Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
6 | g.33443667A>C | CA363631287 | SYNGAP1,SYNGAP1-AS1 | c.2857A>C (p.Ile953Leu) c.3115A>C (p.Ile1039Leu) c.3073A>C (p.Ile1025Leu) c.2938A>C (p.Ile980Leu) c.3070A>C (p.Ile1024Leu) n.329+2939T>G | |
6 | g.33443667A>G | CA363631288 | SYNGAP1,SYNGAP1-AS1 | c.2857A>G (p.Ile953Val) c.3115A>G (p.Ile1039Val) c.3073A>G (p.Ile1025Val) c.2938A>G (p.Ile980Val) c.3070A>G (p.Ile1024Val) n.329+2939T>C | |
6 | g.33443667A>T | CA363631291 | SYNGAP1,SYNGAP1-AS1 | c.2857A>T (p.Ile953Phe) c.3115A>T (p.Ile1039Phe) c.3073A>T (p.Ile1025Phe) c.2938A>T (p.Ile980Phe) c.3070A>T (p.Ile1024Phe) n.329+2939T>A | |
6 | g.33443668T>A | CA363631296 | SYNGAP1,SYNGAP1-AS1 | c.2858T>A (p.Ile953Asn) c.3116T>A (p.Ile1039Asn) c.3074T>A (p.Ile1025Asn) c.2939T>A (p.Ile980Asn) c.3071T>A (p.Ile1024Asn) n.329+2938A>T | |
6 | g.33443668T>C | CA3758985 | SYNGAP1,SYNGAP1-AS1 | c.2858T>C (p.Ile953Thr) c.3116T>C (p.Ile1039Thr) c.3074T>C (p.Ile1025Thr) c.2939T>C (p.Ile980Thr) c.3071T>C (p.Ile1024Thr) n.329+2938A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.33443668T>G | CA363631304 | SYNGAP1,SYNGAP1-AS1 | c.2858T>G (p.Ile953Ser) c.3116T>G (p.Ile1039Ser) c.3074T>G (p.Ile1025Ser) c.2939T>G (p.Ile980Ser) c.3071T>G (p.Ile1024Ser) n.329+2938A>C | |
6 | g.33443668T= | CA1620014728 | SYNGAP1,SYNGAP1-AS1 | c.2858T= (p.Ile953=) c.3116T= (p.Ile1039=) c.3074T= (p.Ile1025=) c.2939T= (p.Ile980=) c.3071T= (p.Ile1024=) n.329+2938A= | |
6 | g.33443669T>A | CA450104254 | SYNGAP1,SYNGAP1-AS1 | c.2859T>A (p.Ile953=) c.3117T>A (p.Ile1039=) c.3075T>A (p.Ile1025=) c.2940T>A (p.Ile980=) c.3072T>A (p.Ile1024=) n.329+2937A>T | |
6 | g.33443669T>C | CA450104255 | SYNGAP1,SYNGAP1-AS1 | c.2859T>C (p.Ile953=) c.3117T>C (p.Ile1039=) c.3075T>C (p.Ile1025=) c.2940T>C (p.Ile980=) c.3072T>C (p.Ile1024=) n.329+2937A>G | gnomAD v4 |
6 | g.33443669T>G | CA363631309 | SYNGAP1,SYNGAP1-AS1 | c.2859T>G (p.Ile953Met) c.3117T>G (p.Ile1039Met) c.3075T>G (p.Ile1025Met) c.2940T>G (p.Ile980Met) c.3072T>G (p.Ile1024Met) n.329+2937A>C | |
6 | g.33443670G>A | CA363631310 | SYNGAP1,SYNGAP1-AS1 | c.2860G>A (p.Gly954Ser) c.3118G>A (p.Gly1040Ser) c.3076G>A (p.Gly1026Ser) c.2941G>A (p.Gly981Ser) c.3073G>A (p.Gly1025Ser) n.329+2936C>T | |
6 | g.33443670G>C | CA363631311 | SYNGAP1,SYNGAP1-AS1 | c.2860G>C (p.Gly954Arg) c.3118G>C (p.Gly1040Arg) c.3076G>C (p.Gly1026Arg) c.2941G>C (p.Gly981Arg) c.3073G>C (p.Gly1025Arg) n.329+2936C>G | |
6 | g.33443670G>T | CA363631312 | SYNGAP1,SYNGAP1-AS1 | c.2860G>T (p.Gly954Cys) c.3118G>T (p.Gly1040Cys) c.3076G>T (p.Gly1026Cys) c.2941G>T (p.Gly981Cys) c.3073G>T (p.Gly1025Cys) n.329+2936C>A | |
6 | g.33443671G>A | CA363631316 | SYNGAP1,SYNGAP1-AS1 | c.2861G>A (p.Gly954Asp) c.3119G>A (p.Gly1040Asp) c.3077G>A (p.Gly1026Asp) c.2942G>A (p.Gly981Asp) c.3074G>A (p.Gly1025Asp) n.329+2935C>T | |
6 | g.33443671G>C | CA363631321 | SYNGAP1,SYNGAP1-AS1 | c.2861G>C (p.Gly954Ala) c.3119G>C (p.Gly1040Ala) c.3077G>C (p.Gly1026Ala) c.2942G>C (p.Gly981Ala) c.3074G>C (p.Gly1025Ala) n.329+2935C>G | |
6 | g.33443671G= | CA1620014729 | SYNGAP1,SYNGAP1-AS1 | c.2861G= (p.Gly954=) c.3119G= (p.Gly1040=) c.3077G= (p.Gly1026=) c.2942G= (p.Gly981=) c.3074G= (p.Gly1025=) n.329+2935C= | |
6 | g.33443671G>T | CA363631324 | SYNGAP1,SYNGAP1-AS1 | c.2861G>T (p.Gly954Val) c.3119G>T (p.Gly1040Val) c.3077G>T (p.Gly1026Val) c.2942G>T (p.Gly981Val) c.3074G>T (p.Gly1025Val) n.329+2935C>A | ClinVar dbSNP gnomAD v4 |
6 | g.33443672T>A | CA450104256 | SYNGAP1,SYNGAP1-AS1 | c.2862T>A (p.Gly954=) c.3120T>A (p.Gly1040=) c.3078T>A (p.Gly1026=) c.2943T>A (p.Gly981=) c.3075T>A (p.Gly1025=) n.329+2934A>T | |
6 | g.33443672T>C | CA450104257 | SYNGAP1,SYNGAP1-AS1 | c.2862T>C (p.Gly954=) c.3120T>C (p.Gly1040=) c.3078T>C (p.Gly1026=) c.2943T>C (p.Gly981=) c.3075T>C (p.Gly1025=) n.329+2934A>G | dbSNP |
6 | g.33443672T>G | CA450104258 | SYNGAP1,SYNGAP1-AS1 | c.2862T>G (p.Gly954=) c.3120T>G (p.Gly1040=) c.3078T>G (p.Gly1026=) c.2943T>G (p.Gly981=) c.3075T>G (p.Gly1025=) n.329+2934A>C | |
6 | g.33443672T= | CA1620014730 | SYNGAP1,SYNGAP1-AS1 | c.2862T= (p.Gly954=) c.3120T= (p.Gly1040=) c.3078T= (p.Gly1026=) c.2943T= (p.Gly981=) c.3075T= (p.Gly1025=) n.329+2934A= | |
6 | g.33443673C>A | CA363631327 | SYNGAP1,SYNGAP1-AS1 | c.2863C>A (p.Pro955Thr) c.3121C>A (p.Pro1041Thr) c.3079C>A (p.Pro1027Thr) c.2944C>A (p.Pro982Thr) c.3076C>A (p.Pro1026Thr) n.329+2933G>T | |
6 | g.33443673C= | CA1620014731 | SYNGAP1,SYNGAP1-AS1 | c.2863C= (p.Pro955=) c.3121C= (p.Pro1041=) c.3079C= (p.Pro1027=) c.2944C= (p.Pro982=) c.3076C= (p.Pro1026=) n.329+2933G= | |
6 | g.33443673C>G | CA363631329 | SYNGAP1,SYNGAP1-AS1 | c.2863C>G (p.Pro955Ala) c.3121C>G (p.Pro1041Ala) c.3079C>G (p.Pro1027Ala) c.2944C>G (p.Pro982Ala) c.3076C>G (p.Pro1026Ala) n.329+2933G>C | |
6 | g.33443673C>T | CA363631331 | SYNGAP1,SYNGAP1-AS1 | c.2863C>T (p.Pro955Ser) c.3121C>T (p.Pro1041Ser) c.3079C>T (p.Pro1027Ser) c.2944C>T (p.Pro982Ser) c.3076C>T (p.Pro1026Ser) n.329+2933G>A | ClinVar dbSNP gnomAD v4 |
6 | g.33443677_33443690del | CA2740091316 | SYNGAP1,SYNGAP1-AS1 | c.2867_2880del (p.Gln956LeufsTer?) c.3125_3138del (p.Gln1042LeufsTer?) c.3083_3096del (p.Gln1028LeufsTer?) c.2948_2961del (p.Gln983LeufsTer?) c.3080_3093del (p.Gln1027LeufsTer?) n.329+2920_329+2933del | ClinVar |
6 | g.33443674C>A | CA363631334 | SYNGAP1,SYNGAP1-AS1 | c.2864C>A (p.Pro955His) c.3122C>A (p.Pro1041His) c.3080C>A (p.Pro1027His) c.2945C>A (p.Pro982His) c.3077C>A (p.Pro1026His) n.329+2932G>T | |
6 | g.33443674C>G | CA363631336 | SYNGAP1,SYNGAP1-AS1 | c.2864C>G (p.Pro955Arg) c.3122C>G (p.Pro1041Arg) c.3080C>G (p.Pro1027Arg) c.2945C>G (p.Pro982Arg) c.3077C>G (p.Pro1026Arg) n.329+2932G>C | |
6 | g.33443674C>T | CA363631337 | SYNGAP1,SYNGAP1-AS1 | c.2864C>T (p.Pro955Leu) c.3122C>T (p.Pro1041Leu) c.3080C>T (p.Pro1027Leu) c.2945C>T (p.Pro982Leu) c.3077C>T (p.Pro1026Leu) n.329+2932G>A | |
6 | g.33443675C>A | CA450104259 | SYNGAP1,SYNGAP1-AS1 | c.2865C>A (p.Pro955=) c.3123C>A (p.Pro1041=) c.3081C>A (p.Pro1027=) c.2946C>A (p.Pro982=) c.3078C>A (p.Pro1026=) n.329+2931G>T | ClinVar gnomAD v4 |
6 | g.33443675C>G | CA450104261 | SYNGAP1,SYNGAP1-AS1 | c.2865C>G (p.Pro955=) c.3123C>G (p.Pro1041=) c.3081C>G (p.Pro1027=) c.2946C>G (p.Pro982=) c.3078C>G (p.Pro1026=) n.329+2931G>C | |
6 | g.33443675C>T | CA450104260 | SYNGAP1,SYNGAP1-AS1 | c.2865C>T (p.Pro955=) c.3123C>T (p.Pro1041=) c.3081C>T (p.Pro1027=) c.2946C>T (p.Pro982=) c.3078C>T (p.Pro1026=) n.329+2931G>A | dbSNP |
6 | g.33443676C>A | CA363631340 | SYNGAP1,SYNGAP1-AS1 | c.2866C>A (p.Gln956Lys) c.3124C>A (p.Gln1042Lys) c.3082C>A (p.Gln1028Lys) c.2947C>A (p.Gln983Lys) c.3079C>A (p.Gln1027Lys) n.329+2930G>T | |
6 | g.33443676C= | CA1620014732 | SYNGAP1,SYNGAP1-AS1 | c.2866C= (p.Gln956=) c.3124C= (p.Gln1042=) c.3082C= (p.Gln1028=) c.2947C= (p.Gln983=) c.3079C= (p.Gln1027=) n.329+2930G= | |
6 | g.33443676C>G | CA363631348 | SYNGAP1,SYNGAP1-AS1 | c.2866C>G (p.Gln956Glu) c.3124C>G (p.Gln1042Glu) c.3082C>G (p.Gln1028Glu) c.2947C>G (p.Gln983Glu) c.3079C>G (p.Gln1027Glu) n.329+2930G>C | |
6 | g.33443676C>T | CA363631344 | SYNGAP1,SYNGAP1-AS1 | c.2866C>T (p.Gln956Ter) c.3124C>T (p.Gln1042Ter) c.3082C>T (p.Gln1028Ter) c.2947C>T (p.Gln983Ter) c.3079C>T (p.Gln1027Ter) n.329+2930G>A | ClinVar dbSNP |
6 | g.33443677A= | CA1620014733 | SYNGAP1,SYNGAP1-AS1 | c.2867A= (p.Gln956=) c.3125A= (p.Gln1042=) c.3083A= (p.Gln1028=) c.2948A= (p.Gln983=) c.3080A= (p.Gln1027=) n.329+2929T= | |
6 | g.33443677A>C | CA363631350 | SYNGAP1,SYNGAP1-AS1 | c.2867A>C (p.Gln956Pro) c.3125A>C (p.Gln1042Pro) c.3083A>C (p.Gln1028Pro) c.2948A>C (p.Gln983Pro) c.3080A>C (p.Gln1027Pro) n.329+2929T>G | |
6 | g.33443677A>G | CA363631352 | SYNGAP1,SYNGAP1-AS1 | c.2867A>G (p.Gln956Arg) c.3125A>G (p.Gln1042Arg) c.3083A>G (p.Gln1028Arg) c.2948A>G (p.Gln983Arg) c.3080A>G (p.Gln1027Arg) n.329+2929T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443677A>T | CA363631356 | SYNGAP1,SYNGAP1-AS1 | c.2867A>T (p.Gln956Leu) c.3125A>T (p.Gln1042Leu) c.3083A>T (p.Gln1028Leu) c.2948A>T (p.Gln983Leu) c.3080A>T (p.Gln1027Leu) n.329+2929T>A | |
6 | g.33443678G>A | CA450104262 | SYNGAP1,SYNGAP1-AS1 | c.2868G>A (p.Gln956=) c.3126G>A (p.Gln1042=) c.3084G>A (p.Gln1028=) c.2949G>A (p.Gln983=) c.3081G>A (p.Gln1027=) n.329+2928C>T | |
6 | g.33443678G>C | CA363631360 | SYNGAP1,SYNGAP1-AS1 | c.2868G>C (p.Gln956His) c.3126G>C (p.Gln1042His) c.3084G>C (p.Gln1028His) c.2949G>C (p.Gln983His) c.3081G>C (p.Gln1027His) n.329+2928C>G | |
6 | g.33443678G>T | CA363631363 | SYNGAP1,SYNGAP1-AS1 | c.2868G>T (p.Gln956His) c.3126G>T (p.Gln1042His) c.3084G>T (p.Gln1028His) c.2949G>T (p.Gln983His) c.3081G>T (p.Gln1027His) n.329+2928C>A | |
6 | g.33443679A>C | CA450104263 | SYNGAP1,SYNGAP1-AS1 | c.2869A>C (p.Arg957=) c.3127A>C (p.Arg1043=) c.3085A>C (p.Arg1029=) c.2950A>C (p.Arg984=) c.3082A>C (p.Arg1028=) n.329+2927T>G | |
6 | g.33443679A>G | CA363631372 | SYNGAP1,SYNGAP1-AS1 | c.2869A>G (p.Arg957Gly) c.3127A>G (p.Arg1043Gly) c.3085A>G (p.Arg1029Gly) c.2950A>G (p.Arg984Gly) c.3082A>G (p.Arg1028Gly) n.329+2927T>C | |
6 | g.33443679A>T | CA363631375 | SYNGAP1,SYNGAP1-AS1 | c.2869A>T (p.Arg957Trp) c.3127A>T (p.Arg1043Trp) c.3085A>T (p.Arg1029Trp) c.2950A>T (p.Arg984Trp) c.3082A>T (p.Arg1028Trp) n.329+2927T>A | |
6 | g.33443680G>A | CA3758986 | SYNGAP1,SYNGAP1-AS1 | c.2870G>A (p.Arg957Lys) c.3128G>A (p.Arg1043Lys) c.3086G>A (p.Arg1029Lys) c.2951G>A (p.Arg984Lys) c.3083G>A (p.Arg1028Lys) n.329+2926C>T | dbSNP ExAC gnomAD v2 |
6 | g.33443680G>C | CA363631386 | SYNGAP1,SYNGAP1-AS1 | c.2870G>C (p.Arg957Thr) c.3128G>C (p.Arg1043Thr) c.3086G>C (p.Arg1029Thr) c.2951G>C (p.Arg984Thr) c.3083G>C (p.Arg1028Thr) n.329+2926C>G | |
6 | g.33443680G= | CA1620014734 | SYNGAP1,SYNGAP1-AS1 | c.2870G= (p.Arg957=) c.3128G= (p.Arg1043=) c.3086G= (p.Arg1029=) c.2951G= (p.Arg984=) c.3083G= (p.Arg1028=) n.329+2926C= | |
6 | g.33443680G>T | CA363631389 | SYNGAP1,SYNGAP1-AS1 | c.2870G>T (p.Arg957Met) c.3128G>T (p.Arg1043Met) c.3086G>T (p.Arg1029Met) c.2951G>T (p.Arg984Met) c.3083G>T (p.Arg1028Met) n.329+2926C>A | |
6 | g.33443681G>A | CA450104264 | SYNGAP1,SYNGAP1-AS1 | c.2871G>A (p.Arg957=) c.3129G>A (p.Arg1043=) c.3087G>A (p.Arg1029=) c.2952G>A (p.Arg984=) c.3084G>A (p.Arg1028=) n.329+2925C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443681G>C | CA363631390 | SYNGAP1,SYNGAP1-AS1 | c.2871G>C (p.Arg957Ser) c.3129G>C (p.Arg1043Ser) c.3087G>C (p.Arg1029Ser) c.2952G>C (p.Arg984Ser) c.3084G>C (p.Arg1028Ser) n.329+2925C>G | |
6 | g.33443681G= | CA1620014735 | SYNGAP1,SYNGAP1-AS1 | c.2871G= (p.Arg957=) c.3129G= (p.Arg1043=) c.3087G= (p.Arg1029=) c.2952G= (p.Arg984=) c.3084G= (p.Arg1028=) n.329+2925C= | |
6 | g.33443681G>T | CA363631391 | SYNGAP1,SYNGAP1-AS1 | c.2871G>T (p.Arg957Ser) c.3129G>T (p.Arg1043Ser) c.3087G>T (p.Arg1029Ser) c.2952G>T (p.Arg984Ser) c.3084G>T (p.Arg1028Ser) n.329+2925C>A | gnomAD v4 |
6 | g.33443682C>A | CA363631393 | SYNGAP1,SYNGAP1-AS1 | c.2872C>A (p.Pro958Thr) c.3130C>A (p.Pro1044Thr) c.3088C>A (p.Pro1030Thr) c.2953C>A (p.Pro985Thr) c.3085C>A (p.Pro1029Thr) n.329+2924G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443682C= | CA1620014736 | SYNGAP1,SYNGAP1-AS1 | c.2872C= (p.Pro958=) c.3130C= (p.Pro1044=) c.3088C= (p.Pro1030=) c.2953C= (p.Pro985=) c.3085C= (p.Pro1029=) n.329+2924G= | |
6 | g.33443682C>G | CA363631406 | SYNGAP1,SYNGAP1-AS1 | c.2872C>G (p.Pro958Ala) c.3130C>G (p.Pro1044Ala) c.3088C>G (p.Pro1030Ala) c.2953C>G (p.Pro985Ala) c.3085C>G (p.Pro1029Ala) n.329+2924G>C | |
6 | g.33443682C>T | CA363631394 | SYNGAP1,SYNGAP1-AS1 | c.2872C>T (p.Pro958Ser) c.3130C>T (p.Pro1044Ser) c.3088C>T (p.Pro1030Ser) c.2953C>T (p.Pro985Ser) c.3085C>T (p.Pro1029Ser) n.329+2924G>A | |
6 | g.33443683C>A | CA363631409 | SYNGAP1,SYNGAP1-AS1 | c.2873C>A (p.Pro958Gln) c.3131C>A (p.Pro1044Gln) c.3089C>A (p.Pro1030Gln) c.2954C>A (p.Pro985Gln) c.3086C>A (p.Pro1029Gln) n.329+2923G>T | |
6 | g.33443683C>G | CA363631410 | SYNGAP1,SYNGAP1-AS1 | c.2873C>G (p.Pro958Arg) c.3131C>G (p.Pro1044Arg) c.3089C>G (p.Pro1030Arg) c.2954C>G (p.Pro985Arg) c.3086C>G (p.Pro1029Arg) n.329+2923G>C | |
6 | g.33443683C>T | CA363631412 | SYNGAP1,SYNGAP1-AS1 | c.2873C>T (p.Pro958Leu) c.3131C>T (p.Pro1044Leu) c.3089C>T (p.Pro1030Leu) c.2954C>T (p.Pro985Leu) c.3086C>T (p.Pro1029Leu) n.329+2923G>A | |
6 | g.33443684A>C | CA450104267 | SYNGAP1,SYNGAP1-AS1 | c.2874A>C (p.Pro958=) c.3132A>C (p.Pro1044=) c.3090A>C (p.Pro1030=) c.2955A>C (p.Pro985=) c.3087A>C (p.Pro1029=) n.329+2922T>G | |
6 | g.33443684A>G | CA450104265 | SYNGAP1,SYNGAP1-AS1 | c.2874A>G (p.Pro958=) c.3132A>G (p.Pro1044=) c.3090A>G (p.Pro1030=) c.2955A>G (p.Pro985=) c.3087A>G (p.Pro1029=) n.329+2922T>C | |
6 | g.33443684A>T | CA450104266 | SYNGAP1,SYNGAP1-AS1 | c.2874A>T (p.Pro958=) c.3132A>T (p.Pro1044=) c.3090A>T (p.Pro1030=) c.2955A>T (p.Pro985=) c.3087A>T (p.Pro1029=) n.329+2922T>A | |
6 | g.33443685del | CA2573140293 | SYNGAP1,SYNGAP1-AS1 | c.2875del (p.Ala959ProfsTer?) c.3133del (p.Ala1045ProfsTer?) c.3091del (p.Ala1031ProfsTer?) c.2956del (p.Ala986ProfsTer?) c.3088del (p.Ala1030ProfsTer?) n.329+2921del | ClinVar dbSNP |
6 | g.33443685G>A | CA363631418 | SYNGAP1,SYNGAP1-AS1 | c.2875G>A (p.Ala959Thr) c.3133G>A (p.Ala1045Thr) c.3091G>A (p.Ala1031Thr) c.2956G>A (p.Ala986Thr) c.3088G>A (p.Ala1030Thr) n.329+2921C>T | |
6 | g.33443685G>C | CA363631423 | SYNGAP1,SYNGAP1-AS1 | c.2875G>C (p.Ala959Pro) c.3133G>C (p.Ala1045Pro) c.3091G>C (p.Ala1031Pro) c.2956G>C (p.Ala986Pro) c.3088G>C (p.Ala1030Pro) n.329+2921C>G | |
6 | g.33443685G>T | CA363631427 | SYNGAP1,SYNGAP1-AS1 | c.2875G>T (p.Ala959Ser) c.3133G>T (p.Ala1045Ser) c.3091G>T (p.Ala1031Ser) c.2956G>T (p.Ala986Ser) c.3088G>T (p.Ala1030Ser) n.329+2921C>A | |
6 | g.33443686C>A | CA363631432 | SYNGAP1,SYNGAP1-AS1 | c.2876C>A (p.Ala959Asp) c.3134C>A (p.Ala1045Asp) c.3092C>A (p.Ala1031Asp) c.2957C>A (p.Ala986Asp) c.3089C>A (p.Ala1030Asp) n.329+2920G>T | |
6 | g.33443686C= | CA1620014737 | SYNGAP1,SYNGAP1-AS1 | c.2876C= (p.Ala959=) c.3134C= (p.Ala1045=) c.3092C= (p.Ala1031=) c.2957C= (p.Ala986=) c.3089C= (p.Ala1030=) n.329+2920G= | |
6 | g.33443686C>G | CA3758987 | SYNGAP1,SYNGAP1-AS1 | c.2876C>G (p.Ala959Gly) c.3134C>G (p.Ala1045Gly) c.3092C>G (p.Ala1031Gly) c.2957C>G (p.Ala986Gly) c.3089C>G (p.Ala1030Gly) n.329+2920G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.33443686C>T | CA363631437 | SYNGAP1,SYNGAP1-AS1 | c.2876C>T (p.Ala959Val) c.3134C>T (p.Ala1045Val) c.3092C>T (p.Ala1031Val) c.2957C>T (p.Ala986Val) c.3089C>T (p.Ala1030Val) n.329+2920G>A | |
6 | g.33443690dup | CA2838032718 | SYNGAP1,SYNGAP1-AS1 | c.2880dup (p.Ser961LeufsTer?) c.3138dup (p.Ser1047LeufsTer?) c.3096dup (p.Ser1033LeufsTer?) c.2961dup (p.Ser988LeufsTer?) c.3093dup (p.Ser1032LeufsTer?) n.329+2920dup | |
6 | g.33443690del | CA2499218229 | SYNGAP1,SYNGAP1-AS1 | c.2880del (p.Ser961GlnfsTer?) c.3138del (p.Ser1047GlnfsTer?) c.3096del (p.Ser1033GlnfsTer?) c.2961del (p.Ser988GlnfsTer?) c.3093del (p.Ser1032GlnfsTer?) n.329+2920del | ClinVar dbSNP |
6 | g.33443687C>A | CA450104268 | SYNGAP1,SYNGAP1-AS1 | c.2877C>A (p.Ala959=) c.3135C>A (p.Ala1045=) c.3093C>A (p.Ala1031=) c.2958C>A (p.Ala986=) c.3090C>A (p.Ala1030=) n.329+2919G>T | |
6 | g.33443687C= | CA1620014738 | SYNGAP1,SYNGAP1-AS1 | c.2877C= (p.Ala959=) c.3135C= (p.Ala1045=) c.3093C= (p.Ala1031=) c.2958C= (p.Ala986=) c.3090C= (p.Ala1030=) n.329+2919G= | |
6 | g.33443687C>G | CA450104269 | SYNGAP1,SYNGAP1-AS1 | c.2877C>G (p.Ala959=) c.3135C>G (p.Ala1045=) c.3093C>G (p.Ala1031=) c.2958C>G (p.Ala986=) c.3090C>G (p.Ala1030=) n.329+2919G>C | |
6 | g.33443687C>T | CA450104270 | SYNGAP1,SYNGAP1-AS1 | c.2877C>T (p.Ala959=) c.3135C>T (p.Ala1045=) c.3093C>T (p.Ala1031=) c.2958C>T (p.Ala986=) c.3090C>T (p.Ala1030=) n.329+2919G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443688C>A | CA363631442 | SYNGAP1,SYNGAP1-AS1 | c.2878C>A (p.Pro960Thr) c.3136C>A (p.Pro1046Thr) c.3094C>A (p.Pro1032Thr) c.2959C>A (p.Pro987Thr) c.3091C>A (p.Pro1031Thr) n.329+2918G>T | |
6 | g.33443688C= | CA1620014739 | SYNGAP1,SYNGAP1-AS1 | c.2878C= (p.Pro960=) c.3136C= (p.Pro1046=) c.3094C= (p.Pro1032=) c.2959C= (p.Pro987=) c.3091C= (p.Pro1031=) n.329+2918G= | |
6 | g.33443688C>G | CA363631445 | SYNGAP1,SYNGAP1-AS1 | c.2878C>G (p.Pro960Ala) c.3136C>G (p.Pro1046Ala) c.3094C>G (p.Pro1032Ala) c.2959C>G (p.Pro987Ala) c.3091C>G (p.Pro1031Ala) n.329+2918G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443688C>T | CA363631448 | SYNGAP1,SYNGAP1-AS1 | c.2878C>T (p.Pro960Ser) c.3136C>T (p.Pro1046Ser) c.3094C>T (p.Pro1032Ser) c.2959C>T (p.Pro987Ser) c.3091C>T (p.Pro1031Ser) n.329+2918G>A | |
6 | g.33443688_33443689delinsTA | CA645559127 | SYNGAP1,SYNGAP1-AS1 | c.2878_2879delinsTA (p.Pro960Tyr) c.3136_3137delinsTA (p.Pro1046Tyr) c.3094_3095delinsTA (p.Pro1032Tyr) c.2959_2960delinsTA (p.Pro987Tyr) c.3091_3092delinsTA (p.Pro1031Tyr) n.329+2917_329+2918delinsTA | COSMIC COSMIC |
6 | g.33443689C>A | CA363631449 | SYNGAP1,SYNGAP1-AS1 | c.2879C>A (p.Pro960His) c.3137C>A (p.Pro1046His) c.3095C>A (p.Pro1032His) c.2960C>A (p.Pro987His) c.3092C>A (p.Pro1031His) n.329+2917G>T | |
6 | g.33443689C>G | CA363631453 | SYNGAP1,SYNGAP1-AS1 | c.2879C>G (p.Pro960Arg) c.3137C>G (p.Pro1046Arg) c.3095C>G (p.Pro1032Arg) c.2960C>G (p.Pro987Arg) c.3092C>G (p.Pro1031Arg) n.329+2917G>C | |
6 | g.33443689C>T | CA363631450 | SYNGAP1,SYNGAP1-AS1 | c.2879C>T (p.Pro960Leu) c.3137C>T (p.Pro1046Leu) c.3095C>T (p.Pro1032Leu) c.2960C>T (p.Pro987Leu) c.3092C>T (p.Pro1031Leu) n.329+2917G>A | gnomAD v4 |
6 | g.33443690C>A | CA450104271 | SYNGAP1,SYNGAP1-AS1 | c.2880C>A (p.Pro960=) c.3138C>A (p.Pro1046=) c.3096C>A (p.Pro1032=) c.2961C>A (p.Pro987=) c.3093C>A (p.Pro1031=) n.329+2916G>T | |
6 | g.33443690C>G | CA450104273 | SYNGAP1,SYNGAP1-AS1 | c.2880C>G (p.Pro960=) c.3138C>G (p.Pro1046=) c.3096C>G (p.Pro1032=) c.2961C>G (p.Pro987=) c.3093C>G (p.Pro1031=) n.329+2916G>C | |
6 | g.33443690C>T | CA450104272 | SYNGAP1,SYNGAP1-AS1 | c.2880C>T (p.Pro960=) c.3138C>T (p.Pro1046=) c.3096C>T (p.Pro1032=) c.2961C>T (p.Pro987=) c.3093C>T (p.Pro1031=) n.329+2916G>A | |
6 | g.33443691T>A | CA363631457 | SYNGAP1,SYNGAP1-AS1 | c.2881T>A (p.Ser961Thr) c.3139T>A (p.Ser1047Thr) c.3097T>A (p.Ser1033Thr) c.2962T>A (p.Ser988Thr) c.3094T>A (p.Ser1032Thr) n.329+2915A>T | |
6 | g.33443691T>C | CA363631461 | SYNGAP1,SYNGAP1-AS1 | c.2881T>C (p.Ser961Pro) c.3139T>C (p.Ser1047Pro) c.3097T>C (p.Ser1033Pro) c.2962T>C (p.Ser988Pro) c.3094T>C (p.Ser1032Pro) n.329+2915A>G | dbSNP |
6 | g.33443691T>G | CA363631467 | SYNGAP1,SYNGAP1-AS1 | c.2881T>G (p.Ser961Ala) c.3139T>G (p.Ser1047Ala) c.3097T>G (p.Ser1033Ala) c.2962T>G (p.Ser988Ala) c.3094T>G (p.Ser1032Ala) n.329+2915A>C | |
6 | g.33443691T= | CA1620014740 | SYNGAP1,SYNGAP1-AS1 | c.2881T= (p.Ser961=) c.3139T= (p.Ser1047=) c.3097T= (p.Ser1033=) c.2962T= (p.Ser988=) c.3094T= (p.Ser1032=) n.329+2915A= | |
6 | g.33443692C>A | CA363631482 | SYNGAP1,SYNGAP1-AS1 | c.2882C>A (p.Ser961Ter) c.3140C>A (p.Ser1047Ter) c.3098C>A (p.Ser1033Ter) c.2963C>A (p.Ser988Ter) c.3095C>A (p.Ser1032Ter) n.329+2914G>T | |
6 | g.33443692C>G | CA363631501 | SYNGAP1,SYNGAP1-AS1 | c.2882C>G (p.Ser961Ter) c.3140C>G (p.Ser1047Ter) c.3098C>G (p.Ser1033Ter) c.2963C>G (p.Ser988Ter) c.3095C>G (p.Ser1032Ter) n.329+2914G>C | |
6 | g.33443692C>T | CA363631507 | SYNGAP1,SYNGAP1-AS1 | c.2882C>T (p.Ser961Leu) c.3140C>T (p.Ser1047Leu) c.3098C>T (p.Ser1033Leu) c.2963C>T (p.Ser988Leu) c.3095C>T (p.Ser1032Leu) n.329+2914G>A | gnomAD v4 |
6 | g.33443693A>C | CA450104274 | SYNGAP1,SYNGAP1-AS1 | c.2883A>C (p.Ser961=) c.3141A>C (p.Ser1047=) c.3099A>C (p.Ser1033=) c.2964A>C (p.Ser988=) c.3096A>C (p.Ser1032=) n.329+2913T>G | |
6 | g.33443693A>G | CA450104275 | SYNGAP1,SYNGAP1-AS1 | c.2883A>G (p.Ser961=) c.3141A>G (p.Ser1047=) c.3099A>G (p.Ser1033=) c.2964A>G (p.Ser988=) c.3096A>G (p.Ser1032=) n.329+2913T>C | |
6 | g.33443693A>T | CA450104276 | SYNGAP1,SYNGAP1-AS1 | c.2883A>T (p.Ser961=) c.3141A>T (p.Ser1047=) c.3099A>T (p.Ser1033=) c.2964A>T (p.Ser988=) c.3096A>T (p.Ser1032=) n.329+2913T>A | gnomAD v4 |
6 | g.33443693_33443694del | CA2573140294 | SYNGAP1,SYNGAP1-AS1 | c.2883_2884del (p.Gly962AlafsTer?) c.3141_3142del (p.Gly1048AlafsTer?) c.3099_3100del (p.Gly1034AlafsTer?) c.2964_2965del (p.Gly989AlafsTer?) c.3096_3097del (p.Gly1033AlafsTer?) n.329+2912_329+2913del | ClinVar dbSNP |
6 | g.33443694G>A | CA363631520 | SYNGAP1,SYNGAP1-AS1 | c.2884G>A (p.Gly962Arg) c.3142G>A (p.Gly1048Arg) c.3100G>A (p.Gly1034Arg) c.2965G>A (p.Gly989Arg) c.3097G>A (p.Gly1033Arg) n.329+2912C>T | |
6 | g.33443694G>C | CA363631522 | SYNGAP1,SYNGAP1-AS1 | c.2884G>C (p.Gly962Arg) c.3142G>C (p.Gly1048Arg) c.3100G>C (p.Gly1034Arg) c.2965G>C (p.Gly989Arg) c.3097G>C (p.Gly1033Arg) n.329+2912C>G | ClinVar |
6 | g.33443694G= | CA1620014741 | SYNGAP1,SYNGAP1-AS1 | c.2884G= (p.Gly962=) c.3142G= (p.Gly1048=) c.3100G= (p.Gly1034=) c.2965G= (p.Gly989=) c.3097G= (p.Gly1033=) n.329+2912C= | |
6 | g.33443694G>T | CA137073346 | SYNGAP1,SYNGAP1-AS1 | c.2884G>T (p.Gly962Trp) c.3142G>T (p.Gly1048Trp) c.3100G>T (p.Gly1034Trp) c.2965G>T (p.Gly989Trp) c.3097G>T (p.Gly1033Trp) n.329+2912C>A | dbSNP |
6 | g.33443695G>A | CA363631527 | SYNGAP1,SYNGAP1-AS1 | c.2885G>A (p.Gly962Glu) c.3143G>A (p.Gly1048Glu) c.3101G>A (p.Gly1034Glu) c.2966G>A (p.Gly989Glu) c.3098G>A (p.Gly1033Glu) n.329+2911C>T | |
6 | g.33443695G>C | CA363631529 | SYNGAP1,SYNGAP1-AS1 | c.2885G>C (p.Gly962Ala) c.3143G>C (p.Gly1048Ala) c.3101G>C (p.Gly1034Ala) c.2966G>C (p.Gly989Ala) c.3098G>C (p.Gly1033Ala) n.329+2911C>G | |
6 | g.33443695G>T | CA363631525 | SYNGAP1,SYNGAP1-AS1 | c.2885G>T (p.Gly962Val) c.3143G>T (p.Gly1048Val) c.3101G>T (p.Gly1034Val) c.2966G>T (p.Gly989Val) c.3098G>T (p.Gly1033Val) n.329+2911C>A | |
6 | g.33443696G>A | CA450104277 | SYNGAP1,SYNGAP1-AS1 | c.2886G>A (p.Gly962=) c.3144G>A (p.Gly1048=) c.3102G>A (p.Gly1034=) c.2967G>A (p.Gly989=) c.3099G>A (p.Gly1033=) n.329+2910C>T | |
6 | g.33443696G>C | CA450104278 | SYNGAP1,SYNGAP1-AS1 | c.2886G>C (p.Gly962=) c.3144G>C (p.Gly1048=) c.3102G>C (p.Gly1034=) c.2967G>C (p.Gly989=) c.3099G>C (p.Gly1033=) n.329+2910C>G | |
6 | g.33443696G>T | CA450104279 | SYNGAP1,SYNGAP1-AS1 | c.2886G>T (p.Gly962=) c.3144G>T (p.Gly1048=) c.3102G>T (p.Gly1034=) c.2967G>T (p.Gly989=) c.3099G>T (p.Gly1033=) n.329+2910C>A | |
6 | g.33443697C>A | CA363631533 | SYNGAP1,SYNGAP1-AS1 | c.2887C>A (p.Pro963Thr) c.3145C>A (p.Pro1049Thr) c.3103C>A (p.Pro1035Thr) c.2968C>A (p.Pro990Thr) c.3100C>A (p.Pro1034Thr) n.329+2909G>T | |
6 | g.33443697C= | CA1620014742 | SYNGAP1,SYNGAP1-AS1 | c.2887C= (p.Pro963=) c.3145C= (p.Pro1049=) c.3103C= (p.Pro1035=) c.2968C= (p.Pro990=) c.3100C= (p.Pro1034=) n.329+2909G= | |
6 | g.33443697C>G | CA363631535 | SYNGAP1,SYNGAP1-AS1 | c.2887C>G (p.Pro963Ala) c.3145C>G (p.Pro1049Ala) c.3103C>G (p.Pro1035Ala) c.2968C>G (p.Pro990Ala) c.3100C>G (p.Pro1034Ala) n.329+2909G>C | |
6 | g.33443697C>T | CA363631536 | SYNGAP1,SYNGAP1-AS1 | c.2887C>T (p.Pro963Ser) c.3145C>T (p.Pro1049Ser) c.3103C>T (p.Pro1035Ser) c.2968C>T (p.Pro990Ser) c.3100C>T (p.Pro1034Ser) n.329+2909G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443698C>A | CA363631539 | SYNGAP1,SYNGAP1-AS1 | c.2888C>A (p.Pro963His) c.3146C>A (p.Pro1049His) c.3104C>A (p.Pro1035His) c.2969C>A (p.Pro990His) c.3101C>A (p.Pro1034His) n.329+2908G>T | |
6 | g.33443698C>G | CA363631543 | SYNGAP1,SYNGAP1-AS1 | c.2888C>G (p.Pro963Arg) c.3146C>G (p.Pro1049Arg) c.3104C>G (p.Pro1035Arg) c.2969C>G (p.Pro990Arg) c.3101C>G (p.Pro1034Arg) n.329+2908G>C | |
6 | g.33443698C>T | CA363631551 | SYNGAP1,SYNGAP1-AS1 | c.2888C>T (p.Pro963Leu) c.3146C>T (p.Pro1049Leu) c.3104C>T (p.Pro1035Leu) c.2969C>T (p.Pro990Leu) c.3101C>T (p.Pro1034Leu) n.329+2908G>A | |
6 | g.33443699T>A | CA450104282 | SYNGAP1,SYNGAP1-AS1 | c.2889T>A (p.Pro963=) c.3147T>A (p.Pro1049=) c.3105T>A (p.Pro1035=) c.2970T>A (p.Pro990=) c.3102T>A (p.Pro1034=) n.329+2907A>T | |
6 | g.33443699T>C | CA450104281 | SYNGAP1,SYNGAP1-AS1 | c.2889T>C (p.Pro963=) c.3147T>C (p.Pro1049=) c.3105T>C (p.Pro1035=) c.2970T>C (p.Pro990=) c.3102T>C (p.Pro1034=) n.329+2907A>G | |
6 | g.33443699T>G | CA450104280 | SYNGAP1,SYNGAP1-AS1 | c.2889T>G (p.Pro963=) c.3147T>G (p.Pro1049=) c.3105T>G (p.Pro1035=) c.2970T>G (p.Pro990=) c.3102T>G (p.Pro1034=) n.329+2907A>C | |
6 | g.33443700G>A | CA363631554 | SYNGAP1,SYNGAP1-AS1 | c.2890G>A (p.Gly964Arg) c.3148G>A (p.Gly1050Arg) c.3106G>A (p.Gly1036Arg) c.2971G>A (p.Gly991Arg) c.3103G>A (p.Gly1035Arg) n.329+2906C>T | dbSNP gnomAD v4 |
6 | g.33443700G>C | CA363631559 | SYNGAP1,SYNGAP1-AS1 | c.2890G>C (p.Gly964Arg) c.3148G>C (p.Gly1050Arg) c.3106G>C (p.Gly1036Arg) c.2971G>C (p.Gly991Arg) c.3103G>C (p.Gly1035Arg) n.329+2906C>G | |
6 | g.33443700G>T | CA363631560 | SYNGAP1,SYNGAP1-AS1 | c.2890G>T (p.Gly964Ter) c.3148G>T (p.Gly1050Ter) c.3106G>T (p.Gly1036Ter) c.2971G>T (p.Gly991Ter) c.3103G>T (p.Gly1035Ter) n.329+2906C>A | |
6 | g.33443701G>A | CA363631561 | SYNGAP1,SYNGAP1-AS1 | c.2891G>A (p.Gly964Glu) c.3149G>A (p.Gly1050Glu) c.3107G>A (p.Gly1036Glu) c.2972G>A (p.Gly991Glu) c.3104G>A (p.Gly1035Glu) n.329+2905C>T | |
6 | g.33443701G>C | CA363631563 | SYNGAP1,SYNGAP1-AS1 | c.2891G>C (p.Gly964Ala) c.3149G>C (p.Gly1050Ala) c.3107G>C (p.Gly1036Ala) c.2972G>C (p.Gly991Ala) c.3104G>C (p.Gly1035Ala) n.329+2905C>G | |
6 | g.33443701G>T | CA363631566 | SYNGAP1,SYNGAP1-AS1 | c.2891G>T (p.Gly964Val) c.3149G>T (p.Gly1050Val) c.3107G>T (p.Gly1036Val) c.2972G>T (p.Gly991Val) c.3104G>T (p.Gly1035Val) n.329+2905C>A | |
6 | g.33443702A>C | CA450104283 | SYNGAP1,SYNGAP1-AS1 | c.2892A>C (p.Gly964=) c.3150A>C (p.Gly1050=) c.3108A>C (p.Gly1036=) c.2973A>C (p.Gly991=) c.3105A>C (p.Gly1035=) n.329+2904T>G | |
6 | g.33443702A>G | CA450104284 | SYNGAP1,SYNGAP1-AS1 | c.2892A>G (p.Gly964=) c.3150A>G (p.Gly1050=) c.3108A>G (p.Gly1036=) c.2973A>G (p.Gly991=) c.3105A>G (p.Gly1035=) n.329+2904T>C | |
6 | g.33443702A>T | CA450104285 | SYNGAP1,SYNGAP1-AS1 | c.2892A>T (p.Gly964=) c.3150A>T (p.Gly1050=) c.3108A>T (p.Gly1036=) c.2973A>T (p.Gly991=) c.3105A>T (p.Gly1035=) n.329+2904T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443702_33443723delinsAGGTGGGAGCGGTGGGGGCAGC | CA1620014743 | SYNGAP1,SYNGAP1-AS1 | c.2892_2913delinsAGGTGGGAGCGGTGGGGGCAGC (p.Gly964=) c.3150_3171delinsAGGTGGGAGCGGTGGGGGCAGC (p.Gly1050=) c.3108_3129delinsAGGTGGGAGCGGTGGGGGCAGC (p.Gly1036=) c.2973_2994delinsAGGTGGGAGCGGTGGGGGCAGC (p.Gly991=) c.3105_3126delinsAGGTGGGAGCGGTGGGGGCAGC (p.Gly1035=) n.329+2883_329+2904delinsGCTGCCCCCACCGCTCCCACCT | |
6 | g.33443703G>A | CA363631575 | SYNGAP1,SYNGAP1-AS1 | c.2893G>A (p.Gly965Ser) c.3151G>A (p.Gly1051Ser) c.3109G>A (p.Gly1037Ser) c.2974G>A (p.Gly992Ser) c.3106G>A (p.Gly1036Ser) n.329+2903C>T | |
6 | g.33443703G>C | CA363631584 | SYNGAP1,SYNGAP1-AS1 | c.2893G>C (p.Gly965Arg) c.3151G>C (p.Gly1051Arg) c.3109G>C (p.Gly1037Arg) c.2974G>C (p.Gly992Arg) c.3106G>C (p.Gly1036Arg) n.329+2903C>G | |
6 | g.33443703G= | CA1620014744 | SYNGAP1,SYNGAP1-AS1 | c.2893G= (p.Gly965=) c.3151G= (p.Gly1051=) c.3109G= (p.Gly1037=) c.2974G= (p.Gly992=) c.3106G= (p.Gly1036=) n.329+2903C= | |
6 | g.33443703G>T | CA363631571 | SYNGAP1,SYNGAP1-AS1 | c.2893G>T (p.Gly965Cys) c.3151G>T (p.Gly1051Cys) c.3109G>T (p.Gly1037Cys) c.2974G>T (p.Gly992Cys) c.3106G>T (p.Gly1036Cys) n.329+2903C>A | ClinVar dbSNP |
6 | g.33443709_33443729del | CA824041091 | SYNGAP1,SYNGAP1-AS1 | c.2899_2919del (p.Ser967_Gly973del) c.3157_3177del (p.Ser1053_Gly1059del) c.3115_3135del (p.Ser1039_Gly1045del) c.2980_3000del (p.Ser994_Gly1000del) c.3112_3132del (p.Ser1038_Gly1044del) n.329+2883_329+2903del | dbSNP |
6 | g.33443704G>A | CA363631587 | SYNGAP1,SYNGAP1-AS1 | c.2894G>A (p.Gly965Asp) c.3152G>A (p.Gly1051Asp) c.3110G>A (p.Gly1037Asp) c.2975G>A (p.Gly992Asp) c.3107G>A (p.Gly1036Asp) n.329+2902C>T | gnomAD v4 |
6 | g.33443704G>C | CA363631590 | SYNGAP1,SYNGAP1-AS1 | c.2894G>C (p.Gly965Ala) c.3152G>C (p.Gly1051Ala) c.3110G>C (p.Gly1037Ala) c.2975G>C (p.Gly992Ala) c.3107G>C (p.Gly1036Ala) n.329+2902C>G | |
6 | g.33443704G>T | CA363631594 | SYNGAP1,SYNGAP1-AS1 | c.2894G>T (p.Gly965Val) c.3152G>T (p.Gly1051Val) c.3110G>T (p.Gly1037Val) c.2975G>T (p.Gly992Val) c.3107G>T (p.Gly1036Val) n.329+2902C>A | gnomAD v4 |
6 | g.33443705T>A | CA450104286 | SYNGAP1,SYNGAP1-AS1 | c.2895T>A (p.Gly965=) c.3153T>A (p.Gly1051=) c.3111T>A (p.Gly1037=) c.2976T>A (p.Gly992=) c.3108T>A (p.Gly1036=) n.329+2901A>T | |
6 | g.33443705T>C | CA450104287 | SYNGAP1,SYNGAP1-AS1 | c.2895T>C (p.Gly965=) c.3153T>C (p.Gly1051=) c.3111T>C (p.Gly1037=) c.2976T>C (p.Gly992=) c.3108T>C (p.Gly1036=) n.329+2901A>G | |
6 | g.33443705T>G | CA450104288 | SYNGAP1,SYNGAP1-AS1 | c.2895T>G (p.Gly965=) c.3153T>G (p.Gly1051=) c.3111T>G (p.Gly1037=) c.2976T>G (p.Gly992=) c.3108T>G (p.Gly1036=) n.329+2901A>C | |
6 | g.33443705_33443717delinsTGGGAGCGGTGGG | CA1620014745 | SYNGAP1,SYNGAP1-AS1 | c.2895_2907delinsTGGGAGCGGTGGG (p.Gly965=) c.3153_3165delinsTGGGAGCGGTGGG (p.Gly1051=) c.3111_3123delinsTGGGAGCGGTGGG (p.Gly1037=) c.2976_2988delinsTGGGAGCGGTGGG (p.Gly992=) c.3108_3120delinsTGGGAGCGGTGGG (p.Gly1036=) n.329+2889_329+2901delinsCCCACCGCTCCCA | |
6 | g.33443706G>A | CA363631596 | SYNGAP1,SYNGAP1-AS1 | c.2896G>A (p.Gly966Arg) c.3154G>A (p.Gly1052Arg) c.3112G>A (p.Gly1038Arg) c.2977G>A (p.Gly993Arg) c.3109G>A (p.Gly1037Arg) n.329+2900C>T | ClinVar |
6 | g.33443706G>C | CA363631598 | SYNGAP1,SYNGAP1-AS1 | c.2896G>C (p.Gly966Arg) c.3154G>C (p.Gly1052Arg) c.3112G>C (p.Gly1038Arg) c.2977G>C (p.Gly993Arg) c.3109G>C (p.Gly1037Arg) n.329+2900C>G | |
6 | g.33443706G>T | CA363631600 | SYNGAP1,SYNGAP1-AS1 | c.2896G>T (p.Gly966Trp) c.3154G>T (p.Gly1052Trp) c.3112G>T (p.Gly1038Trp) c.2977G>T (p.Gly993Trp) c.3109G>T (p.Gly1037Trp) n.329+2900C>A | |
6 | g.33443708_33443719dup | CA2573140295 | SYNGAP1,SYNGAP1-AS1 | c.2898_2909dup (p.Gly970_Ser971insSerGlyGlyGly) c.3156_3167dup (p.Gly1056_Ser1057insSerGlyGlyGly) c.3114_3125dup (p.Gly1042_Ser1043insSerGlyGlyGly) c.2979_2990dup (p.Gly997_Ser998insSerGlyGlyGly) c.3111_3122dup (p.Gly1041_Ser1042insSerGlyGlyGly) n.329+2889_329+2900dup | ClinVar dbSNP gnomAD v4 |
6 | g.33443708_33443719del | CA566700715 | SYNGAP1,SYNGAP1-AS1 | c.2898_2909del (p.Ser967_Gly970del) c.3156_3167del (p.Ser1053_Gly1056del) c.3114_3125del (p.Ser1039_Gly1042del) c.2979_2990del (p.Ser994_Gly997del) c.3111_3122del (p.Ser1038_Gly1041del) n.329+2889_329+2900del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443707G>A | CA363631604 | SYNGAP1,SYNGAP1-AS1 | c.2897G>A (p.Gly966Glu) c.3155G>A (p.Gly1052Glu) c.3113G>A (p.Gly1038Glu) c.2978G>A (p.Gly993Glu) c.3110G>A (p.Gly1037Glu) n.329+2899C>T | |
6 | g.33443707G>C | CA363631620 | SYNGAP1,SYNGAP1-AS1 | c.2897G>C (p.Gly966Ala) c.3155G>C (p.Gly1052Ala) c.3113G>C (p.Gly1038Ala) c.2978G>C (p.Gly993Ala) c.3110G>C (p.Gly1037Ala) n.329+2899C>G | |
6 | g.33443707G>T | CA363631612 | SYNGAP1,SYNGAP1-AS1 | c.2897G>T (p.Gly966Val) c.3155G>T (p.Gly1052Val) c.3113G>T (p.Gly1038Val) c.2978G>T (p.Gly993Val) c.3110G>T (p.Gly1037Val) n.329+2899C>A | |
6 | g.33443708G>A | CA3758989 | SYNGAP1,SYNGAP1-AS1 | c.2898G>A (p.Gly966=) c.3156G>A (p.Gly1052=) c.3114G>A (p.Gly1038=) c.2979G>A (p.Gly993=) c.3111G>A (p.Gly1037=) n.329+2898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443708G>C | CA450104289 | SYNGAP1,SYNGAP1-AS1 | c.2898G>C (p.Gly966=) c.3156G>C (p.Gly1052=) c.3114G>C (p.Gly1038=) c.2979G>C (p.Gly993=) c.3111G>C (p.Gly1037=) n.329+2898C>G | |
6 | g.33443708G= | CA1620014746 | SYNGAP1,SYNGAP1-AS1 | c.2898G= (p.Gly966=) c.3156G= (p.Gly1052=) c.3114G= (p.Gly1038=) c.2979G= (p.Gly993=) c.3111G= (p.Gly1037=) n.329+2898C= | |
6 | g.33443708G>T | CA450104290 | SYNGAP1,SYNGAP1-AS1 | c.2898G>T (p.Gly966=) c.3156G>T (p.Gly1052=) c.3114G>T (p.Gly1038=) c.2979G>T (p.Gly993=) c.3111G>T (p.Gly1037=) n.329+2898C>A | |
6 | g.33443708_33443720delinsGAGCGGTGGGGGC | CA1620014747 | SYNGAP1,SYNGAP1-AS1 | c.2898_2910delinsGAGCGGTGGGGGC (p.Gly966=) c.3156_3168delinsGAGCGGTGGGGGC (p.Gly1052=) c.3114_3126delinsGAGCGGTGGGGGC (p.Gly1038=) c.2979_2991delinsGAGCGGTGGGGGC (p.Gly993=) c.3111_3123delinsGAGCGGTGGGGGC (p.Gly1037=) n.329+2886_329+2898delinsGCCCCCACCGCTC | |
6 | g.33443709A= | CA1620014749 | SYNGAP1,SYNGAP1-AS1 | c.2899A= (p.Ser967=) c.3157A= (p.Ser1053=) c.3115A= (p.Ser1039=) c.2980A= (p.Ser994=) c.3112A= (p.Ser1038=) n.329+2897T= | |
6 | g.33443709A>C | CA363631632 | SYNGAP1,SYNGAP1-AS1 | c.2899A>C (p.Ser967Arg) c.3157A>C (p.Ser1053Arg) c.3115A>C (p.Ser1039Arg) c.2980A>C (p.Ser994Arg) c.3112A>C (p.Ser1038Arg) n.329+2897T>G | |
6 | g.33443709A>G | CA363631635 | SYNGAP1,SYNGAP1-AS1 | c.2899A>G (p.Ser967Gly) c.3157A>G (p.Ser1053Gly) c.3115A>G (p.Ser1039Gly) c.2980A>G (p.Ser994Gly) c.3112A>G (p.Ser1038Gly) n.329+2897T>C | |
6 | g.33443709A>T | CA363631648 | SYNGAP1,SYNGAP1-AS1 | c.2899A>T (p.Ser967Cys) c.3157A>T (p.Ser1053Cys) c.3115A>T (p.Ser1039Cys) c.2980A>T (p.Ser994Cys) c.3112A>T (p.Ser1038Cys) n.329+2897T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443720_33443731dup | CA1620014748 | SYNGAP1,SYNGAP1-AS1 | c.2910_2921dup (p.Gly974_Gly975insSerGlyGlyGly) c.3168_3179dup (p.Gly1060_Gly1061insSerGlyGlyGly) c.3126_3137dup (p.Gly1046_Gly1047insSerGlyGlyGly) c.2991_3002dup (p.Gly1001_Gly1002insSerGlyGlyGly) c.3123_3134dup (p.Gly1045_Gly1046insSerGlyGlyGly) n.329+2886_329+2897dup | dbSNP gnomAD v4 |
6 | g.33443720_33443731del | CA3758988 | SYNGAP1,SYNGAP1-AS1 | c.2910_2921del (p.Ser971_Gly974del) c.3168_3179del (p.Ser1057_Gly1060del) c.3126_3137del (p.Ser1043_Gly1046del) c.2991_3002del (p.Ser998_Gly1001del) c.3123_3134del (p.Ser1042_Gly1045del) n.329+2886_329+2897del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443710G>A | CA363631665 | SYNGAP1,SYNGAP1-AS1 | c.2900G>A (p.Ser967Asn) c.3158G>A (p.Ser1053Asn) c.3116G>A (p.Ser1039Asn) c.2981G>A (p.Ser994Asn) c.3113G>A (p.Ser1038Asn) n.329+2896C>T | gnomAD v4 |
6 | g.33443710G>C | CA363631669 | SYNGAP1,SYNGAP1-AS1 | c.2900G>C (p.Ser967Thr) c.3158G>C (p.Ser1053Thr) c.3116G>C (p.Ser1039Thr) c.2981G>C (p.Ser994Thr) c.3113G>C (p.Ser1038Thr) n.329+2896C>G | |
6 | g.33443710G= | CA1620014751 | SYNGAP1,SYNGAP1-AS1 | c.2900G= (p.Ser967=) c.3158G= (p.Ser1053=) c.3116G= (p.Ser1039=) c.2981G= (p.Ser994=) c.3113G= (p.Ser1038=) n.329+2896C= | |
6 | g.33443710G>T | CA363631657 | SYNGAP1,SYNGAP1-AS1 | c.2900G>T (p.Ser967Ile) c.3158G>T (p.Ser1053Ile) c.3116G>T (p.Ser1039Ile) c.2981G>T (p.Ser994Ile) c.3113G>T (p.Ser1038Ile) n.329+2896C>A | dbSNP |
6 | g.33443711_33443713dup | CA1620014750 | SYNGAP1,SYNGAP1-AS1 | c.2901_2903dup (p.Gly968_Gly969insGly) c.3159_3161dup (p.Gly1054_Gly1055insGly) c.3117_3119dup (p.Gly1040_Gly1041insGly) c.2982_2984dup (p.Gly995_Gly996insGly) c.3114_3116dup (p.Gly1039_Gly1040insGly) n.329+2894_329+2896dup | dbSNP |
6 | g.33443711C>A | CA363631685 | SYNGAP1,SYNGAP1-AS1 | c.2901C>A (p.Ser967Arg) c.3159C>A (p.Ser1053Arg) c.3117C>A (p.Ser1039Arg) c.2982C>A (p.Ser994Arg) c.3114C>A (p.Ser1038Arg) n.329+2895G>T | gnomAD v4 |
6 | g.33443711C= | CA1620014752 | SYNGAP1,SYNGAP1-AS1 | c.2901C= (p.Ser967=) c.3159C= (p.Ser1053=) c.3117C= (p.Ser1039=) c.2982C= (p.Ser994=) c.3114C= (p.Ser1038=) n.329+2895G= | |
6 | g.33443711C>G | CA363631680 | SYNGAP1,SYNGAP1-AS1 | c.2901C>G (p.Ser967Arg) c.3159C>G (p.Ser1053Arg) c.3117C>G (p.Ser1039Arg) c.2982C>G (p.Ser994Arg) c.3114C>G (p.Ser1038Arg) n.329+2895G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443711C>T | CA450104291 | SYNGAP1,SYNGAP1-AS1 | c.2901C>T (p.Ser967=) c.3159C>T (p.Ser1053=) c.3117C>T (p.Ser1039=) c.2982C>T (p.Ser994=) c.3114C>T (p.Ser1038=) n.329+2895G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443712G>A | CA3758990 | SYNGAP1,SYNGAP1-AS1 | c.2902G>A (p.Gly968Ser) c.3160G>A (p.Gly1054Ser) c.3118G>A (p.Gly1040Ser) c.2983G>A (p.Gly995Ser) c.3115G>A (p.Gly1039Ser) n.329+2894C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443712G>C | CA363631690 | SYNGAP1,SYNGAP1-AS1 | c.2902G>C (p.Gly968Arg) c.3160G>C (p.Gly1054Arg) c.3118G>C (p.Gly1040Arg) c.2983G>C (p.Gly995Arg) c.3115G>C (p.Gly1039Arg) n.329+2894C>G | |
6 | g.33443712G= | CA1620014753 | SYNGAP1,SYNGAP1-AS1 | c.2902G= (p.Gly968=) c.3160G= (p.Gly1054=) c.3118G= (p.Gly1040=) c.2983G= (p.Gly995=) c.3115G= (p.Gly1039=) n.329+2894C= | |
6 | g.33443712G>T | CA137073412 | SYNGAP1,SYNGAP1-AS1 | c.2902G>T (p.Gly968Cys) c.3160G>T (p.Gly1054Cys) c.3118G>T (p.Gly1040Cys) c.2983G>T (p.Gly995Cys) c.3115G>T (p.Gly1039Cys) n.329+2894C>A | dbSNP |
6 | g.33443714_33443716dup | CA2524139639 | SYNGAP1,SYNGAP1-AS1 | c.2904_2906dup (p.Gly969_Gly970insGly) c.3162_3164dup (p.Gly1055_Gly1056insGly) c.3120_3122dup (p.Gly1041_Gly1042insGly) c.2985_2987dup (p.Gly996_Gly997insGly) c.3117_3119dup (p.Gly1040_Gly1041insGly) n.329+2892_329+2894dup | |
6 | g.33443713G>A | CA363631698 | SYNGAP1,SYNGAP1-AS1 | c.2903G>A (p.Gly968Asp) c.3161G>A (p.Gly1054Asp) c.3119G>A (p.Gly1040Asp) c.2984G>A (p.Gly995Asp) c.3116G>A (p.Gly1039Asp) n.329+2893C>T | ClinVar dbSNP |
6 | g.33443713G>C | CA363631702 | SYNGAP1,SYNGAP1-AS1 | c.2903G>C (p.Gly968Ala) c.3161G>C (p.Gly1054Ala) c.3119G>C (p.Gly1040Ala) c.2984G>C (p.Gly995Ala) c.3116G>C (p.Gly1039Ala) n.329+2893C>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.33443713G= | CA1620014754 | SYNGAP1,SYNGAP1-AS1 | c.2903G= (p.Gly968=) c.3161G= (p.Gly1054=) c.3119G= (p.Gly1040=) c.2984G= (p.Gly995=) c.3116G= (p.Gly1039=) n.329+2893C= | |
6 | g.33443713G>T | CA363631704 | SYNGAP1,SYNGAP1-AS1 | c.2903G>T (p.Gly968Val) c.3161G>T (p.Gly1054Val) c.3119G>T (p.Gly1040Val) c.2984G>T (p.Gly995Val) c.3116G>T (p.Gly1039Val) n.329+2893C>A | |
6 | g.33443714del | CA2678276751 | SYNGAP1,SYNGAP1-AS1 | c.2904del (p.Gly970AlafsTer21) c.3162del (p.Gly1056AlafsTer21) c.3120del (p.Gly1042AlafsTer21) c.2985del (p.Gly997AlafsTer21) c.3117del (p.Gly1041AlafsTer21) n.329+2892del | gnomAD v4 |
6 | g.33443714T>A | CA450104292 | SYNGAP1,SYNGAP1-AS1 | c.2904T>A (p.Gly968=) c.3162T>A (p.Gly1054=) c.3120T>A (p.Gly1040=) c.2985T>A (p.Gly995=) c.3117T>A (p.Gly1039=) n.329+2892A>T | |
6 | g.33443714T>C | CA450104293 | SYNGAP1,SYNGAP1-AS1 | c.2904T>C (p.Gly968=) c.3162T>C (p.Gly1054=) c.3120T>C (p.Gly1040=) c.2985T>C (p.Gly995=) c.3117T>C (p.Gly1039=) n.329+2892A>G | |
6 | g.33443714T>G | CA450104294 | SYNGAP1,SYNGAP1-AS1 | c.2904T>G (p.Gly968=) c.3162T>G (p.Gly1054=) c.3120T>G (p.Gly1040=) c.2985T>G (p.Gly995=) c.3117T>G (p.Gly1039=) n.329+2892A>C | dbSNP gnomAD v4 |
6 | g.33443714T= | CA1620014755 | SYNGAP1,SYNGAP1-AS1 | c.2904T= (p.Gly968=) c.3162T= (p.Gly1054=) c.3120T= (p.Gly1040=) c.2985T= (p.Gly995=) c.3117T= (p.Gly1039=) n.329+2892A= | |
6 | g.33443715G>A | CA363631710 | SYNGAP1,SYNGAP1-AS1 | c.2905G>A (p.Gly969Arg) c.3163G>A (p.Gly1055Arg) c.3121G>A (p.Gly1041Arg) c.2986G>A (p.Gly996Arg) c.3118G>A (p.Gly1040Arg) n.329+2891C>T | |
6 | g.33443715G>C | CA363631709 | SYNGAP1,SYNGAP1-AS1 | c.2905G>C (p.Gly969Arg) c.3163G>C (p.Gly1055Arg) c.3121G>C (p.Gly1041Arg) c.2986G>C (p.Gly996Arg) c.3118G>C (p.Gly1040Arg) n.329+2891C>G | dbSNP |
6 | g.33443715G>T | CA363631707 | SYNGAP1,SYNGAP1-AS1 | c.2905G>T (p.Gly969Trp) c.3163G>T (p.Gly1055Trp) c.3121G>T (p.Gly1041Trp) c.2986G>T (p.Gly996Trp) c.3118G>T (p.Gly1040Trp) n.329+2891C>A | |
6 | g.33443719dup | CA2838032719 | SYNGAP1,SYNGAP1-AS1 | c.2909dup (p.Ser971GlnfsTer?) c.3167dup (p.Ser1057GlnfsTer?) c.3125dup (p.Ser1043GlnfsTer?) c.2990dup (p.Ser998GlnfsTer?) c.3122dup (p.Ser1042GlnfsTer?) n.329+2891dup | |
6 | g.33443719_33443740dup | CA915944221 | SYNGAP1,SYNGAP1-AS1 | c.2909_2930dup (p.Pro979ArgfsTer?) c.3167_3188dup (p.Pro1065ArgfsTer?) c.3125_3146dup (p.Pro1051ArgfsTer?) c.2990_3011dup (p.Pro1006ArgfsTer?) c.3122_3143dup (p.Pro1050ArgfsTer?) n.329+2870_329+2891dup | ClinVar dbSNP |
6 | g.33443716G>A | CA363631714 | SYNGAP1,SYNGAP1-AS1 | c.2906G>A (p.Gly969Glu) c.3164G>A (p.Gly1055Glu) c.3122G>A (p.Gly1041Glu) c.2987G>A (p.Gly996Glu) c.3119G>A (p.Gly1040Glu) n.329+2890C>T | gnomAD v4 |
6 | g.33443716G>C | CA363631726 | SYNGAP1,SYNGAP1-AS1 | c.2906G>C (p.Gly969Ala) c.3164G>C (p.Gly1055Ala) c.3122G>C (p.Gly1041Ala) c.2987G>C (p.Gly996Ala) c.3119G>C (p.Gly1040Ala) n.329+2890C>G | |
6 | g.33443716G>T | CA363631734 | SYNGAP1,SYNGAP1-AS1 | c.2906G>T (p.Gly969Val) c.3164G>T (p.Gly1055Val) c.3122G>T (p.Gly1041Val) c.2987G>T (p.Gly996Val) c.3119G>T (p.Gly1040Val) n.329+2890C>A | |
6 | g.33443717G>A | CA450104295 | SYNGAP1,SYNGAP1-AS1 | c.2907G>A (p.Gly969=) c.3165G>A (p.Gly1055=) c.3123G>A (p.Gly1041=) c.2988G>A (p.Gly996=) c.3120G>A (p.Gly1040=) n.329+2889C>T | |
6 | g.33443717G>C | CA450104296 | SYNGAP1,SYNGAP1-AS1 | c.2907G>C (p.Gly969=) c.3165G>C (p.Gly1055=) c.3123G>C (p.Gly1041=) c.2988G>C (p.Gly996=) c.3120G>C (p.Gly1040=) n.329+2889C>G | dbSNP |
6 | g.33443717G>T | CA450104297 | SYNGAP1,SYNGAP1-AS1 | c.2907G>T (p.Gly969=) c.3165G>T (p.Gly1055=) c.3123G>T (p.Gly1041=) c.2988G>T (p.Gly996=) c.3120G>T (p.Gly1040=) n.329+2889C>A | |
6 | g.33443718G>A | CA363631737 | SYNGAP1,SYNGAP1-AS1 | c.2908G>A (p.Gly970Ser) c.3166G>A (p.Gly1056Ser) c.3124G>A (p.Gly1042Ser) c.2989G>A (p.Gly997Ser) c.3121G>A (p.Gly1041Ser) n.329+2888C>T | |
6 | g.33443718G>C | CA363631739 | SYNGAP1,SYNGAP1-AS1 | c.2908G>C (p.Gly970Arg) c.3166G>C (p.Gly1056Arg) c.3124G>C (p.Gly1042Arg) c.2989G>C (p.Gly997Arg) c.3121G>C (p.Gly1041Arg) n.329+2888C>G | |
6 | g.33443718G>T | CA363631743 | SYNGAP1,SYNGAP1-AS1 | c.2908G>T (p.Gly970Cys) c.3166G>T (p.Gly1056Cys) c.3124G>T (p.Gly1042Cys) c.2989G>T (p.Gly997Cys) c.3121G>T (p.Gly1041Cys) n.329+2888C>A | |
6 | g.33443720_33443725dup | CA2678276756 | SYNGAP1,SYNGAP1-AS1 | c.2910_2915dup (p.Gly972_Gly973insSerGly) c.3168_3173dup (p.Gly1058_Gly1059insSerGly) c.3126_3131dup (p.Gly1044_Gly1045insSerGly) c.2991_2996dup (p.Gly999_Gly1000insSerGly) c.3123_3128dup (p.Gly1043_Gly1044insSerGly) n.329+2883_329+2888dup | gnomAD v4 |
6 | g.33443719G>A | CA363631746 | SYNGAP1,SYNGAP1-AS1 | c.2909G>A (p.Gly970Asp) c.3167G>A (p.Gly1056Asp) c.3125G>A (p.Gly1042Asp) c.2990G>A (p.Gly997Asp) c.3122G>A (p.Gly1041Asp) n.329+2887C>T | |
6 | g.33443719G>C | CA363631752 | SYNGAP1,SYNGAP1-AS1 | c.2909G>C (p.Gly970Ala) c.3167G>C (p.Gly1056Ala) c.3125G>C (p.Gly1042Ala) c.2990G>C (p.Gly997Ala) c.3122G>C (p.Gly1041Ala) n.329+2887C>G | dbSNP |
6 | g.33443719G>T | CA363631750 | SYNGAP1,SYNGAP1-AS1 | c.2909G>T (p.Gly970Val) c.3167G>T (p.Gly1056Val) c.3125G>T (p.Gly1042Val) c.2990G>T (p.Gly997Val) c.3122G>T (p.Gly1041Val) n.329+2887C>A | |
6 | g.33443720C>A | CA450104298 | SYNGAP1,SYNGAP1-AS1 | c.2910C>A (p.Gly970=) c.3168C>A (p.Gly1056=) c.3126C>A (p.Gly1042=) c.2991C>A (p.Gly997=) c.3123C>A (p.Gly1041=) n.329+2886G>T | ClinVar gnomAD v4 |
6 | g.33443720C= | CA1620014756 | SYNGAP1,SYNGAP1-AS1 | c.2910C= (p.Gly970=) c.3168C= (p.Gly1056=) c.3126C= (p.Gly1042=) c.2991C= (p.Gly997=) c.3123C= (p.Gly1041=) n.329+2886G= | |
6 | g.33443720C>G | CA450104299 | SYNGAP1,SYNGAP1-AS1 | c.2910C>G (p.Gly970=) c.3168C>G (p.Gly1056=) c.3126C>G (p.Gly1042=) c.2991C>G (p.Gly997=) c.3123C>G (p.Gly1041=) n.329+2886G>C | |
6 | g.33443720C>T | CA137073418 | SYNGAP1,SYNGAP1-AS1 | c.2910C>T (p.Gly970=) c.3168C>T (p.Gly1056=) c.3126C>T (p.Gly1042=) c.2991C>T (p.Gly997=) c.3123C>T (p.Gly1041=) n.329+2886G>A | dbSNP |
6 | g.33443721A= | CA1620014757 | SYNGAP1,SYNGAP1-AS1 | c.2911A= (p.Ser971=) c.3169A= (p.Ser1057=) c.3127A= (p.Ser1043=) c.2992A= (p.Ser998=) c.3124A= (p.Ser1042=) n.329+2885T= | |
6 | g.33443721A>C | CA363631761 | SYNGAP1,SYNGAP1-AS1 | c.2911A>C (p.Ser971Arg) c.3169A>C (p.Ser1057Arg) c.3127A>C (p.Ser1043Arg) c.2992A>C (p.Ser998Arg) c.3124A>C (p.Ser1042Arg) n.329+2885T>G | gnomAD v4 |
6 | g.33443721A>G | CA137073424 | SYNGAP1,SYNGAP1-AS1 | c.2911A>G (p.Ser971Gly) c.3169A>G (p.Ser1057Gly) c.3127A>G (p.Ser1043Gly) c.2992A>G (p.Ser998Gly) c.3124A>G (p.Ser1042Gly) n.329+2885T>C | dbSNP gnomAD v4 |
6 | g.33443721A>T | CA363631764 | SYNGAP1,SYNGAP1-AS1 | c.2911A>T (p.Ser971Cys) c.3169A>T (p.Ser1057Cys) c.3127A>T (p.Ser1043Cys) c.2992A>T (p.Ser998Cys) c.3124A>T (p.Ser1042Cys) n.329+2885T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443721_33443732dup | CA2547328151 | SYNGAP1,SYNGAP1-AS1 | c.2911_2922dup (p.Gly974_Gly975insSerGlyGlyGly) c.3169_3180dup (p.Gly1060_Gly1061insSerGlyGlyGly) c.3127_3138dup (p.Gly1046_Gly1047insSerGlyGlyGly) c.2992_3003dup (p.Gly1001_Gly1002insSerGlyGlyGly) c.3124_3135dup (p.Gly1045_Gly1046insSerGlyGlyGly) n.329+2874_329+2885dup | |
6 | g.33443722G>A | CA363631765 | SYNGAP1,SYNGAP1-AS1 | c.2912G>A (p.Ser971Asn) c.3170G>A (p.Ser1057Asn) c.3128G>A (p.Ser1043Asn) c.2993G>A (p.Ser998Asn) c.3125G>A (p.Ser1042Asn) n.329+2884C>T | |
6 | g.33443722G>C | CA363631766 | SYNGAP1,SYNGAP1-AS1 | c.2912G>C (p.Ser971Thr) c.3170G>C (p.Ser1057Thr) c.3128G>C (p.Ser1043Thr) c.2993G>C (p.Ser998Thr) c.3125G>C (p.Ser1042Thr) n.329+2884C>G | dbSNP |
6 | g.33443722G>T | CA363631769 | SYNGAP1,SYNGAP1-AS1 | c.2912G>T (p.Ser971Ile) c.3170G>T (p.Ser1057Ile) c.3128G>T (p.Ser1043Ile) c.2993G>T (p.Ser998Ile) c.3125G>T (p.Ser1042Ile) n.329+2884C>A | |
6 | g.33443726_33443737del | CA2678276761 | SYNGAP1,SYNGAP1-AS1 | c.2916_2927del (p.Gly973_Gly976del) c.3174_3185del (p.Gly1059_Gly1062del) c.3132_3143del (p.Gly1045_Gly1048del) c.2997_3008del (p.Gly1000_Gly1003del) c.3129_3140del (p.Gly1044_Gly1047del) n.329+2873_329+2884del | gnomAD v4 |
6 | g.33443723C>A | CA363631771 | SYNGAP1,SYNGAP1-AS1 | c.2913C>A (p.Ser971Arg) c.3171C>A (p.Ser1057Arg) c.3129C>A (p.Ser1043Arg) c.2994C>A (p.Ser998Arg) c.3126C>A (p.Ser1042Arg) n.329+2883G>T | |
6 | g.33443723C= | CA1620014758 | SYNGAP1,SYNGAP1-AS1 | c.2913C= (p.Ser971=) c.3171C= (p.Ser1057=) c.3129C= (p.Ser1043=) c.2994C= (p.Ser998=) c.3126C= (p.Ser1042=) n.329+2883G= | |
6 | g.33443723C>G | CA363631774 | SYNGAP1,SYNGAP1-AS1 | c.2913C>G (p.Ser971Arg) c.3171C>G (p.Ser1057Arg) c.3129C>G (p.Ser1043Arg) c.2994C>G (p.Ser998Arg) c.3126C>G (p.Ser1042Arg) n.329+2883G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443723C>T | CA3758991 | SYNGAP1,SYNGAP1-AS1 | c.2913C>T (p.Ser971=) c.3171C>T (p.Ser1057=) c.3129C>T (p.Ser1043=) c.2994C>T (p.Ser998=) c.3126C>T (p.Ser1042=) n.329+2883G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443724G>A | CA3758992 | SYNGAP1,SYNGAP1-AS1 | c.2914G>A (p.Gly972Ser) c.3172G>A (p.Gly1058Ser) c.3130G>A (p.Gly1044Ser) c.2995G>A (p.Gly999Ser) c.3127G>A (p.Gly1043Ser) n.329+2882C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443724G>C | CA363631782 | SYNGAP1,SYNGAP1-AS1 | c.2914G>C (p.Gly972Arg) c.3172G>C (p.Gly1058Arg) c.3130G>C (p.Gly1044Arg) c.2995G>C (p.Gly999Arg) c.3127G>C (p.Gly1043Arg) n.329+2882C>G | |
6 | g.33443724G= | CA1620014759 | SYNGAP1,SYNGAP1-AS1 | c.2914G= (p.Gly972=) c.3172G= (p.Gly1058=) c.3130G= (p.Gly1044=) c.2995G= (p.Gly999=) c.3127G= (p.Gly1043=) n.329+2882C= | |
6 | g.33443724G>T | CA363631780 | SYNGAP1,SYNGAP1-AS1 | c.2914G>T (p.Gly972Cys) c.3172G>T (p.Gly1058Cys) c.3130G>T (p.Gly1044Cys) c.2995G>T (p.Gly999Cys) c.3127G>T (p.Gly1043Cys) n.329+2882C>A | gnomAD v4 |
6 | g.33443725_33443726insGGGGGGGGGGGGGG | CA2678276764 | SYNGAP1,SYNGAP1-AS1 | c.2915_2916insGGGGGGGGGGGGGG (p.Gly977ValfsTer19) c.3173_3174insGGGGGGGGGGGGGG (p.Gly1063ValfsTer19) c.3131_3132insGGGGGGGGGGGGGG (p.Gly1049ValfsTer19) c.2996_2997insGGGGGGGGGGGGGG (p.Gly1004ValfsTer19) c.3128_3129insGGGGGGGGGGGGGG (p.Gly1048ValfsTer19) n.329+2882_329+2883insCCCCCCCCCCCCCC | gnomAD v4 |
6 | g.33443725G>A | CA363631785 | SYNGAP1,SYNGAP1-AS1 | c.2915G>A (p.Gly972Asp) c.3173G>A (p.Gly1058Asp) c.3131G>A (p.Gly1044Asp) c.2996G>A (p.Gly999Asp) c.3128G>A (p.Gly1043Asp) n.329+2881C>T | gnomAD v4 |
6 | g.33443725G>C | CA363631787 | SYNGAP1,SYNGAP1-AS1 | c.2915G>C (p.Gly972Ala) c.3173G>C (p.Gly1058Ala) c.3131G>C (p.Gly1044Ala) c.2996G>C (p.Gly999Ala) c.3128G>C (p.Gly1043Ala) n.329+2881C>G | |
6 | g.33443725G>T | CA363631790 | SYNGAP1,SYNGAP1-AS1 | c.2915G>T (p.Gly972Val) c.3173G>T (p.Gly1058Val) c.3131G>T (p.Gly1044Val) c.2996G>T (p.Gly999Val) c.3128G>T (p.Gly1043Val) n.329+2881C>A | gnomAD v4 |
6 | g.33443726T>A | CA450104300 | SYNGAP1,SYNGAP1-AS1 | c.2916T>A (p.Gly972=) c.3174T>A (p.Gly1058=) c.3132T>A (p.Gly1044=) c.2997T>A (p.Gly999=) c.3129T>A (p.Gly1043=) n.329+2880A>T | |
6 | g.33443726T>C | CA450104301 | SYNGAP1,SYNGAP1-AS1 | c.2916T>C (p.Gly972=) c.3174T>C (p.Gly1058=) c.3132T>C (p.Gly1044=) c.2997T>C (p.Gly999=) c.3129T>C (p.Gly1043=) n.329+2880A>G | |
6 | g.33443726T>G | CA450104302 | SYNGAP1,SYNGAP1-AS1 | c.2916T>G (p.Gly972=) c.3174T>G (p.Gly1058=) c.3132T>G (p.Gly1044=) c.2997T>G (p.Gly999=) c.3129T>G (p.Gly1043=) n.329+2880A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443726T= | CA1620014760 | SYNGAP1,SYNGAP1-AS1 | c.2916T= (p.Gly972=) c.3174T= (p.Gly1058=) c.3132T= (p.Gly1044=) c.2997T= (p.Gly999=) c.3129T= (p.Gly1043=) n.329+2880A= | |
6 | g.33443726_33443727delinsTG | CA1620014761 | SYNGAP1,SYNGAP1-AS1 | c.2916_2917delinsTG (p.Gly972=) c.3174_3175delinsTG (p.Gly1058=) c.3132_3133delinsTG (p.Gly1044=) c.2997_2998delinsTG (p.Gly999=) c.3129_3130delinsTG (p.Gly1043=) n.329+2879_329+2880delinsCA | |
6 | g.33443727G>A | CA3758993 | SYNGAP1,SYNGAP1-AS1 | c.2917G>A (p.Gly973Arg) c.3175G>A (p.Gly1059Arg) c.3133G>A (p.Gly1045Arg) c.2998G>A (p.Gly1000Arg) c.3130G>A (p.Gly1044Arg) n.329+2879C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443727G>C | CA363631806 | SYNGAP1,SYNGAP1-AS1 | c.2917G>C (p.Gly973Arg) c.3175G>C (p.Gly1059Arg) c.3133G>C (p.Gly1045Arg) c.2998G>C (p.Gly1000Arg) c.3130G>C (p.Gly1044Arg) n.329+2879C>G | |
6 | g.33443727G= | CA1620014762 | SYNGAP1,SYNGAP1-AS1 | c.2917G= (p.Gly973=) c.3175G= (p.Gly1059=) c.3133G= (p.Gly1045=) c.2998G= (p.Gly1000=) c.3130G= (p.Gly1044=) n.329+2879C= | |
6 | g.33443727G>T | CA363631810 | SYNGAP1,SYNGAP1-AS1 | c.2917G>T (p.Gly973Trp) c.3175G>T (p.Gly1059Trp) c.3133G>T (p.Gly1045Trp) c.2998G>T (p.Gly1000Trp) c.3130G>T (p.Gly1044Trp) n.329+2879C>A | |
6 | g.33443731dup | CA1139659348 | SYNGAP1,SYNGAP1-AS1 | c.2921dup (p.Gly975TrpfsTer?) c.3179dup (p.Gly1061TrpfsTer?) c.3137dup (p.Gly1047TrpfsTer?) c.3002dup (p.Gly1002TrpfsTer?) c.3134dup (p.Gly1046TrpfsTer?) n.329+2879dup | ClinVar |
6 | g.33443731del | CA915944222 | SYNGAP1,SYNGAP1-AS1 | c.2921del (p.Gly974ValfsTer17) c.3179del (p.Gly1060ValfsTer17) c.3137del (p.Gly1046ValfsTer17) c.3002del (p.Gly1001ValfsTer17) c.3134del (p.Gly1045ValfsTer17) n.329+2879del | ClinVar dbSNP |
6 | g.33443728G>A | CA363631818 | SYNGAP1,SYNGAP1-AS1 | c.2918G>A (p.Gly973Glu) c.3176G>A (p.Gly1059Glu) c.3134G>A (p.Gly1045Glu) c.2999G>A (p.Gly1000Glu) c.3131G>A (p.Gly1044Glu) n.329+2878C>T | gnomAD v4 |
6 | g.33443728G>C | CA3758994 | SYNGAP1,SYNGAP1-AS1 | c.2918G>C (p.Gly973Ala) c.3176G>C (p.Gly1059Ala) c.3134G>C (p.Gly1045Ala) c.2999G>C (p.Gly1000Ala) c.3131G>C (p.Gly1044Ala) n.329+2878C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443728G= | CA1620014763 | SYNGAP1,SYNGAP1-AS1 | c.2918G= (p.Gly973=) c.3176G= (p.Gly1059=) c.3134G= (p.Gly1045=) c.2999G= (p.Gly1000=) c.3131G= (p.Gly1044=) n.329+2878C= | |
6 | g.33443728G>T | CA363631821 | SYNGAP1,SYNGAP1-AS1 | c.2918G>T (p.Gly973Val) c.3176G>T (p.Gly1059Val) c.3134G>T (p.Gly1045Val) c.2999G>T (p.Gly1000Val) c.3131G>T (p.Gly1044Val) n.329+2878C>A | |
6 | g.33443729G>A | CA450104303 | SYNGAP1,SYNGAP1-AS1 | c.2919G>A (p.Gly973=) c.3177G>A (p.Gly1059=) c.3135G>A (p.Gly1045=) c.3000G>A (p.Gly1000=) c.3132G>A (p.Gly1044=) n.329+2877C>T | gnomAD v4 |
6 | g.33443729G>C | CA450104304 | SYNGAP1,SYNGAP1-AS1 | c.2919G>C (p.Gly973=) c.3177G>C (p.Gly1059=) c.3135G>C (p.Gly1045=) c.3000G>C (p.Gly1000=) c.3132G>C (p.Gly1044=) n.329+2877C>G | |
6 | g.33443729G>T | CA450104305 | SYNGAP1,SYNGAP1-AS1 | c.2919G>T (p.Gly973=) c.3177G>T (p.Gly1059=) c.3135G>T (p.Gly1045=) c.3000G>T (p.Gly1000=) c.3132G>T (p.Gly1044=) n.329+2877C>A | |
6 | g.33443730G>A | CA3758995 | SYNGAP1,SYNGAP1-AS1 | c.2920G>A (p.Gly974Ser) c.3178G>A (p.Gly1060Ser) c.3136G>A (p.Gly1046Ser) c.3001G>A (p.Gly1001Ser) c.3133G>A (p.Gly1045Ser) n.329+2876C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33443730G>C | CA363631843 | SYNGAP1,SYNGAP1-AS1 | c.2920G>C (p.Gly974Arg) c.3178G>C (p.Gly1060Arg) c.3136G>C (p.Gly1046Arg) c.3001G>C (p.Gly1001Arg) c.3133G>C (p.Gly1045Arg) n.329+2876C>G | |
6 | g.33443730G= | CA1620014764 | SYNGAP1,SYNGAP1-AS1 | c.2920G= (p.Gly974=) c.3178G= (p.Gly1060=) c.3136G= (p.Gly1046=) c.3001G= (p.Gly1001=) c.3133G= (p.Gly1045=) n.329+2876C= | |
6 | g.33443730G>T | CA363631848 | SYNGAP1,SYNGAP1-AS1 | c.2920G>T (p.Gly974Cys) c.3178G>T (p.Gly1060Cys) c.3136G>T (p.Gly1046Cys) c.3001G>T (p.Gly1001Cys) c.3133G>T (p.Gly1045Cys) n.329+2876C>A | |
6 | g.33443731G>A | CA363631868 | SYNGAP1,SYNGAP1-AS1 | c.2921G>A (p.Gly974Asp) c.3179G>A (p.Gly1060Asp) c.3137G>A (p.Gly1046Asp) c.3002G>A (p.Gly1001Asp) c.3134G>A (p.Gly1045Asp) n.329+2875C>T | |
6 | g.33443731G>C | CA363631872 | SYNGAP1,SYNGAP1-AS1 | c.2921G>C (p.Gly974Ala) c.3179G>C (p.Gly1060Ala) c.3137G>C (p.Gly1046Ala) c.3002G>C (p.Gly1001Ala) c.3134G>C (p.Gly1045Ala) n.329+2875C>G | |
6 | g.33443731G= | CA1620014765 | SYNGAP1,SYNGAP1-AS1 | c.2921G= (p.Gly974=) c.3179G= (p.Gly1060=) c.3137G= (p.Gly1046=) c.3002G= (p.Gly1001=) c.3134G= (p.Gly1045=) n.329+2875C= | |
6 | g.33443731G>T | CA363631858 | SYNGAP1,SYNGAP1-AS1 | c.2921G>T (p.Gly974Val) c.3179G>T (p.Gly1060Val) c.3137G>T (p.Gly1046Val) c.3002G>T (p.Gly1001Val) c.3134G>T (p.Gly1045Val) n.329+2875C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443732T>A | CA450104306 | SYNGAP1,SYNGAP1-AS1 | c.2922T>A (p.Gly974=) c.3180T>A (p.Gly1060=) c.3138T>A (p.Gly1046=) c.3003T>A (p.Gly1001=) c.3135T>A (p.Gly1045=) n.329+2874A>T | |
6 | g.33443732T>C | CA450104308 | SYNGAP1,SYNGAP1-AS1 | c.2922T>C (p.Gly974=) c.3180T>C (p.Gly1060=) c.3138T>C (p.Gly1046=) c.3003T>C (p.Gly1001=) c.3135T>C (p.Gly1045=) n.329+2874A>G | |
6 | g.33443732T>G | CA450104307 | SYNGAP1,SYNGAP1-AS1 | c.2922T>G (p.Gly974=) c.3180T>G (p.Gly1060=) c.3138T>G (p.Gly1046=) c.3003T>G (p.Gly1001=) c.3135T>G (p.Gly1045=) n.329+2874A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443733G>A | CA363631878 | SYNGAP1,SYNGAP1-AS1 | c.2923G>A (p.Gly975Ser) c.3181G>A (p.Gly1061Ser) c.3139G>A (p.Gly1047Ser) c.3004G>A (p.Gly1002Ser) c.3136G>A (p.Gly1046Ser) n.329+2873C>T | |
6 | g.33443733G>C | CA363631881 | SYNGAP1,SYNGAP1-AS1 | c.2923G>C (p.Gly975Arg) c.3181G>C (p.Gly1061Arg) c.3139G>C (p.Gly1047Arg) c.3004G>C (p.Gly1002Arg) c.3136G>C (p.Gly1046Arg) n.329+2873C>G | |
6 | g.33443733G= | CA1620014766 | SYNGAP1,SYNGAP1-AS1 | c.2923G= (p.Gly975=) c.3181G= (p.Gly1061=) c.3139G= (p.Gly1047=) c.3004G= (p.Gly1002=) c.3136G= (p.Gly1046=) n.329+2873C= | |
6 | g.33443733G>T | CA3758996 | SYNGAP1,SYNGAP1-AS1 | c.2923G>T (p.Gly975Cys) c.3181G>T (p.Gly1061Cys) c.3139G>T (p.Gly1047Cys) c.3004G>T (p.Gly1002Cys) c.3136G>T (p.Gly1046Cys) n.329+2873C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443734G>A | CA363631886 | SYNGAP1,SYNGAP1-AS1 | c.2924G>A (p.Gly975Asp) c.3182G>A (p.Gly1061Asp) c.3140G>A (p.Gly1047Asp) c.3005G>A (p.Gly1002Asp) c.3137G>A (p.Gly1046Asp) n.329+2872C>T | |
6 | g.33443734G>C | CA363631890 | SYNGAP1,SYNGAP1-AS1 | c.2924G>C (p.Gly975Ala) c.3182G>C (p.Gly1061Ala) c.3140G>C (p.Gly1047Ala) c.3005G>C (p.Gly1002Ala) c.3137G>C (p.Gly1046Ala) n.329+2872C>G | |
6 | g.33443734G>T | CA363631893 | SYNGAP1,SYNGAP1-AS1 | c.2924G>T (p.Gly975Val) c.3182G>T (p.Gly1061Val) c.3140G>T (p.Gly1047Val) c.3005G>T (p.Gly1002Val) c.3137G>T (p.Gly1046Val) n.329+2872C>A | dbSNP |
6 | g.33443735C>A | CA450104309 | SYNGAP1,SYNGAP1-AS1 | c.2925C>A (p.Gly975=) c.3183C>A (p.Gly1061=) c.3141C>A (p.Gly1047=) c.3006C>A (p.Gly1002=) c.3138C>A (p.Gly1046=) n.329+2871G>T | |
6 | g.33443735C= | CA1620014767 | SYNGAP1,SYNGAP1-AS1 | c.2925C= (p.Gly975=) c.3183C= (p.Gly1061=) c.3141C= (p.Gly1047=) c.3006C= (p.Gly1002=) c.3138C= (p.Gly1046=) n.329+2871G= | |
6 | g.33443735C>G | CA450104310 | SYNGAP1,SYNGAP1-AS1 | c.2925C>G (p.Gly975=) c.3183C>G (p.Gly1061=) c.3141C>G (p.Gly1047=) c.3006C>G (p.Gly1002=) c.3138C>G (p.Gly1046=) n.329+2871G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443735C>T | CA3758997 | SYNGAP1,SYNGAP1-AS1 | c.2925C>T (p.Gly975=) c.3183C>T (p.Gly1061=) c.3141C>T (p.Gly1047=) c.3006C>T (p.Gly1002=) c.3138C>T (p.Gly1046=) n.329+2871G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443736G>A | CA363631913 | SYNGAP1,SYNGAP1-AS1 | c.2926G>A (p.Gly976Arg) c.3184G>A (p.Gly1062Arg) c.3142G>A (p.Gly1048Arg) c.3007G>A (p.Gly1003Arg) c.3139G>A (p.Gly1047Arg) n.329+2870C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443736G>C | CA363631918 | SYNGAP1,SYNGAP1-AS1 | c.2926G>C (p.Gly976Arg) c.3184G>C (p.Gly1062Arg) c.3142G>C (p.Gly1048Arg) c.3007G>C (p.Gly1003Arg) c.3139G>C (p.Gly1047Arg) n.329+2870C>G | |
6 | g.33443736G= | CA1620014768 | SYNGAP1,SYNGAP1-AS1 | c.2926G= (p.Gly976=) c.3184G= (p.Gly1062=) c.3142G= (p.Gly1048=) c.3007G= (p.Gly1003=) c.3139G= (p.Gly1047=) n.329+2870C= | |
6 | g.33443736G>T | CA363631920 | SYNGAP1,SYNGAP1-AS1 | c.2926G>T (p.Gly976Trp) c.3184G>T (p.Gly1062Trp) c.3142G>T (p.Gly1048Trp) c.3007G>T (p.Gly1003Trp) c.3139G>T (p.Gly1047Trp) n.329+2870C>A | |
6 | g.33443740_33443741insGGGGGGGGGGGGGGG | CA2678276798 | SYNGAP1,SYNGAP1-AS1 | c.2930_2931insGGGGGGGGGGGGGGG (p.Gly977_Gln978insGlyGlyGlyGlyGly) c.3188_3189insGGGGGGGGGGGGGGG (p.Gly1063_Gln1064insGlyGlyGlyGlyGly) c.3146_3147insGGGGGGGGGGGGGGG (p.Gly1049_Gln1050insGlyGlyGlyGlyGly) c.3011_3012insGGGGGGGGGGGGGGG (p.Gly1004_Gln1005insGlyGlyGlyGlyGly) c.3143_3144insGGGGGGGGGGGGGGG (p.Gly1048_Gln1049insGlyGlyGlyGlyGly) n.329+2870_329+2871insCCCCCCCCCCCCCCC | gnomAD v4 |
6 | g.33443740dup | CA2695206224 | SYNGAP1,SYNGAP1-AS1 | c.2930dup (p.Gln978ProfsTer?) c.3188dup (p.Gln1064ProfsTer?) c.3146dup (p.Gln1050ProfsTer?) c.3011dup (p.Gln1005ProfsTer?) c.3143dup (p.Gln1049ProfsTer?) n.329+2870dup | |
6 | g.33443738_33443740dup | CA2578585565 | SYNGAP1,SYNGAP1-AS1 | c.2928_2930dup (p.Gly977_Gln978insGly) c.3186_3188dup (p.Gly1063_Gln1064insGly) c.3144_3146dup (p.Gly1049_Gln1050insGly) c.3009_3011dup (p.Gly1004_Gln1005insGly) c.3141_3143dup (p.Gly1048_Gln1049insGly) n.329+2868_329+2870dup | |
6 | g.33443737G>A | CA363631921 | SYNGAP1,SYNGAP1-AS1 | c.2927G>A (p.Gly976Glu) c.3185G>A (p.Gly1062Glu) c.3143G>A (p.Gly1048Glu) c.3008G>A (p.Gly1003Glu) c.3140G>A (p.Gly1047Glu) n.329+2869C>T | |
6 | g.33443737G>C | CA363631923 | SYNGAP1,SYNGAP1-AS1 | c.2927G>C (p.Gly976Ala) c.3185G>C (p.Gly1062Ala) c.3143G>C (p.Gly1048Ala) c.3008G>C (p.Gly1003Ala) c.3140G>C (p.Gly1047Ala) n.329+2869C>G | |
6 | g.33443737G>T | CA363631927 | SYNGAP1,SYNGAP1-AS1 | c.2927G>T (p.Gly976Val) c.3185G>T (p.Gly1062Val) c.3143G>T (p.Gly1048Val) c.3008G>T (p.Gly1003Val) c.3140G>T (p.Gly1047Val) n.329+2869C>A | |
6 | g.33443738G>A | CA450104311 | SYNGAP1,SYNGAP1-AS1 | c.2928G>A (p.Gly976=) c.3186G>A (p.Gly1062=) c.3144G>A (p.Gly1048=) c.3009G>A (p.Gly1003=) c.3141G>A (p.Gly1047=) n.329+2868C>T | |
6 | g.33443738G>C | CA450104313 | SYNGAP1,SYNGAP1-AS1 | c.2928G>C (p.Gly976=) c.3186G>C (p.Gly1062=) c.3144G>C (p.Gly1048=) c.3009G>C (p.Gly1003=) c.3141G>C (p.Gly1047=) n.329+2868C>G | |
6 | g.33443738G>T | CA450104312 | SYNGAP1,SYNGAP1-AS1 | c.2928G>T (p.Gly976=) c.3186G>T (p.Gly1062=) c.3144G>T (p.Gly1048=) c.3009G>T (p.Gly1003=) c.3141G>T (p.Gly1047=) n.329+2868C>A | |
6 | g.33443739G>A | CA3758998 | SYNGAP1,SYNGAP1-AS1 | c.2929G>A (p.Gly977Ser) c.3187G>A (p.Gly1063Ser) c.3145G>A (p.Gly1049Ser) c.3010G>A (p.Gly1004Ser) c.3142G>A (p.Gly1048Ser) n.329+2867C>T | dbSNP ExAC gnomAD v2 |
6 | g.33443739G>C | CA363631937 | SYNGAP1,SYNGAP1-AS1 | c.2929G>C (p.Gly977Arg) c.3187G>C (p.Gly1063Arg) c.3145G>C (p.Gly1049Arg) c.3010G>C (p.Gly1004Arg) c.3142G>C (p.Gly1048Arg) n.329+2867C>G | |
6 | g.33443739G= | CA1620014769 | SYNGAP1,SYNGAP1-AS1 | c.2929G= (p.Gly977=) c.3187G= (p.Gly1063=) c.3145G= (p.Gly1049=) c.3010G= (p.Gly1004=) c.3142G= (p.Gly1048=) n.329+2867C= | |
6 | g.33443739G>T | CA363631933 | SYNGAP1,SYNGAP1-AS1 | c.2929G>T (p.Gly977Cys) c.3187G>T (p.Gly1063Cys) c.3145G>T (p.Gly1049Cys) c.3010G>T (p.Gly1004Cys) c.3142G>T (p.Gly1048Cys) n.329+2867C>A | |
6 | g.33443740G>A | CA363631944 | SYNGAP1,SYNGAP1-AS1 | c.2930G>A (p.Gly977Asp) c.3188G>A (p.Gly1063Asp) c.3146G>A (p.Gly1049Asp) c.3011G>A (p.Gly1004Asp) c.3143G>A (p.Gly1048Asp) n.329+2866C>T | |
6 | g.33443740G>C | CA363631948 | SYNGAP1,SYNGAP1-AS1 | c.2930G>C (p.Gly977Ala) c.3188G>C (p.Gly1063Ala) c.3146G>C (p.Gly1049Ala) c.3011G>C (p.Gly1004Ala) c.3143G>C (p.Gly1048Ala) n.329+2866C>G | |
6 | g.33443740G>T | CA363631946 | SYNGAP1,SYNGAP1-AS1 | c.2930G>T (p.Gly977Val) c.3188G>T (p.Gly1063Val) c.3146G>T (p.Gly1049Val) c.3011G>T (p.Gly1004Val) c.3143G>T (p.Gly1048Val) n.329+2866C>A | |
6 | g.33443741C>A | CA450104314 | SYNGAP1,SYNGAP1-AS1 | c.2931C>A (p.Gly977=) c.3189C>A (p.Gly1063=) c.3147C>A (p.Gly1049=) c.3012C>A (p.Gly1004=) c.3144C>A (p.Gly1048=) n.329+2865G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443741C= | CA1620014770 | SYNGAP1,SYNGAP1-AS1 | c.2931C= (p.Gly977=) c.3189C= (p.Gly1063=) c.3147C= (p.Gly1049=) c.3012C= (p.Gly1004=) c.3144C= (p.Gly1048=) n.329+2865G= | |
6 | g.33443741C>G | CA450104315 | SYNGAP1,SYNGAP1-AS1 | c.2931C>G (p.Gly977=) c.3189C>G (p.Gly1063=) c.3147C>G (p.Gly1049=) c.3012C>G (p.Gly1004=) c.3144C>G (p.Gly1048=) n.329+2865G>C | |
6 | g.33443741C>T | CA450104316 | SYNGAP1,SYNGAP1-AS1 | c.2931C>T (p.Gly977=) c.3189C>T (p.Gly1063=) c.3147C>T (p.Gly1049=) c.3012C>T (p.Gly1004=) c.3144C>T (p.Gly1048=) n.329+2865G>A | |
6 | g.33443742C>A | CA363631952 | SYNGAP1,SYNGAP1-AS1 | c.2932C>A (p.Gln978Lys) c.3190C>A (p.Gln1064Lys) c.3148C>A (p.Gln1050Lys) c.3013C>A (p.Gln1005Lys) c.3145C>A (p.Gln1049Lys) n.329+2864G>T | |
6 | g.33443742C= | CA1620014771 | SYNGAP1,SYNGAP1-AS1 | c.2932C= (p.Gln978=) c.3190C= (p.Gln1064=) c.3148C= (p.Gln1050=) c.3013C= (p.Gln1005=) c.3145C= (p.Gln1049=) n.329+2864G= | |
6 | g.33443742C>G | CA363631954 | SYNGAP1,SYNGAP1-AS1 | c.2932C>G (p.Gln978Glu) c.3190C>G (p.Gln1064Glu) c.3148C>G (p.Gln1050Glu) c.3013C>G (p.Gln1005Glu) c.3145C>G (p.Gln1049Glu) n.329+2864G>C | |
6 | g.33443742C>T | CA363631955 | SYNGAP1,SYNGAP1-AS1 | c.2932C>T (p.Gln978Ter) c.3190C>T (p.Gln1064Ter) c.3148C>T (p.Gln1050Ter) c.3013C>T (p.Gln1005Ter) c.3145C>T (p.Gln1049Ter) n.329+2864G>A | ClinVar dbSNP |
6 | g.33443743A>C | CA363631957 | SYNGAP1,SYNGAP1-AS1 | c.2933A>C (p.Gln978Pro) c.3191A>C (p.Gln1064Pro) c.3149A>C (p.Gln1050Pro) c.3014A>C (p.Gln1005Pro) c.3146A>C (p.Gln1049Pro) n.329+2863T>G | |
6 | g.33443743A>G | CA363631959 | SYNGAP1,SYNGAP1-AS1 | c.2933A>G (p.Gln978Arg) c.3191A>G (p.Gln1064Arg) c.3149A>G (p.Gln1050Arg) c.3014A>G (p.Gln1005Arg) c.3146A>G (p.Gln1049Arg) n.329+2863T>C | |
6 | g.33443743A>T | CA363631962 | SYNGAP1,SYNGAP1-AS1 | c.2933A>T (p.Gln978Leu) c.3191A>T (p.Gln1064Leu) c.3149A>T (p.Gln1050Leu) c.3014A>T (p.Gln1005Leu) c.3146A>T (p.Gln1049Leu) n.329+2863T>A | |
6 | g.33443744G>A | CA450104317 | SYNGAP1,SYNGAP1-AS1 | c.2934G>A (p.Gln978=) c.3192G>A (p.Gln1064=) c.3150G>A (p.Gln1050=) c.3015G>A (p.Gln1005=) c.3147G>A (p.Gln1049=) n.329+2862C>T | gnomAD v4 |
6 | g.33443744G>C | CA363631964 | SYNGAP1,SYNGAP1-AS1 | c.2934G>C (p.Gln978His) c.3192G>C (p.Gln1064His) c.3150G>C (p.Gln1050His) c.3015G>C (p.Gln1005His) c.3147G>C (p.Gln1049His) n.329+2862C>G | dbSNP |
6 | g.33443744G>T | CA363631967 | SYNGAP1,SYNGAP1-AS1 | c.2934G>T (p.Gln978His) c.3192G>T (p.Gln1064His) c.3150G>T (p.Gln1050His) c.3015G>T (p.Gln1005His) c.3147G>T (p.Gln1049His) n.329+2862C>A | |
6 | g.33443745C>A | CA363631972 | SYNGAP1,SYNGAP1-AS1 | c.2935C>A (p.Pro979Thr) c.3193C>A (p.Pro1065Thr) c.3151C>A (p.Pro1051Thr) c.3016C>A (p.Pro1006Thr) c.3148C>A (p.Pro1050Thr) n.329+2861G>T | |
6 | g.33443745C>G | CA363631975 | SYNGAP1,SYNGAP1-AS1 | c.2935C>G (p.Pro979Ala) c.3193C>G (p.Pro1065Ala) c.3151C>G (p.Pro1051Ala) c.3016C>G (p.Pro1006Ala) c.3148C>G (p.Pro1050Ala) n.329+2861G>C | |
6 | g.33443745C>T | CA363631978 | SYNGAP1,SYNGAP1-AS1 | c.2935C>T (p.Pro979Ser) c.3193C>T (p.Pro1065Ser) c.3151C>T (p.Pro1051Ser) c.3016C>T (p.Pro1006Ser) c.3148C>T (p.Pro1050Ser) n.329+2861G>A | |
6 | g.33443746C>A | CA363631986 | SYNGAP1,SYNGAP1-AS1 | c.2936C>A (p.Pro979Gln) c.3194C>A (p.Pro1065Gln) c.3152C>A (p.Pro1051Gln) c.3017C>A (p.Pro1006Gln) c.3149C>A (p.Pro1050Gln) n.329+2860G>T | |
6 | g.33443746C= | CA1620014772 | SYNGAP1,SYNGAP1-AS1 | c.2936C= (p.Pro979=) c.3194C= (p.Pro1065=) c.3152C= (p.Pro1051=) c.3017C= (p.Pro1006=) c.3149C= (p.Pro1050=) n.329+2860G= | |
6 | g.33443746C>G | CA363631984 | SYNGAP1,SYNGAP1-AS1 | c.2936C>G (p.Pro979Arg) c.3194C>G (p.Pro1065Arg) c.3152C>G (p.Pro1051Arg) c.3017C>G (p.Pro1006Arg) c.3149C>G (p.Pro1050Arg) n.329+2860G>C | |
6 | g.33443746C>T | CA137073448 | SYNGAP1,SYNGAP1-AS1 | c.2936C>T (p.Pro979Leu) c.3194C>T (p.Pro1065Leu) c.3152C>T (p.Pro1051Leu) c.3017C>T (p.Pro1006Leu) c.3149C>T (p.Pro1050Leu) n.329+2860G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443747G>A | CA3758999 | SYNGAP1,SYNGAP1-AS1 | c.2937G>A (p.Pro979=) c.3195G>A (p.Pro1065=) c.3153G>A (p.Pro1051=) c.3018G>A (p.Pro1006=) c.3150G>A (p.Pro1050=) n.329+2859C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.33443747G>C | CA450104318 | SYNGAP1,SYNGAP1-AS1 | c.2937G>C (p.Pro979=) c.3195G>C (p.Pro1065=) c.3153G>C (p.Pro1051=) c.3018G>C (p.Pro1006=) c.3150G>C (p.Pro1050=) n.329+2859C>G | |
6 | g.33443747G= | CA1620014773 | SYNGAP1,SYNGAP1-AS1 | c.2937G= (p.Pro979=) c.3195G= (p.Pro1065=) c.3153G= (p.Pro1051=) c.3018G= (p.Pro1006=) c.3150G= (p.Pro1050=) n.329+2859C= | |
6 | g.33443747G>T | CA450104319 | SYNGAP1,SYNGAP1-AS1 | c.2937G>T (p.Pro979=) c.3195G>T (p.Pro1065=) c.3153G>T (p.Pro1051=) c.3018G>T (p.Pro1006=) c.3150G>T (p.Pro1050=) n.329+2859C>A | |
6 | g.33443748C>A | CA363631994 | SYNGAP1,SYNGAP1-AS1 | c.2938C>A (p.Pro980Thr) c.3196C>A (p.Pro1066Thr) c.3154C>A (p.Pro1052Thr) c.3019C>A (p.Pro1007Thr) c.3151C>A (p.Pro1051Thr) n.329+2858G>T | |
6 | g.33443748C>G | CA363631997 | SYNGAP1,SYNGAP1-AS1 | c.2938C>G (p.Pro980Ala) c.3196C>G (p.Pro1066Ala) c.3154C>G (p.Pro1052Ala) c.3019C>G (p.Pro1007Ala) c.3151C>G (p.Pro1051Ala) n.329+2858G>C | |
6 | g.33443748C>T | CA363632001 | SYNGAP1,SYNGAP1-AS1 | c.2938C>T (p.Pro980Ser) c.3196C>T (p.Pro1066Ser) c.3154C>T (p.Pro1052Ser) c.3019C>T (p.Pro1007Ser) c.3151C>T (p.Pro1051Ser) n.329+2858G>A | ClinVar dbSNP |
6 | g.33443749C>A | CA363632005 | SYNGAP1,SYNGAP1-AS1 | c.2939C>A (p.Pro980His) c.3197C>A (p.Pro1066His) c.3155C>A (p.Pro1052His) c.3020C>A (p.Pro1007His) c.3152C>A (p.Pro1051His) n.329+2857G>T | |
6 | g.33443749C= | CA1620014774 | SYNGAP1,SYNGAP1-AS1 | c.2939C= (p.Pro980=) c.3197C= (p.Pro1066=) c.3155C= (p.Pro1052=) c.3020C= (p.Pro1007=) c.3152C= (p.Pro1051=) n.329+2857G= | |
6 | g.33443749C>G | CA363632009 | SYNGAP1,SYNGAP1-AS1 | c.2939C>G (p.Pro980Arg) c.3197C>G (p.Pro1066Arg) c.3155C>G (p.Pro1052Arg) c.3020C>G (p.Pro1007Arg) c.3152C>G (p.Pro1051Arg) n.329+2857G>C | |
6 | g.33443749C>T | CA3759000 | SYNGAP1,SYNGAP1-AS1 | c.2939C>T (p.Pro980Leu) c.3197C>T (p.Pro1066Leu) c.3155C>T (p.Pro1052Leu) c.3020C>T (p.Pro1007Leu) c.3152C>T (p.Pro1051Leu) n.329+2857G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443750T>A | CA450104320 | SYNGAP1,SYNGAP1-AS1 | c.2940T>A (p.Pro980=) c.3198T>A (p.Pro1066=) c.3156T>A (p.Pro1052=) c.3021T>A (p.Pro1007=) c.3153T>A (p.Pro1051=) n.329+2856A>T | |
6 | g.33443750T>C | CA450104321 | SYNGAP1,SYNGAP1-AS1 | c.2940T>C (p.Pro980=) c.3198T>C (p.Pro1066=) c.3156T>C (p.Pro1052=) c.3021T>C (p.Pro1007=) c.3153T>C (p.Pro1051=) n.329+2856A>G | |
6 | g.33443750T>G | CA3759001 | SYNGAP1,SYNGAP1-AS1 | c.2940T>G (p.Pro980=) c.3198T>G (p.Pro1066=) c.3156T>G (p.Pro1052=) c.3021T>G (p.Pro1007=) c.3153T>G (p.Pro1051=) n.329+2856A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.33443750T= | CA1620014775 | SYNGAP1,SYNGAP1-AS1 | c.2940T= (p.Pro980=) c.3198T= (p.Pro1066=) c.3156T= (p.Pro1052=) c.3021T= (p.Pro1007=) c.3153T= (p.Pro1051=) n.329+2856A= | |
6 | g.33443750_33443751delinsTC | CA1620014776 | SYNGAP1,SYNGAP1-AS1 | c.2940_2941delinsTC (p.Pro980=) c.3198_3199delinsTC (p.Pro1066=) c.3156_3157delinsTC (p.Pro1052=) c.3021_3022delinsTC (p.Pro1007=) c.3153_3154delinsTC (p.Pro1051=) n.329+2855_329+2856delinsGA | |
6 | g.33443751C>A | CA363632025 | SYNGAP1,SYNGAP1-AS1 | c.2941C>A (p.Pro981Thr) c.3199C>A (p.Pro1067Thr) c.3157C>A (p.Pro1053Thr) c.3022C>A (p.Pro1008Thr) c.3154C>A (p.Pro1052Thr) n.329+2855G>T | |
6 | g.33443751C= | CA1620014777 | SYNGAP1,SYNGAP1-AS1 | c.2941C= (p.Pro981=) c.3199C= (p.Pro1067=) c.3157C= (p.Pro1053=) c.3022C= (p.Pro1008=) c.3154C= (p.Pro1052=) n.329+2855G= | |
6 | g.33443751C>G | CA3759002 | SYNGAP1,SYNGAP1-AS1 | c.2941C>G (p.Pro981Ala) c.3199C>G (p.Pro1067Ala) c.3157C>G (p.Pro1053Ala) c.3022C>G (p.Pro1008Ala) c.3154C>G (p.Pro1052Ala) n.329+2855G>C | dbSNP ExAC gnomAD v2 |
6 | g.33443751C>T | CA363632029 | SYNGAP1,SYNGAP1-AS1 | c.2941C>T (p.Pro981Ser) c.3199C>T (p.Pro1067Ser) c.3157C>T (p.Pro1053Ser) c.3022C>T (p.Pro1008Ser) c.3154C>T (p.Pro1052Ser) n.329+2855G>A | dbSNP |
6 | g.33443752del | CA16043416 | SYNGAP1,SYNGAP1-AS1 | c.2942del (p.Pro981HisfsTer10) c.3200del (p.Pro1067HisfsTer10) c.3158del (p.Pro1053HisfsTer10) c.3023del (p.Pro1008HisfsTer10) c.3155del (p.Pro1052HisfsTer10) n.329+2855del | ClinVar dbSNP |
6 | g.33443752C>A | CA363632041 | SYNGAP1,SYNGAP1-AS1 | c.2942C>A (p.Pro981Gln) c.3200C>A (p.Pro1067Gln) c.3158C>A (p.Pro1053Gln) c.3023C>A (p.Pro1008Gln) c.3155C>A (p.Pro1052Gln) n.329+2854G>T | |
6 | g.33443752C>G | CA363632043 | SYNGAP1,SYNGAP1-AS1 | c.2942C>G (p.Pro981Arg) c.3200C>G (p.Pro1067Arg) c.3158C>G (p.Pro1053Arg) c.3023C>G (p.Pro1008Arg) c.3155C>G (p.Pro1052Arg) n.329+2854G>C | |
6 | g.33443752C>T | CA363632038 | SYNGAP1,SYNGAP1-AS1 | c.2942C>T (p.Pro981Leu) c.3200C>T (p.Pro1067Leu) c.3158C>T (p.Pro1053Leu) c.3023C>T (p.Pro1008Leu) c.3155C>T (p.Pro1052Leu) n.329+2854G>A | |
6 | g.33443753A>C | CA450104324 | SYNGAP1,SYNGAP1-AS1 | c.2943A>C (p.Pro981=) c.3201A>C (p.Pro1067=) c.3159A>C (p.Pro1053=) c.3024A>C (p.Pro1008=) c.3156A>C (p.Pro1052=) n.329+2853T>G | |
6 | g.33443753A>G | CA450104322 | SYNGAP1,SYNGAP1-AS1 | c.2943A>G (p.Pro981=) c.3201A>G (p.Pro1067=) c.3159A>G (p.Pro1053=) c.3024A>G (p.Pro1008=) c.3156A>G (p.Pro1052=) n.329+2853T>C | |
6 | g.33443753A>T | CA450104323 | SYNGAP1,SYNGAP1-AS1 | c.2943A>T (p.Pro981=) c.3201A>T (p.Pro1067=) c.3159A>T (p.Pro1053=) c.3024A>T (p.Pro1008=) c.3156A>T (p.Pro1052=) n.329+2853T>A | |
6 | g.33443754T>A | CA363632047 | SYNGAP1,SYNGAP1-AS1 | c.2944T>A (p.Leu982Met) c.3202T>A (p.Leu1068Met) c.3160T>A (p.Leu1054Met) c.3025T>A (p.Leu1009Met) c.3157T>A (p.Leu1053Met) n.329+2852A>T | |
6 | g.33443754T>C | CA450104325 | SYNGAP1,SYNGAP1-AS1 | c.2944T>C (p.Leu982=) c.3202T>C (p.Leu1068=) c.3160T>C (p.Leu1054=) c.3025T>C (p.Leu1009=) c.3157T>C (p.Leu1053=) n.329+2852A>G | ClinVar dbSNP gnomAD v4 |
6 | g.33443754T>G | CA363632058 | SYNGAP1,SYNGAP1-AS1 | c.2944T>G (p.Leu982Val) c.3202T>G (p.Leu1068Val) c.3160T>G (p.Leu1054Val) c.3025T>G (p.Leu1009Val) c.3157T>G (p.Leu1053Val) n.329+2852A>C | |
6 | g.33443754T= | CA1620014778 | SYNGAP1,SYNGAP1-AS1 | c.2944T= (p.Leu982=) c.3202T= (p.Leu1068=) c.3160T= (p.Leu1054=) c.3025T= (p.Leu1009=) c.3157T= (p.Leu1053=) n.329+2852A= | |
6 | g.33443755T>A | CA363632062 | SYNGAP1,SYNGAP1-AS1 | c.2945T>A (p.Leu982Ter) c.3203T>A (p.Leu1068Ter) c.3161T>A (p.Leu1054Ter) c.3026T>A (p.Leu1009Ter) c.3158T>A (p.Leu1053Ter) n.329+2851A>T | dbSNP |
6 | g.33443755T>C | CA363632063 | SYNGAP1,SYNGAP1-AS1 | c.2945T>C (p.Leu982Ser) c.3203T>C (p.Leu1068Ser) c.3161T>C (p.Leu1054Ser) c.3026T>C (p.Leu1009Ser) c.3158T>C (p.Leu1053Ser) n.329+2851A>G | |
6 | g.33443755T>G | CA363632064 | SYNGAP1,SYNGAP1-AS1 | c.2945T>G (p.Leu982Trp) c.3203T>G (p.Leu1068Trp) c.3161T>G (p.Leu1054Trp) c.3026T>G (p.Leu1009Trp) c.3158T>G (p.Leu1053Trp) n.329+2851A>C | |
6 | g.33443755T= | CA1620014779 | SYNGAP1,SYNGAP1-AS1 | c.2945T= (p.Leu982=) c.3203T= (p.Leu1068=) c.3161T= (p.Leu1054=) c.3026T= (p.Leu1009=) c.3158T= (p.Leu1053=) n.329+2851A= | |
6 | g.33443756G>A | CA450104326 | SYNGAP1,SYNGAP1-AS1 | c.2946G>A (p.Leu982=) c.3204G>A (p.Leu1068=) c.3162G>A (p.Leu1054=) c.3027G>A (p.Leu1009=) c.3159G>A (p.Leu1053=) n.329+2850C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33443756G>C | CA363632065 | SYNGAP1,SYNGAP1-AS1 | c.2946G>C (p.Leu982Phe) c.3204G>C (p.Leu1068Phe) c.3162G>C (p.Leu1054Phe) c.3027G>C (p.Leu1009Phe) c.3159G>C (p.Leu1053Phe) n.329+2850C>G | |
6 | g.33443756G= | CA1620014780 | SYNGAP1,SYNGAP1-AS1 | c.2946G= (p.Leu982=) c.3204G= (p.Leu1068=) c.3162G= (p.Leu1054=) c.3027G= (p.Leu1009=) c.3159G= (p.Leu1053=) n.329+2850C= | |
6 | g.33443756G>T | CA363632066 | SYNGAP1,SYNGAP1-AS1 | c.2946G>T (p.Leu982Phe) c.3204G>T (p.Leu1068Phe) c.3162G>T (p.Leu1054Phe) c.3027G>T (p.Leu1009Phe) c.3159G>T (p.Leu1053Phe) n.329+2850C>A | |
6 | g.33443757C>A | CA363632072 | SYNGAP1,SYNGAP1-AS1 | c.2947C>A (p.Gln983Lys) c.3205C>A (p.Gln1069Lys) c.3163C>A (p.Gln1055Lys) c.3028C>A (p.Gln1010Lys) c.3160C>A (p.Gln1054Lys) n.329+2849G>T | |
6 | g.33443757C= | CA1620014781 | SYNGAP1,SYNGAP1-AS1 | c.2947C= (p.Gln983=) c.3205C= (p.Gln1069=) c.3163C= (p.Gln1055=) c.3028C= (p.Gln1010=) c.3160C= (p.Gln1054=) n.329+2849G= | |
6 | g.33443757C>G | CA363632073 | SYNGAP1,SYNGAP1-AS1 | c.2947C>G (p.Gln983Glu) c.3205C>G (p.Gln1069Glu) c.3163C>G (p.Gln1055Glu) c.3028C>G (p.Gln1010Glu) c.3160C>G (p.Gln1054Glu) n.329+2849G>C | |
6 | g.33443757C>T | CA363632074 | SYNGAP1,SYNGAP1-AS1 | c.2947C>T (p.Gln983Ter) c.3205C>T (p.Gln1069Ter) c.3163C>T (p.Gln1055Ter) c.3028C>T (p.Gln1010Ter) c.3160C>T (p.Gln1054Ter) n.329+2849G>A | dbSNP |
6 | g.33443758A>C | CA363632077 | SYNGAP1,SYNGAP1-AS1 | c.2948A>C (p.Gln983Pro) c.3206A>C (p.Gln1069Pro) c.3164A>C (p.Gln1055Pro) c.3029A>C (p.Gln1010Pro) c.3161A>C (p.Gln1054Pro) n.329+2848T>G | |
6 | g.33443758A>G | CA363632078 | SYNGAP1,SYNGAP1-AS1 | c.2948A>G (p.Gln983Arg) c.3206A>G (p.Gln1069Arg) c.3164A>G (p.Gln1055Arg) c.3029A>G (p.Gln1010Arg) c.3161A>G (p.Gln1054Arg) n.329+2848T>C | |
6 | g.33443758A>T | CA363632079 | SYNGAP1,SYNGAP1-AS1 | c.2948A>T (p.Gln983Leu) c.3206A>T (p.Gln1069Leu) c.3164A>T (p.Gln1055Leu) c.3029A>T (p.Gln1010Leu) c.3161A>T (p.Gln1054Leu) n.329+2848T>A | |
6 | g.33443759G>A | CA450104327 | SYNGAP1,SYNGAP1-AS1 | c.2949G>A (p.Gln983=) c.3207G>A (p.Gln1069=) c.3165G>A (p.Gln1055=) c.3030G>A (p.Gln1010=) c.3162G>A (p.Gln1054=) n.329+2847C>T | |
6 | g.33443759G>C | CA363632084 | SYNGAP1,SYNGAP1-AS1 | c.2949G>C (p.Gln983His) c.3207G>C (p.Gln1069His) c.3165G>C (p.Gln1055His) c.3030G>C (p.Gln1010His) c.3162G>C (p.Gln1054His) n.329+2847C>G | |
6 | g.33443759G>T | CA363632081 | SYNGAP1,SYNGAP1-AS1 | c.2949G>T (p.Gln983His) c.3207G>T (p.Gln1069His) c.3165G>T (p.Gln1055His) c.3030G>T (p.Gln1010His) c.3162G>T (p.Gln1054His) n.329+2847C>A | |
6 | g.33443760A>C | CA450104328 | SYNGAP1,SYNGAP1-AS1 | c.2950A>C (p.Arg984=) c.3208A>C (p.Arg1070=) c.3166A>C (p.Arg1056=) c.3031A>C (p.Arg1011=) c.3163A>C (p.Arg1055=) n.329+2846T>G | |
6 | g.33443760A>G | CA363632088 | SYNGAP1,SYNGAP1-AS1 | c.2950A>G (p.Arg984Gly) c.3208A>G (p.Arg1070Gly) c.3166A>G (p.Arg1056Gly) c.3031A>G (p.Arg1011Gly) c.3163A>G (p.Arg1055Gly) n.329+2846T>C | |
6 | g.33443760A>T | CA363632091 | SYNGAP1,SYNGAP1-AS1 | c.2950A>T (p.Arg984Trp) c.3208A>T (p.Arg1070Trp) c.3166A>T (p.Arg1056Trp) c.3031A>T (p.Arg1011Trp) c.3163A>T (p.Arg1055Trp) n.329+2846T>A |