Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33443553C>ACA363630287SYNGAP1,SYNGAP1-AS1c.2743C>A (p.Leu915Ile)
c.3001C>A (p.Leu1001Ile)
c.2959C>A (p.Leu987Ile)
c.2824C>A (p.Leu942Ile)
c.2956C>A (p.Leu986Ile)
n.329+3053G>T
6g.33443553C>GCA363630288SYNGAP1,SYNGAP1-AS1c.2743C>G (p.Leu915Val)
c.3001C>G (p.Leu1001Val)
c.2959C>G (p.Leu987Val)
c.2824C>G (p.Leu942Val)
c.2956C>G (p.Leu986Val)
n.329+3053G>C
6g.33443553C>TCA363630289SYNGAP1,SYNGAP1-AS1c.2743C>T (p.Leu915Phe)
c.3001C>T (p.Leu1001Phe)
c.2959C>T (p.Leu987Phe)
c.2824C>T (p.Leu942Phe)
c.2956C>T (p.Leu986Phe)
n.329+3053G>A
6g.33443554T>ACA363630292SYNGAP1,SYNGAP1-AS1c.2744T>A (p.Leu915His)
c.3002T>A (p.Leu1001His)
c.2960T>A (p.Leu987His)
c.2825T>A (p.Leu942His)
c.2957T>A (p.Leu986His)
n.329+3052A>T
6g.33443554T>CCA3758972SYNGAP1,SYNGAP1-AS1c.2744T>C (p.Leu915Pro)
c.3002T>C (p.Leu1001Pro)
c.2960T>C (p.Leu987Pro)
c.2825T>C (p.Leu942Pro)
c.2957T>C (p.Leu986Pro)
n.329+3052A>G
 ClinVar dbSNP ExAC gnomAD v2
6g.33443554T>GCA363630308SYNGAP1,SYNGAP1-AS1c.2744T>G (p.Leu915Arg)
c.3002T>G (p.Leu1001Arg)
c.2960T>G (p.Leu987Arg)
c.2825T>G (p.Leu942Arg)
c.2957T>G (p.Leu986Arg)
n.329+3052A>C
6g.33443554T=CA1620014682SYNGAP1,SYNGAP1-AS1c.2744T= (p.Leu915=)
c.3002T= (p.Leu1001=)
c.2960T= (p.Leu987=)
c.2825T= (p.Leu942=)
c.2957T= (p.Leu986=)
n.329+3052A=
6g.33443555T>ACA450104163SYNGAP1,SYNGAP1-AS1c.2745T>A (p.Leu915=)
c.3003T>A (p.Leu1001=)
c.2961T>A (p.Leu987=)
c.2826T>A (p.Leu942=)
c.2958T>A (p.Leu986=)
n.329+3051A>T
6g.33443555T>CCA450104162SYNGAP1,SYNGAP1-AS1c.2745T>C (p.Leu915=)
c.3003T>C (p.Leu1001=)
c.2961T>C (p.Leu987=)
c.2826T>C (p.Leu942=)
c.2958T>C (p.Leu986=)
n.329+3051A>G
6g.33443555T>GCA450104161SYNGAP1,SYNGAP1-AS1c.2745T>G (p.Leu915=)
c.3003T>G (p.Leu1001=)
c.2961T>G (p.Leu987=)
c.2826T>G (p.Leu942=)
c.2958T>G (p.Leu986=)
n.329+3051A>C
6g.33443556C>ACA363630314SYNGAP1,SYNGAP1-AS1c.2746C>A (p.His916Asn)
c.3004C>A (p.His1002Asn)
c.2962C>A (p.His988Asn)
c.2827C>A (p.His943Asn)
c.2959C>A (p.His987Asn)
n.329+3050G>T
6g.33443556C>GCA363630315SYNGAP1,SYNGAP1-AS1c.2746C>G (p.His916Asp)
c.3004C>G (p.His1002Asp)
c.2962C>G (p.His988Asp)
c.2827C>G (p.His943Asp)
c.2959C>G (p.His987Asp)
n.329+3050G>C
6g.33443556C>TCA363630317SYNGAP1,SYNGAP1-AS1c.2746C>T (p.His916Tyr)
c.3004C>T (p.His1002Tyr)
c.2962C>T (p.His988Tyr)
c.2827C>T (p.His943Tyr)
c.2959C>T (p.His987Tyr)
n.329+3050G>A
6g.33443557A>CCA363630319SYNGAP1,SYNGAP1-AS1c.2747A>C (p.His916Pro)
c.3005A>C (p.His1002Pro)
c.2963A>C (p.His988Pro)
c.2828A>C (p.His943Pro)
c.2960A>C (p.His987Pro)
n.329+3049T>G
6g.33443557A>GCA363630321SYNGAP1,SYNGAP1-AS1c.2747A>G (p.His916Arg)
c.3005A>G (p.His1002Arg)
c.2963A>G (p.His988Arg)
c.2828A>G (p.His943Arg)
c.2960A>G (p.His987Arg)
n.329+3049T>C
 gnomAD v4
6g.33443557A>TCA363630322SYNGAP1,SYNGAP1-AS1c.2747A>T (p.His916Leu)
c.3005A>T (p.His1002Leu)
c.2963A>T (p.His988Leu)
c.2828A>T (p.His943Leu)
c.2960A>T (p.His987Leu)
n.329+3049T>A
6g.33443558T>ACA363630325SYNGAP1,SYNGAP1-AS1c.2748T>A (p.His916Gln)
c.3006T>A (p.His1002Gln)
c.2964T>A (p.His988Gln)
c.2829T>A (p.His943Gln)
c.2961T>A (p.His987Gln)
n.329+3048A>T
6g.33443558T>CCA450104165SYNGAP1,SYNGAP1-AS1c.2748T>C (p.His916=)
c.3006T>C (p.His1002=)
c.2964T>C (p.His988=)
c.2829T>C (p.His943=)
c.2961T>C (p.His987=)
n.329+3048A>G
6g.33443558T>GCA363630329SYNGAP1,SYNGAP1-AS1c.2748T>G (p.His916Gln)
c.3006T>G (p.His1002Gln)
c.2964T>G (p.His988Gln)
c.2829T>G (p.His943Gln)
c.2961T>G (p.His987Gln)
n.329+3048A>C
6g.33443558_33443559insTTTTTTTTTTCA2678276466SYNGAP1,SYNGAP1-AS1c.2748_2749insTTTTTTTTTT (p.Ser917PhefsTer4)
c.3006_3007insTTTTTTTTTT (p.Ser1003PhefsTer4)
c.2964_2965insTTTTTTTTTT (p.Ser989PhefsTer4)
c.2829_2830insTTTTTTTTTT (p.Ser944PhefsTer4)
c.2961_2962insTTTTTTTTTT (p.Ser988PhefsTer4)
n.329+3048_329+3049insAAAAAAAAAA
 gnomAD v4
6g.33443558_33443559insTTTTTTTTTTAATGATACGGCGCA2770567200SYNGAP1,SYNGAP1-AS1c.2748_2749insTTTTTTTTTTAATGATACGGCG (p.Ser917PhefsTer4)
c.3006_3007insTTTTTTTTTTAATGATACGGCG (p.Ser1003PhefsTer4)
c.2964_2965insTTTTTTTTTTAATGATACGGCG (p.Ser989PhefsTer4)
c.2829_2830insTTTTTTTTTTAATGATACGGCG (p.Ser944PhefsTer4)
c.2961_2962insTTTTTTTTTTAATGATACGGCG (p.Ser988PhefsTer4)
n.329+3047_329+3048insCGCCGTATCATTAAAAAAAAAA
6g.33443559A=CA1620014683SYNGAP1,SYNGAP1-AS1c.2749A= (p.Ser917=)
c.3007A= (p.Ser1003=)
c.2965A= (p.Ser989=)
c.2830A= (p.Ser944=)
c.2962A= (p.Ser988=)
n.329+3047T=
6g.33443559A>CCA363630338SYNGAP1,SYNGAP1-AS1c.2749A>C (p.Ser917Arg)
c.3007A>C (p.Ser1003Arg)
c.2965A>C (p.Ser989Arg)
c.2830A>C (p.Ser944Arg)
c.2962A>C (p.Ser988Arg)
n.329+3047T>G
6g.33443559A>GCA363630331SYNGAP1,SYNGAP1-AS1c.2749A>G (p.Ser917Gly)
c.3007A>G (p.Ser1003Gly)
c.2965A>G (p.Ser989Gly)
c.2830A>G (p.Ser944Gly)
c.2962A>G (p.Ser988Gly)
n.329+3047T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33443559A>TCA363630334SYNGAP1,SYNGAP1-AS1c.2749A>T (p.Ser917Cys)
c.3007A>T (p.Ser1003Cys)
c.2965A>T (p.Ser989Cys)
c.2830A>T (p.Ser944Cys)
c.2962A>T (p.Ser988Cys)
n.329+3047T>A
6g.33443560delCA2770567203SYNGAP1,SYNGAP1-AS1c.2750del (p.Ser917ThrfsTer?)
c.3008del (p.Ser1003ThrfsTer?)
c.2966del (p.Ser989ThrfsTer?)
c.2831del (p.Ser944ThrfsTer?)
c.2963del (p.Ser988ThrfsTer?)
n.329+3046del
6g.33443560G>ACA363630340SYNGAP1,SYNGAP1-AS1c.2750G>A (p.Ser917Asn)
c.3008G>A (p.Ser1003Asn)
c.2966G>A (p.Ser989Asn)
c.2831G>A (p.Ser944Asn)
c.2963G>A (p.Ser988Asn)
n.329+3046C>T
6g.33443560G>CCA363630341SYNGAP1,SYNGAP1-AS1c.2750G>C (p.Ser917Thr)
c.3008G>C (p.Ser1003Thr)
c.2966G>C (p.Ser989Thr)
c.2831G>C (p.Ser944Thr)
c.2963G>C (p.Ser988Thr)
n.329+3046C>G
6g.33443560G>TCA363630350SYNGAP1,SYNGAP1-AS1c.2750G>T (p.Ser917Ile)
c.3008G>T (p.Ser1003Ile)
c.2966G>T (p.Ser989Ile)
c.2831G>T (p.Ser944Ile)
c.2963G>T (p.Ser988Ile)
n.329+3046C>A
6g.33443560_33443574delCA2678276470SYNGAP1,SYNGAP1-AS1c.2750_2764del (p.Ser917_Asp922delinsAsn)
c.3008_3022del (p.Ser1003_Asp1008delinsAsn)
c.2966_2980del (p.Ser989_Asp994delinsAsn)
c.2831_2845del (p.Ser944_Asp949delinsAsn)
c.2963_2977del (p.Ser988_Asp993delinsAsn)
n.329+3032_329+3046del
 gnomAD v4
6g.33443561C>ACA363630356SYNGAP1,SYNGAP1-AS1c.2751C>A (p.Ser917Arg)
c.3009C>A (p.Ser1003Arg)
c.2967C>A (p.Ser989Arg)
c.2832C>A (p.Ser944Arg)
c.2964C>A (p.Ser988Arg)
n.329+3045G>T
6g.33443561C>GCA363630359SYNGAP1,SYNGAP1-AS1c.2751C>G (p.Ser917Arg)
c.3009C>G (p.Ser1003Arg)
c.2967C>G (p.Ser989Arg)
c.2832C>G (p.Ser944Arg)
c.2964C>G (p.Ser988Arg)
n.329+3045G>C
 ClinVar dbSNP
6g.33443561C>TCA450104168SYNGAP1,SYNGAP1-AS1c.2751C>T (p.Ser917=)
c.3009C>T (p.Ser1003=)
c.2967C>T (p.Ser989=)
c.2832C>T (p.Ser944=)
c.2964C>T (p.Ser988=)
n.329+3045G>A
6g.33443562C>ACA363630363SYNGAP1,SYNGAP1-AS1c.2752C>A (p.His918Asn)
c.3010C>A (p.His1004Asn)
c.2968C>A (p.His990Asn)
c.2833C>A (p.His945Asn)
c.2965C>A (p.His989Asn)
n.329+3044G>T
6g.33443562C>GCA363630364SYNGAP1,SYNGAP1-AS1c.2752C>G (p.His918Asp)
c.3010C>G (p.His1004Asp)
c.2968C>G (p.His990Asp)
c.2833C>G (p.His945Asp)
c.2965C>G (p.His989Asp)
n.329+3044G>C
6g.33443562C>TCA363630368SYNGAP1,SYNGAP1-AS1c.2752C>T (p.His918Tyr)
c.3010C>T (p.His1004Tyr)
c.2968C>T (p.His990Tyr)
c.2833C>T (p.His945Tyr)
c.2965C>T (p.His989Tyr)
n.329+3044G>A
6g.33443562_33443563insTTTTTTACA2678276471SYNGAP1,SYNGAP1-AS1c.2752_2753insTTTTTTA (p.His918LeufsTer3)
c.3010_3011insTTTTTTA (p.His1004LeufsTer3)
c.2968_2969insTTTTTTA (p.His990LeufsTer3)
c.2833_2834insTTTTTTA (p.His945LeufsTer3)
c.2965_2966insTTTTTTA (p.His989LeufsTer3)
n.329+3043_329+3044insTAAAAAA
 gnomAD v4
6g.33443562_33443563insTTTTTTAATGAGCA2678276475SYNGAP1,SYNGAP1-AS1c.2752_2753insTTTTTTAATGAG (p.His918LeufsTer3)
c.3010_3011insTTTTTTAATGAG (p.His1004LeufsTer3)
c.2968_2969insTTTTTTAATGAG (p.His990LeufsTer3)
c.2833_2834insTTTTTTAATGAG (p.His945LeufsTer3)
c.2965_2966insTTTTTTAATGAG (p.His989LeufsTer3)
n.329+3043_329+3044insCTCATTAAAAAA
 gnomAD v4
6g.33443562_33443563insTTTTTTAATGATCA2678276474SYNGAP1,SYNGAP1-AS1c.2752_2753insTTTTTTAATGAT (p.His918LeufsTer3)
c.3010_3011insTTTTTTAATGAT (p.His1004LeufsTer3)
c.2968_2969insTTTTTTAATGAT (p.His990LeufsTer3)
c.2833_2834insTTTTTTAATGAT (p.His945LeufsTer3)
c.2965_2966insTTTTTTAATGAT (p.His989LeufsTer3)
n.329+3043_329+3044insATCATTAAAAAA
 gnomAD v4
6g.33443563A>CCA363630374SYNGAP1,SYNGAP1-AS1c.2753A>C (p.His918Pro)
c.3011A>C (p.His1004Pro)
c.2969A>C (p.His990Pro)
c.2834A>C (p.His945Pro)
c.2966A>C (p.His989Pro)
n.329+3043T>G
6g.33443563A>GCA363630376SYNGAP1,SYNGAP1-AS1c.2753A>G (p.His918Arg)
c.3011A>G (p.His1004Arg)
c.2969A>G (p.His990Arg)
c.2834A>G (p.His945Arg)
c.2966A>G (p.His989Arg)
n.329+3043T>C
6g.33443563A>TCA363630379SYNGAP1,SYNGAP1-AS1c.2753A>T (p.His918Leu)
c.3011A>T (p.His1004Leu)
c.2969A>T (p.His990Leu)
c.2834A>T (p.His945Leu)
c.2966A>T (p.His989Leu)
n.329+3043T>A
6g.33443563_33443566delCA2678276472SYNGAP1,SYNGAP1-AS1c.2753_2756del (p.His918ProfsTer?)
c.3011_3014del (p.His1004ProfsTer?)
c.2969_2972del (p.His990ProfsTer?)
c.2834_2837del (p.His945ProfsTer?)
c.2966_2969del (p.His989ProfsTer?)
n.329+3040_329+3043del
 gnomAD v4
6g.33443564C>ACA363630383SYNGAP1,SYNGAP1-AS1c.2754C>A (p.His918Gln)
c.3012C>A (p.His1004Gln)
c.2970C>A (p.His990Gln)
c.2835C>A (p.His945Gln)
c.2967C>A (p.His989Gln)
n.329+3042G>T
6g.33443564C=CA1620014684SYNGAP1,SYNGAP1-AS1c.2754C= (p.His918=)
c.3012C= (p.His1004=)
c.2970C= (p.His990=)
c.2835C= (p.His945=)
c.2967C= (p.His989=)
n.329+3042G=
6g.33443564C>GCA363630386SYNGAP1,SYNGAP1-AS1c.2754C>G (p.His918Gln)
c.3012C>G (p.His1004Gln)
c.2970C>G (p.His990Gln)
c.2835C>G (p.His945Gln)
c.2967C>G (p.His989Gln)
n.329+3042G>C
 dbSNP gnomAD v3 gnomAD v4
6g.33443564C>TCA450104169SYNGAP1,SYNGAP1-AS1c.2754C>T (p.His918=)
c.3012C>T (p.His1004=)
c.2970C>T (p.His990=)
c.2835C>T (p.His945=)
c.2967C>T (p.His989=)
n.329+3042G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443564_33443572delCA2678276479SYNGAP1,SYNGAP1-AS1c.2754_2762del (p.Ser919_Ser921del)
c.3012_3020del (p.Ser1005_Ser1007del)
c.2970_2978del (p.Ser991_Ser993del)
c.2835_2843del (p.Ser946_Ser948del)
c.2967_2975del (p.Ser990_Ser992del)
n.329+3034_329+3042del
 gnomAD v4
6g.33443564_33443565insCGCA2770567206SYNGAP1,SYNGAP1-AS1c.2754_2755insCG (p.Ser919ArgfsTer?)
c.3012_3013insCG (p.Ser1005ArgfsTer?)
c.2970_2971insCG (p.Ser991ArgfsTer?)
c.2835_2836insCG (p.Ser946ArgfsTer?)
c.2967_2968insCG (p.Ser990ArgfsTer?)
n.329+3041_329+3042insCG
6g.33443565A>CCA363630398SYNGAP1,SYNGAP1-AS1c.2755A>C (p.Ser919Arg)
c.3013A>C (p.Ser1005Arg)
c.2971A>C (p.Ser991Arg)
c.2836A>C (p.Ser946Arg)
c.2968A>C (p.Ser990Arg)
n.329+3041T>G
6g.33443565A>GCA363630394SYNGAP1,SYNGAP1-AS1c.2755A>G (p.Ser919Gly)
c.3013A>G (p.Ser1005Gly)
c.2971A>G (p.Ser991Gly)
c.2836A>G (p.Ser946Gly)
c.2968A>G (p.Ser990Gly)
n.329+3041T>C
 gnomAD v4
6g.33443565A>TCA363630390SYNGAP1,SYNGAP1-AS1c.2755A>T (p.Ser919Cys)
c.3013A>T (p.Ser1005Cys)
c.2971A>T (p.Ser991Cys)
c.2836A>T (p.Ser946Cys)
c.2968A>T (p.Ser990Cys)
n.329+3041T>A
6g.33443566G>ACA363630405SYNGAP1,SYNGAP1-AS1c.2756G>A (p.Ser919Asn)
c.3014G>A (p.Ser1005Asn)
c.2972G>A (p.Ser991Asn)
c.2837G>A (p.Ser946Asn)
c.2969G>A (p.Ser990Asn)
n.329+3040C>T
 dbSNP gnomAD v4
6g.33443566G>CCA363630407SYNGAP1,SYNGAP1-AS1c.2756G>C (p.Ser919Thr)
c.3014G>C (p.Ser1005Thr)
c.2972G>C (p.Ser991Thr)
c.2837G>C (p.Ser946Thr)
c.2969G>C (p.Ser990Thr)
n.329+3040C>G
6g.33443566G>TCA363630409SYNGAP1,SYNGAP1-AS1c.2756G>T (p.Ser919Ile)
c.3014G>T (p.Ser1005Ile)
c.2972G>T (p.Ser991Ile)
c.2837G>T (p.Ser946Ile)
c.2969G>T (p.Ser990Ile)
n.329+3040C>A
6g.33443566_33443567insATCA2770567209SYNGAP1,SYNGAP1-AS1c.2756_2757insAT (p.Ser919ArgfsTer?)
c.3014_3015insAT (p.Ser1005ArgfsTer?)
c.2972_2973insAT (p.Ser991ArgfsTer?)
c.2837_2838insAT (p.Ser946ArgfsTer?)
c.2969_2970insAT (p.Ser990ArgfsTer?)
n.329+3039_329+3040insAT
6g.33443567C>ACA363630413SYNGAP1,SYNGAP1-AS1c.2757C>A (p.Ser919Arg)
c.3015C>A (p.Ser1005Arg)
c.2973C>A (p.Ser991Arg)
c.2838C>A (p.Ser946Arg)
c.2970C>A (p.Ser990Arg)
n.329+3039G>T
6g.33443567C>GCA363630417SYNGAP1,SYNGAP1-AS1c.2757C>G (p.Ser919Arg)
c.3015C>G (p.Ser1005Arg)
c.2973C>G (p.Ser991Arg)
c.2838C>G (p.Ser946Arg)
c.2970C>G (p.Ser990Arg)
n.329+3039G>C
 gnomAD v4
6g.33443567C>TCA450104171SYNGAP1,SYNGAP1-AS1c.2757C>T (p.Ser919=)
c.3015C>T (p.Ser1005=)
c.2973C>T (p.Ser991=)
c.2838C>T (p.Ser946=)
c.2970C>T (p.Ser990=)
n.329+3039G>A
6g.33443568T>ACA363630418SYNGAP1,SYNGAP1-AS1c.2758T>A (p.Tyr920Asn)
c.3016T>A (p.Tyr1006Asn)
c.2974T>A (p.Tyr992Asn)
c.2839T>A (p.Tyr947Asn)
c.2971T>A (p.Tyr991Asn)
n.329+3038A>T
6g.33443568T>CCA363630419SYNGAP1,SYNGAP1-AS1c.2758T>C (p.Tyr920His)
c.3016T>C (p.Tyr1006His)
c.2974T>C (p.Tyr992His)
c.2839T>C (p.Tyr947His)
c.2971T>C (p.Tyr991His)
n.329+3038A>G
6g.33443568T>GCA363630420SYNGAP1,SYNGAP1-AS1c.2758T>G (p.Tyr920Asp)
c.3016T>G (p.Tyr1006Asp)
c.2974T>G (p.Tyr992Asp)
c.2839T>G (p.Tyr947Asp)
c.2971T>G (p.Tyr991Asp)
n.329+3038A>C
 gnomAD v4
6g.33443569A>CCA363630423SYNGAP1,SYNGAP1-AS1c.2759A>C (p.Tyr920Ser)
c.3017A>C (p.Tyr1006Ser)
c.2975A>C (p.Tyr992Ser)
c.2840A>C (p.Tyr947Ser)
c.2972A>C (p.Tyr991Ser)
n.329+3037T>G
6g.33443569A>GCA363630425SYNGAP1,SYNGAP1-AS1c.2759A>G (p.Tyr920Cys)
c.3017A>G (p.Tyr1006Cys)
c.2975A>G (p.Tyr992Cys)
c.2840A>G (p.Tyr947Cys)
c.2972A>G (p.Tyr991Cys)
n.329+3037T>C
6g.33443569A>TCA363630428SYNGAP1,SYNGAP1-AS1c.2759A>T (p.Tyr920Phe)
c.3017A>T (p.Tyr1006Phe)
c.2975A>T (p.Tyr992Phe)
c.2840A>T (p.Tyr947Phe)
c.2972A>T (p.Tyr991Phe)
n.329+3037T>A
6g.33443570C>ACA363630433SYNGAP1,SYNGAP1-AS1c.2760C>A (p.Tyr920Ter)
c.3018C>A (p.Tyr1006Ter)
c.2976C>A (p.Tyr992Ter)
c.2841C>A (p.Tyr947Ter)
c.2973C>A (p.Tyr991Ter)
n.329+3036G>T
6g.33443570C=CA1620014685SYNGAP1,SYNGAP1-AS1c.2760C= (p.Tyr920=)
c.3018C= (p.Tyr1006=)
c.2976C= (p.Tyr992=)
c.2841C= (p.Tyr947=)
c.2973C= (p.Tyr991=)
n.329+3036G=
6g.33443570C>GCA363630438SYNGAP1,SYNGAP1-AS1c.2760C>G (p.Tyr920Ter)
c.3018C>G (p.Tyr1006Ter)
c.2976C>G (p.Tyr992Ter)
c.2841C>G (p.Tyr947Ter)
c.2973C>G (p.Tyr991Ter)
n.329+3036G>C
6g.33443570C>TCA450104173SYNGAP1,SYNGAP1-AS1c.2760C>T (p.Tyr920=)
c.3018C>T (p.Tyr1006=)
c.2976C>T (p.Tyr992=)
c.2841C>T (p.Tyr947=)
c.2973C>T (p.Tyr991=)
n.329+3036G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443570dupCA2678276490SYNGAP1,SYNGAP1-AS1c.2760dup (p.Ser921GlnfsTer2)
c.3018dup (p.Ser1007GlnfsTer2)
c.2976dup (p.Ser993GlnfsTer2)
c.2841dup (p.Ser948GlnfsTer2)
c.2973dup (p.Ser992GlnfsTer2)
n.329+3036dup
 gnomAD v4
6g.33443570_33443574delCA2678276492SYNGAP1,SYNGAP1-AS1c.2760_2764del (p.Tyr920Ter)
c.3018_3022del (p.Tyr1006Ter)
c.2976_2980del (p.Tyr992Ter)
c.2841_2845del (p.Tyr947Ter)
c.2973_2977del (p.Tyr991Ter)
n.329+3032_329+3036del
 gnomAD v4
6g.33443571A>CCA363630444SYNGAP1,SYNGAP1-AS1c.2761A>C (p.Ser921Arg)
c.3019A>C (p.Ser1007Arg)
c.2977A>C (p.Ser993Arg)
c.2842A>C (p.Ser948Arg)
c.2974A>C (p.Ser992Arg)
n.329+3035T>G
6g.33443571A>GCA363630451SYNGAP1,SYNGAP1-AS1c.2761A>G (p.Ser921Gly)
c.3019A>G (p.Ser1007Gly)
c.2977A>G (p.Ser993Gly)
c.2842A>G (p.Ser948Gly)
c.2974A>G (p.Ser992Gly)
n.329+3035T>C
6g.33443571A>TCA363630440SYNGAP1,SYNGAP1-AS1c.2761A>T (p.Ser921Cys)
c.3019A>T (p.Ser1007Cys)
c.2977A>T (p.Ser993Cys)
c.2842A>T (p.Ser948Cys)
c.2974A>T (p.Ser992Cys)
n.329+3035T>A
6g.33443572G>ACA363630458SYNGAP1,SYNGAP1-AS1c.2762G>A (p.Ser921Asn)
c.3020G>A (p.Ser1007Asn)
c.2978G>A (p.Ser993Asn)
c.2843G>A (p.Ser948Asn)
c.2975G>A (p.Ser992Asn)
n.329+3034C>T
 ClinVar
6g.33443572G>CCA363630467SYNGAP1,SYNGAP1-AS1c.2762G>C (p.Ser921Thr)
c.3020G>C (p.Ser1007Thr)
c.2978G>C (p.Ser993Thr)
c.2843G>C (p.Ser948Thr)
c.2975G>C (p.Ser992Thr)
n.329+3034C>G
 gnomAD v4
6g.33443572G>TCA363630485SYNGAP1,SYNGAP1-AS1c.2762G>T (p.Ser921Ile)
c.3020G>T (p.Ser1007Ile)
c.2978G>T (p.Ser993Ile)
c.2843G>T (p.Ser948Ile)
c.2975G>T (p.Ser992Ile)
n.329+3034C>A
6g.33443573_33443574delCA2770567214SYNGAP1,SYNGAP1-AS1c.2763_2764del (p.Ser921ArgfsTer2)
c.3021_3022del (p.Ser1007ArgfsTer2)
c.2979_2980del (p.Ser993ArgfsTer2)
c.2844_2845del (p.Ser948ArgfsTer2)
c.2976_2977del (p.Ser992ArgfsTer2)
n.329+3033_329+3034del
6g.33443573T>ACA363630486SYNGAP1,SYNGAP1-AS1c.2763T>A (p.Ser921Arg)
c.3021T>A (p.Ser1007Arg)
c.2979T>A (p.Ser993Arg)
c.2844T>A (p.Ser948Arg)
c.2976T>A (p.Ser992Arg)
n.329+3033A>T
6g.33443573T>CCA450104175SYNGAP1,SYNGAP1-AS1c.2763T>C (p.Ser921=)
c.3021T>C (p.Ser1007=)
c.2979T>C (p.Ser993=)
c.2844T>C (p.Ser948=)
c.2976T>C (p.Ser992=)
n.329+3033A>G
 gnomAD v4
6g.33443573T>GCA363630487SYNGAP1,SYNGAP1-AS1c.2763T>G (p.Ser921Arg)
c.3021T>G (p.Ser1007Arg)
c.2979T>G (p.Ser993Arg)
c.2844T>G (p.Ser948Arg)
c.2976T>G (p.Ser992Arg)
n.329+3033A>C
6g.33443574G>ACA363630490SYNGAP1,SYNGAP1-AS1c.2764G>A (p.Asp922Asn)
c.3022G>A (p.Asp1008Asn)
c.2980G>A (p.Asp994Asn)
c.2845G>A (p.Asp949Asn)
c.2977G>A (p.Asp993Asn)
n.329+3032C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443574G>CCA363630491SYNGAP1,SYNGAP1-AS1c.2764G>C (p.Asp922His)
c.3022G>C (p.Asp1008His)
c.2980G>C (p.Asp994His)
c.2845G>C (p.Asp949His)
c.2977G>C (p.Asp993His)
n.329+3032C>G
 gnomAD v4
6g.33443574G=CA1620014686SYNGAP1,SYNGAP1-AS1c.2764G= (p.Asp922=)
c.3022G= (p.Asp1008=)
c.2980G= (p.Asp994=)
c.2845G= (p.Asp949=)
c.2977G= (p.Asp993=)
n.329+3032C=
6g.33443574G>TCA363630498SYNGAP1,SYNGAP1-AS1c.2764G>T (p.Asp922Tyr)
c.3022G>T (p.Asp1008Tyr)
c.2980G>T (p.Asp994Tyr)
c.2845G>T (p.Asp949Tyr)
c.2977G>T (p.Asp993Tyr)
n.329+3032C>A
6g.33443575A=CA1620014687SYNGAP1,SYNGAP1-AS1c.2765A= (p.Asp922=)
c.3023A= (p.Asp1008=)
c.2981A= (p.Asp994=)
c.2846A= (p.Asp949=)
c.2978A= (p.Asp993=)
n.329+3031T=
6g.33443575A>CCA363630501SYNGAP1,SYNGAP1-AS1c.2765A>C (p.Asp922Ala)
c.3023A>C (p.Asp1008Ala)
c.2981A>C (p.Asp994Ala)
c.2846A>C (p.Asp949Ala)
c.2978A>C (p.Asp993Ala)
n.329+3031T>G
6g.33443575A>GCA363630509SYNGAP1,SYNGAP1-AS1c.2765A>G (p.Asp922Gly)
c.3023A>G (p.Asp1008Gly)
c.2981A>G (p.Asp994Gly)
c.2846A>G (p.Asp949Gly)
c.2978A>G (p.Asp993Gly)
n.329+3031T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443575A>TCA363630510SYNGAP1,SYNGAP1-AS1c.2765A>T (p.Asp922Val)
c.3023A>T (p.Asp1008Val)
c.2981A>T (p.Asp994Val)
c.2846A>T (p.Asp949Val)
c.2978A>T (p.Asp993Val)
n.329+3031T>A
6g.33443576delCA2678276507SYNGAP1,SYNGAP1-AS1c.2766del (p.Asp922GlufsTer?)
c.3024del (p.Asp1008GlufsTer?)
c.2982del (p.Asp994GlufsTer?)
c.2847del (p.Asp949GlufsTer?)
c.2979del (p.Asp993GlufsTer?)
n.329+3030del
 gnomAD v4
6g.33443576T>ACA363630514SYNGAP1,SYNGAP1-AS1c.2766T>A (p.Asp922Glu)
c.3024T>A (p.Asp1008Glu)
c.2982T>A (p.Asp994Glu)
c.2847T>A (p.Asp949Glu)
c.2979T>A (p.Asp993Glu)
n.329+3030A>T
 gnomAD v4
6g.33443576T>CCA450104177SYNGAP1,SYNGAP1-AS1c.2766T>C (p.Asp922=)
c.3024T>C (p.Asp1008=)
c.2982T>C (p.Asp994=)
c.2847T>C (p.Asp949=)
c.2979T>C (p.Asp993=)
n.329+3030A>G
 gnomAD v4
6g.33443576T>GCA363630516SYNGAP1,SYNGAP1-AS1c.2766T>G (p.Asp922Glu)
c.3024T>G (p.Asp1008Glu)
c.2982T>G (p.Asp994Glu)
c.2847T>G (p.Asp949Glu)
c.2979T>G (p.Asp993Glu)
n.329+3030A>C
 gnomAD v4
6g.33443577G>ACA363630522SYNGAP1,SYNGAP1-AS1c.2767G>A (p.Glu923Lys)
c.3025G>A (p.Glu1009Lys)
c.2983G>A (p.Glu995Lys)
c.2848G>A (p.Glu950Lys)
c.2980G>A (p.Glu994Lys)
n.329+3029C>T
6g.33443577G>CCA363630519SYNGAP1,SYNGAP1-AS1c.2767G>C (p.Glu923Gln)
c.3025G>C (p.Glu1009Gln)
c.2983G>C (p.Glu995Gln)
c.2848G>C (p.Glu950Gln)
c.2980G>C (p.Glu994Gln)
n.329+3029C>G
 gnomAD v4
6g.33443577G=CA1620014688SYNGAP1,SYNGAP1-AS1c.2767G= (p.Glu923=)
c.3025G= (p.Glu1009=)
c.2983G= (p.Glu995=)
c.2848G= (p.Glu950=)
c.2980G= (p.Glu994=)
n.329+3029C=
6g.33443577G>TCA363630517SYNGAP1,SYNGAP1-AS1c.2767G>T (p.Glu923Ter)
c.3025G>T (p.Glu1009Ter)
c.2983G>T (p.Glu995Ter)
c.2848G>T (p.Glu950Ter)
c.2980G>T (p.Glu994Ter)
n.329+3029C>A
 ClinVar dbSNP
6g.33443577_33443584delCA2678276512SYNGAP1,SYNGAP1-AS1c.2767_2774del (p.Glu923ThrfsTer5)
c.3025_3032del (p.Glu1009ThrfsTer5)
c.2983_2990del (p.Glu995ThrfsTer5)
c.2848_2855del (p.Glu950ThrfsTer5)
c.2980_2987del (p.Glu994ThrfsTer5)
n.329+3022_329+3029del
 gnomAD v4
6g.33443578A>CCA363630525SYNGAP1,SYNGAP1-AS1c.2768A>C (p.Glu923Ala)
c.3026A>C (p.Glu1009Ala)
c.2984A>C (p.Glu995Ala)
c.2849A>C (p.Glu950Ala)
c.2981A>C (p.Glu994Ala)
n.329+3028T>G
 ClinVar
6g.33443578A>GCA363630543SYNGAP1,SYNGAP1-AS1c.2768A>G (p.Glu923Gly)
c.3026A>G (p.Glu1009Gly)
c.2984A>G (p.Glu995Gly)
c.2849A>G (p.Glu950Gly)
c.2981A>G (p.Glu994Gly)
n.329+3028T>C
6g.33443578A>TCA363630545SYNGAP1,SYNGAP1-AS1c.2768A>T (p.Glu923Val)
c.3026A>T (p.Glu1009Val)
c.2984A>T (p.Glu995Val)
c.2849A>T (p.Glu950Val)
c.2981A>T (p.Glu994Val)
n.329+3028T>A
6g.33443579delCA2678276522SYNGAP1,SYNGAP1-AS1c.2769del (p.Glu923AspfsTer?)
c.3027del (p.Glu1009AspfsTer?)
c.2985del (p.Glu995AspfsTer?)
c.2850del (p.Glu950AspfsTer?)
c.2982del (p.Glu994AspfsTer?)
n.329+3027del
 gnomAD v4
6g.33443579G>ACA450104179SYNGAP1,SYNGAP1-AS1c.2769G>A (p.Glu923=)
c.3027G>A (p.Glu1009=)
c.2985G>A (p.Glu995=)
c.2850G>A (p.Glu950=)
c.2982G>A (p.Glu994=)
n.329+3027C>T
 dbSNP gnomAD v3
6g.33443579G>CCA363630548SYNGAP1,SYNGAP1-AS1c.2769G>C (p.Glu923Asp)
c.3027G>C (p.Glu1009Asp)
c.2985G>C (p.Glu995Asp)
c.2850G>C (p.Glu950Asp)
c.2982G>C (p.Glu994Asp)
n.329+3027C>G
 dbSNP gnomAD v4
6g.33443579G=CA1620014689SYNGAP1,SYNGAP1-AS1c.2769G= (p.Glu923=)
c.3027G= (p.Glu1009=)
c.2985G= (p.Glu995=)
c.2850G= (p.Glu950=)
c.2982G= (p.Glu994=)
n.329+3027C=
6g.33443579G>TCA363630551SYNGAP1,SYNGAP1-AS1c.2769G>T (p.Glu923Asp)
c.3027G>T (p.Glu1009Asp)
c.2985G>T (p.Glu995Asp)
c.2850G>T (p.Glu950Asp)
c.2982G>T (p.Glu994Asp)
n.329+3027C>A
6g.33443579_33443581delCA2678276523SYNGAP1,SYNGAP1-AS1c.2769_2771del (p.Glu923_Phe924delinsAsp)
c.3027_3029del (p.Glu1009_Phe1010delinsAsp)
c.2985_2987del (p.Glu995_Phe996delinsAsp)
c.2850_2852del (p.Glu950_Phe951delinsAsp)
c.2982_2984del (p.Glu994_Phe995delinsAsp)
n.329+3025_329+3027del
 gnomAD v4
6g.33443579_33443588delCA2678276525SYNGAP1,SYNGAP1-AS1c.2769_2778del (p.Glu923AspfsTer?)
c.3027_3036del (p.Glu1009AspfsTer?)
c.2985_2994del (p.Glu995AspfsTer?)
c.2850_2859del (p.Glu950AspfsTer?)
c.2982_2991del (p.Glu994AspfsTer?)
n.329+3018_329+3027del
 gnomAD v4
6g.33443580T>ACA363630557SYNGAP1,SYNGAP1-AS1c.2770T>A (p.Phe924Ile)
c.3028T>A (p.Phe1010Ile)
c.2986T>A (p.Phe996Ile)
c.2851T>A (p.Phe951Ile)
c.2983T>A (p.Phe995Ile)
n.329+3026A>T
6g.33443580T>CCA363630561SYNGAP1,SYNGAP1-AS1c.2770T>C (p.Phe924Leu)
c.3028T>C (p.Phe1010Leu)
c.2986T>C (p.Phe996Leu)
c.2851T>C (p.Phe951Leu)
c.2983T>C (p.Phe995Leu)
n.329+3026A>G
6g.33443580T>GCA363630562SYNGAP1,SYNGAP1-AS1c.2770T>G (p.Phe924Val)
c.3028T>G (p.Phe1010Val)
c.2986T>G (p.Phe996Val)
c.2851T>G (p.Phe951Val)
c.2983T>G (p.Phe995Val)
n.329+3026A>C
6g.33443581T>ACA363630566SYNGAP1,SYNGAP1-AS1c.2771T>A (p.Phe924Tyr)
c.3029T>A (p.Phe1010Tyr)
c.2987T>A (p.Phe996Tyr)
c.2852T>A (p.Phe951Tyr)
c.2984T>A (p.Phe995Tyr)
n.329+3025A>T
6g.33443581T>CCA363630570SYNGAP1,SYNGAP1-AS1c.2771T>C (p.Phe924Ser)
c.3029T>C (p.Phe1010Ser)
c.2987T>C (p.Phe996Ser)
c.2852T>C (p.Phe951Ser)
c.2984T>C (p.Phe995Ser)
n.329+3025A>G
 gnomAD v4
6g.33443581T>GCA363630573SYNGAP1,SYNGAP1-AS1c.2771T>G (p.Phe924Cys)
c.3029T>G (p.Phe1010Cys)
c.2987T>G (p.Phe996Cys)
c.2852T>G (p.Phe951Cys)
c.2984T>G (p.Phe995Cys)
n.329+3025A>C
6g.33443581_33443582insACA2770567221SYNGAP1,SYNGAP1-AS1c.2771_2772insA (p.Phe924LeufsTer7)
c.3029_3030insA (p.Phe1010LeufsTer7)
c.2987_2988insA (p.Phe996LeufsTer7)
c.2852_2853insA (p.Phe951LeufsTer7)
c.2984_2985insA (p.Phe995LeufsTer7)
n.329+3024_329+3025insT
6g.33443582T>ACA363630578SYNGAP1,SYNGAP1-AS1c.2772T>A (p.Phe924Leu)
c.3030T>A (p.Phe1010Leu)
c.2988T>A (p.Phe996Leu)
c.2853T>A (p.Phe951Leu)
c.2985T>A (p.Phe995Leu)
n.329+3024A>T
6g.33443582T>CCA3758973SYNGAP1,SYNGAP1-AS1c.2772T>C (p.Phe924=)
c.3030T>C (p.Phe1010=)
c.2988T>C (p.Phe996=)
c.2853T>C (p.Phe951=)
c.2985T>C (p.Phe995=)
n.329+3024A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443582T>GCA363630589SYNGAP1,SYNGAP1-AS1c.2772T>G (p.Phe924Leu)
c.3030T>G (p.Phe1010Leu)
c.2988T>G (p.Phe996Leu)
c.2853T>G (p.Phe951Leu)
c.2985T>G (p.Phe995Leu)
n.329+3024A>C
6g.33443582T=CA1620014690SYNGAP1,SYNGAP1-AS1c.2772T= (p.Phe924=)
c.3030T= (p.Phe1010=)
c.2988T= (p.Phe996=)
c.2853T= (p.Phe951=)
c.2985T= (p.Phe995=)
n.329+3024A=
6g.33443582_33443583insACCA2678276544SYNGAP1,SYNGAP1-AS1c.2772_2773insAC (p.Gly925ThrfsTer?)
c.3030_3031insAC (p.Gly1011ThrfsTer?)
c.2988_2989insAC (p.Gly997ThrfsTer?)
c.2853_2854insAC (p.Gly952ThrfsTer?)
c.2985_2986insAC (p.Gly996ThrfsTer?)
n.329+3023_329+3024insGT
 gnomAD v4
6g.33443583G>ACA363630597SYNGAP1,SYNGAP1-AS1c.2773G>A (p.Gly925Arg)
c.3031G>A (p.Gly1011Arg)
c.2989G>A (p.Gly997Arg)
c.2854G>A (p.Gly952Arg)
c.2986G>A (p.Gly996Arg)
n.329+3023C>T
 gnomAD v4
6g.33443583G>CCA363630600SYNGAP1,SYNGAP1-AS1c.2773G>C (p.Gly925Arg)
c.3031G>C (p.Gly1011Arg)
c.2989G>C (p.Gly997Arg)
c.2854G>C (p.Gly952Arg)
c.2986G>C (p.Gly996Arg)
n.329+3023C>G
6g.33443583G=CA1620014691SYNGAP1,SYNGAP1-AS1c.2773G= (p.Gly925=)
c.3031G= (p.Gly1011=)
c.2989G= (p.Gly997=)
c.2854G= (p.Gly952=)
c.2986G= (p.Gly996=)
n.329+3023C=
6g.33443583G>TCA363630596SYNGAP1,SYNGAP1-AS1c.2773G>T (p.Gly925Ter)
c.3031G>T (p.Gly1011Ter)
c.2989G>T (p.Gly997Ter)
c.2854G>T (p.Gly952Ter)
c.2986G>T (p.Gly996Ter)
n.329+3023C>A
 dbSNP
6g.33443583_33443584delCA2678276542SYNGAP1,SYNGAP1-AS1c.2773_2774del (p.Gly925ThrfsTer5)
c.3031_3032del (p.Gly1011ThrfsTer5)
c.2989_2990del (p.Gly997ThrfsTer5)
c.2854_2855del (p.Gly952ThrfsTer5)
c.2986_2987del (p.Gly996ThrfsTer5)
n.329+3022_329+3023del
 gnomAD v4
6g.33443583_33443606delCA2770567222SYNGAP1,SYNGAP1-AS1c.2773_2796del (p.Gly925_Thr932del)
c.3031_3054del (p.Gly1011_Thr1018del)
c.2989_3012del (p.Gly997_Thr1004del)
c.2854_2877del (p.Gly952_Thr959del)
c.2986_3009del (p.Gly996_Thr1003del)
n.329+3000_329+3023del
6g.33443584G>ACA363630604SYNGAP1,SYNGAP1-AS1c.2774G>A (p.Gly925Glu)
c.3032G>A (p.Gly1011Glu)
c.2990G>A (p.Gly997Glu)
c.2855G>A (p.Gly952Glu)
c.2987G>A (p.Gly996Glu)
n.329+3022C>T
6g.33443584G>CCA363630608SYNGAP1,SYNGAP1-AS1c.2774G>C (p.Gly925Ala)
c.3032G>C (p.Gly1011Ala)
c.2990G>C (p.Gly997Ala)
c.2855G>C (p.Gly952Ala)
c.2987G>C (p.Gly996Ala)
n.329+3022C>G
 gnomAD v4
6g.33443584G>TCA363630609SYNGAP1,SYNGAP1-AS1c.2774G>T (p.Gly925Val)
c.3032G>T (p.Gly1011Val)
c.2990G>T (p.Gly997Val)
c.2855G>T (p.Gly952Val)
c.2987G>T (p.Gly996Val)
n.329+3022C>A
6g.33443584_33443585insCGCA2678276545SYNGAP1,SYNGAP1-AS1c.2774_2775insCG (p.Pro926AspfsTer?)
c.3032_3033insCG (p.Pro1012AspfsTer?)
c.2990_2991insCG (p.Pro998AspfsTer?)
c.2855_2856insCG (p.Pro953AspfsTer?)
c.2987_2988insCG (p.Pro997AspfsTer?)
n.329+3022_329+3023insGC
 gnomAD v4
6g.33443585A>CCA450104186SYNGAP1,SYNGAP1-AS1c.2775A>C (p.Gly925=)
c.3033A>C (p.Gly1011=)
c.2991A>C (p.Gly997=)
c.2856A>C (p.Gly952=)
c.2988A>C (p.Gly996=)
n.329+3021T>G
6g.33443585A>GCA450104187SYNGAP1,SYNGAP1-AS1c.2775A>G (p.Gly925=)
c.3033A>G (p.Gly1011=)
c.2991A>G (p.Gly997=)
c.2856A>G (p.Gly952=)
c.2988A>G (p.Gly996=)
n.329+3021T>C
6g.33443585A>TCA450104188SYNGAP1,SYNGAP1-AS1c.2775A>T (p.Gly925=)
c.3033A>T (p.Gly1011=)
c.2991A>T (p.Gly997=)
c.2856A>T (p.Gly952=)
c.2988A>T (p.Gly996=)
n.329+3021T>A
6g.33443585_33443586delinsACCA1620014692SYNGAP1,SYNGAP1-AS1c.2775_2776delinsAC (p.Gly925=)
c.3033_3034delinsAC (p.Gly1011=)
c.2991_2992delinsAC (p.Gly997=)
c.2856_2857delinsAC (p.Gly952=)
c.2988_2989delinsAC (p.Gly996=)
n.329+3020_329+3021delinsGT
6g.33443586C>ACA363630610SYNGAP1,SYNGAP1-AS1c.2776C>A (p.Pro926Thr)
c.3034C>A (p.Pro1012Thr)
c.2992C>A (p.Pro998Thr)
c.2857C>A (p.Pro953Thr)
c.2989C>A (p.Pro997Thr)
n.329+3020G>T
6g.33443586C>GCA363630611SYNGAP1,SYNGAP1-AS1c.2776C>G (p.Pro926Ala)
c.3034C>G (p.Pro1012Ala)
c.2992C>G (p.Pro998Ala)
c.2857C>G (p.Pro953Ala)
c.2989C>G (p.Pro997Ala)
n.329+3020G>C
6g.33443586C>TCA363630612SYNGAP1,SYNGAP1-AS1c.2776C>T (p.Pro926Ser)
c.3034C>T (p.Pro1012Ser)
c.2992C>T (p.Pro998Ser)
c.2857C>T (p.Pro953Ser)
c.2989C>T (p.Pro997Ser)
n.329+3020G>A
 gnomAD v4
6g.33443588delCA658796746SYNGAP1,SYNGAP1-AS1c.2778del (p.Ser927LeufsTer?)
c.3036del (p.Ser1013LeufsTer?)
c.2994del (p.Ser999LeufsTer?)
c.2859del (p.Ser954LeufsTer?)
c.2991del (p.Ser998LeufsTer?)
n.329+3020del
 ClinVar dbSNP
6g.33443587C>ACA363630613SYNGAP1,SYNGAP1-AS1c.2777C>A (p.Pro926His)
c.3035C>A (p.Pro1012His)
c.2993C>A (p.Pro998His)
c.2858C>A (p.Pro953His)
c.2990C>A (p.Pro997His)
n.329+3019G>T
6g.33443587C>GCA363630617SYNGAP1,SYNGAP1-AS1c.2777C>G (p.Pro926Arg)
c.3035C>G (p.Pro1012Arg)
c.2993C>G (p.Pro998Arg)
c.2858C>G (p.Pro953Arg)
c.2990C>G (p.Pro997Arg)
n.329+3019G>C
6g.33443587C>TCA363630621SYNGAP1,SYNGAP1-AS1c.2777C>T (p.Pro926Leu)
c.3035C>T (p.Pro1012Leu)
c.2993C>T (p.Pro998Leu)
c.2858C>T (p.Pro953Leu)
c.2990C>T (p.Pro997Leu)
n.329+3019G>A
6g.33443587_33443591delCA2678276552SYNGAP1,SYNGAP1-AS1c.2777_2781del (p.Pro926ArgfsTer3)
c.3035_3039del (p.Pro1012ArgfsTer3)
c.2993_2997del (p.Pro998ArgfsTer3)
c.2858_2862del (p.Pro953ArgfsTer3)
c.2990_2994del (p.Pro997ArgfsTer3)
n.329+3015_329+3019del
 gnomAD v4
6g.33443587_33443588insACA2678276553SYNGAP1,SYNGAP1-AS1c.2777_2778insA (p.Ser927LeufsTer4)
c.3035_3036insA (p.Ser1013LeufsTer4)
c.2993_2994insA (p.Ser999LeufsTer4)
c.2858_2859insA (p.Ser954LeufsTer4)
c.2990_2991insA (p.Ser998LeufsTer4)
n.329+3018_329+3019insT
 gnomAD v4
6g.33443587_33443588insAGCA2770567223SYNGAP1,SYNGAP1-AS1c.2777_2778insAG (p.Ser927AlafsTer?)
c.3035_3036insAG (p.Ser1013AlafsTer?)
c.2993_2994insAG (p.Ser999AlafsTer?)
c.2858_2859insAG (p.Ser954AlafsTer?)
c.2990_2991insAG (p.Ser998AlafsTer?)
n.329+3018_329+3019insCT
6g.33443588C>ACA450104191SYNGAP1,SYNGAP1-AS1c.2778C>A (p.Pro926=)
c.3036C>A (p.Pro1012=)
c.2994C>A (p.Pro998=)
c.2859C>A (p.Pro953=)
c.2991C>A (p.Pro997=)
n.329+3018G>T
6g.33443588C=CA1620014693SYNGAP1,SYNGAP1-AS1c.2778C= (p.Pro926=)
c.3036C= (p.Pro1012=)
c.2994C= (p.Pro998=)
c.2859C= (p.Pro953=)
c.2991C= (p.Pro997=)
n.329+3018G=
6g.33443588C>GCA137073261SYNGAP1,SYNGAP1-AS1c.2778C>G (p.Pro926=)
c.3036C>G (p.Pro1012=)
c.2994C>G (p.Pro998=)
c.2859C>G (p.Pro953=)
c.2991C>G (p.Pro997=)
n.329+3018G>C
 dbSNP
6g.33443588C>TCA450104192SYNGAP1,SYNGAP1-AS1c.2778C>T (p.Pro926=)
c.3036C>T (p.Pro1012=)
c.2994C>T (p.Pro998=)
c.2859C>T (p.Pro953=)
c.2991C>T (p.Pro997=)
n.329+3018G>A
 gnomAD v4
6g.33443588_33443589insCGAGACA2678276560SYNGAP1,SYNGAP1-AS1c.2778_2779insCGAGA (p.Ser927ArgfsTer?)
c.3036_3037insCGAGA (p.Ser1013ArgfsTer?)
c.2994_2995insCGAGA (p.Ser999ArgfsTer?)
c.2859_2860insCGAGA (p.Ser954ArgfsTer?)
c.2991_2992insCGAGA (p.Ser998ArgfsTer?)
n.329+3017_329+3018insTCTCG
 gnomAD v4
6g.33443589T>ACA363630624SYNGAP1,SYNGAP1-AS1c.2779T>A (p.Ser927Thr)
c.3037T>A (p.Ser1013Thr)
c.2995T>A (p.Ser999Thr)
c.2860T>A (p.Ser954Thr)
c.2992T>A (p.Ser998Thr)
n.329+3017A>T
6g.33443589T>CCA3758974SYNGAP1,SYNGAP1-AS1c.2779T>C (p.Ser927Pro)
c.3037T>C (p.Ser1013Pro)
c.2995T>C (p.Ser999Pro)
c.2860T>C (p.Ser954Pro)
c.2992T>C (p.Ser998Pro)
n.329+3017A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443589T>GCA363630629SYNGAP1,SYNGAP1-AS1c.2779T>G (p.Ser927Ala)
c.3037T>G (p.Ser1013Ala)
c.2995T>G (p.Ser999Ala)
c.2860T>G (p.Ser954Ala)
c.2992T>G (p.Ser998Ala)
n.329+3017A>C
6g.33443589T=CA1620014694SYNGAP1,SYNGAP1-AS1c.2779T= (p.Ser927=)
c.3037T= (p.Ser1013=)
c.2995T= (p.Ser999=)
c.2860T= (p.Ser954=)
c.2992T= (p.Ser998=)
n.329+3017A=
6g.33443590C>ACA363630640SYNGAP1,SYNGAP1-AS1c.2780C>A (p.Ser927Tyr)
c.3038C>A (p.Ser1013Tyr)
c.2996C>A (p.Ser999Tyr)
c.2861C>A (p.Ser954Tyr)
c.2993C>A (p.Ser998Tyr)
n.329+3016G>T
6g.33443590C=CA1620014695SYNGAP1,SYNGAP1-AS1c.2780C= (p.Ser927=)
c.3038C= (p.Ser1013=)
c.2996C= (p.Ser999=)
c.2861C= (p.Ser954=)
c.2993C= (p.Ser998=)
n.329+3016G=
6g.33443590C>GCA3758975SYNGAP1,SYNGAP1-AS1c.2780C>G (p.Ser927Cys)
c.3038C>G (p.Ser1013Cys)
c.2996C>G (p.Ser999Cys)
c.2861C>G (p.Ser954Cys)
c.2993C>G (p.Ser998Cys)
n.329+3016G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443590C>TCA363630635SYNGAP1,SYNGAP1-AS1c.2780C>T (p.Ser927Phe)
c.3038C>T (p.Ser1013Phe)
c.2996C>T (p.Ser999Phe)
c.2861C>T (p.Ser954Phe)
c.2993C>T (p.Ser998Phe)
n.329+3016G>A
 gnomAD v4
6g.33443591_33443594delCA2770567224SYNGAP1,SYNGAP1-AS1c.2781_2784del (p.Gly928LeufsTer?)
c.3039_3042del (p.Gly1014LeufsTer?)
c.2997_3000del (p.Gly1000LeufsTer?)
c.2862_2865del (p.Gly955LeufsTer?)
c.2994_2997del (p.Gly999LeufsTer?)
n.329+3013_329+3016del
6g.33443591T>ACA450104196SYNGAP1,SYNGAP1-AS1c.2781T>A (p.Ser927=)
c.3039T>A (p.Ser1013=)
c.2997T>A (p.Ser999=)
c.2862T>A (p.Ser954=)
c.2994T>A (p.Ser998=)
n.329+3015A>T
 gnomAD v4
6g.33443591T>CCA3758976SYNGAP1,SYNGAP1-AS1c.2781T>C (p.Ser927=)
c.3039T>C (p.Ser1013=)
c.2997T>C (p.Ser999=)
c.2862T>C (p.Ser954=)
c.2994T>C (p.Ser998=)
n.329+3015A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443591T>GCA450104197SYNGAP1,SYNGAP1-AS1c.2781T>G (p.Ser927=)
c.3039T>G (p.Ser1013=)
c.2997T>G (p.Ser999=)
c.2862T>G (p.Ser954=)
c.2994T>G (p.Ser998=)
n.329+3015A>C
6g.33443591T=CA1620014696SYNGAP1,SYNGAP1-AS1c.2781T= (p.Ser927=)
c.3039T= (p.Ser1013=)
c.2997T= (p.Ser999=)
c.2862T= (p.Ser954=)
c.2994T= (p.Ser998=)
n.329+3015A=
6g.33443592G>ACA363630643SYNGAP1,SYNGAP1-AS1c.2782G>A (p.Gly928Ser)
c.3040G>A (p.Gly1014Ser)
c.2998G>A (p.Gly1000Ser)
c.2863G>A (p.Gly955Ser)
c.2995G>A (p.Gly999Ser)
n.329+3014C>T
 dbSNP
6g.33443592G>CCA363630647SYNGAP1,SYNGAP1-AS1c.2782G>C (p.Gly928Arg)
c.3040G>C (p.Gly1014Arg)
c.2998G>C (p.Gly1000Arg)
c.2863G>C (p.Gly955Arg)
c.2995G>C (p.Gly999Arg)
n.329+3014C>G
6g.33443592G>TCA363630649SYNGAP1,SYNGAP1-AS1c.2782G>T (p.Gly928Cys)
c.3040G>T (p.Gly1014Cys)
c.2998G>T (p.Gly1000Cys)
c.2863G>T (p.Gly955Cys)
c.2995G>T (p.Gly999Cys)
n.329+3014C>A
6g.33443593delCA2678276573SYNGAP1,SYNGAP1-AS1c.2783del (p.Gly928AlafsTer?)
c.3041del (p.Gly1014AlafsTer?)
c.2999del (p.Gly1000AlafsTer?)
c.2864del (p.Gly955AlafsTer?)
c.2996del (p.Gly999AlafsTer?)
n.329+3014del
 gnomAD v4
6g.33443592_33443594delCA2678276572SYNGAP1,SYNGAP1-AS1c.2782_2784del (p.Gly928del)
c.3040_3042del (p.Gly1014del)
c.2998_3000del (p.Gly1000del)
c.2863_2865del (p.Gly955del)
c.2995_2997del (p.Gly999del)
n.329+3012_329+3014del
 gnomAD v4
6g.33443593G>ACA363630651SYNGAP1,SYNGAP1-AS1c.2783G>A (p.Gly928Asp)
c.3041G>A (p.Gly1014Asp)
c.2999G>A (p.Gly1000Asp)
c.2864G>A (p.Gly955Asp)
c.2996G>A (p.Gly999Asp)
n.329+3013C>T
 gnomAD v4
6g.33443593G>CCA363630653SYNGAP1,SYNGAP1-AS1c.2783G>C (p.Gly928Ala)
c.3041G>C (p.Gly1014Ala)
c.2999G>C (p.Gly1000Ala)
c.2864G>C (p.Gly955Ala)
c.2996G>C (p.Gly999Ala)
n.329+3013C>G
6g.33443593G=CA1620014697SYNGAP1,SYNGAP1-AS1c.2783G= (p.Gly928=)
c.3041G= (p.Gly1014=)
c.2999G= (p.Gly1000=)
c.2864G= (p.Gly955=)
c.2996G= (p.Gly999=)
n.329+3013C=
6g.33443593G>TCA363630658SYNGAP1,SYNGAP1-AS1c.2783G>T (p.Gly928Val)
c.3041G>T (p.Gly1014Val)
c.2999G>T (p.Gly1000Val)
c.2864G>T (p.Gly955Val)
c.2996G>T (p.Gly999Val)
n.329+3013C>A
 ClinVar dbSNP
6g.33443594C>ACA450104201SYNGAP1,SYNGAP1-AS1c.2784C>A (p.Gly928=)
c.3042C>A (p.Gly1014=)
c.3000C>A (p.Gly1000=)
c.2865C>A (p.Gly955=)
c.2997C>A (p.Gly999=)
n.329+3012G>T
6g.33443594C=CA1620014698SYNGAP1,SYNGAP1-AS1c.2784C= (p.Gly928=)
c.3042C= (p.Gly1014=)
c.3000C= (p.Gly1000=)
c.2865C= (p.Gly955=)
c.2997C= (p.Gly999=)
n.329+3012G=
6g.33443594C>GCA450104202SYNGAP1,SYNGAP1-AS1c.2784C>G (p.Gly928=)
c.3042C>G (p.Gly1014=)
c.3000C>G (p.Gly1000=)
c.2865C>G (p.Gly955=)
c.2997C>G (p.Gly999=)
n.329+3012G>C
6g.33443594C>TCA137073282SYNGAP1,SYNGAP1-AS1c.2784C>T (p.Gly928=)
c.3042C>T (p.Gly1014=)
c.3000C>T (p.Gly1000=)
c.2865C>T (p.Gly955=)
c.2997C>T (p.Gly999=)
n.329+3012G>A
 dbSNP gnomAD v4
6g.33443594_33443595insGACCCA2678276581SYNGAP1,SYNGAP1-AS1c.2784_2785insGACC (p.Thr929AspfsTer3)
c.3042_3043insGACC (p.Thr1015AspfsTer3)
c.3000_3001insGACC (p.Thr1001AspfsTer3)
c.2865_2866insGACC (p.Thr956AspfsTer3)
c.2997_2998insGACC (p.Thr1000AspfsTer3)
n.329+3012_329+3013insGTCG
 gnomAD v4
6g.33443595_33443596delCA2678276582SYNGAP1,SYNGAP1-AS1c.2785_2786del (p.Thr929Ter)
c.3043_3044del (p.Thr1015Ter)
c.3001_3002del (p.Thr1001Ter)
c.2866_2867del (p.Thr956Ter)
c.2998_2999del (p.Thr1000Ter)
n.329+3011_329+3012del
 gnomAD v4
6g.33443595A>CCA363630663SYNGAP1,SYNGAP1-AS1c.2785A>C (p.Thr929Pro)
c.3043A>C (p.Thr1015Pro)
c.3001A>C (p.Thr1001Pro)
c.2866A>C (p.Thr956Pro)
c.2998A>C (p.Thr1000Pro)
n.329+3011T>G
6g.33443595A>GCA363630666SYNGAP1,SYNGAP1-AS1c.2785A>G (p.Thr929Ala)
c.3043A>G (p.Thr1015Ala)
c.3001A>G (p.Thr1001Ala)
c.2866A>G (p.Thr956Ala)
c.2998A>G (p.Thr1000Ala)
n.329+3011T>C
6g.33443595A>TCA363630671SYNGAP1,SYNGAP1-AS1c.2785A>T (p.Thr929Ser)
c.3043A>T (p.Thr1015Ser)
c.3001A>T (p.Thr1001Ser)
c.2866A>T (p.Thr956Ser)
c.2998A>T (p.Thr1000Ser)
n.329+3011T>A
6g.33443596C>ACA363630683SYNGAP1,SYNGAP1-AS1c.2786C>A (p.Thr929Asn)
c.3044C>A (p.Thr1015Asn)
c.3002C>A (p.Thr1001Asn)
c.2867C>A (p.Thr956Asn)
c.2999C>A (p.Thr1000Asn)
n.329+3010G>T
6g.33443596C>GCA363630679SYNGAP1,SYNGAP1-AS1c.2786C>G (p.Thr929Ser)
c.3044C>G (p.Thr1015Ser)
c.3002C>G (p.Thr1001Ser)
c.2867C>G (p.Thr956Ser)
c.2999C>G (p.Thr1000Ser)
n.329+3010G>C
6g.33443596C>TCA363630676SYNGAP1,SYNGAP1-AS1c.2786C>T (p.Thr929Ile)
c.3044C>T (p.Thr1015Ile)
c.3002C>T (p.Thr1001Ile)
c.2867C>T (p.Thr956Ile)
c.2999C>T (p.Thr1000Ile)
n.329+3010G>A
6g.33443596_33443598delCA2678276588SYNGAP1,SYNGAP1-AS1c.2786_2788del (p.Thr929_Asp930delinsAsn)
c.3044_3046del (p.Thr1015_Asp1016delinsAsn)
c.3002_3004del (p.Thr1001_Asp1002delinsAsn)
c.2867_2869del (p.Thr956_Asp957delinsAsn)
c.2999_3001del (p.Thr1000_Asp1001delinsAsn)
n.329+3008_329+3010del
 gnomAD v4
6g.33443597delCA2678276597SYNGAP1,SYNGAP1-AS1c.2787del (p.Asp930ThrfsTer?)
c.3045del (p.Asp1016ThrfsTer?)
c.3003del (p.Asp1002ThrfsTer?)
c.2868del (p.Asp957ThrfsTer?)
c.3000del (p.Asp1001ThrfsTer?)
n.329+3009del
 gnomAD v4
6g.33443597T>ACA450104207SYNGAP1,SYNGAP1-AS1c.2787T>A (p.Thr929=)
c.3045T>A (p.Thr1015=)
c.3003T>A (p.Thr1001=)
c.2868T>A (p.Thr956=)
c.3000T>A (p.Thr1000=)
n.329+3009A>T
 gnomAD v4
6g.33443597T>CCA3758977SYNGAP1,SYNGAP1-AS1c.2787T>C (p.Thr929=)
c.3045T>C (p.Thr1015=)
c.3003T>C (p.Thr1001=)
c.2868T>C (p.Thr956=)
c.3000T>C (p.Thr1000=)
n.329+3009A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443597T>GCA450104206SYNGAP1,SYNGAP1-AS1c.2787T>G (p.Thr929=)
c.3045T>G (p.Thr1015=)
c.3003T>G (p.Thr1001=)
c.2868T>G (p.Thr956=)
c.3000T>G (p.Thr1000=)
n.329+3009A>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33443597T=CA1620014699SYNGAP1,SYNGAP1-AS1c.2787T= (p.Thr929=)
c.3045T= (p.Thr1015=)
c.3003T= (p.Thr1001=)
c.2868T= (p.Thr956=)
c.3000T= (p.Thr1000=)
n.329+3009A=
6g.33443597_33443598delCA2678276595SYNGAP1,SYNGAP1-AS1c.2787_2788del (p.Asp930LeufsTer?)
c.3045_3046del (p.Asp1016LeufsTer?)
c.3003_3004del (p.Asp1002LeufsTer?)
c.2868_2869del (p.Asp957LeufsTer?)
c.3000_3001del (p.Asp1001LeufsTer?)
n.329+3008_329+3009del
 gnomAD v4
6g.33443597_33443598insCCA2678276598SYNGAP1,SYNGAP1-AS1c.2787_2788insC (p.Asp930ArgfsTer?)
c.3045_3046insC (p.Asp1016ArgfsTer?)
c.3003_3004insC (p.Asp1002ArgfsTer?)
c.2868_2869insC (p.Asp957ArgfsTer?)
c.3000_3001insC (p.Asp1001ArgfsTer?)
n.329+3008_329+3009insG
 gnomAD v4
6g.33443598G>ACA363630701SYNGAP1,SYNGAP1-AS1c.2788G>A (p.Asp930Asn)
c.3046G>A (p.Asp1016Asn)
c.3004G>A (p.Asp1002Asn)
c.2869G>A (p.Asp957Asn)
c.3001G>A (p.Asp1001Asn)
n.329+3008C>T
 COSMIC COSMIC
6g.33443598G>CCA363630691SYNGAP1,SYNGAP1-AS1c.2788G>C (p.Asp930His)
c.3046G>C (p.Asp1016His)
c.3004G>C (p.Asp1002His)
c.2869G>C (p.Asp957His)
c.3001G>C (p.Asp1001His)
n.329+3008C>G
 gnomAD v4
6g.33443598G>TCA363630697SYNGAP1,SYNGAP1-AS1c.2788G>T (p.Asp930Tyr)
c.3046G>T (p.Asp1016Tyr)
c.3004G>T (p.Asp1002Tyr)
c.2869G>T (p.Asp957Tyr)
c.3001G>T (p.Asp1001Tyr)
n.329+3008C>A
6g.33443598_33443600delCA2678276600SYNGAP1,SYNGAP1-AS1c.2788_2790del (p.Asp930del)
c.3046_3048del (p.Asp1016del)
c.3004_3006del (p.Asp1002del)
c.2869_2871del (p.Asp957del)
c.3001_3003del (p.Asp1001del)
n.329+3006_329+3008del
 gnomAD v4
6g.33443598_33443606delCA2770567229SYNGAP1,SYNGAP1-AS1c.2788_2796del (p.Asp930_Thr932del)
c.3046_3054del (p.Asp1016_Thr1018del)
c.3004_3012del (p.Asp1002_Thr1004del)
c.2869_2877del (p.Asp957_Thr959del)
c.3001_3009del (p.Asp1001_Thr1003del)
n.329+3000_329+3008del
6g.33443599delCA2678276602SYNGAP1,SYNGAP1-AS1c.2789del (p.Asp930AlafsTer?)
c.3047del (p.Asp1016AlafsTer?)
c.3005del (p.Asp1002AlafsTer?)
c.2870del (p.Asp957AlafsTer?)
c.3002del (p.Asp1001AlafsTer?)
n.329+3007del
 gnomAD v4
6g.33443599A>CCA363630706SYNGAP1,SYNGAP1-AS1c.2789A>C (p.Asp930Ala)
c.3047A>C (p.Asp1016Ala)
c.3005A>C (p.Asp1002Ala)
c.2870A>C (p.Asp957Ala)
c.3002A>C (p.Asp1001Ala)
n.329+3007T>G
6g.33443599A>GCA363630710SYNGAP1,SYNGAP1-AS1c.2789A>G (p.Asp930Gly)
c.3047A>G (p.Asp1016Gly)
c.3005A>G (p.Asp1002Gly)
c.2870A>G (p.Asp957Gly)
c.3002A>G (p.Asp1001Gly)
n.329+3007T>C
6g.33443599A>TCA363630714SYNGAP1,SYNGAP1-AS1c.2789A>T (p.Asp930Val)
c.3047A>T (p.Asp1016Val)
c.3005A>T (p.Asp1002Val)
c.2870A>T (p.Asp957Val)
c.3002A>T (p.Asp1001Val)
n.329+3007T>A
6g.33443599dupCA2770567230SYNGAP1,SYNGAP1-AS1c.2789dup (p.Asp930GlufsTer?)
c.3047dup (p.Asp1016GlufsTer?)
c.3005dup (p.Asp1002GlufsTer?)
c.2870dup (p.Asp957GlufsTer?)
c.3002dup (p.Asp1001GlufsTer?)
n.329+3007dup
6g.33443599_33443600delinsACCA1620014700SYNGAP1,SYNGAP1-AS1c.2789_2790delinsAC (p.Asp930=)
c.3047_3048delinsAC (p.Asp1016=)
c.3005_3006delinsAC (p.Asp1002=)
c.2870_2871delinsAC (p.Asp957=)
c.3002_3003delinsAC (p.Asp1001=)
n.329+3006_329+3007delinsGT
6g.33443599_33443601delCA2678276603SYNGAP1,SYNGAP1-AS1c.2789_2791del (p.Asp930_Phe931delinsVal)
c.3047_3049del (p.Asp1016_Phe1017delinsVal)
c.3005_3007del (p.Asp1002_Phe1003delinsVal)
c.2870_2872del (p.Asp957_Phe958delinsVal)
c.3002_3004del (p.Asp1001_Phe1002delinsVal)
n.329+3005_329+3007del
 gnomAD v4
6g.33443599_33443600insATCA2770567231SYNGAP1,SYNGAP1-AS1c.2789_2790insAT (p.Asp930GlufsTer?)
c.3047_3048insAT (p.Asp1016GlufsTer?)
c.3005_3006insAT (p.Asp1002GlufsTer?)
c.2870_2871insAT (p.Asp957GlufsTer?)
c.3002_3003insAT (p.Asp1001GlufsTer?)
n.329+3006_329+3007insAT
6g.33443599_33443600insGATCA2678276607SYNGAP1,SYNGAP1-AS1c.2789_2790insGAT (p.Asp930delinsGluIle)
c.3047_3048insGAT (p.Asp1016delinsGluIle)
c.3005_3006insGAT (p.Asp1002delinsGluIle)
c.2870_2871insGAT (p.Asp957delinsGluIle)
c.3002_3003insGAT (p.Asp1001delinsGluIle)
n.329+3006_329+3007insATC
 gnomAD v4
6g.33443600delCA566700710SYNGAP1,SYNGAP1-AS1c.2790del (p.Phe931SerfsTer?)
c.3048del (p.Phe1017SerfsTer?)
c.3006del (p.Phe1003SerfsTer?)
c.2871del (p.Phe958SerfsTer?)
c.3003del (p.Phe1002SerfsTer?)
n.329+3006del
 dbSNP gnomAD v2 gnomAD v4
6g.33443600C>ACA363630717SYNGAP1,SYNGAP1-AS1c.2790C>A (p.Asp930Glu)
c.3048C>A (p.Asp1016Glu)
c.3006C>A (p.Asp1002Glu)
c.2871C>A (p.Asp957Glu)
c.3003C>A (p.Asp1001Glu)
n.329+3006G>T
 dbSNP gnomAD v3 gnomAD v4
6g.33443600C=CA1620014701SYNGAP1,SYNGAP1-AS1c.2790C= (p.Asp930=)
c.3048C= (p.Asp1016=)
c.3006C= (p.Asp1002=)
c.2871C= (p.Asp957=)
c.3003C= (p.Asp1001=)
n.329+3006G=
6g.33443600C>GCA363630726SYNGAP1,SYNGAP1-AS1c.2790C>G (p.Asp930Glu)
c.3048C>G (p.Asp1016Glu)
c.3006C>G (p.Asp1002Glu)
c.2871C>G (p.Asp957Glu)
c.3003C>G (p.Asp1001Glu)
n.329+3006G>C
6g.33443600C>TCA137073290SYNGAP1,SYNGAP1-AS1c.2790C>T (p.Asp930=)
c.3048C>T (p.Asp1016=)
c.3006C>T (p.Asp1002=)
c.2871C>T (p.Asp957=)
c.3003C>T (p.Asp1001=)
n.329+3006G>A
 dbSNP
6g.33443600_33443601insAACA2678276609SYNGAP1,SYNGAP1-AS1c.2790_2791insAA (p.Phe931AsnfsTer?)
c.3048_3049insAA (p.Phe1017AsnfsTer?)
c.3006_3007insAA (p.Phe1003AsnfsTer?)
c.2871_2872insAA (p.Phe958AsnfsTer?)
c.3003_3004insAA (p.Phe1002AsnfsTer?)
n.329+3005_329+3006insTT
 gnomAD v4
6g.33443601T>ACA363630736SYNGAP1,SYNGAP1-AS1c.2791T>A (p.Phe931Ile)
c.3049T>A (p.Phe1017Ile)
c.3007T>A (p.Phe1003Ile)
c.2872T>A (p.Phe958Ile)
c.3004T>A (p.Phe1002Ile)
n.329+3005A>T
6g.33443601T>CCA363630729SYNGAP1,SYNGAP1-AS1c.2791T>C (p.Phe931Leu)
c.3049T>C (p.Phe1017Leu)
c.3007T>C (p.Phe1003Leu)
c.2872T>C (p.Phe958Leu)
c.3004T>C (p.Phe1002Leu)
n.329+3005A>G
6g.33443601T>GCA363630732SYNGAP1,SYNGAP1-AS1c.2791T>G (p.Phe931Val)
c.3049T>G (p.Phe1017Val)
c.3007T>G (p.Phe1003Val)
c.2872T>G (p.Phe958Val)
c.3004T>G (p.Phe1002Val)
n.329+3005A>C
6g.33443601_33443602delCA2770567232SYNGAP1,SYNGAP1-AS1c.2791_2792del (p.Phe931HisfsTer?)
c.3049_3050del (p.Phe1017HisfsTer?)
c.3007_3008del (p.Phe1003HisfsTer?)
c.2872_2873del (p.Phe958HisfsTer?)
c.3004_3005del (p.Phe1002HisfsTer?)
n.329+3004_329+3005del
6g.33443601_33443602insATTACA2678276613SYNGAP1,SYNGAP1-AS1c.2791_2792insATTA (p.Phe931TyrfsTer?)
c.3049_3050insATTA (p.Phe1017TyrfsTer?)
c.3007_3008insATTA (p.Phe1003TyrfsTer?)
c.2872_2873insATTA (p.Phe958TyrfsTer?)
c.3004_3005insATTA (p.Phe1002TyrfsTer?)
n.329+3004_329+3005insTAAT
 gnomAD v4
6g.33443601_33443602insACACGCCA2678276612SYNGAP1,SYNGAP1-AS1c.2791_2792insACACGC (p.Phe931delinsTyrThrLeu)
c.3049_3050insACACGC (p.Phe1017delinsTyrThrLeu)
c.3007_3008insACACGC (p.Phe1003delinsTyrThrLeu)
c.2872_2873insACACGC (p.Phe958delinsTyrThrLeu)
c.3004_3005insACACGC (p.Phe1002delinsTyrThrLeu)
n.329+3004_329+3005insGCGTGT
 gnomAD v4
6g.33443602T>ACA363630739SYNGAP1,SYNGAP1-AS1c.2792T>A (p.Phe931Tyr)
c.3050T>A (p.Phe1017Tyr)
c.3008T>A (p.Phe1003Tyr)
c.2873T>A (p.Phe958Tyr)
c.3005T>A (p.Phe1002Tyr)
n.329+3004A>T
 gnomAD v4
6g.33443602T>CCA363630744SYNGAP1,SYNGAP1-AS1c.2792T>C (p.Phe931Ser)
c.3050T>C (p.Phe1017Ser)
c.3008T>C (p.Phe1003Ser)
c.2873T>C (p.Phe958Ser)
c.3005T>C (p.Phe1002Ser)
n.329+3004A>G
6g.33443602T>GCA363630747SYNGAP1,SYNGAP1-AS1c.2792T>G (p.Phe931Cys)
c.3050T>G (p.Phe1017Cys)
c.3008T>G (p.Phe1003Cys)
c.2873T>G (p.Phe958Cys)
c.3005T>G (p.Phe1002Cys)
n.329+3004A>C
6g.33443602_33443603insAATCA2678276614SYNGAP1,SYNGAP1-AS1c.2792_2793insAAT (p.Phe931delinsLeuIle)
c.3050_3051insAAT (p.Phe1017delinsLeuIle)
c.3008_3009insAAT (p.Phe1003delinsLeuIle)
c.2873_2874insAAT (p.Phe958delinsLeuIle)
c.3005_3006insAAT (p.Phe1002delinsLeuIle)
n.329+3004_329+3005insTTA
 gnomAD v4
6g.33443602_33443606delCA2678276615SYNGAP1,SYNGAP1-AS1c.2792_2796del (p.Phe931SerfsTer?)
c.3050_3054del (p.Phe1017SerfsTer?)
c.3008_3012del (p.Phe1003SerfsTer?)
c.2873_2877del (p.Phe958SerfsTer?)
c.3005_3009del (p.Phe1002SerfsTer?)
n.329+3000_329+3004del
 gnomAD v4
6g.33443603C>ACA363630752SYNGAP1,SYNGAP1-AS1c.2793C>A (p.Phe931Leu)
c.3051C>A (p.Phe1017Leu)
c.3009C>A (p.Phe1003Leu)
c.2874C>A (p.Phe958Leu)
c.3006C>A (p.Phe1002Leu)
n.329+3003G>T
 dbSNP gnomAD v2 gnomAD v4
6g.33443603C=CA1620014702SYNGAP1,SYNGAP1-AS1c.2793C= (p.Phe931=)
c.3051C= (p.Phe1017=)
c.3009C= (p.Phe1003=)
c.2874C= (p.Phe958=)
c.3006C= (p.Phe1002=)
n.329+3003G=
6g.33443603C>GCA363630767SYNGAP1,SYNGAP1-AS1c.2793C>G (p.Phe931Leu)
c.3051C>G (p.Phe1017Leu)
c.3009C>G (p.Phe1003Leu)
c.2874C>G (p.Phe958Leu)
c.3006C>G (p.Phe1002Leu)
n.329+3003G>C
6g.33443603C>TCA450104208SYNGAP1,SYNGAP1-AS1c.2793C>T (p.Phe931=)
c.3051C>T (p.Phe1017=)
c.3009C>T (p.Phe1003=)
c.2874C>T (p.Phe958=)
c.3006C>T (p.Phe1002=)
n.329+3003G>A
6g.33443604_33443605delCA2770567233SYNGAP1,SYNGAP1-AS1c.2794_2795del (p.Thr932ProfsTer?)
c.3052_3053del (p.Thr1018ProfsTer?)
c.3010_3011del (p.Thr1004ProfsTer?)
c.2875_2876del (p.Thr959ProfsTer?)
c.3007_3008del (p.Thr1003ProfsTer?)
n.329+3002_329+3003del
6g.33443604_33443607delCA2678276616SYNGAP1,SYNGAP1-AS1c.2794_2797del (p.Thr932ValfsTer?)
c.3052_3055del (p.Thr1018ValfsTer?)
c.3010_3013del (p.Thr1004ValfsTer?)
c.2875_2878del (p.Thr959ValfsTer?)
c.3007_3010del (p.Thr1003ValfsTer?)
n.329+3000_329+3003del
 gnomAD v4
6g.33443604A>CCA363630772SYNGAP1,SYNGAP1-AS1c.2794A>C (p.Thr932Pro)
c.3052A>C (p.Thr1018Pro)
c.3010A>C (p.Thr1004Pro)
c.2875A>C (p.Thr959Pro)
c.3007A>C (p.Thr1003Pro)
n.329+3002T>G
6g.33443604A>GCA363630777SYNGAP1,SYNGAP1-AS1c.2794A>G (p.Thr932Ala)
c.3052A>G (p.Thr1018Ala)
c.3010A>G (p.Thr1004Ala)
c.2875A>G (p.Thr959Ala)
c.3007A>G (p.Thr1003Ala)
n.329+3002T>C
6g.33443604A>TCA363630774SYNGAP1,SYNGAP1-AS1c.2794A>T (p.Thr932Ser)
c.3052A>T (p.Thr1018Ser)
c.3010A>T (p.Thr1004Ser)
c.2875A>T (p.Thr959Ser)
c.3007A>T (p.Thr1003Ser)
n.329+3002T>A
6g.33443604dupCA2678276617SYNGAP1,SYNGAP1-AS1c.2794dup (p.Thr932AsnfsTer?)
c.3052dup (p.Thr1018AsnfsTer?)
c.3010dup (p.Thr1004AsnfsTer?)
c.2875dup (p.Thr959AsnfsTer?)
c.3007dup (p.Thr1003AsnfsTer?)
n.329+3002dup
 gnomAD v4
6g.33443605C>ACA363630779SYNGAP1,SYNGAP1-AS1c.2795C>A (p.Thr932Asn)
c.3053C>A (p.Thr1018Asn)
c.3011C>A (p.Thr1004Asn)
c.2876C>A (p.Thr959Asn)
c.3008C>A (p.Thr1003Asn)
n.329+3001G>T
6g.33443605C=CA1620014703SYNGAP1,SYNGAP1-AS1c.2795C= (p.Thr932=)
c.3053C= (p.Thr1018=)
c.3011C= (p.Thr1004=)
c.2876C= (p.Thr959=)
c.3008C= (p.Thr1003=)
n.329+3001G=
6g.33443605C>GCA363630781SYNGAP1,SYNGAP1-AS1c.2795C>G (p.Thr932Ser)
c.3053C>G (p.Thr1018Ser)
c.3011C>G (p.Thr1004Ser)
c.2876C>G (p.Thr959Ser)
c.3008C>G (p.Thr1003Ser)
n.329+3001G>C
6g.33443605C>TCA363630784SYNGAP1,SYNGAP1-AS1c.2795C>T (p.Thr932Ile)
c.3053C>T (p.Thr1018Ile)
c.3011C>T (p.Thr1004Ile)
c.2876C>T (p.Thr959Ile)
c.3008C>T (p.Thr1003Ile)
n.329+3001G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443607delCA2739272945SYNGAP1,SYNGAP1-AS1c.2797del (p.Arg933ValfsTer?)
c.3055del (p.Arg1019ValfsTer?)
c.3013del (p.Arg1005ValfsTer?)
c.2878del (p.Arg960ValfsTer?)
c.3010del (p.Arg1004ValfsTer?)
n.329+3001del
 ClinVar
6g.33443605_33443606insGCA2678276623SYNGAP1,SYNGAP1-AS1c.2795_2796insG (p.Arg933ProfsTer?)
c.3053_3054insG (p.Arg1019ProfsTer?)
c.3011_3012insG (p.Arg1005ProfsTer?)
c.2876_2877insG (p.Arg960ProfsTer?)
c.3008_3009insG (p.Arg1004ProfsTer?)
n.329+3000_329+3001insC
 gnomAD v4
6g.33443605_33443606insGACA2678276624SYNGAP1,SYNGAP1-AS1c.2795_2796insGA (p.Arg933ThrfsTer?)
c.3053_3054insGA (p.Arg1019ThrfsTer?)
c.3011_3012insGA (p.Arg1005ThrfsTer?)
c.2876_2877insGA (p.Arg960ThrfsTer?)
c.3008_3009insGA (p.Arg1004ThrfsTer?)
n.329+3000_329+3001insTC
 gnomAD v4
6g.33443605_33443606insAGACA2678276625SYNGAP1,SYNGAP1-AS1c.2795_2796insAGA (p.Thr932_Arg933insAsp)
c.3053_3054insAGA (p.Thr1018_Arg1019insAsp)
c.3011_3012insAGA (p.Thr1004_Arg1005insAsp)
c.2876_2877insAGA (p.Thr959_Arg960insAsp)
c.3008_3009insAGA (p.Thr1003_Arg1004insAsp)
n.329+3000_329+3001insTCT
 gnomAD v4
6g.33443605_33443606insAGAGTAGACA2678276626SYNGAP1,SYNGAP1-AS1c.2795_2796insAGAGTAGA (p.Arg933GlufsTer2)
c.3053_3054insAGAGTAGA (p.Arg1019GlufsTer2)
c.3011_3012insAGAGTAGA (p.Arg1005GlufsTer2)
c.2876_2877insAGAGTAGA (p.Arg960GlufsTer2)
c.3008_3009insAGAGTAGA (p.Arg1004GlufsTer2)
n.329+3000_329+3001insTCTACTCT
 gnomAD v4
6g.33443606C>ACA450104209SYNGAP1,SYNGAP1-AS1c.2796C>A (p.Thr932=)
c.3054C>A (p.Thr1018=)
c.3012C>A (p.Thr1004=)
c.2877C>A (p.Thr959=)
c.3009C>A (p.Thr1003=)
n.329+3000G>T
6g.33443606C=CA1620014704SYNGAP1,SYNGAP1-AS1c.2796C= (p.Thr932=)
c.3054C= (p.Thr1018=)
c.3012C= (p.Thr1004=)
c.2877C= (p.Thr959=)
c.3009C= (p.Thr1003=)
n.329+3000G=
6g.33443606C>GCA3758978SYNGAP1,SYNGAP1-AS1c.2796C>G (p.Thr932=)
c.3054C>G (p.Thr1018=)
c.3012C>G (p.Thr1004=)
c.2877C>G (p.Thr959=)
c.3009C>G (p.Thr1003=)
n.329+3000G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33443606C>TCA450104210SYNGAP1,SYNGAP1-AS1c.2796C>T (p.Thr932=)
c.3054C>T (p.Thr1018=)
c.3012C>T (p.Thr1004=)
c.2877C>T (p.Thr959=)
c.3009C>T (p.Thr1003=)
n.329+3000G>A
 gnomAD v4
6g.33443606_33443607insATCA2678276640SYNGAP1,SYNGAP1-AS1c.2796_2797insAT (p.Arg933IlefsTer?)
c.3054_3055insAT (p.Arg1019IlefsTer?)
c.3012_3013insAT (p.Arg1005IlefsTer?)
c.2877_2878insAT (p.Arg960IlefsTer?)
c.3009_3010insAT (p.Arg1004IlefsTer?)
n.329+2999_329+3000insAT
 gnomAD v4
6g.33443606_33443607insTTCA2678276637SYNGAP1,SYNGAP1-AS1c.2796_2797insTT (p.Arg933PhefsTer?)
c.3054_3055insTT (p.Arg1019PhefsTer?)
c.3012_3013insTT (p.Arg1005PhefsTer?)
c.2877_2878insTT (p.Arg960PhefsTer?)
c.3009_3010insTT (p.Arg1004PhefsTer?)
n.329+2999_329+3000insAA
 gnomAD v4
6g.33443606_33443607insATTCA2770567236SYNGAP1,SYNGAP1-AS1c.2796_2797insATT (p.Thr932_Arg933insIle)
c.3054_3055insATT (p.Thr1018_Arg1019insIle)
c.3012_3013insATT (p.Thr1004_Arg1005insIle)
c.2877_2878insATT (p.Thr959_Arg960insIle)
c.3009_3010insATT (p.Thr1003_Arg1004insIle)
n.329+2999_329+3000insAAT
6g.33443606_33443607insTTTCA2678276634SYNGAP1,SYNGAP1-AS1c.2796_2797insTTT (p.Thr932_Arg933insPhe)
c.3054_3055insTTT (p.Thr1018_Arg1019insPhe)
c.3012_3013insTTT (p.Thr1004_Arg1005insPhe)
c.2877_2878insTTT (p.Thr959_Arg960insPhe)
c.3009_3010insTTT (p.Thr1003_Arg1004insPhe)
n.329+2999_329+3000insAAA
 gnomAD v4
6g.33443606_33443607insGGTTATCA2678276639SYNGAP1,SYNGAP1-AS1c.2796_2797insGGTTAT (p.Thr932_Arg933insGlyTyr)
c.3054_3055insGGTTAT (p.Thr1018_Arg1019insGlyTyr)
c.3012_3013insGGTTAT (p.Thr1004_Arg1005insGlyTyr)
c.2877_2878insGGTTAT (p.Thr959_Arg960insGlyTyr)
c.3009_3010insGGTTAT (p.Thr1003_Arg1004insGlyTyr)
n.329+2999_329+3000insATAACC
 gnomAD v4
6g.33443606_33443607insACAATTTCA2678276638SYNGAP1,SYNGAP1-AS1c.2796_2797insACAATTT (p.Arg933ThrfsTer?)
c.3054_3055insACAATTT (p.Arg1019ThrfsTer?)
c.3012_3013insACAATTT (p.Arg1005ThrfsTer?)
c.2877_2878insACAATTT (p.Arg960ThrfsTer?)
c.3009_3010insACAATTT (p.Arg1004ThrfsTer?)
n.329+2999_329+3000insAAATTGT
 gnomAD v4
6g.33443606_33443607insAGGTTGTCA2770567235SYNGAP1,SYNGAP1-AS1c.2796_2797insAGGTTGT (p.Arg934LeufsTer?)
c.3054_3055insAGGTTGT (p.Arg1020LeufsTer?)
c.3012_3013insAGGTTGT (p.Arg1006LeufsTer?)
c.2877_2878insAGGTTGT (p.Arg961LeufsTer?)
c.3009_3010insAGGTTGT (p.Arg1005LeufsTer?)
n.329+2999_329+3000insACAACCT
6g.33443606_33443607insAACTGATTCA2678276632SYNGAP1,SYNGAP1-AS1c.2796_2797insAACTGATT (p.Arg933AsnfsTer2)
c.3054_3055insAACTGATT (p.Arg1019AsnfsTer2)
c.3012_3013insAACTGATT (p.Arg1005AsnfsTer2)
c.2877_2878insAACTGATT (p.Arg960AsnfsTer2)
c.3009_3010insAACTGATT (p.Arg1004AsnfsTer2)
n.329+2999_329+3000insAATCAGTT
 gnomAD v4
6g.33443606_33443607insTGTATTCTCA2678276636SYNGAP1,SYNGAP1-AS1c.2796_2797insTGTATTCT (p.Arg933CysfsTer?)
c.3054_3055insTGTATTCT (p.Arg1019CysfsTer?)
c.3012_3013insTGTATTCT (p.Arg1005CysfsTer?)
c.2877_2878insTGTATTCT (p.Arg960CysfsTer?)
c.3009_3010insTGTATTCT (p.Arg1004CysfsTer?)
n.329+2999_329+3000insAGAATACA
 gnomAD v4
6g.33443607C>ACA363630787SYNGAP1,SYNGAP1-AS1c.2797C>A (p.Arg933Ser)
c.3055C>A (p.Arg1019Ser)
c.3013C>A (p.Arg1005Ser)
c.2878C>A (p.Arg960Ser)
c.3010C>A (p.Arg1004Ser)
n.329+2999G>T
 COSMIC COSMIC
6g.33443607C=CA1620014705SYNGAP1,SYNGAP1-AS1c.2797C= (p.Arg933=)
c.3055C= (p.Arg1019=)
c.3013C= (p.Arg1005=)
c.2878C= (p.Arg960=)
c.3010C= (p.Arg1004=)
n.329+2999G=
6g.33443607C>GCA363630789SYNGAP1,SYNGAP1-AS1c.2797C>G (p.Arg933Gly)
c.3055C>G (p.Arg1019Gly)
c.3013C>G (p.Arg1005Gly)
c.2878C>G (p.Arg960Gly)
c.3010C>G (p.Arg1004Gly)
n.329+2999G>C
6g.33443607C>TCA3758979SYNGAP1,SYNGAP1-AS1c.2797C>T (p.Arg933Cys)
c.3055C>T (p.Arg1019Cys)
c.3013C>T (p.Arg1005Cys)
c.2878C>T (p.Arg960Cys)
c.3010C>T (p.Arg1004Cys)
n.329+2999G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443608G>ACA3758980SYNGAP1,SYNGAP1-AS1c.2798G>A (p.Arg933His)
c.3056G>A (p.Arg1019His)
c.3014G>A (p.Arg1005His)
c.2879G>A (p.Arg960His)
c.3011G>A (p.Arg1004His)
n.329+2998C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443608G>CCA363630794SYNGAP1,SYNGAP1-AS1c.2798G>C (p.Arg933Pro)
c.3056G>C (p.Arg1019Pro)
c.3014G>C (p.Arg1005Pro)
c.2879G>C (p.Arg960Pro)
c.3011G>C (p.Arg1004Pro)
n.329+2998C>G
6g.33443608G=CA1620014706SYNGAP1,SYNGAP1-AS1c.2798G= (p.Arg933=)
c.3056G= (p.Arg1019=)
c.3014G= (p.Arg1005=)
c.2879G= (p.Arg960=)
c.3011G= (p.Arg1004=)
n.329+2998C=
6g.33443608G>TCA363630796SYNGAP1,SYNGAP1-AS1c.2798G>T (p.Arg933Leu)
c.3056G>T (p.Arg1019Leu)
c.3014G>T (p.Arg1005Leu)
c.2879G>T (p.Arg960Leu)
c.3011G>T (p.Arg1004Leu)
n.329+2998C>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443609T>ACA450104211SYNGAP1,SYNGAP1-AS1c.2799T>A (p.Arg933=)
c.3057T>A (p.Arg1019=)
c.3015T>A (p.Arg1005=)
c.2880T>A (p.Arg960=)
c.3012T>A (p.Arg1004=)
n.329+2997A>T
6g.33443609T>CCA450104212SYNGAP1,SYNGAP1-AS1c.2799T>C (p.Arg933=)
c.3057T>C (p.Arg1019=)
c.3015T>C (p.Arg1005=)
c.2880T>C (p.Arg960=)
c.3012T>C (p.Arg1004=)
n.329+2997A>G
6g.33443609T>GCA450104213SYNGAP1,SYNGAP1-AS1c.2799T>G (p.Arg933=)
c.3057T>G (p.Arg1019=)
c.3015T>G (p.Arg1005=)
c.2880T>G (p.Arg960=)
c.3012T>G (p.Arg1004=)
n.329+2997A>C
 ClinVar
6g.33443610C>ACA450104214SYNGAP1,SYNGAP1-AS1c.2800C>A (p.Arg934=)
c.3058C>A (p.Arg1020=)
c.3016C>A (p.Arg1006=)
c.2881C>A (p.Arg961=)
c.3013C>A (p.Arg1005=)
n.329+2996G>T
6g.33443610C=CA1620014707SYNGAP1,SYNGAP1-AS1c.2800C= (p.Arg934=)
c.3058C= (p.Arg1020=)
c.3016C= (p.Arg1006=)
c.2881C= (p.Arg961=)
c.3013C= (p.Arg1005=)
n.329+2996G=
6g.33443610C>GCA363630798SYNGAP1,SYNGAP1-AS1c.2800C>G (p.Arg934Gly)
c.3058C>G (p.Arg1020Gly)
c.3016C>G (p.Arg1006Gly)
c.2881C>G (p.Arg961Gly)
c.3013C>G (p.Arg1005Gly)
n.329+2996G>C
6g.33443610C>TCA3758981SYNGAP1,SYNGAP1-AS1c.2800C>T (p.Arg934Trp)
c.3058C>T (p.Arg1020Trp)
c.3016C>T (p.Arg1006Trp)
c.2881C>T (p.Arg961Trp)
c.3013C>T (p.Arg1005Trp)
n.329+2996G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443610_33443611delinsCGCA1620014708SYNGAP1,SYNGAP1-AS1c.2800_2801delinsCG (p.Arg934=)
c.3058_3059delinsCG (p.Arg1020=)
c.3016_3017delinsCG (p.Arg1006=)
c.2881_2882delinsCG (p.Arg961=)
c.3013_3014delinsCG (p.Arg1005=)
n.329+2995_329+2996delinsCG
6g.33443611G>ACA363630806SYNGAP1,SYNGAP1-AS1c.2801G>A (p.Arg934Gln)
c.3059G>A (p.Arg1020Gln)
c.3017G>A (p.Arg1006Gln)
c.2882G>A (p.Arg961Gln)
c.3014G>A (p.Arg1005Gln)
n.329+2995C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33443611G>CCA363630813SYNGAP1,SYNGAP1-AS1c.2801G>C (p.Arg934Pro)
c.3059G>C (p.Arg1020Pro)
c.3017G>C (p.Arg1006Pro)
c.2882G>C (p.Arg961Pro)
c.3014G>C (p.Arg1005Pro)
n.329+2995C>G
6g.33443611G=CA1620014709SYNGAP1,SYNGAP1-AS1c.2801G= (p.Arg934=)
c.3059G= (p.Arg1020=)
c.3017G= (p.Arg1006=)
c.2882G= (p.Arg961=)
c.3014G= (p.Arg1005=)
n.329+2995C=
6g.33443611G>TCA363630809SYNGAP1,SYNGAP1-AS1c.2801G>T (p.Arg934Leu)
c.3059G>T (p.Arg1020Leu)
c.3017G>T (p.Arg1006Leu)
c.2882G>T (p.Arg961Leu)
c.3014G>T (p.Arg1005Leu)
n.329+2995C>A
 ClinVar dbSNP
6g.33443612delCA658796747SYNGAP1,SYNGAP1-AS1c.2802del (p.Gln935SerfsTer?)
c.3060del (p.Gln1021SerfsTer?)
c.3018del (p.Gln1007SerfsTer?)
c.2883del (p.Gln962SerfsTer?)
c.3015del (p.Gln1006SerfsTer?)
n.329+2995del
 ClinVar dbSNP
6g.33443612G>ACA450104215SYNGAP1,SYNGAP1-AS1c.2802G>A (p.Arg934=)
c.3060G>A (p.Arg1020=)
c.3018G>A (p.Arg1006=)
c.2883G>A (p.Arg961=)
c.3015G>A (p.Arg1005=)
n.329+2994C>T
6g.33443612G>CCA450104216SYNGAP1,SYNGAP1-AS1c.2802G>C (p.Arg934=)
c.3060G>C (p.Arg1020=)
c.3018G>C (p.Arg1006=)
c.2883G>C (p.Arg961=)
c.3015G>C (p.Arg1005=)
n.329+2994C>G
6g.33443612G>TCA450104217SYNGAP1,SYNGAP1-AS1c.2802G>T (p.Arg934=)
c.3060G>T (p.Arg1020=)
c.3018G>T (p.Arg1006=)
c.2883G>T (p.Arg961=)
c.3015G>T (p.Arg1005=)
n.329+2994C>A
6g.33443613C>ACA363630817SYNGAP1,SYNGAP1-AS1c.2803C>A (p.Gln935Lys)
c.3061C>A (p.Gln1021Lys)
c.3019C>A (p.Gln1007Lys)
c.2884C>A (p.Gln962Lys)
c.3016C>A (p.Gln1006Lys)
n.329+2993G>T
6g.33443613C=CA1620014710SYNGAP1,SYNGAP1-AS1c.2803C= (p.Gln935=)
c.3061C= (p.Gln1021=)
c.3019C= (p.Gln1007=)
c.2884C= (p.Gln962=)
c.3016C= (p.Gln1006=)
n.329+2993G=
6g.33443613C>GCA363630819SYNGAP1,SYNGAP1-AS1c.2803C>G (p.Gln935Glu)
c.3061C>G (p.Gln1021Glu)
c.3019C>G (p.Gln1007Glu)
c.2884C>G (p.Gln962Glu)
c.3016C>G (p.Gln1006Glu)
n.329+2993G>C
6g.33443613C>TCA363630820SYNGAP1,SYNGAP1-AS1c.2803C>T (p.Gln935Ter)
c.3061C>T (p.Gln1021Ter)
c.3019C>T (p.Gln1007Ter)
c.2884C>T (p.Gln962Ter)
c.3016C>T (p.Gln1006Ter)
n.329+2993G>A
 ClinVar dbSNP
6g.33443614A>CCA363630826SYNGAP1,SYNGAP1-AS1c.2804A>C (p.Gln935Pro)
c.3062A>C (p.Gln1021Pro)
c.3020A>C (p.Gln1007Pro)
c.2885A>C (p.Gln962Pro)
c.3017A>C (p.Gln1006Pro)
n.329+2992T>G
6g.33443614A>GCA363630828SYNGAP1,SYNGAP1-AS1c.2804A>G (p.Gln935Arg)
c.3062A>G (p.Gln1021Arg)
c.3020A>G (p.Gln1007Arg)
c.2885A>G (p.Gln962Arg)
c.3017A>G (p.Gln1006Arg)
n.329+2992T>C
 gnomAD v4
6g.33443614A>TCA363630831SYNGAP1,SYNGAP1-AS1c.2804A>T (p.Gln935Leu)
c.3062A>T (p.Gln1021Leu)
c.3020A>T (p.Gln1007Leu)
c.2885A>T (p.Gln962Leu)
c.3017A>T (p.Gln1006Leu)
n.329+2992T>A
6g.33443615G>ACA450104218SYNGAP1,SYNGAP1-AS1c.2805G>A (p.Gln935=)
c.3063G>A (p.Gln1021=)
c.3021G>A (p.Gln1007=)
c.2886G>A (p.Gln962=)
c.3018G>A (p.Gln1006=)
n.329+2991C>T
 gnomAD v4
6g.33443615G>CCA363630835SYNGAP1,SYNGAP1-AS1c.2805G>C (p.Gln935His)
c.3063G>C (p.Gln1021His)
c.3021G>C (p.Gln1007His)
c.2886G>C (p.Gln962His)
c.3018G>C (p.Gln1006His)
n.329+2991C>G
6g.33443615G>TCA363630847SYNGAP1,SYNGAP1-AS1c.2805G>T (p.Gln935His)
c.3063G>T (p.Gln1021His)
c.3021G>T (p.Gln1007His)
c.2886G>T (p.Gln962His)
c.3018G>T (p.Gln1006His)
n.329+2991C>A
6g.33443616C>ACA363630851SYNGAP1,SYNGAP1-AS1c.2806C>A (p.Leu936Ile)
c.3064C>A (p.Leu1022Ile)
c.3022C>A (p.Leu1008Ile)
c.2887C>A (p.Leu963Ile)
c.3019C>A (p.Leu1007Ile)
n.329+2990G>T
6g.33443616C=CA1620014711SYNGAP1,SYNGAP1-AS1c.2806C= (p.Leu936=)
c.3064C= (p.Leu1022=)
c.3022C= (p.Leu1008=)
c.2887C= (p.Leu963=)
c.3019C= (p.Leu1007=)
n.329+2990G=
6g.33443616C>GCA363630854SYNGAP1,SYNGAP1-AS1c.2806C>G (p.Leu936Val)
c.3064C>G (p.Leu1022Val)
c.3022C>G (p.Leu1008Val)
c.2887C>G (p.Leu963Val)
c.3019C>G (p.Leu1007Val)
n.329+2990G>C
6g.33443616C>TCA363630856SYNGAP1,SYNGAP1-AS1c.2806C>T (p.Leu936Phe)
c.3064C>T (p.Leu1022Phe)
c.3022C>T (p.Leu1008Phe)
c.2887C>T (p.Leu963Phe)
c.3019C>T (p.Leu1007Phe)
n.329+2990G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33443617T>ACA363630866SYNGAP1,SYNGAP1-AS1c.2807T>A (p.Leu936His)
c.3065T>A (p.Leu1022His)
c.3023T>A (p.Leu1008His)
c.2888T>A (p.Leu963His)
c.3020T>A (p.Leu1007His)
n.329+2989A>T
6g.33443617T>CCA363630863SYNGAP1,SYNGAP1-AS1c.2807T>C (p.Leu936Pro)
c.3065T>C (p.Leu1022Pro)
c.3023T>C (p.Leu1008Pro)
c.2888T>C (p.Leu963Pro)
c.3020T>C (p.Leu1007Pro)
n.329+2989A>G
6g.33443617T>GCA363630859SYNGAP1,SYNGAP1-AS1c.2807T>G (p.Leu936Arg)
c.3065T>G (p.Leu1022Arg)
c.3023T>G (p.Leu1008Arg)
c.2888T>G (p.Leu963Arg)
c.3020T>G (p.Leu1007Arg)
n.329+2989A>C
6g.33443618T>ACA450104221SYNGAP1,SYNGAP1-AS1c.2808T>A (p.Leu936=)
c.3066T>A (p.Leu1022=)
c.3024T>A (p.Leu1008=)
c.2889T>A (p.Leu963=)
c.3021T>A (p.Leu1007=)
n.329+2988A>T
6g.33443618T>CCA450104219SYNGAP1,SYNGAP1-AS1c.2808T>C (p.Leu936=)
c.3066T>C (p.Leu1022=)
c.3024T>C (p.Leu1008=)
c.2889T>C (p.Leu963=)
c.3021T>C (p.Leu1007=)
n.329+2988A>G
6g.33443618T>GCA450104220SYNGAP1,SYNGAP1-AS1c.2808T>G (p.Leu936=)
c.3066T>G (p.Leu1022=)
c.3024T>G (p.Leu1008=)
c.2889T>G (p.Leu963=)
c.3021T>G (p.Leu1007=)
n.329+2988A>C
 gnomAD v4
6g.33443619T>ACA363630872SYNGAP1,SYNGAP1-AS1c.2809T>A (p.Ser937Thr)
c.3067T>A (p.Ser1023Thr)
c.3025T>A (p.Ser1009Thr)
c.2890T>A (p.Ser964Thr)
c.3022T>A (p.Ser1008Thr)
n.329+2987A>T
6g.33443619T>CCA363630877SYNGAP1,SYNGAP1-AS1c.2809T>C (p.Ser937Pro)
c.3067T>C (p.Ser1023Pro)
c.3025T>C (p.Ser1009Pro)
c.2890T>C (p.Ser964Pro)
c.3022T>C (p.Ser1008Pro)
n.329+2987A>G
 gnomAD v4
6g.33443619T>GCA363630879SYNGAP1,SYNGAP1-AS1c.2809T>G (p.Ser937Ala)
c.3067T>G (p.Ser1023Ala)
c.3025T>G (p.Ser1009Ala)
c.2890T>G (p.Ser964Ala)
c.3022T>G (p.Ser1008Ala)
n.329+2987A>C
6g.33443620C>ACA363630881SYNGAP1,SYNGAP1-AS1c.2810C>A (p.Ser937Ter)
c.3068C>A (p.Ser1023Ter)
c.3026C>A (p.Ser1009Ter)
c.2891C>A (p.Ser964Ter)
c.3023C>A (p.Ser1008Ter)
n.329+2986G>T
6g.33443620C>GCA363630883SYNGAP1,SYNGAP1-AS1c.2810C>G (p.Ser937Ter)
c.3068C>G (p.Ser1023Ter)
c.3026C>G (p.Ser1009Ter)
c.2891C>G (p.Ser964Ter)
c.3023C>G (p.Ser1008Ter)
n.329+2986G>C
6g.33443620C>TCA363630885SYNGAP1,SYNGAP1-AS1c.2810C>T (p.Ser937Leu)
c.3068C>T (p.Ser1023Leu)
c.3026C>T (p.Ser1009Leu)
c.2891C>T (p.Ser964Leu)
c.3023C>T (p.Ser1008Leu)
n.329+2986G>A
6g.33443621A>CCA450104222SYNGAP1,SYNGAP1-AS1c.2811A>C (p.Ser937=)
c.3069A>C (p.Ser1023=)
c.3027A>C (p.Ser1009=)
c.2892A>C (p.Ser964=)
c.3024A>C (p.Ser1008=)
n.329+2985T>G
6g.33443621A>GCA450104223SYNGAP1,SYNGAP1-AS1c.2811A>G (p.Ser937=)
c.3069A>G (p.Ser1023=)
c.3027A>G (p.Ser1009=)
c.2892A>G (p.Ser964=)
c.3024A>G (p.Ser1008=)
n.329+2985T>C
6g.33443621A>TCA450104224SYNGAP1,SYNGAP1-AS1c.2811A>T (p.Ser937=)
c.3069A>T (p.Ser1023=)
c.3027A>T (p.Ser1009=)
c.2892A>T (p.Ser964=)
c.3024A>T (p.Ser1008=)
n.329+2985T>A
6g.33443622C>ACA363630888SYNGAP1,SYNGAP1-AS1c.2812C>A (p.Leu938Ile)
c.3070C>A (p.Leu1024Ile)
c.3028C>A (p.Leu1010Ile)
c.2893C>A (p.Leu965Ile)
c.3025C>A (p.Leu1009Ile)
n.329+2984G>T
6g.33443622C>GCA363630891SYNGAP1,SYNGAP1-AS1c.2812C>G (p.Leu938Val)
c.3070C>G (p.Leu1024Val)
c.3028C>G (p.Leu1010Val)
c.2893C>G (p.Leu965Val)
c.3025C>G (p.Leu1009Val)
n.329+2984G>C
6g.33443622C>TCA363630895SYNGAP1,SYNGAP1-AS1c.2812C>T (p.Leu938Phe)
c.3070C>T (p.Leu1024Phe)
c.3028C>T (p.Leu1010Phe)
c.2893C>T (p.Leu965Phe)
c.3025C>T (p.Leu1009Phe)
n.329+2984G>A
6g.33443623T>ACA363630904SYNGAP1,SYNGAP1-AS1c.2813T>A (p.Leu938His)
c.3071T>A (p.Leu1024His)
c.3029T>A (p.Leu1010His)
c.2894T>A (p.Leu965His)
c.3026T>A (p.Leu1009His)
n.329+2983A>T
6g.33443623T>CCA363630908SYNGAP1,SYNGAP1-AS1c.2813T>C (p.Leu938Pro)
c.3071T>C (p.Leu1024Pro)
c.3029T>C (p.Leu1010Pro)
c.2894T>C (p.Leu965Pro)
c.3026T>C (p.Leu1009Pro)
n.329+2983A>G
6g.33443623T>GCA363630911SYNGAP1,SYNGAP1-AS1c.2813T>G (p.Leu938Arg)
c.3071T>G (p.Leu1024Arg)
c.3029T>G (p.Leu1010Arg)
c.2894T>G (p.Leu965Arg)
c.3026T>G (p.Leu1009Arg)
n.329+2983A>C
6g.33443624C>ACA450104225SYNGAP1,SYNGAP1-AS1c.2814C>A (p.Leu938=)
c.3072C>A (p.Leu1024=)
c.3030C>A (p.Leu1010=)
c.2895C>A (p.Leu965=)
c.3027C>A (p.Leu1009=)
n.329+2982G>T
6g.33443624C>GCA450104226SYNGAP1,SYNGAP1-AS1c.2814C>G (p.Leu938=)
c.3072C>G (p.Leu1024=)
c.3030C>G (p.Leu1010=)
c.2895C>G (p.Leu965=)
c.3027C>G (p.Leu1009=)
n.329+2982G>C
6g.33443624C>TCA450104227SYNGAP1,SYNGAP1-AS1c.2814C>T (p.Leu938=)
c.3072C>T (p.Leu1024=)
c.3030C>T (p.Leu1010=)
c.2895C>T (p.Leu965=)
c.3027C>T (p.Leu1009=)
n.329+2982G>A
 dbSNP
6g.33443625C>ACA363630918SYNGAP1,SYNGAP1-AS1c.2815C>A (p.Gln939Lys)
c.3073C>A (p.Gln1025Lys)
c.3031C>A (p.Gln1011Lys)
c.2896C>A (p.Gln966Lys)
c.3028C>A (p.Gln1010Lys)
n.329+2981G>T
6g.33443625C=CA1620014712SYNGAP1,SYNGAP1-AS1c.2815C= (p.Gln939=)
c.3073C= (p.Gln1025=)
c.3031C= (p.Gln1011=)
c.2896C= (p.Gln966=)
c.3028C= (p.Gln1010=)
n.329+2981G=
6g.33443625C>GCA363630916SYNGAP1,SYNGAP1-AS1c.2815C>G (p.Gln939Glu)
c.3073C>G (p.Gln1025Glu)
c.3031C>G (p.Gln1011Glu)
c.2896C>G (p.Gln966Glu)
c.3028C>G (p.Gln1010Glu)
n.329+2981G>C
6g.33443625C>TCA363630914SYNGAP1,SYNGAP1-AS1c.2815C>T (p.Gln939Ter)
c.3073C>T (p.Gln1025Ter)
c.3031C>T (p.Gln1011Ter)
c.2896C>T (p.Gln966Ter)
c.3028C>T (p.Gln1010Ter)
n.329+2981G>A
 ClinVar dbSNP
6g.33443626A>CCA363630922SYNGAP1,SYNGAP1-AS1c.2816A>C (p.Gln939Pro)
c.3074A>C (p.Gln1025Pro)
c.3032A>C (p.Gln1011Pro)
c.2897A>C (p.Gln966Pro)
c.3029A>C (p.Gln1010Pro)
n.329+2980T>G
6g.33443626A>GCA363630924SYNGAP1,SYNGAP1-AS1c.2816A>G (p.Gln939Arg)
c.3074A>G (p.Gln1025Arg)
c.3032A>G (p.Gln1011Arg)
c.2897A>G (p.Gln966Arg)
c.3029A>G (p.Gln1010Arg)
n.329+2980T>C
6g.33443626A>TCA363630934SYNGAP1,SYNGAP1-AS1c.2816A>T (p.Gln939Leu)
c.3074A>T (p.Gln1025Leu)
c.3032A>T (p.Gln1011Leu)
c.2897A>T (p.Gln966Leu)
c.3029A>T (p.Gln1010Leu)
n.329+2980T>A
6g.33443627G>ACA450104228SYNGAP1,SYNGAP1-AS1c.2817G>A (p.Gln939=)
c.3075G>A (p.Gln1025=)
c.3033G>A (p.Gln1011=)
c.2898G>A (p.Gln966=)
c.3030G>A (p.Gln1010=)
n.329+2979C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33443627G>CCA363630939SYNGAP1,SYNGAP1-AS1c.2817G>C (p.Gln939His)
c.3075G>C (p.Gln1025His)
c.3033G>C (p.Gln1011His)
c.2898G>C (p.Gln966His)
c.3030G>C (p.Gln1010His)
n.329+2979C>G
6g.33443627G=CA1620014713SYNGAP1,SYNGAP1-AS1c.2817G= (p.Gln939=)
c.3075G= (p.Gln1025=)
c.3033G= (p.Gln1011=)
c.2898G= (p.Gln966=)
c.3030G= (p.Gln1010=)
n.329+2979C=
6g.33443627G>TCA363630943SYNGAP1,SYNGAP1-AS1c.2817G>T (p.Gln939His)
c.3075G>T (p.Gln1025His)
c.3033G>T (p.Gln1011His)
c.2898G>T (p.Gln966His)
c.3030G>T (p.Gln1010His)
n.329+2979C>A
6g.33443628G>ACA363630945SYNGAP1,SYNGAP1-AS1c.2818G>A (p.Asp940Asn)
c.3076G>A (p.Asp1026Asn)
c.3034G>A (p.Asp1012Asn)
c.2899G>A (p.Asp967Asn)
c.3031G>A (p.Asp1011Asn)
n.329+2978C>T
6g.33443628G>CCA363630946SYNGAP1,SYNGAP1-AS1c.2818G>C (p.Asp940His)
c.3076G>C (p.Asp1026His)
c.3034G>C (p.Asp1012His)
c.2899G>C (p.Asp967His)
c.3031G>C (p.Asp1011His)
n.329+2978C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33443628G=CA1620014714SYNGAP1,SYNGAP1-AS1c.2818G= (p.Asp940=)
c.3076G= (p.Asp1026=)
c.3034G= (p.Asp1012=)
c.2899G= (p.Asp967=)
c.3031G= (p.Asp1011=)
n.329+2978C=
6g.33443628G>TCA363630947SYNGAP1,SYNGAP1-AS1c.2818G>T (p.Asp940Tyr)
c.3076G>T (p.Asp1026Tyr)
c.3034G>T (p.Asp1012Tyr)
c.2899G>T (p.Asp967Tyr)
c.3031G>T (p.Asp1011Tyr)
n.329+2978C>A
6g.33443629A>CCA363630949SYNGAP1,SYNGAP1-AS1c.2819A>C (p.Asp940Ala)
c.3077A>C (p.Asp1026Ala)
c.3035A>C (p.Asp1012Ala)
c.2900A>C (p.Asp967Ala)
c.3032A>C (p.Asp1011Ala)
n.329+2977T>G
6g.33443629A>GCA363630952SYNGAP1,SYNGAP1-AS1c.2819A>G (p.Asp940Gly)
c.3077A>G (p.Asp1026Gly)
c.3035A>G (p.Asp1012Gly)
c.2900A>G (p.Asp967Gly)
c.3032A>G (p.Asp1011Gly)
n.329+2977T>C
6g.33443629A>TCA363630958SYNGAP1,SYNGAP1-AS1c.2819A>T (p.Asp940Val)
c.3077A>T (p.Asp1026Val)
c.3035A>T (p.Asp1012Val)
c.2900A>T (p.Asp967Val)
c.3032A>T (p.Asp1011Val)
n.329+2977T>A
6g.33443630delCA2573140292SYNGAP1,SYNGAP1-AS1c.2820del (p.Asp940GlufsTer?)
c.3078del (p.Asp1026GlufsTer?)
c.3036del (p.Asp1012GlufsTer?)
c.2901del (p.Asp967GlufsTer?)
c.3033del (p.Asp1011GlufsTer?)
n.329+2976del
 ClinVar dbSNP
6g.33443630C>ACA363630963SYNGAP1,SYNGAP1-AS1c.2820C>A (p.Asp940Glu)
c.3078C>A (p.Asp1026Glu)
c.3036C>A (p.Asp1012Glu)
c.2901C>A (p.Asp967Glu)
c.3033C>A (p.Asp1011Glu)
n.329+2976G>T
 dbSNP
6g.33443630C=CA1620014715SYNGAP1,SYNGAP1-AS1c.2820C= (p.Asp940=)
c.3078C= (p.Asp1026=)
c.3036C= (p.Asp1012=)
c.2901C= (p.Asp967=)
c.3033C= (p.Asp1011=)
n.329+2976G=
6g.33443630C>GCA363630964SYNGAP1,SYNGAP1-AS1c.2820C>G (p.Asp940Glu)
c.3078C>G (p.Asp1026Glu)
c.3036C>G (p.Asp1012Glu)
c.2901C>G (p.Asp967Glu)
c.3033C>G (p.Asp1011Glu)
n.329+2976G>C
6g.33443630C>TCA450104229SYNGAP1,SYNGAP1-AS1c.2820C>T (p.Asp940=)
c.3078C>T (p.Asp1026=)
c.3036C>T (p.Asp1012=)
c.2901C>T (p.Asp967=)
c.3033C>T (p.Asp1011=)
n.329+2976G>A
6g.33443631A>CCA363630974SYNGAP1,SYNGAP1-AS1c.2821A>C (p.Asn941His)
c.3079A>C (p.Asn1027His)
c.3037A>C (p.Asn1013His)
c.2902A>C (p.Asn968His)
c.3034A>C (p.Asn1012His)
n.329+2975T>G
6g.33443631A>GCA363630973SYNGAP1,SYNGAP1-AS1c.2821A>G (p.Asn941Asp)
c.3079A>G (p.Asn1027Asp)
c.3037A>G (p.Asn1013Asp)
c.2902A>G (p.Asn968Asp)
c.3034A>G (p.Asn1012Asp)
n.329+2975T>C
6g.33443631A>TCA363630970SYNGAP1,SYNGAP1-AS1c.2821A>T (p.Asn941Tyr)
c.3079A>T (p.Asn1027Tyr)
c.3037A>T (p.Asn1013Tyr)
c.2902A>T (p.Asn968Tyr)
c.3034A>T (p.Asn1012Tyr)
n.329+2975T>A
6g.33443632A>CCA363630975SYNGAP1,SYNGAP1-AS1c.2822A>C (p.Asn941Thr)
c.3080A>C (p.Asn1027Thr)
c.3038A>C (p.Asn1013Thr)
c.2903A>C (p.Asn968Thr)
c.3035A>C (p.Asn1012Thr)
n.329+2974T>G
6g.33443632A>GCA363630976SYNGAP1,SYNGAP1-AS1c.2822A>G (p.Asn941Ser)
c.3080A>G (p.Asn1027Ser)
c.3038A>G (p.Asn1013Ser)
c.2903A>G (p.Asn968Ser)
c.3035A>G (p.Asn1012Ser)
n.329+2974T>C
6g.33443632A>TCA363630978SYNGAP1,SYNGAP1-AS1c.2822A>T (p.Asn941Ile)
c.3080A>T (p.Asn1027Ile)
c.3038A>T (p.Asn1013Ile)
c.2903A>T (p.Asn968Ile)
c.3035A>T (p.Asn1012Ile)
n.329+2974T>A
6g.33443633C>ACA363630982SYNGAP1,SYNGAP1-AS1c.2823C>A (p.Asn941Lys)
c.3081C>A (p.Asn1027Lys)
c.3039C>A (p.Asn1013Lys)
c.2904C>A (p.Asn968Lys)
c.3036C>A (p.Asn1012Lys)
n.329+2973G>T
6g.33443633C>GCA363630988SYNGAP1,SYNGAP1-AS1c.2823C>G (p.Asn941Lys)
c.3081C>G (p.Asn1027Lys)
c.3039C>G (p.Asn1013Lys)
c.2904C>G (p.Asn968Lys)
c.3036C>G (p.Asn1012Lys)
n.329+2973G>C
6g.33443633C>TCA450104230SYNGAP1,SYNGAP1-AS1c.2823C>T (p.Asn941=)
c.3081C>T (p.Asn1027=)
c.3039C>T (p.Asn1013=)
c.2904C>T (p.Asn968=)
c.3036C>T (p.Asn1012=)
n.329+2973G>A
 gnomAD v4
6g.33443634C>ACA363630992SYNGAP1,SYNGAP1-AS1c.2824C>A (p.Leu942Met)
c.3082C>A (p.Leu1028Met)
c.3040C>A (p.Leu1014Met)
c.2905C>A (p.Leu969Met)
c.3037C>A (p.Leu1013Met)
n.329+2972G>T
6g.33443634C>GCA363630995SYNGAP1,SYNGAP1-AS1c.2824C>G (p.Leu942Val)
c.3082C>G (p.Leu1028Val)
c.3040C>G (p.Leu1014Val)
c.2905C>G (p.Leu969Val)
c.3037C>G (p.Leu1013Val)
n.329+2972G>C
6g.33443634C>TCA450104231SYNGAP1,SYNGAP1-AS1c.2824C>T (p.Leu942=)
c.3082C>T (p.Leu1028=)
c.3040C>T (p.Leu1014=)
c.2905C>T (p.Leu969=)
c.3037C>T (p.Leu1013=)
n.329+2972G>A
 dbSNP
6g.33443634_33443643delinsCTGCAGCACACA1620014716SYNGAP1,SYNGAP1-AS1c.2824_2833delinsCTGCAGCACA (p.Leu942=)
c.3082_3091delinsCTGCAGCACA (p.Leu1028=)
c.3040_3049delinsCTGCAGCACA (p.Leu1014=)
c.2905_2914delinsCTGCAGCACA (p.Leu969=)
c.3037_3046delinsCTGCAGCACA (p.Leu1013=)
n.329+2963_329+2972delinsTGTGCTGCAG
6g.33443635T>ACA363630998SYNGAP1,SYNGAP1-AS1c.2825T>A (p.Leu942Gln)
c.3083T>A (p.Leu1028Gln)
c.3041T>A (p.Leu1014Gln)
c.2906T>A (p.Leu969Gln)
c.3038T>A (p.Leu1013Gln)
n.329+2971A>T
6g.33443635T>CCA363631001SYNGAP1,SYNGAP1-AS1c.2825T>C (p.Leu942Pro)
c.3083T>C (p.Leu1028Pro)
c.3041T>C (p.Leu1014Pro)
c.2906T>C (p.Leu969Pro)
c.3038T>C (p.Leu1013Pro)
n.329+2971A>G
6g.33443635T>GCA363631006SYNGAP1,SYNGAP1-AS1c.2825T>G (p.Leu942Arg)
c.3083T>G (p.Leu1028Arg)
c.3041T>G (p.Leu1014Arg)
c.2906T>G (p.Leu969Arg)
c.3038T>G (p.Leu1013Arg)
n.329+2971A>C
6g.33443635_33443636delCA2770567239SYNGAP1,SYNGAP1-AS1c.2825_2826del (p.Leu942ProfsTer?)
c.3083_3084del (p.Leu1028ProfsTer?)
c.3041_3042del (p.Leu1014ProfsTer?)
c.2906_2907del (p.Leu969ProfsTer?)
c.3038_3039del (p.Leu1013ProfsTer?)
n.329+2970_329+2971del
6g.33443638_33443646delCA3758982SYNGAP1,SYNGAP1-AS1c.2828_2836del (p.Gln943_Met945del)
c.3086_3094del (p.Gln1029_Met1031del)
c.3044_3052del (p.Gln1015_Met1017del)
c.2909_2917del (p.Gln970_Met972del)
c.3041_3049del (p.Gln1014_Met1016del)
n.329+2963_329+2971del
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443636G>ACA450104232SYNGAP1,SYNGAP1-AS1c.2826G>A (p.Leu942=)
c.3084G>A (p.Leu1028=)
c.3042G>A (p.Leu1014=)
c.2907G>A (p.Leu969=)
c.3039G>A (p.Leu1013=)
n.329+2970C>T
6g.33443636G>CCA450104233SYNGAP1,SYNGAP1-AS1c.2826G>C (p.Leu942=)
c.3084G>C (p.Leu1028=)
c.3042G>C (p.Leu1014=)
c.2907G>C (p.Leu969=)
c.3039G>C (p.Leu1013=)
n.329+2970C>G
6g.33443636G>TCA450104234SYNGAP1,SYNGAP1-AS1c.2826G>T (p.Leu942=)
c.3084G>T (p.Leu1028=)
c.3042G>T (p.Leu1014=)
c.2907G>T (p.Leu969=)
c.3039G>T (p.Leu1013=)
n.329+2970C>A
6g.33443637C>ACA363631014SYNGAP1,SYNGAP1-AS1c.2827C>A (p.Gln943Lys)
c.3085C>A (p.Gln1029Lys)
c.3043C>A (p.Gln1015Lys)
c.2908C>A (p.Gln970Lys)
c.3040C>A (p.Gln1014Lys)
n.329+2969G>T
6g.33443637C=CA1620014717SYNGAP1,SYNGAP1-AS1c.2827C= (p.Gln943=)
c.3085C= (p.Gln1029=)
c.3043C= (p.Gln1015=)
c.2908C= (p.Gln970=)
c.3040C= (p.Gln1014=)
n.329+2969G=
6g.33443637C>GCA363631020SYNGAP1,SYNGAP1-AS1c.2827C>G (p.Gln943Glu)
c.3085C>G (p.Gln1029Glu)
c.3043C>G (p.Gln1015Glu)
c.2908C>G (p.Gln970Glu)
c.3040C>G (p.Gln1014Glu)
n.329+2969G>C
 dbSNP gnomAD v3 gnomAD v4
6g.33443637C>TCA363631022SYNGAP1,SYNGAP1-AS1c.2827C>T (p.Gln943Ter)
c.3085C>T (p.Gln1029Ter)
c.3043C>T (p.Gln1015Ter)
c.2908C>T (p.Gln970Ter)
c.3040C>T (p.Gln1014Ter)
n.329+2969G>A
 dbSNP
6g.33443638A>CCA363631029SYNGAP1,SYNGAP1-AS1c.2828A>C (p.Gln943Pro)
c.3086A>C (p.Gln1029Pro)
c.3044A>C (p.Gln1015Pro)
c.2909A>C (p.Gln970Pro)
c.3041A>C (p.Gln1014Pro)
n.329+2968T>G
6g.33443638A>GCA363631034SYNGAP1,SYNGAP1-AS1c.2828A>G (p.Gln943Arg)
c.3086A>G (p.Gln1029Arg)
c.3044A>G (p.Gln1015Arg)
c.2909A>G (p.Gln970Arg)
c.3041A>G (p.Gln1014Arg)
n.329+2968T>C
6g.33443638A>TCA363631026SYNGAP1,SYNGAP1-AS1c.2828A>T (p.Gln943Leu)
c.3086A>T (p.Gln1029Leu)
c.3044A>T (p.Gln1015Leu)
c.2909A>T (p.Gln970Leu)
c.3041A>T (p.Gln1014Leu)
n.329+2968T>A
6g.33443639G>ACA450104235SYNGAP1,SYNGAP1-AS1c.2829G>A (p.Gln943=)
c.3087G>A (p.Gln1029=)
c.3045G>A (p.Gln1015=)
c.2910G>A (p.Gln970=)
c.3042G>A (p.Gln1014=)
n.329+2967C>T
6g.33443639G>CCA363631039SYNGAP1,SYNGAP1-AS1c.2829G>C (p.Gln943His)
c.3087G>C (p.Gln1029His)
c.3045G>C (p.Gln1015His)
c.2910G>C (p.Gln970His)
c.3042G>C (p.Gln1014His)
n.329+2967C>G
6g.33443639G=CA1620014718SYNGAP1,SYNGAP1-AS1c.2829G= (p.Gln943=)
c.3087G= (p.Gln1029=)
c.3045G= (p.Gln1015=)
c.2910G= (p.Gln970=)
c.3042G= (p.Gln1014=)
n.329+2967C=
6g.33443639G>TCA363631042SYNGAP1,SYNGAP1-AS1c.2829G>T (p.Gln943His)
c.3087G>T (p.Gln1029His)
c.3045G>T (p.Gln1015His)
c.2910G>T (p.Gln970His)
c.3042G>T (p.Gln1014His)
n.329+2967C>A
 dbSNP
6g.33443640C>ACA363631044SYNGAP1,SYNGAP1-AS1c.2830C>A (p.His944Asn)
c.3088C>A (p.His1030Asn)
c.3046C>A (p.His1016Asn)
c.2911C>A (p.His971Asn)
c.3043C>A (p.His1015Asn)
n.329+2966G>T
6g.33443640C>GCA363631046SYNGAP1,SYNGAP1-AS1c.2830C>G (p.His944Asp)
c.3088C>G (p.His1030Asp)
c.3046C>G (p.His1016Asp)
c.2911C>G (p.His971Asp)
c.3043C>G (p.His1015Asp)
n.329+2966G>C
 gnomAD v4
6g.33443640C>TCA363631049SYNGAP1,SYNGAP1-AS1c.2830C>T (p.His944Tyr)
c.3088C>T (p.His1030Tyr)
c.3046C>T (p.His1016Tyr)
c.2911C>T (p.His971Tyr)
c.3043C>T (p.His1015Tyr)
n.329+2966G>A
 dbSNP
6g.33443641A>CCA363631071SYNGAP1,SYNGAP1-AS1c.2831A>C (p.His944Pro)
c.3089A>C (p.His1030Pro)
c.3047A>C (p.His1016Pro)
c.2912A>C (p.His971Pro)
c.3044A>C (p.His1015Pro)
n.329+2965T>G
6g.33443641A>GCA363631066SYNGAP1,SYNGAP1-AS1c.2831A>G (p.His944Arg)
c.3089A>G (p.His1030Arg)
c.3047A>G (p.His1016Arg)
c.2912A>G (p.His971Arg)
c.3044A>G (p.His1015Arg)
n.329+2965T>C
6g.33443641A>TCA363631062SYNGAP1,SYNGAP1-AS1c.2831A>T (p.His944Leu)
c.3089A>T (p.His1030Leu)
c.3047A>T (p.His1016Leu)
c.2912A>T (p.His971Leu)
c.3044A>T (p.His1015Leu)
n.329+2965T>A
6g.33443642C>ACA363631076SYNGAP1,SYNGAP1-AS1c.2832C>A (p.His944Gln)
c.3090C>A (p.His1030Gln)
c.3048C>A (p.His1016Gln)
c.2913C>A (p.His971Gln)
c.3045C>A (p.His1015Gln)
n.329+2964G>T
6g.33443642C=CA1620014719SYNGAP1,SYNGAP1-AS1c.2832C= (p.His944=)
c.3090C= (p.His1030=)
c.3048C= (p.His1016=)
c.2913C= (p.His971=)
c.3045C= (p.His1015=)
n.329+2964G=
6g.33443642C>GCA363631078SYNGAP1,SYNGAP1-AS1c.2832C>G (p.His944Gln)
c.3090C>G (p.His1030Gln)
c.3048C>G (p.His1016Gln)
c.2913C>G (p.His971Gln)
c.3045C>G (p.His1015Gln)
n.329+2964G>C
6g.33443642C>TCA3758983SYNGAP1,SYNGAP1-AS1c.2832C>T (p.His944=)
c.3090C>T (p.His1030=)
c.3048C>T (p.His1016=)
c.2913C>T (p.His971=)
c.3045C>T (p.His1015=)
n.329+2964G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33443643A=CA1620014720SYNGAP1,SYNGAP1-AS1c.2833A= (p.Met945=)
c.3091A= (p.Met1031=)
c.3049A= (p.Met1017=)
c.2914A= (p.Met972=)
c.3046A= (p.Met1016=)
n.329+2963T=
6g.33443643A>CCA363631088SYNGAP1,SYNGAP1-AS1c.2833A>C (p.Met945Leu)
c.3091A>C (p.Met1031Leu)
c.3049A>C (p.Met1017Leu)
c.2914A>C (p.Met972Leu)
c.3046A>C (p.Met1016Leu)
n.329+2963T>G
6g.33443643A>GCA363631101SYNGAP1,SYNGAP1-AS1c.2833A>G (p.Met945Val)
c.3091A>G (p.Met1031Val)
c.3049A>G (p.Met1017Val)
c.2914A>G (p.Met972Val)
c.3046A>G (p.Met1016Val)
n.329+2963T>C
 dbSNP gnomAD v2 gnomAD v4
6g.33443643A>TCA363631105SYNGAP1,SYNGAP1-AS1c.2833A>T (p.Met945Leu)
c.3091A>T (p.Met1031Leu)
c.3049A>T (p.Met1017Leu)
c.2914A>T (p.Met972Leu)
c.3046A>T (p.Met1016Leu)
n.329+2963T>A
6g.33443644T>ACA363631107SYNGAP1,SYNGAP1-AS1c.2834T>A (p.Met945Lys)
c.3092T>A (p.Met1031Lys)
c.3050T>A (p.Met1017Lys)
c.2915T>A (p.Met972Lys)
c.3047T>A (p.Met1016Lys)
n.329+2962A>T
6g.33443644T>CCA363631112SYNGAP1,SYNGAP1-AS1c.2834T>C (p.Met945Thr)
c.3092T>C (p.Met1031Thr)
c.3050T>C (p.Met1017Thr)
c.2915T>C (p.Met972Thr)
c.3047T>C (p.Met1016Thr)
n.329+2962A>G
 ClinVar dbSNP gnomAD v4
6g.33443644T>GCA363631110SYNGAP1,SYNGAP1-AS1c.2834T>G (p.Met945Arg)
c.3092T>G (p.Met1031Arg)
c.3050T>G (p.Met1017Arg)
c.2915T>G (p.Met972Arg)
c.3047T>G (p.Met1016Arg)
n.329+2962A>C
6g.33443644T=CA1620014721SYNGAP1,SYNGAP1-AS1c.2834T= (p.Met945=)
c.3092T= (p.Met1031=)
c.3050T= (p.Met1017=)
c.2915T= (p.Met972=)
c.3047T= (p.Met1016=)
n.329+2962A=
6g.33443645G>ACA363631115SYNGAP1,SYNGAP1-AS1c.2835G>A (p.Met945Ile)
c.3093G>A (p.Met1031Ile)
c.3051G>A (p.Met1017Ile)
c.2916G>A (p.Met972Ile)
c.3048G>A (p.Met1016Ile)
n.329+2961C>T
6g.33443645G>CCA363631117SYNGAP1,SYNGAP1-AS1c.2835G>C (p.Met945Ile)
c.3093G>C (p.Met1031Ile)
c.3051G>C (p.Met1017Ile)
c.2916G>C (p.Met972Ile)
c.3048G>C (p.Met1016Ile)
n.329+2961C>G
6g.33443645G>TCA363631121SYNGAP1,SYNGAP1-AS1c.2835G>T (p.Met945Ile)
c.3093G>T (p.Met1031Ile)
c.3051G>T (p.Met1017Ile)
c.2916G>T (p.Met972Ile)
c.3048G>T (p.Met1016Ile)
n.329+2961C>A
6g.33443646C>ACA363631129SYNGAP1,SYNGAP1-AS1c.2836C>A (p.Leu946Met)
c.3094C>A (p.Leu1032Met)
c.3052C>A (p.Leu1018Met)
c.2917C>A (p.Leu973Met)
c.3049C>A (p.Leu1017Met)
n.329+2960G>T
6g.33443646C>GCA363631132SYNGAP1,SYNGAP1-AS1c.2836C>G (p.Leu946Val)
c.3094C>G (p.Leu1032Val)
c.3052C>G (p.Leu1018Val)
c.2917C>G (p.Leu973Val)
c.3049C>G (p.Leu1017Val)
n.329+2960G>C
6g.33443646C>TCA450104236SYNGAP1,SYNGAP1-AS1c.2836C>T (p.Leu946=)
c.3094C>T (p.Leu1032=)
c.3052C>T (p.Leu1018=)
c.2917C>T (p.Leu973=)
c.3049C>T (p.Leu1017=)
n.329+2960G>A
6g.33443647T>ACA363631139SYNGAP1,SYNGAP1-AS1c.2837T>A (p.Leu946Gln)
c.3095T>A (p.Leu1032Gln)
c.3053T>A (p.Leu1018Gln)
c.2918T>A (p.Leu973Gln)
c.3050T>A (p.Leu1017Gln)
n.329+2959A>T
6g.33443647T>CCA363631145SYNGAP1,SYNGAP1-AS1c.2837T>C (p.Leu946Pro)
c.3095T>C (p.Leu1032Pro)
c.3053T>C (p.Leu1018Pro)
c.2918T>C (p.Leu973Pro)
c.3050T>C (p.Leu1017Pro)
n.329+2959A>G
6g.33443647T>GCA363631147SYNGAP1,SYNGAP1-AS1c.2837T>G (p.Leu946Arg)
c.3095T>G (p.Leu1032Arg)
c.3053T>G (p.Leu1018Arg)
c.2918T>G (p.Leu973Arg)
c.3050T>G (p.Leu1017Arg)
n.329+2959A>C
6g.33443648G>ACA450104237SYNGAP1,SYNGAP1-AS1c.2838G>A (p.Leu946=)
c.3096G>A (p.Leu1032=)
c.3054G>A (p.Leu1018=)
c.2919G>A (p.Leu973=)
c.3051G>A (p.Leu1017=)
n.329+2958C>T
6g.33443648G>CCA450104239SYNGAP1,SYNGAP1-AS1c.2838G>C (p.Leu946=)
c.3096G>C (p.Leu1032=)
c.3054G>C (p.Leu1018=)
c.2919G>C (p.Leu973=)
c.3051G>C (p.Leu1017=)
n.329+2958C>G
 gnomAD v4
6g.33443648G>TCA450104238SYNGAP1,SYNGAP1-AS1c.2838G>T (p.Leu946=)
c.3096G>T (p.Leu1032=)
c.3054G>T (p.Leu1018=)
c.2919G>T (p.Leu973=)
c.3051G>T (p.Leu1017=)
n.329+2958C>A
6g.33443649T>ACA363631148SYNGAP1,SYNGAP1-AS1c.2839T>A (p.Ser947Thr)
c.3097T>A (p.Ser1033Thr)
c.3055T>A (p.Ser1019Thr)
c.2920T>A (p.Ser974Thr)
c.3052T>A (p.Ser1018Thr)
n.329+2957A>T
6g.33443649T>CCA363631149SYNGAP1,SYNGAP1-AS1c.2839T>C (p.Ser947Pro)
c.3097T>C (p.Ser1033Pro)
c.3055T>C (p.Ser1019Pro)
c.2920T>C (p.Ser974Pro)
c.3052T>C (p.Ser1018Pro)
n.329+2957A>G
6g.33443649T>GCA363631150SYNGAP1,SYNGAP1-AS1c.2839T>G (p.Ser947Ala)
c.3097T>G (p.Ser1033Ala)
c.3055T>G (p.Ser1019Ala)
c.2920T>G (p.Ser974Ala)
c.3052T>G (p.Ser1018Ala)
n.329+2957A>C
6g.33443650C>ACA363631156SYNGAP1,SYNGAP1-AS1c.2840C>A (p.Ser947Tyr)
c.3098C>A (p.Ser1033Tyr)
c.3056C>A (p.Ser1019Tyr)
c.2921C>A (p.Ser974Tyr)
c.3053C>A (p.Ser1018Tyr)
n.329+2956G>T
 gnomAD v4
6g.33443650C>GCA363631161SYNGAP1,SYNGAP1-AS1c.2840C>G (p.Ser947Cys)
c.3098C>G (p.Ser1033Cys)
c.3056C>G (p.Ser1019Cys)
c.2921C>G (p.Ser974Cys)
c.3053C>G (p.Ser1018Cys)
n.329+2956G>C
6g.33443650C>TCA363631152SYNGAP1,SYNGAP1-AS1c.2840C>T (p.Ser947Phe)
c.3098C>T (p.Ser1033Phe)
c.3056C>T (p.Ser1019Phe)
c.2921C>T (p.Ser974Phe)
c.3053C>T (p.Ser1018Phe)
n.329+2956G>A
6g.33443651C>ACA450104242SYNGAP1,SYNGAP1-AS1c.2841C>A (p.Ser947=)
c.3099C>A (p.Ser1033=)
c.3057C>A (p.Ser1019=)
c.2922C>A (p.Ser974=)
c.3054C>A (p.Ser1018=)
n.329+2955G>T
6g.33443651C=CA1620014722SYNGAP1,SYNGAP1-AS1c.2841C= (p.Ser947=)
c.3099C= (p.Ser1033=)
c.3057C= (p.Ser1019=)
c.2922C= (p.Ser974=)
c.3054C= (p.Ser1018=)
n.329+2955G=
6g.33443651C>GCA450104241SYNGAP1,SYNGAP1-AS1c.2841C>G (p.Ser947=)
c.3099C>G (p.Ser1033=)
c.3057C>G (p.Ser1019=)
c.2922C>G (p.Ser974=)
c.3054C>G (p.Ser1018=)
n.329+2955G>C
6g.33443651C>TCA450104240SYNGAP1,SYNGAP1-AS1c.2841C>T (p.Ser947=)
c.3099C>T (p.Ser1033=)
c.3057C>T (p.Ser1019=)
c.2922C>T (p.Ser974=)
c.3054C>T (p.Ser1018=)
n.329+2955G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33443652C>ACA363631177SYNGAP1,SYNGAP1-AS1c.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
6g.33443652C>GCA363631172SYNGAP1,SYNGAP1-AS1c.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
6g.33443652C>TCA363631179SYNGAP1,SYNGAP1-AS1c.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
6g.33443653C>ACA363631183SYNGAP1,SYNGAP1-AS1c.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
6g.33443653C>GCA363631189SYNGAP1,SYNGAP1-AS1c.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
6g.33443653C>TCA363631185SYNGAP1,SYNGAP1-AS1c.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

Number of alleles fetched