Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33432691T>ACA363680433SYNGAP1c.136T>A (p.Phe46Ile)
c.394T>A (p.Phe132Ile)
c.217T>A (p.Phe73Ile)
c.349T>A (p.Phe117Ile)
n.589T>A
6g.33432691T>CCA363680434SYNGAP1c.136T>C (p.Phe46Leu)
c.394T>C (p.Phe132Leu)
c.217T>C (p.Phe73Leu)
c.349T>C (p.Phe117Leu)
n.589T>C
 gnomAD v3 gnomAD v4
6g.33432691T>GCA363680435SYNGAP1c.136T>G (p.Phe46Val)
c.394T>G (p.Phe132Val)
c.217T>G (p.Phe73Val)
c.349T>G (p.Phe117Val)
n.589T>G
6g.33432692T>ACA363680437SYNGAP1c.137T>A (p.Phe46Tyr)
c.395T>A (p.Phe132Tyr)
c.218T>A (p.Phe73Tyr)
c.350T>A (p.Phe117Tyr)
n.590T>A
6g.33432692T>CCA363680439SYNGAP1c.137T>C (p.Phe46Ser)
c.395T>C (p.Phe132Ser)
c.218T>C (p.Phe73Ser)
c.350T>C (p.Phe117Ser)
n.590T>C
6g.33432692T>GCA363680441SYNGAP1c.137T>G (p.Phe46Cys)
c.395T>G (p.Phe132Cys)
c.218T>G (p.Phe73Cys)
c.350T>G (p.Phe117Cys)
n.590T>G
6g.33432693C>ACA363680443SYNGAP1c.138C>A (p.Phe46Leu)
c.396C>A (p.Phe132Leu)
c.219C>A (p.Phe73Leu)
c.351C>A (p.Phe117Leu)
n.591C>A
6g.33432693C>GCA363680444SYNGAP1c.138C>G (p.Phe46Leu)
c.396C>G (p.Phe132Leu)
c.219C>G (p.Phe73Leu)
c.351C>G (p.Phe117Leu)
n.591C>G
6g.33432693C>TCA449860180SYNGAP1c.138C>T (p.Phe46=)
c.396C>T (p.Phe132=)
c.219C>T (p.Phe73=)
c.351C>T (p.Phe117=)
n.591C>T
 COSMIC COSMIC
6g.33432694_33432724dupCA2770571985SYNGAP1c.139_169dup (p.Arg57ProfsTer19)
c.397_427dup (p.Arg143ProfsTer19)
c.220_250dup (p.Arg84ProfsTer19)
c.352_382dup (p.Arg128ProfsTer19)
n.592_622dup
6g.33432694C>ACA3758492SYNGAP1c.139C>A (p.Leu47Met)
c.397C>A (p.Leu133Met)
c.220C>A (p.Leu74Met)
c.352C>A (p.Leu118Met)
n.592C>A
 dbSNP ExAC gnomAD v2
6g.33432694C=CA1620010173SYNGAP1c.139C= (p.Leu47=)
c.397C= (p.Leu133=)
c.220C= (p.Leu74=)
c.352C= (p.Leu118=)
n.592C=
6g.33432694C>GCA363680448SYNGAP1c.139C>G (p.Leu47Val)
c.397C>G (p.Leu133Val)
c.220C>G (p.Leu74Val)
c.352C>G (p.Leu118Val)
n.592C>G
6g.33432694C>TCA449860183SYNGAP1c.139C>T (p.Leu47=)
c.397C>T (p.Leu133=)
c.220C>T (p.Leu74=)
c.352C>T (p.Leu118=)
n.592C>T
 dbSNP
6g.33432695T>ACA363680450SYNGAP1c.140T>A (p.Leu47Gln)
c.398T>A (p.Leu133Gln)
c.221T>A (p.Leu74Gln)
c.353T>A (p.Leu118Gln)
n.593T>A
6g.33432695T>CCA363680451SYNGAP1c.140T>C (p.Leu47Pro)
c.398T>C (p.Leu133Pro)
c.221T>C (p.Leu74Pro)
c.353T>C (p.Leu118Pro)
n.593T>C
6g.33432695T>GCA363680453SYNGAP1c.140T>G (p.Leu47Arg)
c.398T>G (p.Leu133Arg)
c.221T>G (p.Leu74Arg)
c.353T>G (p.Leu118Arg)
n.593T>G
6g.33432696G>ACA449860186SYNGAP1c.141G>A (p.Leu47=)
c.399G>A (p.Leu133=)
c.222G>A (p.Leu74=)
c.354G>A (p.Leu118=)
n.594G>A
6g.33432696G>CCA449860187SYNGAP1c.141G>C (p.Leu47=)
c.399G>C (p.Leu133=)
c.222G>C (p.Leu74=)
c.354G>C (p.Leu118=)
n.594G>C
6g.33432696G>TCA449860189SYNGAP1c.141G>T (p.Leu47=)
c.399G>T (p.Leu133=)
c.222G>T (p.Leu74=)
c.354G>T (p.Leu118=)
n.594G>T
6g.33432697A>CCA363680459SYNGAP1c.142A>C (p.Ser48Arg)
c.400A>C (p.Ser134Arg)
c.223A>C (p.Ser75Arg)
c.355A>C (p.Ser119Arg)
n.595A>C
6g.33432697A>GCA363680455SYNGAP1c.142A>G (p.Ser48Gly)
c.400A>G (p.Ser134Gly)
c.223A>G (p.Ser75Gly)
c.355A>G (p.Ser119Gly)
n.595A>G
6g.33432697A>TCA363680457SYNGAP1c.142A>T (p.Ser48Cys)
c.400A>T (p.Ser134Cys)
c.223A>T (p.Ser75Cys)
c.355A>T (p.Ser119Cys)
n.595A>T
6g.33432698G>ACA363680461SYNGAP1c.143G>A (p.Ser48Asn)
c.401G>A (p.Ser134Asn)
c.224G>A (p.Ser75Asn)
c.356G>A (p.Ser119Asn)
n.596G>A
 ClinVar
6g.33432698G>CCA363680463SYNGAP1c.143G>C (p.Ser48Thr)
c.401G>C (p.Ser134Thr)
c.224G>C (p.Ser75Thr)
c.356G>C (p.Ser119Thr)
n.596G>C
 dbSNP gnomAD v3 gnomAD v4
6g.33432698G=CA1620010174SYNGAP1c.143G= (p.Ser48=)
c.401G= (p.Ser134=)
c.224G= (p.Ser75=)
c.356G= (p.Ser119=)
n.596G=
6g.33432698G>TCA363680465SYNGAP1c.143G>T (p.Ser48Ile)
c.401G>T (p.Ser134Ile)
c.224G>T (p.Ser75Ile)
c.356G>T (p.Ser119Ile)
n.596G>T
6g.33432699C>ACA363680467SYNGAP1c.144C>A (p.Ser48Arg)
c.402C>A (p.Ser134Arg)
c.225C>A (p.Ser75Arg)
c.357C>A (p.Ser119Arg)
n.597C>A
 COSMIC COSMIC
6g.33432699C>GCA363680469SYNGAP1c.144C>G (p.Ser48Arg)
c.402C>G (p.Ser134Arg)
c.225C>G (p.Ser75Arg)
c.357C>G (p.Ser119Arg)
n.597C>G
6g.33432699C>TCA449860198SYNGAP1c.144C>T (p.Ser48=)
c.402C>T (p.Ser134=)
c.225C>T (p.Ser75=)
c.357C>T (p.Ser119=)
n.597C>T
 gnomAD v4
6g.33432700C>ACA449860199SYNGAP1c.145C>A (p.Arg49=)
c.403C>A (p.Arg135=)
c.226C>A (p.Arg76=)
c.358C>A (p.Arg120=)
n.598C>A
6g.33432700C=CA1620010175SYNGAP1c.145C= (p.Arg49=)
c.403C= (p.Arg135=)
c.226C= (p.Arg76=)
c.358C= (p.Arg120=)
n.598C=
6g.33432700C>GCA363680471SYNGAP1c.145C>G (p.Arg49Gly)
c.403C>G (p.Arg135Gly)
c.226C>G (p.Arg76Gly)
c.358C>G (p.Arg120Gly)
n.598C>G
6g.33432700C>TCA363680472SYNGAP1c.145C>T (p.Arg49Ter)
c.403C>T (p.Arg135Ter)
c.226C>T (p.Arg76Ter)
c.358C>T (p.Arg120Ter)
n.598C>T
 ClinVar dbSNP gnomAD v2
6g.33432701G>ACA363680475SYNGAP1c.146G>A (p.Arg49Gln)
c.404G>A (p.Arg135Gln)
c.227G>A (p.Arg76Gln)
c.359G>A (p.Arg120Gln)
n.599G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432701G>CCA363680477SYNGAP1c.146G>C (p.Arg49Pro)
c.404G>C (p.Arg135Pro)
c.227G>C (p.Arg76Pro)
c.359G>C (p.Arg120Pro)
n.599G>C
6g.33432701G=CA1620010176SYNGAP1c.146G= (p.Arg49=)
c.404G= (p.Arg135=)
c.227G= (p.Arg76=)
c.359G= (p.Arg120=)
n.599G=
6g.33432701G>TCA363680479SYNGAP1c.146G>T (p.Arg49Leu)
c.404G>T (p.Arg135Leu)
c.227G>T (p.Arg76Leu)
c.359G>T (p.Arg120Leu)
n.599G>T
6g.33432701_33432707delCA2697553286SYNGAP1c.146_152del (p.Arg49GlnfsTer?)
c.404_410del (p.Arg135GlnfsTer?)
c.227_233del (p.Arg76GlnfsTer?)
c.359_365del (p.Arg120GlnfsTer?)
n.599_605del
 ClinVar
6g.33432702A>CCA449860207SYNGAP1c.147A>C (p.Arg49=)
c.405A>C (p.Arg135=)
c.228A>C (p.Arg76=)
c.360A>C (p.Arg120=)
n.600A>C
6g.33432702A>GCA449860208SYNGAP1c.147A>G (p.Arg49=)
c.405A>G (p.Arg135=)
c.228A>G (p.Arg76=)
c.360A>G (p.Arg120=)
n.600A>G
6g.33432702A>TCA449860205SYNGAP1c.147A>T (p.Arg49=)
c.405A>T (p.Arg135=)
c.228A>T (p.Arg76=)
c.360A>T (p.Arg120=)
n.600A>T
 gnomAD v4
6g.33432703C>ACA449860211SYNGAP1c.148C>A (p.Arg50=)
c.406C>A (p.Arg136=)
c.229C>A (p.Arg77=)
c.361C>A (p.Arg121=)
n.601C>A
 dbSNP gnomAD v4
6g.33432703C=CA1620010177SYNGAP1c.148C= (p.Arg50=)
c.406C= (p.Arg136=)
c.229C= (p.Arg77=)
c.361C= (p.Arg121=)
n.601C=
6g.33432703C>GCA363680481SYNGAP1c.148C>G (p.Arg50Gly)
c.406C>G (p.Arg136Gly)
c.229C>G (p.Arg77Gly)
c.361C>G (p.Arg121Gly)
n.601C>G
6g.33432703C>TCA363680483SYNGAP1c.148C>T (p.Arg50Trp)
c.406C>T (p.Arg136Trp)
c.229C>T (p.Arg77Trp)
c.361C>T (p.Arg121Trp)
n.601C>T
 ClinVar dbSNP COSMIC COSMIC
6g.33432703dupCA2739289875SYNGAP1c.148dup (p.Arg50ProfsTer16)
c.406dup (p.Arg136ProfsTer16)
c.229dup (p.Arg77ProfsTer16)
c.361dup (p.Arg121ProfsTer16)
n.601dup
6g.33432704G>ACA3758493SYNGAP1c.149G>A (p.Arg50Gln)
c.407G>A (p.Arg136Gln)
c.230G>A (p.Arg77Gln)
c.362G>A (p.Arg121Gln)
n.602G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33432704G>CCA363680487SYNGAP1c.149G>C (p.Arg50Pro)
c.407G>C (p.Arg136Pro)
c.230G>C (p.Arg77Pro)
c.362G>C (p.Arg121Pro)
n.602G>C
 ClinVar dbSNP
6g.33432704G=CA1620010178SYNGAP1c.149G= (p.Arg50=)
c.407G= (p.Arg136=)
c.230G= (p.Arg77=)
c.362G= (p.Arg121=)
n.602G=

Number of alleles fetched