly1011Arg) c.2989G>A (p.Gly997Arg) c.2854G>A (p.Gly952Arg) c.2986G>A (p.Gly996Arg) n.329+3023C>T | gnomAD v4 |
6 | g.33443583G>C | CA363630600 | SYNGAP1,SYNGAP1-AS1 | c.2773G>C (p.Gly925Arg) c.3031G>C (p.Gly1011Arg) c.2989G>C (p.Gly997Arg) c.2854G>C (p.Gly952Arg) c.2986G>C (p.Gly996Arg) n.329+3023C>G | |
6 | g.33443583G= | CA1620014691 | SYNGAP1,SYNGAP1-AS1 | c.2773G= (p.Gly925=) c.3031G= (p.Gly1011=) c.2989G= (p.Gly997=) c.2854G= (p.Gly952=) c.2986G= (p.Gly996=) n.329+3023C= | |
6 | g.33443583G>T | CA363630596 | SYNGAP1,SYNGAP1-AS1 | c.2773G>T (p.Gly925Ter) c.3031G>T (p.Gly1011Ter) c.2989G>T (p.Gly997Ter) c.2854G>T (p.Gly952Ter) c.2986G>T (p.Gly996Ter) n.329+3023C>A | dbSNP |
6 | g.33443583_33443584del | CA2678276542 | SYNGAP1,SYNGAP1-AS1 | c.2773_2774del (p.Gly925ThrfsTer5) c.3031_3032del (p.Gly1011ThrfsTer5) c.2989_2990del (p.Gly997ThrfsTer5) c.2854_2855del (p.Gly952ThrfsTer5) c.2986_2987del (p.Gly996ThrfsTer5) n.329+3022_329+3023del | gnomAD v4 |
6 | g.33443583_33443606del | CA2770567222 | SYNGAP1,SYNGAP1-AS1 | c.2773_2796del (p.Gly925_Thr932del) c.3031_3054del (p.Gly1011_Thr1018del) c.2989_3012del (p.Gly997_Thr1004del) c.2854_2877del (p.Gly952_Thr959del) c.2986_3009del (p.Gly996_Thr1003del) n.329+3000_329+3023del | |
6 | g.33443584G>A | CA363630604 | SYNGAP1,SYNGAP1-AS1 | c.2774G>A (p.Gly925Glu) c.3032G>A (p.Gly1011Glu) c.2990G>A (p.Gly997Glu) c.2855G>A (p.Gly952Glu) c.2987G>A (p.Gly996Glu) n.329+3022C>T | |
6 | g.33443584G>C | CA363630608 | SYNGAP1,SYNGAP1-AS1 | c.2774G>C (p.Gly925Ala) c.3032G>C (p.Gly1011Ala) c.2990G>C (p.Gly997Ala) c.2855G>C (p.Gly952Ala) c.2987G>C (p.Gly996Ala) n.329+3022C>G | gnomAD v4 |
6 | g.33443584G>T | CA363630609 | SYNGAP1,SYNGAP1-AS1 | c.2774G>T (p.Gly925Val) c.3032G>T (p.Gly1011Val) c.2990G>T (p.Gly997Val) c.2855G>T (p.Gly952Val) c.2987G>T (p.Gly996Val) n.329+3022C>A | |
6 | g.33443584_33443585insCG | CA2678276545 | SYNGAP1,SYNGAP1-AS1 | c.2774_2775insCG (p.Pro926AspfsTer?) c.3032_3033insCG (p.Pro1012AspfsTer?) c.2990_2991insCG (p.Pro998AspfsTer?) c.2855_2856insCG (p.Pro953AspfsTer?) c.2987_2988insCG (p.Pro997AspfsTer?) n.329+3022_329+3023insGC | gnomAD v4 |
6 | g.33443585A>C | CA450104186 | SYNGAP1,SYNGAP1-AS1 | c.2775A>C (p.Gly925=) c.3033A>C (p.Gly1011=) c.2991A>C (p.Gly997=) c.2856A>C (p.Gly952=) c.2988A>C (p.Gly996=) n.329+3021T>G | |
6 | g.33443585A>G | CA450104187 | SYNGAP1,SYNGAP1-AS1 | c.2775A>G (p.Gly925=) c.3033A>G (p.Gly1011=) c.2991A>G (p.Gly997=) c.2856A>G (p.Gly952=) c.2988A>G (p.Gly996=) n.329+3021T>C | |
6 | g.33443585A>T | CA450104188 | SYNGAP1,SYNGAP1-AS1 | c.2775A>T (p.Gly925=) c.3033A>T (p.Gly1011=) c.2991A>T (p.Gly997=) c.2856A>T (p.Gly952=) c.2988A>T (p.Gly996=) n.329+3021T>A | |
6 | g.33443585_33443586delinsAC | CA1620014692 | SYNGAP1,SYNGAP1-AS1 | c.2775_2776delinsAC (p.Gly925=) c.3033_3034delinsAC (p.Gly1011=) c.2991_2992delinsAC (p.Gly997=) c.2856_2857delinsAC (p.Gly952=) c.2988_2989delinsAC (p.Gly996=) n.329+3020_329+3021delinsGT | |
6 | g.33443586C>A | CA363630610 | SYNGAP1,SYNGAP1-AS1 | c.2776C>A (p.Pro926Thr) c.3034C>A (p.Pro1012Thr) c.2992C>A (p.Pro998Thr) c.2857C>A (p.Pro953Thr) c.2989C>A (p.Pro997Thr) n.329+3020G>T | |
6 | g.33443586C>G | CA363630611 | SYNGAP1,SYNGAP1-AS1 | c.2776C>G (p.Pro926Ala) c.3034C>G (p.Pro1012Ala) c.2992C>G (p.Pro998Ala) c.2857C>G (p.Pro953Ala) c.2989C>G (p.Pro997Ala) n.329+3020G>C | |
6 | g.33443586C>T | CA363630612 | SYNGAP1,SYNGAP1-AS1 | c.2776C>T (p.Pro926Ser) c.3034C>T (p.Pro1012Ser) c.2992C>T (p.Pro998Ser) c.2857C>T (p.Pro953Ser) c.2989C>T (p.Pro997Ser) n.329+3020G>A | gnomAD v4 |
6 | g.33443588del | CA658796746 | SYNGAP1,SYNGAP1-AS1 | c.2778del (p.Ser927LeufsTer?) c.3036del (p.Ser1013LeufsTer?) c.2994del (p.Ser999LeufsTer?) c.2859del (p.Ser954LeufsTer?) c.2991del (p.Ser998LeufsTer?) n.329+3020del | ClinVar dbSNP |
6 | g.33443587C>A | CA363630613 | SYNGAP1,SYNGAP1-AS1 | c.2777C>A (p.Pro926His) c.3035C>A (p.Pro1012His) c.2993C>A (p.Pro998His) c.2858C>A (p.Pro953His) c.2990C>A (p.Pro997His) n.329+3019G>T | |
6 | g.33443587C>G | CA363630617 | SYNGAP1,SYNGAP1-AS1 | c.2777C>G (p.Pro926Arg) c.3035C>G (p.Pro1012Arg) c.2993C>G (p.Pro998Arg) c.2858C>G (p.Pro953Arg) c.2990C>G (p.Pro997Arg) n.329+3019G>C | |
6 | g.33443587C>T | CA363630621 | SYNGAP1,SYNGAP1-AS1 | c.2777C>T (p.Pro926Leu) c.3035C>T (p.Pro1012Leu) c.2993C>T (p.Pro998Leu) c.2858C>T (p.Pro953Leu) c.2990C>T (p.Pro997Leu) n.329+3019G>A | |
6 | g.33443587_33443591del | CA2678276552 | SYNGAP1,SYNGAP1-AS1 | c.2777_2781del (p.Pro926ArgfsTer3) c.3035_3039del (p.Pro1012ArgfsTer3) c.2993_2997del (p.Pro998ArgfsTer3) c.2858_2862del (p.Pro953ArgfsTer3) c.2990_2994del (p.Pro997ArgfsTer3) n.329+3015_329+3019del | gnomAD v4 |
6 | g.33443587_33443588insA | CA2678276553 | SYNGAP1,SYNGAP1-AS1 | c.2777_2778insA (p.Ser927LeufsTer4) c.3035_3036insA (p.Ser1013LeufsTer4) c.2993_2994insA (p.Ser999LeufsTer4) c.2858_2859insA (p.Ser954LeufsTer4) c.2990_2991insA (p.Ser998LeufsTer4) n.329+3018_329+3019insT | gnomAD v4 |
6 | g.33443587_33443588insAG | CA2770567223 | SYNGAP1,SYNGAP1-AS1 | c.2777_2778insAG (p.Ser927AlafsTer?) c.3035_3036insAG (p.Ser1013AlafsTer?) c.2993_2994insAG (p.Ser999AlafsTer?) c.2858_2859insAG (p.Ser954AlafsTer?) c.2990_2991insAG (p.Ser998AlafsTer?) n.329+3018_329+3019insCT | |
6 | g.33443588C>A | CA450104191 | SYNGAP1,SYNGAP1-AS1 | c.2778C>A (p.Pro926=) c.3036C>A (p.Pro1012=) c.2994C>A (p.Pro998=) c.2859C>A (p.Pro953=) c.2991C>A (p.Pro997=) n.329+3018G>T | |
6 | g.33443588C= | CA1620014693 | SYNGAP1,SYNGAP1-AS1 | c.2778C= (p.Pro926=) c.3036C= (p.Pro1012=) c.2994C= (p.Pro998=) c.2859C= (p.Pro953=) c.2991C= (p.Pro997=) n.329+3018G= | |
6 | g.33443588C>G | CA137073261 | SYNGAP1,SYNGAP1-AS1 | c.2778C>G (p.Pro926=) c.3036C>G (p.Pro1012=) c.2994C>G (p.Pro998=) c.2859C>G (p.Pro953=) c.2991C>G (p.Pro997=) n.329+3018G>C | dbSNP |
6 | g.33443588C>T | CA450104192 | SYNGAP1,SYNGAP1-AS1 | c.2778C>T (p.Pro926=) c.3036C>T (p.Pro1012=) c.2994C>T (p.Pro998=) c.2859C>T (p.Pro953=) c.2991C>T (p.Pro997=) n.329+3018G>A | gnomAD v4 |
6 | g.33443588_33443589insCGAGA | CA2678276560 | SYNGAP1,SYNGAP1-AS1 | c.2778_2779insCGAGA (p.Ser927ArgfsTer?) c.3036_3037insCGAGA (p.Ser1013ArgfsTer?) c.2994_2995insCGAGA (p.Ser999ArgfsTer?) c.2859_2860insCGAGA (p.Ser954ArgfsTer?) c.2991_2992insCGAGA (p.Ser998ArgfsTer?) n.329+3017_329+3018insTCTCG | gnomAD v4 |
6 | g.33443589T>A | CA363630624 | SYNGAP1,SYNGAP1-AS1 | c.2779T>A (p.Ser927Thr) c.3037T>A (p.Ser1013Thr) c.2995T>A (p.Ser999Thr) c.2860T>A (p.Ser954Thr) c.2992T>A (p.Ser998Thr) n.329+3017A>T | |
6 | g.33443589T>C | CA3758974 | SYNGAP1,SYNGAP1-AS1 | c.2779T>C (p.Ser927Pro) c.3037T>C (p.Ser1013Pro) c.2995T>C (p.Ser999Pro) c.2860T>C (p.Ser954Pro) c.2992T>C (p.Ser998Pro) n.329+3017A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443589T>G | CA363630629 | SYNGAP1,SYNGAP1-AS1 | c.2779T>G (p.Ser927Ala) c.3037T>G (p.Ser1013Ala) c.2995T>G (p.Ser999Ala) c.2860T>G (p.Ser954Ala) c.2992T>G (p.Ser998Ala) n.329+3017A>C | |
6 | g.33443589T= | CA1620014694 | SYNGAP1,SYNGAP1-AS1 | c.2779T= (p.Ser927=) c.3037T= (p.Ser1013=) c.2995T= (p.Ser999=) c.2860T= (p.Ser954=) c.2992T= (p.Ser998=) n.329+3017A= | |
6 | g.33443590C>A | CA363630640 | SYNGAP1,SYNGAP1-AS1 | c.2780C>A (p.Ser927Tyr) c.3038C>A (p.Ser1013Tyr) c.2996C>A (p.Ser999Tyr) c.2861C>A (p.Ser954Tyr) c.2993C>A (p.Ser998Tyr) n.329+3016G>T | |
6 | g.33443590C= | CA1620014695 | SYNGAP1,SYNGAP1-AS1 | c.2780C= (p.Ser927=) c.3038C= (p.Ser1013=) c.2996C= (p.Ser999=) c.2861C= (p.Ser954=) c.2993C= (p.Ser998=) n.329+3016G= | |
6 | g.33443590C>G | CA3758975 | SYNGAP1,SYNGAP1-AS1 | c.2780C>G (p.Ser927Cys) c.3038C>G (p.Ser1013Cys) c.2996C>G (p.Ser999Cys) c.2861C>G (p.Ser954Cys) c.2993C>G (p.Ser998Cys) n.329+3016G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443590C>T | CA363630635 | SYNGAP1,SYNGAP1-AS1 | c.2780C>T (p.Ser927Phe) c.3038C>T (p.Ser1013Phe) c.2996C>T (p.Ser999Phe) c.2861C>T (p.Ser954Phe) c.2993C>T (p.Ser998Phe) n.329+3016G>A | gnomAD v4 |
6 | g.33443591_33443594del | CA2770567224 | SYNGAP1,SYNGAP1-AS1 | c.2781_2784del (p.Gly928LeufsTer?) c.3039_3042del (p.Gly1014LeufsTer?) c.2997_3000del (p.Gly1000LeufsTer?) c.2862_2865del (p.Gly955LeufsTer?) c.2994_2997del (p.Gly999LeufsTer?) n.329+3013_329+3016del | |
6 | g.33443591T>A | CA450104196 | SYNGAP1,SYNGAP1-AS1 | c.2781T>A (p.Ser927=) c.3039T>A (p.Ser1013=) c.2997T>A (p.Ser999=) c.2862T>A (p.Ser954=) c.2994T>A (p.Ser998=) n.329+3015A>T | gnomAD v4 |
6 | g.33443591T>C | CA3758976 | SYNGAP1,SYNGAP1-AS1 | c.2781T>C (p.Ser927=) c.3039T>C (p.Ser1013=) c.2997T>C (p.Ser999=) c.2862T>C (p.Ser954=) c.2994T>C (p.Ser998=) n.329+3015A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443591T>G | CA450104197 | SYNGAP1,SYNGAP1-AS1 | c.2781T>G (p.Ser927=) c.3039T>G (p.Ser1013=) c.2997T>G (p.Ser999=) c.2862T>G (p.Ser954=) c.2994T>G (p.Ser998=) n.329+3015A>C | |
6 | g.33443591T= | CA1620014696 | SYNGAP1,SYNGAP1-AS1 | c.2781T= (p.Ser927=) c.3039T= (p.Ser1013=) c.2997T= (p.Ser999=) c.2862T= (p.Ser954=) c.2994T= (p.Ser998=) n.329+3015A= | |
6 | g.33443592G>A | CA363630643 | SYNGAP1,SYNGAP1-AS1 | c.2782G>A (p.Gly928Ser) c.3040G>A (p.Gly1014Ser) c.2998G>A (p.Gly1000Ser) c.2863G>A (p.Gly955Ser) c.2995G>A (p.Gly999Ser) n.329+3014C>T | dbSNP |
6 | g.33443592G>C | CA363630647 | SYNGAP1,SYNGAP1-AS1 | c.2782G>C (p.Gly928Arg) c.3040G>C (p.Gly1014Arg) c.2998G>C (p.Gly1000Arg) c.2863G>C (p.Gly955Arg) c.2995G>C (p.Gly999Arg) n.329+3014C>G | |
6 | g.33443592G>T | CA363630649 | SYNGAP1,SYNGAP1-AS1 | c.2782G>T (p.Gly928Cys) c.3040G>T (p.Gly1014Cys) c.2998G>T (p.Gly1000Cys) c.2863G>T (p.Gly955Cys) c.2995G>T (p.Gly999Cys) n.329+3014C>A | |
6 | g.33443593del | CA2678276573 | SYNGAP1,SYNGAP1-AS1 | c.2783del (p.Gly928AlafsTer?) c.3041del (p.Gly1014AlafsTer?) c.2999del (p.Gly1000AlafsTer?) c.2864del (p.Gly955AlafsTer?) c.2996del (p.Gly999AlafsTer?) n.329+3014del | gnomAD v4 |
6 | g.33443592_33443594del | CA2678276572 | SYNGAP1,SYNGAP1-AS1 | c.2782_2784del (p.Gly928del) c.3040_3042del (p.Gly1014del) c.2998_3000del (p.Gly1000del) c.2863_2865del (p.Gly955del) c.2995_2997del (p.Gly999del) n.329+3012_329+3014del | gnomAD v4 |
6 | g.33443593G>A | CA363630651 | SYNGAP1,SYNGAP1-AS1 | c.2783G>A (p.Gly928Asp) c.3041G>A (p.Gly1014Asp) c.2999G>A (p.Gly1000Asp) c.2864G>A (p.Gly955Asp) c.2996G>A (p.Gly999Asp) n.329+3013C>T | gnomAD v4 |
6 | g.33443593G>C | CA363630653 | SYNGAP1,SYNGAP1-AS1 | c.2783G>C (p.Gly928Ala) c.3041G>C (p.Gly1014Ala) c.2999G>C (p.Gly1000Ala) c.2864G>C (p.Gly955Ala) c.2996G>C (p.Gly999Ala) n.329+3013C>G | |
6 | g.33443593G= | CA1620014697 | SYNGAP1,SYNGAP1-AS1 | c.2783G= (p.Gly928=) c.3041G= (p.Gly1014=) c.2999G= (p.Gly1000=) c.2864G= (p.Gly955=) c.2996G= (p.Gly999=) n.329+3013C= | |
6 | g.33443593G>T | CA363630658 | SYNGAP1,SYNGAP1-AS1 | c.2783G>T (p.Gly928Val) c.3041G>T (p.Gly1014Val) c.2999G>T (p.Gly1000Val) c.2864G>T (p.Gly955Val) c.2996G>T (p.Gly999Val) n.329+3013C>A | ClinVar dbSNP |
6 | g.33443594C>A | CA450104201 | SYNGAP1,SYNGAP1-AS1 | c.2784C>A (p.Gly928=) c.3042C>A (p.Gly1014=) c.3000C>A (p.Gly1000=) c.2865C>A (p.Gly955=) c.2997C>A (p.Gly999=) n.329+3012G>T | |
6 | g.33443594C= | CA1620014698 | SYNGAP1,SYNGAP1-AS1 | c.2784C= (p.Gly928=) c.3042C= (p.Gly1014=) c.3000C= (p.Gly1000=) c.2865C= (p.Gly955=) c.2997C= (p.Gly999=) n.329+3012G= | |
6 | g.33443594C>G | CA450104202 | SYNGAP1,SYNGAP1-AS1 | c.2784C>G (p.Gly928=) c.3042C>G (p.Gly1014=) c.3000C>G (p.Gly1000=) c.2865C>G (p.Gly955=) c.2997C>G (p.Gly999=) n.329+3012G>C | |
6 | g.33443594C>T | CA137073282 | SYNGAP1,SYNGAP1-AS1 | c.2784C>T (p.Gly928=) c.3042C>T (p.Gly1014=) c.3000C>T (p.Gly1000=) c.2865C>T (p.Gly955=) c.2997C>T (p.Gly999=) n.329+3012G>A | dbSNP gnomAD v4 |
6 | g.33443594_33443595insGACC | CA2678276581 | SYNGAP1,SYNGAP1-AS1 | c.2784_2785insGACC (p.Thr929AspfsTer3) c.3042_3043insGACC (p.Thr1015AspfsTer3) c.3000_3001insGACC (p.Thr1001AspfsTer3) c.2865_2866insGACC (p.Thr956AspfsTer3) c.2997_2998insGACC (p.Thr1000AspfsTer3) n.329+3012_329+3013insGTCG | gnomAD v4 |
6 | g.33443595_33443596del | CA2678276582 | SYNGAP1,SYNGAP1-AS1 | c.2785_2786del (p.Thr929Ter) c.3043_3044del (p.Thr1015Ter) c.3001_3002del (p.Thr1001Ter) c.2866_2867del (p.Thr956Ter) c.2998_2999del (p.Thr1000Ter) n.329+3011_329+3012del | gnomAD v4 |
6 | g.33443595A>C | CA363630663 | SYNGAP1,SYNGAP1-AS1 | c.2785A>C (p.Thr929Pro) c.3043A>C (p.Thr1015Pro) c.3001A>C (p.Thr1001Pro) c.2866A>C (p.Thr956Pro) c.2998A>C (p.Thr1000Pro) n.329+3011T>G | |
6 | g.33443595A>G | CA363630666 | SYNGAP1,SYNGAP1-AS1 | c.2785A>G (p.Thr929Ala) c.3043A>G (p.Thr1015Ala) c.3001A>G (p.Thr1001Ala) c.2866A>G (p.Thr956Ala) c.2998A>G (p.Thr1000Ala) n.329+3011T>C | |
6 | g.33443595A>T | CA363630671 | SYNGAP1,SYNGAP1-AS1 | c.2785A>T (p.Thr929Ser) c.3043A>T (p.Thr1015Ser) c.3001A>T (p.Thr1001Ser) c.2866A>T (p.Thr956Ser) c.2998A>T (p.Thr1000Ser) n.329+3011T>A | |
6 | g.33443596C>A | CA363630683 | SYNGAP1,SYNGAP1-AS1 | c.2786C>A (p.Thr929Asn) c.3044C>A (p.Thr1015Asn) c.3002C>A (p.Thr1001Asn) c.2867C>A (p.Thr956Asn) c.2999C>A (p.Thr1000Asn) n.329+3010G>T | |
6 | g.33443596C>G | CA363630679 | SYNGAP1,SYNGAP1-AS1 | c.2786C>G (p.Thr929Ser) c.3044C>G (p.Thr1015Ser) c.3002C>G (p.Thr1001Ser) c.2867C>G (p.Thr956Ser) c.2999C>G (p.Thr1000Ser) n.329+3010G>C | |
6 | g.33443596C>T | CA363630676 | SYNGAP1,SYNGAP1-AS1 | c.2786C>T (p.Thr929Ile) c.3044C>T (p.Thr1015Ile) c.3002C>T (p.Thr1001Ile) c.2867C>T (p.Thr956Ile) c.2999C>T (p.Thr1000Ile) n.329+3010G>A | |
6 | g.33443596_33443598del | CA2678276588 | SYNGAP1,SYNGAP1-AS1 | c.2786_2788del (p.Thr929_Asp930delinsAsn) c.3044_3046del (p.Thr1015_Asp1016delinsAsn) c.3002_3004del (p.Thr1001_Asp1002delinsAsn) c.2867_2869del (p.Thr956_Asp957delinsAsn) c.2999_3001del (p.Thr1000_Asp1001delinsAsn) n.329+3008_329+3010del | gnomAD v4 |
6 | g.33443597del | CA2678276597 | SYNGAP1,SYNGAP1-AS1 | c.2787del (p.Asp930ThrfsTer?) c.3045del (p.Asp1016ThrfsTer?) c.3003del (p.Asp1002ThrfsTer?) c.2868del (p.Asp957ThrfsTer?) c.3000del (p.Asp1001ThrfsTer?) n.329+3009del | gnomAD v4 |
6 | g.33443597T>A | CA450104207 | SYNGAP1,SYNGAP1-AS1 | c.2787T>A (p.Thr929=) c.3045T>A (p.Thr1015=) c.3003T>A (p.Thr1001=) c.2868T>A (p.Thr956=) c.3000T>A (p.Thr1000=) n.329+3009A>T | gnomAD v4 |
6 | g.33443597T>C | CA3758977 | SYNGAP1,SYNGAP1-AS1 | c.2787T>C (p.Thr929=) c.3045T>C (p.Thr1015=) c.3003T>C (p.Thr1001=) c.2868T>C (p.Thr956=) c.3000T>C (p.Thr1000=) n.329+3009A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443597T>G | CA450104206 | SYNGAP1,SYNGAP1-AS1 | c.2787T>G (p.Thr929=) c.3045T>G (p.Thr1015=) c.3003T>G (p.Thr1001=) c.2868T>G (p.Thr956=) c.3000T>G (p.Thr1000=) n.329+3009A>C | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.33443597T= | CA1620014699 | SYNGAP1,SYNGAP1-AS1 | c.2787T= (p.Thr929=) c.3045T= (p.Thr1015=) c.3003T= (p.Thr1001=) c.2868T= (p.Thr956=) c.3000T= (p.Thr1000=) n.329+3009A= | |
6 | g.33443597_33443598del | CA2678276595 | SYNGAP1,SYNGAP1-AS1 | c.2787_2788del (p.Asp930LeufsTer?) c.3045_3046del (p.Asp1016LeufsTer?) c.3003_3004del (p.Asp1002LeufsTer?) c.2868_2869del (p.Asp957LeufsTer?) c.3000_3001del (p.Asp1001LeufsTer?) n.329+3008_329+3009del | gnomAD v4 |
6 | g.33443597_33443598insC | CA2678276598 | SYNGAP1,SYNGAP1-AS1 | c.2787_2788insC (p.Asp930ArgfsTer?) c.3045_3046insC (p.Asp1016ArgfsTer?) c.3003_3004insC (p.Asp1002ArgfsTer?) c.2868_2869insC (p.Asp957ArgfsTer?) c.3000_3001insC (p.Asp1001ArgfsTer?) n.329+3008_329+3009insG | gnomAD v4 |
6 | g.33443598G>A | CA363630701 | SYNGAP1,SYNGAP1-AS1 | c.2788G>A (p.Asp930Asn) c.3046G>A (p.Asp1016Asn) c.3004G>A (p.Asp1002Asn) c.2869G>A (p.Asp957Asn) c.3001G>A (p.Asp1001Asn) n.329+3008C>T | COSMIC COSMIC |
6 | g.33443598G>C | CA363630691 | SYNGAP1,SYNGAP1-AS1 | c.2788G>C (p.Asp930His) c.3046G>C (p.Asp1016His) c.3004G>C (p.Asp1002His) c.2869G>C (p.Asp957His) c.3001G>C (p.Asp1001His) n.329+3008C>G | gnomAD v4 |
6 | g.33443598G>T | CA363630697 | SYNGAP1,SYNGAP1-AS1 | c.2788G>T (p.Asp930Tyr) c.3046G>T (p.Asp1016Tyr) c.3004G>T (p.Asp1002Tyr) c.2869G>T (p.Asp957Tyr) c.3001G>T (p.Asp1001Tyr) n.329+3008C>A | |
6 | g.33443598_33443600del | CA2678276600 | SYNGAP1,SYNGAP1-AS1 | c.2788_2790del (p.Asp930del) c.3046_3048del (p.Asp1016del) c.3004_3006del (p.Asp1002del) c.2869_2871del (p.Asp957del) c.3001_3003del (p.Asp1001del) n.329+3006_329+3008del | gnomAD v4 |
6 | g.33443598_33443606del | CA2770567229 | SYNGAP1,SYNGAP1-AS1 | c.2788_2796del (p.Asp930_Thr932del) c.3046_3054del (p.Asp1016_Thr1018del) c.3004_3012del (p.Asp1002_Thr1004del) c.2869_2877del (p.Asp957_Thr959del) c.3001_3009del (p.Asp1001_Thr1003del) n.329+3000_329+3008del | |
6 | g.33443599del | CA2678276602 | SYNGAP1,SYNGAP1-AS1 | c.2789del (p.Asp930AlafsTer?) c.3047del (p.Asp1016AlafsTer?) c.3005del (p.Asp1002AlafsTer?) c.2870del (p.Asp957AlafsTer?) c.3002del (p.Asp1001AlafsTer?) n.329+3007del | gnomAD v4 |
6 | g.33443599A>C | CA363630706 | SYNGAP1,SYNGAP1-AS1 | c.2789A>C (p.Asp930Ala) c.3047A>C (p.Asp1016Ala) c.3005A>C (p.Asp1002Ala) c.2870A>C (p.Asp957Ala) c.3002A>C (p.Asp1001Ala) n.329+3007T>G | |
6 | g.33443599A>G | CA363630710 | SYNGAP1,SYNGAP1-AS1 | c.2789A>G (p.Asp930Gly) c.3047A>G (p.Asp1016Gly) c.3005A>G (p.Asp1002Gly) c.2870A>G (p.Asp957Gly) c.3002A>G (p.Asp1001Gly) n.329+3007T>C | |
6 | g.33443599A>T | CA363630714 | SYNGAP1,SYNGAP1-AS1 | c.2789A>T (p.Asp930Val) c.3047A>T (p.Asp1016Val) c.3005A>T (p.Asp1002Val) c.2870A>T (p.Asp957Val) c.3002A>T (p.Asp1001Val) n.329+3007T>A | |
6 | g.33443599dup | CA2770567230 | SYNGAP1,SYNGAP1-AS1 | c.2789dup (p.Asp930GlufsTer?) c.3047dup (p.Asp1016GlufsTer?) c.3005dup (p.Asp1002GlufsTer?) c.2870dup (p.Asp957GlufsTer?) c.3002dup (p.Asp1001GlufsTer?) n.329+3007dup | |
6 | g.33443599_33443600delinsAC | CA1620014700 | SYNGAP1,SYNGAP1-AS1 | c.2789_2790delinsAC (p.Asp930=) c.3047_3048delinsAC (p.Asp1016=) c.3005_3006delinsAC (p.Asp1002=) c.2870_2871delinsAC (p.Asp957=) c.3002_3003delinsAC (p.Asp1001=) n.329+3006_329+3007delinsGT | |
6 | g.33443599_33443601del | CA2678276603 | SYNGAP1,SYNGAP1-AS1 | c.2789_2791del (p.Asp930_Phe931delinsVal) c.3047_3049del (p.Asp1016_Phe1017delinsVal) c.3005_3007del (p.Asp1002_Phe1003delinsVal) c.2870_2872del (p.Asp957_Phe958delinsVal) c.3002_3004del (p.Asp1001_Phe1002delinsVal) n.329+3005_329+3007del | gnomAD v4 |
6 | g.33443599_33443600insAT | CA2770567231 | SYNGAP1,SYNGAP1-AS1 | c.2789_2790insAT (p.Asp930GlufsTer?) c.3047_3048insAT (p.Asp1016GlufsTer?) c.3005_3006insAT (p.Asp1002GlufsTer?) c.2870_2871insAT (p.Asp957GlufsTer?) c.3002_3003insAT (p.Asp1001GlufsTer?) n.329+3006_329+3007insAT | |
6 | g.33443599_33443600insGAT | CA2678276607 | SYNGAP1,SYNGAP1-AS1 | c.2789_2790insGAT (p.Asp930delinsGluIle) c.3047_3048insGAT (p.Asp1016delinsGluIle) c.3005_3006insGAT (p.Asp1002delinsGluIle) c.2870_2871insGAT (p.Asp957delinsGluIle) c.3002_3003insGAT (p.Asp1001delinsGluIle) n.329+3006_329+3007insATC | gnomAD v4 |
6 | g.33443600del | CA566700710 | SYNGAP1,SYNGAP1-AS1 | c.2790del (p.Phe931SerfsTer?) c.3048del (p.Phe1017SerfsTer?) c.3006del (p.Phe1003SerfsTer?) c.2871del (p.Phe958SerfsTer?) c.3003del (p.Phe1002SerfsTer?) n.329+3006del | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443600C>A | CA363630717 | SYNGAP1,SYNGAP1-AS1 | c.2790C>A (p.Asp930Glu) c.3048C>A (p.Asp1016Glu) c.3006C>A (p.Asp1002Glu) c.2871C>A (p.Asp957Glu) c.3003C>A (p.Asp1001Glu) n.329+3006G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443600C= | CA1620014701 | SYNGAP1,SYNGAP1-AS1 | c.2790C= (p.Asp930=) c.3048C= (p.Asp1016=) c.3006C= (p.Asp1002=) c.2871C= (p.Asp957=) c.3003C= (p.Asp1001=) n.329+3006G= | |
6 | g.33443600C>G | CA363630726 | SYNGAP1,SYNGAP1-AS1 | c.2790C>G (p.Asp930Glu) c.3048C>G (p.Asp1016Glu) c.3006C>G (p.Asp1002Glu) c.2871C>G (p.Asp957Glu) c.3003C>G (p.Asp1001Glu) n.329+3006G>C | |
6 | g.33443600C>T | CA137073290 | SYNGAP1,SYNGAP1-AS1 | c.2790C>T (p.Asp930=) c.3048C>T (p.Asp1016=) c.3006C>T (p.Asp1002=) c.2871C>T (p.Asp957=) c.3003C>T (p.Asp1001=) n.329+3006G>A | dbSNP |
6 | g.33443600_33443601insAA | CA2678276609 | SYNGAP1,SYNGAP1-AS1 | c.2790_2791insAA (p.Phe931AsnfsTer?) c.3048_3049insAA (p.Phe1017AsnfsTer?) c.3006_3007insAA (p.Phe1003AsnfsTer?) c.2871_2872insAA (p.Phe958AsnfsTer?) c.3003_3004insAA (p.Phe1002AsnfsTer?) n.329+3005_329+3006insTT | gnomAD v4 |
6 | g.33443601T>A | CA363630736 | SYNGAP1,SYNGAP1-AS1 | c.2791T>A (p.Phe931Ile) c.3049T>A (p.Phe1017Ile) c.3007T>A (p.Phe1003Ile) c.2872T>A (p.Phe958Ile) c.3004T>A (p.Phe1002Ile) n.329+3005A>T | |
6 | g.33443601T>C | CA363630729 | SYNGAP1,SYNGAP1-AS1 | c.2791T>C (p.Phe931Leu) c.3049T>C (p.Phe1017Leu) c.3007T>C (p.Phe1003Leu) c.2872T>C (p.Phe958Leu) c.3004T>C (p.Phe1002Leu) n.329+3005A>G | |
6 | g.33443601T>G | CA363630732 | SYNGAP1,SYNGAP1-AS1 | c.2791T>G (p.Phe931Val) c.3049T>G (p.Phe1017Val) c.3007T>G (p.Phe1003Val) c.2872T>G (p.Phe958Val) c.3004T>G (p.Phe1002Val) n.329+3005A>C | |
6 | g.33443601_33443602del | CA2770567232 | SYNGAP1,SYNGAP1-AS1 | c.2791_2792del (p.Phe931HisfsTer?) c.3049_3050del (p.Phe1017HisfsTer?) c.3007_3008del (p.Phe1003HisfsTer?) c.2872_2873del (p.Phe958HisfsTer?) c.3004_3005del (p.Phe1002HisfsTer?) n.329+3004_329+3005del | |
6 | g.33443601_33443602insATTA | CA2678276613 | SYNGAP1,SYNGAP1-AS1 | c.2791_2792insATTA (p.Phe931TyrfsTer?) c.3049_3050insATTA (p.Phe1017TyrfsTer?) c.3007_3008insATTA (p.Phe1003TyrfsTer?) c.2872_2873insATTA (p.Phe958TyrfsTer?) c.3004_3005insATTA (p.Phe1002TyrfsTer?) n.329+3004_329+3005insTAAT | gnomAD v4 |
6 | g.33443601_33443602insACACGC | CA2678276612 | SYNGAP1,SYNGAP1-AS1 | c.2791_2792insACACGC (p.Phe931delinsTyrThrLeu) c.3049_3050insACACGC (p.Phe1017delinsTyrThrLeu) c.3007_3008insACACGC (p.Phe1003delinsTyrThrLeu) c.2872_2873insACACGC (p.Phe958delinsTyrThrLeu) c.3004_3005insACACGC (p.Phe1002delinsTyrThrLeu) n.329+3004_329+3005insGCGTGT | gnomAD v4 |
6 | g.33443602T>A | CA363630739 | SYNGAP1,SYNGAP1-AS1 | c.2792T>A (p.Phe931Tyr) c.3050T>A (p.Phe1017Tyr) c.3008T>A (p.Phe1003Tyr) c.2873T>A (p.Phe958Tyr) c.3005T>A (p.Phe1002Tyr) n.329+3004A>T | gnomAD v4 |
6 | g.33443602T>C | CA363630744 | SYNGAP1,SYNGAP1-AS1 | c.2792T>C (p.Phe931Ser) c.3050T>C (p.Phe1017Ser) c.3008T>C (p.Phe1003Ser) c.2873T>C (p.Phe958Ser) c.3005T>C (p.Phe1002Ser) n.329+3004A>G | |
6 | g.33443602T>G | CA363630747 | SYNGAP1,SYNGAP1-AS1 | c.2792T>G (p.Phe931Cys) c.3050T>G (p.Phe1017Cys) c.3008T>G (p.Phe1003Cys) c.2873T>G (p.Phe958Cys) c.3005T>G (p.Phe1002Cys) n.329+3004A>C | |
6 | g.33443602_33443603insAAT | CA2678276614 | SYNGAP1,SYNGAP1-AS1 | c.2792_2793insAAT (p.Phe931delinsLeuIle) c.3050_3051insAAT (p.Phe1017delinsLeuIle) c.3008_3009insAAT (p.Phe1003delinsLeuIle) c.2873_2874insAAT (p.Phe958delinsLeuIle) c.3005_3006insAAT (p.Phe1002delinsLeuIle) n.329+3004_329+3005insTTA | gnomAD v4 |
6 | g.33443602_33443606del | CA2678276615 | SYNGAP1,SYNGAP1-AS1 | c.2792_2796del (p.Phe931SerfsTer?) c.3050_3054del (p.Phe1017SerfsTer?) c.3008_3012del (p.Phe1003SerfsTer?) c.2873_2877del (p.Phe958SerfsTer?) c.3005_3009del (p.Phe1002SerfsTer?) n.329+3000_329+3004del | gnomAD v4 |
6 | g.33443603C>A | CA363630752 | SYNGAP1,SYNGAP1-AS1 | c.2793C>A (p.Phe931Leu) c.3051C>A (p.Phe1017Leu) c.3009C>A (p.Phe1003Leu) c.2874C>A (p.Phe958Leu) c.3006C>A (p.Phe1002Leu) n.329+3003G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443603C= | CA1620014702 | SYNGAP1,SYNGAP1-AS1 | c.2793C= (p.Phe931=) c.3051C= (p.Phe1017=) c.3009C= (p.Phe1003=) c.2874C= (p.Phe958=) c.3006C= (p.Phe1002=) n.329+3003G= | |
6 | g.33443603C>G | CA363630767 | SYNGAP1,SYNGAP1-AS1 | c.2793C>G (p.Phe931Leu) c.3051C>G (p.Phe1017Leu) c.3009C>G (p.Phe1003Leu) c.2874C>G (p.Phe958Leu) c.3006C>G (p.Phe1002Leu) n.329+3003G>C | |
6 | g.33443603C>T | CA450104208 | SYNGAP1,SYNGAP1-AS1 | c.2793C>T (p.Phe931=) c.3051C>T (p.Phe1017=) c.3009C>T (p.Phe1003=) c.2874C>T (p.Phe958=) c.3006C>T (p.Phe1002=) n.329+3003G>A | |
6 | g.33443604_33443605del | CA2770567233 | SYNGAP1,SYNGAP1-AS1 | c.2794_2795del (p.Thr932ProfsTer?) c.3052_3053del (p.Thr1018ProfsTer?) c.3010_3011del (p.Thr1004ProfsTer?) c.2875_2876del (p.Thr959ProfsTer?) c.3007_3008del (p.Thr1003ProfsTer?) n.329+3002_329+3003del | |
6 | g.33443604_33443607del | CA2678276616 | SYNGAP1,SYNGAP1-AS1 | c.2794_2797del (p.Thr932ValfsTer?) c.3052_3055del (p.Thr1018ValfsTer?) c.3010_3013del (p.Thr1004ValfsTer?) c.2875_2878del (p.Thr959ValfsTer?) c.3007_3010del (p.Thr1003ValfsTer?) n.329+3000_329+3003del | gnomAD v4 |
6 | g.33443604A>C | CA363630772 | SYNGAP1,SYNGAP1-AS1 | c.2794A>C (p.Thr932Pro) c.3052A>C (p.Thr1018Pro) c.3010A>C (p.Thr1004Pro) c.2875A>C (p.Thr959Pro) c.3007A>C (p.Thr1003Pro) n.329+3002T>G | |
6 | g.33443604A>G | CA363630777 | SYNGAP1,SYNGAP1-AS1 | c.2794A>G (p.Thr932Ala) c.3052A>G (p.Thr1018Ala) c.3010A>G (p.Thr1004Ala) c.2875A>G (p.Thr959Ala) c.3007A>G (p.Thr1003Ala) n.329+3002T>C | |
6 | g.33443604A>T | CA363630774 | SYNGAP1,SYNGAP1-AS1 | c.2794A>T (p.Thr932Ser) c.3052A>T (p.Thr1018Ser) c.3010A>T (p.Thr1004Ser) c.2875A>T (p.Thr959Ser) c.3007A>T (p.Thr1003Ser) n.329+3002T>A | |
6 | g.33443604dup | CA2678276617 | SYNGAP1,SYNGAP1-AS1 | c.2794dup (p.Thr932AsnfsTer?) c.3052dup (p.Thr1018AsnfsTer?) c.3010dup (p.Thr1004AsnfsTer?) c.2875dup (p.Thr959AsnfsTer?) c.3007dup (p.Thr1003AsnfsTer?) n.329+3002dup | gnomAD v4 |
6 | g.33443605C>A | CA363630779 | SYNGAP1,SYNGAP1-AS1 | c.2795C>A (p.Thr932Asn) c.3053C>A (p.Thr1018Asn) c.3011C>A (p.Thr1004Asn) c.2876C>A (p.Thr959Asn) c.3008C>A (p.Thr1003Asn) n.329+3001G>T | |
6 | g.33443605C= | CA1620014703 | SYNGAP1,SYNGAP1-AS1 | c.2795C= (p.Thr932=) c.3053C= (p.Thr1018=) c.3011C= (p.Thr1004=) c.2876C= (p.Thr959=) c.3008C= (p.Thr1003=) n.329+3001G= | |
6 | g.33443605C>G | CA363630781 | SYNGAP1,SYNGAP1-AS1 | c.2795C>G (p.Thr932Ser) c.3053C>G (p.Thr1018Ser) c.3011C>G (p.Thr1004Ser) c.2876C>G (p.Thr959Ser) c.3008C>G (p.Thr1003Ser) n.329+3001G>C | |
6 | g.33443605C>T | CA363630784 | SYNGAP1,SYNGAP1-AS1 | c.2795C>T (p.Thr932Ile) c.3053C>T (p.Thr1018Ile) c.3011C>T (p.Thr1004Ile) c.2876C>T (p.Thr959Ile) c.3008C>T (p.Thr1003Ile) n.329+3001G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443607del | CA2739272945 | SYNGAP1,SYNGAP1-AS1 | c.2797del (p.Arg933ValfsTer?) c.3055del (p.Arg1019ValfsTer?) c.3013del (p.Arg1005ValfsTer?) c.2878del (p.Arg960ValfsTer?) c.3010del (p.Arg1004ValfsTer?) n.329+3001del | ClinVar |
6 | g.33443605_33443606insG | CA2678276623 | SYNGAP1,SYNGAP1-AS1 | c.2795_2796insG (p.Arg933ProfsTer?) c.3053_3054insG (p.Arg1019ProfsTer?) c.3011_3012insG (p.Arg1005ProfsTer?) c.2876_2877insG (p.Arg960ProfsTer?) c.3008_3009insG (p.Arg1004ProfsTer?) n.329+3000_329+3001insC | gnomAD v4 |
6 | g.33443605_33443606insGA | CA2678276624 | SYNGAP1,SYNGAP1-AS1 | c.2795_2796insGA (p.Arg933ThrfsTer?) c.3053_3054insGA (p.Arg1019ThrfsTer?) c.3011_3012insGA (p.Arg1005ThrfsTer?) c.2876_2877insGA (p.Arg960ThrfsTer?) c.3008_3009insGA (p.Arg1004ThrfsTer?) n.329+3000_329+3001insTC | gnomAD v4 |
6 | g.33443605_33443606insAGA | CA2678276625 | SYNGAP1,SYNGAP1-AS1 | c.2795_2796insAGA (p.Thr932_Arg933insAsp) c.3053_3054insAGA (p.Thr1018_Arg1019insAsp) c.3011_3012insAGA (p.Thr1004_Arg1005insAsp) c.2876_2877insAGA (p.Thr959_Arg960insAsp) c.3008_3009insAGA (p.Thr1003_Arg1004insAsp) n.329+3000_329+3001insTCT | gnomAD v4 |
6 | g.33443605_33443606insAGAGTAGA | CA2678276626 | SYNGAP1,SYNGAP1-AS1 | c.2795_2796insAGAGTAGA (p.Arg933GlufsTer2) c.3053_3054insAGAGTAGA (p.Arg1019GlufsTer2) c.3011_3012insAGAGTAGA (p.Arg1005GlufsTer2) c.2876_2877insAGAGTAGA (p.Arg960GlufsTer2) c.3008_3009insAGAGTAGA (p.Arg1004GlufsTer2) n.329+3000_329+3001insTCTACTCT | gnomAD v4 |
6 | g.33443606C>A | CA450104209 | SYNGAP1,SYNGAP1-AS1 | c.2796C>A (p.Thr932=) c.3054C>A (p.Thr1018=) c.3012C>A (p.Thr1004=) c.2877C>A (p.Thr959=) c.3009C>A (p.Thr1003=) n.329+3000G>T | |
6 | g.33443606C= | CA1620014704 | SYNGAP1,SYNGAP1-AS1 | c.2796C= (p.Thr932=) c.3054C= (p.Thr1018=) c.3012C= (p.Thr1004=) c.2877C= (p.Thr959=) c.3009C= (p.Thr1003=) n.329+3000G= | |
6 | g.33443606C>G | CA3758978 | SYNGAP1,SYNGAP1-AS1 | c.2796C>G (p.Thr932=) c.3054C>G (p.Thr1018=) c.3012C>G (p.Thr1004=) c.2877C>G (p.Thr959=) c.3009C>G (p.Thr1003=) n.329+3000G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443606C>T | CA450104210 | SYNGAP1,SYNGAP1-AS1 | c.2796C>T (p.Thr932=) c.3054C>T (p.Thr1018=) c.3012C>T (p.Thr1004=) c.2877C>T (p.Thr959=) c.3009C>T (p.Thr1003=) n.329+3000G>A | gnomAD v4 |
6 | g.33443606_33443607insAT | CA2678276640 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insAT (p.Arg933IlefsTer?) c.3054_3055insAT (p.Arg1019IlefsTer?) c.3012_3013insAT (p.Arg1005IlefsTer?) c.2877_2878insAT (p.Arg960IlefsTer?) c.3009_3010insAT (p.Arg1004IlefsTer?) n.329+2999_329+3000insAT | gnomAD v4 |
6 | g.33443606_33443607insTT | CA2678276637 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insTT (p.Arg933PhefsTer?) c.3054_3055insTT (p.Arg1019PhefsTer?) c.3012_3013insTT (p.Arg1005PhefsTer?) c.2877_2878insTT (p.Arg960PhefsTer?) c.3009_3010insTT (p.Arg1004PhefsTer?) n.329+2999_329+3000insAA | gnomAD v4 |
6 | g.33443606_33443607insATT | CA2770567236 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insATT (p.Thr932_Arg933insIle) c.3054_3055insATT (p.Thr1018_Arg1019insIle) c.3012_3013insATT (p.Thr1004_Arg1005insIle) c.2877_2878insATT (p.Thr959_Arg960insIle) c.3009_3010insATT (p.Thr1003_Arg1004insIle) n.329+2999_329+3000insAAT | |
6 | g.33443606_33443607insTTT | CA2678276634 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insTTT (p.Thr932_Arg933insPhe) c.3054_3055insTTT (p.Thr1018_Arg1019insPhe) c.3012_3013insTTT (p.Thr1004_Arg1005insPhe) c.2877_2878insTTT (p.Thr959_Arg960insPhe) c.3009_3010insTTT (p.Thr1003_Arg1004insPhe) n.329+2999_329+3000insAAA | gnomAD v4 |
6 | g.33443606_33443607insGGTTAT | CA2678276639 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insGGTTAT (p.Thr932_Arg933insGlyTyr) c.3054_3055insGGTTAT (p.Thr1018_Arg1019insGlyTyr) c.3012_3013insGGTTAT (p.Thr1004_Arg1005insGlyTyr) c.2877_2878insGGTTAT (p.Thr959_Arg960insGlyTyr) c.3009_3010insGGTTAT (p.Thr1003_Arg1004insGlyTyr) n.329+2999_329+3000insATAACC | gnomAD v4 |
6 | g.33443606_33443607insACAATTT | CA2678276638 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insACAATTT (p.Arg933ThrfsTer?) c.3054_3055insACAATTT (p.Arg1019ThrfsTer?) c.3012_3013insACAATTT (p.Arg1005ThrfsTer?) c.2877_2878insACAATTT (p.Arg960ThrfsTer?) c.3009_3010insACAATTT (p.Arg1004ThrfsTer?) n.329+2999_329+3000insAAATTGT | gnomAD v4 |
6 | g.33443606_33443607insAGGTTGT | CA2770567235 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insAGGTTGT (p.Arg934LeufsTer?) c.3054_3055insAGGTTGT (p.Arg1020LeufsTer?) c.3012_3013insAGGTTGT (p.Arg1006LeufsTer?) c.2877_2878insAGGTTGT (p.Arg961LeufsTer?) c.3009_3010insAGGTTGT (p.Arg1005LeufsTer?) n.329+2999_329+3000insACAACCT | |
6 | g.33443606_33443607insAACTGATT | CA2678276632 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insAACTGATT (p.Arg933AsnfsTer2) c.3054_3055insAACTGATT (p.Arg1019AsnfsTer2) c.3012_3013insAACTGATT (p.Arg1005AsnfsTer2) c.2877_2878insAACTGATT (p.Arg960AsnfsTer2) c.3009_3010insAACTGATT (p.Arg1004AsnfsTer2) n.329+2999_329+3000insAATCAGTT | gnomAD v4 |
6 | g.33443606_33443607insTGTATTCT | CA2678276636 | SYNGAP1,SYNGAP1-AS1 | c.2796_2797insTGTATTCT (p.Arg933CysfsTer?) c.3054_3055insTGTATTCT (p.Arg1019CysfsTer?) c.3012_3013insTGTATTCT (p.Arg1005CysfsTer?) c.2877_2878insTGTATTCT (p.Arg960CysfsTer?) c.3009_3010insTGTATTCT (p.Arg1004CysfsTer?) n.329+2999_329+3000insAGAATACA | gnomAD v4 |
6 | g.33443607C>A | CA363630787 | SYNGAP1,SYNGAP1-AS1 | c.2797C>A (p.Arg933Ser) c.3055C>A (p.Arg1019Ser) c.3013C>A (p.Arg1005Ser) c.2878C>A (p.Arg960Ser) c.3010C>A (p.Arg1004Ser) n.329+2999G>T | COSMIC COSMIC |
6 | g.33443607C= | CA1620014705 | SYNGAP1,SYNGAP1-AS1 | c.2797C= (p.Arg933=) c.3055C= (p.Arg1019=) c.3013C= (p.Arg1005=) c.2878C= (p.Arg960=) c.3010C= (p.Arg1004=) n.329+2999G= | |
6 | g.33443607C>G | CA363630789 | SYNGAP1,SYNGAP1-AS1 | c.2797C>G (p.Arg933Gly) c.3055C>G (p.Arg1019Gly) c.3013C>G (p.Arg1005Gly) c.2878C>G (p.Arg960Gly) c.3010C>G (p.Arg1004Gly) n.329+2999G>C | |
6 | g.33443607C>T | CA3758979 | SYNGAP1,SYNGAP1-AS1 | c.2797C>T (p.Arg933Cys) c.3055C>T (p.Arg1019Cys) c.3013C>T (p.Arg1005Cys) c.2878C>T (p.Arg960Cys) c.3010C>T (p.Arg1004Cys) n.329+2999G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443608G>A | CA3758980 | SYNGAP1,SYNGAP1-AS1 | c.2798G>A (p.Arg933His) c.3056G>A (p.Arg1019His) c.3014G>A (p.Arg1005His) c.2879G>A (p.Arg960His) c.3011G>A (p.Arg1004His) n.329+2998C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443608G>C | CA363630794 | SYNGAP1,SYNGAP1-AS1 | c.2798G>C (p.Arg933Pro) c.3056G>C (p.Arg1019Pro) c.3014G>C (p.Arg1005Pro) c.2879G>C (p.Arg960Pro) c.3011G>C (p.Arg1004Pro) n.329+2998C>G | |
6 | g.33443608G= | CA1620014706 | SYNGAP1,SYNGAP1-AS1 | c.2798G= (p.Arg933=) c.3056G= (p.Arg1019=) c.3014G= (p.Arg1005=) c.2879G= (p.Arg960=) c.3011G= (p.Arg1004=) n.329+2998C= | |
6 | g.33443608G>T | CA363630796 | SYNGAP1,SYNGAP1-AS1 | c.2798G>T (p.Arg933Leu) c.3056G>T (p.Arg1019Leu) c.3014G>T (p.Arg1005Leu) c.2879G>T (p.Arg960Leu) c.3011G>T (p.Arg1004Leu) n.329+2998C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443609T>A | CA450104211 | SYNGAP1,SYNGAP1-AS1 | c.2799T>A (p.Arg933=) c.3057T>A (p.Arg1019=) c.3015T>A (p.Arg1005=) c.2880T>A (p.Arg960=) c.3012T>A (p.Arg1004=) n.329+2997A>T | |
6 | g.33443609T>C | CA450104212 | SYNGAP1,SYNGAP1-AS1 | c.2799T>C (p.Arg933=) c.3057T>C (p.Arg1019=) c.3015T>C (p.Arg1005=) c.2880T>C (p.Arg960=) c.3012T>C (p.Arg1004=) n.329+2997A>G | |
6 | g.33443609T>G | CA450104213 | SYNGAP1,SYNGAP1-AS1 | c.2799T>G (p.Arg933=) c.3057T>G (p.Arg1019=) c.3015T>G (p.Arg1005=) c.2880T>G (p.Arg960=) c.3012T>G (p.Arg1004=) n.329+2997A>C | ClinVar |
6 | g.33443610C>A | CA450104214 | SYNGAP1,SYNGAP1-AS1 | c.2800C>A (p.Arg934=) c.3058C>A (p.Arg1020=) c.3016C>A (p.Arg1006=) c.2881C>A (p.Arg961=) c.3013C>A (p.Arg1005=) n.329+2996G>T | |
6 | g.33443610C= | CA1620014707 | SYNGAP1,SYNGAP1-AS1 | c.2800C= (p.Arg934=) c.3058C= (p.Arg1020=) c.3016C= (p.Arg1006=) c.2881C= (p.Arg961=) c.3013C= (p.Arg1005=) n.329+2996G= | |
6 | g.33443610C>G | CA363630798 | SYNGAP1,SYNGAP1-AS1 | c.2800C>G (p.Arg934Gly) c.3058C>G (p.Arg1020Gly) c.3016C>G (p.Arg1006Gly) c.2881C>G (p.Arg961Gly) c.3013C>G (p.Arg1005Gly) n.329+2996G>C | |
6 | g.33443610C>T | CA3758981 | SYNGAP1,SYNGAP1-AS1 | c.2800C>T (p.Arg934Trp) c.3058C>T (p.Arg1020Trp) c.3016C>T (p.Arg1006Trp) c.2881C>T (p.Arg961Trp) c.3013C>T (p.Arg1005Trp) n.329+2996G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443610_33443611delinsCG | CA1620014708 | SYNGAP1,SYNGAP1-AS1 | c.2800_2801delinsCG (p.Arg934=) c.3058_3059delinsCG (p.Arg1020=) c.3016_3017delinsCG (p.Arg1006=) c.2881_2882delinsCG (p.Arg961=) c.3013_3014delinsCG (p.Arg1005=) n.329+2995_329+2996delinsCG | |
6 | g.33443611G>A | CA363630806 | SYNGAP1,SYNGAP1-AS1 | c.2801G>A (p.Arg934Gln) c.3059G>A (p.Arg1020Gln) c.3017G>A (p.Arg1006Gln) c.2882G>A (p.Arg961Gln) c.3014G>A (p.Arg1005Gln) n.329+2995C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443611G>C | CA363630813 | SYNGAP1,SYNGAP1-AS1 | c.2801G>C (p.Arg934Pro) c.3059G>C (p.Arg1020Pro) c.3017G>C (p.Arg1006Pro) c.2882G>C (p.Arg961Pro) c.3014G>C (p.Arg1005Pro) n.329+2995C>G | |
6 | g.33443611G= | CA1620014709 | SYNGAP1,SYNGAP1-AS1 | c.2801G= (p.Arg934=) c.3059G= (p.Arg1020=) c.3017G= (p.Arg1006=) c.2882G= (p.Arg961=) c.3014G= (p.Arg1005=) n.329+2995C= | |
6 | g.33443611G>T | CA363630809 | SYNGAP1,SYNGAP1-AS1 | c.2801G>T (p.Arg934Leu) c.3059G>T (p.Arg1020Leu) c.3017G>T (p.Arg1006Leu) c.2882G>T (p.Arg961Leu) c.3014G>T (p.Arg1005Leu) n.329+2995C>A | ClinVar dbSNP |
6 | g.33443612del | CA658796747 | SYNGAP1,SYNGAP1-AS1 | c.2802del (p.Gln935SerfsTer?) c.3060del (p.Gln1021SerfsTer?) c.3018del (p.Gln1007SerfsTer?) c.2883del (p.Gln962SerfsTer?) c.3015del (p.Gln1006SerfsTer?) n.329+2995del | ClinVar dbSNP |
6 | g.33443612G>A | CA450104215 | SYNGAP1,SYNGAP1-AS1 | c.2802G>A (p.Arg934=) c.3060G>A (p.Arg1020=) c.3018G>A (p.Arg1006=) c.2883G>A (p.Arg961=) c.3015G>A (p.Arg1005=) n.329+2994C>T | |
6 | g.33443612G>C | CA450104216 | SYNGAP1,SYNGAP1-AS1 | c.2802G>C (p.Arg934=) c.3060G>C (p.Arg1020=) c.3018G>C (p.Arg1006=) c.2883G>C (p.Arg961=) c.3015G>C (p.Arg1005=) n.329+2994C>G | |
6 | g.33443612G>T | CA450104217 | SYNGAP1,SYNGAP1-AS1 | c.2802G>T (p.Arg934=) c.3060G>T (p.Arg1020=) c.3018G>T (p.Arg1006=) c.2883G>T (p.Arg961=) c.3015G>T (p.Arg1005=) n.329+2994C>A | |
6 | g.33443613C>A | CA363630817 | SYNGAP1,SYNGAP1-AS1 | c.2803C>A (p.Gln935Lys) c.3061C>A (p.Gln1021Lys) c.3019C>A (p.Gln1007Lys) c.2884C>A (p.Gln962Lys) c.3016C>A (p.Gln1006Lys) n.329+2993G>T | |
6 | g.33443613C= | CA1620014710 | SYNGAP1,SYNGAP1-AS1 | c.2803C= (p.Gln935=) c.3061C= (p.Gln1021=) c.3019C= (p.Gln1007=) c.2884C= (p.Gln962=) c.3016C= (p.Gln1006=) n.329+2993G= | |
6 | g.33443613C>G | CA363630819 | SYNGAP1,SYNGAP1-AS1 | c.2803C>G (p.Gln935Glu) c.3061C>G (p.Gln1021Glu) c.3019C>G (p.Gln1007Glu) c.2884C>G (p.Gln962Glu) c.3016C>G (p.Gln1006Glu) n.329+2993G>C | |
6 | g.33443613C>T | CA363630820 | SYNGAP1,SYNGAP1-AS1 | c.2803C>T (p.Gln935Ter) c.3061C>T (p.Gln1021Ter) c.3019C>T (p.Gln1007Ter) c.2884C>T (p.Gln962Ter) c.3016C>T (p.Gln1006Ter) n.329+2993G>A | ClinVar dbSNP |
6 | g.33443614A>C | CA363630826 | SYNGAP1,SYNGAP1-AS1 | c.2804A>C (p.Gln935Pro) c.3062A>C (p.Gln1021Pro) c.3020A>C (p.Gln1007Pro) c.2885A>C (p.Gln962Pro) c.3017A>C (p.Gln1006Pro) n.329+2992T>G | |
6 | g.33443614A>G | CA363630828 | SYNGAP1,SYNGAP1-AS1 | c.2804A>G (p.Gln935Arg) c.3062A>G (p.Gln1021Arg) c.3020A>G (p.Gln1007Arg) c.2885A>G (p.Gln962Arg) c.3017A>G (p.Gln1006Arg) n.329+2992T>C | gnomAD v4 |
6 | g.33443614A>T | CA363630831 | SYNGAP1,SYNGAP1-AS1 | c.2804A>T (p.Gln935Leu) c.3062A>T (p.Gln1021Leu) c.3020A>T (p.Gln1007Leu) c.2885A>T (p.Gln962Leu) c.3017A>T (p.Gln1006Leu) n.329+2992T>A | |
6 | g.33443615G>A | CA450104218 | SYNGAP1,SYNGAP1-AS1 | c.2805G>A (p.Gln935=) c.3063G>A (p.Gln1021=) c.3021G>A (p.Gln1007=) c.2886G>A (p.Gln962=) c.3018G>A (p.Gln1006=) n.329+2991C>T | gnomAD v4 |
6 | g.33443615G>C | CA363630835 | SYNGAP1,SYNGAP1-AS1 | c.2805G>C (p.Gln935His) c.3063G>C (p.Gln1021His) c.3021G>C (p.Gln1007His) c.2886G>C (p.Gln962His) c.3018G>C (p.Gln1006His) n.329+2991C>G | |
6 | g.33443615G>T | CA363630847 | SYNGAP1,SYNGAP1-AS1 | c.2805G>T (p.Gln935His) c.3063G>T (p.Gln1021His) c.3021G>T (p.Gln1007His) c.2886G>T (p.Gln962His) c.3018G>T (p.Gln1006His) n.329+2991C>A | |
6 | g.33443616C>A | CA363630851 | SYNGAP1,SYNGAP1-AS1 | c.2806C>A (p.Leu936Ile) c.3064C>A (p.Leu1022Ile) c.3022C>A (p.Leu1008Ile) c.2887C>A (p.Leu963Ile) c.3019C>A (p.Leu1007Ile) n.329+2990G>T | |
6 | g.33443616C= | CA1620014711 | SYNGAP1,SYNGAP1-AS1 | c.2806C= (p.Leu936=) c.3064C= (p.Leu1022=) c.3022C= (p.Leu1008=) c.2887C= (p.Leu963=) c.3019C= (p.Leu1007=) n.329+2990G= | |
6 | g.33443616C>G | CA363630854 | SYNGAP1,SYNGAP1-AS1 | c.2806C>G (p.Leu936Val) c.3064C>G (p.Leu1022Val) c.3022C>G (p.Leu1008Val) c.2887C>G (p.Leu963Val) c.3019C>G (p.Leu1007Val) n.329+2990G>C | |
6 | g.33443616C>T | CA363630856 | SYNGAP1,SYNGAP1-AS1 | c.2806C>T (p.Leu936Phe) c.3064C>T (p.Leu1022Phe) c.3022C>T (p.Leu1008Phe) c.2887C>T (p.Leu963Phe) c.3019C>T (p.Leu1007Phe) n.329+2990G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443617T>A | CA363630866 | SYNGAP1,SYNGAP1-AS1 | c.2807T>A (p.Leu936His) c.3065T>A (p.Leu1022His) c.3023T>A (p.Leu1008His) c.2888T>A (p.Leu963His) c.3020T>A (p.Leu1007His) n.329+2989A>T | |
6 | g.33443617T>C | CA363630863 | SYNGAP1,SYNGAP1-AS1 | c.2807T>C (p.Leu936Pro) c.3065T>C (p.Leu1022Pro) c.3023T>C (p.Leu1008Pro) c.2888T>C (p.Leu963Pro) c.3020T>C (p.Leu1007Pro) n.329+2989A>G | |
6 | g.33443617T>G | CA363630859 | SYNGAP1,SYNGAP1-AS1 | c.2807T>G (p.Leu936Arg) c.3065T>G (p.Leu1022Arg) c.3023T>G (p.Leu1008Arg) c.2888T>G (p.Leu963Arg) c.3020T>G (p.Leu1007Arg) n.329+2989A>C | |
6 | g.33443618T>A | CA450104221 | SYNGAP1,SYNGAP1-AS1 | c.2808T>A (p.Leu936=) c.3066T>A (p.Leu1022=) c.3024T>A (p.Leu1008=) c.2889T>A (p.Leu963=) c.3021T>A (p.Leu1007=) n.329+2988A>T | |
6 | g.33443618T>C | CA450104219 | SYNGAP1,SYNGAP1-AS1 | c.2808T>C (p.Leu936=) c.3066T>C (p.Leu1022=) c.3024T>C (p.Leu1008=) c.2889T>C (p.Leu963=) c.3021T>C (p.Leu1007=) n.329+2988A>G | |
6 | g.33443618T>G | CA450104220 | SYNGAP1,SYNGAP1-AS1 | c.2808T>G (p.Leu936=) c.3066T>G (p.Leu1022=) c.3024T>G (p.Leu1008=) c.2889T>G (p.Leu963=) c.3021T>G (p.Leu1007=) n.329+2988A>C | gnomAD v4 |
6 | g.33443619T>A | CA363630872 | SYNGAP1,SYNGAP1-AS1 | c.2809T>A (p.Ser937Thr) c.3067T>A (p.Ser1023Thr) c.3025T>A (p.Ser1009Thr) c.2890T>A (p.Ser964Thr) c.3022T>A (p.Ser1008Thr) n.329+2987A>T | |
6 | g.33443619T>C | CA363630877 | SYNGAP1,SYNGAP1-AS1 | c.2809T>C (p.Ser937Pro) c.3067T>C (p.Ser1023Pro) c.3025T>C (p.Ser1009Pro) c.2890T>C (p.Ser964Pro) c.3022T>C (p.Ser1008Pro) n.329+2987A>G | gnomAD v4 |
6 | g.33443619T>G | CA363630879 | SYNGAP1,SYNGAP1-AS1 | c.2809T>G (p.Ser937Ala) c.3067T>G (p.Ser1023Ala) c.3025T>G (p.Ser1009Ala) c.2890T>G (p.Ser964Ala) c.3022T>G (p.Ser1008Ala) n.329+2987A>C | |
6 | g.33443620C>A | CA363630881 | SYNGAP1,SYNGAP1-AS1 | c.2810C>A (p.Ser937Ter) c.3068C>A (p.Ser1023Ter) c.3026C>A (p.Ser1009Ter) c.2891C>A (p.Ser964Ter) c.3023C>A (p.Ser1008Ter) n.329+2986G>T | |
6 | g.33443620C>G | CA363630883 | SYNGAP1,SYNGAP1-AS1 | c.2810C>G (p.Ser937Ter) c.3068C>G (p.Ser1023Ter) c.3026C>G (p.Ser1009Ter) c.2891C>G (p.Ser964Ter) c.3023C>G (p.Ser1008Ter) n.329+2986G>C | |
6 | g.33443620C>T | CA363630885 | SYNGAP1,SYNGAP1-AS1 | c.2810C>T (p.Ser937Leu) c.3068C>T (p.Ser1023Leu) c.3026C>T (p.Ser1009Leu) c.2891C>T (p.Ser964Leu) c.3023C>T (p.Ser1008Leu) n.329+2986G>A | |
6 | g.33443621A>C | CA450104222 | SYNGAP1,SYNGAP1-AS1 | c.2811A>C (p.Ser937=) c.3069A>C (p.Ser1023=) c.3027A>C (p.Ser1009=) c.2892A>C (p.Ser964=) c.3024A>C (p.Ser1008=) n.329+2985T>G | |
6 | g.33443621A>G | CA450104223 | SYNGAP1,SYNGAP1-AS1 | c.2811A>G (p.Ser937=) c.3069A>G (p.Ser1023=) c.3027A>G (p.Ser1009=) c.2892A>G (p.Ser964=) c.3024A>G (p.Ser1008=) n.329+2985T>C | |
6 | g.33443621A>T | CA450104224 | SYNGAP1,SYNGAP1-AS1 | c.2811A>T (p.Ser937=) c.3069A>T (p.Ser1023=) c.3027A>T (p.Ser1009=) c.2892A>T (p.Ser964=) c.3024A>T (p.Ser1008=) n.329+2985T>A | |
6 | g.33443622C>A | CA363630888 | SYNGAP1,SYNGAP1-AS1 | c.2812C>A (p.Leu938Ile) c.3070C>A (p.Leu1024Ile) c.3028C>A (p.Leu1010Ile) c.2893C>A (p.Leu965Ile) c.3025C>A (p.Leu1009Ile) n.329+2984G>T | |
6 | g.33443622C>G | CA363630891 | SYNGAP1,SYNGAP1-AS1 | c.2812C>G (p.Leu938Val) c.3070C>G (p.Leu1024Val) c.3028C>G (p.Leu1010Val) c.2893C>G (p.Leu965Val) c.3025C>G (p.Leu1009Val) n.329+2984G>C | |
6 | g.33443622C>T | CA363630895 | SYNGAP1,SYNGAP1-AS1 | c.2812C>T (p.Leu938Phe) c.3070C>T (p.Leu1024Phe) c.3028C>T (p.Leu1010Phe) c.2893C>T (p.Leu965Phe) c.3025C>T (p.Leu1009Phe) n.329+2984G>A | |
6 | g.33443623T>A | CA363630904 | SYNGAP1,SYNGAP1-AS1 | c.2813T>A (p.Leu938His) c.3071T>A (p.Leu1024His) c.3029T>A (p.Leu1010His) c.2894T>A (p.Leu965His) c.3026T>A (p.Leu1009His) n.329+2983A>T | |
6 | g.33443623T>C | CA363630908 | SYNGAP1,SYNGAP1-AS1 | c.2813T>C (p.Leu938Pro) c.3071T>C (p.Leu1024Pro) c.3029T>C (p.Leu1010Pro) c.2894T>C (p.Leu965Pro) c.3026T>C (p.Leu1009Pro) n.329+2983A>G | |
6 | g.33443623T>G | CA363630911 | SYNGAP1,SYNGAP1-AS1 | c.2813T>G (p.Leu938Arg) c.3071T>G (p.Leu1024Arg) c.3029T>G (p.Leu1010Arg) c.2894T>G (p.Leu965Arg) c.3026T>G (p.Leu1009Arg) n.329+2983A>C | |
6 | g.33443624C>A | CA450104225 | SYNGAP1,SYNGAP1-AS1 | c.2814C>A (p.Leu938=) c.3072C>A (p.Leu1024=) c.3030C>A (p.Leu1010=) c.2895C>A (p.Leu965=) c.3027C>A (p.Leu1009=) n.329+2982G>T | |
6 | g.33443624C>G | CA450104226 | SYNGAP1,SYNGAP1-AS1 | c.2814C>G (p.Leu938=) c.3072C>G (p.Leu1024=) c.3030C>G (p.Leu1010=) c.2895C>G (p.Leu965=) c.3027C>G (p.Leu1009=) n.329+2982G>C | |
6 | g.33443624C>T | CA450104227 | SYNGAP1,SYNGAP1-AS1 | c.2814C>T (p.Leu938=) c.3072C>T (p.Leu1024=) c.3030C>T (p.Leu1010=) c.2895C>T (p.Leu965=) c.3027C>T (p.Leu1009=) n.329+2982G>A | dbSNP |
6 | g.33443625C>A | CA363630918 | SYNGAP1,SYNGAP1-AS1 | c.2815C>A (p.Gln939Lys) c.3073C>A (p.Gln1025Lys) c.3031C>A (p.Gln1011Lys) c.2896C>A (p.Gln966Lys) c.3028C>A (p.Gln1010Lys) n.329+2981G>T | |
6 | g.33443625C= | CA1620014712 | SYNGAP1,SYNGAP1-AS1 | c.2815C= (p.Gln939=) c.3073C= (p.Gln1025=) c.3031C= (p.Gln1011=) c.2896C= (p.Gln966=) c.3028C= (p.Gln1010=) n.329+2981G= | |
6 | g.33443625C>G | CA363630916 | SYNGAP1,SYNGAP1-AS1 | c.2815C>G (p.Gln939Glu) c.3073C>G (p.Gln1025Glu) c.3031C>G (p.Gln1011Glu) c.2896C>G (p.Gln966Glu) c.3028C>G (p.Gln1010Glu) n.329+2981G>C | |
6 | g.33443625C>T | CA363630914 | SYNGAP1,SYNGAP1-AS1 | c.2815C>T (p.Gln939Ter) c.3073C>T (p.Gln1025Ter) c.3031C>T (p.Gln1011Ter) c.2896C>T (p.Gln966Ter) c.3028C>T (p.Gln1010Ter) n.329+2981G>A | ClinVar dbSNP |
6 | g.33443626A>C | CA363630922 | SYNGAP1,SYNGAP1-AS1 | c.2816A>C (p.Gln939Pro) c.3074A>C (p.Gln1025Pro) c.3032A>C (p.Gln1011Pro) c.2897A>C (p.Gln966Pro) c.3029A>C (p.Gln1010Pro) n.329+2980T>G | |
6 | g.33443626A>G | CA363630924 | SYNGAP1,SYNGAP1-AS1 | c.2816A>G (p.Gln939Arg) c.3074A>G (p.Gln1025Arg) c.3032A>G (p.Gln1011Arg) c.2897A>G (p.Gln966Arg) c.3029A>G (p.Gln1010Arg) n.329+2980T>C | |
6 | g.33443626A>T | CA363630934 | SYNGAP1,SYNGAP1-AS1 | c.2816A>T (p.Gln939Leu) c.3074A>T (p.Gln1025Leu) c.3032A>T (p.Gln1011Leu) c.2897A>T (p.Gln966Leu) c.3029A>T (p.Gln1010Leu) n.329+2980T>A | |
6 | g.33443627G>A | CA450104228 | SYNGAP1,SYNGAP1-AS1 | c.2817G>A (p.Gln939=) c.3075G>A (p.Gln1025=) c.3033G>A (p.Gln1011=) c.2898G>A (p.Gln966=) c.3030G>A (p.Gln1010=) n.329+2979C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443627G>C | CA363630939 | SYNGAP1,SYNGAP1-AS1 | c.2817G>C (p.Gln939His) c.3075G>C (p.Gln1025His) c.3033G>C (p.Gln1011His) c.2898G>C (p.Gln966His) c.3030G>C (p.Gln1010His) n.329+2979C>G | |
6 | g.33443627G= | CA1620014713 | SYNGAP1,SYNGAP1-AS1 | c.2817G= (p.Gln939=) c.3075G= (p.Gln1025=) c.3033G= (p.Gln1011=) c.2898G= (p.Gln966=) c.3030G= (p.Gln1010=) n.329+2979C= | |
6 | g.33443627G>T | CA363630943 | SYNGAP1,SYNGAP1-AS1 | c.2817G>T (p.Gln939His) c.3075G>T (p.Gln1025His) c.3033G>T (p.Gln1011His) c.2898G>T (p.Gln966His) c.3030G>T (p.Gln1010His) n.329+2979C>A | |
6 | g.33443628G>A | CA363630945 | SYNGAP1,SYNGAP1-AS1 | c.2818G>A (p.Asp940Asn) c.3076G>A (p.Asp1026Asn) c.3034G>A (p.Asp1012Asn) c.2899G>A (p.Asp967Asn) c.3031G>A (p.Asp1011Asn) n.329+2978C>T | |
6 | g.33443628G>C | CA363630946 | SYNGAP1,SYNGAP1-AS1 | c.2818G>C (p.Asp940His) c.3076G>C (p.Asp1026His) c.3034G>C (p.Asp1012His) c.2899G>C (p.Asp967His) c.3031G>C (p.Asp1011His) n.329+2978C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443628G= | CA1620014714 | SYNGAP1,SYNGAP1-AS1 | c.2818G= (p.Asp940=) c.3076G= (p.Asp1026=) c.3034G= (p.Asp1012=) c.2899G= (p.Asp967=) c.3031G= (p.Asp1011=) n.329+2978C= | |
6 | g.33443628G>T | CA363630947 | SYNGAP1,SYNGAP1-AS1 | c.2818G>T (p.Asp940Tyr) c.3076G>T (p.Asp1026Tyr) c.3034G>T (p.Asp1012Tyr) c.2899G>T (p.Asp967Tyr) c.3031G>T (p.Asp1011Tyr) n.329+2978C>A | |
6 | g.33443629A>C | CA363630949 | SYNGAP1,SYNGAP1-AS1 | c.2819A>C (p.Asp940Ala) c.3077A>C (p.Asp1026Ala) c.3035A>C (p.Asp1012Ala) c.2900A>C (p.Asp967Ala) c.3032A>C (p.Asp1011Ala) n.329+2977T>G | |
6 | g.33443629A>G | CA363630952 | SYNGAP1,SYNGAP1-AS1 | c.2819A>G (p.Asp940Gly) c.3077A>G (p.Asp1026Gly) c.3035A>G (p.Asp1012Gly) c.2900A>G (p.Asp967Gly) c.3032A>G (p.Asp1011Gly) n.329+2977T>C | |
6 | g.33443629A>T | CA363630958 | SYNGAP1,SYNGAP1-AS1 | c.2819A>T (p.Asp940Val) c.3077A>T (p.Asp1026Val) c.3035A>T (p.Asp1012Val) c.2900A>T (p.Asp967Val) c.3032A>T (p.Asp1011Val) n.329+2977T>A | |
6 | g.33443630del | CA2573140292 | SYNGAP1,SYNGAP1-AS1 | c.2820del (p.Asp940GlufsTer?) c.3078del (p.Asp1026GlufsTer?) c.3036del (p.Asp1012GlufsTer?) c.2901del (p.Asp967GlufsTer?) c.3033del (p.Asp1011GlufsTer?) n.329+2976del | ClinVar dbSNP |
6 | g.33443630C>A | CA363630963 | SYNGAP1,SYNGAP1-AS1 | c.2820C>A (p.Asp940Glu) c.3078C>A (p.Asp1026Glu) c.3036C>A (p.Asp1012Glu) c.2901C>A (p.Asp967Glu) c.3033C>A (p.Asp1011Glu) n.329+2976G>T | dbSNP |
6 | g.33443630C= | CA1620014715 | SYNGAP1,SYNGAP1-AS1 | c.2820C= (p.Asp940=) c.3078C= (p.Asp1026=) c.3036C= (p.Asp1012=) c.2901C= (p.Asp967=) c.3033C= (p.Asp1011=) n.329+2976G= | |
6 | g.33443630C>G | CA363630964 | SYNGAP1,SYNGAP1-AS1 | c.2820C>G (p.Asp940Glu) c.3078C>G (p.Asp1026Glu) c.3036C>G (p.Asp1012Glu) c.2901C>G (p.Asp967Glu) c.3033C>G (p.Asp1011Glu) n.329+2976G>C | |
6 | g.33443630C>T | CA450104229 | SYNGAP1,SYNGAP1-AS1 | c.2820C>T (p.Asp940=) c.3078C>T (p.Asp1026=) c.3036C>T (p.Asp1012=) c.2901C>T (p.Asp967=) c.3033C>T (p.Asp1011=) n.329+2976G>A | |
6 | g.33443631A>C | CA363630974 | SYNGAP1,SYNGAP1-AS1 | c.2821A>C (p.Asn941His) c.3079A>C (p.Asn1027His) c.3037A>C (p.Asn1013His) c.2902A>C (p.Asn968His) c.3034A>C (p.Asn1012His) n.329+2975T>G | |
6 | g.33443631A>G | CA363630973 | SYNGAP1,SYNGAP1-AS1 | c.2821A>G (p.Asn941Asp) c.3079A>G (p.Asn1027Asp) c.3037A>G (p.Asn1013Asp) c.2902A>G (p.Asn968Asp) c.3034A>G (p.Asn1012Asp) n.329+2975T>C | |
6 | g.33443631A>T | CA363630970 | SYNGAP1,SYNGAP1-AS1 | c.2821A>T (p.Asn941Tyr) c.3079A>T (p.Asn1027Tyr) c.3037A>T (p.Asn1013Tyr) c.2902A>T (p.Asn968Tyr) c.3034A>T (p.Asn1012Tyr) n.329+2975T>A | |
6 | g.33443632A>C | CA363630975 | SYNGAP1,SYNGAP1-AS1 | c.2822A>C (p.Asn941Thr) c.3080A>C (p.Asn1027Thr) c.3038A>C (p.Asn1013Thr) c.2903A>C (p.Asn968Thr) c.3035A>C (p.Asn1012Thr) n.329+2974T>G | |
6 | g.33443632A>G | CA363630976 | SYNGAP1,SYNGAP1-AS1 | c.2822A>G (p.Asn941Ser) c.3080A>G (p.Asn1027Ser) c.3038A>G (p.Asn1013Ser) c.2903A>G (p.Asn968Ser) c.3035A>G (p.Asn1012Ser) n.329+2974T>C | |
6 | g.33443632A>T | CA363630978 | SYNGAP1,SYNGAP1-AS1 | c.2822A>T (p.Asn941Ile) c.3080A>T (p.Asn1027Ile) c.3038A>T (p.Asn1013Ile) c.2903A>T (p.Asn968Ile) c.3035A>T (p.Asn1012Ile) n.329+2974T>A | |
6 | g.33443633C>A | CA363630982 | SYNGAP1,SYNGAP1-AS1 | c.2823C>A (p.Asn941Lys) c.3081C>A (p.Asn1027Lys) c.3039C>A (p.Asn1013Lys) c.2904C>A (p.Asn968Lys) c.3036C>A (p.Asn1012Lys) n.329+2973G>T | |
6 | g.33443633C>G | CA363630988 | SYNGAP1,SYNGAP1-AS1 | c.2823C>G (p.Asn941Lys) c.3081C>G (p.Asn1027Lys) c.3039C>G (p.Asn1013Lys) c.2904C>G (p.Asn968Lys) c.3036C>G (p.Asn1012Lys) n.329+2973G>C | |
6 | g.33443633C>T | CA450104230 | SYNGAP1,SYNGAP1-AS1 | c.2823C>T (p.Asn941=) c.3081C>T (p.Asn1027=) c.3039C>T (p.Asn1013=) c.2904C>T (p.Asn968=) c.3036C>T (p.Asn1012=) n.329+2973G>A | gnomAD v4 |
6 | g.33443634C>A | CA363630992 | SYNGAP1,SYNGAP1-AS1 | c.2824C>A (p.Leu942Met) c.3082C>A (p.Leu1028Met) c.3040C>A (p.Leu1014Met) c.2905C>A (p.Leu969Met) c.3037C>A (p.Leu1013Met) n.329+2972G>T | |
6 | g.33443634C>G | CA363630995 | SYNGAP1,SYNGAP1-AS1 | c.2824C>G (p.Leu942Val) c.3082C>G (p.Leu1028Val) c.3040C>G (p.Leu1014Val) c.2905C>G (p.Leu969Val) c.3037C>G (p.Leu1013Val) n.329+2972G>C | |
6 | g.33443634C>T | CA450104231 | SYNGAP1,SYNGAP1-AS1 | c.2824C>T (p.Leu942=) c.3082C>T (p.Leu1028=) c.3040C>T (p.Leu1014=) c.2905C>T (p.Leu969=) c.3037C>T (p.Leu1013=) n.329+2972G>A | dbSNP |
6 | g.33443634_33443643delinsCTGCAGCACA | CA1620014716 | SYNGAP1,SYNGAP1-AS1 | c.2824_2833delinsCTGCAGCACA (p.Leu942=) c.3082_3091delinsCTGCAGCACA (p.Leu1028=) c.3040_3049delinsCTGCAGCACA (p.Leu1014=) c.2905_2914delinsCTGCAGCACA (p.Leu969=) c.3037_3046delinsCTGCAGCACA (p.Leu1013=) n.329+2963_329+2972delinsTGTGCTGCAG | |
6 | g.33443635T>A | CA363630998 | SYNGAP1,SYNGAP1-AS1 | c.2825T>A (p.Leu942Gln) c.3083T>A (p.Leu1028Gln) c.3041T>A (p.Leu1014Gln) c.2906T>A (p.Leu969Gln) c.3038T>A (p.Leu1013Gln) n.329+2971A>T | |
6 | g.33443635T>C | CA363631001 | SYNGAP1,SYNGAP1-AS1 | c.2825T>C (p.Leu942Pro) c.3083T>C (p.Leu1028Pro) c.3041T>C (p.Leu1014Pro) c.2906T>C (p.Leu969Pro) c.3038T>C (p.Leu1013Pro) n.329+2971A>G | |
6 | g.33443635T>G | CA363631006 | SYNGAP1,SYNGAP1-AS1 | c.2825T>G (p.Leu942Arg) c.3083T>G (p.Leu1028Arg) c.3041T>G (p.Leu1014Arg) c.2906T>G (p.Leu969Arg) c.3038T>G (p.Leu1013Arg) n.329+2971A>C | |
6 | g.33443635_33443636del | CA2770567239 | SYNGAP1,SYNGAP1-AS1 | c.2825_2826del (p.Leu942ProfsTer?) c.3083_3084del (p.Leu1028ProfsTer?) c.3041_3042del (p.Leu1014ProfsTer?) c.2906_2907del (p.Leu969ProfsTer?) c.3038_3039del (p.Leu1013ProfsTer?) n.329+2970_329+2971del | |
6 | g.33443638_33443646del | CA3758982 | SYNGAP1,SYNGAP1-AS1 | c.2828_2836del (p.Gln943_Met945del) c.3086_3094del (p.Gln1029_Met1031del) c.3044_3052del (p.Gln1015_Met1017del) c.2909_2917del (p.Gln970_Met972del) c.3041_3049del (p.Gln1014_Met1016del) n.329+2963_329+2971del | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443636G>A | CA450104232 | SYNGAP1,SYNGAP1-AS1 | c.2826G>A (p.Leu942=) c.3084G>A (p.Leu1028=) c.3042G>A (p.Leu1014=) c.2907G>A (p.Leu969=) c.3039G>A (p.Leu1013=) n.329+2970C>T | |
6 | g.33443636G>C | CA450104233 | SYNGAP1,SYNGAP1-AS1 | c.2826G>C (p.Leu942=) c.3084G>C (p.Leu1028=) c.3042G>C (p.Leu1014=) c.2907G>C (p.Leu969=) c.3039G>C (p.Leu1013=) n.329+2970C>G | |
6 | g.33443636G>T | CA450104234 | SYNGAP1,SYNGAP1-AS1 | c.2826G>T (p.Leu942=) c.3084G>T (p.Leu1028=) c.3042G>T (p.Leu1014=) c.2907G>T (p.Leu969=) c.3039G>T (p.Leu1013=) n.329+2970C>A | |
6 | g.33443637C>A | CA363631014 | SYNGAP1,SYNGAP1-AS1 | c.2827C>A (p.Gln943Lys) c.3085C>A (p.Gln1029Lys) c.3043C>A (p.Gln1015Lys) c.2908C>A (p.Gln970Lys) c.3040C>A (p.Gln1014Lys) n.329+2969G>T | |
6 | g.33443637C= | CA1620014717 | SYNGAP1,SYNGAP1-AS1 | c.2827C= (p.Gln943=) c.3085C= (p.Gln1029=) c.3043C= (p.Gln1015=) c.2908C= (p.Gln970=) c.3040C= (p.Gln1014=) n.329+2969G= | |
6 | g.33443637C>G | CA363631020 | SYNGAP1,SYNGAP1-AS1 | c.2827C>G (p.Gln943Glu) c.3085C>G (p.Gln1029Glu) c.3043C>G (p.Gln1015Glu) c.2908C>G (p.Gln970Glu) c.3040C>G (p.Gln1014Glu) n.329+2969G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443637C>T | CA363631022 | SYNGAP1,SYNGAP1-AS1 | c.2827C>T (p.Gln943Ter) c.3085C>T (p.Gln1029Ter) c.3043C>T (p.Gln1015Ter) c.2908C>T (p.Gln970Ter) c.3040C>T (p.Gln1014Ter) n.329+2969G>A | dbSNP |
6 | g.33443638A>C | CA363631029 | SYNGAP1,SYNGAP1-AS1 | c.2828A>C (p.Gln943Pro) c.3086A>C (p.Gln1029Pro) c.3044A>C (p.Gln1015Pro) c.2909A>C (p.Gln970Pro) c.3041A>C (p.Gln1014Pro) n.329+2968T>G | |
6 | g.33443638A>G | CA363631034 | SYNGAP1,SYNGAP1-AS1 | c.2828A>G (p.Gln943Arg) c.3086A>G (p.Gln1029Arg) c.3044A>G (p.Gln1015Arg) c.2909A>G (p.Gln970Arg) c.3041A>G (p.Gln1014Arg) n.329+2968T>C | |
6 | g.33443638A>T | CA363631026 | SYNGAP1,SYNGAP1-AS1 | c.2828A>T (p.Gln943Leu) c.3086A>T (p.Gln1029Leu) c.3044A>T (p.Gln1015Leu) c.2909A>T (p.Gln970Leu) c.3041A>T (p.Gln1014Leu) n.329+2968T>A | |
6 | g.33443639G>A | CA450104235 | SYNGAP1,SYNGAP1-AS1 | c.2829G>A (p.Gln943=) c.3087G>A (p.Gln1029=) c.3045G>A (p.Gln1015=) c.2910G>A (p.Gln970=) c.3042G>A (p.Gln1014=) n.329+2967C>T | |
6 | g.33443639G>C | CA363631039 | SYNGAP1,SYNGAP1-AS1 | c.2829G>C (p.Gln943His) c.3087G>C (p.Gln1029His) c.3045G>C (p.Gln1015His) c.2910G>C (p.Gln970His) c.3042G>C (p.Gln1014His) n.329+2967C>G | |
6 | g.33443639G= | CA1620014718 | SYNGAP1,SYNGAP1-AS1 | c.2829G= (p.Gln943=) c.3087G= (p.Gln1029=) c.3045G= (p.Gln1015=) c.2910G= (p.Gln970=) c.3042G= (p.Gln1014=) n.329+2967C= | |
6 | g.33443639G>T | CA363631042 | SYNGAP1,SYNGAP1-AS1 | c.2829G>T (p.Gln943His) c.3087G>T (p.Gln1029His) c.3045G>T (p.Gln1015His) c.2910G>T (p.Gln970His) c.3042G>T (p.Gln1014His) n.329+2967C>A | dbSNP |
6 | g.33443640C>A | CA363631044 | SYNGAP1,SYNGAP1-AS1 | c.2830C>A (p.His944Asn) c.3088C>A (p.His1030Asn) c.3046C>A (p.His1016Asn) c.2911C>A (p.His971Asn) c.3043C>A (p.His1015Asn) n.329+2966G>T | |
6 | g.33443640C>G | CA363631046 | SYNGAP1,SYNGAP1-AS1 | c.2830C>G (p.His944Asp) c.3088C>G (p.His1030Asp) c.3046C>G (p.His1016Asp) c.2911C>G (p.His971Asp) c.3043C>G (p.His1015Asp) n.329+2966G>C | gnomAD v4 |
6 | g.33443640C>T | CA363631049 | SYNGAP1,SYNGAP1-AS1 | c.2830C>T (p.His944Tyr) c.3088C>T (p.His1030Tyr) c.3046C>T (p.His1016Tyr) c.2911C>T (p.His971Tyr) c.3043C>T (p.His1015Tyr) n.329+2966G>A | dbSNP |
6 | g.33443641A>C | CA363631071 | SYNGAP1,SYNGAP1-AS1 | c.2831A>C (p.His944Pro) c.3089A>C (p.His1030Pro) c.3047A>C (p.His1016Pro) c.2912A>C (p.His971Pro) c.3044A>C (p.His1015Pro) n.329+2965T>G | |
6 | g.33443641A>G | CA363631066 | SYNGAP1,SYNGAP1-AS1 | c.2831A>G (p.His944Arg) c.3089A>G (p.His1030Arg) c.3047A>G (p.His1016Arg) c.2912A>G (p.His971Arg) c.3044A>G (p.His1015Arg) n.329+2965T>C | |
6 | g.33443641A>T | CA363631062 | SYNGAP1,SYNGAP1-AS1 | c.2831A>T (p.His944Leu) c.3089A>T (p.His1030Leu) c.3047A>T (p.His1016Leu) c.2912A>T (p.His971Leu) c.3044A>T (p.His1015Leu) n.329+2965T>A | |
6 | g.33443642C>A | CA363631076 | SYNGAP1,SYNGAP1-AS1 | c.2832C>A (p.His944Gln) c.3090C>A (p.His1030Gln) c.3048C>A (p.His1016Gln) c.2913C>A (p.His971Gln) c.3045C>A (p.His1015Gln) n.329+2964G>T | |
6 | g.33443642C= | CA1620014719 | SYNGAP1,SYNGAP1-AS1 | c.2832C= (p.His944=) c.3090C= (p.His1030=) c.3048C= (p.His1016=) c.2913C= (p.His971=) c.3045C= (p.His1015=) n.329+2964G= | |
6 | g.33443642C>G | CA363631078 | SYNGAP1,SYNGAP1-AS1 | c.2832C>G (p.His944Gln) c.3090C>G (p.His1030Gln) c.3048C>G (p.His1016Gln) c.2913C>G (p.His971Gln) c.3045C>G (p.His1015Gln) n.329+2964G>C | |
6 | g.33443642C>T | CA3758983 | SYNGAP1,SYNGAP1-AS1 | c.2832C>T (p.His944=) c.3090C>T (p.His1030=) c.3048C>T (p.His1016=) c.2913C>T (p.His971=) c.3045C>T (p.His1015=) n.329+2964G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443643A= | CA1620014720 | SYNGAP1,SYNGAP1-AS1 | c.2833A= (p.Met945=) c.3091A= (p.Met1031=) c.3049A= (p.Met1017=) c.2914A= (p.Met972=) c.3046A= (p.Met1016=) n.329+2963T= | |
6 | g.33443643A>C | CA363631088 | SYNGAP1,SYNGAP1-AS1 | c.2833A>C (p.Met945Leu) c.3091A>C (p.Met1031Leu) c.3049A>C (p.Met1017Leu) c.2914A>C (p.Met972Leu) c.3046A>C (p.Met1016Leu) n.329+2963T>G | |
6 | g.33443643A>G | CA363631101 | SYNGAP1,SYNGAP1-AS1 | c.2833A>G (p.Met945Val) c.3091A>G (p.Met1031Val) c.3049A>G (p.Met1017Val) c.2914A>G (p.Met972Val) c.3046A>G (p.Met1016Val) n.329+2963T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443643A>T | CA363631105 | SYNGAP1,SYNGAP1-AS1 | c.2833A>T (p.Met945Leu) c.3091A>T (p.Met1031Leu) c.3049A>T (p.Met1017Leu) c.2914A>T (p.Met972Leu) c.3046A>T (p.Met1016Leu) n.329+2963T>A | |
6 | g.33443644T>A | CA363631107 | SYNGAP1,SYNGAP1-AS1 | c.2834T>A (p.Met945Lys) c.3092T>A (p.Met1031Lys) c.3050T>A (p.Met1017Lys) c.2915T>A (p.Met972Lys) c.3047T>A (p.Met1016Lys) n.329+2962A>T | |
6 | g.33443644T>C | CA363631112 | SYNGAP1,SYNGAP1-AS1 | c.2834T>C (p.Met945Thr) c.3092T>C (p.Met1031Thr) c.3050T>C (p.Met1017Thr) c.2915T>C (p.Met972Thr) c.3047T>C (p.Met1016Thr) n.329+2962A>G | ClinVar dbSNP gnomAD v4 |
6 | g.33443644T>G | CA363631110 | SYNGAP1,SYNGAP1-AS1 | c.2834T>G (p.Met945Arg) c.3092T>G (p.Met1031Arg) c.3050T>G (p.Met1017Arg) c.2915T>G (p.Met972Arg) c.3047T>G (p.Met1016Arg) n.329+2962A>C | |
6 | g.33443644T= | CA1620014721 | SYNGAP1,SYNGAP1-AS1 | c.2834T= (p.Met945=) c.3092T= (p.Met1031=) c.3050T= (p.Met1017=) c.2915T= (p.Met972=) c.3047T= (p.Met1016=) n.329+2962A= | |
6 | g.33443645G>A | CA363631115 | SYNGAP1,SYNGAP1-AS1 | c.2835G>A (p.Met945Ile) c.3093G>A (p.Met1031Ile) c.3051G>A (p.Met1017Ile) c.2916G>A (p.Met972Ile) c.3048G>A (p.Met1016Ile) n.329+2961C>T | |
6 | g.33443645G>C | CA363631117 | SYNGAP1,SYNGAP1-AS1 | c.2835G>C (p.Met945Ile) c.3093G>C (p.Met1031Ile) c.3051G>C (p.Met1017Ile) c.2916G>C (p.Met972Ile) c.3048G>C (p.Met1016Ile) n.329+2961C>G | |
6 | g.33443645G>T | CA363631121 | SYNGAP1,SYNGAP1-AS1 | c.2835G>T (p.Met945Ile) c.3093G>T (p.Met1031Ile) c.3051G>T (p.Met1017Ile) c.2916G>T (p.Met972Ile) c.3048G>T (p.Met1016Ile) n.329+2961C>A | |
6 | g.33443646C>A | CA363631129 | SYNGAP1,SYNGAP1-AS1 | c.2836C>A (p.Leu946Met) c.3094C>A (p.Leu1032Met) c.3052C>A (p.Leu1018Met) c.2917C>A (p.Leu973Met) c.3049C>A (p.Leu1017Met) n.329+2960G>T | |
6 | g.33443646C>G | CA363631132 | SYNGAP1,SYNGAP1-AS1 | c.2836C>G (p.Leu946Val) c.3094C>G (p.Leu1032Val) c.3052C>G (p.Leu1018Val) c.2917C>G (p.Leu973Val) c.3049C>G (p.Leu1017Val) n.329+2960G>C | |
6 | g.33443646C>T | CA450104236 | SYNGAP1,SYNGAP1-AS1 | c.2836C>T (p.Leu946=) c.3094C>T (p.Leu1032=) c.3052C>T (p.Leu1018=) c.2917C>T (p.Leu973=) c.3049C>T (p.Leu1017=) n.329+2960G>A | |
6 | g.33443647T>A | CA363631139 | SYNGAP1,SYNGAP1-AS1 | c.2837T>A (p.Leu946Gln) c.3095T>A (p.Leu1032Gln) c.3053T>A (p.Leu1018Gln) c.2918T>A (p.Leu973Gln) c.3050T>A (p.Leu1017Gln) n.329+2959A>T | |
6 | g.33443647T>C | CA363631145 | SYNGAP1,SYNGAP1-AS1 | c.2837T>C (p.Leu946Pro) c.3095T>C (p.Leu1032Pro) c.3053T>C (p.Leu1018Pro) c.2918T>C (p.Leu973Pro) c.3050T>C (p.Leu1017Pro) n.329+2959A>G | |
6 | g.33443647T>G | CA363631147 | SYNGAP1,SYNGAP1-AS1 | c.2837T>G (p.Leu946Arg) c.3095T>G (p.Leu1032Arg) c.3053T>G (p.Leu1018Arg) c.2918T>G (p.Leu973Arg) c.3050T>G (p.Leu1017Arg) n.329+2959A>C | |
6 | g.33443648G>A | CA450104237 | SYNGAP1,SYNGAP1-AS1 | c.2838G>A (p.Leu946=) c.3096G>A (p.Leu1032=) c.3054G>A (p.Leu1018=) c.2919G>A (p.Leu973=) c.3051G>A (p.Leu1017=) n.329+2958C>T | |
6 | g.33443648G>C | CA450104239 | SYNGAP1,SYNGAP1-AS1 | c.2838G>C (p.Leu946=) c.3096G>C (p.Leu1032=) c.3054G>C (p.Leu1018=) c.2919G>C (p.Leu973=) c.3051G>C (p.Leu1017=) n.329+2958C>G | gnomAD v4 |
6 | g.33443648G>T | CA450104238 | SYNGAP1,SYNGAP1-AS1 | c.2838G>T (p.Leu946=) c.3096G>T (p.Leu1032=) c.3054G>T (p.Leu1018=) c.2919G>T (p.Leu973=) c.3051G>T (p.Leu1017=) n.329+2958C>A | |
6 | g.33443649T>A | CA363631148 | SYNGAP1,SYNGAP1-AS1 | c.2839T>A (p.Ser947Thr) c.3097T>A (p.Ser1033Thr) c.3055T>A (p.Ser1019Thr) c.2920T>A (p.Ser974Thr) c.3052T>A (p.Ser1018Thr) n.329+2957A>T | |
6 | g.33443649T>C | CA363631149 | SYNGAP1,SYNGAP1-AS1 | c.2839T>C (p.Ser947Pro) c.3097T>C (p.Ser1033Pro) c.3055T>C (p.Ser1019Pro) c.2920T>C (p.Ser974Pro) c.3052T>C (p.Ser1018Pro) n.329+2957A>G | |
6 | g.33443649T>G | CA363631150 | SYNGAP1,SYNGAP1-AS1 | c.2839T>G (p.Ser947Ala) c.3097T>G (p.Ser1033Ala) c.3055T>G (p.Ser1019Ala) c.2920T>G (p.Ser974Ala) c.3052T>G (p.Ser1018Ala) n.329+2957A>C | |
6 | g.33443650C>A | CA363631156 | SYNGAP1,SYNGAP1-AS1 | c.2840C>A (p.Ser947Tyr) c.3098C>A (p.Ser1033Tyr) c.3056C>A (p.Ser1019Tyr) c.2921C>A (p.Ser974Tyr) c.3053C>A (p.Ser1018Tyr) n.329+2956G>T | gnomAD v4 |
6 | g.33443650C>G | CA363631161 | SYNGAP1,SYNGAP1-AS1 | c.2840C>G (p.Ser947Cys) c.3098C>G (p.Ser1033Cys) c.3056C>G (p.Ser1019Cys) c.2921C>G (p.Ser974Cys) c.3053C>G (p.Ser1018Cys) n.329+2956G>C | |
6 | g.33443650C>T | CA363631152 | SYNGAP1,SYNGAP1-AS1 | c.2840C>T (p.Ser947Phe) c.3098C>T (p.Ser1033Phe) c.3056C>T (p.Ser1019Phe) c.2921C>T (p.Ser974Phe) c.3053C>T (p.Ser1018Phe) n.329+2956G>A | |
6 | g.33443651C>A | CA450104242 | SYNGAP1,SYNGAP1-AS1 | c.2841C>A (p.Ser947=) c.3099C>A (p.Ser1033=) c.3057C>A (p.Ser1019=) c.2922C>A (p.Ser974=) c.3054C>A (p.Ser1018=) n.329+2955G>T | |
6 | g.33443651C= | CA1620014722 | SYNGAP1,SYNGAP1-AS1 | c.2841C= (p.Ser947=) c.3099C= (p.Ser1033=) c.3057C= (p.Ser1019=) c.2922C= (p.Ser974=) c.3054C= (p.Ser1018=) n.329+2955G= | |
6 | g.33443651C>G | CA450104241 | SYNGAP1,SYNGAP1-AS1 | c.2841C>G (p.Ser947=) c.3099C>G (p.Ser1033=) c.3057C>G (p.Ser1019=) c.2922C>G (p.Ser974=) c.3054C>G (p.Ser1018=) n.329+2955G>C | |
6 | g.33443651C>T | CA450104240 | SYNGAP1,SYNGAP1-AS1 | c.2841C>T (p.Ser947=) c.3099C>T (p.Ser1033=) c.3057C>T (p.Ser1019=) c.2922C>T (p.Ser974=) c.3054C>T (p.Ser1018=) n.329+2955G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443652C>A | CA363631177 | SYNGAP1,SYNGAP1-AS1 | c.2842C>A (p.Pro948Thr) c.3100C>A (p.Pro1034Thr) c.3058C>A (p.Pro1020Thr) c.2923C>A (p.Pro975Thr) c.3055C>A (p.Pro1019Thr) n.329+2954G>T | |
6 | g.33443652C>G | CA363631172 | SYNGAP1,SYNGAP1-AS1 | c.2842C>G (p.Pro948Ala) c.3100C>G (p.Pro1034Ala) c.3058C>G (p.Pro1020Ala) c.2923C>G (p.Pro975Ala) c.3055C>G (p.Pro1019Ala) n.329+2954G>C | ClinVar |
6 | g.33443652C>T | CA363631179 | SYNGAP1,SYNGAP1-AS1 | c.2842C>T (p.Pro948Ser) c.3100C>T (p.Pro1034Ser) c.3058C>T (p.Pro1020Ser) c.2923C>T (p.Pro975Ser) c.3055C>T (p.Pro1019Ser) n.329+2954G>A | |
6 | g.33443653C>A | CA363631183 | SYNGAP1,SYNGAP1-AS1 | c.2843C>A (p.Pro948His) c.3101C>A (p.Pro1034His) c.3059C>A (p.Pro1020His) c.2924C>A (p.Pro975His) c.3056C>A (p.Pro1019His) n.329+2953G>T | |
6 | g.33443653C>G | CA363631189 | SYNGAP1,SYNGAP1-AS1 | c.2843C>G (p.Pro948Arg) c.3101C>G (p.Pro1034Arg) c.3059C>G (p.Pro1020Arg) c.2924C>G (p.Pro975Arg) c.3056C>G (p.Pro1019Arg) n.329+2953G>C | |
6 | g.33443653C>T | CA363631185 | SYNGAP1,SYNGAP1-AS1 | c.2843C>T (p.Pro948Leu) c.3101C>T (p.Pro1034Leu) c.3059C>T (p.Pro1020Leu) c.2924C>T (p.Pro975Leu) c.3056C>T (p.Pro1019Leu) n.329+2953G>A | |
6 | g.33443654T>A | CA450104243 | SYNGAP1,SYNGAP1-AS1 | c.2844T>A (p.Pro948=) c.3102T>A (p.Pro1034=) c.3060T>A (p.Pro1020=) c.2925T>A (p.Pro975=) c.3057T>A (p.Pro1019=) n.329+2952A>T | |
6 | g.33443654T>C | CA450104245 | SYNGAP1,SYNGAP1-AS1 | c.2844T>C (p.Pro948=) c.3102T>C (p.Pro1034=) c.3060T>C (p.Pro1020=) c.2925T>C (p.Pro975=) c.3057T>C (p.Pro1019=) n.329+2952A>G | |
6 | g.33443654T>G | CA450104244 | SYNGAP1,SYNGAP1-AS1 | c.2844T>G (p.Pro948=) c.3102T>G (p.Pro1034=) c.3060T>G (p.Pro1020=) c.2925T>G (p.Pro975=) c.3057T>G (p.Pro1019=) n.329+2952A>C | |
6 | g.33443655C>A | CA363631196 | SYNGAP1,SYNGAP1-AS1 | c.2845C>A (p.Pro949Thr) c.3103C>A (p.Pro1035Thr) c.3061C>A (p.Pro1021Thr) c.2926C>A (p.Pro976Thr) c.3058C>A (p.Pro1020Thr) n.329+2951G>T | ClinVar |
6 | g.33443655C>G | CA363631205 | SYNGAP1,SYNGAP1-AS1 | c.2845C>G (p.Pro949Ala) c.3103C>G (p.Pro1035Ala) c.3061C>G (p.Pro1021Ala) c.2926C>G (p.Pro976Ala) c.3058C>G (p.Pro1020Ala) n.329+2951G>C | |
6 | g.33443655C>T | CA363631200 | SYNGAP1,SYNGAP1-AS1 | c.2845C>T (p.Pro949Ser) c.3103C>T (p.Pro1035Ser) c.3061C>T (p.Pro1021Ser) c.2926C>T (p.Pro976Ser) c.3058C>T (p.Pro1020Ser) n.329+2951G>A | |
6 | g.33443656C>A | CA363631207 | SYNGAP1,SYNGAP1-AS1 | c.2846C>A (p.Pro949His) c.3104C>A (p.Pro1035His) c.3062C>A (p.Pro1021His) c.2927C>A (p.Pro976His) c.3059C>A (p.Pro1020His) n.329+2950G>T | |
6 | g.33443656C>G | CA363631208 | SYNGAP1,SYNGAP1-AS1 | c.2846C>G (p.Pro949Arg) c.3104C>G (p.Pro1035Arg) c.3062C>G (p.Pro1021Arg) c.2927C>G (p.Pro976Arg) c.3059C>G (p.Pro1020Arg) n.329+2950G>C | |
6 | g.33443656C>T | CA363631209 | SYNGAP1,SYNGAP1-AS1 | c.2846C>T (p.Pro949Leu) c.3104C>T (p.Pro1035Leu) c.3062C>T (p.Pro1021Leu) c.2927C>T (p.Pro976Leu) c.3059C>T (p.Pro1020Leu) n.329+2950G>A | |
6 | g.33443657C>A | CA450104246 | SYNGAP1,SYNGAP1-AS1 | c.2847C>A (p.Pro949=) c.3105C>A (p.Pro1035=) c.3063C>A (p.Pro1021=) c.2928C>A (p.Pro976=) c.3060C>A (p.Pro1020=) n.329+2949G>T | |
6 | g.33443657C>G | CA450104247 | SYNGAP1,SYNGAP1-AS1 | c.2847C>G (p.Pro949=) c.3105C>G (p.Pro1035=) c.3063C>G (p.Pro1021=) c.2928C>G (p.Pro976=) c.3060C>G (p.Pro1020=) n.329+2949G>C | |
6 | g.33443657C>T | CA450104248 | SYNGAP1,SYNGAP1-AS1 | c.2847C>T (p.Pro949=) c.3105C>T (p.Pro1035=) c.3063C>T (p.Pro1021=) c.2928C>T (p.Pro976=) c.3060C>T (p.Pro1020=) n.329+2949G>A | dbSNP |
6 | g.33443658C>A | CA363631210 | SYNGAP1,SYNGAP1-AS1 | c.2848C>A (p.Gln950Lys) c.3106C>A (p.Gln1036Lys) c.3064C>A (p.Gln1022Lys) c.2929C>A (p.Gln977Lys) c.3061C>A (p.Gln1021Lys) n.329+2948G>T | |
6 | g.33443658C= | CA1620014723 | SYNGAP1,SYNGAP1-AS1 | c.2848C= (p.Gln950=) c.3106C= (p.Gln1036=) c.3064C= (p.Gln1022=) c.2929C= (p.Gln977=) c.3061C= (p.Gln1021=) n.329+2948G= | |
6 | g.33443658C>G | CA363631213 | SYNGAP1,SYNGAP1-AS1 | c.2848C>G (p.Gln950Glu) c.3106C>G (p.Gln1036Glu) c.3064C>G (p.Gln1022Glu) c.2929C>G (p.Gln977Glu) c.3061C>G (p.Gln1021Glu) n.329+2948G>C | |
6 | g.33443658C>T | CA363631214 | SYNGAP1,SYNGAP1-AS1 | c.2848C>T (p.Gln950Ter) c.3106C>T (p.Gln1036Ter) c.3064C>T (p.Gln1022Ter) c.2929C>T (p.Gln977Ter) c.3061C>T (p.Gln1021Ter) n.329+2948G>A | dbSNP |
6 | g.33443659A>C | CA363631227 | SYNGAP1,SYNGAP1-AS1 | c.2849A>C (p.Gln950Pro) c.3107A>C (p.Gln1036Pro) c.3065A>C (p.Gln1022Pro) c.2930A>C (p.Gln977Pro) c.3062A>C (p.Gln1021Pro) n.329+2947T>G | |
6 | g.33443659A>G | CA363631220 | SYNGAP1,SYNGAP1-AS1 | c.2849A>G (p.Gln950Arg) c.3107A>G (p.Gln1036Arg) c.3065A>G (p.Gln1022Arg) c.2930A>G (p.Gln977Arg) c.3062A>G (p.Gln1021Arg) n.329+2947T>C | |
6 | g.33443659A>T | CA363631223 | SYNGAP1,SYNGAP1-AS1 | c.2849A>T (p.Gln950Leu) c.3107A>T (p.Gln1036Leu) c.3065A>T (p.Gln1022Leu) c.2930A>T (p.Gln977Leu) c.3062A>T (p.Gln1021Leu) n.329+2947T>A | dbSNP |
6 | g.33443660G>A | CA450104249 | SYNGAP1,SYNGAP1-AS1 | c.2850G>A (p.Gln950=) c.3108G>A (p.Gln1036=) c.3066G>A (p.Gln1022=) c.2931G>A (p.Gln977=) c.3063G>A (p.Gln1021=) n.329+2946C>T | |
6 | g.33443660G>C | CA363631229 | SYNGAP1,SYNGAP1-AS1 | c.2850G>C (p.Gln950His) c.3108G>C (p.Gln1036His) c.3066G>C (p.Gln1022His) c.2931G>C (p.Gln977His) c.3063G>C (p.Gln1021His) n.329+2946C>G | |
6 | g.33443660G= | CA1620014724 | SYNGAP1,SYNGAP1-AS1 | c.2850G= (p.Gln950=) c.3108G= (p.Gln1036=) c.3066G= (p.Gln1022=) c.2931G= (p.Gln977=) c.3063G= (p.Gln1021=) n.329+2946C= | |
6 | g.33443660G>T | CA363631233 | SYNGAP1,SYNGAP1-AS1 | c.2850G>T (p.Gln950His) c.3108G>T (p.Gln1036His) c.3066G>T (p.Gln1022His) c.2931G>T (p.Gln977His) c.3063G>T (p.Gln1021His) n.329+2946C>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443661A>C | CA363631237 | SYNGAP1,SYNGAP1-AS1 | c.2851A>C (p.Ile951Leu) c.3109A>C (p.Ile1037Leu) c.3067A>C (p.Ile1023Leu) c.2932A>C (p.Ile978Leu) c.3064A>C (p.Ile1022Leu) n.329+2945T>G | |
6 | g.33443661A>G | CA363631246 | SYNGAP1,SYNGAP1-AS1 | c.2851A>G (p.Ile951Val) c.3109A>G (p.Ile1037Val) c.3067A>G (p.Ile1023Val) c.2932A>G (p.Ile978Val) c.3064A>G (p.Ile1022Val) n.329+2945T>C | |
6 | g.33443661A>T | CA363631249 | SYNGAP1,SYNGAP1-AS1 | c.2851A>T (p.Ile951Phe) c.3109A>T (p.Ile1037Phe) c.3067A>T (p.Ile1023Phe) c.2932A>T (p.Ile978Phe) c.3064A>T (p.Ile1022Phe) n.329+2945T>A | |
6 | g.33443662T>A | CA363631258 | SYNGAP1,SYNGAP1-AS1 | c.2852T>A (p.Ile951Asn) c.3110T>A (p.Ile1037Asn) c.3068T>A (p.Ile1023Asn) c.2933T>A (p.Ile978Asn) c.3065T>A (p.Ile1022Asn) n.329+2944A>T | |
6 | g.33443662T>C | CA363631268 | SYNGAP1,SYNGAP1-AS1 | c.2852T>C (p.Ile951Thr) c.3110T>C (p.Ile1037Thr) c.3068T>C (p.Ile1023Thr) c.2933T>C (p.Ile978Thr) c.3065T>C (p.Ile1022Thr) n.329+2944A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443662T>G | CA363631261 | SYNGAP1,SYNGAP1-AS1 | c.2852T>G (p.Ile951Ser) c.3110T>G (p.Ile1037Ser) c.3068T>G (p.Ile1023Ser) c.2933T>G (p.Ile978Ser) c.3065T>G (p.Ile1022Ser) n.329+2944A>C | |
6 | g.33443662T= | CA1620014725 | SYNGAP1,SYNGAP1-AS1 | c.2852T= (p.Ile951=) c.3110T= (p.Ile1037=) c.3068T= (p.Ile1023=) c.2933T= (p.Ile978=) c.3065T= (p.Ile1022=) n.329+2944A= | |
6 | g.33443663C>A | CA450104250 | SYNGAP1,SYNGAP1-AS1 | c.2853C>A (p.Ile951=) c.3111C>A (p.Ile1037=) c.3069C>A (p.Ile1023=) c.2934C>A (p.Ile978=) c.3066C>A (p.Ile1022=) n.329+2943G>T | dbSNP |
6 | g.33443663C= | CA1620014726 | SYNGAP1,SYNGAP1-AS1 | c.2853C= (p.Ile951=) c.3111C= (p.Ile1037=) c.3069C= (p.Ile1023=) c.2934C= (p.Ile978=) c.3066C= (p.Ile1022=) n.329+2943G= | |
6 | g.33443663C>G | CA363631271 | SYNGAP1,SYNGAP1-AS1 | c.2853C>G (p.Ile951Met) c.3111C>G (p.Ile1037Met) c.3069C>G (p.Ile1023Met) c.2934C>G (p.Ile978Met) c.3066C>G (p.Ile1022Met) n.329+2943G>C | |
6 | g.33443663C>T | CA450104251 | SYNGAP1,SYNGAP1-AS1 | c.2853C>T (p.Ile951=) c.3111C>T (p.Ile1037=) c.3069C>T (p.Ile1023=) c.2934C>T (p.Ile978=) c.3066C>T (p.Ile1022=) n.329+2943G>A | ClinVar |
6 | g.33443664A>C | CA363631275 | SYNGAP1,SYNGAP1-AS1 | c.2854A>C (p.Thr952Pro) c.3112A>C (p.Thr1038Pro) c.3070A>C (p.Thr1024Pro) c.2935A>C (p.Thr979Pro) c.3067A>C (p.Thr1023Pro) n.329+2942T>G | |
6 | g.33443664A>G | CA363631276 | SYNGAP1,SYNGAP1-AS1 | c.2854A>G (p.Thr952Ala) c.3112A>G (p.Thr1038Ala) c.3070A>G (p.Thr1024Ala) c.2935A>G (p.Thr979Ala) c.3067A>G (p.Thr1023Ala) n.329+2942T>C | |
6 | g.33443664A>T | CA363631277 | SYNGAP1,SYNGAP1-AS1 | c.2854A>T (p.Thr952Ser) c.3112A>T (p.Thr1038Ser) c.3070A>T (p.Thr1024Ser) c.2935A>T (p.Thr979Ser) c.3067A>T (p.Thr1023Ser) n.329+2942T>A | |
6 | g.33443665C>A | CA363631278 | SYNGAP1,SYNGAP1-AS1 | c.2855C>A (p.Thr952Asn) c.3113C>A (p.Thr1038Asn) c.3071C>A (p.Thr1024Asn) c.2936C>A (p.Thr979Asn) c.3068C>A (p.Thr1023Asn) n.329+2941G>T | |
6 | g.33443665C>G | CA363631280 | SYNGAP1,SYNGAP1-AS1 | c.2855C>G (p.Thr952Ser) c.3113C>G (p.Thr1038Ser) c.3071C>G (p.Thr1024Ser) c.2936C>G (p.Thr979Ser) c.3068C>G (p.Thr1023Ser) n.329+2941G>C | |
6 | g.33443665C>T | CA363631283 | SYNGAP1,SYNGAP1-AS1 | c.2855C>T (p.Thr952Ile) c.3113C>T (p.Thr1038Ile) c.3071C>T (p.Thr1024Ile) c.2936C>T (p.Thr979Ile) c.3068C>T (p.Thr1023Ile) n.329+2941G>A | |
6 | g.33443665_33443666insACCCAACA | CA2770567244 | SYNGAP1,SYNGAP1-AS1 | c.2855_2856insACCCAACA (p.Ile953ProfsTer?) c.3113_3114insACCCAACA (p.Ile1039ProfsTer?) c.3071_3072insACCCAACA (p.Ile1025ProfsTer?) c.2936_2937insACCCAACA (p.Ile980ProfsTer?) c.3068_3069insACCCAACA (p.Ile1024ProfsTer?) n.329+2940_329+2941insTGTTGGGT | |
6 | g.33443666C>A | CA450104252 | SYNGAP1,SYNGAP1-AS1 | c.2856C>A (p.Thr952=) c.3114C>A (p.Thr1038=) c.3072C>A (p.Thr1024=) c.2937C>A (p.Thr979=) c.3069C>A (p.Thr1023=) n.329+2940G>T | |
6 | g.33443666C= | CA1620014727 | SYNGAP1,SYNGAP1-AS1 | c.2856C= (p.Thr952=) c.3114C= (p.Thr1038=) c.3072C= (p.Thr1024=) c.2937C= (p.Thr979=) c.3069C= (p.Thr1023=) n.329+2940G= | |
6 | g.33443666C>G | CA450104253 | SYNGAP1,SYNGAP1-AS1 | c.2856C>G (p.Thr952=) c.3114C>G (p.Thr1038=) c.3072C>G (p.Thr1024=) c.2937C>G (p.Thr979=) c.3069C>G (p.Thr1023=) n.329+2940G>C | |
6 | g.33443666C>T | CA3758984 | SYNGAP1,SYNGAP1-AS1 | c.2856C>T (p.Thr952=) c.3114C>T (p.Thr1038=) c.3072C>T (p.Thr1024=) c.2937C>T (p.Thr979=) c.3069C>T (p.Thr1023=) n.329+2940G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |