| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |