Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33435154C>ACA363681966SYNGAP1c.254C>A (p.Ala85Asp)
c.512C>A (p.Ala171Asp)
c.335C>A (p.Ala112Asp)
c.467C>A (p.Ala156Asp)
n.707C>A
6g.33435154C=CA1620011301SYNGAP1c.254C= (p.Ala85=)
c.512C= (p.Ala171=)
c.335C= (p.Ala112=)
c.467C= (p.Ala156=)
n.707C=
6g.33435154C>GCA363681967SYNGAP1c.254C>G (p.Ala85Gly)
c.512C>G (p.Ala171Gly)
c.335C>G (p.Ala112Gly)
c.467C>G (p.Ala156Gly)
n.707C>G
6g.33435154C>TCA363681968SYNGAP1c.254C>T (p.Ala85Val)
c.512C>T (p.Ala171Val)
c.335C>T (p.Ala112Val)
c.467C>T (p.Ala156Val)
n.707C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33435155C>ACA450106883SYNGAP1c.255C>A (p.Ala85=)
c.513C>A (p.Ala171=)
c.336C>A (p.Ala112=)
c.468C>A (p.Ala156=)
n.708C>A
6g.33435155C>GCA450106881SYNGAP1c.255C>G (p.Ala85=)
c.513C>G (p.Ala171=)
c.336C>G (p.Ala112=)
c.468C>G (p.Ala156=)
n.708C>G
6g.33435155C>TCA450106882SYNGAP1c.255C>T (p.Ala85=)
c.513C>T (p.Ala171=)
c.336C>T (p.Ala112=)
c.468C>T (p.Ala156=)
n.708C>T
6g.33435156C>ACA450106884SYNGAP1c.256C>A (p.Arg86=)
c.514C>A (p.Arg172=)
c.337C>A (p.Arg113=)
c.469C>A (p.Arg157=)
n.709C>A
 ClinVar
6g.33435156C=CA1620011302SYNGAP1c.256C= (p.Arg86=)
c.514C= (p.Arg172=)
c.337C= (p.Arg113=)
c.469C= (p.Arg157=)
n.709C=
6g.33435156C>GCA363681969SYNGAP1c.256C>G (p.Arg86Gly)
c.514C>G (p.Arg172Gly)
c.337C>G (p.Arg113Gly)
c.469C>G (p.Arg157Gly)
n.709C>G
6g.33435156C>TCA3758524SYNGAP1c.256C>T (p.Arg86Trp)
c.514C>T (p.Arg172Trp)
c.337C>T (p.Arg113Trp)
c.469C>T (p.Arg157Trp)
n.709C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33435157G>ACA363681970SYNGAP1c.257G>A (p.Arg86Gln)
c.515G>A (p.Arg172Gln)
c.338G>A (p.Arg113Gln)
c.470G>A (p.Arg157Gln)
n.710G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33435157G>CCA363681971SYNGAP1c.257G>C (p.Arg86Pro)
c.515G>C (p.Arg172Pro)
c.338G>C (p.Arg113Pro)
c.470G>C (p.Arg157Pro)
n.710G>C
6g.33435157G=CA1620011303SYNGAP1c.257G= (p.Arg86=)
c.515G= (p.Arg172=)
c.338G= (p.Arg113=)
c.470G= (p.Arg157=)
n.710G=
6g.33435157G>TCA363681972SYNGAP1c.257G>T (p.Arg86Leu)
c.515G>T (p.Arg172Leu)
c.338G>T (p.Arg113Leu)
c.470G>T (p.Arg157Leu)
n.710G>T
6g.33435158G>ACA450106885SYNGAP1c.258G>A (p.Arg86=)
c.516G>A (p.Arg172=)
c.339G>A (p.Arg113=)
c.471G>A (p.Arg157=)
n.711G>A
6g.33435158G>CCA450106886SYNGAP1c.258G>C (p.Arg86=)
c.516G>C (p.Arg172=)
c.339G>C (p.Arg113=)
c.471G>C (p.Arg157=)
n.711G>C
6g.33435158G>TCA450106887SYNGAP1c.258G>T (p.Arg86=)
c.516G>T (p.Arg172=)
c.339G>T (p.Arg113=)
c.471G>T (p.Arg157=)
n.711G>T
6g.33435159C>ACA363681973SYNGAP1c.259C>A (p.Leu87Met)
c.517C>A (p.Leu173Met)
c.340C>A (p.Leu114Met)
c.472C>A (p.Leu158Met)
n.712C>A
6g.33435159C>GCA363681974SYNGAP1c.259C>G (p.Leu87Val)
c.517C>G (p.Leu173Val)
c.340C>G (p.Leu114Val)
c.472C>G (p.Leu158Val)
n.712C>G
6g.33435159C>TCA450106888SYNGAP1c.259C>T (p.Leu87=)
c.517C>T (p.Leu173=)
c.340C>T (p.Leu114=)
c.472C>T (p.Leu158=)
n.712C>T
6g.33435160T>ACA363681975SYNGAP1c.260T>A (p.Leu87Gln)
c.518T>A (p.Leu173Gln)
c.341T>A (p.Leu114Gln)
c.473T>A (p.Leu158Gln)
n.713T>A
6g.33435160T>CCA363681976SYNGAP1c.260T>C (p.Leu87Pro)
c.518T>C (p.Leu173Pro)
c.341T>C (p.Leu114Pro)
c.473T>C (p.Leu158Pro)
n.713T>C
6g.33435160T>GCA363681977SYNGAP1c.260T>G (p.Leu87Arg)
c.518T>G (p.Leu173Arg)
c.341T>G (p.Leu114Arg)
c.473T>G (p.Leu158Arg)
n.713T>G
6g.33435161G>ACA3758525SYNGAP1c.261G>A (p.Leu87=)
c.519G>A (p.Leu173=)
c.342G>A (p.Leu114=)
c.474G>A (p.Leu158=)
n.714G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33435161G>CCA450106889SYNGAP1c.261G>C (p.Leu87=)
c.519G>C (p.Leu173=)
c.342G>C (p.Leu114=)
c.474G>C (p.Leu158=)
n.714G>C
6g.33435161G=CA1620011304SYNGAP1c.261G= (p.Leu87=)
c.519G= (p.Leu173=)
c.342G= (p.Leu114=)
c.474G= (p.Leu158=)
n.714G=
6g.33435161G>TCA450106890SYNGAP1c.261G>T (p.Leu87=)
c.519G>T (p.Leu173=)
c.342G>T (p.Leu114=)
c.474G>T (p.Leu158=)
n.714G>T
6g.33435162A=CA1620011305SYNGAP1c.262A= (p.Met88=)
c.520A= (p.Met174=)
c.343A= (p.Met115=)
c.475A= (p.Met159=)
n.715A=
6g.33435162A>CCA363681978SYNGAP1c.262A>C (p.Met88Leu)
c.520A>C (p.Met174Leu)
c.343A>C (p.Met115Leu)
c.475A>C (p.Met159Leu)
n.715A>C
6g.33435162A>GCA3758526SYNGAP1c.262A>G (p.Met88Val)
c.520A>G (p.Met174Val)
c.343A>G (p.Met115Val)
c.475A>G (p.Met159Val)
n.715A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33435162A>TCA363681979SYNGAP1c.262A>T (p.Met88Leu)
c.520A>T (p.Met174Leu)
c.343A>T (p.Met115Leu)
c.475A>T (p.Met159Leu)
n.715A>T
6g.33435163T>ACA363681980SYNGAP1c.263T>A (p.Met88Lys)
c.521T>A (p.Met174Lys)
c.344T>A (p.Met115Lys)
c.476T>A (p.Met159Lys)
n.716T>A
6g.33435163T>CCA363681981SYNGAP1c.263T>C (p.Met88Thr)
c.521T>C (p.Met174Thr)
c.344T>C (p.Met115Thr)
c.476T>C (p.Met159Thr)
n.716T>C
6g.33435163T>GCA363681982SYNGAP1c.263T>G (p.Met88Arg)
c.521T>G (p.Met174Arg)
c.344T>G (p.Met115Arg)
c.476T>G (p.Met159Arg)
n.716T>G
6g.33435164G>ACA363681983SYNGAP1c.264G>A (p.Met88Ile)
c.522G>A (p.Met174Ile)
c.345G>A (p.Met115Ile)
c.477G>A (p.Met159Ile)
n.717G>A
 gnomAD v4
6g.33435164G>CCA363681985SYNGAP1c.264G>C (p.Met88Ile)
c.522G>C (p.Met174Ile)
c.345G>C (p.Met115Ile)
c.477G>C (p.Met159Ile)
n.717G>C
6g.33435164G>TCA363681984SYNGAP1c.264G>T (p.Met88Ile)
c.522G>T (p.Met174Ile)
c.345G>T (p.Met115Ile)
c.477G>T (p.Met159Ile)
n.717G>T
6g.33435165C>ACA363681986SYNGAP1c.265C>A (p.Gln89Lys)
c.523C>A (p.Gln175Lys)
c.346C>A (p.Gln116Lys)
c.478C>A (p.Gln160Lys)
n.718C>A
6g.33435165C=CA1620011306SYNGAP1c.265C= (p.Gln89=)
c.523C= (p.Gln175=)
c.346C= (p.Gln116=)
c.478C= (p.Gln160=)
n.718C=
6g.33435165C>GCA363681987SYNGAP1c.265C>G (p.Gln89Glu)
c.523C>G (p.Gln175Glu)
c.346C>G (p.Gln116Glu)
c.478C>G (p.Gln160Glu)
n.718C>G
6g.33435165C>TCA363681988SYNGAP1c.265C>T (p.Gln89Ter)
c.523C>T (p.Gln175Ter)
c.346C>T (p.Gln116Ter)
c.478C>T (p.Gln160Ter)
n.718C>T
 dbSNP
6g.33435166A>CCA363681989SYNGAP1c.266A>C (p.Gln89Pro)
c.524A>C (p.Gln175Pro)
c.347A>C (p.Gln116Pro)
c.479A>C (p.Gln160Pro)
n.719A>C
 gnomAD v4
6g.33435166A>GCA363681990SYNGAP1c.266A>G (p.Gln89Arg)
c.524A>G (p.Gln175Arg)
c.347A>G (p.Gln116Arg)
c.479A>G (p.Gln160Arg)
n.719A>G
6g.33435166A>TCA363681991SYNGAP1c.266A>T (p.Gln89Leu)
c.524A>T (p.Gln175Leu)
c.347A>T (p.Gln116Leu)
c.479A>T (p.Gln160Leu)
n.719A>T
6g.33435167A>CCA363681992SYNGAP1c.267A>C (p.Gln89His)
c.525A>C (p.Gln175His)
c.348A>C (p.Gln116His)
c.480A>C (p.Gln160His)
n.720A>C
6g.33435167A>GCA450106891SYNGAP1c.267A>G (p.Gln89=)
c.525A>G (p.Gln175=)
c.348A>G (p.Gln116=)
c.480A>G (p.Gln160=)
n.720A>G
6g.33435167A>TCA363681993SYNGAP1c.267A>T (p.Gln89His)
c.525A>T (p.Gln175His)
c.348A>T (p.Gln116His)
c.480A>T (p.Gln160His)
n.720A>T
6g.33435168A>CCA363681994SYNGAP1c.268A>C (p.Ser90Arg)
c.526A>C (p.Ser176Arg)
c.349A>C (p.Ser117Arg)
c.481A>C (p.Ser161Arg)
n.721A>C
6g.33435168A>GCA363681995SYNGAP1c.268A>G (p.Ser90Gly)
c.526A>G (p.Ser176Gly)
c.349A>G (p.Ser117Gly)
c.481A>G (p.Ser161Gly)
n.721A>G
 ClinVar gnomAD v4
6g.33435168A>TCA363681996SYNGAP1c.268A>T (p.Ser90Cys)
c.526A>T (p.Ser176Cys)
c.349A>T (p.Ser117Cys)
c.481A>T (p.Ser161Cys)
n.721A>T
6g.33435169G>ACA363681997SYNGAP1c.269G>A (p.Ser90Asn)
c.527G>A (p.Ser176Asn)
c.350G>A (p.Ser117Asn)
c.482G>A (p.Ser161Asn)
n.722G>A
 gnomAD v4
6g.33435169G>CCA363681999SYNGAP1c.269G>C (p.Ser90Thr)
c.527G>C (p.Ser176Thr)
c.350G>C (p.Ser117Thr)
c.482G>C (p.Ser161Thr)
n.722G>C
6g.33435169G>TCA363681998SYNGAP1c.269G>T (p.Ser90Ile)
c.527G>T (p.Ser176Ile)
c.350G>T (p.Ser117Ile)
c.482G>T (p.Ser161Ile)
n.722G>T
6g.33435170C>ACA363682000SYNGAP1c.270C>A (p.Ser90Arg)
c.528C>A (p.Ser176Arg)
c.351C>A (p.Ser117Arg)
c.483C>A (p.Ser161Arg)
n.723C>A
6g.33435170C>GCA363682001SYNGAP1c.270C>G (p.Ser90Arg)
c.528C>G (p.Ser176Arg)
c.351C>G (p.Ser117Arg)
c.483C>G (p.Ser161Arg)
n.723C>G
6g.33435170C>TCA450106892SYNGAP1c.270C>T (p.Ser90=)
c.528C>T (p.Ser176=)
c.351C>T (p.Ser117=)
c.483C>T (p.Ser161=)
n.723C>T
6g.33435171T>ACA363682002SYNGAP1c.271T>A (p.Phe91Ile)
c.529T>A (p.Phe177Ile)
c.352T>A (p.Phe118Ile)
c.484T>A (p.Phe162Ile)
n.724T>A
6g.33435171T>CCA363682003SYNGAP1c.271T>C (p.Phe91Leu)
c.529T>C (p.Phe177Leu)
c.352T>C (p.Phe118Leu)
c.484T>C (p.Phe162Leu)
n.724T>C
6g.33435171T>GCA363682004SYNGAP1c.271T>G (p.Phe91Val)
c.529T>G (p.Phe177Val)
c.352T>G (p.Phe118Val)
c.484T>G (p.Phe162Val)
n.724T>G
6g.33435172T>ACA363682005SYNGAP1c.272T>A (p.Phe91Tyr)
c.530T>A (p.Phe177Tyr)
c.353T>A (p.Phe118Tyr)
c.485T>A (p.Phe162Tyr)
n.725T>A
6g.33435172T>CCA363682006SYNGAP1c.272T>C (p.Phe91Ser)
c.530T>C (p.Phe177Ser)
c.353T>C (p.Phe118Ser)
c.485T>C (p.Phe162Ser)
n.725T>C
6g.33435172T>GCA363682007SYNGAP1c.272T>G (p.Phe91Cys)
c.530T>G (p.Phe177Cys)
c.353T>G (p.Phe118Cys)
c.485T>G (p.Phe162Cys)
n.725T>G
6g.33435173T>ACA363682008SYNGAP1c.273T>A (p.Phe91Leu)
c.531T>A (p.Phe177Leu)
c.354T>A (p.Phe118Leu)
c.486T>A (p.Phe162Leu)
n.726T>A
6g.33435173T>CCA450106893SYNGAP1c.273T>C (p.Phe91=)
c.531T>C (p.Phe177=)
c.354T>C (p.Phe118=)
c.486T>C (p.Phe162=)
n.726T>C
6g.33435173T>GCA363682009SYNGAP1c.273T>G (p.Phe91Leu)
c.531T>G (p.Phe177Leu)
c.354T>G (p.Phe118Leu)
c.486T>G (p.Phe162Leu)
n.726T>G
6g.33435173_33435174delCA2695202899SYNGAP1c.273_274del (p.Phe91LeufsTer7)
c.531_532del (p.Phe177LeufsTer7)
c.354_355del (p.Phe118LeufsTer7)
c.486_487del (p.Phe162LeufsTer7)
n.726_727del
 ClinVar
6g.33435174A=CA1620011307SYNGAP1c.274A= (p.Lys92=)
c.532A= (p.Lys178=)
c.355A= (p.Lys119=)
c.487A= (p.Lys163=)
n.727A=
6g.33435174A>CCA363682010SYNGAP1c.274A>C (p.Lys92Gln)
c.532A>C (p.Lys178Gln)
c.355A>C (p.Lys119Gln)
c.487A>C (p.Lys163Gln)
n.727A>C
6g.33435174A>GCA363682011SYNGAP1c.274A>G (p.Lys92Glu)
c.532A>G (p.Lys178Glu)
c.355A>G (p.Lys119Glu)
c.487A>G (p.Lys163Glu)
n.727A>G
6g.33435174A>TCA363682012SYNGAP1c.274A>T (p.Lys92Ter)
c.532A>T (p.Lys178Ter)
c.355A>T (p.Lys119Ter)
c.487A>T (p.Lys163Ter)
n.727A>T
 dbSNP
6g.33435175A=CA1620011308SYNGAP1c.275A= (p.Lys92=)
c.533A= (p.Lys178=)
c.356A= (p.Lys119=)
c.488A= (p.Lys163=)
n.728A=
6g.33435175A>CCA363682013SYNGAP1c.275A>C (p.Lys92Thr)
c.533A>C (p.Lys178Thr)
c.356A>C (p.Lys119Thr)
c.488A>C (p.Lys163Thr)
n.728A>C
6g.33435175A>GCA3758527SYNGAP1c.275A>G (p.Lys92Arg)
c.533A>G (p.Lys178Arg)
c.356A>G (p.Lys119Arg)
c.488A>G (p.Lys163Arg)
n.728A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33435175A>TCA363682014SYNGAP1c.275A>T (p.Lys92Met)
c.533A>T (p.Lys178Met)
c.356A>T (p.Lys119Met)
c.488A>T (p.Lys163Met)
n.728A>T
6g.33435175_33435176delinsAGCA1620011309SYNGAP1c.275_276delinsAG (p.Lys92=)
c.533_534delinsAG (p.Lys178=)
c.356_357delinsAG (p.Lys119=)
c.488_489delinsAG (p.Lys163=)
n.728_729delinsAG
6g.33435176G>ACA450106894SYNGAP1c.276G>A (p.Lys92=)
c.534G>A (p.Lys178=)
c.357G>A (p.Lys119=)
c.489G>A (p.Lys163=)
n.729G>A
 gnomAD v4
6g.33435176G>CCA363682015SYNGAP1c.276G>C (p.Lys92Asn)
c.534G>C (p.Lys178Asn)
c.357G>C (p.Lys119Asn)
c.489G>C (p.Lys163Asn)
n.729G>C
6g.33435176G>TCA363682016SYNGAP1c.276G>T (p.Lys92Asn)
c.534G>T (p.Lys178Asn)
c.357G>T (p.Lys119Asn)
c.489G>T (p.Lys163Asn)
n.729G>T
6g.33435177delCA236444SYNGAP1c.277del (p.Glu93SerfsTer9)
c.535del (p.Glu179SerfsTer9)
c.358del (p.Glu120SerfsTer9)
c.490del (p.Glu164SerfsTer9)
n.730del
 ClinVar dbSNP
6g.33435177G>ACA363682017SYNGAP1c.277G>A (p.Glu93Lys)
c.535G>A (p.Glu179Lys)
c.358G>A (p.Glu120Lys)
c.490G>A (p.Glu164Lys)
n.730G>A
6g.33435177G>CCA363682018SYNGAP1c.277G>C (p.Glu93Gln)
c.535G>C (p.Glu179Gln)
c.358G>C (p.Glu120Gln)
c.490G>C (p.Glu164Gln)
n.730G>C
6g.33435177G=CA1620011310SYNGAP1c.277G= (p.Glu93=)
c.535G= (p.Glu179=)
c.358G= (p.Glu120=)
c.490G= (p.Glu164=)
n.730G=
6g.33435177G>TCA363682019SYNGAP1c.277G>T (p.Glu93Ter)
c.535G>T (p.Glu179Ter)
c.358G>T (p.Glu120Ter)
c.490G>T (p.Glu164Ter)
n.730G>T
 dbSNP
6g.33435178A>CCA363682020SYNGAP1c.278A>C (p.Glu93Ala)
c.536A>C (p.Glu179Ala)
c.359A>C (p.Glu120Ala)
c.491A>C (p.Glu164Ala)
n.731A>C
6g.33435178A>GCA363682021SYNGAP1c.278A>G (p.Glu93Gly)
c.536A>G (p.Glu179Gly)
c.359A>G (p.Glu120Gly)
c.491A>G (p.Glu164Gly)
n.731A>G
6g.33435178A>TCA363682022SYNGAP1c.278A>T (p.Glu93Val)
c.536A>T (p.Glu179Val)
c.359A>T (p.Glu120Val)
c.491A>T (p.Glu164Val)
n.731A>T
6g.33435179G>ACA450106895SYNGAP1c.279G>A (p.Glu93=)
c.537G>A (p.Glu179=)
c.360G>A (p.Glu120=)
c.492G>A (p.Glu164=)
n.732G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33435179G>CCA363682023SYNGAP1c.279G>C (p.Glu93Asp)
c.537G>C (p.Glu179Asp)
c.360G>C (p.Glu120Asp)
c.492G>C (p.Glu164Asp)
n.732G>C
6g.33435179G=CA1620011311SYNGAP1c.279G= (p.Glu93=)
c.537G= (p.Glu179=)
c.360G= (p.Glu120=)
c.492G= (p.Glu164=)
n.732G=
6g.33435179G>TCA363682024SYNGAP1c.279G>T (p.Glu93Asp)
c.537G>T (p.Glu179Asp)
c.360G>T (p.Glu120Asp)
c.492G>T (p.Glu164Asp)
n.732G>T
6g.33435180T>ACA363682026SYNGAP1c.280T>A (p.Ser94Thr)
c.538T>A (p.Ser180Thr)
c.361T>A (p.Ser121Thr)
c.493T>A (p.Ser165Thr)
n.733T>A
6g.33435180T>CCA363682027SYNGAP1c.280T>C (p.Ser94Pro)
c.538T>C (p.Ser180Pro)
c.361T>C (p.Ser121Pro)
c.493T>C (p.Ser165Pro)
n.733T>C
6g.33435180T>GCA363682025SYNGAP1c.280T>G (p.Ser94Ala)
c.538T>G (p.Ser180Ala)
c.361T>G (p.Ser121Ala)
c.493T>G (p.Ser165Ala)
n.733T>G
6g.33435180T=CA1620011312SYNGAP1c.280T= (p.Ser94=)
c.538T= (p.Ser180=)
c.361T= (p.Ser121=)
c.493T= (p.Ser165=)
n.733T=
6g.33435181C>ACA363682029SYNGAP1c.281C>A (p.Ser94Ter)
c.539C>A (p.Ser180Ter)
c.362C>A (p.Ser121Ter)
c.494C>A (p.Ser165Ter)
n.734C>A
6g.33435181C>GCA363682028SYNGAP1c.281C>G (p.Ser94Ter)
c.539C>G (p.Ser180Ter)
c.362C>G (p.Ser121Ter)
c.494C>G (p.Ser165Ter)
n.734C>G
6g.33435181C>TCA363682030SYNGAP1c.281C>T (p.Ser94Leu)
c.539C>T (p.Ser180Leu)
c.362C>T (p.Ser121Leu)
c.494C>T (p.Ser165Leu)
n.734C>T
6g.33435181dupCA913190066SYNGAP1c.281dup (p.His95ThrfsTer4)
c.539dup (p.His181ThrfsTer4)
c.362dup (p.His122ThrfsTer4)
c.494dup (p.His166ThrfsTer4)
n.734dup
 ClinVar dbSNP
6g.33435182A>CCA450106896SYNGAP1c.282A>C (p.Ser94=)
c.540A>C (p.Ser180=)
c.363A>C (p.Ser121=)
c.495A>C (p.Ser165=)
n.735A>C
6g.33435182A>GCA450106897SYNGAP1c.282A>G (p.Ser94=)
c.540A>G (p.Ser180=)
c.363A>G (p.Ser121=)
c.495A>G (p.Ser165=)
n.735A>G
6g.33435182A>TCA450106898SYNGAP1c.282A>T (p.Ser94=)
c.540A>T (p.Ser180=)
c.363A>T (p.Ser121=)
c.495A>T (p.Ser165=)
n.735A>T
6g.33435183C>ACA363682031SYNGAP1c.283C>A (p.His95Asn)
c.541C>A (p.His181Asn)
c.364C>A (p.His122Asn)
c.496C>A (p.His166Asn)
n.736C>A
6g.33435183C>GCA363682032SYNGAP1c.283C>G (p.His95Asp)
c.541C>G (p.His181Asp)
c.364C>G (p.His122Asp)
c.496C>G (p.His166Asp)
n.736C>G
6g.33435183C>TCA363682033SYNGAP1c.283C>T (p.His95Tyr)
c.541C>T (p.His181Tyr)
c.364C>T (p.His122Tyr)
c.496C>T (p.His166Tyr)
n.736C>T
 dbSNP gnomAD v4
6g.33435184A>CCA363682034SYNGAP1c.284A>C (p.His95Pro)
c.542A>C (p.His181Pro)
c.365A>C (p.His122Pro)
c.497A>C (p.His166Pro)
n.737A>C
6g.33435184A>GCA363682035SYNGAP1c.284A>G (p.His95Arg)
c.542A>G (p.His181Arg)
c.365A>G (p.His122Arg)
c.497A>G (p.His166Arg)
n.737A>G
6g.33435184A>TCA363682036SYNGAP1c.284A>T (p.His95Leu)
c.542A>T (p.His181Leu)
c.365A>T (p.His122Leu)
c.497A>T (p.His166Leu)
n.737A>T
6g.33435185C>ACA363682037SYNGAP1c.285C>A (p.His95Gln)
c.543C>A (p.His181Gln)
c.366C>A (p.His122Gln)
c.498C>A (p.His166Gln)
n.738C>A
6g.33435185C=CA1620011313SYNGAP1c.285C= (p.His95=)
c.543C= (p.His181=)
c.366C= (p.His122=)
c.498C= (p.His166=)
n.738C=
6g.33435185C>GCA363682038SYNGAP1c.285C>G (p.His95Gln)
c.543C>G (p.His181Gln)
c.366C>G (p.His122Gln)
c.498C>G (p.His166Gln)
n.738C>G
6g.33435185C>TCA450106901SYNGAP1c.285C>T (p.His95=)
c.543C>T (p.His181=)
c.366C>T (p.His122=)
c.498C>T (p.His166=)
n.738C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33435186T>ACA363682039SYNGAP1c.286T>A (p.Ser96Thr)
c.544T>A (p.Ser182Thr)
c.367T>A (p.Ser123Thr)
c.499T>A (p.Ser167Thr)
n.739T>A
6g.33435186T>CCA363682040SYNGAP1c.286T>C (p.Ser96Pro)
c.544T>C (p.Ser182Pro)
c.367T>C (p.Ser123Pro)
c.499T>C (p.Ser167Pro)
n.739T>C
6g.33435186T>GCA363682041SYNGAP1c.286T>G (p.Ser96Ala)
c.544T>G (p.Ser182Ala)
c.367T>G (p.Ser123Ala)
c.499T>G (p.Ser167Ala)
n.739T>G
6g.33435187C>ACA363682044SYNGAP1c.287C>A (p.Ser96Tyr)
c.545C>A (p.Ser182Tyr)
c.368C>A (p.Ser123Tyr)
c.500C>A (p.Ser167Tyr)
n.740C>A
6g.33435187C>GCA363682043SYNGAP1c.287C>G (p.Ser96Cys)
c.545C>G (p.Ser182Cys)
c.368C>G (p.Ser123Cys)
c.500C>G (p.Ser167Cys)
n.740C>G
6g.33435187C>TCA363682042SYNGAP1c.287C>T (p.Ser96Phe)
c.545C>T (p.Ser182Phe)
c.368C>T (p.Ser123Phe)
c.500C>T (p.Ser167Phe)
n.740C>T
6g.33435188T>ACA450106905SYNGAP1c.288T>A (p.Ser96=)
c.546T>A (p.Ser182=)
c.369T>A (p.Ser123=)
c.501T>A (p.Ser167=)
n.741T>A
6g.33435188T>CCA3758528SYNGAP1c.288T>C (p.Ser96=)
c.546T>C (p.Ser182=)
c.369T>C (p.Ser123=)
c.501T>C (p.Ser167=)
n.741T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33435188T>GCA450106906SYNGAP1c.288T>G (p.Ser96=)
c.546T>G (p.Ser182=)
c.369T>G (p.Ser123=)
c.501T>G (p.Ser167=)
n.741T>G
6g.33435188T=CA1620011314SYNGAP1c.288T= (p.Ser96=)
c.546T= (p.Ser182=)
c.369T= (p.Ser123=)
c.501T= (p.Ser167=)
n.741T=
6g.33435189C>ACA363682045SYNGAP1c.289C>A (p.His97Asn)
c.547C>A (p.His183Asn)
c.370C>A (p.His124Asn)
c.502C>A (p.His168Asn)
n.742C>A
6g.33435189C>GCA363682046SYNGAP1c.289C>G (p.His97Asp)
c.547C>G (p.His183Asp)
c.370C>G (p.His124Asp)
c.502C>G (p.His168Asp)
n.742C>G
6g.33435189C>TCA363682047SYNGAP1c.289C>T (p.His97Tyr)
c.547C>T (p.His183Tyr)
c.370C>T (p.His124Tyr)
c.502C>T (p.His168Tyr)
n.742C>T
6g.33435190A>CCA363682048SYNGAP1c.290A>C (p.His97Pro)
c.548A>C (p.His183Pro)
c.371A>C (p.His124Pro)
c.503A>C (p.His168Pro)
n.743A>C
6g.33435190A>GCA363682049SYNGAP1c.290A>G (p.His97Arg)
c.548A>G (p.His183Arg)
c.371A>G (p.His124Arg)
c.503A>G (p.His168Arg)
n.743A>G
6g.33435190A>TCA363682050SYNGAP1c.290A>T (p.His97Leu)
c.548A>T (p.His183Leu)
c.371A>T (p.His124Leu)
c.503A>T (p.His168Leu)
n.743A>T
6g.33435191T>ACA363682051SYNGAP1c.291T>A (p.His97Gln)
c.549T>A (p.His183Gln)
c.372T>A (p.His124Gln)
c.504T>A (p.His168Gln)
n.744T>A
6g.33435191T>CCA450106910SYNGAP1c.291T>C (p.His97=)
c.549T>C (p.His183=)
c.372T>C (p.His124=)
c.504T>C (p.His168=)
n.744T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33435191T>GCA363682052SYNGAP1c.291T>G (p.His97Gln)
c.549T>G (p.His183Gln)
c.372T>G (p.His124Gln)
c.504T>G (p.His168Gln)
n.744T>G
 COSMIC COSMIC
6g.33435191T=CA1620011315SYNGAP1c.291T= (p.His97=)
c.549T= (p.His183=)
c.372T= (p.His124=)
c.504T= (p.His168=)
n.744T=
6g.33435192G>ACA363682053SYNGAP1c.292G>A (p.Glu98Lys)
c.550G>A (p.Glu184Lys)
c.373G>A (p.Glu125Lys)
c.505G>A (p.Glu169Lys)
n.745G>A
6g.33435192G>CCA363682054SYNGAP1c.292G>C (p.Glu98Gln)
c.550G>C (p.Glu184Gln)
c.373G>C (p.Glu125Gln)
c.505G>C (p.Glu169Gln)
n.745G>C
6g.33435192G=CA1620011316SYNGAP1c.292G= (p.Glu98=)
c.550G= (p.Glu184=)
c.373G= (p.Glu125=)
c.505G= (p.Glu169=)
n.745G=
6g.33435192G>TCA363682055SYNGAP1c.292G>T (p.Glu98Ter)
c.550G>T (p.Glu184Ter)
c.373G>T (p.Glu125Ter)
c.505G>T (p.Glu169Ter)
n.745G>T
 dbSNP
6g.33435193A>CCA363682057SYNGAP1c.293A>C (p.Glu98Ala)
c.551A>C (p.Glu184Ala)
c.374A>C (p.Glu125Ala)
c.506A>C (p.Glu169Ala)
n.746A>C
6g.33435193A>GCA363682058SYNGAP1c.293A>G (p.Glu98Gly)
c.551A>G (p.Glu184Gly)
c.374A>G (p.Glu125Gly)
c.506A>G (p.Glu169Gly)
n.746A>G
6g.33435193A>TCA363682056SYNGAP1c.293A>T (p.Glu98Val)
c.551A>T (p.Glu184Val)
c.374A>T (p.Glu125Val)
c.506A>T (p.Glu169Val)
n.746A>T
6g.33435194G>ACA450106914SYNGAP1c.294G>A (p.Glu98=)
c.552G>A (p.Glu184=)
c.375G>A (p.Glu125=)
c.507G>A (p.Glu169=)
n.747G>A
6g.33435194G>CCA363682059SYNGAP1c.294G>C (p.Glu98Asp)
c.552G>C (p.Glu184Asp)
c.375G>C (p.Glu125Asp)
c.507G>C (p.Glu169Asp)
n.747G>C
6g.33435194G>TCA363682060SYNGAP1c.294G>T (p.Glu98Asp)
c.552G>T (p.Glu184Asp)
c.375G>T (p.Glu125Asp)
c.507G>T (p.Glu169Asp)
n.747G>T
6g.33435195T>ACA363682061SYNGAP1c.295T>A (p.Ser99Thr)
c.553T>A (p.Ser185Thr)
c.376T>A (p.Ser126Thr)
c.508T>A (p.Ser170Thr)
n.748T>A
6g.33435195T>CCA363682062SYNGAP1c.295T>C (p.Ser99Pro)
c.553T>C (p.Ser185Pro)
c.376T>C (p.Ser126Pro)
c.508T>C (p.Ser170Pro)
n.748T>C
6g.33435195T>GCA363682063SYNGAP1c.295T>G (p.Ser99Ala)
c.553T>G (p.Ser185Ala)
c.376T>G (p.Ser126Ala)
c.508T>G (p.Ser170Ala)
n.748T>G
6g.33435196C>ACA363682064SYNGAP1c.296C>A (p.Ser99Tyr)
c.554C>A (p.Ser185Tyr)
c.377C>A (p.Ser126Tyr)
c.509C>A (p.Ser170Tyr)
n.749C>A
6g.33435196C>GCA363682065SYNGAP1c.296C>G (p.Ser99Cys)
c.554C>G (p.Ser185Cys)
c.377C>G (p.Ser126Cys)
c.509C>G (p.Ser170Cys)
n.749C>G
6g.33435196C>TCA363682066SYNGAP1c.296C>T (p.Ser99Phe)
c.554C>T (p.Ser185Phe)
c.377C>T (p.Ser126Phe)
c.509C>T (p.Ser170Phe)
n.749C>T
6g.33435197C>ACA450106919SYNGAP1c.297C>A (p.Ser99=)
c.555C>A (p.Ser185=)
c.378C>A (p.Ser126=)
c.510C>A (p.Ser170=)
n.750C>A
6g.33435197C=CA1620011317SYNGAP1c.297C= (p.Ser99=)
c.555C= (p.Ser185=)
c.378C= (p.Ser126=)
c.510C= (p.Ser170=)
n.750C=
6g.33435197C>GCA450106917SYNGAP1c.297C>G (p.Ser99=)
c.555C>G (p.Ser185=)
c.378C>G (p.Ser126=)
c.510C>G (p.Ser170=)
n.750C>G
6g.33435197C>TCA450106918SYNGAP1c.297C>T (p.Ser99=)
c.555C>T (p.Ser185=)
c.378C>T (p.Ser126=)
c.510C>T (p.Ser170=)
n.750C>T
 ClinVar dbSNP
6g.33435198T>ACA363682067SYNGAP1c.298T>A (p.Leu100Met)
c.556T>A (p.Leu186Met)
c.379T>A (p.Leu127Met)
c.511T>A (p.Leu171Met)
n.751T>A
6g.33435198T>CCA450106920SYNGAP1c.298T>C (p.Leu100=)
c.556T>C (p.Leu186=)
c.379T>C (p.Leu127=)
c.511T>C (p.Leu171=)
n.751T>C
 ClinVar dbSNP
6g.33435198T>GCA363682068SYNGAP1c.298T>G (p.Leu100Val)
c.556T>G (p.Leu186Val)
c.379T>G (p.Leu127Val)
c.511T>G (p.Leu171Val)
n.751T>G
6g.33435199T>ACA363682069SYNGAP1c.299T>A (p.Leu100Ter)
c.557T>A (p.Leu186Ter)
c.380T>A (p.Leu127Ter)
c.512T>A (p.Leu171Ter)
n.752T>A
 dbSNP
6g.33435199T>CCA363682070SYNGAP1c.299T>C (p.Leu100Ser)
c.557T>C (p.Leu186Ser)
c.380T>C (p.Leu127Ser)
c.512T>C (p.Leu171Ser)
n.752T>C
6g.33435199T>GCA363682071SYNGAP1c.299T>G (p.Leu100Trp)
c.557T>G (p.Leu186Trp)
c.380T>G (p.Leu127Trp)
c.512T>G (p.Leu171Trp)
n.752T>G
6g.33435199T=CA1620011318SYNGAP1c.299T= (p.Leu100=)
c.557T= (p.Leu186=)
c.380T= (p.Leu127=)
c.512T= (p.Leu171=)
n.752T=
6g.33435200G>ACA450106924SYNGAP1c.300G>A (p.Leu100=)
c.558G>A (p.Leu186=)
c.381G>A (p.Leu127=)
c.513G>A (p.Leu171=)
n.753G>A
6g.33435200G>CCA363682073SYNGAP1c.300G>C (p.Leu100Phe)
c.558G>C (p.Leu186Phe)
c.381G>C (p.Leu127Phe)
c.513G>C (p.Leu171Phe)
n.753G>C
6g.33435200G>TCA363682072SYNGAP1c.300G>T (p.Leu100Phe)
c.558G>T (p.Leu186Phe)
c.381G>T (p.Leu127Phe)
c.513G>T (p.Leu171Phe)
n.753G>T
6g.33435201C>ACA363682074SYNGAP1c.301C>A (p.Leu101Met)
c.559C>A (p.Leu187Met)
c.382C>A (p.Leu128Met)
c.514C>A (p.Leu172Met)
n.754C>A
6g.33435201C>GCA363682075SYNGAP1c.301C>G (p.Leu101Val)
c.559C>G (p.Leu187Val)
c.382C>G (p.Leu128Val)
c.514C>G (p.Leu172Val)
n.754C>G
6g.33435201C>TCA450106925SYNGAP1c.301C>T (p.Leu101=)
c.559C>T (p.Leu187=)
c.382C>T (p.Leu128=)
c.514C>T (p.Leu172=)
n.754C>T
 gnomAD v4
6g.33435202T>ACA363682076SYNGAP1c.302T>A (p.Leu101Gln)
c.560T>A (p.Leu187Gln)
c.383T>A (p.Leu128Gln)
c.515T>A (p.Leu172Gln)
n.755T>A
6g.33435202T>CCA363682077SYNGAP1c.302T>C (p.Leu101Pro)
c.560T>C (p.Leu187Pro)
c.383T>C (p.Leu128Pro)
c.515T>C (p.Leu172Pro)
n.755T>C
 gnomAD v4
6g.33435202T>GCA363682078SYNGAP1c.302T>G (p.Leu101Arg)
c.560T>G (p.Leu187Arg)
c.383T>G (p.Leu128Arg)
c.515T>G (p.Leu172Arg)
n.755T>G
6g.33435203G>ACA450106931SYNGAP1c.303G>A (p.Leu101=)
c.561G>A (p.Leu187=)
c.384G>A (p.Leu128=)
c.516G>A (p.Leu172=)
n.756G>A
6g.33435203G>CCA450106929SYNGAP1c.303G>C (p.Leu101=)
c.561G>C (p.Leu187=)
c.384G>C (p.Leu128=)
c.516G>C (p.Leu172=)
n.756G>C
6g.33435203G>TCA450106930SYNGAP1c.303G>T (p.Leu101=)
c.561G>T (p.Leu187=)
c.384G>T (p.Leu128=)
c.516G>T (p.Leu172=)
n.756G>T
6g.33435204A>CCA363682079SYNGAP1c.304A>C (p.Ser102Arg)
c.562A>C (p.Ser188Arg)
c.385A>C (p.Ser129Arg)
c.517A>C (p.Ser173Arg)
n.757A>C
6g.33435204A>GCA363682080SYNGAP1c.304A>G (p.Ser102Gly)
c.562A>G (p.Ser188Gly)
c.385A>G (p.Ser129Gly)
c.517A>G (p.Ser173Gly)
n.757A>G
6g.33435204A>TCA363682081SYNGAP1c.304A>T (p.Ser102Cys)
c.562A>T (p.Ser188Cys)
c.385A>T (p.Ser129Cys)
c.517A>T (p.Ser173Cys)
n.757A>T
6g.33435205G>ACA363682082SYNGAP1c.305G>A (p.Ser102Asn)
c.563G>A (p.Ser188Asn)
c.386G>A (p.Ser129Asn)
c.518G>A (p.Ser173Asn)
n.758G>A
6g.33435205G>CCA363682083SYNGAP1c.305G>C (p.Ser102Thr)
c.563G>C (p.Ser188Thr)
c.386G>C (p.Ser129Thr)
c.518G>C (p.Ser173Thr)
n.758G>C
6g.33435205G>TCA363682084SYNGAP1c.305G>T (p.Ser102Ile)
c.563G>T (p.Ser188Ile)
c.386G>T (p.Ser129Ile)
c.518G>T (p.Ser173Ile)
n.758G>T
6g.33435206T>ACA363682085SYNGAP1c.306T>A (p.Ser102Arg)
c.564T>A (p.Ser188Arg)
c.387T>A (p.Ser129Arg)
c.519T>A (p.Ser173Arg)
n.759T>A
6g.33435206T>CCA137097625SYNGAP1c.306T>C (p.Ser102=)
c.564T>C (p.Ser188=)
c.387T>C (p.Ser129=)
c.519T>C (p.Ser173=)
n.759T>C
 dbSNP gnomAD v3 gnomAD v4
6g.33435206T>GCA363682086SYNGAP1c.306T>G (p.Ser102Arg)
c.564T>G (p.Ser188Arg)
c.387T>G (p.Ser129Arg)
c.519T>G (p.Ser173Arg)
n.759T>G
6g.33435206T=CA1620011319SYNGAP1c.306T= (p.Ser102=)
c.564T= (p.Ser188=)
c.387T= (p.Ser129=)
c.519T= (p.Ser173=)
n.759T=
6g.33435207C>ACA363682089SYNGAP1c.307C>A (p.Pro103Thr)
c.565C>A (p.Pro189Thr)
c.388C>A (p.Pro130Thr)
c.520C>A (p.Pro174Thr)
n.760C>A
6g.33435207C>GCA363682088SYNGAP1c.307C>G (p.Pro103Ala)
c.565C>G (p.Pro189Ala)
c.388C>G (p.Pro130Ala)
c.520C>G (p.Pro174Ala)
n.760C>G
6g.33435207C>TCA363682087SYNGAP1c.307C>T (p.Pro103Ser)
c.565C>T (p.Pro189Ser)
c.388C>T (p.Pro130Ser)
c.520C>T (p.Pro174Ser)
n.760C>T
 COSMIC COSMIC
6g.33435208delCA2739289876SYNGAP1c.308del (p.Pro103LeufsTer?)
c.566del (p.Pro189LeufsTer?)
c.389del (p.Pro130LeufsTer?)
c.521del (p.Pro174LeufsTer?)
n.761del
6g.33435208C>ACA363682090SYNGAP1c.308C>A (p.Pro103His)
c.566C>A (p.Pro189His)
c.389C>A (p.Pro130His)
c.521C>A (p.Pro174His)
n.761C>A
6g.33435208C>GCA363682092SYNGAP1c.308C>G (p.Pro103Arg)
c.566C>G (p.Pro189Arg)
c.389C>G (p.Pro130Arg)
c.521C>G (p.Pro174Arg)
n.761C>G
6g.33435208C>TCA363682091SYNGAP1c.308C>T (p.Pro103Leu)
c.566C>T (p.Pro189Leu)
c.389C>T (p.Pro130Leu)
c.521C>T (p.Pro174Leu)
n.761C>T
6g.33435209T>ACA450106934SYNGAP1c.309T>A (p.Pro103=)
c.567T>A (p.Pro189=)
c.390T>A (p.Pro130=)
c.522T>A (p.Pro174=)
n.762T>A
6g.33435209T>CCA450106935SYNGAP1c.309T>C (p.Pro103=)
c.567T>C (p.Pro189=)
c.390T>C (p.Pro130=)
c.522T>C (p.Pro174=)
n.762T>C
6g.33435209T>GCA450106936SYNGAP1c.309T>G (p.Pro103=)
c.567T>G (p.Pro189=)
c.390T>G (p.Pro130=)
c.522T>G (p.Pro174=)
n.762T>G
6g.33435210A>CCA363682093SYNGAP1c.310A>C (p.Ser104Arg)
c.568A>C (p.Ser190Arg)
c.391A>C (p.Ser131Arg)
c.523A>C (p.Ser175Arg)
n.763A>C
6g.33435210A>GCA363682094SYNGAP1c.310A>G (p.Ser104Gly)
c.568A>G (p.Ser190Gly)
c.391A>G (p.Ser131Gly)
c.523A>G (p.Ser175Gly)
n.763A>G
6g.33435210A>TCA363682095SYNGAP1c.310A>T (p.Ser104Cys)
c.568A>T (p.Ser190Cys)
c.391A>T (p.Ser131Cys)
c.523A>T (p.Ser175Cys)
n.763A>T
6g.33435211G>ACA363682096SYNGAP1c.311G>A (p.Ser104Asn)
c.569G>A (p.Ser190Asn)
c.392G>A (p.Ser131Asn)
c.524G>A (p.Ser175Asn)
n.764G>A
6g.33435211G>CCA363682097SYNGAP1c.311G>C (p.Ser104Thr)
c.569G>C (p.Ser190Thr)
c.392G>C (p.Ser131Thr)
c.524G>C (p.Ser175Thr)
n.764G>C
6g.33435211G>TCA363682098SYNGAP1c.311G>T (p.Ser104Ile)
c.569G>T (p.Ser190Ile)
c.392G>T (p.Ser131Ile)
c.524G>T (p.Ser175Ile)
n.764G>T
6g.33435212C>ACA363682099SYNGAP1c.312C>A (p.Ser104Arg)
c.570C>A (p.Ser190Arg)
c.393C>A (p.Ser131Arg)
c.525C>A (p.Ser175Arg)
n.765C>A
6g.33435212C>GCA363682100SYNGAP1c.312C>G (p.Ser104Arg)
c.570C>G (p.Ser190Arg)
c.393C>G (p.Ser131Arg)
c.525C>G (p.Ser175Arg)
n.765C>G
6g.33435212C>TCA450106939SYNGAP1c.312C>T (p.Ser104=)
c.570C>T (p.Ser190=)
c.393C>T (p.Ser131=)
c.525C>T (p.Ser175=)
n.765C>T
 gnomAD v4
6g.33435213A>CCA363682101SYNGAP1c.313A>C (p.Ser105Arg)
c.571A>C (p.Ser191Arg)
c.394A>C (p.Ser132Arg)
c.526A>C (p.Ser176Arg)
n.766A>C
6g.33435213A>GCA363682102SYNGAP1c.313A>G (p.Ser105Gly)
c.571A>G (p.Ser191Gly)
c.394A>G (p.Ser132Gly)
c.526A>G (p.Ser176Gly)
n.766A>G
6g.33435213A>TCA363682103SYNGAP1c.313A>T (p.Ser105Cys)
c.571A>T (p.Ser191Cys)
c.394A>T (p.Ser132Cys)
c.526A>T (p.Ser176Cys)
n.766A>T
6g.33435214G>ACA363682106SYNGAP1c.314G>A (p.Ser105Asn)
c.572G>A (p.Ser191Asn)
c.395G>A (p.Ser132Asn)
c.527G>A (p.Ser176Asn)
n.767G>A
6g.33435214G>CCA363682104SYNGAP1c.314G>C (p.Ser105Thr)
c.572G>C (p.Ser191Thr)
c.395G>C (p.Ser132Thr)
c.527G>C (p.Ser176Thr)
n.767G>C
6g.33435214G>TCA363682105SYNGAP1c.314G>T (p.Ser105Ile)
c.572G>T (p.Ser191Ile)
c.395G>T (p.Ser132Ile)
c.527G>T (p.Ser176Ile)
n.767G>T
6g.33435215T>ACA363682107SYNGAP1c.315T>A (p.Ser105Arg)
c.573T>A (p.Ser191Arg)
c.396T>A (p.Ser132Arg)
c.528T>A (p.Ser176Arg)
n.768T>A
6g.33435215T>CCA450106942SYNGAP1c.315T>C (p.Ser105=)
c.573T>C (p.Ser191=)
c.396T>C (p.Ser132=)
c.528T>C (p.Ser176=)
n.768T>C
 ClinVar dbSNP gnomAD v4
6g.33435215T>GCA363682108SYNGAP1c.315T>G (p.Ser105Arg)
c.573T>G (p.Ser191Arg)
c.396T>G (p.Ser132Arg)
c.528T>G (p.Ser176Arg)
n.768T>G
6g.33435215T=CA1620011320SYNGAP1c.315T= (p.Ser105=)
c.573T= (p.Ser191=)
c.396T= (p.Ser132=)
c.528T= (p.Ser176=)
n.768T=
6g.33435216G>ACA363682109SYNGAP1c.316G>A (p.Ala106Thr)
c.574G>A (p.Ala192Thr)
c.397G>A (p.Ala133Thr)
c.529G>A (p.Ala177Thr)
n.769G>A
6g.33435216G>CCA363682110SYNGAP1c.316G>C (p.Ala106Pro)
c.574G>C (p.Ala192Pro)
c.397G>C (p.Ala133Pro)
c.529G>C (p.Ala177Pro)
n.769G>C
6g.33435216G>TCA363682111SYNGAP1c.316G>T (p.Ala106Ser)
c.574G>T (p.Ala192Ser)
c.397G>T (p.Ala133Ser)
c.529G>T (p.Ala177Ser)
n.769G>T
6g.33435217C>ACA363682112SYNGAP1c.317C>A (p.Ala106Glu)
c.575C>A (p.Ala192Glu)
c.398C>A (p.Ala133Glu)
c.530C>A (p.Ala177Glu)
n.770C>A
6g.33435217C>GCA363682113SYNGAP1c.317C>G (p.Ala106Gly)
c.575C>G (p.Ala192Gly)
c.398C>G (p.Ala133Gly)
c.530C>G (p.Ala177Gly)
n.770C>G
6g.33435217C>TCA363682114SYNGAP1c.317C>T (p.Ala106Val)
c.575C>T (p.Ala192Val)
c.398C>T (p.Ala133Val)
c.530C>T (p.Ala177Val)
n.770C>T
6g.33435218A=CA1620011321SYNGAP1c.318A= (p.Ala106=)
c.576A= (p.Ala192=)
c.399A= (p.Ala133=)
c.531A= (p.Ala177=)
n.771A=
6g.33435218A>CCA450106945SYNGAP1c.318A>C (p.Ala106=)
c.576A>C (p.Ala192=)
c.399A>C (p.Ala133=)
c.531A>C (p.Ala177=)
n.771A>C
6g.33435218A>GCA450106946SYNGAP1c.318A>G (p.Ala106=)
c.576A>G (p.Ala192=)
c.399A>G (p.Ala133=)
c.531A>G (p.Ala177=)
n.771A>G
 dbSNP
6g.33435218A>TCA450106948SYNGAP1c.318A>T (p.Ala106=)
c.576A>T (p.Ala192=)
c.399A>T (p.Ala133=)
c.531A>T (p.Ala177=)
n.771A>T
6g.33435219G>ACA363682115SYNGAP1c.319G>A (p.Ala107Thr)
c.577G>A (p.Ala193Thr)
c.400G>A (p.Ala134Thr)
c.532G>A (p.Ala178Thr)
n.772G>A
6g.33435219G>CCA363682116SYNGAP1c.319G>C (p.Ala107Pro)
c.577G>C (p.Ala193Pro)
c.400G>C (p.Ala134Pro)
c.532G>C (p.Ala178Pro)
n.772G>C
6g.33435219G>TCA363682117SYNGAP1c.319G>T (p.Ala107Ser)
c.577G>T (p.Ala193Ser)
c.400G>T (p.Ala134Ser)
c.532G>T (p.Ala178Ser)
n.772G>T
6g.33435220C>ACA363682119SYNGAP1c.320C>A (p.Ala107Asp)
c.578C>A (p.Ala193Asp)
c.401C>A (p.Ala134Asp)
c.533C>A (p.Ala178Asp)
n.773C>A
6g.33435220C>GCA363682120SYNGAP1c.320C>G (p.Ala107Gly)
c.578C>G (p.Ala193Gly)
c.401C>G (p.Ala134Gly)
c.533C>G (p.Ala178Gly)
n.773C>G
6g.33435220C>TCA363682118SYNGAP1c.320C>T (p.Ala107Val)
c.578C>T (p.Ala193Val)
c.401C>T (p.Ala134Val)
c.533C>T (p.Ala178Val)
n.773C>T
6g.33435221T>ACA450106952SYNGAP1c.321T>A (p.Ala107=)
c.579T>A (p.Ala193=)
c.402T>A (p.Ala134=)
c.534T>A (p.Ala178=)
n.774T>A
6g.33435221T>CCA450106954SYNGAP1c.321T>C (p.Ala107=)
c.579T>C (p.Ala193=)
c.402T>C (p.Ala134=)
c.534T>C (p.Ala178=)
n.774T>C
6g.33435221T>GCA450106956SYNGAP1c.321T>G (p.Ala107=)
c.579T>G (p.Ala193=)
c.402T>G (p.Ala134=)
c.534T>G (p.Ala178=)
n.774T>G
6g.33435222G>ACA363682121SYNGAP1c.322G>A (p.Glu108Lys)
c.580G>A (p.Glu194Lys)
c.403G>A (p.Glu135Lys)
c.535G>A (p.Glu179Lys)
n.775G>A
6g.33435222G>CCA363682122SYNGAP1c.322G>C (p.Glu108Gln)
c.580G>C (p.Glu194Gln)
c.403G>C (p.Glu135Gln)
c.535G>C (p.Glu179Gln)
n.775G>C
6g.33435222G=CA1620011322SYNGAP1c.322G= (p.Glu108=)
c.580G= (p.Glu194=)
c.403G= (p.Glu135=)
c.535G= (p.Glu179=)
n.775G=
6g.33435222G>TCA363682123SYNGAP1c.322G>T (p.Glu108Ter)
c.580G>T (p.Glu194Ter)
c.403G>T (p.Glu135Ter)
c.535G>T (p.Glu179Ter)
n.775G>T
 dbSNP
6g.33435223A>CCA363682124SYNGAP1c.323A>C (p.Glu108Ala)
c.581A>C (p.Glu194Ala)
c.404A>C (p.Glu135Ala)
c.536A>C (p.Glu179Ala)
n.776A>C
6g.33435223A>GCA363682125SYNGAP1c.323A>G (p.Glu108Gly)
c.581A>G (p.Glu194Gly)
c.404A>G (p.Glu135Gly)
c.536A>G (p.Glu179Gly)
n.776A>G
6g.33435223A>TCA363682126SYNGAP1c.323A>T (p.Glu108Val)
c.581A>T (p.Glu194Val)
c.404A>T (p.Glu135Val)
c.536A>T (p.Glu179Val)
n.776A>T
6g.33435224G>ACA3758529SYNGAP1c.324G>A (p.Glu108=)
c.582G>A (p.Glu194=)
c.405G>A (p.Glu135=)
c.537G>A (p.Glu179=)
n.777G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33435224G>CCA363682127SYNGAP1c.324G>C (p.Glu108Asp)
c.582G>C (p.Glu194Asp)
c.405G>C (p.Glu135Asp)
c.537G>C (p.Glu179Asp)
n.777G>C
6g.33435224G=CA1620011323SYNGAP1c.324G= (p.Glu108=)
c.582G= (p.Glu194=)
c.405G= (p.Glu135=)
c.537G= (p.Glu179=)
n.777G=
6g.33435224G>TCA363682128SYNGAP1c.324G>T (p.Glu108Asp)
c.582G>T (p.Glu194Asp)
c.405G>T (p.Glu135Asp)
c.537G>T (p.Glu179Asp)
n.777G>T
6g.33435225G>ACA363682129SYNGAP1c.325G>A (p.Ala109Thr)
c.583G>A (p.Ala195Thr)
c.406G>A (p.Ala136Thr)
c.538G>A (p.Ala180Thr)
n.778G>A
6g.33435225G>CCA16044320SYNGAP1c.325G>C (p.Ala109Pro)
c.583G>C (p.Ala195Pro)
c.406G>C (p.Ala136Pro)
c.538G>C (p.Ala180Pro)
n.778G>C
 ClinVar dbSNP
6g.33435225G=CA1620011324SYNGAP1c.325G= (p.Ala109=)
c.583G= (p.Ala195=)
c.406G= (p.Ala136=)
c.538G= (p.Ala180=)
n.778G=
6g.33435225G>TCA363682131SYNGAP1c.325G>T (p.Ala109Ser)
c.583G>T (p.Ala195Ser)
c.406G>T (p.Ala136Ser)
c.538G>T (p.Ala180Ser)
n.778G>T
 gnomAD v4
6g.33435226C>ACA363682133SYNGAP1c.326C>A (p.Ala109Glu)
c.584C>A (p.Ala195Glu)
c.407C>A (p.Ala136Glu)
c.539C>A (p.Ala180Glu)
n.779C>A
6g.33435226C>GCA363682134SYNGAP1c.326C>G (p.Ala109Gly)
c.584C>G (p.Ala195Gly)
c.407C>G (p.Ala136Gly)
c.539C>G (p.Ala180Gly)
n.779C>G
6g.33435226C>TCA363682132SYNGAP1c.326C>T (p.Ala109Val)
c.584C>T (p.Ala195Val)
c.407C>T (p.Ala136Val)
c.539C>T (p.Ala180Val)
n.779C>T
6g.33435227A>CCA450106959SYNGAP1c.327A>C (p.Ala109=)
c.585A>C (p.Ala195=)
c.408A>C (p.Ala136=)
c.540A>C (p.Ala180=)
n.780A>C
6g.33435227A>GCA450106961SYNGAP1c.327A>G (p.Ala109=)
c.585A>G (p.Ala195=)
c.408A>G (p.Ala136=)
c.540A>G (p.Ala180=)
n.780A>G
 ClinVar dbSNP
6g.33435227A>TCA450106962SYNGAP1c.327A>T (p.Ala109=)
c.585A>T (p.Ala195=)
c.408A>T (p.Ala136=)
c.540A>T (p.Ala180=)
n.780A>T
6g.33435228T>ACA363682135SYNGAP1c.328T>A (p.Leu110Met)
c.586T>A (p.Leu196Met)
c.409T>A (p.Leu137Met)
c.541T>A (p.Leu181Met)
n.781T>A
6g.33435228T>CCA209814SYNGAP1c.328T>C (p.Leu110=)
c.586T>C (p.Leu196=)
c.409T>C (p.Leu137=)
c.541T>C (p.Leu181=)
n.781T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33435228T>GCA363682136SYNGAP1c.328T>G (p.Leu110Val)
c.586T>G (p.Leu196Val)
c.409T>G (p.Leu137Val)
c.541T>G (p.Leu181Val)
n.781T>G
6g.33435228T=CA1620011325SYNGAP1c.328T= (p.Leu110=)
c.586T= (p.Leu196=)
c.409T= (p.Leu137=)
c.541T= (p.Leu181=)
n.781T=
6g.33435229T>ACA363682137SYNGAP1c.329T>A (p.Leu110Ter)
c.587T>A (p.Leu196Ter)
c.410T>A (p.Leu137Ter)
c.542T>A (p.Leu181Ter)
n.782T>A
 dbSNP
6g.33435229T>CCA363682138SYNGAP1c.329T>C (p.Leu110Ser)
c.587T>C (p.Leu196Ser)
c.410T>C (p.Leu137Ser)
c.542T>C (p.Leu181Ser)
n.782T>C
6g.33435229T>GCA363682139SYNGAP1c.329T>G (p.Leu110Trp)
c.587T>G (p.Leu196Trp)
c.410T>G (p.Leu137Trp)
c.542T>G (p.Leu181Trp)
n.782T>G
6g.33435229T=CA1620011326SYNGAP1c.329T= (p.Leu110=)
c.587T= (p.Leu196=)
c.410T= (p.Leu137=)
c.542T= (p.Leu181=)
n.782T=
6g.33435230G>ACA3758530SYNGAP1c.330G>A (p.Leu110=)
c.588G>A (p.Leu196=)
c.411G>A (p.Leu137=)
c.543G>A (p.Leu181=)
n.783G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33435230G>CCA363682140SYNGAP1c.330G>C (p.Leu110Phe)
c.588G>C (p.Leu196Phe)
c.411G>C (p.Leu137Phe)
c.543G>C (p.Leu181Phe)
n.783G>C
6g.33435230G=CA1620011327SYNGAP1c.330G= (p.Leu110=)
c.588G= (p.Leu196=)
c.411G= (p.Leu137=)
c.543G= (p.Leu181=)
n.783G=
6g.33435230G>TCA363682141SYNGAP1c.330G>T (p.Leu110Phe)
c.588G>T (p.Leu196Phe)
c.411G>T (p.Leu137Phe)
c.543G>T (p.Leu181Phe)
n.783G>T
6g.33435231G>ACA363682142SYNGAP1c.331G>A (p.Glu111Lys)
c.589G>A (p.Glu197Lys)
c.412G>A (p.Glu138Lys)
c.544G>A (p.Glu182Lys)
n.784G>A
6g.33435231G>CCA363682143SYNGAP1c.331G>C (p.Glu111Gln)
c.589G>C (p.Glu197Gln)
c.412G>C (p.Glu138Gln)
c.544G>C (p.Glu182Gln)
n.784G>C
6g.33435231G=CA1620011328SYNGAP1c.331G= (p.Glu111=)
c.589G= (p.Glu197=)
c.412G= (p.Glu138=)
c.544G= (p.Glu182=)
n.784G=
6g.33435231G>TCA363682144SYNGAP1c.331G>T (p.Glu111Ter)
c.589G>T (p.Glu197Ter)
c.412G>T (p.Glu138Ter)
c.544G>T (p.Glu182Ter)
n.784G>T
 dbSNP
6g.33435232A>CCA363682145SYNGAP1c.332A>C (p.Glu111Ala)
c.590A>C (p.Glu197Ala)
c.413A>C (p.Glu138Ala)
c.545A>C (p.Glu182Ala)
n.785A>C
6g.33435232A>GCA363682146SYNGAP1c.332A>G (p.Glu111Gly)
c.590A>G (p.Glu197Gly)
c.413A>G (p.Glu138Gly)
c.545A>G (p.Glu182Gly)
n.785A>G
6g.33435232A>TCA363682147SYNGAP1c.332A>T (p.Glu111Val)
c.590A>T (p.Glu197Val)
c.413A>T (p.Glu138Val)
c.545A>T (p.Glu182Val)
n.785A>T
6g.33435233G>ACA450106966SYNGAP1c.333G>A (p.Glu111=)
c.591G>A (p.Glu197=)
c.414G>A (p.Glu138=)
c.546G>A (p.Glu182=)
n.786G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33435233G>CCA363682149SYNGAP1c.333G>C (p.Glu111Asp)
c.591G>C (p.Glu197Asp)
c.414G>C (p.Glu138Asp)
c.546G>C (p.Glu182Asp)
n.786G>C
6g.33435233G=CA1620011329SYNGAP1c.333G= (p.Glu111=)
c.591G= (p.Glu197=)
c.414G= (p.Glu138=)
c.546G= (p.Glu182=)
n.786G=
6g.33435233G>TCA363682148SYNGAP1c.333G>T (p.Glu111Asp)
c.591G>T (p.Glu197Asp)
c.414G>T (p.Glu138Asp)
c.546G>T (p.Glu182Asp)
n.786G>T
6g.33435234C>ACA363682150SYNGAP1c.334C>A (p.Leu112Ile)
c.592C>A (p.Leu198Ile)
c.415C>A (p.Leu139Ile)
c.547C>A (p.Leu183Ile)
n.787C>A
6g.33435234C>GCA363682152SYNGAP1c.334C>G (p.Leu112Val)
c.592C>G (p.Leu198Val)
c.415C>G (p.Leu139Val)
c.547C>G (p.Leu183Val)
n.787C>G
6g.33435234C>TCA363682151SYNGAP1c.334C>T (p.Leu112Phe)
c.592C>T (p.Leu198Phe)
c.415C>T (p.Leu139Phe)
c.547C>T (p.Leu183Phe)
n.787C>T
6g.33435235T>ACA363682153SYNGAP1c.335T>A (p.Leu112His)
c.593T>A (p.Leu198His)
c.416T>A (p.Leu139His)
c.548T>A (p.Leu183His)
n.788T>A
6g.33435235T>CCA363682155SYNGAP1c.335T>C (p.Leu112Pro)
c.593T>C (p.Leu198Pro)
c.416T>C (p.Leu139Pro)
c.548T>C (p.Leu183Pro)
n.788T>C
6g.33435235T>GCA363682154SYNGAP1c.335T>G (p.Leu112Arg)
c.593T>G (p.Leu198Arg)
c.416T>G (p.Leu139Arg)
c.548T>G (p.Leu183Arg)
n.788T>G
6g.33435236C>ACA450106968SYNGAP1c.336C>A (p.Leu112=)
c.594C>A (p.Leu198=)
c.417C>A (p.Leu139=)
c.549C>A (p.Leu183=)
n.789C>A
6g.33435236C=CA1620011330SYNGAP1c.336C= (p.Leu112=)
c.594C= (p.Leu198=)
c.417C= (p.Leu139=)
c.549C= (p.Leu183=)
n.789C=
6g.33435236C>GCA450106970SYNGAP1c.336C>G (p.Leu112=)
c.594C>G (p.Leu198=)
c.417C>G (p.Leu139=)
c.549C>G (p.Leu183=)
n.789C>G
6g.33435236C>TCA450106969SYNGAP1c.336C>T (p.Leu112=)
c.594C>T (p.Leu198=)
c.417C>T (p.Leu139=)
c.549C>T (p.Leu183=)
n.789C>T
 dbSNP gnomAD v4
6g.33435237A>CCA363682156SYNGAP1c.337A>C (p.Asn113His)
c.595A>C (p.Asn199His)
c.418A>C (p.Asn140His)
c.550A>C (p.Asn184His)
n.790A>C
6g.33435237A>GCA363682158SYNGAP1c.337A>G (p.Asn113Asp)
c.595A>G (p.Asn199Asp)
c.418A>G (p.Asn140Asp)
c.550A>G (p.Asn184Asp)
n.790A>G
6g.33435237A>TCA363682157SYNGAP1c.337A>T (p.Asn113Tyr)
c.595A>T (p.Asn199Tyr)
c.418A>T (p.Asn140Tyr)
c.550A>T (p.Asn184Tyr)
n.790A>T
6g.33435238A>CCA363682159SYNGAP1c.338A>C (p.Asn113Thr)
c.596A>C (p.Asn199Thr)
c.419A>C (p.Asn140Thr)
c.551A>C (p.Asn184Thr)
n.791A>C
6g.33435238A>GCA363682160SYNGAP1c.338A>G (p.Asn113Ser)
c.596A>G (p.Asn199Ser)
c.419A>G (p.Asn140Ser)
c.551A>G (p.Asn184Ser)
n.791A>G
6g.33435238A>TCA363682161SYNGAP1c.338A>T (p.Asn113Ile)
c.596A>T (p.Asn199Ile)
c.419A>T (p.Asn140Ile)
c.551A>T (p.Asn184Ile)
n.791A>T
6g.33435239C>ACA363682162SYNGAP1c.339C>A (p.Asn113Lys)
c.597C>A (p.Asn199Lys)
c.420C>A (p.Asn140Lys)
c.552C>A (p.Asn184Lys)
n.792C>A
 ClinVar
6g.33435239C>GCA363682163SYNGAP1c.339C>G (p.Asn113Lys)
c.597C>G (p.Asn199Lys)
c.420C>G (p.Asn140Lys)
c.552C>G (p.Asn184Lys)
n.792C>G
6g.33435239C>TCA450106971SYNGAP1c.339C>T (p.Asn113=)
c.597C>T (p.Asn199=)
c.420C>T (p.Asn140=)
c.552C>T (p.Asn184=)
n.792C>T
6g.33435240T>ACA363682164SYNGAP1c.340T>A (p.Leu114Met)
c.598T>A (p.Leu200Met)
c.421T>A (p.Leu141Met)
c.553T>A (p.Leu185Met)
n.793T>A
6g.33435240T>CCA450106972SYNGAP1c.340T>C (p.Leu114=)
c.598T>C (p.Leu200=)
c.421T>C (p.Leu141=)
c.553T>C (p.Leu185=)
n.793T>C
 dbSNP gnomAD v3 gnomAD v4
6g.33435240T>GCA363682165SYNGAP1c.340T>G (p.Leu114Val)
c.598T>G (p.Leu200Val)
c.421T>G (p.Leu141Val)
c.553T>G (p.Leu185Val)
n.793T>G
6g.33435240T=CA1620011331SYNGAP1c.340T= (p.Leu114=)
c.598T= (p.Leu200=)
c.421T= (p.Leu141=)
c.553T= (p.Leu185=)
n.793T=
6g.33435241T>ACA363682166SYNGAP1c.341T>A (p.Leu114Ter)
c.599T>A (p.Leu200Ter)
c.422T>A (p.Leu141Ter)
c.554T>A (p.Leu185Ter)
n.794T>A
 dbSNP
6g.33435241T>CCA363682167SYNGAP1c.341T>C (p.Leu114Ser)
c.599T>C (p.Leu200Ser)
c.422T>C (p.Leu141Ser)
c.554T>C (p.Leu185Ser)
n.794T>C
6g.33435241T>GCA363682168SYNGAP1c.341T>G (p.Leu114Trp)
c.599T>G (p.Leu200Trp)
c.422T>G (p.Leu141Trp)
c.554T>G (p.Leu185Trp)
n.794T>G
6g.33435241T=CA1620011332SYNGAP1c.341T= (p.Leu114=)
c.599T= (p.Leu200=)
c.422T= (p.Leu141=)
c.554T= (p.Leu185=)
n.794T=
6g.33435242G>ACA450106973SYNGAP1c.342G>A (p.Leu114=)
c.600G>A (p.Leu200=)
c.423G>A (p.Leu141=)
c.555G>A (p.Leu185=)
n.795G>A
6g.33435242G>CCA363682169SYNGAP1c.342G>C (p.Leu114Phe)
c.600G>C (p.Leu200Phe)
c.423G>C (p.Leu141Phe)
c.555G>C (p.Leu185Phe)
n.795G>C
 ClinVar dbSNP gnomAD v4
6g.33435242G=CA1620011333SYNGAP1c.342G= (p.Leu114=)
c.600G= (p.Leu200=)
c.423G= (p.Leu141=)
c.555G= (p.Leu185=)
n.795G=
6g.33435242G>TCA363682170SYNGAP1c.342G>T (p.Leu114Phe)
c.600G>T (p.Leu200Phe)
c.423G>T (p.Leu141Phe)
c.555G>T (p.Leu185Phe)
n.795G>T
6g.33435243G>ACA363682173SYNGAP1c.343G>A (p.Asp115Asn)
c.601G>A (p.Asp201Asn)
c.424G>A (p.Asp142Asn)
c.556G>A (p.Asp186Asn)
n.796G>A
6g.33435243G>CCA363682171SYNGAP1c.343G>C (p.Asp115His)
c.601G>C (p.Asp201His)
c.424G>C (p.Asp142His)
c.556G>C (p.Asp186His)
n.796G>C
6g.33435243G>TCA363682172SYNGAP1c.343G>T (p.Asp115Tyr)
c.601G>T (p.Asp201Tyr)
c.424G>T (p.Asp142Tyr)
c.556G>T (p.Asp186Tyr)
n.796G>T
6g.33435244A>CCA363682174SYNGAP1c.344A>C (p.Asp115Ala)
c.602A>C (p.Asp201Ala)
c.425A>C (p.Asp142Ala)
c.557A>C (p.Asp186Ala)
n.797A>C
6g.33435244A>GCA363682175SYNGAP1c.344A>G (p.Asp115Gly)
c.602A>G (p.Asp201Gly)
c.425A>G (p.Asp142Gly)
c.557A>G (p.Asp186Gly)
n.797A>G
6g.33435244A>TCA363682176SYNGAP1c.344A>T (p.Asp115Val)
c.602A>T (p.Asp201Val)
c.425A>T (p.Asp142Val)
c.557A>T (p.Asp186Val)
n.797A>T
6g.33435245T>ACA363682177SYNGAP1c.345T>A (p.Asp115Glu)
c.603T>A (p.Asp201Glu)
c.426T>A (p.Asp142Glu)
c.558T>A (p.Asp186Glu)
n.798T>A
 ClinVar
6g.33435245T>CCA450106976SYNGAP1c.345T>C (p.Asp115=)
c.603T>C (p.Asp201=)
c.426T>C (p.Asp142=)
c.558T>C (p.Asp186=)
n.798T>C
6g.33435245T>GCA3758531SYNGAP1c.345T>G (p.Asp115Glu)
c.603T>G (p.Asp201Glu)
c.426T>G (p.Asp142Glu)
c.558T>G (p.Asp186Glu)
n.798T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33435245T=CA1620011334SYNGAP1c.345T= (p.Asp115=)
c.603T= (p.Asp201=)
c.426T= (p.Asp142=)
c.558T= (p.Asp186=)
n.798T=
6g.33435246delCA2580074400SYNGAP1c.346del (p.Glu116LysfsTer21)
c.604del (p.Glu202LysfsTer21)
c.427del (p.Glu143LysfsTer21)
c.559del (p.Glu187LysfsTer21)
n.799del
 ClinVar
6g.33435246G>ACA363682178SYNGAP1c.346G>A (p.Glu116Lys)
c.604G>A (p.Glu202Lys)
c.427G>A (p.Glu143Lys)
c.559G>A (p.Glu187Lys)
n.799G>A
6g.33435246G>CCA363682179SYNGAP1c.346G>C (p.Glu116Gln)
c.604G>C (p.Glu202Gln)
c.427G>C (p.Glu143Gln)
c.559G>C (p.Glu187Gln)
n.799G>C
6g.33435246G=CA1620011335SYNGAP1c.346G= (p.Glu116=)
c.604G= (p.Glu202=)
c.427G= (p.Glu143=)
c.559G= (p.Glu187=)
n.799G=
6g.33435246G>TCA363682180SYNGAP1c.346G>T (p.Glu116Ter)
c.604G>T (p.Glu202Ter)
c.427G>T (p.Glu143Ter)
c.559G>T (p.Glu187Ter)
n.799G>T
 dbSNP
6g.33435247A>CCA363682181SYNGAP1c.347A>C (p.Glu116Ala)
c.605A>C (p.Glu202Ala)
c.428A>C (p.Glu143Ala)
c.560A>C (p.Glu187Ala)
n.800A>C
6g.33435247A>GCA363682182SYNGAP1c.347A>G (p.Glu116Gly)
c.605A>G (p.Glu202Gly)
c.428A>G (p.Glu143Gly)
c.560A>G (p.Glu187Gly)
n.800A>G
6g.33435247A>TCA363682183SYNGAP1c.347A>T (p.Glu116Val)
c.605A>T (p.Glu202Val)
c.428A>T (p.Glu143Val)
c.560A>T (p.Glu187Val)
n.800A>T
6g.33435248A>CCA363682184SYNGAP1c.348A>C (p.Glu116Asp)
c.606A>C (p.Glu202Asp)
c.429A>C (p.Glu143Asp)
c.561A>C (p.Glu187Asp)
n.801A>C
6g.33435248A>GCA450106978SYNGAP1c.348A>G (p.Glu116=)
c.606A>G (p.Glu202=)
c.429A>G (p.Glu143=)
c.561A>G (p.Glu187=)
n.801A>G
6g.33435248A>TCA363682185SYNGAP1c.348A>T (p.Glu116Asp)
c.606A>T (p.Glu202Asp)
c.429A>T (p.Glu143Asp)
c.561A>T (p.Glu187Asp)
n.801A>T
6g.33435249G>ACA363682186SYNGAP1c.349G>A (p.Asp117Asn)
c.607G>A (p.Asp203Asn)
c.430G>A (p.Asp144Asn)
c.562G>A (p.Asp188Asn)
n.802G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33435249G>CCA363682187SYNGAP1c.349G>C (p.Asp117His)
c.607G>C (p.Asp203His)
c.430G>C (p.Asp144His)
c.562G>C (p.Asp188His)
n.802G>C
6g.33435249G=CA1620011336SYNGAP1c.349G= (p.Asp117=)
c.607G= (p.Asp203=)
c.430G= (p.Asp144=)
c.562G= (p.Asp188=)
n.802G=
6g.33435249G>TCA363682188SYNGAP1c.349G>T (p.Asp117Tyr)
c.607G>T (p.Asp203Tyr)
c.430G>T (p.Asp144Tyr)
c.562G>T (p.Asp188Tyr)
n.802G>T
6g.33435250A>CCA363682189SYNGAP1c.350A>C (p.Asp117Ala)
c.608A>C (p.Asp203Ala)
c.431A>C (p.Asp144Ala)
c.563A>C (p.Asp188Ala)
n.803A>C
6g.33435250A>GCA363682190SYNGAP1c.350A>G (p.Asp117Gly)
c.608A>G (p.Asp203Gly)
c.431A>G (p.Asp144Gly)
c.563A>G (p.Asp188Gly)
n.803A>G
6g.33435250A>TCA363682191SYNGAP1c.350A>T (p.Asp117Val)
c.608A>T (p.Asp203Val)
c.431A>T (p.Asp144Val)
c.563A>T (p.Asp188Val)
n.803A>T
6g.33435251T>ACA363682192SYNGAP1c.351T>A (p.Asp117Glu)
c.609T>A (p.Asp203Glu)
c.432T>A (p.Asp144Glu)
c.564T>A (p.Asp188Glu)
n.804T>A
6g.33435251T>CCA450106981SYNGAP1c.351T>C (p.Asp117=)
c.609T>C (p.Asp203=)
c.432T>C (p.Asp144=)
c.564T>C (p.Asp188=)
n.804T>C
6g.33435251T>GCA363682193SYNGAP1c.351T>G (p.Asp117Glu)
c.609T>G (p.Asp203Glu)
c.432T>G (p.Asp144Glu)
c.564T>G (p.Asp188Glu)
n.804T>G
6g.33435252T>ACA363682194SYNGAP1c.352T>A (p.Ser118Thr)
c.610T>A (p.Ser204Thr)
c.433T>A (p.Ser145Thr)
c.565T>A (p.Ser189Thr)
n.805T>A
6g.33435252T>CCA363682195SYNGAP1c.352T>C (p.Ser118Pro)
c.610T>C (p.Ser204Pro)
c.433T>C (p.Ser145Pro)
c.565T>C (p.Ser189Pro)
n.805T>C
6g.33435252T>GCA363682196SYNGAP1c.352T>G (p.Ser118Ala)
c.610T>G (p.Ser204Ala)
c.433T>G (p.Ser145Ala)
c.565T>G (p.Ser189Ala)
n.805T>G
6g.33435253C>ACA363682199SYNGAP1c.353C>A (p.Ser118Tyr)
c.611C>A (p.Ser204Tyr)
c.434C>A (p.Ser145Tyr)
c.566C>A (p.Ser189Tyr)
n.806C>A
6g.33435253C>GCA363682198SYNGAP1c.353C>G (p.Ser118Cys)
c.611C>G (p.Ser204Cys)
c.434C>G (p.Ser145Cys)
c.566C>G (p.Ser189Cys)
n.806C>G
 ClinVar dbSNP
6g.33435253C>TCA363682197SYNGAP1c.353C>T (p.Ser118Phe)
c.611C>T (p.Ser204Phe)
c.434C>T (p.Ser145Phe)
c.566C>T (p.Ser189Phe)
n.806C>T
 COSMIC COSMIC
6g.33435254C>ACA450106985SYNGAP1c.354C>A (p.Ser118=)
c.612C>A (p.Ser204=)
c.435C>A (p.Ser145=)
c.567C>A (p.Ser189=)
n.807C>A
6g.33435254C>GCA450106986SYNGAP1c.354C>G (p.Ser118=)
c.612C>G (p.Ser204=)
c.435C>G (p.Ser145=)
c.567C>G (p.Ser189=)
n.807C>G
6g.33435254C>TCA450106988SYNGAP1c.354C>T (p.Ser118=)
c.612C>T (p.Ser204=)
c.435C>T (p.Ser145=)
c.567C>T (p.Ser189=)
n.807C>T

Number of alleles fetched