Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33432657_33432672delCA2678270171SYNGAP1c.130-28_130-13del (n.130-28_130-13del)
c.388-28_388-13del (n.388-28_388-13del)
c.211-28_211-13del (n.211-28_211-13del)
c.343-28_343-13del (n.343-28_343-13del)
n.583-28_583-13del
 gnomAD v4
6g.33432656_33432675delCA2678270291SYNGAP1c.130-29_130-10del (n.130-29_130-10del)
c.388-29_388-10del (n.388-29_388-10del)
c.211-29_211-10del (n.211-29_211-10del)
c.343-29_343-10del (n.343-29_343-10del)
n.583-29_583-10del
 gnomAD v4
6g.33432661_33432677delCA2678270601SYNGAP1c.130-24_130-8del (n.130-24_130-8del)
c.388-24_388-8del (n.388-24_388-8del)
c.211-24_211-8del (n.211-24_211-8del)
c.343-24_343-8del (n.343-24_343-8del)
n.583-24_583-8del
 gnomAD v4
6g.33432661_33432676delCA2678270629SYNGAP1c.130-24_130-9del (n.130-24_130-9del)
c.388-24_388-9del (n.388-24_388-9del)
c.211-24_211-9del (n.211-24_211-9del)
c.343-24_343-9del (n.343-24_343-9del)
n.583-24_583-9del
 gnomAD v4
6g.33432661_33432675delCA2678270645SYNGAP1c.130-24_130-10del (n.130-24_130-10del)
c.388-24_388-10del (n.388-24_388-10del)
c.211-24_211-10del (n.211-24_211-10del)
c.343-24_343-10del (n.343-24_343-10del)
n.583-24_583-10del
 gnomAD v4
6g.33432668_33432673delCA2678270668SYNGAP1c.130-17_130-12del (n.130-17_130-12del)
c.388-17_388-12del (n.388-17_388-12del)
c.211-17_211-12del (n.211-17_211-12del)
c.343-17_343-12del (n.343-17_343-12del)
n.583-17_583-12del
 gnomAD v4
6g.33432666_33432678delCA2678270694SYNGAP1c.130-19_130-7del (n.130-19_130-7del)
c.388-19_388-7del (n.388-19_388-7del)
c.211-19_211-7del (n.211-19_211-7del)
c.343-19_343-7del (n.343-19_343-7del)
n.583-19_583-7del
 gnomAD v4
6g.33432666_33432677delCA1087666440SYNGAP1c.130-19_130-8del (n.130-19_130-8del)
c.388-19_388-8del (n.388-19_388-8del)
c.211-19_211-8del (n.211-19_211-8del)
c.343-19_343-8del (n.343-19_343-8del)
n.583-19_583-8del
 dbSNP gnomAD v3 gnomAD v4
6g.33432666_33432676delCA2678270704SYNGAP1c.130-19_130-9del (n.130-19_130-9del)
c.388-19_388-9del (n.388-19_388-9del)
c.211-19_211-9del (n.211-19_211-9del)
c.343-19_343-9del (n.343-19_343-9del)
n.583-19_583-9del
 gnomAD v4
6g.33432666_33432675delCA1087666455SYNGAP1c.130-19_130-10del (n.130-19_130-10del)
c.388-19_388-10del (n.388-19_388-10del)
c.211-19_211-10del (n.211-19_211-10del)
c.343-19_343-10del (n.343-19_343-10del)
n.583-19_583-10del
 gnomAD v3 gnomAD v4
6g.33432672_33432678delCA2678270818SYNGAP1c.130-13_130-7del (n.130-13_130-7del)
c.388-13_388-7del (n.388-13_388-7del)
c.211-13_211-7del (n.211-13_211-7del)
c.343-13_343-7del (n.343-13_343-7del)
n.583-13_583-7del
 gnomAD v4
6g.33432670_33432675delinsCCATTTCA1620010151SYNGAP1c.130-15_130-10delinsCCATTT (n.130-15_130-10delinsCCATTT)
c.388-15_388-10delinsCCATTT (n.388-15_388-10delinsCCATTT)
c.211-15_211-10delinsCCATTT (n.211-15_211-10delinsCCATTT)
c.343-15_343-10delinsCCATTT (n.343-15_343-10delinsCCATTT)
n.583-15_583-10delinsCCATTT
6g.33432672_33432677delCA2678270834SYNGAP1c.130-13_130-8del (n.130-13_130-8del)
c.388-13_388-8del (n.388-13_388-8del)
c.211-13_211-8del (n.211-13_211-8del)
c.343-13_343-8del (n.343-13_343-8del)
n.583-13_583-8del
 gnomAD v4
6g.33432671_33432672delCA2678270838SYNGAP1c.130-14_130-13del (n.130-14_130-13del)
c.388-14_388-13del (n.388-14_388-13del)
c.211-14_211-13del (n.211-14_211-13del)
c.343-14_343-13del (n.343-14_343-13del)
n.583-14_583-13del
 gnomAD v4
6g.33432672_33432676delCA566430737SYNGAP1c.130-13_130-9del (n.130-13_130-9del)
c.388-13_388-9del (n.388-13_388-9del)
c.211-13_211-9del (n.211-13_211-9del)
c.343-13_343-9del (n.343-13_343-9del)
n.583-13_583-9del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432672A=CA1620010152SYNGAP1c.130-13A= (n.130-13A=)
c.388-13A= (n.388-13A=)
c.211-13A= (n.211-13A=)
c.343-13A= (n.343-13A=)
n.583-13A=
6g.33432672A>CCA566430741SYNGAP1c.130-13A>C (n.130-13A>C)
c.388-13A>C (n.388-13A>C)
c.211-13A>C (n.211-13A>C)
c.343-13A>C (n.343-13A>C)
n.583-13A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432672A>GCA566430740SYNGAP1c.130-13A>G (n.130-13A>G)
c.388-13A>G (n.388-13A>G)
c.211-13A>G (n.211-13A>G)
c.343-13A>G (n.343-13A>G)
n.583-13A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33432672A>TCA566430739SYNGAP1c.130-13A>T (n.130-13A>T)
c.388-13A>T (n.388-13A>T)
c.211-13A>T (n.211-13A>T)
c.343-13A>T (n.343-13A>T)
n.583-13A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432672dupCA2678270852SYNGAP1c.130-13dup (n.130-13dup)
c.388-13dup (n.388-13dup)
c.211-13dup (n.211-13dup)
c.343-13dup (n.343-13dup)
n.583-13dup
 gnomAD v4
6g.33432672_33432673delCA2678270848SYNGAP1c.130-13_130-12del (n.130-13_130-12del)
c.388-13_388-12del (n.388-13_388-12del)
c.211-13_211-12del (n.211-13_211-12del)
c.343-13_343-12del (n.343-13_343-12del)
n.583-13_583-12del
 gnomAD v4
6g.33432672_33432673delinsATCA1620010153SYNGAP1c.130-13_130-12delinsAT (n.130-13_130-12delinsAT)
c.388-13_388-12delinsAT (n.388-13_388-12delinsAT)
c.211-13_211-12delinsAT (n.211-13_211-12delinsAT)
c.343-13_343-12delinsAT (n.343-13_343-12delinsAT)
n.583-13_583-12delinsAT
6g.33432672_33432674delCA1087666504SYNGAP1c.130-13_130-11del (n.130-13_130-11del)
c.388-13_388-11del (n.388-13_388-11del)
c.211-13_211-11del (n.211-13_211-11del)
c.343-13_343-11del (n.343-13_343-11del)
n.583-13_583-11del
 gnomAD v3 gnomAD v4
6g.33432672_33432675delCA566430738SYNGAP1c.130-13_130-10del (n.130-13_130-10del)
c.388-13_388-10del (n.388-13_388-10del)
c.211-13_211-10del (n.211-13_211-10del)
c.343-13_343-10del (n.343-13_343-10del)
n.583-13_583-10del
 gnomAD v2 gnomAD v3 gnomAD v4
6g.33432673T>ACA566430744SYNGAP1c.130-12T>A (n.130-12T>A)
c.388-12T>A (n.388-12T>A)
c.211-12T>A (n.211-12T>A)
c.343-12T>A (n.343-12T>A)
n.583-12T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432673T>CCA566430745SYNGAP1c.130-12T>C (n.130-12T>C)
c.388-12T>C (n.388-12T>C)
c.211-12T>C (n.211-12T>C)
c.343-12T>C (n.343-12T>C)
n.583-12T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432673T>GCA2678270864SYNGAP1c.130-12T>G (n.130-12T>G)
c.388-12T>G (n.388-12T>G)
c.211-12T>G (n.211-12T>G)
c.343-12T>G (n.343-12T>G)
n.583-12T>G
 gnomAD v4
6g.33432673T=CA1620010154SYNGAP1c.130-12T= (n.130-12T=)
c.388-12T= (n.388-12T=)
c.211-12T= (n.211-12T=)
c.343-12T= (n.343-12T=)
n.583-12T=
6g.33432673_33432675delCA2678270867SYNGAP1c.130-12_130-10del (n.130-12_130-10del)
c.388-12_388-10del (n.388-12_388-10del)
c.211-12_211-10del (n.211-12_211-10del)
c.343-12_343-10del (n.343-12_343-10del)
n.583-12_583-10del
 gnomAD v4
6g.33432675dupCA566430743SYNGAP1c.130-10dup (n.130-10dup)
c.388-10dup (n.388-10dup)
c.211-10dup (n.211-10dup)
c.343-10dup (n.343-10dup)
n.583-10dup
 gnomAD v2 gnomAD v4
6g.33432675delCA1087666513SYNGAP1c.130-10del (n.130-10del)
c.388-10del (n.388-10del)
c.211-10del (n.211-10del)
c.343-10del (n.343-10del)
n.583-10del
 dbSNP gnomAD v3 gnomAD v4
6g.33432674_33432675delCA2678270870SYNGAP1c.130-11_130-10del (n.130-11_130-10del)
c.388-11_388-10del (n.388-11_388-10del)
c.211-11_211-10del (n.211-11_211-10del)
c.343-11_343-10del (n.343-11_343-10del)
n.583-11_583-10del
 gnomAD v4
6g.33432673_33432678delCA2678270868SYNGAP1c.130-12_130-7del (n.130-12_130-7del)
c.388-12_388-7del (n.388-12_388-7del)
c.211-12_211-7del (n.211-12_211-7del)
c.343-12_343-7del (n.343-12_343-7del)
n.583-12_583-7del
 gnomAD v4
6g.33432674T>ACA3758486SYNGAP1c.130-11T>A (n.130-11T>A)
c.388-11T>A (n.388-11T>A)
c.211-11T>A (n.211-11T>A)
c.343-11T>A (n.343-11T>A)
n.583-11T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33432674T>CCA3758487SYNGAP1c.130-11T>C (n.130-11T>C)
c.388-11T>C (n.388-11T>C)
c.211-11T>C (n.211-11T>C)
c.343-11T>C (n.343-11T>C)
n.583-11T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33432674T>GCA1620010156SYNGAP1c.130-11T>G (n.130-11T>G)
c.388-11T>G (n.388-11T>G)
c.211-11T>G (n.211-11T>G)
c.343-11T>G (n.343-11T>G)
n.583-11T>G
 ClinVar dbSNP gnomAD v4
6g.33432674T=CA1620010155SYNGAP1c.130-11T= (n.130-11T=)
c.388-11T= (n.388-11T=)
c.211-11T= (n.211-11T=)
c.343-11T= (n.343-11T=)
n.583-11T=
6g.33432674_33432675insAACA2678270878SYNGAP1c.130-11_130-10insAA (n.130-11_130-10insAA)
c.388-11_388-10insAA (n.388-11_388-10insAA)
c.211-11_211-10insAA (n.211-11_211-10insAA)
c.343-11_343-10insAA (n.343-11_343-10insAA)
n.583-11_583-10insAA
 gnomAD v4
6g.33432674_33432675insCCCA2770571964SYNGAP1c.130-11_130-10insCC (n.130-11_130-10insCC)
c.388-11_388-10insCC (n.388-11_388-10insCC)
c.211-11_211-10insCC (n.211-11_211-10insCC)
c.343-11_343-10insCC (n.343-11_343-10insCC)
n.583-11_583-10insCC
6g.33432674_33432675insACCCA2678270890SYNGAP1c.130-11_130-10insACC (n.130-11_130-10insACC)
c.388-11_388-10insACC (n.388-11_388-10insACC)
c.211-11_211-10insACC (n.211-11_211-10insACC)
c.343-11_343-10insACC (n.343-11_343-10insACC)
n.583-11_583-10insACC
 gnomAD v4
6g.33432674_33432675insCCCCA2678270886SYNGAP1c.130-11_130-10insCCC (n.130-11_130-10insCCC)
c.388-11_388-10insCCC (n.388-11_388-10insCCC)
c.211-11_211-10insCCC (n.211-11_211-10insCCC)
c.343-11_343-10insCCC (n.343-11_343-10insCCC)
n.583-11_583-10insCCC
 gnomAD v4
6g.33432674_33432675insGACCA2678270884SYNGAP1c.130-11_130-10insGAC (n.130-11_130-10insGAC)
c.388-11_388-10insGAC (n.388-11_388-10insGAC)
c.211-11_211-10insGAC (n.211-11_211-10insGAC)
c.343-11_343-10insGAC (n.343-11_343-10insGAC)
n.583-11_583-10insGAC
 gnomAD v4
6g.33432674_33432675insGCCCA2678270883SYNGAP1c.130-11_130-10insGCC (n.130-11_130-10insGCC)
c.388-11_388-10insGCC (n.388-11_388-10insGCC)
c.211-11_211-10insGCC (n.211-11_211-10insGCC)
c.343-11_343-10insGCC (n.343-11_343-10insGCC)
n.583-11_583-10insGCC
 gnomAD v4
6g.33432674_33432675insAACCCA2678270891SYNGAP1c.130-11_130-10insAACC (n.130-11_130-10insAACC)
c.388-11_388-10insAACC (n.388-11_388-10insAACC)
c.211-11_211-10insAACC (n.211-11_211-10insAACC)
c.343-11_343-10insAACC (n.343-11_343-10insAACC)
n.583-11_583-10insAACC
 gnomAD v4
6g.33432674_33432675insACCCCA2678270889SYNGAP1c.130-11_130-10insACCC (n.130-11_130-10insACCC)
c.388-11_388-10insACCC (n.388-11_388-10insACCC)
c.211-11_211-10insACCC (n.211-11_211-10insACCC)
c.343-11_343-10insACCC (n.343-11_343-10insACCC)
n.583-11_583-10insACCC
 gnomAD v4
6g.33432674_33432675insGCCCCA2678270882SYNGAP1c.130-11_130-10insGCCC (n.130-11_130-10insGCCC)
c.388-11_388-10insGCCC (n.388-11_388-10insGCCC)
c.211-11_211-10insGCCC (n.211-11_211-10insGCCC)
c.343-11_343-10insGCCC (n.343-11_343-10insGCCC)
n.583-11_583-10insGCCC
 gnomAD v4
6g.33432674_33432675insGCCCCCCCCCCCCCCA2678270881SYNGAP1c.130-11_130-10insGCCCCCCCCCCCCC (n.130-11_130-10insGCCCCCCCCCCCCC)
c.388-11_388-10insGCCCCCCCCCCCCC (n.388-11_388-10insGCCCCCCCCCCCCC)
c.211-11_211-10insGCCCCCCCCCCCCC (n.211-11_211-10insGCCCCCCCCCCCCC)
c.343-11_343-10insGCCCCCCCCCCCCC (n.343-11_343-10insGCCCCCCCCCCCCC)
n.583-11_583-10insGCCCCCCCCCCCCC
 gnomAD v4
6g.33432675T>ACA1620010158SYNGAP1c.130-10T>A (n.130-10T>A)
c.388-10T>A (n.388-10T>A)
c.211-10T>A (n.211-10T>A)
c.343-10T>A (n.343-10T>A)
n.583-10T>A
 dbSNP gnomAD v3 gnomAD v4
6g.33432675T>CCA566430746SYNGAP1c.130-10T>C (n.130-10T>C)
c.388-10T>C (n.388-10T>C)
c.211-10T>C (n.211-10T>C)
c.343-10T>C (n.343-10T>C)
n.583-10T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432675T>GCA2678270879SYNGAP1c.130-10T>G (n.130-10T>G)
c.388-10T>G (n.388-10T>G)
c.211-10T>G (n.211-10T>G)
c.343-10T>G (n.343-10T>G)
n.583-10T>G
 gnomAD v4
6g.33432675T=CA1620010159SYNGAP1c.130-10T= (n.130-10T=)
c.388-10T= (n.388-10T=)
c.211-10T= (n.211-10T=)
c.343-10T= (n.343-10T=)
n.583-10T=
6g.33432675_33432676delinsTCCA1620010157SYNGAP1c.130-10_130-9delinsTC (n.130-10_130-9delinsTC)
c.388-10_388-9delinsTC (n.388-10_388-9delinsTC)
c.211-10_211-9delinsTC (n.211-10_211-9delinsTC)
c.343-10_343-9delinsTC (n.343-10_343-9delinsTC)
n.583-10_583-9delinsTC
6g.33432675_33432676insACCA2678270919SYNGAP1c.130-10_130-9insAC (n.130-10_130-9insAC)
c.388-10_388-9insAC (n.388-10_388-9insAC)
c.211-10_211-9insAC (n.211-10_211-9insAC)
c.343-10_343-9insAC (n.343-10_343-9insAC)
n.583-10_583-9insAC
 gnomAD v4
6g.33432675_33432676insTCCA2678270912SYNGAP1c.130-10_130-9insTC (n.130-10_130-9insTC)
c.388-10_388-9insTC (n.388-10_388-9insTC)
c.211-10_211-9insTC (n.211-10_211-9insTC)
c.343-10_343-9insTC (n.343-10_343-9insTC)
n.583-10_583-9insTC
 gnomAD v4
6g.33432675_33432676insACCCA2678270917SYNGAP1c.130-10_130-9insACC (n.130-10_130-9insACC)
c.388-10_388-9insACC (n.388-10_388-9insACC)
c.211-10_211-9insACC (n.211-10_211-9insACC)
c.343-10_343-9insACC (n.343-10_343-9insACC)
n.583-10_583-9insACC
 gnomAD v4
6g.33432675_33432676insTCCCA2678270910SYNGAP1c.130-10_130-9insTCC (n.130-10_130-9insTCC)
c.388-10_388-9insTCC (n.388-10_388-9insTCC)
c.211-10_211-9insTCC (n.211-10_211-9insTCC)
c.343-10_343-9insTCC (n.343-10_343-9insTCC)
n.583-10_583-9insTCC
 gnomAD v4
6g.33432675_33432676insACCCCA2678270916SYNGAP1c.130-10_130-9insACCC (n.130-10_130-9insACCC)
c.388-10_388-9insACCC (n.388-10_388-9insACCC)
c.211-10_211-9insACCC (n.211-10_211-9insACCC)
c.343-10_343-9insACCC (n.343-10_343-9insACCC)
n.583-10_583-9insACCC
 gnomAD v4
6g.33432675_33432676insAACCCCA2770571970SYNGAP1c.130-10_130-9insAACCC (n.130-10_130-9insAACCC)
c.388-10_388-9insAACCC (n.388-10_388-9insAACCC)
c.211-10_211-9insAACCC (n.211-10_211-9insAACCC)
c.343-10_343-9insAACCC (n.343-10_343-9insAACCC)
n.583-10_583-9insAACCC
6g.33432676C>ACA3758490SYNGAP1c.130-9C>A (n.130-9C>A)
c.388-9C>A (n.388-9C>A)
c.211-9C>A (n.211-9C>A)
c.343-9C>A (n.343-9C>A)
n.583-9C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33432676C=CA1620010160SYNGAP1c.130-9C= (n.130-9C=)
c.388-9C= (n.388-9C=)
c.211-9C= (n.211-9C=)
c.343-9C= (n.343-9C=)
n.583-9C=
6g.33432676C>GCA2678270903SYNGAP1c.130-9C>G (n.130-9C>G)
c.388-9C>G (n.388-9C>G)
c.211-9C>G (n.211-9C>G)
c.343-9C>G (n.343-9C>G)
n.583-9C>G
 gnomAD v4
6g.33432676C>TCA566430748SYNGAP1c.130-9C>T (n.130-9C>T)
c.388-9C>T (n.388-9C>T)
c.211-9C>T (n.211-9C>T)
c.343-9C>T (n.343-9C>T)
n.583-9C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432682dupCA3758488SYNGAP1c.130-3dup (n.130-3dup)
c.388-3dup (n.388-3dup)
c.211-3dup (n.211-3dup)
c.343-3dup (n.343-3dup)
n.583-3dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33432681_33432682dupCA566430747SYNGAP1c.130-4_130-3dup (n.130-4_130-3dup)
c.388-4_388-3dup (n.388-4_388-3dup)
c.211-4_211-3dup (n.211-4_211-3dup)
c.343-4_343-3dup (n.343-4_343-3dup)
n.583-4_583-3dup
 gnomAD v2 gnomAD v3 gnomAD v4
6g.33432680_33432682dupCA2678270914SYNGAP1c.130-5_130-3dup (n.130-5_130-3dup)
c.388-5_388-3dup (n.388-5_388-3dup)
c.211-5_211-3dup (n.211-5_211-3dup)
c.343-5_343-3dup (n.343-5_343-3dup)
n.583-5_583-3dup
 gnomAD v4
6g.33432679_33432682dupCA2678270913SYNGAP1c.130-6_130-3dup (n.130-6_130-3dup)
c.388-6_388-3dup (n.388-6_388-3dup)
c.211-6_211-3dup (n.211-6_211-3dup)
c.343-6_343-3dup (n.343-6_343-3dup)
n.583-6_583-3dup
 gnomAD v4
6g.33432682delCA3758489SYNGAP1c.130-3del (n.130-3del)
c.388-3del (n.388-3del)
c.211-3del (n.211-3del)
c.343-3del (n.343-3del)
n.583-3del
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33432677C=CA1620010161SYNGAP1c.130-8C= (n.130-8C=)
c.388-8C= (n.388-8C=)
c.211-8C= (n.211-8C=)
c.343-8C= (n.343-8C=)
n.583-8C=
6g.33432677C>TCA566430749SYNGAP1c.130-8C>T (n.130-8C>T)
c.388-8C>T (n.388-8C>T)
c.211-8C>T (n.211-8C>T)
c.343-8C>T (n.343-8C>T)
n.583-8C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432678C>ACA2678270926SYNGAP1c.130-7C>A (n.130-7C>A)
c.388-7C>A (n.388-7C>A)
c.211-7C>A (n.211-7C>A)
c.343-7C>A (n.343-7C>A)
n.583-7C>A
 gnomAD v4
6g.33432679C=CA1620010162SYNGAP1c.130-6C= (n.130-6C=)
c.388-6C= (n.388-6C=)
c.211-6C= (n.211-6C=)
c.343-6C= (n.343-6C=)
n.583-6C=
6g.33432680C>ACA566430750SYNGAP1c.130-5C>A (n.130-5C>A)
c.388-5C>A (n.388-5C>A)
c.211-5C>A (n.211-5C>A)
c.343-5C>A (n.343-5C>A)
n.583-5C>A
 dbSNP gnomAD v2 gnomAD v4
6g.33432680C=CA1620010165SYNGAP1c.130-5C= (n.130-5C=)
c.388-5C= (n.388-5C=)
c.211-5C= (n.211-5C=)
c.343-5C= (n.343-5C=)
n.583-5C=
6g.33432680C>GCA1620010164SYNGAP1c.130-5C>G (n.130-5C>G)
c.388-5C>G (n.388-5C>G)
c.211-5C>G (n.211-5C>G)
c.343-5C>G (n.343-5C>G)
n.583-5C>G
 dbSNP gnomAD v4
6g.33432680C>TCA2678270928SYNGAP1c.130-5C>T (n.130-5C>T)
c.388-5C>T (n.388-5C>T)
c.211-5C>T (n.211-5C>T)
c.343-5C>T (n.343-5C>T)
n.583-5C>T
 gnomAD v4
6g.33432680_33432683dupCA1620010163SYNGAP1c.130-5_130-2dup (n.130-5_130-2dup)
c.388-5_388-2dup (n.388-5_388-2dup)
c.211-5_211-2dup (n.211-5_211-2dup)
c.343-5_343-2dup (n.343-5_343-2dup)
n.583-5_583-2dup
 dbSNP
6g.33432681C>ACA2578585356SYNGAP1c.130-4C>A (n.130-4C>A)
c.388-4C>A (n.388-4C>A)
c.211-4C>A (n.211-4C>A)
c.343-4C>A (n.343-4C>A)
n.583-4C>A
 ClinVar gnomAD v4
6g.33432681C=CA1620010166SYNGAP1c.130-4C= (n.130-4C=)
c.388-4C= (n.388-4C=)
c.211-4C= (n.211-4C=)
c.343-4C= (n.343-4C=)
n.583-4C=
6g.33432681C>GCA566430751SYNGAP1c.130-4C>G (n.130-4C>G)
c.388-4C>G (n.388-4C>G)
c.211-4C>G (n.211-4C>G)
c.343-4C>G (n.343-4C>G)
n.583-4C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432681C>TCA566430752SYNGAP1c.130-4C>T (n.130-4C>T)
c.388-4C>T (n.388-4C>T)
c.211-4C>T (n.211-4C>T)
c.343-4C>T (n.343-4C>T)
n.583-4C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33432682_33432683insCCCCCCCCCCCCTTCCCCTCCCA2678270933SYNGAP1c.130-3_130-2insCCCCCCCCCCCCTTCCCCTCC (n.130-3_130-2insCCCCCCCCCCCCTTCCCCTCC)
c.388-3_388-2insCCCCCCCCCCCCTTCCCCTCC (n.388-3_388-2insCCCCCCCCCCCCTTCCCCTCC)
c.211-3_211-2insCCCCCCCCCCCCTTCCCCTCC (n.211-3_211-2insCCCCCCCCCCCCTTCCCCTCC)
c.343-3_343-2insCCCCCCCCCCCCTTCCCCTCC (n.343-3_343-2insCCCCCCCCCCCCTTCCCCTCC)
n.583-3_583-2insCCCCCCCCCCCCTTCCCCTCC
 gnomAD v4
6g.33432682C>ACA566430754SYNGAP1c.130-3C>A (n.130-3C>A)
c.388-3C>A (n.388-3C>A)
c.211-3C>A (n.211-3C>A)
c.343-3C>A (n.343-3C>A)
n.583-3C>A
 dbSNP gnomAD v2 gnomAD v4
6g.33432682C=CA1620010167SYNGAP1c.130-3C= (n.130-3C=)
c.388-3C= (n.388-3C=)
c.211-3C= (n.211-3C=)
c.343-3C= (n.343-3C=)
n.583-3C=
6g.33432682C>GCA915944228SYNGAP1c.130-3C>G (n.130-3C>G)
c.388-3C>G (n.388-3C>G)
c.211-3C>G (n.211-3C>G)
c.343-3C>G (n.343-3C>G)
n.583-3C>G
 ClinVar dbSNP
6g.33432684_33432686delCA2678270945SYNGAP1c.130-1_131del
c.388-1_389del
c.211-1_212del
c.343-1_344del
n.583-1_584del
 gnomAD v4
6g.33432682_33432683insTCCTCA2549991924SYNGAP1c.130-3_130-2insTCCT (n.130-3_130-2insTCCT)
c.388-3_388-2insTCCT (n.388-3_388-2insTCCT)
c.211-3_211-2insTCCT (n.211-3_211-2insTCCT)
c.343-3_343-2insTCCT (n.343-3_343-2insTCCT)
n.583-3_583-2insTCCT
6g.33432683delCA1087666535SYNGAP1c.130-2del (n.130-2del)
c.388-2del (n.388-2del)
c.211-2del (n.211-2del)
c.343-2del (n.343-2del)
n.583-2del
 ClinVar gnomAD v3 gnomAD v4
6g.33432683A=CA1620010168SYNGAP1c.130-2A= (n.130-2A=)
c.388-2A= (n.388-2A=)
c.211-2A= (n.211-2A=)
c.343-2A= (n.343-2A=)
n.583-2A=
6g.33432683A>CCA363680395SYNGAP1c.130-2A>C (n.130-2A>C)
c.388-2A>C (n.388-2A>C)
c.211-2A>C (n.211-2A>C)
c.343-2A>C (n.343-2A>C)
n.583-2A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432683A>GCA204471SYNGAP1c.130-2A>G (n.130-2A>G)
c.388-2A>G (n.388-2A>G)
c.211-2A>G (n.211-2A>G)
c.343-2A>G (n.343-2A>G)
n.583-2A>G
 ClinVar dbSNP
6g.33432683A>TCA363680397SYNGAP1c.130-2A>T (n.130-2A>T)
c.388-2A>T (n.388-2A>T)
c.211-2A>T (n.211-2A>T)
c.343-2A>T (n.343-2A>T)
n.583-2A>T
6g.33432683dupCA2678270953SYNGAP1c.130-2dup (n.130-2dup)
c.388-2dup (n.388-2dup)
c.211-2dup (n.211-2dup)
c.343-2dup (n.343-2dup)
n.583-2dup
 gnomAD v4
6g.33432683_33432684delCA2678270956SYNGAP1c.130-2_130-1del (n.130-2_130-1del)
c.388-2_388-1del (n.388-2_388-1del)
c.211-2_211-1del (n.211-2_211-1del)
c.343-2_343-1del (n.343-2_343-1del)
n.583-2_583-1del
 gnomAD v4
6g.33432684delCA2678270962SYNGAP1c.130-1del (n.130-1del)
c.388-1del (n.388-1del)
c.211-1del (n.211-1del)
c.343-1del (n.343-1del)
n.583-1del
 gnomAD v4
6g.33432684G>ACA363680399SYNGAP1c.130-1G>A (n.130-1G>A)
c.388-1G>A (n.388-1G>A)
c.211-1G>A (n.211-1G>A)
c.343-1G>A (n.343-1G>A)
n.583-1G>A
 gnomAD v3 gnomAD v4
6g.33432684G>CCA363680402SYNGAP1c.130-1G>C (n.130-1G>C)
c.388-1G>C (n.388-1G>C)
c.211-1G>C (n.211-1G>C)
c.343-1G>C (n.343-1G>C)
n.583-1G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432684G=CA1620010169SYNGAP1c.130-1G= (n.130-1G=)
c.388-1G= (n.388-1G=)
c.211-1G= (n.211-1G=)
c.343-1G= (n.343-1G=)
n.583-1G=
6g.33432684G>TCA363680400SYNGAP1c.130-1G>T (n.130-1G>T)
c.388-1G>T (n.388-1G>T)
c.211-1G>T (n.211-1G>T)
c.343-1G>T (n.343-1G>T)
n.583-1G>T
6g.33432685C>ACA363680404SYNGAP1c.130C>A (p.Gln44Lys)
c.388C>A (p.Gln130Lys)
c.211C>A (p.Gln71Lys)
c.343C>A (p.Gln115Lys)
n.583C>A
6g.33432685C=CA1620010170SYNGAP1c.130C= (p.Gln44=)
c.388C= (p.Gln130=)
c.211C= (p.Gln71=)
c.343C= (p.Gln115=)
n.583C=
6g.33432685C>GCA363680406SYNGAP1c.130C>G (p.Gln44Glu)
c.388C>G (p.Gln130Glu)
c.211C>G (p.Gln71Glu)
c.343C>G (p.Gln115Glu)
n.583C>G
 dbSNP gnomAD v3 gnomAD v4
6g.33432685C>TCA363680407SYNGAP1c.130C>T (p.Gln44Ter)
c.388C>T (p.Gln130Ter)
c.211C>T (p.Gln71Ter)
c.343C>T (p.Gln115Ter)
n.583C>T
 ClinVar dbSNP
6g.33432686A>CCA363680410SYNGAP1c.131A>C (p.Gln44Pro)
c.389A>C (p.Gln130Pro)
c.212A>C (p.Gln71Pro)
c.344A>C (p.Gln115Pro)
n.584A>C
6g.33432686A>GCA363680411SYNGAP1c.131A>G (p.Gln44Arg)
c.389A>G (p.Gln130Arg)
c.212A>G (p.Gln71Arg)
c.344A>G (p.Gln115Arg)
n.584A>G
6g.33432686A>TCA363680413SYNGAP1c.131A>T (p.Gln44Leu)
c.389A>T (p.Gln130Leu)
c.212A>T (p.Gln71Leu)
c.344A>T (p.Gln115Leu)
n.584A>T
6g.33432687A=CA1620010171SYNGAP1c.132A= (p.Gln44=)
c.390A= (p.Gln130=)
c.213A= (p.Gln71=)
c.345A= (p.Gln115=)
n.585A=
6g.33432687A>CCA363680416SYNGAP1c.132A>C (p.Gln44His)
c.390A>C (p.Gln130His)
c.213A>C (p.Gln71His)
c.345A>C (p.Gln115His)
n.585A>C
6g.33432687A>GCA449860139SYNGAP1c.132A>G (p.Gln44=)
c.390A>G (p.Gln130=)
c.213A>G (p.Gln71=)
c.345A>G (p.Gln115=)
n.585A>G
 dbSNP gnomAD v4
6g.33432687A>TCA363680417SYNGAP1c.132A>T (p.Gln44His)
c.390A>T (p.Gln130His)
c.213A>T (p.Gln71His)
c.345A>T (p.Gln115His)
n.585A>T
6g.33432688G>ACA363680421SYNGAP1c.133G>A (p.Gly45Ser)
c.391G>A (p.Gly131Ser)
c.214G>A (p.Gly72Ser)
c.346G>A (p.Gly116Ser)
n.586G>A
6g.33432688G>CCA363680422SYNGAP1c.133G>C (p.Gly45Arg)
c.391G>C (p.Gly131Arg)
c.214G>C (p.Gly72Arg)
c.346G>C (p.Gly116Arg)
n.586G>C
 ClinVar
6g.33432688G>TCA363680423SYNGAP1c.133G>T (p.Gly45Cys)
c.391G>T (p.Gly131Cys)
c.214G>T (p.Gly72Cys)
c.346G>T (p.Gly116Cys)
n.586G>T
6g.33432689G>ACA363680429SYNGAP1c.134G>A (p.Gly45Asp)
c.392G>A (p.Gly131Asp)
c.215G>A (p.Gly72Asp)
c.347G>A (p.Gly116Asp)
n.587G>A
6g.33432689G>CCA363680428SYNGAP1c.134G>C (p.Gly45Ala)
c.392G>C (p.Gly131Ala)
c.215G>C (p.Gly72Ala)
c.347G>C (p.Gly116Ala)
n.587G>C
6g.33432689G>TCA363680426SYNGAP1c.134G>T (p.Gly45Val)
c.392G>T (p.Gly131Val)
c.215G>T (p.Gly72Val)
c.347G>T (p.Gly116Val)
n.587G>T
6g.33432690C>ACA449860159SYNGAP1c.135C>A (p.Gly45=)
c.393C>A (p.Gly131=)
c.216C>A (p.Gly72=)
c.348C>A (p.Gly116=)
n.588C>A
 gnomAD v4
6g.33432690C=CA1620010172SYNGAP1c.135C= (p.Gly45=)
c.393C= (p.Gly131=)
c.216C= (p.Gly72=)
c.348C= (p.Gly116=)
n.588C=
6g.33432690C>GCA449860162SYNGAP1c.135C>G (p.Gly45=)
c.393C>G (p.Gly131=)
c.216C>G (p.Gly72=)
c.348C>G (p.Gly116=)
n.588C>G
6g.33432690C>TCA3758491SYNGAP1c.135C>T (p.Gly45=)
c.393C>T (p.Gly131=)
c.216C>T (p.Gly72=)
c.348C>T (p.Gly116=)
n.588C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33432691T>ACA363680433SYNGAP1c.136T>A (p.Phe46Ile)
c.394T>A (p.Phe132Ile)
c.217T>A (p.Phe73Ile)
c.349T>A (p.Phe117Ile)
n.589T>A
6g.33432691T>CCA363680434SYNGAP1c.136T>C (p.Phe46Leu)
c.394T>C (p.Phe132Leu)
c.217T>C (p.Phe73Leu)
c.349T>C (p.Phe117Leu)
n.589T>C
 gnomAD v3 gnomAD v4
6g.33432691T>GCA363680435SYNGAP1c.136T>G (p.Phe46Val)
c.394T>G (p.Phe132Val)
c.217T>G (p.Phe73Val)
c.349T>G (p.Phe117Val)
n.589T>G
6g.33432692T>ACA363680437SYNGAP1c.137T>A (p.Phe46Tyr)
c.395T>A (p.Phe132Tyr)
c.218T>A (p.Phe73Tyr)
c.350T>A (p.Phe117Tyr)
n.590T>A
6g.33432692T>CCA363680439SYNGAP1c.137T>C (p.Phe46Ser)
c.395T>C (p.Phe132Ser)
c.218T>C (p.Phe73Ser)
c.350T>C (p.Phe117Ser)
n.590T>C
6g.33432692T>GCA363680441SYNGAP1c.137T>G (p.Phe46Cys)
c.395T>G (p.Phe132Cys)
c.218T>G (p.Phe73Cys)
c.350T>G (p.Phe117Cys)
n.590T>G
6g.33432693C>ACA363680443SYNGAP1c.138C>A (p.Phe46Leu)
c.396C>A (p.Phe132Leu)
c.219C>A (p.Phe73Leu)
c.351C>A (p.Phe117Leu)
n.591C>A
6g.33432693C>GCA363680444SYNGAP1c.138C>G (p.Phe46Leu)
c.396C>G (p.Phe132Leu)
c.219C>G (p.Phe73Leu)
c.351C>G (p.Phe117Leu)
n.591C>G
6g.33432693C>TCA449860180SYNGAP1c.138C>T (p.Phe46=)
c.396C>T (p.Phe132=)
c.219C>T (p.Phe73=)
c.351C>T (p.Phe117=)
n.591C>T
 COSMIC COSMIC
6g.33432694_33432724dupCA2770571985SYNGAP1c.139_169dup (p.Arg57ProfsTer19)
c.397_427dup (p.Arg143ProfsTer19)
c.220_250dup (p.Arg84ProfsTer19)
c.352_382dup (p.Arg128ProfsTer19)
n.592_622dup
6g.33432694C>ACA3758492SYNGAP1c.139C>A (p.Leu47Met)
c.397C>A (p.Leu133Met)
c.220C>A (p.Leu74Met)
c.352C>A (p.Leu118Met)
n.592C>A
 dbSNP ExAC gnomAD v2
6g.33432694C=CA1620010173SYNGAP1c.139C= (p.Leu47=)
c.397C= (p.Leu133=)
c.220C= (p.Leu74=)
c.352C= (p.Leu118=)
n.592C=
6g.33432694C>GCA363680448SYNGAP1c.139C>G (p.Leu47Val)
c.397C>G (p.Leu133Val)
c.220C>G (p.Leu74Val)
c.352C>G (p.Leu118Val)
n.592C>G
6g.33432694C>TCA449860183SYNGAP1c.139C>T (p.Leu47=)
c.397C>T (p.Leu133=)
c.220C>T (p.Leu74=)
c.352C>T (p.Leu118=)
n.592C>T
 dbSNP
6g.33432695T>ACA363680450SYNGAP1c.140T>A (p.Leu47Gln)
c.398T>A (p.Leu133Gln)
c.221T>A (p.Leu74Gln)
c.353T>A (p.Leu118Gln)
n.593T>A
6g.33432695T>CCA363680451SYNGAP1c.140T>C (p.Leu47Pro)
c.398T>C (p.Leu133Pro)
c.221T>C (p.Leu74Pro)
c.353T>C (p.Leu118Pro)
n.593T>C
6g.33432695T>GCA363680453SYNGAP1c.140T>G (p.Leu47Arg)
c.398T>G (p.Leu133Arg)
c.221T>G (p.Leu74Arg)
c.353T>G (p.Leu118Arg)
n.593T>G
6g.33432696G>ACA449860186SYNGAP1c.141G>A (p.Leu47=)
c.399G>A (p.Leu133=)
c.222G>A (p.Leu74=)
c.354G>A (p.Leu118=)
n.594G>A
6g.33432696G>CCA449860187SYNGAP1c.141G>C (p.Leu47=)
c.399G>C (p.Leu133=)
c.222G>C (p.Leu74=)
c.354G>C (p.Leu118=)
n.594G>C
6g.33432696G>TCA449860189SYNGAP1c.141G>T (p.Leu47=)
c.399G>T (p.Leu133=)
c.222G>T (p.Leu74=)
c.354G>T (p.Leu118=)
n.594G>T
6g.33432697A>CCA363680459SYNGAP1c.142A>C (p.Ser48Arg)
c.400A>C (p.Ser134Arg)
c.223A>C (p.Ser75Arg)
c.355A>C (p.Ser119Arg)
n.595A>C
6g.33432697A>GCA363680455SYNGAP1c.142A>G (p.Ser48Gly)
c.400A>G (p.Ser134Gly)
c.223A>G (p.Ser75Gly)
c.355A>G (p.Ser119Gly)
n.595A>G
6g.33432697A>TCA363680457SYNGAP1c.142A>T (p.Ser48Cys)
c.400A>T (p.Ser134Cys)
c.223A>T (p.Ser75Cys)
c.355A>T (p.Ser119Cys)
n.595A>T
6g.33432698G>ACA363680461SYNGAP1c.143G>A (p.Ser48Asn)
c.401G>A (p.Ser134Asn)
c.224G>A (p.Ser75Asn)
c.356G>A (p.Ser119Asn)
n.596G>A
 ClinVar
6g.33432698G>CCA363680463SYNGAP1c.143G>C (p.Ser48Thr)
c.401G>C (p.Ser134Thr)
c.224G>C (p.Ser75Thr)
c.356G>C (p.Ser119Thr)
n.596G>C
 dbSNP gnomAD v3 gnomAD v4
6g.33432698G=CA1620010174SYNGAP1c.143G= (p.Ser48=)
c.401G= (p.Ser134=)
c.224G= (p.Ser75=)
c.356G= (p.Ser119=)
n.596G=
6g.33432698G>TCA363680465SYNGAP1c.143G>T (p.Ser48Ile)
c.401G>T (p.Ser134Ile)
c.224G>T (p.Ser75Ile)
c.356G>T (p.Ser119Ile)
n.596G>T
6g.33432699C>ACA363680467SYNGAP1c.144C>A (p.Ser48Arg)
c.402C>A (p.Ser134Arg)
c.225C>A (p.Ser75Arg)
c.357C>A (p.Ser119Arg)
n.597C>A
 COSMIC COSMIC
6g.33432699C>GCA363680469SYNGAP1c.144C>G (p.Ser48Arg)
c.402C>G (p.Ser134Arg)
c.225C>G (p.Ser75Arg)
c.357C>G (p.Ser119Arg)
n.597C>G
6g.33432699C>TCA449860198SYNGAP1c.144C>T (p.Ser48=)
c.402C>T (p.Ser134=)
c.225C>T (p.Ser75=)
c.357C>T (p.Ser119=)
n.597C>T
 gnomAD v4
6g.33432700C>ACA449860199SYNGAP1c.145C>A (p.Arg49=)
c.403C>A (p.Arg135=)
c.226C>A (p.Arg76=)
c.358C>A (p.Arg120=)
n.598C>A
6g.33432700C=CA1620010175SYNGAP1c.145C= (p.Arg49=)
c.403C= (p.Arg135=)
c.226C= (p.Arg76=)
c.358C= (p.Arg120=)
n.598C=
6g.33432700C>GCA363680471SYNGAP1c.145C>G (p.Arg49Gly)
c.403C>G (p.Arg135Gly)
c.226C>G (p.Arg76Gly)
c.358C>G (p.Arg120Gly)
n.598C>G
6g.33432700C>TCA363680472SYNGAP1c.145C>T (p.Arg49Ter)
c.403C>T (p.Arg135Ter)
c.226C>T (p.Arg76Ter)
c.358C>T (p.Arg120Ter)
n.598C>T
 ClinVar dbSNP gnomAD v2
6g.33432701G>ACA363680475SYNGAP1c.146G>A (p.Arg49Gln)
c.404G>A (p.Arg135Gln)
c.227G>A (p.Arg76Gln)
c.359G>A (p.Arg120Gln)
n.599G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33432701G>CCA363680477SYNGAP1c.146G>C (p.Arg49Pro)
c.404G>C (p.Arg135Pro)
c.227G>C (p.Arg76Pro)
c.359G>C (p.Arg120Pro)
n.599G>C
6g.33432701G=CA1620010176SYNGAP1c.146G= (p.Arg49=)
c.404G= (p.Arg135=)
c.227G= (p.Arg76=)
c.359G= (p.Arg120=)
n.599G=
6g.33432701G>TCA363680479SYNGAP1c.146G>T (p.Arg49Leu)
c.404G>T (p.Arg135Leu)
c.227G>T (p.Arg76Leu)
c.359G>T (p.Arg120Leu)
n.599G>T
6g.33432701_33432707delCA2697553286SYNGAP1c.146_152del (p.Arg49GlnfsTer?)
c.404_410del (p.Arg135GlnfsTer?)
c.227_233del (p.Arg76GlnfsTer?)
c.359_365del (p.Arg120GlnfsTer?)
n.599_605del
 ClinVar
6g.33432702A>CCA449860207SYNGAP1c.147A>C (p.Arg49=)
c.405A>C (p.Arg135=)
c.228A>C (p.Arg76=)
c.360A>C (p.Arg120=)
n.600A>C
6g.33432702A>GCA449860208SYNGAP1c.147A>G (p.Arg49=)
c.405A>G (p.Arg135=)
c.228A>G (p.Arg76=)
c.360A>G (p.Arg120=)
n.600A>G
6g.33432702A>TCA449860205SYNGAP1c.147A>T (p.Arg49=)
c.405A>T (p.Arg135=)
c.228A>T (p.Arg76=)
c.360A>T (p.Arg120=)
n.600A>T
 gnomAD v4
6g.33432703C>ACA449860211SYNGAP1c.148C>A (p.Arg50=)
c.406C>A (p.Arg136=)
c.229C>A (p.Arg77=)
c.361C>A (p.Arg121=)
n.601C>A
 dbSNP gnomAD v4
6g.33432703C=CA1620010177SYNGAP1c.148C= (p.Arg50=)
c.406C= (p.Arg136=)
c.229C= (p.Arg77=)
c.361C= (p.Arg121=)
n.601C=
6g.33432703C>GCA363680481SYNGAP1c.148C>G (p.Arg50Gly)
c.406C>G (p.Arg136Gly)
c.229C>G (p.Arg77Gly)
c.361C>G (p.Arg121Gly)
n.601C>G
6g.33432703C>TCA363680483SYNGAP1c.148C>T (p.Arg50Trp)
c.406C>T (p.Arg136Trp)
c.229C>T (p.Arg77Trp)
c.361C>T (p.Arg121Trp)
n.601C>T
 ClinVar dbSNP COSMIC COSMIC
6g.33432703dupCA2739289875SYNGAP1c.148dup (p.Arg50ProfsTer16)
c.406dup (p.Arg136ProfsTer16)
c.229dup (p.Arg77ProfsTer16)
c.361dup (p.Arg121ProfsTer16)
n.601dup
6g.33432704G>ACA3758493SYNGAP1c.149G>A (p.Arg50Gln)
c.407G>A (p.Arg136Gln)
c.230G>A (p.Arg77Gln)
c.362G>A (p.Arg121Gln)
n.602G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.33432704G>CCA363680487SYNGAP1c.149G>C (p.Arg50Pro)
c.407G>C (p.Arg136Pro)
c.230G>C (p.Arg77Pro)
c.362G>C (p.Arg121Pro)
n.602G>C
 ClinVar dbSNP
6g.33432704G=CA1620010178SYNGAP1c.149G= (p.Arg50=)
c.407G= (p.Arg136=)
c.230G= (p.Arg77=)
c.362G= (p.Arg121=)
n.602G=
6g.33432704G>TCA363680485SYNGAP1c.149G>T (p.Arg50Leu)
c.407G>T (p.Arg136Leu)
c.230G>T (p.Arg77Leu)
c.362G>T (p.Arg121Leu)
n.602G>T
 gnomAD v4
6g.33432705G>ACA449860216SYNGAP1c.150G>A (p.Arg50=)
c.408G>A (p.Arg136=)
c.231G>A (p.Arg77=)
c.363G>A (p.Arg121=)
n.603G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33432705G>CCA449860219SYNGAP1c.150G>C (p.Arg50=)
c.408G>C (p.Arg136=)
c.231G>C (p.Arg77=)
c.363G>C (p.Arg121=)
n.603G>C
6g.33432705G=CA1620010179SYNGAP1c.150G= (p.Arg50=)
c.408G= (p.Arg136=)
c.231G= (p.Arg77=)
c.363G= (p.Arg121=)
n.603G=
6g.33432705G>TCA449860220SYNGAP1c.150G>T (p.Arg50=)
c.408G>T (p.Arg136=)
c.231G>T (p.Arg77=)
c.363G>T (p.Arg121=)
n.603G>T
 COSMIC COSMIC
6g.33432706C>ACA363680490SYNGAP1c.151C>A (p.Leu51Ile)
c.409C>A (p.Leu137Ile)
c.232C>A (p.Leu78Ile)
c.364C>A (p.Leu122Ile)
n.604C>A
6g.33432706C=CA1620010180SYNGAP1c.151C= (p.Leu51=)
c.409C= (p.Leu137=)
c.232C= (p.Leu78=)
c.364C= (p.Leu122=)
n.604C=
6g.33432706C>GCA363680491SYNGAP1c.151C>G (p.Leu51Val)
c.409C>G (p.Leu137Val)
c.232C>G (p.Leu78Val)
c.364C>G (p.Leu122Val)
n.604C>G
6g.33432706C>TCA449860223SYNGAP1c.151C>T (p.Leu51=)
c.409C>T (p.Leu137=)
c.232C>T (p.Leu78=)
c.364C>T (p.Leu122=)
n.604C>T
 dbSNP
6g.33432706_33432707delinsCTCA1620010181SYNGAP1c.151_152delinsCT (p.Leu51=)
c.409_410delinsCT (p.Leu137=)
c.232_233delinsCT (p.Leu78=)
c.364_365delinsCT (p.Leu122=)
n.604_605delinsCT
6g.33432707delCA915944229SYNGAP1c.152del (p.Leu51GlnfsTer?)
c.410del (p.Leu137GlnfsTer?)
c.233del (p.Leu78GlnfsTer?)
c.365del (p.Leu122GlnfsTer?)
n.605del
 ClinVar dbSNP
6g.33432707T>ACA363680494SYNGAP1c.152T>A (p.Leu51Gln)
c.410T>A (p.Leu137Gln)
c.233T>A (p.Leu78Gln)
c.365T>A (p.Leu122Gln)
n.605T>A
6g.33432707T>CCA363680496SYNGAP1c.152T>C (p.Leu51Pro)
c.410T>C (p.Leu137Pro)
c.233T>C (p.Leu78Pro)
c.365T>C (p.Leu122Pro)
n.605T>C
6g.33432707T>GCA363680497SYNGAP1c.152T>G (p.Leu51Arg)
c.410T>G (p.Leu137Arg)
c.233T>G (p.Leu78Arg)
c.365T>G (p.Leu122Arg)
n.605T>G
6g.33432707_33432708delinsTACA1620010182SYNGAP1c.152_153delinsTA (p.Leu51=)
c.410_411delinsTA (p.Leu137=)
c.233_234delinsTA (p.Leu78=)
c.365_366delinsTA (p.Leu122=)
n.605_606delinsTA
6g.33432708A=CA1620010183SYNGAP1c.153A= (p.Leu51=)
c.411A= (p.Leu137=)
c.234A= (p.Leu78=)
c.366A= (p.Leu122=)
n.606A=
6g.33432708A>CCA449860226SYNGAP1c.153A>C (p.Leu51=)
c.411A>C (p.Leu137=)
c.234A>C (p.Leu78=)
c.366A>C (p.Leu122=)
n.606A>C
6g.33432708A>GCA449860227SYNGAP1c.153A>G (p.Leu51=)
c.411A>G (p.Leu137=)
c.234A>G (p.Leu78=)
c.366A>G (p.Leu122=)
n.606A>G
 dbSNP gnomAD v4
6g.33432708A>TCA449860230SYNGAP1c.153A>T (p.Leu51=)
c.411A>T (p.Leu137=)
c.234A>T (p.Leu78=)
c.366A>T (p.Leu122=)
n.606A>T
 ClinVar
6g.33432712delCA137096976SYNGAP1c.157del (p.Ser53AlafsTer?)
c.415del (p.Ser139AlafsTer?)
c.238del (p.Ser80AlafsTer?)
c.370del (p.Ser124AlafsTer?)
n.610del
 dbSNP COSMIC COSMIC
6g.33432709A=CA1620010184SYNGAP1c.154A= (p.Lys52=)
c.412A= (p.Lys138=)
c.235A= (p.Lys79=)
c.367A= (p.Lys123=)
n.607A=
6g.33432709A>CCA363680501SYNGAP1c.154A>C (p.Lys52Gln)
c.412A>C (p.Lys138Gln)
c.235A>C (p.Lys79Gln)
c.367A>C (p.Lys123Gln)
n.607A>C
6g.33432709A>GCA363680502SYNGAP1c.154A>G (p.Lys52Glu)
c.412A>G (p.Lys138Glu)
c.235A>G (p.Lys79Glu)
c.367A>G (p.Lys123Glu)
n.607A>G
6g.33432709A>TCA118186SYNGAP1c.154A>T (p.Lys52Ter)
c.412A>T (p.Lys138Ter)
c.235A>T (p.Lys79Ter)
c.367A>T (p.Lys123Ter)
n.607A>T
 ClinVar dbSNP
6g.33432710A>CCA363680505SYNGAP1c.155A>C (p.Lys52Thr)
c.413A>C (p.Lys138Thr)
c.236A>C (p.Lys79Thr)
c.368A>C (p.Lys123Thr)
n.608A>C
6g.33432710A>GCA363680506SYNGAP1c.155A>G (p.Lys52Arg)
c.413A>G (p.Lys138Arg)
c.236A>G (p.Lys79Arg)
c.368A>G (p.Lys123Arg)
n.608A>G
6g.33432710A>TCA363680508SYNGAP1c.155A>T (p.Lys52Ile)
c.413A>T (p.Lys138Ile)
c.236A>T (p.Lys79Ile)
c.368A>T (p.Lys123Ile)
n.608A>T
6g.33432711A>CCA363680510SYNGAP1c.156A>C (p.Lys52Asn)
c.414A>C (p.Lys138Asn)
c.237A>C (p.Lys79Asn)
c.369A>C (p.Lys123Asn)
n.609A>C
6g.33432711A>GCA449860235SYNGAP1c.156A>G (p.Lys52=)
c.414A>G (p.Lys138=)
c.237A>G (p.Lys79=)
c.369A>G (p.Lys123=)
n.609A>G
6g.33432711A>TCA363680512SYNGAP1c.156A>T (p.Lys52Asn)
c.414A>T (p.Lys138Asn)
c.237A>T (p.Lys79Asn)
c.369A>T (p.Lys123Asn)
n.609A>T
6g.33432712A>CCA363680518SYNGAP1c.157A>C (p.Ser53Arg)
c.415A>C (p.Ser139Arg)
c.238A>C (p.Ser80Arg)
c.370A>C (p.Ser124Arg)
n.610A>C
6g.33432712A>GCA363680514SYNGAP1c.157A>G (p.Ser53Gly)
c.415A>G (p.Ser139Gly)
c.238A>G (p.Ser80Gly)
c.370A>G (p.Ser124Gly)
n.610A>G
6g.33432712A>TCA363680516SYNGAP1c.157A>T (p.Ser53Cys)
c.415A>T (p.Ser139Cys)
c.238A>T (p.Ser80Cys)
c.370A>T (p.Ser124Cys)
n.610A>T
6g.33432713G>ACA363680520SYNGAP1c.158G>A (p.Ser53Asn)
c.416G>A (p.Ser139Asn)
c.239G>A (p.Ser80Asn)
c.371G>A (p.Ser124Asn)
n.611G>A
 ClinVar gnomAD v4
6g.33432713G>CCA363680522SYNGAP1c.158G>C (p.Ser53Thr)
c.416G>C (p.Ser139Thr)
c.239G>C (p.Ser80Thr)
c.371G>C (p.Ser124Thr)
n.611G>C
6g.33432713G>TCA363680524SYNGAP1c.158G>T (p.Ser53Ile)
c.416G>T (p.Ser139Ile)
c.239G>T (p.Ser80Ile)
c.371G>T (p.Ser124Ile)
n.611G>T
6g.33432714C>ACA363680526SYNGAP1c.159C>A (p.Ser53Arg)
c.417C>A (p.Ser139Arg)
c.240C>A (p.Ser80Arg)
c.372C>A (p.Ser124Arg)
n.612C>A
6g.33432714C>GCA363680528SYNGAP1c.159C>G (p.Ser53Arg)
c.417C>G (p.Ser139Arg)
c.240C>G (p.Ser80Arg)
c.372C>G (p.Ser124Arg)
n.612C>G
6g.33432714C>TCA449860246SYNGAP1c.159C>T (p.Ser53=)
c.417C>T (p.Ser139=)
c.240C>T (p.Ser80=)
c.372C>T (p.Ser124=)
n.612C>T
6g.33432715T>ACA363680530SYNGAP1c.160T>A (p.Ser54Thr)
c.418T>A (p.Ser140Thr)
c.241T>A (p.Ser81Thr)
c.373T>A (p.Ser125Thr)
n.613T>A
6g.33432715T>CCA363680531SYNGAP1c.160T>C (p.Ser54Pro)
c.418T>C (p.Ser140Pro)
c.241T>C (p.Ser81Pro)
c.373T>C (p.Ser125Pro)
n.613T>C
6g.33432715T>GCA363680533SYNGAP1c.160T>G (p.Ser54Ala)
c.418T>G (p.Ser140Ala)
c.241T>G (p.Ser81Ala)
c.373T>G (p.Ser125Ala)
n.613T>G
6g.33432716C>ACA363680536SYNGAP1c.161C>A (p.Ser54Tyr)
c.419C>A (p.Ser140Tyr)
c.242C>A (p.Ser81Tyr)
c.374C>A (p.Ser125Tyr)
n.614C>A
6g.33432716C>GCA363680540SYNGAP1c.161C>G (p.Ser54Cys)
c.419C>G (p.Ser140Cys)
c.242C>G (p.Ser81Cys)
c.374C>G (p.Ser125Cys)
n.614C>G
6g.33432716C>TCA363680543SYNGAP1c.161C>T (p.Ser54Phe)
c.419C>T (p.Ser140Phe)
c.242C>T (p.Ser81Phe)
c.374C>T (p.Ser125Phe)
n.614C>T
6g.33432717C>ACA449860255SYNGAP1c.162C>A (p.Ser54=)
c.420C>A (p.Ser140=)
c.243C>A (p.Ser81=)
c.375C>A (p.Ser125=)
n.615C>A
6g.33432717C>GCA449860256SYNGAP1c.162C>G (p.Ser54=)
c.420C>G (p.Ser140=)
c.243C>G (p.Ser81=)
c.375C>G (p.Ser125=)
n.615C>G
6g.33432717C>TCA449860257SYNGAP1c.162C>T (p.Ser54=)
c.420C>T (p.Ser140=)
c.243C>T (p.Ser81=)
c.375C>T (p.Ser125=)
n.615C>T
6g.33432718A>CCA363680549SYNGAP1c.163A>C (p.Ile55Leu)
c.421A>C (p.Ile141Leu)
c.244A>C (p.Ile82Leu)
c.376A>C (p.Ile126Leu)
n.616A>C
6g.33432718A>GCA363680548SYNGAP1c.163A>G (p.Ile55Val)
c.421A>G (p.Ile141Val)
c.244A>G (p.Ile82Val)
c.376A>G (p.Ile126Val)
n.616A>G
 gnomAD v4
6g.33432718A>TCA363680546SYNGAP1c.163A>T (p.Ile55Phe)
c.421A>T (p.Ile141Phe)
c.244A>T (p.Ile82Phe)
c.376A>T (p.Ile126Phe)
n.616A>T
6g.33432719T>ACA363680552SYNGAP1c.164T>A (p.Ile55Asn)
c.422T>A (p.Ile141Asn)
c.245T>A (p.Ile82Asn)
c.377T>A (p.Ile126Asn)
n.617T>A
6g.33432719T>CCA363680553SYNGAP1c.164T>C (p.Ile55Thr)
c.422T>C (p.Ile141Thr)
c.245T>C (p.Ile82Thr)
c.377T>C (p.Ile126Thr)
n.617T>C
6g.33432719T>GCA363680554SYNGAP1c.164T>G (p.Ile55Ser)
c.422T>G (p.Ile141Ser)
c.245T>G (p.Ile82Ser)
c.377T>G (p.Ile126Ser)
n.617T>G
6g.33432720C>ACA449860263SYNGAP1c.165C>A (p.Ile55=)
c.423C>A (p.Ile141=)
c.246C>A (p.Ile82=)
c.378C>A (p.Ile126=)
n.618C>A
6g.33432720C>GCA363680557SYNGAP1c.165C>G (p.Ile55Met)
c.423C>G (p.Ile141Met)
c.246C>G (p.Ile82Met)
c.378C>G (p.Ile126Met)
n.618C>G
6g.33432720C>TCA449860265SYNGAP1c.165C>T (p.Ile55=)
c.423C>T (p.Ile141=)
c.246C>T (p.Ile82=)
c.378C>T (p.Ile126=)
n.618C>T
6g.33432721_33432724delCA2695202891SYNGAP1c.166_169del (p.Lys56GlufsTer?)
c.424_427del (p.Lys142GlufsTer?)
c.247_250del (p.Lys83GlufsTer?)
c.379_382del (p.Lys127GlufsTer?)
n.619_622del
6g.33432721A=CA1620010185SYNGAP1c.166A= (p.Lys56=)
c.424A= (p.Lys142=)
c.247A= (p.Lys83=)
c.379A= (p.Lys127=)
n.619A=
6g.33432721A>CCA363680559SYNGAP1c.166A>C (p.Lys56Gln)
c.424A>C (p.Lys142Gln)
c.247A>C (p.Lys83Gln)
c.379A>C (p.Lys127Gln)
n.619A>C
6g.33432721A>GCA363680561SYNGAP1c.166A>G (p.Lys56Glu)
c.424A>G (p.Lys142Glu)
c.247A>G (p.Lys83Glu)
c.379A>G (p.Lys127Glu)
n.619A>G
6g.33432721A>TCA363680563SYNGAP1c.166A>T (p.Lys56Ter)
c.424A>T (p.Lys142Ter)
c.247A>T (p.Lys83Ter)
c.379A>T (p.Lys127Ter)
n.619A>T
 dbSNP
6g.33432722A>CCA363680565SYNGAP1c.167A>C (p.Lys56Thr)
c.425A>C (p.Lys142Thr)
c.248A>C (p.Lys83Thr)
c.380A>C (p.Lys127Thr)
n.620A>C
6g.33432722A>GCA363680569SYNGAP1c.167A>G (p.Lys56Arg)
c.425A>G (p.Lys142Arg)
c.248A>G (p.Lys83Arg)
c.380A>G (p.Lys127Arg)
n.620A>G
6g.33432722A>TCA363680567SYNGAP1c.167A>T (p.Lys56Ile)
c.425A>T (p.Lys142Ile)
c.248A>T (p.Lys83Ile)
c.380A>T (p.Lys127Ile)
n.620A>T
6g.33432728_33432731delCA658761546SYNGAP1c.173_176del (p.Thr58SerfsTer29)
c.431_434del (p.Thr144SerfsTer29)
c.254_257del (p.Thr85SerfsTer29)
c.386_389del (p.Thr129SerfsTer29)
n.626_629del
6g.33432723A>CCA363680571SYNGAP1c.168A>C (p.Lys56Asn)
c.426A>C (p.Lys142Asn)
c.249A>C (p.Lys83Asn)
c.381A>C (p.Lys127Asn)
n.621A>C
6g.33432723A>GCA449860271SYNGAP1c.168A>G (p.Lys56=)
c.426A>G (p.Lys142=)
c.249A>G (p.Lys83=)
c.381A>G (p.Lys127=)
n.621A>G
6g.33432723A>TCA363680573SYNGAP1c.168A>T (p.Lys56Asn)
c.426A>T (p.Lys142Asn)
c.249A>T (p.Lys83Asn)
c.381A>T (p.Lys127Asn)
n.621A>T
6g.33432724C>ACA449860279SYNGAP1c.169C>A (p.Arg57=)
c.427C>A (p.Arg143=)
c.250C>A (p.Arg84=)
c.382C>A (p.Arg128=)
n.622C>A
6g.33432724C=CA1620010186SYNGAP1c.169C= (p.Arg57=)
c.427C= (p.Arg143=)
c.250C= (p.Arg84=)
c.382C= (p.Arg128=)
n.622C=
6g.33432724C>GCA363680575SYNGAP1c.169C>G (p.Arg57Gly)
c.427C>G (p.Arg143Gly)
c.250C>G (p.Arg84Gly)
c.382C>G (p.Arg128Gly)
n.622C>G
6g.33432724C>TCA144638SYNGAP1c.169C>T (p.Arg57Ter)
c.427C>T (p.Arg143Ter)
c.250C>T (p.Arg84Ter)
c.382C>T (p.Arg128Ter)
n.622C>T
 ClinVar dbSNP
6g.33432725G>ACA363680579SYNGAP1c.170G>A (p.Arg57Gln)
c.428G>A (p.Arg143Gln)
c.251G>A (p.Arg84Gln)
c.383G>A (p.Arg128Gln)
n.623G>A
 dbSNP gnomAD v4 COSMIC COSMIC
6g.33432725G>CCA363680582SYNGAP1c.170G>C (p.Arg57Pro)
c.428G>C (p.Arg143Pro)
c.251G>C (p.Arg84Pro)
c.383G>C (p.Arg128Pro)
n.623G>C
 gnomAD v4
6g.33432725G=CA1620010187SYNGAP1c.170G= (p.Arg57=)
c.428G= (p.Arg143=)
c.251G= (p.Arg84=)
c.383G= (p.Arg128=)
n.623G=
6g.33432725G>TCA363680580SYNGAP1c.170G>T (p.Arg57Leu)
c.428G>T (p.Arg143Leu)
c.251G>T (p.Arg84Leu)
c.383G>T (p.Arg128Leu)
n.623G>T
 gnomAD v4
6g.33432726A=CA1620010188SYNGAP1c.171A= (p.Arg57=)
c.429A= (p.Arg143=)
c.252A= (p.Arg84=)
c.384A= (p.Arg128=)
n.624A=
6g.33432726A>CCA449860282SYNGAP1c.171A>C (p.Arg57=)
c.429A>C (p.Arg143=)
c.252A>C (p.Arg84=)
c.384A>C (p.Arg128=)
n.624A>C
 gnomAD v4
6g.33432726A>GCA449860283SYNGAP1c.171A>G (p.Arg57=)
c.429A>G (p.Arg143=)
c.252A>G (p.Arg84=)
c.384A>G (p.Arg128=)
n.624A>G
 dbSNP gnomAD v2 gnomAD v4
6g.33432726A>TCA449860285SYNGAP1c.171A>T (p.Arg57=)
c.429A>T (p.Arg143=)
c.252A>T (p.Arg84=)
c.384A>T (p.Arg128=)
n.624A>T
6g.33432727A>CCA363680584SYNGAP1c.172A>C (p.Thr58Pro)
c.430A>C (p.Thr144Pro)
c.253A>C (p.Thr85Pro)
c.385A>C (p.Thr129Pro)
n.625A>C
6g.33432727A>GCA363680585SYNGAP1c.172A>G (p.Thr58Ala)
c.430A>G (p.Thr144Ala)
c.253A>G (p.Thr85Ala)
c.385A>G (p.Thr129Ala)
n.625A>G
6g.33432727A>TCA363680587SYNGAP1c.172A>T (p.Thr58Ser)
c.430A>T (p.Thr144Ser)
c.253A>T (p.Thr85Ser)
c.385A>T (p.Thr129Ser)
n.625A>T
6g.33432728C>ACA363680589SYNGAP1c.173C>A (p.Thr58Lys)
c.431C>A (p.Thr144Lys)
c.254C>A (p.Thr85Lys)
c.386C>A (p.Thr129Lys)
n.626C>A
6g.33432728C=CA1620010189SYNGAP1c.173C= (p.Thr58=)
c.431C= (p.Thr144=)
c.254C= (p.Thr85=)
c.386C= (p.Thr129=)
n.626C=
6g.33432728C>GCA363680591SYNGAP1c.173C>G (p.Thr58Arg)
c.431C>G (p.Thr144Arg)
c.254C>G (p.Thr85Arg)
c.386C>G (p.Thr129Arg)
n.626C>G
6g.33432728C>TCA363680593SYNGAP1c.173C>T (p.Thr58Met)
c.431C>T (p.Thr144Met)
c.254C>T (p.Thr85Met)
c.386C>T (p.Thr129Met)
n.626C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33432729G>ACA3758494SYNGAP1c.174G>A (p.Thr58=)
c.432G>A (p.Thr144=)
c.255G>A (p.Thr85=)
c.387G>A (p.Thr129=)
n.627G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33432729G>CCA449860293SYNGAP1c.174G>C (p.Thr58=)
c.432G>C (p.Thr144=)
c.255G>C (p.Thr85=)
c.387G>C (p.Thr129=)
n.627G>C
6g.33432729G=CA1620010190SYNGAP1c.174G= (p.Thr58=)
c.432G= (p.Thr144=)
c.255G= (p.Thr85=)
c.387G= (p.Thr129=)
n.627G=
6g.33432729G>TCA449860296SYNGAP1c.174G>T (p.Thr58=)
c.432G>T (p.Thr144=)
c.255G>T (p.Thr85=)
c.387G>T (p.Thr129=)
n.627G>T
6g.33432730A=CA1620010191SYNGAP1c.175A= (p.Lys59=)
c.433A= (p.Lys145=)
c.256A= (p.Lys86=)
c.388A= (p.Lys130=)
n.628A=
6g.33432730A>CCA363680596SYNGAP1c.175A>C (p.Lys59Gln)
c.433A>C (p.Lys145Gln)
c.256A>C (p.Lys86Gln)
c.388A>C (p.Lys130Gln)
n.628A>C
6g.33432730A>GCA363680598SYNGAP1c.175A>G (p.Lys59Glu)
c.433A>G (p.Lys145Glu)
c.256A>G (p.Lys86Glu)
c.388A>G (p.Lys130Glu)
n.628A>G
6g.33432730A>TCA363680600SYNGAP1c.175A>T (p.Lys59Ter)
c.433A>T (p.Lys145Ter)
c.256A>T (p.Lys86Ter)
c.388A>T (p.Lys130Ter)
n.628A>T
 dbSNP
6g.33432732_33432744dupCA658760371SYNGAP1c.177_189dup (p.Leu64ValfsTer6)
c.435_447dup (p.Leu150ValfsTer6)
c.258_270dup (p.Leu91ValfsTer6)
c.390_402dup (p.Leu135ValfsTer6)
n.630_642dup
 ClinVar dbSNP
6g.33432731_33432744dupCA2580074390SYNGAP1c.176_189dup (p.Leu64SerfsTer29)
c.434_447dup (p.Leu150SerfsTer29)
c.257_270dup (p.Leu91SerfsTer29)
c.389_402dup (p.Leu135SerfsTer29)
n.629_642dup
 ClinVar
6g.33432731A=CA1620010192SYNGAP1c.176A= (p.Lys59=)
c.434A= (p.Lys145=)
c.257A= (p.Lys86=)
c.389A= (p.Lys130=)
n.629A=
6g.33432731A>CCA363680606SYNGAP1c.176A>C (p.Lys59Thr)
c.434A>C (p.Lys145Thr)
c.257A>C (p.Lys86Thr)
c.389A>C (p.Lys130Thr)
n.629A>C
6g.33432731A>GCA363680605SYNGAP1c.176A>G (p.Lys59Arg)
c.434A>G (p.Lys145Arg)
c.257A>G (p.Lys86Arg)
c.389A>G (p.Lys130Arg)
n.629A>G
 dbSNP gnomAD v3 gnomAD v4
6g.33432731A>TCA363680602SYNGAP1c.176A>T (p.Lys59Met)
c.434A>T (p.Lys145Met)
c.257A>T (p.Lys86Met)
c.389A>T (p.Lys130Met)
n.629A>T
6g.33432732G>ACA449860302SYNGAP1c.177G>A (p.Lys59=)
c.435G>A (p.Lys145=)
c.258G>A (p.Lys86=)
c.390G>A (p.Lys130=)
n.630G>A
6g.33432732G>CCA363680609SYNGAP1c.177G>C (p.Lys59Asn)
c.435G>C (p.Lys145Asn)
c.258G>C (p.Lys86Asn)
c.390G>C (p.Lys130Asn)
n.630G>C
6g.33432732G>TCA363680611SYNGAP1c.177G>T (p.Lys59Asn)
c.435G>T (p.Lys145Asn)
c.258G>T (p.Lys86Asn)
c.390G>T (p.Lys130Asn)
n.630G>T
6g.33432733T>ACA363680613SYNGAP1c.178T>A (p.Ser60Thr)
c.436T>A (p.Ser146Thr)
c.259T>A (p.Ser87Thr)
c.391T>A (p.Ser131Thr)
n.631T>A
6g.33432733T>CCA363680617SYNGAP1c.178T>C (p.Ser60Pro)
c.436T>C (p.Ser146Pro)
c.259T>C (p.Ser87Pro)
c.391T>C (p.Ser131Pro)
n.631T>C
6g.33432733T>GCA363680616SYNGAP1c.178T>G (p.Ser60Ala)
c.436T>G (p.Ser146Ala)
c.259T>G (p.Ser87Ala)
c.391T>G (p.Ser131Ala)
n.631T>G
6g.33432734C>ACA363680620SYNGAP1c.179C>A (p.Ser60Ter)
c.437C>A (p.Ser146Ter)
c.260C>A (p.Ser87Ter)
c.392C>A (p.Ser131Ter)
n.632C>A
6g.33432734C>GCA363680622SYNGAP1c.179C>G (p.Ser60Ter)
c.437C>G (p.Ser146Ter)
c.260C>G (p.Ser87Ter)
c.392C>G (p.Ser131Ter)
n.632C>G
6g.33432734C>TCA363680623SYNGAP1c.179C>T (p.Ser60Leu)
c.437C>T (p.Ser146Leu)
c.260C>T (p.Ser87Leu)
c.392C>T (p.Ser131Leu)
n.632C>T
6g.33432736_33432737delCA2557288211SYNGAP1c.181_182del (p.Gln61ThrfsTer4)
c.439_440del (p.Gln147ThrfsTer4)
c.262_263del (p.Gln88ThrfsTer4)
c.394_395del (p.Gln132ThrfsTer4)
n.634_635del
6g.33432735_33432745dupCA2580074391SYNGAP1c.180_190dup (p.Leu64HisfsTer28)
c.438_448dup (p.Leu150HisfsTer28)
c.261_271dup (p.Leu91HisfsTer28)
c.393_403dup (p.Leu135HisfsTer28)
n.633_643dup
 ClinVar
6g.33432735A>CCA449860324SYNGAP1c.180A>C (p.Ser60=)
c.438A>C (p.Ser146=)
c.261A>C (p.Ser87=)
c.393A>C (p.Ser131=)
n.633A>C
6g.33432735A>GCA449860320SYNGAP1c.180A>G (p.Ser60=)
c.438A>G (p.Ser146=)
c.261A>G (p.Ser87=)
c.393A>G (p.Ser131=)
n.633A>G
 gnomAD v4
6g.33432735A>TCA449860322SYNGAP1c.180A>T (p.Ser60=)
c.438A>T (p.Ser146=)
c.261A>T (p.Ser87=)
c.393A>T (p.Ser131=)
n.633A>T
6g.33432736C>ACA363680625SYNGAP1c.181C>A (p.Gln61Lys)
c.439C>A (p.Gln147Lys)
c.262C>A (p.Gln88Lys)
c.394C>A (p.Gln132Lys)
n.634C>A
6g.33432736C=CA1620010193SYNGAP1c.181C= (p.Gln61=)
c.439C= (p.Gln147=)
c.262C= (p.Gln88=)
c.394C= (p.Gln132=)
n.634C=
6g.33432736C>GCA363680627SYNGAP1c.181C>G (p.Gln61Glu)
c.439C>G (p.Gln147Glu)
c.262C>G (p.Gln88Glu)
c.394C>G (p.Gln132Glu)
n.634C>G
6g.33432736C>TCA363680629SYNGAP1c.181C>T (p.Gln61Ter)
c.439C>T (p.Gln147Ter)
c.262C>T (p.Gln88Ter)
c.394C>T (p.Gln132Ter)
n.634C>T
 dbSNP
6g.33432737A>CCA363680632SYNGAP1c.182A>C (p.Gln61Pro)
c.440A>C (p.Gln147Pro)
c.263A>C (p.Gln88Pro)
c.395A>C (p.Gln132Pro)
n.635A>C
6g.33432737A>GCA363680633SYNGAP1c.182A>G (p.Gln61Arg)
c.440A>G (p.Gln147Arg)
c.263A>G (p.Gln88Arg)
c.395A>G (p.Gln132Arg)
n.635A>G
6g.33432737A>TCA363680635SYNGAP1c.182A>T (p.Gln61Leu)
c.440A>T (p.Gln147Leu)
c.263A>T (p.Gln88Leu)
c.395A>T (p.Gln132Leu)
n.635A>T
6g.33432738A=CA1620010194SYNGAP1c.183A= (p.Gln61=)
c.441A= (p.Gln147=)
c.264A= (p.Gln88=)
c.396A= (p.Gln132=)
n.636A=
6g.33432738A>CCA363680637SYNGAP1c.183A>C (p.Gln61His)
c.441A>C (p.Gln147His)
c.264A>C (p.Gln88His)
c.396A>C (p.Gln132His)
n.636A>C
6g.33432738A>GCA449860340SYNGAP1c.183A>G (p.Gln61=)
c.441A>G (p.Gln147=)
c.264A>G (p.Gln88=)
c.396A>G (p.Gln132=)
n.636A>G
6g.33432738A>TCA363680639SYNGAP1c.183A>T (p.Gln61His)
c.441A>T (p.Gln147His)
c.264A>T (p.Gln88His)
c.396A>T (p.Gln132His)
n.636A>T
 dbSNP
6g.33432739C>ACA363680645SYNGAP1c.184C>A (p.Pro62Thr)
c.442C>A (p.Pro148Thr)
c.265C>A (p.Pro89Thr)
c.397C>A (p.Pro133Thr)
n.637C>A
6g.33432739C>GCA363680643SYNGAP1c.184C>G (p.Pro62Ala)
c.442C>G (p.Pro148Ala)
c.265C>G (p.Pro89Ala)
c.397C>G (p.Pro133Ala)
n.637C>G
 gnomAD v4
6g.33432739C>TCA363680642SYNGAP1c.184C>T (p.Pro62Ser)
c.442C>T (p.Pro148Ser)
c.265C>T (p.Pro89Ser)
c.397C>T (p.Pro133Ser)
n.637C>T
 gnomAD v4
6g.33432740C>ACA363680648SYNGAP1c.185C>A (p.Pro62His)
c.443C>A (p.Pro148His)
c.266C>A (p.Pro89His)
c.398C>A (p.Pro133His)
n.638C>A
6g.33432740C>GCA363680650SYNGAP1c.185C>G (p.Pro62Arg)
c.443C>G (p.Pro148Arg)
c.266C>G (p.Pro89Arg)
c.398C>G (p.Pro133Arg)
n.638C>G
6g.33432740C>TCA363680652SYNGAP1c.185C>T (p.Pro62Leu)
c.443C>T (p.Pro148Leu)
c.266C>T (p.Pro89Leu)
c.398C>T (p.Pro133Leu)
n.638C>T
6g.33432741C>ACA449860350SYNGAP1c.186C>A (p.Pro62=)
c.444C>A (p.Pro148=)
c.267C>A (p.Pro89=)
c.399C>A (p.Pro133=)
n.639C>A
 gnomAD v3 gnomAD v4
6g.33432741C=CA1620010195SYNGAP1c.186C= (p.Pro62=)
c.444C= (p.Pro148=)
c.267C= (p.Pro89=)
c.399C= (p.Pro133=)
n.639C=
6g.33432741C>GCA449860356SYNGAP1c.186C>G (p.Pro62=)
c.444C>G (p.Pro148=)
c.267C>G (p.Pro89=)
c.399C>G (p.Pro133=)
n.639C>G
6g.33432741C>TCA449860357SYNGAP1c.186C>T (p.Pro62=)
c.444C>T (p.Pro148=)
c.267C>T (p.Pro89=)
c.399C>T (p.Pro133=)
n.639C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33432742A>CCA363680654SYNGAP1c.187A>C (p.Lys63Gln)
c.445A>C (p.Lys149Gln)
c.268A>C (p.Lys90Gln)
c.400A>C (p.Lys134Gln)
n.640A>C
6g.33432742A>GCA363680656SYNGAP1c.187A>G (p.Lys63Glu)
c.445A>G (p.Lys149Glu)
c.268A>G (p.Lys90Glu)
c.400A>G (p.Lys134Glu)
n.640A>G
6g.33432742A>TCA363680658SYNGAP1c.187A>T (p.Lys63Ter)
c.445A>T (p.Lys149Ter)
c.268A>T (p.Lys90Ter)
c.400A>T (p.Lys134Ter)
n.640A>T
6g.33432743A=CA1620010196SYNGAP1c.188A= (p.Lys63=)
c.446A= (p.Lys149=)
c.269A= (p.Lys90=)
c.401A= (p.Lys134=)
n.641A=
6g.33432743A>CCA363680660SYNGAP1c.188A>C (p.Lys63Thr)
c.446A>C (p.Lys149Thr)
c.269A>C (p.Lys90Thr)
c.401A>C (p.Lys134Thr)
n.641A>C
 dbSNP
6g.33432743A>GCA363680662SYNGAP1c.188A>G (p.Lys63Arg)
c.446A>G (p.Lys149Arg)
c.269A>G (p.Lys90Arg)
c.401A>G (p.Lys134Arg)
n.641A>G
6g.33432743A>TCA363680664SYNGAP1c.188A>T (p.Lys63Ile)
c.446A>T (p.Lys149Ile)
c.269A>T (p.Lys90Ile)
c.401A>T (p.Lys134Ile)
n.641A>T
6g.33432744A=CA1620010197SYNGAP1c.189A= (p.Lys63=)
c.447A= (p.Lys149=)
c.270A= (p.Lys90=)
c.402A= (p.Lys134=)
n.642A=
6g.33432744A>CCA363680665SYNGAP1c.189A>C (p.Lys63Asn)
c.447A>C (p.Lys149Asn)
c.270A>C (p.Lys90Asn)
c.402A>C (p.Lys134Asn)
n.642A>C
6g.33432744A>GCA3758495SYNGAP1c.189A>G (p.Lys63=)
c.447A>G (p.Lys149=)
c.270A>G (p.Lys90=)
c.402A>G (p.Lys134=)
n.642A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33432744A>TCA363680668SYNGAP1c.189A>T (p.Lys63Asn)
c.447A>T (p.Lys149Asn)
c.270A>T (p.Lys90Asn)
c.402A>T (p.Lys134Asn)
n.642A>T
6g.33432745C>ACA363680674SYNGAP1c.190C>A (p.Leu64Ile)
c.448C>A (p.Leu150Ile)
c.271C>A (p.Leu91Ile)
c.403C>A (p.Leu135Ile)
n.643C>A
6g.33432745C>GCA363680672SYNGAP1c.190C>G (p.Leu64Val)
c.448C>G (p.Leu150Val)
c.271C>G (p.Leu91Val)
c.403C>G (p.Leu135Val)
n.643C>G
6g.33432745C>TCA363680670SYNGAP1c.190C>T (p.Leu64Phe)
c.448C>T (p.Leu150Phe)
c.271C>T (p.Leu91Phe)
c.403C>T (p.Leu135Phe)
n.643C>T
6g.33432746T>ACA363680680SYNGAP1c.191T>A (p.Leu64His)
c.449T>A (p.Leu150His)
c.272T>A (p.Leu91His)
c.404T>A (p.Leu135His)
n.644T>A
6g.33432746T>CCA363680676SYNGAP1c.191T>C (p.Leu64Pro)
c.449T>C (p.Leu150Pro)
c.272T>C (p.Leu91Pro)
c.404T>C (p.Leu135Pro)
n.644T>C
6g.33432746T>GCA363680678SYNGAP1c.191T>G (p.Leu64Arg)
c.449T>G (p.Leu150Arg)
c.272T>G (p.Leu91Arg)
c.404T>G (p.Leu135Arg)
n.644T>G
6g.33432747T>ACA449860380SYNGAP1c.192T>A (p.Leu64=)
c.450T>A (p.Leu150=)
c.273T>A (p.Leu91=)
c.405T>A (p.Leu135=)
n.645T>A
 dbSNP gnomAD v2 gnomAD v4
6g.33432747T>CCA449860381SYNGAP1c.192T>C (p.Leu64=)
c.450T>C (p.Leu150=)
c.273T>C (p.Leu91=)
c.405T>C (p.Leu135=)
n.645T>C
6g.33432747T>GCA449860382SYNGAP1c.192T>G (p.Leu64=)
c.450T>G (p.Leu150=)
c.273T>G (p.Leu91=)
c.405T>G (p.Leu135=)
n.645T>G
 dbSNP
6g.33432747T=CA1620010198SYNGAP1c.192T= (p.Leu64=)
c.450T= (p.Leu150=)
c.273T= (p.Leu91=)
c.405T= (p.Leu135=)
n.645T=
6g.33432748G>ACA363680682SYNGAP1c.193G>A (p.Asp65Asn)
c.451G>A (p.Asp151Asn)
c.274G>A (p.Asp92Asn)
c.406G>A (p.Asp136Asn)
n.646G>A
6g.33432748G>CCA3758496SYNGAP1c.193G>C (p.Asp65His)
c.451G>C (p.Asp151His)
c.274G>C (p.Asp92His)
c.406G>C (p.Asp136His)
n.646G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33432748G=CA1620010199SYNGAP1c.193G= (p.Asp65=)
c.451G= (p.Asp151=)
c.274G= (p.Asp92=)
c.406G= (p.Asp136=)
n.646G=
6g.33432748G>TCA363680684SYNGAP1c.193G>T (p.Asp65Tyr)
c.451G>T (p.Asp151Tyr)
c.274G>T (p.Asp92Tyr)
c.406G>T (p.Asp136Tyr)
n.646G>T
6g.33432752_33432756delCA913187326SYNGAP1c.197_201del (p.Arg66GlnfsTer14)
c.455_459del (p.Arg152GlnfsTer14)
c.278_282del (p.Arg93GlnfsTer14)
c.410_414del (p.Arg137GlnfsTer14)
n.650_654del
6g.33432749A>CCA363680685SYNGAP1c.194A>C (p.Asp65Ala)
c.452A>C (p.Asp151Ala)
c.275A>C (p.Asp92Ala)
c.407A>C (p.Asp136Ala)
n.647A>C
 gnomAD v4
6g.33432749A>GCA363680687SYNGAP1c.194A>G (p.Asp65Gly)
c.452A>G (p.Asp151Gly)
c.275A>G (p.Asp92Gly)
c.407A>G (p.Asp136Gly)
n.647A>G
6g.33432749A>TCA363680689SYNGAP1c.194A>T (p.Asp65Val)
c.452A>T (p.Asp151Val)
c.275A>T (p.Asp92Val)
c.407A>T (p.Asp136Val)
n.647A>T
6g.33432750C>ACA363680692SYNGAP1c.195C>A (p.Asp65Glu)
c.453C>A (p.Asp151Glu)
c.276C>A (p.Asp92Glu)
c.408C>A (p.Asp136Glu)
n.648C>A
 ClinVar
6g.33432750C>GCA363680693SYNGAP1c.195C>G (p.Asp65Glu)
c.453C>G (p.Asp151Glu)
c.276C>G (p.Asp92Glu)
c.408C>G (p.Asp136Glu)
n.648C>G
6g.33432750C>TCA449860391SYNGAP1c.195C>T (p.Asp65=)
c.453C>T (p.Asp151=)
c.276C>T (p.Asp92=)
c.408C>T (p.Asp136=)
n.648C>T
6g.33432751C>ACA137096987SYNGAP1c.196C>A (p.Arg66=)
c.454C>A (p.Arg152=)
c.277C>A (p.Arg93=)
c.409C>A (p.Arg137=)
n.649C>A
 dbSNP gnomAD v3 gnomAD v4
6g.33432751C=CA1620010200SYNGAP1c.196C= (p.Arg66=)
c.454C= (p.Arg152=)
c.277C= (p.Arg93=)
c.409C= (p.Arg137=)
n.649C=
6g.33432751C>GCA363680695SYNGAP1c.196C>G (p.Arg66Gly)
c.454C>G (p.Arg152Gly)
c.277C>G (p.Arg93Gly)
c.409C>G (p.Arg137Gly)
n.649C>G
6g.33432751C>TCA363680697SYNGAP1c.196C>T (p.Arg66Trp)
c.454C>T (p.Arg152Trp)
c.277C>T (p.Arg93Trp)
c.409C>T (p.Arg137Trp)
n.649C>T
 dbSNP gnomAD v2
6g.33432752G>ACA363680702SYNGAP1c.197G>A (p.Arg66Gln)
c.455G>A (p.Arg152Gln)
c.278G>A (p.Arg93Gln)
c.410G>A (p.Arg137Gln)
n.650G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33432752G>CCA363680703SYNGAP1c.197G>C (p.Arg66Pro)
c.455G>C (p.Arg152Pro)
c.278G>C (p.Arg93Pro)
c.410G>C (p.Arg137Pro)
n.650G>C
6g.33432752G=CA1620010201SYNGAP1c.197G= (p.Arg66=)
c.455G= (p.Arg152=)
c.278G= (p.Arg93=)
c.410G= (p.Arg137=)
n.650G=
6g.33432752G>TCA363680700SYNGAP1c.197G>T (p.Arg66Leu)
c.455G>T (p.Arg152Leu)
c.278G>T (p.Arg93Leu)
c.410G>T (p.Arg137Leu)
n.650G>T
 COSMIC COSMIC
6g.33432753dupCA2695202893SYNGAP1c.198dup (p.Thr67AspfsTer15)
c.456dup (p.Thr153AspfsTer15)
c.279dup (p.Thr94AspfsTer15)
c.411dup (p.Thr138AspfsTer15)
n.651dup
6g.33432753G>ACA449860398SYNGAP1c.198G>A (p.Arg66=)
c.456G>A (p.Arg152=)
c.279G>A (p.Arg93=)
c.411G>A (p.Arg137=)
n.651G>A
6g.33432753G>CCA449860400SYNGAP1c.198G>C (p.Arg66=)
c.456G>C (p.Arg152=)
c.279G>C (p.Arg93=)
c.411G>C (p.Arg137=)
n.651G>C
6g.33432753G>TCA449860401SYNGAP1c.198G>T (p.Arg66=)
c.456G>T (p.Arg152=)
c.279G>T (p.Arg93=)
c.411G>T (p.Arg137=)
n.651G>T
6g.33432754delCA2695198816SYNGAP1c.199del (p.Thr67ProfsTer21)
c.457del (p.Thr153ProfsTer21)
c.280del (p.Thr94ProfsTer21)
c.412del (p.Thr138ProfsTer21)
n.652del
 ClinVar
6g.33432754A>CCA363680705SYNGAP1c.199A>C (p.Thr67Pro)
c.457A>C (p.Thr153Pro)
c.280A>C (p.Thr94Pro)
c.412A>C (p.Thr138Pro)
n.652A>C
6g.33432754A>GCA363680707SYNGAP1c.199A>G (p.Thr67Ala)
c.457A>G (p.Thr153Ala)
c.280A>G (p.Thr94Ala)
c.412A>G (p.Thr138Ala)
n.652A>G
6g.33432754A>TCA363680708SYNGAP1c.199A>T (p.Thr67Ser)
c.457A>T (p.Thr153Ser)
c.280A>T (p.Thr94Ser)
c.412A>T (p.Thr138Ser)
n.652A>T
6g.33432755C>ACA137096990SYNGAP1c.200C>A (p.Thr67Asn)
c.458C>A (p.Thr153Asn)
c.281C>A (p.Thr94Asn)
c.413C>A (p.Thr138Asn)
n.653C>A
 ClinVar dbSNP
6g.33432755C=CA1620010202SYNGAP1c.200C= (p.Thr67=)
c.458C= (p.Thr153=)
c.281C= (p.Thr94=)
c.413C= (p.Thr138=)
n.653C=
6g.33432755C>GCA363680710SYNGAP1c.200C>G (p.Thr67Ser)
c.458C>G (p.Thr153Ser)
c.281C>G (p.Thr94Ser)
c.413C>G (p.Thr138Ser)
n.653C>G
6g.33432755C>TCA363680711SYNGAP1c.200C>T (p.Thr67Ile)
c.458C>T (p.Thr153Ile)
c.281C>T (p.Thr94Ile)
c.413C>T (p.Thr138Ile)
n.653C>T
6g.33432756C>ACA449860409SYNGAP1c.201C>A (p.Thr67=)
c.459C>A (p.Thr153=)
c.282C>A (p.Thr94=)
c.414C>A (p.Thr138=)
n.654C>A
6g.33432756C>GCA449860412SYNGAP1c.201C>G (p.Thr67=)
c.459C>G (p.Thr153=)
c.282C>G (p.Thr94=)
c.414C>G (p.Thr138=)
n.654C>G
6g.33432756C>TCA449860410SYNGAP1c.201C>T (p.Thr67=)
c.459C>T (p.Thr153=)
c.282C>T (p.Thr94=)
c.414C>T (p.Thr138=)
n.654C>T
6g.33432757A>CCA363680712SYNGAP1c.202A>C (p.Ser68Arg)
c.460A>C (p.Ser154Arg)
c.283A>C (p.Ser95Arg)
c.415A>C (p.Ser139Arg)
n.655A>C
6g.33432757A>GCA363680716SYNGAP1c.202A>G (p.Ser68Gly)
c.460A>G (p.Ser154Gly)
c.283A>G (p.Ser95Gly)
c.415A>G (p.Ser139Gly)
n.655A>G
6g.33432757A>TCA363680714SYNGAP1c.202A>T (p.Ser68Cys)
c.460A>T (p.Ser154Cys)
c.283A>T (p.Ser95Cys)
c.415A>T (p.Ser139Cys)
n.655A>T
6g.33432758G>ACA363680718SYNGAP1c.203G>A (p.Ser68Asn)
c.461G>A (p.Ser154Asn)
c.284G>A (p.Ser95Asn)
c.416G>A (p.Ser139Asn)
n.656G>A
6g.33432758G>CCA363680720SYNGAP1c.203G>C (p.Ser68Thr)
c.461G>C (p.Ser154Thr)
c.284G>C (p.Ser95Thr)
c.416G>C (p.Ser139Thr)
n.656G>C
6g.33432758G>TCA363680721SYNGAP1c.203G>T (p.Ser68Ile)
c.461G>T (p.Ser154Ile)
c.284G>T (p.Ser95Ile)
c.416G>T (p.Ser139Ile)
n.656G>T
6g.33432759C>ACA363680723SYNGAP1c.204C>A (p.Ser68Arg)
c.462C>A (p.Ser154Arg)
c.285C>A (p.Ser95Arg)
c.417C>A (p.Ser139Arg)
n.657C>A
6g.33432759C>GCA363680725SYNGAP1c.204C>G (p.Ser68Arg)
c.462C>G (p.Ser154Arg)
c.285C>G (p.Ser95Arg)
c.417C>G (p.Ser139Arg)
n.657C>G
6g.33432759C>TCA449860424SYNGAP1c.204C>T (p.Ser68=)
c.462C>T (p.Ser154=)
c.285C>T (p.Ser95=)
c.417C>T (p.Ser139=)
n.657C>T
6g.33432760delCA2695202894SYNGAP1c.205del (p.Ser69AlafsTer19)
c.463del (p.Ser155AlafsTer19)
c.286del (p.Ser96AlafsTer19)
c.418del (p.Ser140AlafsTer19)
n.658del
6g.33432760A>CCA363680728SYNGAP1c.205A>C (p.Ser69Arg)
c.463A>C (p.Ser155Arg)
c.286A>C (p.Ser96Arg)
c.418A>C (p.Ser140Arg)
n.658A>C
6g.33432760A>GCA363680729SYNGAP1c.205A>G (p.Ser69Gly)
c.463A>G (p.Ser155Gly)
c.286A>G (p.Ser96Gly)
c.418A>G (p.Ser140Gly)
n.658A>G
6g.33432760A>TCA363680727SYNGAP1c.205A>T (p.Ser69Cys)
c.463A>T (p.Ser155Cys)
c.286A>T (p.Ser96Cys)
c.418A>T (p.Ser140Cys)
n.658A>T
 COSMIC COSMIC
6g.33432761G>ACA363680732SYNGAP1c.206G>A (p.Ser69Asn)
c.464G>A (p.Ser155Asn)
c.287G>A (p.Ser96Asn)
c.419G>A (p.Ser140Asn)
n.659G>A
6g.33432761G>CCA363680734SYNGAP1c.206G>C (p.Ser69Thr)
c.464G>C (p.Ser155Thr)
c.287G>C (p.Ser96Thr)
c.419G>C (p.Ser140Thr)
n.659G>C
6g.33432761G>TCA363680733SYNGAP1c.206G>T (p.Ser69Ile)
c.464G>T (p.Ser155Ile)
c.287G>T (p.Ser96Ile)
c.419G>T (p.Ser140Ile)
n.659G>T
6g.33432762C>ACA363680737SYNGAP1c.207C>A (p.Ser69Arg)
c.465C>A (p.Ser155Arg)
c.288C>A (p.Ser96Arg)
c.420C>A (p.Ser140Arg)
n.660C>A
6g.33432762C>GCA363680739SYNGAP1c.207C>G (p.Ser69Arg)
c.465C>G (p.Ser155Arg)
c.288C>G (p.Ser96Arg)
c.420C>G (p.Ser140Arg)
n.660C>G
6g.33432762C>TCA449860436SYNGAP1c.207C>T (p.Ser69=)
c.465C>T (p.Ser155=)
c.288C>T (p.Ser96=)
c.420C>T (p.Ser140=)
n.660C>T
6g.33432764_33432776delCA2825001462SYNGAP1c.209_221del (p.Phe70CysfsTer14)
c.467_479del (p.Phe156CysfsTer14)
c.290_302del (p.Phe97CysfsTer14)
c.422_434del (p.Phe141CysfsTer14)
n.662_674del
 ClinVar
6g.33432763T>ACA363680741SYNGAP1c.208T>A (p.Phe70Ile)
c.466T>A (p.Phe156Ile)
c.289T>A (p.Phe97Ile)
c.421T>A (p.Phe141Ile)
n.661T>A
6g.33432763T>CCA363680743SYNGAP1c.208T>C (p.Phe70Leu)
c.466T>C (p.Phe156Leu)
c.289T>C (p.Phe97Leu)
c.421T>C (p.Phe141Leu)
n.661T>C
6g.33432763T>GCA363680744SYNGAP1c.208T>G (p.Phe70Val)
c.466T>G (p.Phe156Val)
c.289T>G (p.Phe97Val)
c.421T>G (p.Phe141Val)
n.661T>G
6g.33432764T>ACA363680745SYNGAP1c.209T>A (p.Phe70Tyr)
c.467T>A (p.Phe156Tyr)
c.290T>A (p.Phe97Tyr)
c.422T>A (p.Phe141Tyr)
n.662T>A
6g.33432764T>CCA363680747SYNGAP1c.209T>C (p.Phe70Ser)
c.467T>C (p.Phe156Ser)
c.290T>C (p.Phe97Ser)
c.422T>C (p.Phe141Ser)
n.662T>C
6g.33432764T>GCA363680749SYNGAP1c.209T>G (p.Phe70Cys)
c.467T>G (p.Phe156Cys)
c.290T>G (p.Phe97Cys)
c.422T>G (p.Phe141Cys)
n.662T>G
 dbSNP
6g.33432764T=CA1620010203SYNGAP1c.209T= (p.Phe70=)
c.467T= (p.Phe156=)
c.290T= (p.Phe97=)
c.422T= (p.Phe141=)
n.662T=
6g.33432765T>ACA363680751SYNGAP1c.210T>A (p.Phe70Leu)
c.468T>A (p.Phe156Leu)
c.291T>A (p.Phe97Leu)
c.423T>A (p.Phe141Leu)
n.663T>A
6g.33432765T>CCA449860445SYNGAP1c.210T>C (p.Phe70=)
c.468T>C (p.Phe156=)
c.291T>C (p.Phe97=)
c.423T>C (p.Phe141=)
n.663T>C
6g.33432765T>GCA363680753SYNGAP1c.210T>G (p.Phe70Leu)
c.468T>G (p.Phe156Leu)
c.291T>G (p.Phe97Leu)
c.423T>G (p.Phe141Leu)
n.663T>G
6g.33432766C>ACA363680758SYNGAP1c.211C>A (p.Arg71Ser)
c.469C>A (p.Arg157Ser)
c.292C>A (p.Arg98Ser)
c.424C>A (p.Arg142Ser)
n.664C>A
6g.33432766C=CA1620010204SYNGAP1c.211C= (p.Arg71=)
c.469C= (p.Arg157=)
c.292C= (p.Arg98=)
c.424C= (p.Arg142=)
n.664C=
6g.33432766C>GCA363680756SYNGAP1c.211C>G (p.Arg71Gly)
c.469C>G (p.Arg157Gly)
c.292C>G (p.Arg98Gly)
c.424C>G (p.Arg142Gly)
n.664C>G
6g.33432766C>TCA3758497SYNGAP1c.211C>T (p.Arg71Cys)
c.469C>T (p.Arg157Cys)
c.292C>T (p.Arg98Cys)
c.424C>T (p.Arg142Cys)
n.664C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33432767G>ACA363680760SYNGAP1c.212G>A (p.Arg71His)
c.470G>A (p.Arg157His)
c.293G>A (p.Arg98His)
c.425G>A (p.Arg142His)
n.665G>A
 ClinVar gnomAD v4
6g.33432767G>CCA363680762SYNGAP1c.212G>C (p.Arg71Pro)
c.470G>C (p.Arg157Pro)
c.293G>C (p.Arg98Pro)
c.425G>C (p.Arg142Pro)
n.665G>C
6g.33432767G>TCA363680764SYNGAP1c.212G>T (p.Arg71Leu)
c.470G>T (p.Arg157Leu)
c.293G>T (p.Arg98Leu)
c.425G>T (p.Arg142Leu)
n.665G>T
6g.33432768C>ACA449860453SYNGAP1c.213C>A (p.Arg71=)
c.471C>A (p.Arg157=)
c.294C>A (p.Arg98=)
c.426C>A (p.Arg142=)
n.666C>A
6g.33432768C>GCA449860455SYNGAP1c.213C>G (p.Arg71=)
c.471C>G (p.Arg157=)
c.294C>G (p.Arg98=)
c.426C>G (p.Arg142=)
n.666C>G
6g.33432768C>TCA449860454SYNGAP1c.213C>T (p.Arg71=)
c.471C>T (p.Arg157=)
c.294C>T (p.Arg98=)
c.426C>T (p.Arg142=)
n.666C>T
6g.33432769C>ACA363680767SYNGAP1c.214C>A (p.Gln72Lys)
c.472C>A (p.Gln158Lys)
c.295C>A (p.Gln99Lys)
c.427C>A (p.Gln143Lys)
n.667C>A
6g.33432769C=CA1620010205SYNGAP1c.214C= (p.Gln72=)
c.472C= (p.Gln158=)
c.295C= (p.Gln99=)
c.427C= (p.Gln143=)
n.667C=
6g.33432769C>GCA363680769SYNGAP1c.214C>G (p.Gln72Glu)
c.472C>G (p.Gln158Glu)
c.295C>G (p.Gln99Glu)
c.427C>G (p.Gln143Glu)
n.667C>G
6g.33432769C>TCA363680770SYNGAP1c.214C>T (p.Gln72Ter)
c.472C>T (p.Gln158Ter)
c.295C>T (p.Gln99Ter)
c.427C>T (p.Gln143Ter)
n.667C>T
 ClinVar dbSNP
6g.33432770A>CCA363680774SYNGAP1c.215A>C (p.Gln72Pro)
c.473A>C (p.Gln158Pro)
c.296A>C (p.Gln99Pro)
c.428A>C (p.Gln143Pro)
n.668A>C
6g.33432770A>GCA363680775SYNGAP1c.215A>G (p.Gln72Arg)
c.473A>G (p.Gln158Arg)
c.296A>G (p.Gln99Arg)
c.428A>G (p.Gln143Arg)
n.668A>G
6g.33432770A>TCA363680776SYNGAP1c.215A>T (p.Gln72Leu)
c.473A>T (p.Gln158Leu)
c.296A>T (p.Gln99Leu)
c.428A>T (p.Gln143Leu)
n.668A>T
6g.33432771G>ACA449860459SYNGAP1c.216G>A (p.Gln72=)
c.474G>A (p.Gln158=)
c.297G>A (p.Gln99=)
c.429G>A (p.Gln143=)
n.669G>A
6g.33432771G>CCA363680779SYNGAP1c.216G>C (p.Gln72His)
c.474G>C (p.Gln158His)
c.297G>C (p.Gln99His)
c.429G>C (p.Gln143His)
n.669G>C
6g.33432771G>TCA363680784SYNGAP1c.216G>T (p.Gln72His)
c.474G>T (p.Gln158His)
c.297G>T (p.Gln99His)
c.429G>T (p.Gln143His)
n.669G>T
6g.33432772A>CCA363680787SYNGAP1c.217A>C (p.Ile73Leu)
c.475A>C (p.Ile159Leu)
c.298A>C (p.Ile100Leu)
c.430A>C (p.Ile144Leu)
n.670A>C
6g.33432772A>GCA363680790SYNGAP1c.217A>G (p.Ile73Val)
c.475A>G (p.Ile159Val)
c.298A>G (p.Ile100Val)
c.430A>G (p.Ile144Val)
n.670A>G
6g.33432772A>TCA363680786SYNGAP1c.217A>T (p.Ile73Phe)
c.475A>T (p.Ile159Phe)
c.298A>T (p.Ile100Phe)
c.430A>T (p.Ile144Phe)
n.670A>T

Number of alleles fetched