Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33435133T>C | CA2678272253 | SYNGAP1 | c.252-19T>C (n.252-19T>C) c.510-19T>C (n.510-19T>C) c.333-19T>C (n.333-19T>C) c.465-19T>C (n.465-19T>C) n.705-19T>C | gnomAD v4 |
6 | g.33435134G>T | CA2678272255 | SYNGAP1 | c.252-18G>T (n.252-18G>T) c.510-18G>T (n.510-18G>T) c.333-18G>T (n.333-18G>T) c.465-18G>T (n.465-18G>T) n.705-18G>T | gnomAD v4 |
6 | g.33435134_33435140dup | CA2678272254 | SYNGAP1 | c.252-18_252-12dup (n.252-18_252-12dup) c.510-18_510-12dup (n.510-18_510-12dup) c.333-18_333-12dup (n.333-18_333-12dup) c.465-18_465-12dup (n.465-18_465-12dup) n.705-18_705-12dup | gnomAD v4 |
6 | g.33435135A>G | CA2838983687 | SYNGAP1 | c.252-17A>G (n.252-17A>G) c.510-17A>G (n.510-17A>G) c.333-17A>G (n.333-17A>G) c.465-17A>G (n.465-17A>G) n.705-17A>G | |
6 | g.33435137C>A | CA2678272256 | SYNGAP1 | c.252-15C>A (n.252-15C>A) c.510-15C>A (n.510-15C>A) c.333-15C>A (n.333-15C>A) c.465-15C>A (n.465-15C>A) n.705-15C>A | gnomAD v4 |
6 | g.33435138C>A | CA2842964029 | SYNGAP1 | c.252-14C>A (n.252-14C>A) c.510-14C>A (n.510-14C>A) c.333-14C>A (n.333-14C>A) c.465-14C>A (n.465-14C>A) n.705-14C>A | |
6 | g.33435138C>T | CA2842964028 | SYNGAP1 | c.252-14C>T (n.252-14C>T) c.510-14C>T (n.510-14C>T) c.333-14C>T (n.333-14C>T) c.465-14C>T (n.465-14C>T) n.705-14C>T | |
6 | g.33435139T>A | CA2578585379 | SYNGAP1 | c.252-13T>A (n.252-13T>A) c.510-13T>A (n.510-13T>A) c.333-13T>A (n.333-13T>A) c.465-13T>A (n.465-13T>A) n.705-13T>A | gnomAD v3 gnomAD v4 |
6 | g.33435139T>C | CA1087668209 | SYNGAP1 | c.252-13T>C (n.252-13T>C) c.510-13T>C (n.510-13T>C) c.333-13T>C (n.333-13T>C) c.465-13T>C (n.465-13T>C) n.705-13T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.33435139_33435143delinsTCCTG | CA1620011295 | SYNGAP1 | c.252-13_252-9delinsTCCTG (n.252-13_252-9delinsTCCTG) c.510-13_510-9delinsTCCTG (n.510-13_510-9delinsTCCTG) c.333-13_333-9delinsTCCTG (n.333-13_333-9delinsTCCTG) c.465-13_465-9delinsTCCTG (n.465-13_465-9delinsTCCTG) n.705-13_705-9delinsTCCTG | |
6 | g.33435146_33435149del | CA1620011296 | SYNGAP1 | c.252-6_252-3del (n.252-6_252-3del) c.510-6_510-3del (n.510-6_510-3del) c.333-6_333-3del (n.333-6_333-3del) c.465-6_465-3del (n.465-6_465-3del) n.705-6_705-3del | dbSNP |
6 | g.33435141C>T | CA2678272257 | SYNGAP1 | c.252-11C>T (n.252-11C>T) c.510-11C>T (n.510-11C>T) c.333-11C>T (n.333-11C>T) c.465-11C>T (n.465-11C>T) n.705-11C>T | gnomAD v4 |
6 | g.33435142T>C | CA2678272258 | SYNGAP1 | c.252-10T>C (n.252-10T>C) c.510-10T>C (n.510-10T>C) c.333-10T>C (n.333-10T>C) c.465-10T>C (n.465-10T>C) n.705-10T>C | gnomAD v4 |
6 | g.33435143G>A | CA2678272259 | SYNGAP1 | c.252-9G>A (n.252-9G>A) c.510-9G>A (n.510-9G>A) c.333-9G>A (n.333-9G>A) c.465-9G>A (n.465-9G>A) n.705-9G>A | gnomAD v4 |
6 | g.33435143G>T | CA2842964030 | SYNGAP1 | c.252-9G>T (n.252-9G>T) c.510-9G>T (n.510-9G>T) c.333-9G>T (n.333-9G>T) c.465-9G>T (n.465-9G>T) n.705-9G>T | |
6 | g.33435144C>T | CA2842964031 | SYNGAP1 | c.252-8C>T (n.252-8C>T) c.510-8C>T (n.510-8C>T) c.333-8C>T (n.333-8C>T) c.465-8C>T (n.465-8C>T) n.705-8C>T | |
6 | g.33435147G>A | CA915944210 | SYNGAP1 | c.252-5G>A (n.252-5G>A) c.510-5G>A (n.510-5G>A) c.333-5G>A (n.333-5G>A) c.465-5G>A (n.465-5G>A) n.705-5G>A | ClinVar dbSNP gnomAD v4 |
6 | g.33435147G= | CA1620011297 | SYNGAP1 | c.252-5G= (n.252-5G=) c.510-5G= (n.510-5G=) c.333-5G= (n.333-5G=) c.465-5G= (n.465-5G=) n.705-5G= | |
6 | g.33435147G>T | CA2678272260 | SYNGAP1 | c.252-5G>T (n.252-5G>T) c.510-5G>T (n.510-5G>T) c.333-5G>T (n.333-5G>T) c.465-5G>T (n.465-5G>T) n.705-5G>T | gnomAD v4 |
6 | g.33435149C>T | CA2678272261 | SYNGAP1 | c.252-3C>T (n.252-3C>T) c.510-3C>T (n.510-3C>T) c.333-3C>T (n.333-3C>T) c.465-3C>T (n.465-3C>T) n.705-3C>T | gnomAD v4 |
6 | g.33435150A= | CA1620011298 | SYNGAP1 | c.252-2A= (n.252-2A=) c.510-2A= (n.510-2A=) c.333-2A= (n.333-2A=) c.465-2A= (n.465-2A=) n.705-2A= | |
6 | g.33435150A>C | CA363681957 | SYNGAP1 | c.252-2A>C (n.252-2A>C) c.510-2A>C (n.510-2A>C) c.333-2A>C (n.333-2A>C) c.465-2A>C (n.465-2A>C) n.705-2A>C | |
6 | g.33435150A>G | CA363681958 | SYNGAP1 | c.252-2A>G (n.252-2A>G) c.510-2A>G (n.510-2A>G) c.333-2A>G (n.333-2A>G) c.465-2A>G (n.465-2A>G) n.705-2A>G | ClinVar dbSNP |
6 | g.33435150A>T | CA363681959 | SYNGAP1 | c.252-2A>T (n.252-2A>T) c.510-2A>T (n.510-2A>T) c.333-2A>T (n.333-2A>T) c.465-2A>T (n.465-2A>T) n.705-2A>T | |
6 | g.33435151G>A | CA363681960 | SYNGAP1 | c.252-1G>A (n.252-1G>A) c.510-1G>A (n.510-1G>A) c.333-1G>A (n.333-1G>A) c.465-1G>A (n.465-1G>A) n.705-1G>A | ClinVar dbSNP |
6 | g.33435151G>C | CA363681961 | SYNGAP1 | c.252-1G>C (n.252-1G>C) c.510-1G>C (n.510-1G>C) c.333-1G>C (n.333-1G>C) c.465-1G>C (n.465-1G>C) n.705-1G>C | |
6 | g.33435151G>T | CA363681962 | SYNGAP1 | c.252-1G>T (n.252-1G>T) c.510-1G>T (n.510-1G>T) c.333-1G>T (n.333-1G>T) c.465-1G>T (n.465-1G>T) n.705-1G>T | |
6 | g.33435152G>A | CA450106879 | SYNGAP1 | c.252G>A (p.Arg84=) c.510G>A (p.Arg170=) c.333G>A (p.Arg111=) c.465G>A (p.Arg155=) n.705G>A | |
6 | g.33435152G>C | CA450106880 | SYNGAP1 | c.252G>C (p.Arg84=) c.510G>C (p.Arg170=) c.333G>C (p.Arg111=) c.465G>C (p.Arg155=) n.705G>C | |
6 | g.33435152G= | CA1620011299 | SYNGAP1 | c.252G= (p.Arg84=) c.510G= (p.Arg170=) c.333G= (p.Arg111=) c.465G= (p.Arg155=) n.705G= | |
6 | g.33435152G>T | CA3758523 | SYNGAP1 | c.252G>T (p.Arg84=) c.510G>T (p.Arg170=) c.333G>T (p.Arg111=) c.465G>T (p.Arg155=) n.705G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.33435153G>A | CA363681963 | SYNGAP1 | c.253G>A (p.Ala85Thr) c.511G>A (p.Ala171Thr) c.334G>A (p.Ala112Thr) c.466G>A (p.Ala156Thr) n.706G>A | |
6 | g.33435153G>C | CA363681964 | SYNGAP1 | c.253G>C (p.Ala85Pro) c.511G>C (p.Ala171Pro) c.334G>C (p.Ala112Pro) c.466G>C (p.Ala156Pro) n.706G>C | |
6 | g.33435153G= | CA1620011300 | SYNGAP1 | c.253G= (p.Ala85=) c.511G= (p.Ala171=) c.334G= (p.Ala112=) c.466G= (p.Ala156=) n.706G= | |
6 | g.33435153G>T | CA363681965 | SYNGAP1 | c.253G>T (p.Ala85Ser) c.511G>T (p.Ala171Ser) c.334G>T (p.Ala112Ser) c.466G>T (p.Ala156Ser) n.706G>T | dbSNP |
6 | g.33435154C>A | CA363681966 | SYNGAP1 | c.254C>A (p.Ala85Asp) c.512C>A (p.Ala171Asp) c.335C>A (p.Ala112Asp) c.467C>A (p.Ala156Asp) n.707C>A | |
6 | g.33435154C= | CA1620011301 | SYNGAP1 | c.254C= (p.Ala85=) c.512C= (p.Ala171=) c.335C= (p.Ala112=) c.467C= (p.Ala156=) n.707C= | |
6 | g.33435154C>G | CA363681967 | SYNGAP1 | c.254C>G (p.Ala85Gly) c.512C>G (p.Ala171Gly) c.335C>G (p.Ala112Gly) c.467C>G (p.Ala156Gly) n.707C>G | |
6 | g.33435154C>T | CA363681968 | SYNGAP1 | c.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 |
6 | g.33435155C>A | CA450106883 | SYNGAP1 | c.255C>A (p.Ala85=) c.513C>A (p.Ala171=) c.336C>A (p.Ala112=) c.468C>A (p.Ala156=) n.708C>A | |
6 | g.33435155C>G | CA450106881 | SYNGAP1 | c.255C>G (p.Ala85=) c.513C>G (p.Ala171=) c.336C>G (p.Ala112=) c.468C>G (p.Ala156=) n.708C>G | |
6 | g.33435155C>T | CA450106882 | SYNGAP1 | c.255C>T (p.Ala85=) c.513C>T (p.Ala171=) c.336C>T (p.Ala112=) c.468C>T (p.Ala156=) n.708C>T | |
6 | g.33435156C>A | CA450106884 | SYNGAP1 | c.256C>A (p.Arg86=) c.514C>A (p.Arg172=) c.337C>A (p.Arg113=) c.469C>A (p.Arg157=) n.709C>A | ClinVar |
6 | g.33435156C= | CA1620011302 | SYNGAP1 | c.256C= (p.Arg86=) c.514C= (p.Arg172=) c.337C= (p.Arg113=) c.469C= (p.Arg157=) n.709C= | |
6 | g.33435156C>G | CA363681969 | SYNGAP1 | c.256C>G (p.Arg86Gly) c.514C>G (p.Arg172Gly) c.337C>G (p.Arg113Gly) c.469C>G (p.Arg157Gly) n.709C>G | |
6 | g.33435156C>T | CA3758524 | SYNGAP1 | c.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 |
6 | g.33435157G>A | CA363681970 | SYNGAP1 | c.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 |
6 | g.33435157G>C | CA363681971 | SYNGAP1 | c.257G>C (p.Arg86Pro) c.515G>C (p.Arg172Pro) c.338G>C (p.Arg113Pro) c.470G>C (p.Arg157Pro) n.710G>C | |
6 | g.33435157G= | CA1620011303 | SYNGAP1 | c.257G= (p.Arg86=) c.515G= (p.Arg172=) c.338G= (p.Arg113=) c.470G= (p.Arg157=) n.710G= | |
6 | g.33435157G>T | CA363681972 | SYNGAP1 | c.257G>T (p.Arg86Leu) c.515G>T (p.Arg172Leu) c.338G>T (p.Arg113Leu) c.470G>T (p.Arg157Leu) n.710G>T | |
6 | g.33435158G>A | CA450106885 | SYNGAP1 | c.258G>A (p.Arg86=) c.516G>A (p.Arg172=) c.339G>A (p.Arg113=) c.471G>A (p.Arg157=) n.711G>A | |
6 | g.33435158G>C | CA450106886 | SYNGAP1 | c.258G>C (p.Arg86=) c.516G>C (p.Arg172=) c.339G>C (p.Arg113=) c.471G>C (p.Arg157=) n.711G>C | |
6 | g.33435158G>T | CA450106887 | SYNGAP1 | c.258G>T (p.Arg86=) c.516G>T (p.Arg172=) c.339G>T (p.Arg113=) c.471G>T (p.Arg157=) n.711G>T | |
6 | g.33435159C>A | CA363681973 | SYNGAP1 | c.259C>A (p.Leu87Met) c.517C>A (p.Leu173Met) c.340C>A (p.Leu114Met) c.472C>A (p.Leu158Met) n.712C>A | |
6 | g.33435159C>G | CA363681974 | SYNGAP1 | c.259C>G (p.Leu87Val) c.517C>G (p.Leu173Val) c.340C>G (p.Leu114Val) c.472C>G (p.Leu158Val) n.712C>G | |
6 | g.33435159C>T | CA450106888 | SYNGAP1 | c.259C>T (p.Leu87=) c.517C>T (p.Leu173=) c.340C>T (p.Leu114=) c.472C>T (p.Leu158=) n.712C>T | |
6 | g.33435160T>A | CA363681975 | SYNGAP1 | c.260T>A (p.Leu87Gln) c.518T>A (p.Leu173Gln) c.341T>A (p.Leu114Gln) c.473T>A (p.Leu158Gln) n.713T>A | |
6 | g.33435160T>C | CA363681976 | SYNGAP1 | c.260T>C (p.Leu87Pro) c.518T>C (p.Leu173Pro) c.341T>C (p.Leu114Pro) c.473T>C (p.Leu158Pro) n.713T>C | |
6 | g.33435160T>G | CA363681977 | SYNGAP1 | c.260T>G (p.Leu87Arg) c.518T>G (p.Leu173Arg) c.341T>G (p.Leu114Arg) c.473T>G (p.Leu158Arg) n.713T>G | |
6 | g.33435161G>A | CA3758525 | SYNGAP1 | c.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 |
6 | g.33435161G>C | CA450106889 | SYNGAP1 | c.261G>C (p.Leu87=) c.519G>C (p.Leu173=) c.342G>C (p.Leu114=) c.474G>C (p.Leu158=) n.714G>C | |
6 | g.33435161G= | CA1620011304 | SYNGAP1 | c.261G= (p.Leu87=) c.519G= (p.Leu173=) c.342G= (p.Leu114=) c.474G= (p.Leu158=) n.714G= | |
6 | g.33435161G>T | CA450106890 | SYNGAP1 | c.261G>T (p.Leu87=) c.519G>T (p.Leu173=) c.342G>T (p.Leu114=) c.474G>T (p.Leu158=) n.714G>T | |
6 | g.33435162A= | CA1620011305 | SYNGAP1 | c.262A= (p.Met88=) c.520A= (p.Met174=) c.343A= (p.Met115=) c.475A= (p.Met159=) n.715A= | |
6 | g.33435162A>C | CA363681978 | SYNGAP1 | c.262A>C (p.Met88Leu) c.520A>C (p.Met174Leu) c.343A>C (p.Met115Leu) c.475A>C (p.Met159Leu) n.715A>C | |
6 | g.33435162A>G | CA3758526 | SYNGAP1 | c.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 |
6 | g.33435162A>T | CA363681979 | SYNGAP1 | c.262A>T (p.Met88Leu) c.520A>T (p.Met174Leu) c.343A>T (p.Met115Leu) c.475A>T (p.Met159Leu) n.715A>T | |
6 | g.33435163T>A | CA363681980 | SYNGAP1 | c.263T>A (p.Met88Lys) c.521T>A (p.Met174Lys) c.344T>A (p.Met115Lys) c.476T>A (p.Met159Lys) n.716T>A | |
6 | g.33435163T>C | CA363681981 | SYNGAP1 | c.263T>C (p.Met88Thr) c.521T>C (p.Met174Thr) c.344T>C (p.Met115Thr) c.476T>C (p.Met159Thr) n.716T>C | |
6 | g.33435163T>G | CA363681982 | SYNGAP1 | c.263T>G (p.Met88Arg) c.521T>G (p.Met174Arg) c.344T>G (p.Met115Arg) c.476T>G (p.Met159Arg) n.716T>G | |
6 | g.33435164G>A | CA363681983 | SYNGAP1 | c.264G>A (p.Met88Ile) c.522G>A (p.Met174Ile) c.345G>A (p.Met115Ile) c.477G>A (p.Met159Ile) n.717G>A | gnomAD v4 |
6 | g.33435164G>C | CA363681985 | SYNGAP1 | c.264G>C (p.Met88Ile) c.522G>C (p.Met174Ile) c.345G>C (p.Met115Ile) c.477G>C (p.Met159Ile) n.717G>C | |
6 | g.33435164G>T | CA363681984 | SYNGAP1 | c.264G>T (p.Met88Ile) c.522G>T (p.Met174Ile) c.345G>T (p.Met115Ile) c.477G>T (p.Met159Ile) n.717G>T | |
6 | g.33435165C>A | CA363681986 | SYNGAP1 | c.265C>A (p.Gln89Lys) c.523C>A (p.Gln175Lys) c.346C>A (p.Gln116Lys) c.478C>A (p.Gln160Lys) n.718C>A | |
6 | g.33435165C= | CA1620011306 | SYNGAP1 | c.265C= (p.Gln89=) c.523C= (p.Gln175=) c.346C= (p.Gln116=) c.478C= (p.Gln160=) n.718C= | |
6 | g.33435165C>G | CA363681987 | SYNGAP1 | c.265C>G (p.Gln89Glu) c.523C>G (p.Gln175Glu) c.346C>G (p.Gln116Glu) c.478C>G (p.Gln160Glu) n.718C>G | |
6 | g.33435165C>T | CA363681988 | SYNGAP1 | c.265C>T (p.Gln89Ter) c.523C>T (p.Gln175Ter) c.346C>T (p.Gln116Ter) c.478C>T (p.Gln160Ter) n.718C>T | dbSNP |
6 | g.33435166A>C | CA363681989 | SYNGAP1 | c.266A>C (p.Gln89Pro) c.524A>C (p.Gln175Pro) c.347A>C (p.Gln116Pro) c.479A>C (p.Gln160Pro) n.719A>C | gnomAD v4 |
6 | g.33435166A>G | CA363681990 | SYNGAP1 | c.266A>G (p.Gln89Arg) c.524A>G (p.Gln175Arg) c.347A>G (p.Gln116Arg) c.479A>G (p.Gln160Arg) n.719A>G | |
6 | g.33435166A>T | CA363681991 | SYNGAP1 | c.266A>T (p.Gln89Leu) c.524A>T (p.Gln175Leu) c.347A>T (p.Gln116Leu) c.479A>T (p.Gln160Leu) n.719A>T | |
6 | g.33435168dup | CA2842964032 | SYNGAP1 | c.268dup (p.Ser90LysfsTer3) c.526dup (p.Ser176LysfsTer3) c.349dup (p.Ser117LysfsTer3) c.481dup (p.Ser161LysfsTer3) n.721dup | |
6 | g.33435167A>C | CA363681992 | SYNGAP1 | c.267A>C (p.Gln89His) c.525A>C (p.Gln175His) c.348A>C (p.Gln116His) c.480A>C (p.Gln160His) n.720A>C | |
6 | g.33435167A>G | CA450106891 | SYNGAP1 | c.267A>G (p.Gln89=) c.525A>G (p.Gln175=) c.348A>G (p.Gln116=) c.480A>G (p.Gln160=) n.720A>G | |
6 | g.33435167A>T | CA363681993 | SYNGAP1 | c.267A>T (p.Gln89His) c.525A>T (p.Gln175His) c.348A>T (p.Gln116His) c.480A>T (p.Gln160His) n.720A>T | |
6 | g.33435168A>C | CA363681994 | SYNGAP1 | c.268A>C (p.Ser90Arg) c.526A>C (p.Ser176Arg) c.349A>C (p.Ser117Arg) c.481A>C (p.Ser161Arg) n.721A>C | |
6 | g.33435168A>G | CA363681995 | SYNGAP1 | c.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 |
6 | g.33435168A>T | CA363681996 | SYNGAP1 | c.268A>T (p.Ser90Cys) c.526A>T (p.Ser176Cys) c.349A>T (p.Ser117Cys) c.481A>T (p.Ser161Cys) n.721A>T | |
6 | g.33435169G>A | CA363681997 | SYNGAP1 | c.269G>A (p.Ser90Asn) c.527G>A (p.Ser176Asn) c.350G>A (p.Ser117Asn) c.482G>A (p.Ser161Asn) n.722G>A | gnomAD v4 |
6 | g.33435169G>C | CA363681999 | SYNGAP1 | c.269G>C (p.Ser90Thr) c.527G>C (p.Ser176Thr) c.350G>C (p.Ser117Thr) c.482G>C (p.Ser161Thr) n.722G>C | |
6 | g.33435169G>T | CA363681998 | SYNGAP1 | c.269G>T (p.Ser90Ile) c.527G>T (p.Ser176Ile) c.350G>T (p.Ser117Ile) c.482G>T (p.Ser161Ile) n.722G>T | |
6 | g.33435170C>A | CA363682000 | SYNGAP1 | c.270C>A (p.Ser90Arg) c.528C>A (p.Ser176Arg) c.351C>A (p.Ser117Arg) c.483C>A (p.Ser161Arg) n.723C>A | |
6 | g.33435170C>G | CA363682001 | SYNGAP1 | c.270C>G (p.Ser90Arg) c.528C>G (p.Ser176Arg) c.351C>G (p.Ser117Arg) c.483C>G (p.Ser161Arg) n.723C>G | |
6 | g.33435170C>T | CA450106892 | SYNGAP1 | c.270C>T (p.Ser90=) c.528C>T (p.Ser176=) c.351C>T (p.Ser117=) c.483C>T (p.Ser161=) n.723C>T | |
6 | g.33435171T>A | CA363682002 | SYNGAP1 | c.271T>A (p.Phe91Ile) c.529T>A (p.Phe177Ile) c.352T>A (p.Phe118Ile) c.484T>A (p.Phe162Ile) n.724T>A | |
6 | g.33435171T>C | CA363682003 | SYNGAP1 | c.271T>C (p.Phe91Leu) c.529T>C (p.Phe177Leu) c.352T>C (p.Phe118Leu) c.484T>C (p.Phe162Leu) n.724T>C | |
6 | g.33435171T>G | CA363682004 | SYNGAP1 | c.271T>G (p.Phe91Val) c.529T>G (p.Phe177Val) c.352T>G (p.Phe118Val) c.484T>G (p.Phe162Val) n.724T>G | |
6 | g.33435172T>A | CA363682005 | SYNGAP1 | c.272T>A (p.Phe91Tyr) c.530T>A (p.Phe177Tyr) c.353T>A (p.Phe118Tyr) c.485T>A (p.Phe162Tyr) n.725T>A | |
6 | g.33435172T>C | CA363682006 | SYNGAP1 | c.272T>C (p.Phe91Ser) c.530T>C (p.Phe177Ser) c.353T>C (p.Phe118Ser) c.485T>C (p.Phe162Ser) n.725T>C | |
6 | g.33435172T>G | CA363682007 | SYNGAP1 | c.272T>G (p.Phe91Cys) c.530T>G (p.Phe177Cys) c.353T>G (p.Phe118Cys) c.485T>G (p.Phe162Cys) n.725T>G | |
6 | g.33435173T>A | CA363682008 | SYNGAP1 | c.273T>A (p.Phe91Leu) c.531T>A (p.Phe177Leu) c.354T>A (p.Phe118Leu) c.486T>A (p.Phe162Leu) n.726T>A | |
6 | g.33435173T>C | CA450106893 | SYNGAP1 | c.273T>C (p.Phe91=) c.531T>C (p.Phe177=) c.354T>C (p.Phe118=) c.486T>C (p.Phe162=) n.726T>C | |
6 | g.33435173T>G | CA363682009 | SYNGAP1 | c.273T>G (p.Phe91Leu) c.531T>G (p.Phe177Leu) c.354T>G (p.Phe118Leu) c.486T>G (p.Phe162Leu) n.726T>G | |
6 | g.33435173_33435174del | CA2695202899 | SYNGAP1 | c.273_274del (p.Phe91LeufsTer7) c.531_532del (p.Phe177LeufsTer7) c.354_355del (p.Phe118LeufsTer7) c.486_487del (p.Phe162LeufsTer7) n.726_727del | ClinVar |
6 | g.33435174A= | CA1620011307 | SYNGAP1 | c.274A= (p.Lys92=) c.532A= (p.Lys178=) c.355A= (p.Lys119=) c.487A= (p.Lys163=) n.727A= | |
6 | g.33435174A>C | CA363682010 | SYNGAP1 | c.274A>C (p.Lys92Gln) c.532A>C (p.Lys178Gln) c.355A>C (p.Lys119Gln) c.487A>C (p.Lys163Gln) n.727A>C | |
6 | g.33435174A>G | CA363682011 | SYNGAP1 | c.274A>G (p.Lys92Glu) c.532A>G (p.Lys178Glu) c.355A>G (p.Lys119Glu) c.487A>G (p.Lys163Glu) n.727A>G | |
6 | g.33435174A>T | CA363682012 | SYNGAP1 | c.274A>T (p.Lys92Ter) c.532A>T (p.Lys178Ter) c.355A>T (p.Lys119Ter) c.487A>T (p.Lys163Ter) n.727A>T | dbSNP |
6 | g.33435175A= | CA1620011308 | SYNGAP1 | c.275A= (p.Lys92=) c.533A= (p.Lys178=) c.356A= (p.Lys119=) c.488A= (p.Lys163=) n.728A= | |
6 | g.33435175A>C | CA363682013 | SYNGAP1 | c.275A>C (p.Lys92Thr) c.533A>C (p.Lys178Thr) c.356A>C (p.Lys119Thr) c.488A>C (p.Lys163Thr) n.728A>C | |
6 | g.33435175A>G | CA3758527 | SYNGAP1 | c.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 |
6 | g.33435175A>T | CA363682014 | SYNGAP1 | c.275A>T (p.Lys92Met) c.533A>T (p.Lys178Met) c.356A>T (p.Lys119Met) c.488A>T (p.Lys163Met) n.728A>T | |
6 | g.33435175_33435176delinsAG | CA1620011309 | SYNGAP1 | c.275_276delinsAG (p.Lys92=) c.533_534delinsAG (p.Lys178=) c.356_357delinsAG (p.Lys119=) c.488_489delinsAG (p.Lys163=) n.728_729delinsAG | |
6 | g.33435176G>A | CA450106894 | SYNGAP1 | c.276G>A (p.Lys92=) c.534G>A (p.Lys178=) c.357G>A (p.Lys119=) c.489G>A (p.Lys163=) n.729G>A | gnomAD v4 |
6 | g.33435176G>C | CA363682015 | SYNGAP1 | c.276G>C (p.Lys92Asn) c.534G>C (p.Lys178Asn) c.357G>C (p.Lys119Asn) c.489G>C (p.Lys163Asn) n.729G>C | |
6 | g.33435176G>T | CA363682016 | SYNGAP1 | c.276G>T (p.Lys92Asn) c.534G>T (p.Lys178Asn) c.357G>T (p.Lys119Asn) c.489G>T (p.Lys163Asn) n.729G>T | |
6 | g.33435177del | CA236444 | SYNGAP1 | c.277del (p.Glu93SerfsTer9) c.535del (p.Glu179SerfsTer9) c.358del (p.Glu120SerfsTer9) c.490del (p.Glu164SerfsTer9) n.730del | ClinVar dbSNP |
6 | g.33435177G>A | CA363682017 | SYNGAP1 | c.277G>A (p.Glu93Lys) c.535G>A (p.Glu179Lys) c.358G>A (p.Glu120Lys) c.490G>A (p.Glu164Lys) n.730G>A | |
6 | g.33435177G>C | CA363682018 | SYNGAP1 | c.277G>C (p.Glu93Gln) c.535G>C (p.Glu179Gln) c.358G>C (p.Glu120Gln) c.490G>C (p.Glu164Gln) n.730G>C | |
6 | g.33435177G= | CA1620011310 | SYNGAP1 | c.277G= (p.Glu93=) c.535G= (p.Glu179=) c.358G= (p.Glu120=) c.490G= (p.Glu164=) n.730G= | |
6 | g.33435177G>T | CA363682019 | SYNGAP1 | c.277G>T (p.Glu93Ter) c.535G>T (p.Glu179Ter) c.358G>T (p.Glu120Ter) c.490G>T (p.Glu164Ter) n.730G>T | dbSNP |
6 | g.33435178A>C | CA363682020 | SYNGAP1 | c.278A>C (p.Glu93Ala) c.536A>C (p.Glu179Ala) c.359A>C (p.Glu120Ala) c.491A>C (p.Glu164Ala) n.731A>C | |
6 | g.33435178A>G | CA363682021 | SYNGAP1 | c.278A>G (p.Glu93Gly) c.536A>G (p.Glu179Gly) c.359A>G (p.Glu120Gly) c.491A>G (p.Glu164Gly) n.731A>G | |
6 | g.33435178A>T | CA363682022 | SYNGAP1 | c.278A>T (p.Glu93Val) c.536A>T (p.Glu179Val) c.359A>T (p.Glu120Val) c.491A>T (p.Glu164Val) n.731A>T | |
6 | g.33435179G>A | CA450106895 | SYNGAP1 | c.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 |
6 | g.33435179G>C | CA363682023 | SYNGAP1 | c.279G>C (p.Glu93Asp) c.537G>C (p.Glu179Asp) c.360G>C (p.Glu120Asp) c.492G>C (p.Glu164Asp) n.732G>C | |
6 | g.33435179G= | CA1620011311 | SYNGAP1 | c.279G= (p.Glu93=) c.537G= (p.Glu179=) c.360G= (p.Glu120=) c.492G= (p.Glu164=) n.732G= | |
6 | g.33435179G>T | CA363682024 | SYNGAP1 | c.279G>T (p.Glu93Asp) c.537G>T (p.Glu179Asp) c.360G>T (p.Glu120Asp) c.492G>T (p.Glu164Asp) n.732G>T | |
6 | g.33435180T>A | CA363682026 | SYNGAP1 | c.280T>A (p.Ser94Thr) c.538T>A (p.Ser180Thr) c.361T>A (p.Ser121Thr) c.493T>A (p.Ser165Thr) n.733T>A | |
6 | g.33435180T>C | CA363682027 | SYNGAP1 | c.280T>C (p.Ser94Pro) c.538T>C (p.Ser180Pro) c.361T>C (p.Ser121Pro) c.493T>C (p.Ser165Pro) n.733T>C | |
6 | g.33435180T>G | CA363682025 | SYNGAP1 | c.280T>G (p.Ser94Ala) c.538T>G (p.Ser180Ala) c.361T>G (p.Ser121Ala) c.493T>G (p.Ser165Ala) n.733T>G | |
6 | g.33435180T= | CA1620011312 | SYNGAP1 | c.280T= (p.Ser94=) c.538T= (p.Ser180=) c.361T= (p.Ser121=) c.493T= (p.Ser165=) n.733T= | |
6 | g.33435181C>A | CA363682029 | SYNGAP1 | c.281C>A (p.Ser94Ter) c.539C>A (p.Ser180Ter) c.362C>A (p.Ser121Ter) c.494C>A (p.Ser165Ter) n.734C>A | |
6 | g.33435181C>G | CA363682028 | SYNGAP1 | c.281C>G (p.Ser94Ter) c.539C>G (p.Ser180Ter) c.362C>G (p.Ser121Ter) c.494C>G (p.Ser165Ter) n.734C>G | |
6 | g.33435181C>T | CA363682030 | SYNGAP1 | c.281C>T (p.Ser94Leu) c.539C>T (p.Ser180Leu) c.362C>T (p.Ser121Leu) c.494C>T (p.Ser165Leu) n.734C>T | |
6 | g.33435181dup | CA913190066 | SYNGAP1 | c.281dup (p.His95ThrfsTer4) c.539dup (p.His181ThrfsTer4) c.362dup (p.His122ThrfsTer4) c.494dup (p.His166ThrfsTer4) n.734dup | ClinVar dbSNP |
6 | g.33435182A>C | CA450106896 | SYNGAP1 | c.282A>C (p.Ser94=) c.540A>C (p.Ser180=) c.363A>C (p.Ser121=) c.495A>C (p.Ser165=) n.735A>C | |
6 | g.33435182A>G | CA450106897 | SYNGAP1 | c.282A>G (p.Ser94=) c.540A>G (p.Ser180=) c.363A>G (p.Ser121=) c.495A>G (p.Ser165=) n.735A>G | |
6 | g.33435182A>T | CA450106898 | SYNGAP1 | c.282A>T (p.Ser94=) c.540A>T (p.Ser180=) c.363A>T (p.Ser121=) c.495A>T (p.Ser165=) n.735A>T | |
6 | g.33435183C>A | CA363682031 | SYNGAP1 | c.283C>A (p.His95Asn) c.541C>A (p.His181Asn) c.364C>A (p.His122Asn) c.496C>A (p.His166Asn) n.736C>A | |
6 | g.33435183C>G | CA363682032 | SYNGAP1 | c.283C>G (p.His95Asp) c.541C>G (p.His181Asp) c.364C>G (p.His122Asp) c.496C>G (p.His166Asp) n.736C>G | |
6 | g.33435183C>T | CA363682033 | SYNGAP1 | c.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 |
6 | g.33435184A>C | CA363682034 | SYNGAP1 | c.284A>C (p.His95Pro) c.542A>C (p.His181Pro) c.365A>C (p.His122Pro) c.497A>C (p.His166Pro) n.737A>C | |
6 | g.33435184A>G | CA363682035 | SYNGAP1 | c.284A>G (p.His95Arg) c.542A>G (p.His181Arg) c.365A>G (p.His122Arg) c.497A>G (p.His166Arg) n.737A>G | |
6 | g.33435184A>T | CA363682036 | SYNGAP1 | c.284A>T (p.His95Leu) c.542A>T (p.His181Leu) c.365A>T (p.His122Leu) c.497A>T (p.His166Leu) n.737A>T | |
6 | g.33435185C>A | CA363682037 | SYNGAP1 | c.285C>A (p.His95Gln) c.543C>A (p.His181Gln) c.366C>A (p.His122Gln) c.498C>A (p.His166Gln) n.738C>A | |
6 | g.33435185C= | CA1620011313 | SYNGAP1 | c.285C= (p.His95=) c.543C= (p.His181=) c.366C= (p.His122=) c.498C= (p.His166=) n.738C= | |
6 | g.33435185C>G | CA363682038 | SYNGAP1 | c.285C>G (p.His95Gln) c.543C>G (p.His181Gln) c.366C>G (p.His122Gln) c.498C>G (p.His166Gln) n.738C>G | |
6 | g.33435185C>T | CA450106901 | SYNGAP1 | c.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 |
6 | g.33435186T>A | CA363682039 | SYNGAP1 | c.286T>A (p.Ser96Thr) c.544T>A (p.Ser182Thr) c.367T>A (p.Ser123Thr) c.499T>A (p.Ser167Thr) n.739T>A | |
6 | g.33435186T>C | CA363682040 | SYNGAP1 | c.286T>C (p.Ser96Pro) c.544T>C (p.Ser182Pro) c.367T>C (p.Ser123Pro) c.499T>C (p.Ser167Pro) n.739T>C | |
6 | g.33435186T>G | CA363682041 | SYNGAP1 | c.286T>G (p.Ser96Ala) c.544T>G (p.Ser182Ala) c.367T>G (p.Ser123Ala) c.499T>G (p.Ser167Ala) n.739T>G | |
6 | g.33435187C>A | CA363682044 | SYNGAP1 | c.287C>A (p.Ser96Tyr) c.545C>A (p.Ser182Tyr) c.368C>A (p.Ser123Tyr) c.500C>A (p.Ser167Tyr) n.740C>A | |
6 | g.33435187C>G | CA363682043 | SYNGAP1 | c.287C>G (p.Ser96Cys) c.545C>G (p.Ser182Cys) c.368C>G (p.Ser123Cys) c.500C>G (p.Ser167Cys) n.740C>G | |
6 | g.33435187C>T | CA363682042 | SYNGAP1 | c.287C>T (p.Ser96Phe) c.545C>T (p.Ser182Phe) c.368C>T (p.Ser123Phe) c.500C>T (p.Ser167Phe) n.740C>T | |
6 | g.33435188T>A | CA450106905 | SYNGAP1 | c.288T>A (p.Ser96=) c.546T>A (p.Ser182=) c.369T>A (p.Ser123=) c.501T>A (p.Ser167=) n.741T>A | |
6 | g.33435188T>C | CA3758528 | SYNGAP1 | c.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 |
6 | g.33435188T>G | CA450106906 | SYNGAP1 | c.288T>G (p.Ser96=) c.546T>G (p.Ser182=) c.369T>G (p.Ser123=) c.501T>G (p.Ser167=) n.741T>G | |
6 | g.33435188T= | CA1620011314 | SYNGAP1 | c.288T= (p.Ser96=) c.546T= (p.Ser182=) c.369T= (p.Ser123=) c.501T= (p.Ser167=) n.741T= | |
6 | g.33435189C>A | CA363682045 | SYNGAP1 | c.289C>A (p.His97Asn) c.547C>A (p.His183Asn) c.370C>A (p.His124Asn) c.502C>A (p.His168Asn) n.742C>A | |
6 | g.33435189C>G | CA363682046 | SYNGAP1 | c.289C>G (p.His97Asp) c.547C>G (p.His183Asp) c.370C>G (p.His124Asp) c.502C>G (p.His168Asp) n.742C>G | |
6 | g.33435189C>T | CA363682047 | SYNGAP1 | c.289C>T (p.His97Tyr) c.547C>T (p.His183Tyr) c.370C>T (p.His124Tyr) c.502C>T (p.His168Tyr) n.742C>T | |
6 | g.33435190A>C | CA363682048 | SYNGAP1 | c.290A>C (p.His97Pro) c.548A>C (p.His183Pro) c.371A>C (p.His124Pro) c.503A>C (p.His168Pro) n.743A>C | |
6 | g.33435190A>G | CA363682049 | SYNGAP1 | c.290A>G (p.His97Arg) c.548A>G (p.His183Arg) c.371A>G (p.His124Arg) c.503A>G (p.His168Arg) n.743A>G | |
6 | g.33435190A>T | CA363682050 | SYNGAP1 | c.290A>T (p.His97Leu) c.548A>T (p.His183Leu) c.371A>T (p.His124Leu) c.503A>T (p.His168Leu) n.743A>T | |
6 | g.33435191T>A | CA363682051 | SYNGAP1 | c.291T>A (p.His97Gln) c.549T>A (p.His183Gln) c.372T>A (p.His124Gln) c.504T>A (p.His168Gln) n.744T>A | |
6 | g.33435191T>C | CA450106910 | SYNGAP1 | c.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 |
6 | g.33435191T>G | CA363682052 | SYNGAP1 | c.291T>G (p.His97Gln) c.549T>G (p.His183Gln) c.372T>G (p.His124Gln) c.504T>G (p.His168Gln) n.744T>G | COSMIC COSMIC |
6 | g.33435191T= | CA1620011315 | SYNGAP1 | c.291T= (p.His97=) c.549T= (p.His183=) c.372T= (p.His124=) c.504T= (p.His168=) n.744T= | |
6 | g.33435192G>A | CA363682053 | SYNGAP1 | c.292G>A (p.Glu98Lys) c.550G>A (p.Glu184Lys) c.373G>A (p.Glu125Lys) c.505G>A (p.Glu169Lys) n.745G>A | |
6 | g.33435192G>C | CA363682054 | SYNGAP1 | c.292G>C (p.Glu98Gln) c.550G>C (p.Glu184Gln) c.373G>C (p.Glu125Gln) c.505G>C (p.Glu169Gln) n.745G>C | |
6 | g.33435192G= | CA1620011316 | SYNGAP1 | c.292G= (p.Glu98=) c.550G= (p.Glu184=) c.373G= (p.Glu125=) c.505G= (p.Glu169=) n.745G= | |
6 | g.33435192G>T | CA363682055 | SYNGAP1 | c.292G>T (p.Glu98Ter) c.550G>T (p.Glu184Ter) c.373G>T (p.Glu125Ter) c.505G>T (p.Glu169Ter) n.745G>T | dbSNP |
6 | g.33435193A>C | CA363682057 | SYNGAP1 | c.293A>C (p.Glu98Ala) c.551A>C (p.Glu184Ala) c.374A>C (p.Glu125Ala) c.506A>C (p.Glu169Ala) n.746A>C | |
6 | g.33435193A>G | CA363682058 | SYNGAP1 | c.293A>G (p.Glu98Gly) c.551A>G (p.Glu184Gly) c.374A>G (p.Glu125Gly) c.506A>G (p.Glu169Gly) n.746A>G | |
6 | g.33435193A>T | CA363682056 | SYNGAP1 | c.293A>T (p.Glu98Val) c.551A>T (p.Glu184Val) c.374A>T (p.Glu125Val) c.506A>T (p.Glu169Val) n.746A>T | |
6 | g.33435194G>A | CA450106914 | SYNGAP1 | c.294G>A (p.Glu98=) c.552G>A (p.Glu184=) c.375G>A (p.Glu125=) c.507G>A (p.Glu169=) n.747G>A | |
6 | g.33435194G>C | CA363682059 | SYNGAP1 | c.294G>C (p.Glu98Asp) c.552G>C (p.Glu184Asp) c.375G>C (p.Glu125Asp) c.507G>C (p.Glu169Asp) n.747G>C | |
6 | g.33435194G>T | CA363682060 | SYNGAP1 | c.294G>T (p.Glu98Asp) c.552G>T (p.Glu184Asp) c.375G>T (p.Glu125Asp) c.507G>T (p.Glu169Asp) n.747G>T | |
6 | g.33435195T>A | CA363682061 | SYNGAP1 | c.295T>A (p.Ser99Thr) c.553T>A (p.Ser185Thr) c.376T>A (p.Ser126Thr) c.508T>A (p.Ser170Thr) n.748T>A | |
6 | g.33435195T>C | CA363682062 | SYNGAP1 | c.295T>C (p.Ser99Pro) c.553T>C (p.Ser185Pro) c.376T>C (p.Ser126Pro) c.508T>C (p.Ser170Pro) n.748T>C | |
6 | g.33435195T>G | CA363682063 | SYNGAP1 | c.295T>G (p.Ser99Ala) c.553T>G (p.Ser185Ala) c.376T>G (p.Ser126Ala) c.508T>G (p.Ser170Ala) n.748T>G | |
6 | g.33435196C>A | CA363682064 | SYNGAP1 | c.296C>A (p.Ser99Tyr) c.554C>A (p.Ser185Tyr) c.377C>A (p.Ser126Tyr) c.509C>A (p.Ser170Tyr) n.749C>A | |
6 | g.33435196C>G | CA363682065 | SYNGAP1 | c.296C>G (p.Ser99Cys) c.554C>G (p.Ser185Cys) c.377C>G (p.Ser126Cys) c.509C>G (p.Ser170Cys) n.749C>G | |
6 | g.33435196C>T | CA363682066 | SYNGAP1 | c.296C>T (p.Ser99Phe) c.554C>T (p.Ser185Phe) c.377C>T (p.Ser126Phe) c.509C>T (p.Ser170Phe) n.749C>T | |
6 | g.33435197C>A | CA450106919 | SYNGAP1 | c.297C>A (p.Ser99=) c.555C>A (p.Ser185=) c.378C>A (p.Ser126=) c.510C>A (p.Ser170=) n.750C>A | |
6 | g.33435197C= | CA1620011317 | SYNGAP1 | c.297C= (p.Ser99=) c.555C= (p.Ser185=) c.378C= (p.Ser126=) c.510C= (p.Ser170=) n.750C= | |
6 | g.33435197C>G | CA450106917 | SYNGAP1 | c.297C>G (p.Ser99=) c.555C>G (p.Ser185=) c.378C>G (p.Ser126=) c.510C>G (p.Ser170=) n.750C>G | |
6 | g.33435197C>T | CA450106918 | SYNGAP1 | c.297C>T (p.Ser99=) c.555C>T (p.Ser185=) c.378C>T (p.Ser126=) c.510C>T (p.Ser170=) n.750C>T | ClinVar dbSNP |
6 | g.33435198T>A | CA363682067 | SYNGAP1 | c.298T>A (p.Leu100Met) c.556T>A (p.Leu186Met) c.379T>A (p.Leu127Met) c.511T>A (p.Leu171Met) n.751T>A | |
6 | g.33435198T>C | CA450106920 | SYNGAP1 | c.298T>C (p.Leu100=) c.556T>C (p.Leu186=) c.379T>C (p.Leu127=) c.511T>C (p.Leu171=) n.751T>C | ClinVar dbSNP |
6 | g.33435198T>G | CA363682068 | SYNGAP1 | c.298T>G (p.Leu100Val) c.556T>G (p.Leu186Val) c.379T>G (p.Leu127Val) c.511T>G (p.Leu171Val) n.751T>G | |
6 | g.33435199T>A | CA363682069 | SYNGAP1 | c.299T>A (p.Leu100Ter) c.557T>A (p.Leu186Ter) c.380T>A (p.Leu127Ter) c.512T>A (p.Leu171Ter) n.752T>A | dbSNP |
6 | g.33435199T>C | CA363682070 | SYNGAP1 | c.299T>C (p.Leu100Ser) c.557T>C (p.Leu186Ser) c.380T>C (p.Leu127Ser) c.512T>C (p.Leu171Ser) n.752T>C | |
6 | g.33435199T>G | CA363682071 | SYNGAP1 | c.299T>G (p.Leu100Trp) c.557T>G (p.Leu186Trp) c.380T>G (p.Leu127Trp) c.512T>G (p.Leu171Trp) n.752T>G | |
6 | g.33435199T= | CA1620011318 | SYNGAP1 | c.299T= (p.Leu100=) c.557T= (p.Leu186=) c.380T= (p.Leu127=) c.512T= (p.Leu171=) n.752T= | |
6 | g.33435200G>A | CA450106924 | SYNGAP1 | c.300G>A (p.Leu100=) c.558G>A (p.Leu186=) c.381G>A (p.Leu127=) c.513G>A (p.Leu171=) n.753G>A | |
6 | g.33435200G>C | CA363682073 | SYNGAP1 | c.300G>C (p.Leu100Phe) c.558G>C (p.Leu186Phe) c.381G>C (p.Leu127Phe) c.513G>C (p.Leu171Phe) n.753G>C | |
6 | g.33435200G>T | CA363682072 | SYNGAP1 | c.300G>T (p.Leu100Phe) c.558G>T (p.Leu186Phe) c.381G>T (p.Leu127Phe) c.513G>T (p.Leu171Phe) n.753G>T | |
6 | g.33435201C>A | CA363682074 | SYNGAP1 | c.301C>A (p.Leu101Met) c.559C>A (p.Leu187Met) c.382C>A (p.Leu128Met) c.514C>A (p.Leu172Met) n.754C>A | |
6 | g.33435201C>G | CA363682075 | SYNGAP1 | c.301C>G (p.Leu101Val) c.559C>G (p.Leu187Val) c.382C>G (p.Leu128Val) c.514C>G (p.Leu172Val) n.754C>G | |
6 | g.33435201C>T | CA450106925 | SYNGAP1 | c.301C>T (p.Leu101=) c.559C>T (p.Leu187=) c.382C>T (p.Leu128=) c.514C>T (p.Leu172=) n.754C>T | gnomAD v4 |
6 | g.33435202T>A | CA363682076 | SYNGAP1 | c.302T>A (p.Leu101Gln) c.560T>A (p.Leu187Gln) c.383T>A (p.Leu128Gln) c.515T>A (p.Leu172Gln) n.755T>A | |
6 | g.33435202T>C | CA363682077 | SYNGAP1 | c.302T>C (p.Leu101Pro) c.560T>C (p.Leu187Pro) c.383T>C (p.Leu128Pro) c.515T>C (p.Leu172Pro) n.755T>C | gnomAD v4 |
6 | g.33435202T>G | CA363682078 | SYNGAP1 | c.302T>G (p.Leu101Arg) c.560T>G (p.Leu187Arg) c.383T>G (p.Leu128Arg) c.515T>G (p.Leu172Arg) n.755T>G | |
6 | g.33435203G>A | CA450106931 | SYNGAP1 | c.303G>A (p.Leu101=) c.561G>A (p.Leu187=) c.384G>A (p.Leu128=) c.516G>A (p.Leu172=) n.756G>A | |
6 | g.33435203G>C | CA450106929 | SYNGAP1 | c.303G>C (p.Leu101=) c.561G>C (p.Leu187=) c.384G>C (p.Leu128=) c.516G>C (p.Leu172=) n.756G>C | |
6 | g.33435203G>T | CA450106930 | SYNGAP1 | c.303G>T (p.Leu101=) c.561G>T (p.Leu187=) c.384G>T (p.Leu128=) c.516G>T (p.Leu172=) n.756G>T | |
6 | g.33435204A>C | CA363682079 | SYNGAP1 | c.304A>C (p.Ser102Arg) c.562A>C (p.Ser188Arg) c.385A>C (p.Ser129Arg) c.517A>C (p.Ser173Arg) n.757A>C | |
6 | g.33435204A>G | CA363682080 | SYNGAP1 | c.304A>G (p.Ser102Gly) c.562A>G (p.Ser188Gly) c.385A>G (p.Ser129Gly) c.517A>G (p.Ser173Gly) n.757A>G | |
6 | g.33435204A>T | CA363682081 | SYNGAP1 | c.304A>T (p.Ser102Cys) c.562A>T (p.Ser188Cys) c.385A>T (p.Ser129Cys) c.517A>T (p.Ser173Cys) n.757A>T | |
6 | g.33435205G>A | CA363682082 | SYNGAP1 | c.305G>A (p.Ser102Asn) c.563G>A (p.Ser188Asn) c.386G>A (p.Ser129Asn) c.518G>A (p.Ser173Asn) n.758G>A | |
6 | g.33435205G>C | CA363682083 | SYNGAP1 | c.305G>C (p.Ser102Thr) c.563G>C (p.Ser188Thr) c.386G>C (p.Ser129Thr) c.518G>C (p.Ser173Thr) n.758G>C | |
6 | g.33435205G>T | CA363682084 | SYNGAP1 | c.305G>T (p.Ser102Ile) c.563G>T (p.Ser188Ile) c.386G>T (p.Ser129Ile) c.518G>T (p.Ser173Ile) n.758G>T | |
6 | g.33435206T>A | CA363682085 | SYNGAP1 | c.306T>A (p.Ser102Arg) c.564T>A (p.Ser188Arg) c.387T>A (p.Ser129Arg) c.519T>A (p.Ser173Arg) n.759T>A | |
6 | g.33435206T>C | CA137097625 | SYNGAP1 | c.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 |
6 | g.33435206T>G | CA363682086 | SYNGAP1 | c.306T>G (p.Ser102Arg) c.564T>G (p.Ser188Arg) c.387T>G (p.Ser129Arg) c.519T>G (p.Ser173Arg) n.759T>G | |
6 | g.33435206T= | CA1620011319 | SYNGAP1 | c.306T= (p.Ser102=) c.564T= (p.Ser188=) c.387T= (p.Ser129=) c.519T= (p.Ser173=) n.759T= | |
6 | g.33435207C>A | CA363682089 | SYNGAP1 | c.307C>A (p.Pro103Thr) c.565C>A (p.Pro189Thr) c.388C>A (p.Pro130Thr) c.520C>A (p.Pro174Thr) n.760C>A | |
6 | g.33435207C>G | CA363682088 | SYNGAP1 | c.307C>G (p.Pro103Ala) c.565C>G (p.Pro189Ala) c.388C>G (p.Pro130Ala) c.520C>G (p.Pro174Ala) n.760C>G | |
6 | g.33435207C>T | CA363682087 | SYNGAP1 | c.307C>T (p.Pro103Ser) c.565C>T (p.Pro189Ser) c.388C>T (p.Pro130Ser) c.520C>T (p.Pro174Ser) n.760C>T | COSMIC COSMIC |
6 | g.33435208del | CA2739289876 | SYNGAP1 | c.308del (p.Pro103LeufsTer?) c.566del (p.Pro189LeufsTer?) c.389del (p.Pro130LeufsTer?) c.521del (p.Pro174LeufsTer?) n.761del | |
6 | g.33435208C>A | CA363682090 | SYNGAP1 | c.308C>A (p.Pro103His) c.566C>A (p.Pro189His) c.389C>A (p.Pro130His) c.521C>A (p.Pro174His) n.761C>A | |
6 | g.33435208C>G | CA363682092 | SYNGAP1 | c.308C>G (p.Pro103Arg) c.566C>G (p.Pro189Arg) c.389C>G (p.Pro130Arg) c.521C>G (p.Pro174Arg) n.761C>G | |
6 | g.33435208C>T | CA363682091 | SYNGAP1 | c.308C>T (p.Pro103Leu) c.566C>T (p.Pro189Leu) c.389C>T (p.Pro130Leu) c.521C>T (p.Pro174Leu) n.761C>T | |
6 | g.33435209T>A | CA450106934 | SYNGAP1 | c.309T>A (p.Pro103=) c.567T>A (p.Pro189=) c.390T>A (p.Pro130=) c.522T>A (p.Pro174=) n.762T>A | |
6 | g.33435209T>C | CA450106935 | SYNGAP1 | c.309T>C (p.Pro103=) c.567T>C (p.Pro189=) c.390T>C (p.Pro130=) c.522T>C (p.Pro174=) n.762T>C | |
6 | g.33435209T>G | CA450106936 | SYNGAP1 | c.309T>G (p.Pro103=) c.567T>G (p.Pro189=) c.390T>G (p.Pro130=) c.522T>G (p.Pro174=) n.762T>G | |
6 | g.33435210A>C | CA363682093 | SYNGAP1 | c.310A>C (p.Ser104Arg) c.568A>C (p.Ser190Arg) c.391A>C (p.Ser131Arg) c.523A>C (p.Ser175Arg) n.763A>C | |
6 | g.33435210A>G | CA363682094 | SYNGAP1 | c.310A>G (p.Ser104Gly) c.568A>G (p.Ser190Gly) c.391A>G (p.Ser131Gly) c.523A>G (p.Ser175Gly) n.763A>G | |
6 | g.33435210A>T | CA363682095 | SYNGAP1 | c.310A>T (p.Ser104Cys) c.568A>T (p.Ser190Cys) c.391A>T (p.Ser131Cys) c.523A>T (p.Ser175Cys) n.763A>T | |
6 | g.33435211G>A | CA363682096 | SYNGAP1 | c.311G>A (p.Ser104Asn) c.569G>A (p.Ser190Asn) c.392G>A (p.Ser131Asn) c.524G>A (p.Ser175Asn) n.764G>A | |
6 | g.33435211G>C | CA363682097 | SYNGAP1 | c.311G>C (p.Ser104Thr) c.569G>C (p.Ser190Thr) c.392G>C (p.Ser131Thr) c.524G>C (p.Ser175Thr) n.764G>C | |
6 | g.33435211G>T | CA363682098 | SYNGAP1 | c.311G>T (p.Ser104Ile) c.569G>T (p.Ser190Ile) c.392G>T (p.Ser131Ile) c.524G>T (p.Ser175Ile) n.764G>T | |
6 | g.33435212C>A | CA363682099 | SYNGAP1 | c.312C>A (p.Ser104Arg) c.570C>A (p.Ser190Arg) c.393C>A (p.Ser131Arg) c.525C>A (p.Ser175Arg) n.765C>A | |
6 | g.33435212C>G | CA363682100 | SYNGAP1 | c.312C>G (p.Ser104Arg) c.570C>G (p.Ser190Arg) c.393C>G (p.Ser131Arg) c.525C>G (p.Ser175Arg) n.765C>G | |
6 | g.33435212C>T | CA450106939 | SYNGAP1 | c.312C>T (p.Ser104=) c.570C>T (p.Ser190=) c.393C>T (p.Ser131=) c.525C>T (p.Ser175=) n.765C>T | gnomAD v4 |
6 | g.33435213A>C | CA363682101 | SYNGAP1 | c.313A>C (p.Ser105Arg) c.571A>C (p.Ser191Arg) c.394A>C (p.Ser132Arg) c.526A>C (p.Ser176Arg) n.766A>C | |
6 | g.33435213A>G | CA363682102 | SYNGAP1 | c.313A>G (p.Ser105Gly) c.571A>G (p.Ser191Gly) c.394A>G (p.Ser132Gly) c.526A>G (p.Ser176Gly) n.766A>G | |
6 | g.33435213A>T | CA363682103 | SYNGAP1 | c.313A>T (p.Ser105Cys) c.571A>T (p.Ser191Cys) c.394A>T (p.Ser132Cys) c.526A>T (p.Ser176Cys) n.766A>T | |
6 | g.33435214G>A | CA363682106 | SYNGAP1 | c.314G>A (p.Ser105Asn) c.572G>A (p.Ser191Asn) c.395G>A (p.Ser132Asn) c.527G>A (p.Ser176Asn) n.767G>A | |
6 | g.33435214G>C | CA363682104 | SYNGAP1 | c.314G>C (p.Ser105Thr) c.572G>C (p.Ser191Thr) c.395G>C (p.Ser132Thr) c.527G>C (p.Ser176Thr) n.767G>C | |
6 | g.33435214G>T | CA363682105 | SYNGAP1 | c.314G>T (p.Ser105Ile) c.572G>T (p.Ser191Ile) c.395G>T (p.Ser132Ile) c.527G>T (p.Ser176Ile) n.767G>T | |
6 | g.33435215T>A | CA363682107 | SYNGAP1 | c.315T>A (p.Ser105Arg) c.573T>A (p.Ser191Arg) c.396T>A (p.Ser132Arg) c.528T>A (p.Ser176Arg) n.768T>A | |
6 | g.33435215T>C | CA450106942 | SYNGAP1 | c.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 |
6 | g.33435215T>G | CA363682108 | SYNGAP1 | c.315T>G (p.Ser105Arg) c.573T>G (p.Ser191Arg) c.396T>G (p.Ser132Arg) c.528T>G (p.Ser176Arg) n.768T>G | |
6 | g.33435215T= | CA1620011320 | SYNGAP1 | c.315T= (p.Ser105=) c.573T= (p.Ser191=) c.396T= (p.Ser132=) c.528T= (p.Ser176=) n.768T= | |
6 | g.33435216G>A | CA363682109 | SYNGAP1 | c.316G>A (p.Ala106Thr) c.574G>A (p.Ala192Thr) c.397G>A (p.Ala133Thr) c.529G>A (p.Ala177Thr) n.769G>A | |
6 | g.33435216G>C | CA363682110 | SYNGAP1 | c.316G>C (p.Ala106Pro) c.574G>C (p.Ala192Pro) c.397G>C (p.Ala133Pro) c.529G>C (p.Ala177Pro) n.769G>C | |
6 | g.33435216G>T | CA363682111 | SYNGAP1 | c.316G>T (p.Ala106Ser) c.574G>T (p.Ala192Ser) c.397G>T (p.Ala133Ser) c.529G>T (p.Ala177Ser) n.769G>T | |
6 | g.33435217C>A | CA363682112 | SYNGAP1 | c.317C>A (p.Ala106Glu) c.575C>A (p.Ala192Glu) c.398C>A (p.Ala133Glu) c.530C>A (p.Ala177Glu) n.770C>A | |
6 | g.33435217C>G | CA363682113 | SYNGAP1 | c.317C>G (p.Ala106Gly) c.575C>G (p.Ala192Gly) c.398C>G (p.Ala133Gly) c.530C>G (p.Ala177Gly) n.770C>G | |
6 | g.33435217C>T | CA363682114 | SYNGAP1 | c.317C>T (p.Ala106Val) c.575C>T (p.Ala192Val) c.398C>T (p.Ala133Val) c.530C>T (p.Ala177Val) n.770C>T | |
6 | g.33435218A= | CA1620011321 | SYNGAP1 | c.318A= (p.Ala106=) c.576A= (p.Ala192=) c.399A= (p.Ala133=) c.531A= (p.Ala177=) n.771A= | |
6 | g.33435218A>C | CA450106945 | SYNGAP1 | c.318A>C (p.Ala106=) c.576A>C (p.Ala192=) c.399A>C (p.Ala133=) c.531A>C (p.Ala177=) n.771A>C | |
6 | g.33435218A>G | CA450106946 | SYNGAP1 | c.318A>G (p.Ala106=) c.576A>G (p.Ala192=) c.399A>G (p.Ala133=) c.531A>G (p.Ala177=) n.771A>G | dbSNP |
6 | g.33435218A>T | CA450106948 | SYNGAP1 | c.318A>T (p.Ala106=) c.576A>T (p.Ala192=) c.399A>T (p.Ala133=) c.531A>T (p.Ala177=) n.771A>T | |
6 | g.33435219G>A | CA363682115 | SYNGAP1 | c.319G>A (p.Ala107Thr) c.577G>A (p.Ala193Thr) c.400G>A (p.Ala134Thr) c.532G>A (p.Ala178Thr) n.772G>A | |
6 | g.33435219G>C | CA363682116 | SYNGAP1 | c.319G>C (p.Ala107Pro) c.577G>C (p.Ala193Pro) c.400G>C (p.Ala134Pro) c.532G>C (p.Ala178Pro) n.772G>C | |
6 | g.33435219G>T | CA363682117 | SYNGAP1 | c.319G>T (p.Ala107Ser) c.577G>T (p.Ala193Ser) c.400G>T (p.Ala134Ser) c.532G>T (p.Ala178Ser) n.772G>T | |
6 | g.33435220C>A | CA363682119 | SYNGAP1 | c.320C>A (p.Ala107Asp) c.578C>A (p.Ala193Asp) c.401C>A (p.Ala134Asp) c.533C>A (p.Ala178Asp) n.773C>A | |
6 | g.33435220C>G | CA363682120 | SYNGAP1 | c.320C>G (p.Ala107Gly) c.578C>G (p.Ala193Gly) c.401C>G (p.Ala134Gly) c.533C>G (p.Ala178Gly) n.773C>G | |
6 | g.33435220C>T | CA363682118 | SYNGAP1 | c.320C>T (p.Ala107Val) c.578C>T (p.Ala193Val) c.401C>T (p.Ala134Val) c.533C>T (p.Ala178Val) n.773C>T | |
6 | g.33435221T>A | CA450106952 | SYNGAP1 | c.321T>A (p.Ala107=) c.579T>A (p.Ala193=) c.402T>A (p.Ala134=) c.534T>A (p.Ala178=) n.774T>A | |
6 | g.33435221T>C | CA450106954 | SYNGAP1 | c.321T>C (p.Ala107=) c.579T>C (p.Ala193=) c.402T>C (p.Ala134=) c.534T>C (p.Ala178=) n.774T>C | |
6 | g.33435221T>G | CA450106956 | SYNGAP1 | c.321T>G (p.Ala107=) c.579T>G (p.Ala193=) c.402T>G (p.Ala134=) c.534T>G (p.Ala178=) n.774T>G | |
6 | g.33435222G>A | CA363682121 | SYNGAP1 | c.322G>A (p.Glu108Lys) c.580G>A (p.Glu194Lys) c.403G>A (p.Glu135Lys) c.535G>A (p.Glu179Lys) n.775G>A | |
6 | g.33435222G>C | CA363682122 | SYNGAP1 | c.322G>C (p.Glu108Gln) c.580G>C (p.Glu194Gln) c.403G>C (p.Glu135Gln) c.535G>C (p.Glu179Gln) n.775G>C | |
6 | g.33435222G= | CA1620011322 | SYNGAP1 | c.322G= (p.Glu108=) c.580G= (p.Glu194=) c.403G= (p.Glu135=) c.535G= (p.Glu179=) n.775G= | |
6 | g.33435222G>T | CA363682123 | SYNGAP1 | c.322G>T (p.Glu108Ter) c.580G>T (p.Glu194Ter) c.403G>T (p.Glu135Ter) c.535G>T (p.Glu179Ter) n.775G>T | dbSNP |
6 | g.33435223A>C | CA363682124 | SYNGAP1 | c.323A>C (p.Glu108Ala) c.581A>C (p.Glu194Ala) c.404A>C (p.Glu135Ala) c.536A>C (p.Glu179Ala) n.776A>C | |
6 | g.33435223A>G | CA363682125 | SYNGAP1 | c.323A>G (p.Glu108Gly) c.581A>G (p.Glu194Gly) c.404A>G (p.Glu135Gly) c.536A>G (p.Glu179Gly) n.776A>G | |
6 | g.33435223A>T | CA363682126 | SYNGAP1 | c.323A>T (p.Glu108Val) c.581A>T (p.Glu194Val) c.404A>T (p.Glu135Val) c.536A>T (p.Glu179Val) n.776A>T | |
6 | g.33435224G>A | CA3758529 | SYNGAP1 | c.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 |
6 | g.33435224G>C | CA363682127 | SYNGAP1 | c.324G>C (p.Glu108Asp) c.582G>C (p.Glu194Asp) c.405G>C (p.Glu135Asp) c.537G>C (p.Glu179Asp) n.777G>C | |
6 | g.33435224G= | CA1620011323 | SYNGAP1 | c.324G= (p.Glu108=) c.582G= (p.Glu194=) c.405G= (p.Glu135=) c.537G= (p.Glu179=) n.777G= | |
6 | g.33435224G>T | CA363682128 | SYNGAP1 | c.324G>T (p.Glu108Asp) c.582G>T (p.Glu194Asp) c.405G>T (p.Glu135Asp) c.537G>T (p.Glu179Asp) n.777G>T | |
6 | g.33435225G>A | CA363682129 | SYNGAP1 | c.325G>A (p.Ala109Thr) c.583G>A (p.Ala195Thr) c.406G>A (p.Ala136Thr) c.538G>A (p.Ala180Thr) n.778G>A | |
6 | g.33435225G>C | CA16044320 | SYNGAP1 | c.325G>C (p.Ala109Pro) c.583G>C (p.Ala195Pro) c.406G>C (p.Ala136Pro) c.538G>C (p.Ala180Pro) n.778G>C | ClinVar dbSNP |
6 | g.33435225G= | CA1620011324 | SYNGAP1 | c.325G= (p.Ala109=) c.583G= (p.Ala195=) c.406G= (p.Ala136=) c.538G= (p.Ala180=) n.778G= | |
6 | g.33435225G>T | CA363682131 | SYNGAP1 | c.325G>T (p.Ala109Ser) c.583G>T (p.Ala195Ser) c.406G>T (p.Ala136Ser) c.538G>T (p.Ala180Ser) n.778G>T | gnomAD v4 |
6 | g.33435226C>A | CA363682133 | SYNGAP1 | c.326C>A (p.Ala109Glu) c.584C>A (p.Ala195Glu) c.407C>A (p.Ala136Glu) c.539C>A (p.Ala180Glu) n.779C>A | |
6 | g.33435226C>G | CA363682134 | SYNGAP1 | c.326C>G (p.Ala109Gly) c.584C>G (p.Ala195Gly) c.407C>G (p.Ala136Gly) c.539C>G (p.Ala180Gly) n.779C>G | |
6 | g.33435226C>T | CA363682132 | SYNGAP1 | c.326C>T (p.Ala109Val) c.584C>T (p.Ala195Val) c.407C>T (p.Ala136Val) c.539C>T (p.Ala180Val) n.779C>T | |
6 | g.33435227A>C | CA450106959 | SYNGAP1 | c.327A>C (p.Ala109=) c.585A>C (p.Ala195=) c.408A>C (p.Ala136=) c.540A>C (p.Ala180=) n.780A>C | |
6 | g.33435227A>G | CA450106961 | SYNGAP1 | c.327A>G (p.Ala109=) c.585A>G (p.Ala195=) c.408A>G (p.Ala136=) c.540A>G (p.Ala180=) n.780A>G | ClinVar dbSNP |
6 | g.33435227A>T | CA450106962 | SYNGAP1 | c.327A>T (p.Ala109=) c.585A>T (p.Ala195=) c.408A>T (p.Ala136=) c.540A>T (p.Ala180=) n.780A>T | |
6 | g.33435228T>A | CA363682135 | SYNGAP1 | c.328T>A (p.Leu110Met) c.586T>A (p.Leu196Met) c.409T>A (p.Leu137Met) c.541T>A (p.Leu181Met) n.781T>A | |
6 | g.33435228T>C | CA209814 | SYNGAP1 | c.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 |
6 | g.33435228T>G | CA363682136 | SYNGAP1 | c.328T>G (p.Leu110Val) c.586T>G (p.Leu196Val) c.409T>G (p.Leu137Val) c.541T>G (p.Leu181Val) n.781T>G | |
6 | g.33435228T= | CA1620011325 | SYNGAP1 | c.328T= (p.Leu110=) c.586T= (p.Leu196=) c.409T= (p.Leu137=) c.541T= (p.Leu181=) n.781T= | |
6 | g.33435229T>A | CA363682137 | SYNGAP1 | c.329T>A (p.Leu110Ter) c.587T>A (p.Leu196Ter) c.410T>A (p.Leu137Ter) c.542T>A (p.Leu181Ter) n.782T>A | dbSNP |
6 | g.33435229T>C | CA363682138 | SYNGAP1 | c.329T>C (p.Leu110Ser) c.587T>C (p.Leu196Ser) c.410T>C (p.Leu137Ser) c.542T>C (p.Leu181Ser) n.782T>C | |
6 | g.33435229T>G | CA363682139 | SYNGAP1 | c.329T>G (p.Leu110Trp) c.587T>G (p.Leu196Trp) c.410T>G (p.Leu137Trp) c.542T>G (p.Leu181Trp) n.782T>G | |
6 | g.33435229T= | CA1620011326 | SYNGAP1 | c.329T= (p.Leu110=) c.587T= (p.Leu196=) c.410T= (p.Leu137=) c.542T= (p.Leu181=) n.782T= | |
6 | g.33435230G>A | CA3758530 | SYNGAP1 | c.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 |
6 | g.33435230G>C | CA363682140 | SYNGAP1 | c.330G>C (p.Leu110Phe) c.588G>C (p.Leu196Phe) c.411G>C (p.Leu137Phe) c.543G>C (p.Leu181Phe) n.783G>C | |
6 | g.33435230G= | CA1620011327 | SYNGAP1 | c.330G= (p.Leu110=) c.588G= (p.Leu196=) c.411G= (p.Leu137=) c.543G= (p.Leu181=) n.783G= | |
6 | g.33435230G>T | CA363682141 | SYNGAP1 | c.330G>T (p.Leu110Phe) c.588G>T (p.Leu196Phe) c.411G>T (p.Leu137Phe) c.543G>T (p.Leu181Phe) n.783G>T | |
6 | g.33435231G>A | CA363682142 | SYNGAP1 | c.331G>A (p.Glu111Lys) c.589G>A (p.Glu197Lys) c.412G>A (p.Glu138Lys) c.544G>A (p.Glu182Lys) n.784G>A | |
6 | g.33435231G>C | CA363682143 | SYNGAP1 | c.331G>C (p.Glu111Gln) c.589G>C (p.Glu197Gln) c.412G>C (p.Glu138Gln) c.544G>C (p.Glu182Gln) n.784G>C | |
6 | g.33435231G= | CA1620011328 | SYNGAP1 | c.331G= (p.Glu111=) c.589G= (p.Glu197=) c.412G= (p.Glu138=) c.544G= (p.Glu182=) n.784G= | |
6 | g.33435231G>T | CA363682144 | SYNGAP1 | c.331G>T (p.Glu111Ter) c.589G>T (p.Glu197Ter) c.412G>T (p.Glu138Ter) c.544G>T (p.Glu182Ter) n.784G>T | dbSNP |
6 | g.33435232A>C | CA363682145 | SYNGAP1 | c.332A>C (p.Glu111Ala) c.590A>C (p.Glu197Ala) c.413A>C (p.Glu138Ala) c.545A>C (p.Glu182Ala) n.785A>C | |
6 | g.33435232A>G | CA363682146 | SYNGAP1 | c.332A>G (p.Glu111Gly) c.590A>G (p.Glu197Gly) c.413A>G (p.Glu138Gly) c.545A>G (p.Glu182Gly) n.785A>G | |
6 | g.33435232A>T | CA363682147 | SYNGAP1 | c.332A>T (p.Glu111Val) c.590A>T (p.Glu197Val) c.413A>T (p.Glu138Val) c.545A>T (p.Glu182Val) n.785A>T | |
6 | g.33435233G>A | CA450106966 | SYNGAP1 | c.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 |
6 | g.33435233G>C | CA363682149 | SYNGAP1 | c.333G>C (p.Glu111Asp) c.591G>C (p.Glu197Asp) c.414G>C (p.Glu138Asp) c.546G>C (p.Glu182Asp) n.786G>C | |
6 | g.33435233G= | CA1620011329 | SYNGAP1 | c.333G= (p.Glu111=) c.591G= (p.Glu197=) c.414G= (p.Glu138=) c.546G= (p.Glu182=) n.786G= | |
6 | g.33435233G>T | CA363682148 | SYNGAP1 | c.333G>T (p.Glu111Asp) c.591G>T (p.Glu197Asp) c.414G>T (p.Glu138Asp) c.546G>T (p.Glu182Asp) n.786G>T |