| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 6 | g.33443761G>A | CA363632095 | SYNGAP1,SYNGAP1-AS1 | c.2951G>A (p.Arg984Lys) c.3209G>A (p.Arg1070Lys) c.3167G>A (p.Arg1056Lys) c.3032G>A (p.Arg1011Lys) c.3164G>A (p.Arg1055Lys) n.329+2845C>T | ClinVar dbSNP |
| 6 | g.33443761G>C | CA363632096 | SYNGAP1,SYNGAP1-AS1 | c.2951G>C (p.Arg984Thr) c.3209G>C (p.Arg1070Thr) c.3167G>C (p.Arg1056Thr) c.3032G>C (p.Arg1011Thr) c.3164G>C (p.Arg1055Thr) n.329+2845C>G | |
| 6 | g.33443761G= | CA1620014782 | SYNGAP1,SYNGAP1-AS1 | c.2951G= (p.Arg984=) c.3209G= (p.Arg1070=) c.3167G= (p.Arg1056=) c.3032G= (p.Arg1011=) c.3164G= (p.Arg1055=) n.329+2845C= | |
| 6 | g.33443761G>T | CA363632099 | SYNGAP1,SYNGAP1-AS1 | c.2951G>T (p.Arg984Met) c.3209G>T (p.Arg1070Met) c.3167G>T (p.Arg1056Met) c.3032G>T (p.Arg1011Met) c.3164G>T (p.Arg1055Met) n.329+2845C>A | |
| 6 | g.33443761_33443762delinsCA | CA2697553287 | SYNGAP1,SYNGAP1-AS1 | c.2951_2952delinsCA (p.Arg984Thr) c.3209_3210delinsCA (p.Arg1070Thr) c.3167_3168delinsCA (p.Arg1056Thr) c.3032_3033delinsCA (p.Arg1011Thr) c.3164_3165delinsCA (p.Arg1055Thr) n.329+2844_329+2845delinsTG | ClinVar |
| 6 | g.33443762G>A | CA450104329 | SYNGAP1,SYNGAP1-AS1 | c.2952G>A (p.Arg984=) c.3210G>A (p.Arg1070=) c.3168G>A (p.Arg1056=) c.3033G>A (p.Arg1011=) c.3165G>A (p.Arg1055=) n.329+2844C>T | |
| 6 | g.33443762G>C | CA363632101 | SYNGAP1,SYNGAP1-AS1 | c.2952G>C (p.Arg984Ser) c.3210G>C (p.Arg1070Ser) c.3168G>C (p.Arg1056Ser) c.3033G>C (p.Arg1011Ser) c.3165G>C (p.Arg1055Ser) n.329+2844C>G | |
| 6 | g.33443762G>T | CA363632104 | SYNGAP1,SYNGAP1-AS1 | c.2952G>T (p.Arg984Ser) c.3210G>T (p.Arg1070Ser) c.3168G>T (p.Arg1056Ser) c.3033G>T (p.Arg1011Ser) c.3165G>T (p.Arg1055Ser) n.329+2844C>A | |
| 6 | g.33443763G>A | CA363632107 | SYNGAP1,SYNGAP1-AS1 | c.2953G>A (p.Gly985Ser) c.3211G>A (p.Gly1071Ser) c.3169G>A (p.Gly1057Ser) c.3034G>A (p.Gly1012Ser) c.3166G>A (p.Gly1056Ser) n.329+2843C>T | |
| 6 | g.33443763G>C | CA363632110 | SYNGAP1,SYNGAP1-AS1 | c.2953G>C (p.Gly985Arg) c.3211G>C (p.Gly1071Arg) c.3169G>C (p.Gly1057Arg) c.3034G>C (p.Gly1012Arg) c.3166G>C (p.Gly1056Arg) n.329+2843C>G | |
| 6 | g.33443763G>T | CA363632114 | SYNGAP1,SYNGAP1-AS1 | c.2953G>T (p.Gly985Cys) c.3211G>T (p.Gly1071Cys) c.3169G>T (p.Gly1057Cys) c.3034G>T (p.Gly1012Cys) c.3166G>T (p.Gly1056Cys) n.329+2843C>A | |
| 6 | g.33443764G>A | CA363632123 | SYNGAP1,SYNGAP1-AS1 | c.2954G>A (p.Gly985Asp) c.3212G>A (p.Gly1071Asp) c.3170G>A (p.Gly1057Asp) c.3035G>A (p.Gly1012Asp) c.3167G>A (p.Gly1056Asp) n.329+2842C>T | |
| 6 | g.33443764G>C | CA363632125 | SYNGAP1,SYNGAP1-AS1 | c.2954G>C (p.Gly985Ala) c.3212G>C (p.Gly1071Ala) c.3170G>C (p.Gly1057Ala) c.3035G>C (p.Gly1012Ala) c.3167G>C (p.Gly1056Ala) n.329+2842C>G | |
| 6 | g.33443764G>T | CA363632128 | SYNGAP1,SYNGAP1-AS1 | c.2954G>T (p.Gly985Val) c.3212G>T (p.Gly1071Val) c.3170G>T (p.Gly1057Val) c.3035G>T (p.Gly1012Val) c.3167G>T (p.Gly1056Val) n.329+2842C>A | gnomAD v4 |
| 6 | g.33443767_33443776del | CA2695206225 | SYNGAP1,SYNGAP1-AS1 | c.2957_2966del (p.Lys986SerfsTer2) c.3215_3224del (p.Lys1072SerfsTer2) c.3173_3182del (p.Lys1058SerfsTer2) c.3038_3047del (p.Lys1013SerfsTer2) c.3170_3179del (p.Lys1057SerfsTer2) n.329+2833_329+2842del | |
| 6 | g.33443765del | CA2580074396 | SYNGAP1,SYNGAP1-AS1 | c.2955del (p.Lys986SerfsTer5) c.3213del (p.Lys1072SerfsTer5) c.3171del (p.Lys1058SerfsTer5) c.3036del (p.Lys1013SerfsTer5) c.3168del (p.Lys1057SerfsTer5) n.329+2841del | ClinVar |
| 6 | g.33443765C>A | CA450104330 | SYNGAP1,SYNGAP1-AS1 | c.2955C>A (p.Gly985=) c.3213C>A (p.Gly1071=) c.3171C>A (p.Gly1057=) c.3036C>A (p.Gly1012=) c.3168C>A (p.Gly1056=) n.329+2841G>T | |
| 6 | g.33443765C>G | CA450104331 | SYNGAP1,SYNGAP1-AS1 | c.2955C>G (p.Gly985=) c.3213C>G (p.Gly1071=) c.3171C>G (p.Gly1057=) c.3036C>G (p.Gly1012=) c.3168C>G (p.Gly1056=) n.329+2841G>C |