Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33432728_33432731delCA658761546SYNGAP1c.173_176del (p.Thr58SerfsTer29)
c.431_434del (p.Thr144SerfsTer29)
c.254_257del (p.Thr85SerfsTer29)
c.386_389del (p.Thr129SerfsTer29)
n.626_629del
6g.33432726A=CA1620010188SYNGAP1c.171A= (p.Arg57=)
c.429A= (p.Arg143=)
c.252A= (p.Arg84=)
c.384A= (p.Arg128=)
n.624A=
6g.33432726A>CCA449860282SYNGAP1c.171A>C (p.Arg57=)
c.429A>C (p.Arg143=)
c.252A>C (p.Arg84=)
c.384A>C (p.Arg128=)
n.624A>C
 gnomAD v4
6g.33432726A>GCA449860283SYNGAP1c.171A>G (p.Arg57=)
c.429A>G (p.Arg143=)
c.252A>G (p.Arg84=)
c.384A>G (p.Arg128=)
n.624A>G
 dbSNP gnomAD v2 gnomAD v4
6g.33432726A>TCA449860285SYNGAP1c.171A>T (p.Arg57=)
c.429A>T (p.Arg143=)
c.252A>T (p.Arg84=)
c.384A>T (p.Arg128=)
n.624A>T
6g.33432727A>CCA363680584SYNGAP1c.172A>C (p.Thr58Pro)
c.430A>C (p.Thr144Pro)
c.253A>C (p.Thr85Pro)
c.385A>C (p.Thr129Pro)
n.625A>C
6g.33432727A>GCA363680585SYNGAP1c.172A>G (p.Thr58Ala)
c.430A>G (p.Thr144Ala)
c.253A>G (p.Thr85Ala)
c.385A>G (p.Thr129Ala)
n.625A>G
6g.33432727A>TCA363680587SYNGAP1c.172A>T (p.Thr58Ser)
c.430A>T (p.Thr144Ser)
c.253A>T (p.Thr85Ser)
c.385A>T (p.Thr129Ser)
n.625A>T
6g.33432728C>ACA363680589SYNGAP1c.173C>A (p.Thr58Lys)
c.431C>A (p.Thr144Lys)
c.254C>A (p.Thr85Lys)
c.386C>A (p.Thr129Lys)
n.626C>A
6g.33432728C=CA1620010189SYNGAP1c.173C= (p.Thr58=)
c.431C= (p.Thr144=)
c.254C= (p.Thr85=)
c.386C= (p.Thr129=)
n.626C=
6g.33432728C>GCA363680591SYNGAP1c.173C>G (p.Thr58Arg)
c.431C>G (p.Thr144Arg)
c.254C>G (p.Thr85Arg)
c.386C>G (p.Thr129Arg)
n.626C>G
6g.33432728C>TCA363680593SYNGAP1c.173C>T (p.Thr58Met)
c.431C>T (p.Thr144Met)
c.254C>T (p.Thr85Met)
c.386C>T (p.Thr129Met)
n.626C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33432729G>ACA3758494SYNGAP1c.174G>A (p.Thr58=)
c.432G>A (p.Thr144=)
c.255G>A (p.Thr85=)
c.387G>A (p.Thr129=)
n.627G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33432729G>CCA449860293SYNGAP1c.174G>C (p.Thr58=)
c.432G>C (p.Thr144=)
c.255G>C (p.Thr85=)
c.387G>C (p.Thr129=)
n.627G>C
6g.33432729G=CA1620010190SYNGAP1c.174G= (p.Thr58=)
c.432G= (p.Thr144=)
c.255G= (p.Thr85=)
c.387G= (p.Thr129=)
n.627G=
6g.33432729G>TCA449860296SYNGAP1c.174G>T (p.Thr58=)
c.432G>T (p.Thr144=)
c.255G>T (p.Thr85=)
c.387G>T (p.Thr129=)
n.627G>T
6g.33432730A=CA1620010191SYNGAP1c.175A= (p.Lys59=)
c.433A= (p.Lys145=)
c.256A= (p.Lys86=)
c.388A= (p.Lys130=)
n.628A=
6g.33432730A>CCA363680596SYNGAP1c.175A>C (p.Lys59Gln)
c.433A>C (p.Lys145Gln)
c.256A>C (p.Lys86Gln)
c.388A>C (p.Lys130Gln)
n.628A>C
6g.33432730A>GCA363680598SYNGAP1c.175A>G (p.Lys59Glu)
c.433A>G (p.Lys145Glu)
c.256A>G (p.Lys86Glu)
c.388A>G (p.Lys130Glu)
n.628A>G
6g.33432730A>TCA363680600SYNGAP1c.175A>T (p.Lys59Ter)
c.433A>T (p.Lys145Ter)
c.256A>T (p.Lys86Ter)
c.388A>T (p.Lys130Ter)
n.628A>T
 dbSNP
6g.33432732_33432744dupCA658760371SYNGAP1c.177_189dup (p.Leu64ValfsTer6)
c.435_447dup (p.Leu150ValfsTer6)
c.258_270dup (p.Leu91ValfsTer6)
c.390_402dup (p.Leu135ValfsTer6)
n.630_642dup
 ClinVar dbSNP
6g.33432731_33432744dupCA2580074390SYNGAP1c.176_189dup (p.Leu64SerfsTer29)
c.434_447dup (p.Leu150SerfsTer29)
c.257_270dup (p.Leu91SerfsTer29)
c.389_402dup (p.Leu135SerfsTer29)
n.629_642dup
 ClinVar
6g.33432731A=CA1620010192SYNGAP1c.176A= (p.Lys59=)
c.434A= (p.Lys145=)
c.257A= (p.Lys86=)
c.389A= (p.Lys130=)
n.629A=
6g.33432731A>CCA363680606SYNGAP1c.176A>C (p.Lys59Thr)
c.434A>C (p.Lys145Thr)
c.257A>C (p.Lys86Thr)
c.389A>C (p.Lys130Thr)
n.629A>C
6g.33432731A>GCA363680605SYNGAP1c.176A>G (p.Lys59Arg)
c.434A>G (p.Lys145Arg)
c.257A>G (p.Lys86Arg)
c.389A>G (p.Lys130Arg)
n.629A>G
 dbSNP gnomAD v3 gnomAD v4
6g.33432731A>TCA363680602SYNGAP1c.176A>T (p.Lys59Met)
c.434A>T (p.Lys145Met)
c.257A>T (p.Lys86Met)
c.389A>T (p.Lys130Met)
n.629A>T
6g.33432732G>ACA449860302SYNGAP1c.177G>A (p.Lys59=)
c.435G>A (p.Lys145=)
c.258G>A (p.Lys86=)
c.390G>A (p.Lys130=)
n.630G>A
6g.33432732G>CCA363680609SYNGAP1c.177G>C (p.Lys59Asn)
c.435G>C (p.Lys145Asn)
c.258G>C (p.Lys86Asn)
c.390G>C (p.Lys130Asn)
n.630G>C
6g.33432732G>TCA363680611SYNGAP1c.177G>T (p.Lys59Asn)
c.435G>T (p.Lys145Asn)
c.258G>T (p.Lys86Asn)
c.390G>T (p.Lys130Asn)
n.630G>T
6g.33432733T>ACA363680613SYNGAP1c.178T>A (p.Ser60Thr)
c.436T>A (p.Ser146Thr)
c.259T>A (p.Ser87Thr)
c.391T>A (p.Ser131Thr)
n.631T>A
6g.33432733T>CCA363680617SYNGAP1c.178T>C (p.Ser60Pro)
c.436T>C (p.Ser146Pro)
c.259T>C (p.Ser87Pro)
c.391T>C (p.Ser131Pro)
n.631T>C
6g.33432733T>GCA363680616SYNGAP1c.178T>G (p.Ser60Ala)
c.436T>G (p.Ser146Ala)
c.259T>G (p.Ser87Ala)
c.391T>G (p.Ser131Ala)
n.631T>G
6g.33432734C>ACA363680620SYNGAP1c.179C>A (p.Ser60Ter)
c.437C>A (p.Ser146Ter)
c.260C>A (p.Ser87Ter)
c.392C>A (p.Ser131Ter)
n.632C>A
6g.33432734C>GCA363680622SYNGAP1c.179C>G (p.Ser60Ter)
c.437C>G (p.Ser146Ter)
c.260C>G (p.Ser87Ter)
c.392C>G (p.Ser131Ter)
n.632C>G
6g.33432734C>TCA363680623SYNGAP1c.179C>T (p.Ser60Leu)
c.437C>T (p.Ser146Leu)
c.260C>T (p.Ser87Leu)
c.392C>T (p.Ser131Leu)
n.632C>T
6g.33432736_33432737delCA2557288211SYNGAP1c.181_182del (p.Gln61ThrfsTer4)
c.439_440del (p.Gln147ThrfsTer4)
c.262_263del (p.Gln88ThrfsTer4)
c.394_395del (p.Gln132ThrfsTer4)
n.634_635del
6g.33432735_33432745dupCA2580074391SYNGAP1c.180_190dup (p.Leu64HisfsTer28)
c.438_448dup (p.Leu150HisfsTer28)
c.261_271dup (p.Leu91HisfsTer28)
c.393_403dup (p.Leu135HisfsTer28)
n.633_643dup
 ClinVar
6g.33432735A>CCA449860324SYNGAP1c.180A>C (p.Ser60=)
c.438A>C (p.Ser146=)
c.261A>C (p.Ser87=)
c.393A>C (p.Ser131=)
n.633A>C
6g.33432735A>GCA449860320SYNGAP1c.180A>G (p.Ser60=)
c.438A>G (p.Ser146=)
c.261A>G (p.Ser87=)
c.393A>G (p.Ser131=)
n.633A>G
 gnomAD v4
6g.33432735A>TCA449860322SYNGAP1c.180A>T (p.Ser60=)
c.438A>T (p.Ser146=)
c.261A>T (p.Ser87=)
c.393A>T (p.Ser131=)
n.633A>T
6g.33432736C>ACA363680625SYNGAP1c.181C>A (p.Gln61Lys)
c.439C>A (p.Gln147Lys)
c.262C>A (p.Gln88Lys)
c.394C>A (p.Gln132Lys)
n.634C>A
6g.33432736C=CA1620010193SYNGAP1c.181C= (p.Gln61=)
c.439C= (p.Gln147=)
c.262C= (p.Gln88=)
c.394C= (p.Gln132=)
n.634C=
6g.33432736C>GCA363680627SYNGAP1c.181C>G (p.Gln61Glu)
c.439C>G (p.Gln147Glu)
c.262C>G (p.Gln88Glu)
c.394C>G (p.Gln132Glu)
n.634C>G
6g.33432736C>TCA363680629SYNGAP1c.181C>T (p.Gln61Ter)
c.439C>T (p.Gln147Ter)
c.262C>T (p.Gln88Ter)
c.394C>T (p.Gln132Ter)
n.634C>T
 dbSNP
6g.33432737A>CCA363680632SYNGAP1c.182A>C (p.Gln61Pro)
c.440A>C (p.Gln147Pro)
c.263A>C (p.Gln88Pro)
c.395A>C (p.Gln132Pro)
n.635A>C
6g.33432737A>GCA363680633SYNGAP1c.182A>G (p.Gln61Arg)
c.440A>G (p.Gln147Arg)
c.263A>G (p.Gln88Arg)
c.395A>G (p.Gln132Arg)
n.635A>G
6g.33432737A>TCA363680635SYNGAP1c.182A>T (p.Gln61Leu)
c.440A>T (p.Gln147Leu)
c.263A>T (p.Gln88Leu)
c.395A>T (p.Gln132Leu)
n.635A>T
6g.33432738A=CA1620010194SYNGAP1c.183A= (p.Gln61=)
c.441A= (p.Gln147=)
c.264A= (p.Gln88=)
c.396A= (p.Gln132=)
n.636A=
6g.33432738A>CCA363680637SYNGAP1c.183A>C (p.Gln61His)
c.441A>C (p.Gln147His)
c.264A>C (p.Gln88His)
c.396A>C (p.Gln132His)
n.636A>C
6g.33432738A>GCA449860340SYNGAP1c.183A>G (p.Gln61=)
c.441A>G (p.Gln147=)
c.264A>G (p.Gln88=)
c.396A>G (p.Gln132=)
n.636A>G
6g.33432738A>TCA363680639SYNGAP1c.183A>T (p.Gln61His)
c.441A>T (p.Gln147His)
c.264A>T (p.Gln88His)
c.396A>T (p.Gln132His)
n.636A>T
 dbSNP
6g.33432739C>ACA363680645SYNGAP1c.184C>A (p.Pro62Thr)
c.442C>A (p.Pro148Thr)
c.265C>A (p.Pro89Thr)
c.397C>A (p.Pro133Thr)
n.637C>A
6g.33432739C>GCA363680643SYNGAP1c.184C>G (p.Pro62Ala)
c.442C>G (p.Pro148Ala)
c.265C>G (p.Pro89Ala)
c.397C>G (p.Pro133Ala)
n.637C>G
 gnomAD v4
6g.33432739C>TCA363680642SYNGAP1c.184C>T (p.Pro62Ser)
c.442C>T (p.Pro148Ser)
c.265C>T (p.Pro89Ser)
c.397C>T (p.Pro133Ser)
n.637C>T
 gnomAD v4
6g.33432740C>ACA363680648SYNGAP1c.185C>A (p.Pro62His)
c.443C>A (p.Pro148His)
c.266C>A (p.Pro89His)
c.398C>A (p.Pro133His)
n.638C>A
6g.33432740C>GCA363680650SYNGAP1c.185C>G (p.Pro62Arg)
c.443C>G (p.Pro148Arg)
c.266C>G (p.Pro89Arg)
c.398C>G (p.Pro133Arg)
n.638C>G
6g.33432740C>TCA363680652SYNGAP1c.185C>T (p.Pro62Leu)
c.443C>T (p.Pro148Leu)
c.266C>T (p.Pro89Leu)
c.398C>T (p.Pro133Leu)
n.638C>T
6g.33432741C>ACA449860350SYNGAP1c.186C>A (p.Pro62=)
c.444C>A (p.Pro148=)
c.267C>A (p.Pro89=)
c.399C>A (p.Pro133=)
n.639C>A
 gnomAD v3 gnomAD v4
6g.33432741C=CA1620010195SYNGAP1c.186C= (p.Pro62=)
c.444C= (p.Pro148=)
c.267C= (p.Pro89=)
c.399C= (p.Pro133=)
n.639C=
6g.33432741C>GCA449860356SYNGAP1c.186C>G (p.Pro62=)
c.444C>G (p.Pro148=)
c.267C>G (p.Pro89=)
c.399C>G (p.Pro133=)
n.639C>G
6g.33432741C>TCA449860357SYNGAP1c.186C>T (p.Pro62=)
c.444C>T (p.Pro148=)
c.267C>T (p.Pro89=)
c.399C>T (p.Pro133=)
n.639C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33432742A>CCA363680654SYNGAP1c.187A>C (p.Lys63Gln)
c.445A>C (p.Lys149Gln)
c.268A>C (p.Lys90Gln)
c.400A>C (p.Lys134Gln)
n.640A>C
6g.33432742A>GCA363680656SYNGAP1c.187A>G (p.Lys63Glu)
c.445A>G (p.Lys149Glu)
c.268A>G (p.Lys90Glu)
c.400A>G (p.Lys134Glu)
n.640A>G
6g.33432742A>TCA363680658SYNGAP1c.187A>T (p.Lys63Ter)
c.445A>T (p.Lys149Ter)
c.268A>T (p.Lys90Ter)
c.400A>T (p.Lys134Ter)
n.640A>T
6g.33432743A=CA1620010196SYNGAP1c.188A= (p.Lys63=)
c.446A= (p.Lys149=)
c.269A= (p.Lys90=)
c.401A= (p.Lys134=)
n.641A=
6g.33432743A>CCA363680660SYNGAP1c.188A>C (p.Lys63Thr)
c.446A>C (p.Lys149Thr)
c.269A>C (p.Lys90Thr)
c.401A>C (p.Lys134Thr)
n.641A>C
 dbSNP
6g.33432743A>GCA363680662SYNGAP1c.188A>G (p.Lys63Arg)
c.446A>G (p.Lys149Arg)
c.269A>G (p.Lys90Arg)
c.401A>G (p.Lys134Arg)
n.641A>G
6g.33432743A>TCA363680664SYNGAP1c.188A>T (p.Lys63Ile)
c.446A>T (p.Lys149Ile)
c.269A>T (p.Lys90Ile)
c.401A>T (p.Lys134Ile)
n.641A>T
6g.33432744A=CA1620010197SYNGAP1c.189A= (p.Lys63=)
c.447A= (p.Lys149=)
c.270A= (p.Lys90=)
c.402A= (p.Lys134=)
n.642A=
6g.33432744A>CCA363680665SYNGAP1c.189A>C (p.Lys63Asn)
c.447A>C (p.Lys149Asn)
c.270A>C (p.Lys90Asn)
c.402A>C (p.Lys134Asn)
n.642A>C
6g.33432744A>GCA3758495SYNGAP1c.189A>G (p.Lys63=)
c.447A>G (p.Lys149=)
c.270A>G (p.Lys90=)
c.402A>G (p.Lys134=)
n.642A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33432744A>TCA363680668SYNGAP1c.189A>T (p.Lys63Asn)
c.447A>T (p.Lys149Asn)
c.270A>T (p.Lys90Asn)
c.402A>T (p.Lys134Asn)
n.642A>T
6g.33432745C>ACA363680674SYNGAP1c.190C>A (p.Leu64Ile)
c.448C>A (p.Leu150Ile)
c.271C>A (p.Leu91Ile)
c.403C>A (p.Leu135Ile)
n.643C>A
6g.33432745C>GCA363680672SYNGAP1c.190C>G (p.Leu64Val)
c.448C>G (p.Leu150Val)
c.271C>G (p.Leu91Val)
c.403C>G (p.Leu135Val)
n.643C>G
6g.33432745C>TCA363680670SYNGAP1c.190C>T (p.Leu64Phe)
c.448C>T (p.Leu150Phe)
c.271C>T (p.Leu91Phe)
c.403C>T (p.Leu135Phe)
n.643C>T
6g.33432746T>ACA363680680SYNGAP1c.191T>A (p.Leu64His)
c.449T>A (p.Leu150His)
c.272T>A (p.Leu91His)
c.404T>A (p.Leu135His)
n.644T>A
6g.33432746T>CCA363680676SYNGAP1c.191T>C (p.Leu64Pro)
c.449T>C (p.Leu150Pro)
c.272T>C (p.Leu91Pro)
c.404T>C (p.Leu135Pro)
n.644T>C
6g.33432746T>GCA363680678SYNGAP1c.191T>G (p.Leu64Arg)
c.449T>G (p.Leu150Arg)
c.272T>G (p.Leu91Arg)
c.404T>G (p.Leu135Arg)
n.644T>G
6g.33432747T>ACA449860380SYNGAP1c.192T>A (p.Leu64=)
c.450T>A (p.Leu150=)
c.273T>A (p.Leu91=)
c.405T>A (p.Leu135=)
n.645T>A
 dbSNP gnomAD v2 gnomAD v4
6g.33432747T>CCA449860381SYNGAP1c.192T>C (p.Leu64=)
c.450T>C (p.Leu150=)
c.273T>C (p.Leu91=)
c.405T>C (p.Leu135=)
n.645T>C
6g.33432747T>GCA449860382SYNGAP1c.192T>G (p.Leu64=)
c.450T>G (p.Leu150=)
c.273T>G (p.Leu91=)
c.405T>G (p.Leu135=)
n.645T>G
 dbSNP
6g.33432747T=CA1620010198SYNGAP1c.192T= (p.Leu64=)
c.450T= (p.Leu150=)
c.273T= (p.Leu91=)
c.405T= (p.Leu135=)
n.645T=
6g.33432748G>ACA363680682SYNGAP1c.193G>A (p.Asp65Asn)
c.451G>A (p.Asp151Asn)
c.274G>A (p.Asp92Asn)
c.406G>A (p.Asp136Asn)
n.646G>A
6g.33432748G>CCA3758496SYNGAP1c.193G>C (p.Asp65His)
c.451G>C (p.Asp151His)
c.274G>C (p.Asp92His)
c.406G>C (p.Asp136His)
n.646G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33432748G=CA1620010199SYNGAP1c.193G= (p.Asp65=)
c.451G= (p.Asp151=)
c.274G= (p.Asp92=)
c.406G= (p.Asp136=)
n.646G=
6g.33432748G>TCA363680684SYNGAP1c.193G>T (p.Asp65Tyr)
c.451G>T (p.Asp151Tyr)
c.274G>T (p.Asp92Tyr)
c.406G>T (p.Asp136Tyr)
n.646G>T
6g.33432752_33432756delCA913187326SYNGAP1c.197_201del (p.Arg66GlnfsTer14)
c.455_459del (p.Arg152GlnfsTer14)
c.278_282del (p.Arg93GlnfsTer14)
c.410_414del (p.Arg137GlnfsTer14)
n.650_654del
6g.33432749A>CCA363680685SYNGAP1c.194A>C (p.Asp65Ala)
c.452A>C (p.Asp151Ala)
c.275A>C (p.Asp92Ala)
c.407A>C (p.Asp136Ala)
n.647A>C
 gnomAD v4
6g.33432749A>GCA363680687SYNGAP1c.194A>G (p.Asp65Gly)
c.452A>G (p.Asp151Gly)
c.275A>G (p.Asp92Gly)
c.407A>G (p.Asp136Gly)
n.647A>G
6g.33432749A>TCA363680689SYNGAP1c.194A>T (p.Asp65Val)
c.452A>T (p.Asp151Val)
c.275A>T (p.Asp92Val)
c.407A>T (p.Asp136Val)
n.647A>T
6g.33432750C>ACA363680692SYNGAP1c.195C>A (p.Asp65Glu)
c.453C>A (p.Asp151Glu)
c.276C>A (p.Asp92Glu)
c.408C>A (p.Asp136Glu)
n.648C>A
 ClinVar
6g.33432750C>GCA363680693SYNGAP1c.195C>G (p.Asp65Glu)
c.453C>G (p.Asp151Glu)
c.276C>G (p.Asp92Glu)
c.408C>G (p.Asp136Glu)
n.648C>G
6g.33432750C>TCA449860391SYNGAP1c.195C>T (p.Asp65=)
c.453C>T (p.Asp151=)
c.276C>T (p.Asp92=)
c.408C>T (p.Asp136=)
n.648C>T
6g.33432751C>ACA137096987SYNGAP1c.196C>A (p.Arg66=)
c.454C>A (p.Arg152=)
c.277C>A (p.Arg93=)
c.409C>A (p.Arg137=)
n.649C>A
 dbSNP gnomAD v3 gnomAD v4
6g.33432751C=CA1620010200SYNGAP1c.196C= (p.Arg66=)
c.454C= (p.Arg152=)
c.277C= (p.Arg93=)
c.409C= (p.Arg137=)
n.649C=
6g.33432751C>GCA363680695SYNGAP1c.196C>G (p.Arg66Gly)
c.454C>G (p.Arg152Gly)
c.277C>G (p.Arg93Gly)
c.409C>G (p.Arg137Gly)
n.649C>G
6g.33432751C>TCA363680697SYNGAP1c.196C>T (p.Arg66Trp)
c.454C>T (p.Arg152Trp)
c.277C>T (p.Arg93Trp)
c.409C>T (p.Arg137Trp)
n.649C>T
 dbSNP gnomAD v2
6g.33432752G>ACA363680702SYNGAP1c.197G>A (p.Arg66Gln)
c.455G>A (p.Arg152Gln)
c.278G>A (p.Arg93Gln)
c.410G>A (p.Arg137Gln)
n.650G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33432752G>CCA363680703SYNGAP1c.197G>C (p.Arg66Pro)
c.455G>C (p.Arg152Pro)
c.278G>C (p.Arg93Pro)
c.410G>C (p.Arg137Pro)
n.650G>C
6g.33432752G=CA1620010201SYNGAP1c.197G= (p.Arg66=)
c.455G= (p.Arg152=)
c.278G= (p.Arg93=)
c.410G= (p.Arg137=)
n.650G=
6g.33432752G>TCA363680700SYNGAP1c.197G>T (p.Arg66Leu)
c.455G>T (p.Arg152Leu)
c.278G>T (p.Arg93Leu)
c.410G>T (p.Arg137Leu)
n.650G>T
 COSMIC COSMIC
6g.33432753dupCA2695202893SYNGAP1c.198dup (p.Thr67AspfsTer15)
c.456dup (p.Thr153AspfsTer15)
c.279dup (p.Thr94AspfsTer15)
c.411dup (p.Thr138AspfsTer15)
n.651dup
6g.33432753G>ACA449860398SYNGAP1c.198G>A (p.Arg66=)
c.456G>A (p.Arg152=)
c.279G>A (p.Arg93=)
c.411G>A (p.Arg137=)
n.651G>A
6g.33432753G>CCA449860400SYNGAP1c.198G>C (p.Arg66=)
c.456G>C (p.Arg152=)
c.279G>C (p.Arg93=)
c.411G>C (p.Arg137=)
n.651G>C
6g.33432753G>TCA449860401SYNGAP1c.198G>T (p.Arg66=)
c.456G>T (p.Arg152=)
c.279G>T (p.Arg93=)
c.411G>T (p.Arg137=)
n.651G>T
6g.33432754delCA2695198816SYNGAP1c.199del (p.Thr67ProfsTer21)
c.457del (p.Thr153ProfsTer21)
c.280del (p.Thr94ProfsTer21)
c.412del (p.Thr138ProfsTer21)
n.652del
 ClinVar
6g.33432754A>CCA363680705SYNGAP1c.199A>C (p.Thr67Pro)
c.457A>C (p.Thr153Pro)
c.280A>C (p.Thr94Pro)
c.412A>C (p.Thr138Pro)
n.652A>C
6g.33432754A>GCA363680707SYNGAP1c.199A>G (p.Thr67Ala)
c.457A>G (p.Thr153Ala)
c.280A>G (p.Thr94Ala)
c.412A>G (p.Thr138Ala)
n.652A>G
6g.33432754A>TCA363680708SYNGAP1c.199A>T (p.Thr67Ser)
c.457A>T (p.Thr153Ser)
c.280A>T (p.Thr94Ser)
c.412A>T (p.Thr138Ser)
n.652A>T
6g.33432755C>ACA137096990SYNGAP1c.200C>A (p.Thr67Asn)
c.458C>A (p.Thr153Asn)
c.281C>A (p.Thr94Asn)
c.413C>A (p.Thr138Asn)
n.653C>A
 ClinVar dbSNP
6g.33432755C=CA1620010202SYNGAP1c.200C= (p.Thr67=)
c.458C= (p.Thr153=)
c.281C= (p.Thr94=)
c.413C= (p.Thr138=)
n.653C=
6g.33432755C>GCA363680710SYNGAP1c.200C>G (p.Thr67Ser)
c.458C>G (p.Thr153Ser)
c.281C>G (p.Thr94Ser)
c.413C>G (p.Thr138Ser)
n.653C>G
6g.33432755C>TCA363680711SYNGAP1c.200C>T (p.Thr67Ile)
c.458C>T (p.Thr153Ile)
c.281C>T (p.Thr94Ile)
c.413C>T (p.Thr138Ile)
n.653C>T
6g.33432756C>ACA449860409SYNGAP1c.201C>A (p.Thr67=)
c.459C>A (p.Thr153=)
c.282C>A (p.Thr94=)
c.414C>A (p.Thr138=)
n.654C>A
6g.33432756C>GCA449860412SYNGAP1c.201C>G (p.Thr67=)
c.459C>G (p.Thr153=)
c.282C>G (p.Thr94=)
c.414C>G (p.Thr138=)
n.654C>G
6g.33432756C>TCA449860410SYNGAP1c.201C>T (p.Thr67=)
c.459C>T (p.Thr153=)
c.282C>T (p.Thr94=)
c.414C>T (p.Thr138=)
n.654C>T
6g.33432757A>CCA363680712SYNGAP1c.202A>C (p.Ser68Arg)
c.460A>C (p.Ser154Arg)
c.283A>C (p.Ser95Arg)
c.415A>C (p.Ser139Arg)
n.655A>C
6g.33432757A>GCA363680716SYNGAP1c.202A>G (p.Ser68Gly)
c.460A>G (p.Ser154Gly)
c.283A>G (p.Ser95Gly)
c.415A>G (p.Ser139Gly)
n.655A>G
6g.33432757A>TCA363680714SYNGAP1c.202A>T (p.Ser68Cys)
c.460A>T (p.Ser154Cys)
c.283A>T (p.Ser95Cys)
c.415A>T (p.Ser139Cys)
n.655A>T
6g.33432758G>ACA363680718SYNGAP1c.203G>A (p.Ser68Asn)
c.461G>A (p.Ser154Asn)
c.284G>A (p.Ser95Asn)
c.416G>A (p.Ser139Asn)
n.656G>A
6g.33432758G>CCA363680720SYNGAP1c.203G>C (p.Ser68Thr)
c.461G>C (p.Ser154Thr)
c.284G>C (p.Ser95Thr)
c.416G>C (p.Ser139Thr)
n.656G>C
6g.33432758G>TCA363680721SYNGAP1c.203G>T (p.Ser68Ile)
c.461G>T (p.Ser154Ile)
c.284G>T (p.Ser95Ile)
c.416G>T (p.Ser139Ile)
n.656G>T
6g.33432759C>ACA363680723SYNGAP1c.204C>A (p.Ser68Arg)
c.462C>A (p.Ser154Arg)
c.285C>A (p.Ser95Arg)
c.417C>A (p.Ser139Arg)
n.657C>A
6g.33432759C>GCA363680725SYNGAP1c.204C>G (p.Ser68Arg)
c.462C>G (p.Ser154Arg)
c.285C>G (p.Ser95Arg)
c.417C>G (p.Ser139Arg)
n.657C>G
6g.33432759C>TCA449860424SYNGAP1c.204C>T (p.Ser68=)
c.462C>T (p.Ser154=)
c.285C>T (p.Ser95=)
c.417C>T (p.Ser139=)
n.657C>T
6g.33432760delCA2695202894SYNGAP1c.205del (p.Ser69AlafsTer19)
c.463del (p.Ser155AlafsTer19)
c.286del (p.Ser96AlafsTer19)
c.418del (p.Ser140AlafsTer19)
n.658del
6g.33432760A>CCA363680728SYNGAP1c.205A>C (p.Ser69Arg)
c.463A>C (p.Ser155Arg)
c.286A>C (p.Ser96Arg)
c.418A>C (p.Ser140Arg)
n.658A>C
6g.33432760A>GCA363680729SYNGAP1c.205A>G (p.Ser69Gly)
c.463A>G (p.Ser155Gly)
c.286A>G (p.Ser96Gly)
c.418A>G (p.Ser140Gly)
n.658A>G
6g.33432760A>TCA363680727SYNGAP1c.205A>T (p.Ser69Cys)
c.463A>T (p.Ser155Cys)
c.286A>T (p.Ser96Cys)
c.418A>T (p.Ser140Cys)
n.658A>T
 COSMIC COSMIC
6g.33432761G>ACA363680732SYNGAP1c.206G>A (p.Ser69Asn)
c.464G>A (p.Ser155Asn)
c.287G>A (p.Ser96Asn)
c.419G>A (p.Ser140Asn)
n.659G>A
6g.33432761G>CCA363680734SYNGAP1c.206G>C (p.Ser69Thr)
c.464G>C (p.Ser155Thr)
c.287G>C (p.Ser96Thr)
c.419G>C (p.Ser140Thr)
n.659G>C
6g.33432761G>TCA363680733SYNGAP1c.206G>T (p.Ser69Ile)
c.464G>T (p.Ser155Ile)
c.287G>T (p.Ser96Ile)
c.419G>T (p.Ser140Ile)
n.659G>T
6g.33432762C>ACA363680737SYNGAP1c.207C>A (p.Ser69Arg)
c.465C>A (p.Ser155Arg)
c.288C>A (p.Ser96Arg)
c.420C>A (p.Ser140Arg)
n.660C>A
6g.33432762C>GCA363680739SYNGAP1c.207C>G (p.Ser69Arg)
c.465C>G (p.Ser155Arg)
c.288C>G (p.Ser96Arg)
c.420C>G (p.Ser140Arg)
n.660C>G
6g.33432762C>TCA449860436SYNGAP1c.207C>T (p.Ser69=)
c.465C>T (p.Ser155=)
c.288C>T (p.Ser96=)
c.420C>T (p.Ser140=)
n.660C>T
6g.33432764_33432776delCA2825001462SYNGAP1c.209_221del (p.Phe70CysfsTer14)
c.467_479del (p.Phe156CysfsTer14)
c.290_302del (p.Phe97CysfsTer14)
c.422_434del (p.Phe141CysfsTer14)
n.662_674del
 ClinVar
6g.33432763T>ACA363680741SYNGAP1c.208T>A (p.Phe70Ile)
c.466T>A (p.Phe156Ile)
c.289T>A (p.Phe97Ile)
c.421T>A (p.Phe141Ile)
n.661T>A
6g.33432763T>CCA363680743SYNGAP1c.208T>C (p.Phe70Leu)
c.466T>C (p.Phe156Leu)
c.289T>C (p.Phe97Leu)
c.421T>C (p.Phe141Leu)
n.661T>C
6g.33432763T>GCA363680744SYNGAP1c.208T>G (p.Phe70Val)
c.466T>G (p.Phe156Val)
c.289T>G (p.Phe97Val)
c.421T>G (p.Phe141Val)
n.661T>G
6g.33432764T>ACA363680745SYNGAP1c.209T>A (p.Phe70Tyr)
c.467T>A (p.Phe156Tyr)
c.290T>A (p.Phe97Tyr)
c.422T>A (p.Phe141Tyr)
n.662T>A
6g.33432764T>CCA363680747SYNGAP1c.209T>C (p.Phe70Ser)
c.467T>C (p.Phe156Ser)
c.290T>C (p.Phe97Ser)
c.422T>C (p.Phe141Ser)
n.662T>C
6g.33432764T>GCA363680749SYNGAP1c.209T>G (p.Phe70Cys)
c.467T>G (p.Phe156Cys)
c.290T>G (p.Phe97Cys)
c.422T>G (p.Phe141Cys)
n.662T>G
 dbSNP
6g.33432764T=CA1620010203SYNGAP1c.209T= (p.Phe70=)
c.467T= (p.Phe156=)
c.290T= (p.Phe97=)
c.422T= (p.Phe141=)
n.662T=
6g.33432765T>ACA363680751SYNGAP1c.210T>A (p.Phe70Leu)
c.468T>A (p.Phe156Leu)
c.291T>A (p.Phe97Leu)
c.423T>A (p.Phe141Leu)
n.663T>A
6g.33432765T>CCA449860445SYNGAP1c.210T>C (p.Phe70=)
c.468T>C (p.Phe156=)
c.291T>C (p.Phe97=)
c.423T>C (p.Phe141=)
n.663T>C
6g.33432765T>GCA363680753SYNGAP1c.210T>G (p.Phe70Leu)
c.468T>G (p.Phe156Leu)
c.291T>G (p.Phe97Leu)
c.423T>G (p.Phe141Leu)
n.663T>G
6g.33432766C>ACA363680758SYNGAP1c.211C>A (p.Arg71Ser)
c.469C>A (p.Arg157Ser)
c.292C>A (p.Arg98Ser)
c.424C>A (p.Arg142Ser)
n.664C>A
6g.33432766C=CA1620010204SYNGAP1c.211C= (p.Arg71=)
c.469C= (p.Arg157=)
c.292C= (p.Arg98=)
c.424C= (p.Arg142=)
n.664C=
6g.33432766C>GCA363680756SYNGAP1c.211C>G (p.Arg71Gly)
c.469C>G (p.Arg157Gly)
c.292C>G (p.Arg98Gly)
c.424C>G (p.Arg142Gly)
n.664C>G
6g.33432766C>TCA3758497SYNGAP1c.211C>T (p.Arg71Cys)
c.469C>T (p.Arg157Cys)
c.292C>T (p.Arg98Cys)
c.424C>T (p.Arg142Cys)
n.664C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33432767G>ACA363680760SYNGAP1c.212G>A (p.Arg71His)
c.470G>A (p.Arg157His)
c.293G>A (p.Arg98His)
c.425G>A (p.Arg142His)
n.665G>A
 ClinVar gnomAD v4
6g.33432767G>CCA363680762SYNGAP1c.212G>C (p.Arg71Pro)
c.470G>C (p.Arg157Pro)
c.293G>C (p.Arg98Pro)
c.425G>C (p.Arg142Pro)
n.665G>C
6g.33432767G>TCA363680764SYNGAP1c.212G>T (p.Arg71Leu)
c.470G>T (p.Arg157Leu)
c.293G>T (p.Arg98Leu)
c.425G>T (p.Arg142Leu)
n.665G>T
6g.33432768C>ACA449860453SYNGAP1c.213C>A (p.Arg71=)
c.471C>A (p.Arg157=)
c.294C>A (p.Arg98=)
c.426C>A (p.Arg142=)
n.666C>A
6g.33432768C>GCA449860455SYNGAP1c.213C>G (p.Arg71=)
c.471C>G (p.Arg157=)
c.294C>G (p.Arg98=)
c.426C>G (p.Arg142=)
n.666C>G
6g.33432768C>TCA449860454SYNGAP1c.213C>T (p.Arg71=)
c.471C>T (p.Arg157=)
c.294C>T (p.Arg98=)
c.426C>T (p.Arg142=)
n.666C>T
6g.33432769C>ACA363680767SYNGAP1c.214C>A (p.Gln72Lys)
c.472C>A (p.Gln158Lys)
c.295C>A (p.Gln99Lys)
c.427C>A (p.Gln143Lys)
n.667C>A
6g.33432769C=CA1620010205SYNGAP1c.214C= (p.Gln72=)
c.472C= (p.Gln158=)
c.295C= (p.Gln99=)
c.427C= (p.Gln143=)
n.667C=
6g.33432769C>GCA363680769SYNGAP1c.214C>G (p.Gln72Glu)
c.472C>G (p.Gln158Glu)
c.295C>G (p.Gln99Glu)
c.427C>G (p.Gln143Glu)
n.667C>G
6g.33432769C>TCA363680770SYNGAP1c.214C>T (p.Gln72Ter)
c.472C>T (p.Gln158Ter)
c.295C>T (p.Gln99Ter)
c.427C>T (p.Gln143Ter)
n.667C>T
 ClinVar dbSNP
6g.33432770A>CCA363680774SYNGAP1c.215A>C (p.Gln72Pro)
c.473A>C (p.Gln158Pro)
c.296A>C (p.Gln99Pro)
c.428A>C (p.Gln143Pro)
n.668A>C
6g.33432770A>GCA363680775SYNGAP1c.215A>G (p.Gln72Arg)
c.473A>G (p.Gln158Arg)
c.296A>G (p.Gln99Arg)
c.428A>G (p.Gln143Arg)
n.668A>G
6g.33432770A>TCA363680776SYNGAP1c.215A>T (p.Gln72Leu)
c.473A>T (p.Gln158Leu)
c.296A>T (p.Gln99Leu)
c.428A>T (p.Gln143Leu)
n.668A>T
6g.33432771G>ACA449860459SYNGAP1c.216G>A (p.Gln72=)
c.474G>A (p.Gln158=)
c.297G>A (p.Gln99=)
c.429G>A (p.Gln143=)
n.669G>A
6g.33432771G>CCA363680779SYNGAP1c.216G>C (p.Gln72His)
c.474G>C (p.Gln158His)
c.297G>C (p.Gln99His)
c.429G>C (p.Gln143His)
n.669G>C
6g.33432771G>TCA363680784SYNGAP1c.216G>T (p.Gln72His)
c.474G>T (p.Gln158His)
c.297G>T (p.Gln99His)
c.429G>T (p.Gln143His)
n.669G>T
6g.33432772A>CCA363680787SYNGAP1c.217A>C (p.Ile73Leu)
c.475A>C (p.Ile159Leu)
c.298A>C (p.Ile100Leu)
c.430A>C (p.Ile144Leu)
n.670A>C
6g.33432772A>GCA363680790SYNGAP1c.217A>G (p.Ile73Val)
c.475A>G (p.Ile159Val)
c.298A>G (p.Ile100Val)
c.430A>G (p.Ile144Val)
n.670A>G
6g.33432772A>TCA363680786SYNGAP1c.217A>T (p.Ile73Phe)
c.475A>T (p.Ile159Phe)
c.298A>T (p.Ile100Phe)
c.430A>T (p.Ile144Phe)
n.670A>T
6g.33432773T>ACA363680792SYNGAP1c.218T>A (p.Ile73Asn)
c.476T>A (p.Ile159Asn)
c.299T>A (p.Ile100Asn)
c.431T>A (p.Ile144Asn)
n.671T>A
6g.33432773T>CCA363680794SYNGAP1c.218T>C (p.Ile73Thr)
c.476T>C (p.Ile159Thr)
c.299T>C (p.Ile100Thr)
c.431T>C (p.Ile144Thr)
n.671T>C
6g.33432773T>GCA363680796SYNGAP1c.218T>G (p.Ile73Ser)
c.476T>G (p.Ile159Ser)
c.299T>G (p.Ile100Ser)
c.431T>G (p.Ile144Ser)
n.671T>G
6g.33432774C>ACA449860479SYNGAP1c.219C>A (p.Ile73=)
c.477C>A (p.Ile159=)
c.300C>A (p.Ile100=)
c.432C>A (p.Ile144=)
n.672C>A
 dbSNP gnomAD v2 gnomAD v4
6g.33432774C=CA1620010206SYNGAP1c.219C= (p.Ile73=)
c.477C= (p.Ile159=)
c.300C= (p.Ile100=)
c.432C= (p.Ile144=)
n.672C=
6g.33432774C>GCA363680798SYNGAP1c.219C>G (p.Ile73Met)
c.477C>G (p.Ile159Met)
c.300C>G (p.Ile100Met)
c.432C>G (p.Ile144Met)
n.672C>G
6g.33432774C>TCA449860485SYNGAP1c.219C>T (p.Ile73=)
c.477C>T (p.Ile159=)
c.300C>T (p.Ile100=)
c.432C>T (p.Ile144=)
n.672C>T
6g.33432775delCA2580074394SYNGAP1c.220del (p.Leu74CysfsTer14)
c.478del (p.Leu160CysfsTer14)
c.301del (p.Leu101CysfsTer14)
c.433del (p.Leu145CysfsTer14)
n.673del
 ClinVar
6g.33432775C>ACA363680800SYNGAP1c.220C>A (p.Leu74Met)
c.478C>A (p.Leu160Met)
c.301C>A (p.Leu101Met)
c.433C>A (p.Leu145Met)
n.673C>A
6g.33432775C=CA1620010207SYNGAP1c.220C= (p.Leu74=)
c.478C= (p.Leu160=)
c.301C= (p.Leu101=)
c.433C= (p.Leu145=)
n.673C=
6g.33432775C>GCA363680802SYNGAP1c.220C>G (p.Leu74Val)
c.478C>G (p.Leu160Val)
c.301C>G (p.Leu101Val)
c.433C>G (p.Leu145Val)
n.673C>G
6g.33432775C>TCA449860488SYNGAP1c.220C>T (p.Leu74=)
c.478C>T (p.Leu160=)
c.301C>T (p.Leu101=)
c.433C>T (p.Leu145=)
n.673C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33432776T>ACA363680804SYNGAP1c.221T>A (p.Leu74Gln)
c.479T>A (p.Leu160Gln)
c.302T>A (p.Leu101Gln)
c.434T>A (p.Leu145Gln)
n.674T>A
6g.33432776T>CCA363680805SYNGAP1c.221T>C (p.Leu74Pro)
c.479T>C (p.Leu160Pro)
c.302T>C (p.Leu101Pro)
c.434T>C (p.Leu145Pro)
n.674T>C
6g.33432776T>GCA363680806SYNGAP1c.221T>G (p.Leu74Arg)
c.479T>G (p.Leu160Arg)
c.302T>G (p.Leu101Arg)
c.434T>G (p.Leu145Arg)
n.674T>G
6g.33432777G>ACA449860492SYNGAP1c.222G>A (p.Leu74=)
c.480G>A (p.Leu160=)
c.303G>A (p.Leu101=)
c.435G>A (p.Leu145=)
n.675G>A
 gnomAD v4
6g.33432777G>CCA449860491SYNGAP1c.222G>C (p.Leu74=)
c.480G>C (p.Leu160=)
c.303G>C (p.Leu101=)
c.435G>C (p.Leu145=)
n.675G>C
6g.33432777G>TCA449860490SYNGAP1c.222G>T (p.Leu74=)
c.480G>T (p.Leu160=)
c.303G>T (p.Leu101=)
c.435G>T (p.Leu145=)
n.675G>T
6g.33432778C>ACA363680810SYNGAP1c.223C>A (p.Pro75Thr)
c.481C>A (p.Pro161Thr)
c.304C>A (p.Pro102Thr)
c.436C>A (p.Pro146Thr)
n.676C>A
6g.33432778C>GCA363680811SYNGAP1c.223C>G (p.Pro75Ala)
c.481C>G (p.Pro161Ala)
c.304C>G (p.Pro102Ala)
c.436C>G (p.Pro146Ala)
n.676C>G
6g.33432778C>TCA363680813SYNGAP1c.223C>T (p.Pro75Ser)
c.481C>T (p.Pro161Ser)
c.304C>T (p.Pro102Ser)
c.436C>T (p.Pro146Ser)
n.676C>T
6g.33432779C>ACA363680817SYNGAP1c.224C>A (p.Pro75His)
c.482C>A (p.Pro161His)
c.305C>A (p.Pro102His)
c.437C>A (p.Pro146His)
n.677C>A
6g.33432779C>GCA363680818SYNGAP1c.224C>G (p.Pro75Arg)
c.482C>G (p.Pro161Arg)
c.305C>G (p.Pro102Arg)
c.437C>G (p.Pro146Arg)
n.677C>G
6g.33432779C>TCA363680816SYNGAP1c.224C>T (p.Pro75Leu)
c.482C>T (p.Pro161Leu)
c.305C>T (p.Pro102Leu)
c.437C>T (p.Pro146Leu)
n.677C>T
6g.33432780T>ACA449860502SYNGAP1c.225T>A (p.Pro75=)
c.483T>A (p.Pro161=)
c.306T>A (p.Pro102=)
c.438T>A (p.Pro146=)
n.678T>A
6g.33432780T>CCA449860504SYNGAP1c.225T>C (p.Pro75=)
c.483T>C (p.Pro161=)
c.306T>C (p.Pro102=)
c.438T>C (p.Pro146=)
n.678T>C
6g.33432780T>GCA449860505SYNGAP1c.225T>G (p.Pro75=)
c.483T>G (p.Pro161=)
c.306T>G (p.Pro102=)
c.438T>G (p.Pro146=)
n.678T>G
6g.33432785_33432786insTGATCGCTTCA2678271127SYNGAP1c.230_231insTGATCGCTT (p.Phe77_Arg78insAspArgPhe)
c.488_489insTGATCGCTT (p.Phe163_Arg164insAspArgPhe)
c.311_312insTGATCGCTT (p.Phe104_Arg105insAspArgPhe)
c.443_444insTGATCGCTT (p.Phe148_Arg149insAspArgPhe)
n.683_684insTGATCGCTT
 gnomAD v4
6g.33432781C>ACA363680820SYNGAP1c.226C>A (p.Arg76Ser)
c.484C>A (p.Arg162Ser)
c.307C>A (p.Arg103Ser)
c.439C>A (p.Arg147Ser)
n.679C>A
6g.33432781C=CA1620010208SYNGAP1c.226C= (p.Arg76=)
c.484C= (p.Arg162=)
c.307C= (p.Arg103=)
c.439C= (p.Arg147=)
n.679C=
6g.33432781C>GCA363680822SYNGAP1c.226C>G (p.Arg76Gly)
c.484C>G (p.Arg162Gly)
c.307C>G (p.Arg103Gly)
c.439C>G (p.Arg147Gly)
n.679C>G
 ClinVar
6g.33432781C>TCA363680823SYNGAP1c.226C>T (p.Arg76Cys)
c.484C>T (p.Arg162Cys)
c.307C>T (p.Arg103Cys)
c.439C>T (p.Arg147Cys)
n.679C>T
 ClinVar dbSNP
6g.33432782G>ACA363680824SYNGAP1c.227G>A (p.Arg76His)
c.485G>A (p.Arg162His)
c.308G>A (p.Arg103His)
c.440G>A (p.Arg147His)
n.680G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33432782G>CCA363680825SYNGAP1c.227G>C (p.Arg76Pro)
c.485G>C (p.Arg162Pro)
c.308G>C (p.Arg103Pro)
c.440G>C (p.Arg147Pro)
n.680G>C
6g.33432782G=CA1620010209SYNGAP1c.227G= (p.Arg76=)
c.485G= (p.Arg162=)
c.308G= (p.Arg103=)
c.440G= (p.Arg147=)
n.680G=
6g.33432782G>TCA363680826SYNGAP1c.227G>T (p.Arg76Leu)
c.485G>T (p.Arg162Leu)
c.308G>T (p.Arg103Leu)
c.440G>T (p.Arg147Leu)
n.680G>T
6g.33432783C>ACA449860506SYNGAP1c.228C>A (p.Arg76=)
c.486C>A (p.Arg162=)
c.309C>A (p.Arg103=)
c.441C>A (p.Arg147=)
n.681C>A
6g.33432783C>GCA449860507SYNGAP1c.228C>G (p.Arg76=)
c.486C>G (p.Arg162=)
c.309C>G (p.Arg103=)
c.441C>G (p.Arg147=)
n.681C>G
6g.33432783C>TCA449860508SYNGAP1c.228C>T (p.Arg76=)
c.486C>T (p.Arg162=)
c.309C>T (p.Arg103=)
c.441C>T (p.Arg147=)
n.681C>T
6g.33432784T>ACA363680828SYNGAP1c.229T>A (p.Phe77Ile)
c.487T>A (p.Phe163Ile)
c.310T>A (p.Phe104Ile)
c.442T>A (p.Phe148Ile)
n.682T>A
6g.33432784T>CCA363680832SYNGAP1c.229T>C (p.Phe77Leu)
c.487T>C (p.Phe163Leu)
c.310T>C (p.Phe104Leu)
c.442T>C (p.Phe148Leu)
n.682T>C
6g.33432784T>GCA363680830SYNGAP1c.229T>G (p.Phe77Val)
c.487T>G (p.Phe163Val)
c.310T>G (p.Phe104Val)
c.442T>G (p.Phe148Val)
n.682T>G
6g.33432785T>ACA363680834SYNGAP1c.230T>A (p.Phe77Tyr)
c.488T>A (p.Phe163Tyr)
c.311T>A (p.Phe104Tyr)
c.443T>A (p.Phe148Tyr)
n.683T>A
6g.33432785T>CCA363680835SYNGAP1c.230T>C (p.Phe77Ser)
c.488T>C (p.Phe163Ser)
c.311T>C (p.Phe104Ser)
c.443T>C (p.Phe148Ser)
n.683T>C
6g.33432785T>GCA363680837SYNGAP1c.230T>G (p.Phe77Cys)
c.488T>G (p.Phe163Cys)
c.311T>G (p.Phe104Cys)
c.443T>G (p.Phe148Cys)
n.683T>G
6g.33432786C>ACA363680839SYNGAP1c.231C>A (p.Phe77Leu)
c.489C>A (p.Phe163Leu)
c.312C>A (p.Phe104Leu)
c.444C>A (p.Phe148Leu)
n.684C>A
6g.33432786C>GCA363680840SYNGAP1c.231C>G (p.Phe77Leu)
c.489C>G (p.Phe163Leu)
c.312C>G (p.Phe104Leu)
c.444C>G (p.Phe148Leu)
n.684C>G
6g.33432786C>TCA449860517SYNGAP1c.231C>T (p.Phe77=)
c.489C>T (p.Phe163=)
c.312C>T (p.Phe104=)
c.444C>T (p.Phe148=)
n.684C>T
 gnomAD v4 COSMIC COSMIC
6g.33432787C>ACA449860519SYNGAP1c.232C>A (p.Arg78=)
c.490C>A (p.Arg164=)
c.313C>A (p.Arg105=)
c.445C>A (p.Arg149=)
n.685C>A
6g.33432787C=CA1620010210SYNGAP1c.232C= (p.Arg78=)
c.490C= (p.Arg164=)
c.313C= (p.Arg105=)
c.445C= (p.Arg149=)
n.685C=
6g.33432787C>GCA363680842SYNGAP1c.232C>G (p.Arg78Gly)
c.490C>G (p.Arg164Gly)
c.313C>G (p.Arg105Gly)
c.445C>G (p.Arg149Gly)
n.685C>G
6g.33432787C>TCA16042666SYNGAP1c.232C>T (p.Arg78Ter)
c.490C>T (p.Arg164Ter)
c.313C>T (p.Arg105Ter)
c.445C>T (p.Arg149Ter)
n.685C>T
 ClinVar dbSNP COSMIC COSMIC
6g.33432788G>ACA363680845SYNGAP1c.233G>A (p.Arg78Gln)
c.491G>A (p.Arg164Gln)
c.314G>A (p.Arg105Gln)
c.446G>A (p.Arg149Gln)
n.686G>A
 dbSNP gnomAD v4 COSMIC COSMIC
6g.33432788G>CCA363680849SYNGAP1c.233G>C (p.Arg78Pro)
c.491G>C (p.Arg164Pro)
c.314G>C (p.Arg105Pro)
c.446G>C (p.Arg149Pro)
n.686G>C
 gnomAD v4
6g.33432788G>TCA363680847SYNGAP1c.233G>T (p.Arg78Leu)
c.491G>T (p.Arg164Leu)
c.314G>T (p.Arg105Leu)
c.446G>T (p.Arg149Leu)
n.686G>T
6g.33432789A>CCA449860525SYNGAP1c.234A>C (p.Arg78=)
c.492A>C (p.Arg164=)
c.315A>C (p.Arg105=)
c.447A>C (p.Arg149=)
n.687A>C
6g.33432789A>GCA449860528SYNGAP1c.234A>G (p.Arg78=)
c.492A>G (p.Arg164=)
c.315A>G (p.Arg105=)
c.447A>G (p.Arg149=)
n.687A>G
6g.33432789A>TCA449860529SYNGAP1c.234A>T (p.Arg78=)
c.492A>T (p.Arg164=)
c.315A>T (p.Arg105=)
c.447A>T (p.Arg149=)
n.687A>T
6g.33432790A>CCA363680851SYNGAP1c.235A>C (p.Ser79Arg)
c.493A>C (p.Ser165Arg)
c.316A>C (p.Ser106Arg)
c.448A>C (p.Ser150Arg)
n.688A>C
6g.33432790A>GCA363680855SYNGAP1c.235A>G (p.Ser79Gly)
c.493A>G (p.Ser165Gly)
c.316A>G (p.Ser106Gly)
c.448A>G (p.Ser150Gly)
n.688A>G
6g.33432790A>TCA363680853SYNGAP1c.235A>T (p.Ser79Cys)
c.493A>T (p.Ser165Cys)
c.316A>T (p.Ser106Cys)
c.448A>T (p.Ser150Cys)
n.688A>T
6g.33432791G>ACA363680857SYNGAP1c.236G>A (p.Ser79Asn)
c.494G>A (p.Ser165Asn)
c.317G>A (p.Ser106Asn)
c.449G>A (p.Ser150Asn)
n.689G>A
6g.33432791G>CCA363680859SYNGAP1c.236G>C (p.Ser79Thr)
c.494G>C (p.Ser165Thr)
c.317G>C (p.Ser106Thr)
c.449G>C (p.Ser150Thr)
n.689G>C
6g.33432791G>TCA363680861SYNGAP1c.236G>T (p.Ser79Ile)
c.494G>T (p.Ser165Ile)
c.317G>T (p.Ser106Ile)
c.449G>T (p.Ser150Ile)
n.689G>T
6g.33432792T>ACA363680862SYNGAP1c.237T>A (p.Ser79Arg)
c.495T>A (p.Ser165Arg)
c.318T>A (p.Ser106Arg)
c.450T>A (p.Ser150Arg)
n.690T>A
6g.33432792T>CCA449860540SYNGAP1c.237T>C (p.Ser79=)
c.495T>C (p.Ser165=)
c.318T>C (p.Ser106=)
c.450T>C (p.Ser150=)
n.690T>C
6g.33432792T>GCA363680863SYNGAP1c.237T>G (p.Ser79Arg)
c.495T>G (p.Ser165Arg)
c.318T>G (p.Ser106Arg)
c.450T>G (p.Ser150Arg)
n.690T>G
6g.33432793G>ACA363680864SYNGAP1c.238G>A (p.Ala80Thr)
c.496G>A (p.Ala166Thr)
c.319G>A (p.Ala107Thr)
c.451G>A (p.Ala151Thr)
n.691G>A
6g.33432793G>CCA363680865SYNGAP1c.238G>C (p.Ala80Pro)
c.496G>C (p.Ala166Pro)
c.319G>C (p.Ala107Pro)
c.451G>C (p.Ala151Pro)
n.691G>C
6g.33432793G>TCA363680866SYNGAP1c.238G>T (p.Ala80Ser)
c.496G>T (p.Ala166Ser)
c.319G>T (p.Ala107Ser)
c.451G>T (p.Ala151Ser)
n.691G>T
6g.33432794C>ACA363680867SYNGAP1c.239C>A (p.Ala80Asp)
c.497C>A (p.Ala166Asp)
c.320C>A (p.Ala107Asp)
c.452C>A (p.Ala151Asp)
n.692C>A
6g.33432794C>GCA363680868SYNGAP1c.239C>G (p.Ala80Gly)
c.497C>G (p.Ala166Gly)
c.320C>G (p.Ala107Gly)
c.452C>G (p.Ala151Gly)
n.692C>G
6g.33432794C>TCA363680869SYNGAP1c.239C>T (p.Ala80Val)
c.497C>T (p.Ala166Val)
c.320C>T (p.Ala107Val)
c.452C>T (p.Ala151Val)
n.692C>T
6g.33432795T>ACA449860553SYNGAP1c.240T>A (p.Ala80=)
c.498T>A (p.Ala166=)
c.321T>A (p.Ala107=)
c.453T>A (p.Ala151=)
n.693T>A
6g.33432795T>CCA449860555SYNGAP1c.240T>C (p.Ala80=)
c.498T>C (p.Ala166=)
c.321T>C (p.Ala107=)
c.453T>C (p.Ala151=)
n.693T>C
6g.33432795T>GCA449860558SYNGAP1c.240T>G (p.Ala80=)
c.498T>G (p.Ala166=)
c.321T>G (p.Ala107=)
c.453T>G (p.Ala151=)
n.693T>G
6g.33432796G>ACA3758498SYNGAP1c.241G>A (p.Asp81Asn)
c.499G>A (p.Asp167Asn)
c.322G>A (p.Asp108Asn)
c.454G>A (p.Asp152Asn)
n.694G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33432796G>CCA363680871SYNGAP1c.241G>C (p.Asp81His)
c.499G>C (p.Asp167His)
c.322G>C (p.Asp108His)
c.454G>C (p.Asp152His)
n.694G>C
6g.33432796G=CA1620010211SYNGAP1c.241G= (p.Asp81=)
c.499G= (p.Asp167=)
c.322G= (p.Asp108=)
c.454G= (p.Asp152=)
n.694G=
6g.33432796G>TCA363680870SYNGAP1c.241G>T (p.Asp81Tyr)
c.499G>T (p.Asp167Tyr)
c.322G>T (p.Asp108Tyr)
c.454G>T (p.Asp152Tyr)
n.694G>T
6g.33432797A>CCA363680872SYNGAP1c.242A>C (p.Asp81Ala)
c.500A>C (p.Asp167Ala)
c.323A>C (p.Asp108Ala)
c.455A>C (p.Asp152Ala)
n.695A>C
6g.33432797A>GCA363680873SYNGAP1c.242A>G (p.Asp81Gly)
c.500A>G (p.Asp167Gly)
c.323A>G (p.Asp108Gly)
c.455A>G (p.Asp152Gly)
n.695A>G
6g.33432797A>TCA363680874SYNGAP1c.242A>T (p.Asp81Val)
c.500A>T (p.Asp167Val)
c.323A>T (p.Asp108Val)
c.455A>T (p.Asp152Val)
n.695A>T
6g.33432798C>ACA363680876SYNGAP1c.243C>A (p.Asp81Glu)
c.501C>A (p.Asp167Glu)
c.324C>A (p.Asp108Glu)
c.456C>A (p.Asp152Glu)
n.696C>A
6g.33432798C=CA1620010212SYNGAP1c.243C= (p.Asp81=)
c.501C= (p.Asp167=)
c.324C= (p.Asp108=)
c.456C= (p.Asp152=)
n.696C=
6g.33432798C>GCA363680878SYNGAP1c.243C>G (p.Asp81Glu)
c.501C>G (p.Asp167Glu)
c.324C>G (p.Asp108Glu)
c.456C>G (p.Asp152Glu)
n.696C>G
6g.33432798C>TCA3758499SYNGAP1c.243C>T (p.Asp81=)
c.501C>T (p.Asp167=)
c.324C>T (p.Asp108=)
c.456C>T (p.Asp152=)
n.696C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33432799C>ACA363680879SYNGAP1c.244C>A (p.His82Asn)
c.502C>A (p.His168Asn)
c.325C>A (p.His109Asn)
c.457C>A (p.His153Asn)
n.697C>A
6g.33432799C=CA1620010213SYNGAP1c.244C= (p.His82=)
c.502C= (p.His168=)
c.325C= (p.His109=)
c.457C= (p.His153=)
n.697C=
6g.33432799C>GCA363680880SYNGAP1c.244C>G (p.His82Asp)
c.502C>G (p.His168Asp)
c.325C>G (p.His109Asp)
c.457C>G (p.His153Asp)
n.697C>G
6g.33432799C>TCA363680881SYNGAP1c.244C>T (p.His82Tyr)
c.502C>T (p.His168Tyr)
c.325C>T (p.His109Tyr)
c.457C>T (p.His153Tyr)
n.697C>T
 ClinVar dbSNP
6g.33432800A>CCA363680882SYNGAP1c.245A>C (p.His82Pro)
c.503A>C (p.His168Pro)
c.326A>C (p.His109Pro)
c.458A>C (p.His153Pro)
n.698A>C
6g.33432800A>GCA363680883SYNGAP1c.245A>G (p.His82Arg)
c.503A>G (p.His168Arg)
c.326A>G (p.His109Arg)
c.458A>G (p.His153Arg)
n.698A>G
 gnomAD v4
6g.33432800A>TCA363680885SYNGAP1c.245A>T (p.His82Leu)
c.503A>T (p.His168Leu)
c.326A>T (p.His109Leu)
c.458A>T (p.His153Leu)
n.698A>T
6g.33432801T>ACA363680886SYNGAP1c.246T>A (p.His82Gln)
c.504T>A (p.His168Gln)
c.327T>A (p.His109Gln)
c.459T>A (p.His153Gln)
n.699T>A
6g.33432801T>CCA449860573SYNGAP1c.246T>C (p.His82=)
c.504T>C (p.His168=)
c.327T>C (p.His109=)
c.459T>C (p.His153=)
n.699T>C
 dbSNP
6g.33432801T>GCA363680888SYNGAP1c.246T>G (p.His82Gln)
c.504T>G (p.His168Gln)
c.327T>G (p.His109Gln)
c.459T>G (p.His153Gln)
n.699T>G
6g.33432801T=CA1620010214SYNGAP1c.246T= (p.His82=)
c.504T= (p.His168=)
c.327T= (p.His109=)
c.459T= (p.His153=)
n.699T=
6g.33432802G>ACA363680891SYNGAP1c.247G>A (p.Asp83Asn)
c.505G>A (p.Asp169Asn)
c.328G>A (p.Asp110Asn)
c.460G>A (p.Asp154Asn)
n.700G>A
 ClinVar dbSNP
6g.33432802G>CCA363680892SYNGAP1c.247G>C (p.Asp83His)
c.505G>C (p.Asp169His)
c.328G>C (p.Asp110His)
c.460G>C (p.Asp154His)
n.700G>C
6g.33432802G=CA1620010215SYNGAP1c.247G= (p.Asp83=)
c.505G= (p.Asp169=)
c.328G= (p.Asp110=)
c.460G= (p.Asp154=)
n.700G=
6g.33432802G>TCA363680896SYNGAP1c.247G>T (p.Asp83Tyr)
c.505G>T (p.Asp169Tyr)
c.328G>T (p.Asp110Tyr)
c.460G>T (p.Asp154Tyr)
n.700G>T
6g.33432803A>CCA363680898SYNGAP1c.248A>C (p.Asp83Ala)
c.506A>C (p.Asp169Ala)
c.329A>C (p.Asp110Ala)
c.461A>C (p.Asp154Ala)
n.701A>C
6g.33432803A>GCA363680900SYNGAP1c.248A>G (p.Asp83Gly)
c.506A>G (p.Asp169Gly)
c.329A>G (p.Asp110Gly)
c.461A>G (p.Asp154Gly)
n.701A>G
6g.33432803A>TCA363680907SYNGAP1c.248A>T (p.Asp83Val)
c.506A>T (p.Asp169Val)
c.329A>T (p.Asp110Val)
c.461A>T (p.Asp154Val)
n.701A>T
6g.33432804C>ACA363680910SYNGAP1c.249C>A (p.Asp83Glu)
c.507C>A (p.Asp169Glu)
c.330C>A (p.Asp110Glu)
c.462C>A (p.Asp154Glu)
n.702C>A
6g.33432804C>GCA363680912SYNGAP1c.249C>G (p.Asp83Glu)
c.507C>G (p.Asp169Glu)
c.330C>G (p.Asp110Glu)
c.462C>G (p.Asp154Glu)
n.702C>G
6g.33432804C>TCA449860590SYNGAP1c.249C>T (p.Asp83=)
c.507C>T (p.Asp169=)
c.330C>T (p.Asp110=)
c.462C>T (p.Asp154=)
n.702C>T
6g.33432805C>ACA449860593SYNGAP1c.250C>A (p.Arg84=)
c.508C>A (p.Arg170=)
c.331C>A (p.Arg111=)
c.463C>A (p.Arg155=)
n.703C>A
6g.33432805C=CA1620010216SYNGAP1c.250C= (p.Arg84=)
c.508C= (p.Arg170=)
c.331C= (p.Arg111=)
c.463C= (p.Arg155=)
n.703C=
6g.33432805C>GCA363680914SYNGAP1c.250C>G (p.Arg84Gly)
c.508C>G (p.Arg170Gly)
c.331C>G (p.Arg111Gly)
c.463C>G (p.Arg155Gly)
n.703C>G
6g.33432805C>TCA363680916SYNGAP1c.250C>T (p.Arg84Trp)
c.508C>T (p.Arg170Trp)
c.331C>T (p.Arg111Trp)
c.463C>T (p.Arg155Trp)
n.703C>T
 ClinVar dbSNP COSMIC COSMIC
6g.33432806G>ACA16044319SYNGAP1c.251G>A (p.Arg84Gln)
c.509G>A (p.Arg170Gln)
c.332G>A (p.Arg111Gln)
c.464G>A (p.Arg155Gln)
n.704G>A
 ClinVar dbSNP
6g.33432806G>CCA363680920SYNGAP1c.251G>C (p.Arg84Pro)
c.509G>C (p.Arg170Pro)
c.332G>C (p.Arg111Pro)
c.464G>C (p.Arg155Pro)
n.704G>C
6g.33432806G=CA1620010217SYNGAP1c.251G= (p.Arg84=)
c.509G= (p.Arg170=)
c.332G= (p.Arg111=)
c.464G= (p.Arg155=)
n.704G=
6g.33432806G>TCA363680922SYNGAP1c.251G>T (p.Arg84Leu)
c.509G>T (p.Arg170Leu)
c.332G>T (p.Arg111Leu)
c.464G>T (p.Arg155Leu)
n.704G>T
6g.33432807G>ACA363680930SYNGAP1c.251+1G>A (n.251+1G>A)
c.509+1G>A (n.509+1G>A)
c.332+1G>A (n.332+1G>A)
c.464+1G>A (n.464+1G>A)
n.704+1G>A
 ClinVar dbSNP COSMIC COSMIC
6g.33432807G>CCA363680925SYNGAP1c.251+1G>C (n.251+1G>C)
c.509+1G>C (n.509+1G>C)
c.332+1G>C (n.332+1G>C)
c.464+1G>C (n.464+1G>C)
n.704+1G>C
6g.33432807G=CA1620010218SYNGAP1c.251+1G= (n.251+1G=)
c.509+1G= (n.509+1G=)
c.332+1G= (n.332+1G=)
c.464+1G= (n.464+1G=)
n.704+1G=
6g.33432807G>TCA363680927SYNGAP1c.251+1G>T (n.251+1G>T)
c.509+1G>T (n.509+1G>T)
c.332+1G>T (n.332+1G>T)
c.464+1G>T (n.464+1G>T)
n.704+1G>T
 ClinVar dbSNP
6g.33432808T>ACA363680934SYNGAP1c.251+2T>A (n.251+2T>A)
c.509+2T>A (n.509+2T>A)
c.332+2T>A (n.332+2T>A)
c.464+2T>A (n.464+2T>A)
n.704+2T>A
6g.33432808T>CCA363680937SYNGAP1c.251+2T>C (n.251+2T>C)
c.509+2T>C (n.509+2T>C)
c.332+2T>C (n.332+2T>C)
c.464+2T>C (n.464+2T>C)
n.704+2T>C
6g.33432808T>GCA363680939SYNGAP1c.251+2T>G (n.251+2T>G)
c.509+2T>G (n.509+2T>G)
c.332+2T>G (n.332+2T>G)
c.464+2T>G (n.464+2T>G)
n.704+2T>G
6g.33432811A=CA1620010220SYNGAP1c.251+5A= (n.251+5A=)
c.509+5A= (n.509+5A=)
c.332+5A= (n.332+5A=)
c.464+5A= (n.464+5A=)
n.704+5A=
6g.33432811A>CCA3758500SYNGAP1c.251+5A>C (n.251+5A>C)
c.509+5A>C (n.509+5A>C)
c.332+5A>C (n.332+5A>C)
c.464+5A>C (n.464+5A>C)
n.704+5A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33432811A>GCA1620010219SYNGAP1c.251+5A>G (n.251+5A>G)
c.509+5A>G (n.509+5A>G)
c.332+5A>G (n.332+5A>G)
c.464+5A>G (n.464+5A>G)
n.704+5A>G
 dbSNP gnomAD v4
6g.33432812G>ACA2578585357SYNGAP1c.251+6G>A (n.251+6G>A)
c.509+6G>A (n.509+6G>A)
c.332+6G>A (n.332+6G>A)
c.464+6G>A (n.464+6G>A)
n.704+6G>A
6g.33432818G>ACA2578585358SYNGAP1c.251+12G>A (n.251+12G>A)
c.509+12G>A (n.509+12G>A)
c.332+12G>A (n.332+12G>A)
c.464+12G>A (n.464+12G>A)
n.704+12G>A
 gnomAD v4
6g.33432820A=CA1620010221SYNGAP1c.251+14A= (n.251+14A=)
c.509+14A= (n.509+14A=)
c.332+14A= (n.332+14A=)
c.464+14A= (n.464+14A=)
n.704+14A=
6g.33432820A>GCA137097008SYNGAP1c.251+14A>G (n.251+14A>G)
c.509+14A>G (n.509+14A>G)
c.332+14A>G (n.332+14A>G)
c.464+14A>G (n.464+14A>G)
n.704+14A>G
 ClinVar dbSNP
6g.33432821G>CCA2578585359SYNGAP1c.251+15G>C (n.251+15G>C)
c.509+15G>C (n.509+15G>C)
c.332+15G>C (n.332+15G>C)
c.464+15G>C (n.464+15G>C)
n.704+15G>C
6g.33432822C>TCA2678271172SYNGAP1c.251+16C>T (n.251+16C>T)
c.509+16C>T (n.509+16C>T)
c.332+16C>T (n.332+16C>T)
c.464+16C>T (n.464+16C>T)
n.704+16C>T
 gnomAD v4
6g.33432823A=CA1620010222SYNGAP1c.251+17A= (n.251+17A=)
c.509+17A= (n.509+17A=)
c.332+17A= (n.332+17A=)
c.464+17A= (n.464+17A=)
n.704+17A=
6g.33432823A>GCA3758501SYNGAP1c.251+17A>G (n.251+17A>G)
c.509+17A>G (n.509+17A>G)
c.332+17A>G (n.332+17A>G)
c.464+17A>G (n.464+17A>G)
n.704+17A>G
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched