Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33446524delCA2578585609SYNGAP1,SYNGAP1-AS1c.3325-51del (n.3325-51del)
c.3583-51del (n.3583-51del)
c.3541-57del (n.3541-57del)
c.3406-51del (n.3406-51del)
c.3538-51del (n.3538-51del)
n.329+84del
 gnomAD v4
6g.33446524G>TCA2678278315SYNGAP1,SYNGAP1-AS1c.3325-51G>T (n.3325-51G>T)
c.3583-51G>T (n.3583-51G>T)
c.3541-57G>T (n.3541-57G>T)
c.3406-51G>T (n.3406-51G>T)
c.3538-51G>T (n.3538-51G>T)
n.329+82C>A
 gnomAD v4
6g.33446525C>ACA2678278318SYNGAP1,SYNGAP1-AS1c.3325-50C>A (n.3325-50C>A)
c.3583-50C>A (n.3583-50C>A)
c.3541-56C>A (n.3541-56C>A)
c.3406-50C>A (n.3406-50C>A)
c.3538-50C>A (n.3538-50C>A)
n.329+81G>T
 gnomAD v4
6g.33446525C>TCA1087662375SYNGAP1,SYNGAP1-AS1c.3325-50C>T (n.3325-50C>T)
c.3583-50C>T (n.3583-50C>T)
c.3541-56C>T (n.3541-56C>T)
c.3406-50C>T (n.3406-50C>T)
c.3538-50C>T (n.3538-50C>T)
n.329+81G>A
 gnomAD v3 gnomAD v4
6g.33446525_33446527delCA2499214071SYNGAP1,SYNGAP1-AS1c.3325-50_3325-48del (n.3325-50_3325-48del)
c.3583-50_3583-48del (n.3583-50_3583-48del)
c.3541-56_3541-54del (n.3541-56_3541-54del)
c.3406-50_3406-48del (n.3406-50_3406-48del)
c.3538-50_3538-48del (n.3538-50_3538-48del)
n.329+79_329+81del
6g.33446526T>CCA2578585610SYNGAP1,SYNGAP1-AS1c.3325-49T>C (n.3325-49T>C)
c.3583-49T>C (n.3583-49T>C)
c.3541-55T>C (n.3541-55T>C)
c.3406-49T>C (n.3406-49T>C)
c.3538-49T>C (n.3538-49T>C)
n.329+80A>G
 gnomAD v4
6g.33446527T>CCA3759066SYNGAP1,SYNGAP1-AS1c.3325-48T>C (n.3325-48T>C)
c.3583-48T>C (n.3583-48T>C)
c.3541-54T>C (n.3541-54T>C)
c.3406-48T>C (n.3406-48T>C)
c.3538-48T>C (n.3538-48T>C)
n.329+79A>G
 dbSNP ExAC gnomAD v2
6g.33446527T>GCA1087662381SYNGAP1,SYNGAP1-AS1c.3325-48T>G (n.3325-48T>G)
c.3583-48T>G (n.3583-48T>G)
c.3541-54T>G (n.3541-54T>G)
c.3406-48T>G (n.3406-48T>G)
c.3538-48T>G (n.3538-48T>G)
n.329+79A>C
 dbSNP gnomAD v3 gnomAD v4
6g.33446527T=CA1620016718SYNGAP1,SYNGAP1-AS1c.3325-48T= (n.3325-48T=)
c.3583-48T= (n.3583-48T=)
c.3541-54T= (n.3541-54T=)
c.3406-48T= (n.3406-48T=)
c.3538-48T= (n.3538-48T=)
n.329+79A=
6g.33446531delCA2578585611SYNGAP1,SYNGAP1-AS1c.3325-44del (n.3325-44del)
c.3583-44del (n.3583-44del)
c.3541-50del (n.3541-50del)
c.3406-44del (n.3406-44del)
c.3538-44del (n.3538-44del)
n.329+78del
6g.33446529G=CA1620016719SYNGAP1,SYNGAP1-AS1c.3325-46G= (n.3325-46G=)
c.3583-46G= (n.3583-46G=)
c.3541-52G= (n.3541-52G=)
c.3406-46G= (n.3406-46G=)
c.3538-46G= (n.3538-46G=)
n.329+77C=
6g.33446529G>TCA566700758SYNGAP1,SYNGAP1-AS1c.3325-46G>T (n.3325-46G>T)
c.3583-46G>T (n.3583-46G>T)
c.3541-52G>T (n.3541-52G>T)
c.3406-46G>T (n.3406-46G>T)
c.3538-46G>T (n.3538-46G>T)
n.329+77C>A
 dbSNP gnomAD v2
6g.33446530G>CCA3759067SYNGAP1,SYNGAP1-AS1c.3325-45G>C (n.3325-45G>C)
c.3583-45G>C (n.3583-45G>C)
c.3541-51G>C (n.3541-51G>C)
c.3406-45G>C (n.3406-45G>C)
c.3538-45G>C (n.3538-45G>C)
n.329+76C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446530G=CA1620016721SYNGAP1,SYNGAP1-AS1c.3325-45G= (n.3325-45G=)
c.3583-45G= (n.3583-45G=)
c.3541-51G= (n.3541-51G=)
c.3406-45G= (n.3406-45G=)
c.3538-45G= (n.3538-45G=)
n.329+76C=
6g.33446530G>TCA2678278333SYNGAP1,SYNGAP1-AS1c.3325-45G>T (n.3325-45G>T)
c.3583-45G>T (n.3583-45G>T)
c.3541-51G>T (n.3541-51G>T)
c.3406-45G>T (n.3406-45G>T)
c.3538-45G>T (n.3538-45G>T)
n.329+76C>A
 gnomAD v4
6g.33446531G>CCA2578585612SYNGAP1,SYNGAP1-AS1c.3325-44G>C (n.3325-44G>C)
c.3583-44G>C (n.3583-44G>C)
c.3541-50G>C (n.3541-50G>C)
c.3406-44G>C (n.3406-44G>C)
c.3538-44G>C (n.3538-44G>C)
n.329+75C>G
6g.33446531G=CA1620016724SYNGAP1,SYNGAP1-AS1c.3325-44G= (n.3325-44G=)
c.3583-44G= (n.3583-44G=)
c.3541-50G= (n.3541-50G=)
c.3406-44G= (n.3406-44G=)
c.3538-44G= (n.3538-44G=)
n.329+75C=
6g.33446531G>TCA566700759SYNGAP1,SYNGAP1-AS1c.3325-44G>T (n.3325-44G>T)
c.3583-44G>T (n.3583-44G>T)
c.3541-50G>T (n.3541-50G>T)
c.3406-44G>T (n.3406-44G>T)
c.3538-44G>T (n.3538-44G>T)
n.329+75C>A
 dbSNP gnomAD v2 gnomAD v4
6g.33446532T>GCA824042855SYNGAP1,SYNGAP1-AS1c.3325-43T>G (n.3325-43T>G)
c.3583-43T>G (n.3583-43T>G)
c.3541-49T>G (n.3541-49T>G)
c.3406-43T>G (n.3406-43T>G)
c.3538-43T>G (n.3538-43T>G)
n.329+74A>C
 dbSNP gnomAD v3 gnomAD v4
6g.33446532T=CA1620016727SYNGAP1,SYNGAP1-AS1c.3325-43T= (n.3325-43T=)
c.3583-43T= (n.3583-43T=)
c.3541-49T= (n.3541-49T=)
c.3406-43T= (n.3406-43T=)
c.3538-43T= (n.3538-43T=)
n.329+74A=
6g.33446532_33446544dupCA566700760SYNGAP1,SYNGAP1-AS1c.3325-43_3325-31dup (n.3325-43_3325-31dup)
c.3583-43_3583-31dup (n.3583-43_3583-31dup)
c.3541-49_3541-37dup (n.3541-49_3541-37dup)
c.3406-43_3406-31dup (n.3406-43_3406-31dup)
c.3538-43_3538-31dup (n.3538-43_3538-31dup)
n.329+62_329+74dup
 dbSNP gnomAD v2 gnomAD v4
6g.33446533G>TCA2578585613SYNGAP1,SYNGAP1-AS1c.3325-42G>T (n.3325-42G>T)
c.3583-42G>T (n.3583-42G>T)
c.3541-48G>T (n.3541-48G>T)
c.3406-42G>T (n.3406-42G>T)
c.3538-42G>T (n.3538-42G>T)
n.329+73C>A
6g.33446536delCA2678278341SYNGAP1,SYNGAP1-AS1c.3325-39del (n.3325-39del)
c.3583-39del (n.3583-39del)
c.3541-45del (n.3541-45del)
c.3406-39del (n.3406-39del)
c.3538-39del (n.3538-39del)
n.329+73del
 gnomAD v4
6g.33446534G>ACA566700761SYNGAP1,SYNGAP1-AS1c.3325-41G>A (n.3325-41G>A)
c.3583-41G>A (n.3583-41G>A)
c.3541-47G>A (n.3541-47G>A)
c.3406-41G>A (n.3406-41G>A)
c.3538-41G>A (n.3538-41G>A)
n.329+72C>T
 dbSNP gnomAD v2
6g.33446534G=CA1620016729SYNGAP1,SYNGAP1-AS1c.3325-41G= (n.3325-41G=)
c.3583-41G= (n.3583-41G=)
c.3541-47G= (n.3541-47G=)
c.3406-41G= (n.3406-41G=)
c.3538-41G= (n.3538-41G=)
n.329+72C=
6g.33446535G>ACA3759069SYNGAP1,SYNGAP1-AS1c.3325-40G>A (n.3325-40G>A)
c.3583-40G>A (n.3583-40G>A)
c.3541-46G>A (n.3541-46G>A)
c.3406-40G>A (n.3406-40G>A)
c.3538-40G>A (n.3538-40G>A)
n.329+71C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33446535G>CCA3759068SYNGAP1,SYNGAP1-AS1c.3325-40G>C (n.3325-40G>C)
c.3583-40G>C (n.3583-40G>C)
c.3541-46G>C (n.3541-46G>C)
c.3406-40G>C (n.3406-40G>C)
c.3538-40G>C (n.3538-40G>C)
n.329+71C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33446535G=CA1620016732SYNGAP1,SYNGAP1-AS1c.3325-40G= (n.3325-40G=)
c.3583-40G= (n.3583-40G=)
c.3541-46G= (n.3541-46G=)
c.3406-40G= (n.3406-40G=)
c.3538-40G= (n.3538-40G=)
n.329+71C=
6g.33446535G>TCA2569738587SYNGAP1,SYNGAP1-AS1c.3325-40G>T (n.3325-40G>T)
c.3583-40G>T (n.3583-40G>T)
c.3541-46G>T (n.3541-46G>T)
c.3406-40G>T (n.3406-40G>T)
c.3538-40G>T (n.3538-40G>T)
n.329+71C>A
6g.33446536G>ACA566700762SYNGAP1,SYNGAP1-AS1c.3325-39G>A (n.3325-39G>A)
c.3583-39G>A (n.3583-39G>A)
c.3541-45G>A (n.3541-45G>A)
c.3406-39G>A (n.3406-39G>A)
c.3538-39G>A (n.3538-39G>A)
n.329+70C>T
 dbSNP gnomAD v2 gnomAD v4
6g.33446536G=CA1620016735SYNGAP1,SYNGAP1-AS1c.3325-39G= (n.3325-39G=)
c.3583-39G= (n.3583-39G=)
c.3541-45G= (n.3541-45G=)
c.3406-39G= (n.3406-39G=)
c.3538-39G= (n.3538-39G=)
n.329+70C=
6g.33446537C>ACA2578585614SYNGAP1,SYNGAP1-AS1c.3325-38C>A (n.3325-38C>A)
c.3583-38C>A (n.3583-38C>A)
c.3541-44C>A (n.3541-44C>A)
c.3406-38C>A (n.3406-38C>A)
c.3538-38C>A (n.3538-38C>A)
n.329+69G>T
6g.33446537C=CA1620016737SYNGAP1,SYNGAP1-AS1c.3325-38C= (n.3325-38C=)
c.3583-38C= (n.3583-38C=)
c.3541-44C= (n.3541-44C=)
c.3406-38C= (n.3406-38C=)
c.3538-38C= (n.3538-38C=)
n.329+69G=
6g.33446537C>TCA3759070SYNGAP1,SYNGAP1-AS1c.3325-38C>T (n.3325-38C>T)
c.3583-38C>T (n.3583-38C>T)
c.3541-44C>T (n.3541-44C>T)
c.3406-38C>T (n.3406-38C>T)
c.3538-38C>T (n.3538-38C>T)
n.329+69G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33446538G>ACA3759071SYNGAP1,SYNGAP1-AS1c.3325-37G>A (n.3325-37G>A)
c.3583-37G>A (n.3583-37G>A)
c.3541-43G>A (n.3541-43G>A)
c.3406-37G>A (n.3406-37G>A)
c.3538-37G>A (n.3538-37G>A)
n.329+68C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446538G=CA1620016739SYNGAP1,SYNGAP1-AS1c.3325-37G= (n.3325-37G=)
c.3583-37G= (n.3583-37G=)
c.3541-43G= (n.3541-43G=)
c.3406-37G= (n.3406-37G=)
c.3538-37G= (n.3538-37G=)
n.329+68C=
6g.33446539C>ACA566700763SYNGAP1,SYNGAP1-AS1c.3325-36C>A (n.3325-36C>A)
c.3583-36C>A (n.3583-36C>A)
c.3541-42C>A (n.3541-42C>A)
c.3406-36C>A (n.3406-36C>A)
c.3538-36C>A (n.3538-36C>A)
n.329+67G>T
 dbSNP gnomAD v2 gnomAD v4
6g.33446539C=CA1620016740SYNGAP1,SYNGAP1-AS1c.3325-36C= (n.3325-36C=)
c.3583-36C= (n.3583-36C=)
c.3541-42C= (n.3541-42C=)
c.3406-36C= (n.3406-36C=)
c.3538-36C= (n.3538-36C=)
n.329+67G=
6g.33446540C>ACA2678278358SYNGAP1,SYNGAP1-AS1c.3325-35C>A (n.3325-35C>A)
c.3583-35C>A (n.3583-35C>A)
c.3541-41C>A (n.3541-41C>A)
c.3406-35C>A (n.3406-35C>A)
c.3538-35C>A (n.3538-35C>A)
n.329+66G>T
 gnomAD v4
6g.33446540C=CA1620016742SYNGAP1,SYNGAP1-AS1c.3325-35C= (n.3325-35C=)
c.3583-35C= (n.3583-35C=)
c.3541-41C= (n.3541-41C=)
c.3406-35C= (n.3406-35C=)
c.3538-35C= (n.3538-35C=)
n.329+66G=
6g.33446540C>TCA824042865SYNGAP1,SYNGAP1-AS1c.3325-35C>T (n.3325-35C>T)
c.3583-35C>T (n.3583-35C>T)
c.3541-41C>T (n.3541-41C>T)
c.3406-35C>T (n.3406-35C>T)
c.3538-35C>T (n.3538-35C>T)
n.329+66G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33446544C=CA1620016744SYNGAP1,SYNGAP1-AS1c.3325-31C= (n.3325-31C=)
c.3583-31C= (n.3583-31C=)
c.3541-37C= (n.3541-37C=)
c.3406-31C= (n.3406-31C=)
c.3538-31C= (n.3538-31C=)
n.329+62G=
6g.33446544_33446546delinsCATCA1620016745SYNGAP1,SYNGAP1-AS1c.3325-31_3325-29delinsCAT (n.3325-31_3325-29delinsCAT)
c.3583-31_3583-29delinsCAT (n.3583-31_3583-29delinsCAT)
c.3541-37_3541-35delinsCAT (n.3541-37_3541-35delinsCAT)
c.3406-31_3406-29delinsCAT (n.3406-31_3406-29delinsCAT)
c.3538-31_3538-29delinsCAT (n.3538-31_3538-29delinsCAT)
n.329+60_329+62delinsATG
6g.33446545A>GCA2678278361SYNGAP1,SYNGAP1-AS1c.3325-30A>G (n.3325-30A>G)
c.3583-30A>G (n.3583-30A>G)
c.3541-36A>G (n.3541-36A>G)
c.3406-30A>G (n.3406-30A>G)
c.3538-30A>G (n.3538-30A>G)
n.329+61T>C
 gnomAD v4
6g.33446545dupCA824042870SYNGAP1,SYNGAP1-AS1c.3325-30dup (n.3325-30dup)
c.3583-30dup (n.3583-30dup)
c.3541-36dup (n.3541-36dup)
c.3406-30dup (n.3406-30dup)
c.3538-30dup (n.3538-30dup)
n.329+61dup
 dbSNP gnomAD v3 gnomAD v4
6g.33446546_33446547delCA566700764SYNGAP1,SYNGAP1-AS1c.3325-29_3325-28del (n.3325-29_3325-28del)
c.3583-29_3583-28del (n.3583-29_3583-28del)
c.3541-35_3541-34del (n.3541-35_3541-34del)
c.3406-29_3406-28del (n.3406-29_3406-28del)
c.3538-29_3538-28del (n.3538-29_3538-28del)
n.329+60_329+61del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33446546T>CCA3759072SYNGAP1,SYNGAP1-AS1c.3325-29T>C (n.3325-29T>C)
c.3583-29T>C (n.3583-29T>C)
c.3541-35T>C (n.3541-35T>C)
c.3406-29T>C (n.3406-29T>C)
c.3538-29T>C (n.3538-29T>C)
n.329+60A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446546T=CA1620016748SYNGAP1,SYNGAP1-AS1c.3325-29T= (n.3325-29T=)
c.3583-29T= (n.3583-29T=)
c.3541-35T= (n.3541-35T=)
c.3406-29T= (n.3406-29T=)
c.3538-29T= (n.3538-29T=)
n.329+60A=
6g.33446547A=CA1620016751SYNGAP1,SYNGAP1-AS1c.3325-28A= (n.3325-28A=)
c.3583-28A= (n.3583-28A=)
c.3541-34A= (n.3541-34A=)
c.3406-28A= (n.3406-28A=)
c.3538-28A= (n.3538-28A=)
n.329+59T=
6g.33446547A>GCA1620016750SYNGAP1,SYNGAP1-AS1c.3325-28A>G (n.3325-28A>G)
c.3583-28A>G (n.3583-28A>G)
c.3541-34A>G (n.3541-34A>G)
c.3406-28A>G (n.3406-28A>G)
c.3538-28A>G (n.3538-28A>G)
n.329+59T>C
 dbSNP
6g.33446549T>ACA566700765SYNGAP1,SYNGAP1-AS1c.3325-26T>A (n.3325-26T>A)
c.3583-26T>A (n.3583-26T>A)
c.3541-32T>A (n.3541-32T>A)
c.3406-26T>A (n.3406-26T>A)
c.3538-26T>A (n.3538-26T>A)
n.329+57A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33446549T>CCA2578585615SYNGAP1,SYNGAP1-AS1c.3325-26T>C (n.3325-26T>C)
c.3583-26T>C (n.3583-26T>C)
c.3541-32T>C (n.3541-32T>C)
c.3406-26T>C (n.3406-26T>C)
c.3538-26T>C (n.3538-26T>C)
n.329+57A>G
 gnomAD v4
6g.33446549T>GCA2678278365SYNGAP1,SYNGAP1-AS1c.3325-26T>G (n.3325-26T>G)
c.3583-26T>G (n.3583-26T>G)
c.3541-32T>G (n.3541-32T>G)
c.3406-26T>G (n.3406-26T>G)
c.3538-26T>G (n.3538-26T>G)
n.329+57A>C
 gnomAD v4
6g.33446549T=CA1620016753SYNGAP1,SYNGAP1-AS1c.3325-26T= (n.3325-26T=)
c.3583-26T= (n.3583-26T=)
c.3541-32T= (n.3541-32T=)
c.3406-26T= (n.3406-26T=)
c.3538-26T= (n.3538-26T=)
n.329+57A=
6g.33446550G>ACA1620016756SYNGAP1,SYNGAP1-AS1c.3325-25G>A (n.3325-25G>A)
c.3583-25G>A (n.3583-25G>A)
c.3541-31G>A (n.3541-31G>A)
c.3406-25G>A (n.3406-25G>A)
c.3538-25G>A (n.3538-25G>A)
n.329+56C>T
 dbSNP gnomAD v4
6g.33446550G=CA1620016754SYNGAP1,SYNGAP1-AS1c.3325-25G= (n.3325-25G=)
c.3583-25G= (n.3583-25G=)
c.3541-31G= (n.3541-31G=)
c.3406-25G= (n.3406-25G=)
c.3538-25G= (n.3538-25G=)
n.329+56C=
6g.33446551C=CA1620016758SYNGAP1,SYNGAP1-AS1c.3325-24C= (n.3325-24C=)
c.3583-24C= (n.3583-24C=)
c.3541-30C= (n.3541-30C=)
c.3406-24C= (n.3406-24C=)
c.3538-24C= (n.3538-24C=)
n.329+55G=
6g.33446551C>GCA2678278368SYNGAP1,SYNGAP1-AS1c.3325-24C>G (n.3325-24C>G)
c.3583-24C>G (n.3583-24C>G)
c.3541-30C>G (n.3541-30C>G)
c.3406-24C>G (n.3406-24C>G)
c.3538-24C>G (n.3538-24C>G)
n.329+55G>C
 gnomAD v4
6g.33446551C>TCA566700766SYNGAP1,SYNGAP1-AS1c.3325-24C>T (n.3325-24C>T)
c.3583-24C>T (n.3583-24C>T)
c.3541-30C>T (n.3541-30C>T)
c.3406-24C>T (n.3406-24C>T)
c.3538-24C>T (n.3538-24C>T)
n.329+55G>A
 dbSNP gnomAD v2 gnomAD v4
6g.33446552G>ACA2578585616SYNGAP1,SYNGAP1-AS1c.3325-23G>A (n.3325-23G>A)
c.3583-23G>A (n.3583-23G>A)
c.3541-29G>A (n.3541-29G>A)
c.3406-23G>A (n.3406-23G>A)
c.3538-23G>A (n.3538-23G>A)
n.329+54C>T
 gnomAD v4
6g.33446555G>TCA2678278371SYNGAP1,SYNGAP1-AS1c.3325-20G>T (n.3325-20G>T)
c.3583-20G>T (n.3583-20G>T)
c.3541-26G>T (n.3541-26G>T)
c.3406-20G>T (n.3406-20G>T)
c.3538-20G>T (n.3538-20G>T)
n.329+51C>A
 gnomAD v4
6g.33446557C>ACA2578585617SYNGAP1,SYNGAP1-AS1c.3325-18C>A (n.3325-18C>A)
c.3583-18C>A (n.3583-18C>A)
c.3541-24C>A (n.3541-24C>A)
c.3406-18C>A (n.3406-18C>A)
c.3538-18C>A (n.3538-18C>A)
n.329+49G>T
6g.33446557C=CA1620016760SYNGAP1,SYNGAP1-AS1c.3325-18C= (n.3325-18C=)
c.3583-18C= (n.3583-18C=)
c.3541-24C= (n.3541-24C=)
c.3406-18C= (n.3406-18C=)
c.3538-18C= (n.3538-18C=)
n.329+49G=
6g.33446557C>TCA566700767SYNGAP1,SYNGAP1-AS1c.3325-18C>T (n.3325-18C>T)
c.3583-18C>T (n.3583-18C>T)
c.3541-24C>T (n.3541-24C>T)
c.3406-18C>T (n.3406-18C>T)
c.3538-18C>T (n.3538-18C>T)
n.329+49G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33446558G>ACA3759073SYNGAP1,SYNGAP1-AS1c.3325-17G>A (n.3325-17G>A)
c.3583-17G>A (n.3583-17G>A)
c.3541-23G>A (n.3541-23G>A)
c.3406-17G>A (n.3406-17G>A)
c.3538-17G>A (n.3538-17G>A)
n.329+48C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446558G=CA1620016762SYNGAP1,SYNGAP1-AS1c.3325-17G= (n.3325-17G=)
c.3583-17G= (n.3583-17G=)
c.3541-23G= (n.3541-23G=)
c.3406-17G= (n.3406-17G=)
c.3538-17G= (n.3538-17G=)
n.329+48C=
6g.33446558G>TCA566700768SYNGAP1,SYNGAP1-AS1c.3325-17G>T (n.3325-17G>T)
c.3583-17G>T (n.3583-17G>T)
c.3541-23G>T (n.3541-23G>T)
c.3406-17G>T (n.3406-17G>T)
c.3538-17G>T (n.3538-17G>T)
n.329+48C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33446562G>TCA2770567405SYNGAP1,SYNGAP1-AS1c.3325-13G>T (n.3325-13G>T)
c.3583-13G>T (n.3583-13G>T)
c.3541-19G>T (n.3541-19G>T)
c.3406-13G>T (n.3406-13G>T)
c.3538-13G>T (n.3538-13G>T)
n.329+44C>A
6g.33446563C=CA1620016765SYNGAP1,SYNGAP1-AS1c.3325-12C= (n.3325-12C=)
c.3583-12C= (n.3583-12C=)
c.3541-18C= (n.3541-18C=)
c.3406-12C= (n.3406-12C=)
c.3538-12C= (n.3538-12C=)
n.329+43G=
6g.33446563C>TCA3759074SYNGAP1,SYNGAP1-AS1c.3325-12C>T (n.3325-12C>T)
c.3583-12C>T (n.3583-12C>T)
c.3541-18C>T (n.3541-18C>T)
c.3406-12C>T (n.3406-12C>T)
c.3538-12C>T (n.3538-12C>T)
n.329+43G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.33446565C=CA1620016769SYNGAP1,SYNGAP1-AS1c.3325-10C= (n.3325-10C=)
c.3583-10C= (n.3583-10C=)
c.3541-16C= (n.3541-16C=)
c.3406-10C= (n.3406-10C=)
c.3538-10C= (n.3538-10C=)
n.329+41G=
6g.33446565C>TCA566700769SYNGAP1,SYNGAP1-AS1c.3325-10C>T (n.3325-10C>T)
c.3583-10C>T (n.3583-10C>T)
c.3541-16C>T (n.3541-16C>T)
c.3406-10C>T (n.3406-10C>T)
c.3538-10C>T (n.3538-10C>T)
n.329+41G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.33446566G>ACA658796751SYNGAP1,SYNGAP1-AS1c.3325-9G>A (n.3325-9G>A)
c.3583-9G>A (n.3583-9G>A)
c.3541-15G>A (n.3541-15G>A)
c.3406-9G>A (n.3406-9G>A)
c.3538-9G>A (n.3538-9G>A)
n.329+40C>T
 ClinVar dbSNP
6g.33446566G=CA1620016772SYNGAP1,SYNGAP1-AS1c.3325-9G= (n.3325-9G=)
c.3583-9G= (n.3583-9G=)
c.3541-15G= (n.3541-15G=)
c.3406-9G= (n.3406-9G=)
c.3538-9G= (n.3538-9G=)
n.329+40C=
6g.33446567G>CCA2578585618SYNGAP1,SYNGAP1-AS1c.3325-8G>C (n.3325-8G>C)
c.3583-8G>C (n.3583-8G>C)
c.3541-14G>C (n.3541-14G>C)
c.3406-8G>C (n.3406-8G>C)
c.3538-8G>C (n.3538-8G>C)
n.329+39C>G
6g.33446568C>ACA2770567407SYNGAP1,SYNGAP1-AS1c.3325-7C>A (n.3325-7C>A)
c.3583-7C>A (n.3583-7C>A)
c.3541-13C>A (n.3541-13C>A)
c.3406-7C>A (n.3406-7C>A)
c.3538-7C>A (n.3538-7C>A)
n.329+38G>T
6g.33446568C=CA1620016775SYNGAP1,SYNGAP1-AS1c.3325-7C= (n.3325-7C=)
c.3583-7C= (n.3583-7C=)
c.3541-13C= (n.3541-13C=)
c.3406-7C= (n.3406-7C=)
c.3538-7C= (n.3538-7C=)
n.329+38G=
6g.33446568C>GCA2578585619SYNGAP1,SYNGAP1-AS1c.3325-7C>G (n.3325-7C>G)
c.3583-7C>G (n.3583-7C>G)
c.3541-13C>G (n.3541-13C>G)
c.3406-7C>G (n.3406-7C>G)
c.3538-7C>G (n.3538-7C>G)
n.329+38G>C
6g.33446568C>TCA3759075SYNGAP1,SYNGAP1-AS1c.3325-7C>T (n.3325-7C>T)
c.3583-7C>T (n.3583-7C>T)
c.3541-13C>T (n.3541-13C>T)
c.3406-7C>T (n.3406-7C>T)
c.3538-7C>T (n.3538-7C>T)
n.329+38G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446569G>ACA354198SYNGAP1,SYNGAP1-AS1c.3325-6G>A (n.3325-6G>A)
c.3583-6G>A (n.3583-6G>A)
c.3541-12G>A (n.3541-12G>A)
c.3406-6G>A (n.3406-6G>A)
c.3538-6G>A (n.3538-6G>A)
n.329+37C>T
 ClinVar dbSNP gnomAD v4
6g.33446569G>CCA566700770SYNGAP1,SYNGAP1-AS1c.3325-6G>C (n.3325-6G>C)
c.3583-6G>C (n.3583-6G>C)
c.3541-12G>C (n.3541-12G>C)
c.3406-6G>C (n.3406-6G>C)
c.3538-6G>C (n.3538-6G>C)
n.329+37C>G
 dbSNP gnomAD v2 gnomAD v4
6g.33446569G=CA1620016780SYNGAP1,SYNGAP1-AS1c.3325-6G= (n.3325-6G=)
c.3583-6G= (n.3583-6G=)
c.3541-12G= (n.3541-12G=)
c.3406-6G= (n.3406-6G=)
c.3538-6G= (n.3538-6G=)
n.329+37C=
6g.33446569G>TCA2678278391SYNGAP1,SYNGAP1-AS1c.3325-6G>T (n.3325-6G>T)
c.3583-6G>T (n.3583-6G>T)
c.3541-12G>T (n.3541-12G>T)
c.3406-6G>T (n.3406-6G>T)
c.3538-6G>T (n.3538-6G>T)
n.329+37C>A
 gnomAD v4
6g.33446570G>TCA2578585620SYNGAP1,SYNGAP1-AS1c.3325-5G>T (n.3325-5G>T)
c.3583-5G>T (n.3583-5G>T)
c.3541-11G>T (n.3541-11G>T)
c.3406-5G>T (n.3406-5G>T)
c.3538-5G>T (n.3538-5G>T)
n.329+36C>A
6g.33446571G>ACA1087662402SYNGAP1,SYNGAP1-AS1c.3325-4G>A (n.3325-4G>A)
c.3583-4G>A (n.3583-4G>A)
c.3541-10G>A (n.3541-10G>A)
c.3406-4G>A (n.3406-4G>A)
c.3538-4G>A (n.3538-4G>A)
n.329+35C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33446571G=CA1620016783SYNGAP1,SYNGAP1-AS1c.3325-4G= (n.3325-4G=)
c.3583-4G= (n.3583-4G=)
c.3541-10G= (n.3541-10G=)
c.3406-4G= (n.3406-4G=)
c.3538-4G= (n.3538-4G=)
n.329+35C=
6g.33446572C=CA1620016784SYNGAP1,SYNGAP1-AS1c.3325-3C= (n.3325-3C=)
c.3583-3C= (n.3583-3C=)
c.3541-9C= (n.3541-9C=)
c.3406-3C= (n.3406-3C=)
c.3538-3C= (n.3538-3C=)
n.329+34G=
6g.33446572C>TCA3759076SYNGAP1,SYNGAP1-AS1c.3325-3C>T (n.3325-3C>T)
c.3583-3C>T (n.3583-3C>T)
c.3541-9C>T (n.3541-9C>T)
c.3406-3C>T (n.3406-3C>T)
c.3538-3C>T (n.3538-3C>T)
n.329+34G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446573A>CCA363636763SYNGAP1,SYNGAP1-AS1c.3325-2A>C (n.3325-2A>C)
c.3583-2A>C (n.3583-2A>C)
c.3541-8A>C (n.3541-8A>C)
c.3406-2A>C (n.3406-2A>C)
c.3538-2A>C (n.3538-2A>C)
n.329+33T>G
6g.33446573A>GCA363636765SYNGAP1,SYNGAP1-AS1c.3325-2A>G (n.3325-2A>G)
c.3583-2A>G (n.3583-2A>G)
c.3541-8A>G (n.3541-8A>G)
c.3406-2A>G (n.3406-2A>G)
c.3538-2A>G (n.3538-2A>G)
n.329+33T>C
6g.33446573A>TCA363636767SYNGAP1,SYNGAP1-AS1c.3325-2A>T (n.3325-2A>T)
c.3583-2A>T (n.3583-2A>T)
c.3541-8A>T (n.3541-8A>T)
c.3406-2A>T (n.3406-2A>T)
c.3538-2A>T (n.3538-2A>T)
n.329+33T>A
6g.33446574G>ACA363636769SYNGAP1,SYNGAP1-AS1c.3325-1G>A (n.3325-1G>A)
c.3583-1G>A (n.3583-1G>A)
c.3541-7G>A (n.3541-7G>A)
c.3406-1G>A (n.3406-1G>A)
c.3538-1G>A (n.3538-1G>A)
n.329+32C>T
6g.33446574G>CCA363636771SYNGAP1,SYNGAP1-AS1c.3325-1G>C (n.3325-1G>C)
c.3583-1G>C (n.3583-1G>C)
c.3541-7G>C (n.3541-7G>C)
c.3406-1G>C (n.3406-1G>C)
c.3538-1G>C (n.3538-1G>C)
n.329+32C>G
6g.33446574G>TCA363636772SYNGAP1,SYNGAP1-AS1c.3325-1G>T (n.3325-1G>T)
c.3583-1G>T (n.3583-1G>T)
c.3541-7G>T (n.3541-7G>T)
c.3406-1G>T (n.3406-1G>T)
c.3538-1G>T (n.3538-1G>T)
n.329+32C>A
6g.33446575G>ACA363636774SYNGAP1,SYNGAP1-AS1c.3325G>A (p.Val1109Met)
c.3583G>A (p.Val1195Met)
c.3541-6G>A (n.3541-6G>A)
c.3406G>A (p.Val1136Met)
c.3538G>A (p.Val1180Met)
n.329+31C>T
6g.33446575G>CCA363636779SYNGAP1,SYNGAP1-AS1c.3325G>C (p.Val1109Leu)
c.3583G>C (p.Val1195Leu)
c.3541-6G>C (n.3541-6G>C)
c.3406G>C (p.Val1136Leu)
c.3538G>C (p.Val1180Leu)
n.329+31C>G
6g.33446575G>TCA363636780SYNGAP1,SYNGAP1-AS1c.3325G>T (p.Val1109Leu)
c.3583G>T (p.Val1195Leu)
c.3541-6G>T (n.3541-6G>T)
c.3406G>T (p.Val1136Leu)
c.3538G>T (p.Val1180Leu)
n.329+31C>A
6g.33446576T>ACA363636782SYNGAP1,SYNGAP1-AS1c.3326T>A (p.Val1109Glu)
c.3584T>A (p.Val1195Glu)
c.3541-5T>A (n.3541-5T>A)
c.3407T>A (p.Val1136Glu)
c.3539T>A (p.Val1180Glu)
n.329+30A>T
6g.33446576T>CCA363636784SYNGAP1,SYNGAP1-AS1c.3326T>C (p.Val1109Ala)
c.3584T>C (p.Val1195Ala)
c.3541-5T>C (n.3541-5T>C)
c.3407T>C (p.Val1136Ala)
c.3539T>C (p.Val1180Ala)
n.329+30A>G
6g.33446576T>GCA363636785SYNGAP1,SYNGAP1-AS1c.3326T>G (p.Val1109Gly)
c.3584T>G (p.Val1195Gly)
c.3541-5T>G (n.3541-5T>G)
c.3407T>G (p.Val1136Gly)
c.3539T>G (p.Val1180Gly)
n.329+30A>C
6g.33446577G>ACA449839599SYNGAP1,SYNGAP1-AS1c.3327G>A (p.Val1109=)
c.3585G>A (p.Val1195=)
c.3541-4G>A (n.3541-4G>A)
c.3408G>A (p.Val1136=)
c.3540G>A (p.Val1180=)
n.329+29C>T
 dbSNP gnomAD v3 gnomAD v4
6g.33446577G>CCA449839601SYNGAP1,SYNGAP1-AS1c.3327G>C (p.Val1109=)
c.3585G>C (p.Val1195=)
c.3541-4G>C (n.3541-4G>C)
c.3408G>C (p.Val1136=)
c.3540G>C (p.Val1180=)
n.329+29C>G
6g.33446577G=CA1620016790SYNGAP1,SYNGAP1-AS1c.3327G= (p.Val1109=)
c.3585G= (p.Val1195=)
c.3541-4G= (n.3541-4G=)
c.3408G= (p.Val1136=)
c.3540G= (p.Val1180=)
n.329+29C=
6g.33446577G>TCA449839602SYNGAP1,SYNGAP1-AS1c.3327G>T (p.Val1109=)
c.3585G>T (p.Val1195=)
c.3541-4G>T (n.3541-4G>T)
c.3408G>T (p.Val1136=)
c.3540G>T (p.Val1180=)
n.329+29C>A
6g.33446578A=CA1620016794SYNGAP1,SYNGAP1-AS1c.3328A= (p.Lys1110=)
c.3586A= (p.Lys1196=)
c.3541-3A= (n.3541-3A=)
c.3409A= (p.Lys1137=)
c.3541A= (p.Lys1181=)
n.329+28T=
6g.33446578A>CCA363636789SYNGAP1,SYNGAP1-AS1c.3328A>C (p.Lys1110Gln)
c.3586A>C (p.Lys1196Gln)
c.3541-3A>C (n.3541-3A>C)
c.3409A>C (p.Lys1137Gln)
c.3541A>C (p.Lys1181Gln)
n.329+28T>G
6g.33446578A>GCA363636791SYNGAP1,SYNGAP1-AS1c.3328A>G (p.Lys1110Glu)
c.3586A>G (p.Lys1196Glu)
c.3541-3A>G (n.3541-3A>G)
c.3409A>G (p.Lys1137Glu)
c.3541A>G (p.Lys1181Glu)
n.329+28T>C
6g.33446578A>TCA363636787SYNGAP1,SYNGAP1-AS1c.3328A>T (p.Lys1110Ter)
c.3586A>T (p.Lys1196Ter)
c.3541-3A>T (n.3541-3A>T)
c.3409A>T (p.Lys1137Ter)
c.3541A>T (p.Lys1181Ter)
n.329+28T>A
 dbSNP
6g.33446579dupCA1139659352SYNGAP1,SYNGAP1-AS1c.3329dup (p.Glu1111GlyfsTer24)
c.3587dup (p.Glu1197GlyfsTer24)
c.3541-2dup (n.3541-2dup)
c.3410dup (p.Glu1138GlyfsTer24)
c.3542dup (p.Glu1182GlyfsTer24)
n.329+28dup
 ClinVar dbSNP
6g.33446579A>CCA363636795SYNGAP1,SYNGAP1-AS1c.3329A>C (p.Lys1110Thr)
c.3587A>C (p.Lys1196Thr)
c.3541-2A>C (n.3541-2A>C)
c.3410A>C (p.Lys1137Thr)
c.3542A>C (p.Lys1181Thr)
n.329+27T>G
6g.33446579A>GCA363636792SYNGAP1,SYNGAP1-AS1c.3329A>G (p.Lys1110Arg)
c.3587A>G (p.Lys1196Arg)
c.3541-2A>G (n.3541-2A>G)
c.3410A>G (p.Lys1137Arg)
c.3542A>G (p.Lys1181Arg)
n.329+27T>C
6g.33446579A>TCA363636797SYNGAP1,SYNGAP1-AS1c.3329A>T (p.Lys1110Met)
c.3587A>T (p.Lys1196Met)
c.3541-2A>T (n.3541-2A>T)
c.3410A>T (p.Lys1137Met)
c.3542A>T (p.Lys1181Met)
n.329+27T>A
6g.33446580G>ACA363636798SYNGAP1,SYNGAP1-AS1c.3330G>A (p.Lys1110=)
c.3588G>A (p.Lys1196=)
c.3541-1G>A (n.3541-1G>A)
c.3411G>A (p.Lys1137=)
c.3543G>A (p.Lys1181=)
n.329+26C>T
6g.33446580G>CCA363636801SYNGAP1,SYNGAP1-AS1c.3330G>C (p.Lys1110Asn)
c.3588G>C (p.Lys1196Asn)
c.3541-1G>C (n.3541-1G>C)
c.3411G>C (p.Lys1137Asn)
c.3543G>C (p.Lys1181Asn)
n.329+26C>G
6g.33446580G>TCA363636799SYNGAP1,SYNGAP1-AS1c.3330G>T (p.Lys1110Asn)
c.3588G>T (p.Lys1196Asn)
c.3541-1G>T (n.3541-1G>T)
c.3411G>T (p.Lys1137Asn)
c.3543G>T (p.Lys1181Asn)
n.329+26C>A
6g.33446581G>ACA363636804SYNGAP1,SYNGAP1-AS1c.3331G>A (p.Glu1111Lys)
c.3589G>A (p.Glu1197Lys)
c.3541G>A (p.Glu1181Lys)
c.3412G>A (p.Glu1138Lys)
c.3544G>A (p.Glu1182Lys)
n.329+25C>T
6g.33446581G>CCA363636805SYNGAP1,SYNGAP1-AS1c.3331G>C (p.Glu1111Gln)
c.3589G>C (p.Glu1197Gln)
c.3541G>C (p.Glu1181Gln)
c.3412G>C (p.Glu1138Gln)
c.3544G>C (p.Glu1182Gln)
n.329+25C>G
6g.33446581G=CA1620016797SYNGAP1,SYNGAP1-AS1c.3331G= (p.Glu1111=)
c.3589G= (p.Glu1197=)
c.3541G= (p.Glu1181=)
c.3412G= (p.Glu1138=)
c.3544G= (p.Glu1182=)
n.329+25C=
6g.33446581G>TCA363636806SYNGAP1,SYNGAP1-AS1c.3331G>T (p.Glu1111Ter)
c.3589G>T (p.Glu1197Ter)
c.3541G>T (p.Glu1181Ter)
c.3412G>T (p.Glu1138Ter)
c.3544G>T (p.Glu1182Ter)
n.329+25C>A
 dbSNP
6g.33446582A>CCA363636808SYNGAP1,SYNGAP1-AS1c.3332A>C (p.Glu1111Ala)
c.3590A>C (p.Glu1197Ala)
c.3542A>C (p.Glu1181Ala)
c.3413A>C (p.Glu1138Ala)
c.3545A>C (p.Glu1182Ala)
n.329+24T>G
6g.33446582A>GCA363636810SYNGAP1,SYNGAP1-AS1c.3332A>G (p.Glu1111Gly)
c.3590A>G (p.Glu1197Gly)
c.3542A>G (p.Glu1181Gly)
c.3413A>G (p.Glu1138Gly)
c.3545A>G (p.Glu1182Gly)
n.329+24T>C
6g.33446582A>TCA363636812SYNGAP1,SYNGAP1-AS1c.3332A>T (p.Glu1111Val)
c.3590A>T (p.Glu1197Val)
c.3542A>T (p.Glu1181Val)
c.3413A>T (p.Glu1138Val)
c.3545A>T (p.Glu1182Val)
n.329+24T>A
6g.33446583G>ACA449839611SYNGAP1,SYNGAP1-AS1c.3333G>A (p.Glu1111=)
c.3591G>A (p.Glu1197=)
c.3543G>A (p.Glu1181=)
c.3414G>A (p.Glu1138=)
c.3546G>A (p.Glu1182=)
n.329+23C>T
6g.33446583G>CCA363636813SYNGAP1,SYNGAP1-AS1c.3333G>C (p.Glu1111Asp)
c.3591G>C (p.Glu1197Asp)
c.3543G>C (p.Glu1181Asp)
c.3414G>C (p.Glu1138Asp)
c.3546G>C (p.Glu1182Asp)
n.329+23C>G
6g.33446583G>TCA363636815SYNGAP1,SYNGAP1-AS1c.3333G>T (p.Glu1111Asp)
c.3591G>T (p.Glu1197Asp)
c.3543G>T (p.Glu1181Asp)
c.3414G>T (p.Glu1138Asp)
c.3546G>T (p.Glu1182Asp)
n.329+23C>A
6g.33446583_33446584delinsGTCA1620016801SYNGAP1,SYNGAP1-AS1c.3333_3334delinsGT (p.Glu1111=)
c.3591_3592delinsGT (p.Glu1197=)
c.3543_3544delinsGT (p.Glu1181=)
c.3414_3415delinsGT (p.Glu1138=)
c.3546_3547delinsGT (p.Glu1182=)
n.329+22_329+23delinsAC
6g.33446584delCA207942SYNGAP1,SYNGAP1-AS1c.3334del (p.Tyr1112ThrfsTer8)
c.3592del (p.Tyr1198ThrfsTer8)
c.3544del (p.Tyr1182ThrfsTer8)
c.3415del (p.Tyr1139ThrfsTer8)
c.3547del (p.Tyr1183ThrfsTer8)
n.329+22del
 ClinVar dbSNP
6g.33446584T>ACA363636818SYNGAP1,SYNGAP1-AS1c.3334T>A (p.Tyr1112Asn)
c.3592T>A (p.Tyr1198Asn)
c.3544T>A (p.Tyr1182Asn)
c.3415T>A (p.Tyr1139Asn)
c.3547T>A (p.Tyr1183Asn)
n.329+22A>T
6g.33446584T>CCA363636819SYNGAP1,SYNGAP1-AS1c.3334T>C (p.Tyr1112His)
c.3592T>C (p.Tyr1198His)
c.3544T>C (p.Tyr1182His)
c.3415T>C (p.Tyr1139His)
c.3547T>C (p.Tyr1183His)
n.329+22A>G
6g.33446584T>GCA363636820SYNGAP1,SYNGAP1-AS1c.3334T>G (p.Tyr1112Asp)
c.3592T>G (p.Tyr1198Asp)
c.3544T>G (p.Tyr1182Asp)
c.3415T>G (p.Tyr1139Asp)
c.3547T>G (p.Tyr1183Asp)
n.329+22A>C
6g.33446585A>CCA363636826SYNGAP1,SYNGAP1-AS1c.3335A>C (p.Tyr1112Ser)
c.3593A>C (p.Tyr1198Ser)
c.3545A>C (p.Tyr1182Ser)
c.3416A>C (p.Tyr1139Ser)
c.3548A>C (p.Tyr1183Ser)
n.329+21T>G
6g.33446585A>GCA363636823SYNGAP1,SYNGAP1-AS1c.3335A>G (p.Tyr1112Cys)
c.3593A>G (p.Tyr1198Cys)
c.3545A>G (p.Tyr1182Cys)
c.3416A>G (p.Tyr1139Cys)
c.3548A>G (p.Tyr1183Cys)
n.329+21T>C
6g.33446585A>TCA363636825SYNGAP1,SYNGAP1-AS1c.3335A>T (p.Tyr1112Phe)
c.3593A>T (p.Tyr1198Phe)
c.3545A>T (p.Tyr1182Phe)
c.3416A>T (p.Tyr1139Phe)
c.3548A>T (p.Tyr1183Phe)
n.329+21T>A
6g.33446586C>ACA363636830SYNGAP1,SYNGAP1-AS1c.3336C>A (p.Tyr1112Ter)
c.3594C>A (p.Tyr1198Ter)
c.3546C>A (p.Tyr1182Ter)
c.3417C>A (p.Tyr1139Ter)
c.3549C>A (p.Tyr1183Ter)
n.329+20G>T
6g.33446586C=CA1620016809SYNGAP1,SYNGAP1-AS1c.3336C= (p.Tyr1112=)
c.3594C= (p.Tyr1198=)
c.3546C= (p.Tyr1182=)
c.3417C= (p.Tyr1139=)
c.3549C= (p.Tyr1183=)
n.329+20G=
6g.33446586C>GCA363636833SYNGAP1,SYNGAP1-AS1c.3336C>G (p.Tyr1112Ter)
c.3594C>G (p.Tyr1198Ter)
c.3546C>G (p.Tyr1182Ter)
c.3417C>G (p.Tyr1139Ter)
c.3549C>G (p.Tyr1183Ter)
n.329+20G>C
 ClinVar dbSNP
6g.33446586C>TCA137075350SYNGAP1,SYNGAP1-AS1c.3336C>T (p.Tyr1112=)
c.3594C>T (p.Tyr1198=)
c.3546C>T (p.Tyr1182=)
c.3417C>T (p.Tyr1139=)
c.3549C>T (p.Tyr1183=)
n.329+20G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.33446587G>ACA3759077SYNGAP1,SYNGAP1-AS1c.3337G>A (p.Glu1113Lys)
c.3595G>A (p.Glu1199Lys)
c.3547G>A (p.Glu1183Lys)
c.3418G>A (p.Glu1140Lys)
c.3550G>A (p.Glu1184Lys)
n.329+19C>T
 ClinVar dbSNP ExAC gnomAD v4
6g.33446587G>CCA363636838SYNGAP1,SYNGAP1-AS1c.3337G>C (p.Glu1113Gln)
c.3595G>C (p.Glu1199Gln)
c.3547G>C (p.Glu1183Gln)
c.3418G>C (p.Glu1140Gln)
c.3550G>C (p.Glu1184Gln)
n.329+19C>G
6g.33446587G=CA1620016812SYNGAP1,SYNGAP1-AS1c.3337G= (p.Glu1113=)
c.3595G= (p.Glu1199=)
c.3547G= (p.Glu1183=)
c.3418G= (p.Glu1140=)
c.3550G= (p.Glu1184=)
n.329+19C=
6g.33446587G>TCA363636840SYNGAP1,SYNGAP1-AS1c.3337G>T (p.Glu1113Ter)
c.3595G>T (p.Glu1199Ter)
c.3547G>T (p.Glu1183Ter)
c.3418G>T (p.Glu1140Ter)
c.3550G>T (p.Glu1184Ter)
n.329+19C>A
 dbSNP
6g.33446588A>CCA363636844SYNGAP1,SYNGAP1-AS1c.3338A>C (p.Glu1113Ala)
c.3596A>C (p.Glu1199Ala)
c.3548A>C (p.Glu1183Ala)
c.3419A>C (p.Glu1140Ala)
c.3551A>C (p.Glu1184Ala)
n.329+18T>G
6g.33446588A>GCA363636847SYNGAP1,SYNGAP1-AS1c.3338A>G (p.Glu1113Gly)
c.3596A>G (p.Glu1199Gly)
c.3548A>G (p.Glu1183Gly)
c.3419A>G (p.Glu1140Gly)
c.3551A>G (p.Glu1184Gly)
n.329+18T>C
6g.33446588A>TCA363636848SYNGAP1,SYNGAP1-AS1c.3338A>T (p.Glu1113Val)
c.3596A>T (p.Glu1199Val)
c.3548A>T (p.Glu1183Val)
c.3419A>T (p.Glu1140Val)
c.3551A>T (p.Glu1184Val)
n.329+18T>A
6g.33446589G>ACA449839613SYNGAP1,SYNGAP1-AS1c.3339G>A (p.Glu1113=)
c.3597G>A (p.Glu1199=)
c.3549G>A (p.Glu1183=)
c.3420G>A (p.Glu1140=)
c.3552G>A (p.Glu1184=)
n.329+17C>T
6g.33446589G>CCA363636849SYNGAP1,SYNGAP1-AS1c.3339G>C (p.Glu1113Asp)
c.3597G>C (p.Glu1199Asp)
c.3549G>C (p.Glu1183Asp)
c.3420G>C (p.Glu1140Asp)
c.3552G>C (p.Glu1184Asp)
n.329+17C>G
6g.33446589G>TCA363636850SYNGAP1,SYNGAP1-AS1c.3339G>T (p.Glu1113Asp)
c.3597G>T (p.Glu1199Asp)
c.3549G>T (p.Glu1183Asp)
c.3420G>T (p.Glu1140Asp)
c.3552G>T (p.Glu1184Asp)
n.329+17C>A
6g.33446590G>ACA363636854SYNGAP1,SYNGAP1-AS1c.3340G>A (p.Glu1114Lys)
c.3598G>A (p.Glu1200Lys)
c.3550G>A (p.Glu1184Lys)
c.3421G>A (p.Glu1141Lys)
c.3553G>A (p.Glu1185Lys)
n.329+16C>T
6g.33446590G>CCA363636852SYNGAP1,SYNGAP1-AS1c.3340G>C (p.Glu1114Gln)
c.3598G>C (p.Glu1200Gln)
c.3550G>C (p.Glu1184Gln)
c.3421G>C (p.Glu1141Gln)
c.3553G>C (p.Glu1185Gln)
n.329+16C>G
6g.33446590G=CA1620016815SYNGAP1,SYNGAP1-AS1c.3340G= (p.Glu1114=)
c.3598G= (p.Glu1200=)
c.3550G= (p.Glu1184=)
c.3421G= (p.Glu1141=)
c.3553G= (p.Glu1185=)
n.329+16C=
6g.33446590G>TCA363636851SYNGAP1,SYNGAP1-AS1c.3340G>T (p.Glu1114Ter)
c.3598G>T (p.Glu1200Ter)
c.3550G>T (p.Glu1184Ter)
c.3421G>T (p.Glu1141Ter)
c.3553G>T (p.Glu1185Ter)
n.329+16C>A
 dbSNP
6g.33446591A>CCA363636855SYNGAP1,SYNGAP1-AS1c.3341A>C (p.Glu1114Ala)
c.3599A>C (p.Glu1200Ala)
c.3551A>C (p.Glu1184Ala)
c.3422A>C (p.Glu1141Ala)
c.3554A>C (p.Glu1185Ala)
n.329+15T>G
6g.33446591A>GCA363636858SYNGAP1,SYNGAP1-AS1c.3341A>G (p.Glu1114Gly)
c.3599A>G (p.Glu1200Gly)
c.3551A>G (p.Glu1184Gly)
c.3422A>G (p.Glu1141Gly)
c.3554A>G (p.Glu1185Gly)
n.329+15T>C
6g.33446591A>TCA363636859SYNGAP1,SYNGAP1-AS1c.3341A>T (p.Glu1114Val)
c.3599A>T (p.Glu1200Val)
c.3551A>T (p.Glu1184Val)
c.3422A>T (p.Glu1141Val)
c.3554A>T (p.Glu1185Val)
n.329+15T>A
6g.33446591dupCA915944227SYNGAP1,SYNGAP1-AS1c.3341dup (p.Glu1115GlyfsTer20)
c.3599dup (p.Glu1201GlyfsTer20)
c.3551dup (p.Glu1185GlyfsTer20)
c.3422dup (p.Glu1142GlyfsTer20)
c.3554dup (p.Glu1186GlyfsTer20)
n.329+15dup
 ClinVar dbSNP
6g.33446592G>ACA449839614SYNGAP1,SYNGAP1-AS1c.3342G>A (p.Glu1114=)
c.3600G>A (p.Glu1200=)
c.3552G>A (p.Glu1184=)
c.3423G>A (p.Glu1141=)
c.3555G>A (p.Glu1185=)
n.329+14C>T
6g.33446592G>CCA363636862SYNGAP1,SYNGAP1-AS1c.3342G>C (p.Glu1114Asp)
c.3600G>C (p.Glu1200Asp)
c.3552G>C (p.Glu1184Asp)
c.3423G>C (p.Glu1141Asp)
c.3555G>C (p.Glu1185Asp)
n.329+14C>G
6g.33446592G>TCA363636863SYNGAP1,SYNGAP1-AS1c.3342G>T (p.Glu1114Asp)
c.3600G>T (p.Glu1200Asp)
c.3552G>T (p.Glu1184Asp)
c.3423G>T (p.Glu1141Asp)
c.3555G>T (p.Glu1185Asp)
n.329+14C>A
6g.33446593G>ACA363636868SYNGAP1,SYNGAP1-AS1c.3343G>A (p.Glu1115Lys)
c.3601G>A (p.Glu1201Lys)
c.3553G>A (p.Glu1185Lys)
c.3424G>A (p.Glu1142Lys)
c.3556G>A (p.Glu1186Lys)
n.329+13C>T
6g.33446593G>CCA363636871SYNGAP1,SYNGAP1-AS1c.3343G>C (p.Glu1115Gln)
c.3601G>C (p.Glu1201Gln)
c.3553G>C (p.Glu1185Gln)
c.3424G>C (p.Glu1142Gln)
c.3556G>C (p.Glu1186Gln)
n.329+13C>G
6g.33446593G=CA1620016821SYNGAP1,SYNGAP1-AS1c.3343G= (p.Glu1115=)
c.3601G= (p.Glu1201=)
c.3553G= (p.Glu1185=)
c.3424G= (p.Glu1142=)
c.3556G= (p.Glu1186=)
n.329+13C=
6g.33446593G>TCA363636872SYNGAP1,SYNGAP1-AS1c.3343G>T (p.Glu1115Ter)
c.3601G>T (p.Glu1201Ter)
c.3553G>T (p.Glu1185Ter)
c.3424G>T (p.Glu1142Ter)
c.3556G>T (p.Glu1186Ter)
n.329+13C>A
 dbSNP
6g.33446594A>CCA363636874SYNGAP1,SYNGAP1-AS1c.3344A>C (p.Glu1115Ala)
c.3602A>C (p.Glu1201Ala)
c.3554A>C (p.Glu1185Ala)
c.3425A>C (p.Glu1142Ala)
c.3557A>C (p.Glu1186Ala)
n.329+12T>G
6g.33446594A>GCA363636875SYNGAP1,SYNGAP1-AS1c.3344A>G (p.Glu1115Gly)
c.3602A>G (p.Glu1201Gly)
c.3554A>G (p.Glu1185Gly)
c.3425A>G (p.Glu1142Gly)
c.3557A>G (p.Glu1186Gly)
n.329+12T>C
6g.33446594A>TCA363636878SYNGAP1,SYNGAP1-AS1c.3344A>T (p.Glu1115Val)
c.3602A>T (p.Glu1201Val)
c.3554A>T (p.Glu1185Val)
c.3425A>T (p.Glu1142Val)
c.3557A>T (p.Glu1186Val)
n.329+12T>A
6g.33446595G>ACA3759078SYNGAP1,SYNGAP1-AS1c.3345G>A (p.Glu1115=)
c.3603G>A (p.Glu1201=)
c.3555G>A (p.Glu1185=)
c.3426G>A (p.Glu1142=)
c.3558G>A (p.Glu1186=)
n.329+11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446595G>CCA363636882SYNGAP1,SYNGAP1-AS1c.3345G>C (p.Glu1115Asp)
c.3603G>C (p.Glu1201Asp)
c.3555G>C (p.Glu1185Asp)
c.3426G>C (p.Glu1142Asp)
c.3558G>C (p.Glu1186Asp)
n.329+11C>G
6g.33446595G=CA1620016825SYNGAP1,SYNGAP1-AS1c.3345G= (p.Glu1115=)
c.3603G= (p.Glu1201=)
c.3555G= (p.Glu1185=)
c.3426G= (p.Glu1142=)
c.3558G= (p.Glu1186=)
n.329+11C=
6g.33446595G>TCA363636880SYNGAP1,SYNGAP1-AS1c.3345G>T (p.Glu1115Asp)
c.3603G>T (p.Glu1201Asp)
c.3555G>T (p.Glu1185Asp)
c.3426G>T (p.Glu1142Asp)
c.3558G>T (p.Glu1186Asp)
n.329+11C>A
6g.33446596A>CCA363636888SYNGAP1,SYNGAP1-AS1c.3346A>C (p.Ile1116Leu)
c.3604A>C (p.Ile1202Leu)
c.3556A>C (p.Ile1186Leu)
c.3427A>C (p.Ile1143Leu)
c.3559A>C (p.Ile1187Leu)
n.329+10T>G
6g.33446596A>GCA363636889SYNGAP1,SYNGAP1-AS1c.3346A>G (p.Ile1116Val)
c.3604A>G (p.Ile1202Val)
c.3556A>G (p.Ile1186Val)
c.3427A>G (p.Ile1143Val)
c.3559A>G (p.Ile1187Val)
n.329+10T>C
6g.33446596A>TCA363636892SYNGAP1,SYNGAP1-AS1c.3346A>T (p.Ile1116Phe)
c.3604A>T (p.Ile1202Phe)
c.3556A>T (p.Ile1186Phe)
c.3427A>T (p.Ile1143Phe)
c.3559A>T (p.Ile1187Phe)
n.329+10T>A
6g.33446596_33446597delinsATCA1620016828SYNGAP1,SYNGAP1-AS1c.3346_3347delinsAT (p.Ile1116=)
c.3604_3605delinsAT (p.Ile1202=)
c.3556_3557delinsAT (p.Ile1186=)
c.3427_3428delinsAT (p.Ile1143=)
c.3559_3560delinsAT (p.Ile1187=)
n.329+9_329+10delinsAT
6g.33446597T>ACA363636894SYNGAP1,SYNGAP1-AS1c.3347T>A (p.Ile1116Asn)
c.3605T>A (p.Ile1202Asn)
c.3557T>A (p.Ile1186Asn)
c.3428T>A (p.Ile1143Asn)
c.3560T>A (p.Ile1187Asn)
n.329+9A>T
6g.33446597T>CCA363636896SYNGAP1,SYNGAP1-AS1c.3347T>C (p.Ile1116Thr)
c.3605T>C (p.Ile1202Thr)
c.3557T>C (p.Ile1186Thr)
c.3428T>C (p.Ile1143Thr)
c.3560T>C (p.Ile1187Thr)
n.329+9A>G
6g.33446597T>GCA363636897SYNGAP1,SYNGAP1-AS1c.3347T>G (p.Ile1116Ser)
c.3605T>G (p.Ile1202Ser)
c.3557T>G (p.Ile1186Ser)
c.3428T>G (p.Ile1143Ser)
c.3560T>G (p.Ile1187Ser)
n.329+9A>C
6g.33446598delCA1139659353SYNGAP1,SYNGAP1-AS1c.3348del (p.His1117ThrfsTer3)
c.3606del (p.His1203ThrfsTer3)
c.3558del (p.His1187ThrfsTer3)
c.3429del (p.His1144ThrfsTer3)
c.3561del (p.His1188ThrfsTer3)
n.329+9del
 ClinVar dbSNP
6g.33446598T>ACA449839615SYNGAP1,SYNGAP1-AS1c.3348T>A (p.Ile1116=)
c.3606T>A (p.Ile1202=)
c.3558T>A (p.Ile1186=)
c.3429T>A (p.Ile1143=)
c.3561T>A (p.Ile1187=)
n.329+8A>T
6g.33446598T>CCA449839616SYNGAP1,SYNGAP1-AS1c.3348T>C (p.Ile1116=)
c.3606T>C (p.Ile1202=)
c.3558T>C (p.Ile1186=)
c.3429T>C (p.Ile1143=)
c.3561T>C (p.Ile1187=)
n.329+8A>G
6g.33446598T>GCA363636898SYNGAP1,SYNGAP1-AS1c.3348T>G (p.Ile1116Met)
c.3606T>G (p.Ile1202Met)
c.3558T>G (p.Ile1186Met)
c.3429T>G (p.Ile1143Met)
c.3561T>G (p.Ile1187Met)
n.329+8A>C
6g.33446599C>ACA363636901SYNGAP1,SYNGAP1-AS1c.3349C>A (p.His1117Asn)
c.3607C>A (p.His1203Asn)
c.3559C>A (p.His1187Asn)
c.3430C>A (p.His1144Asn)
c.3562C>A (p.His1188Asn)
n.329+7G>T
6g.33446599C=CA1620016837SYNGAP1,SYNGAP1-AS1c.3349C= (p.His1117=)
c.3607C= (p.His1203=)
c.3559C= (p.His1187=)
c.3430C= (p.His1144=)
c.3562C= (p.His1188=)
n.329+7G=
6g.33446599C>GCA363636904SYNGAP1,SYNGAP1-AS1c.3349C>G (p.His1117Asp)
c.3607C>G (p.His1203Asp)
c.3559C>G (p.His1187Asp)
c.3430C>G (p.His1144Asp)
c.3562C>G (p.His1188Asp)
n.329+7G>C
 ClinVar dbSNP
6g.33446599C>TCA363636906SYNGAP1,SYNGAP1-AS1c.3349C>T (p.His1117Tyr)
c.3607C>T (p.His1203Tyr)
c.3559C>T (p.His1187Tyr)
c.3430C>T (p.His1144Tyr)
c.3562C>T (p.His1188Tyr)
n.329+7G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33446600A>CCA363636909SYNGAP1,SYNGAP1-AS1c.3350A>C (p.His1117Pro)
c.3608A>C (p.His1203Pro)
c.3560A>C (p.His1187Pro)
c.3431A>C (p.His1144Pro)
c.3563A>C (p.His1188Pro)
n.329+6T>G
6g.33446600A>GCA363636910SYNGAP1,SYNGAP1-AS1c.3350A>G (p.His1117Arg)
c.3608A>G (p.His1203Arg)
c.3560A>G (p.His1187Arg)
c.3431A>G (p.His1144Arg)
c.3563A>G (p.His1188Arg)
n.329+6T>C
6g.33446600A>TCA363636912SYNGAP1,SYNGAP1-AS1c.3350A>T (p.His1117Leu)
c.3608A>T (p.His1203Leu)
c.3560A>T (p.His1187Leu)
c.3431A>T (p.His1144Leu)
c.3563A>T (p.His1188Leu)
n.329+6T>A
6g.33446601C>ACA363636917SYNGAP1,SYNGAP1-AS1c.3351C>A (p.His1117Gln)
c.3609C>A (p.His1203Gln)
c.3561C>A (p.His1187Gln)
c.3432C>A (p.His1144Gln)
c.3564C>A (p.His1188Gln)
n.329+5G>T
6g.33446601C>GCA363636914SYNGAP1,SYNGAP1-AS1c.3351C>G (p.His1117Gln)
c.3609C>G (p.His1203Gln)
c.3561C>G (p.His1187Gln)
c.3432C>G (p.His1144Gln)
c.3564C>G (p.His1188Gln)
n.329+5G>C
6g.33446601C>TCA449839617SYNGAP1,SYNGAP1-AS1c.3351C>T (p.His1117=)
c.3609C>T (p.His1203=)
c.3561C>T (p.His1187=)
c.3432C>T (p.His1144=)
c.3564C>T (p.His1188=)
n.329+5G>A
 gnomAD v4
6g.33446602T>ACA363636921SYNGAP1,SYNGAP1-AS1c.3352T>A (p.Ser1118Thr)
c.3610T>A (p.Ser1204Thr)
c.3562T>A (p.Ser1188Thr)
c.3433T>A (p.Ser1145Thr)
c.3565T>A (p.Ser1189Thr)
n.329+4A>T
6g.33446602T>CCA363636926SYNGAP1,SYNGAP1-AS1c.3352T>C (p.Ser1118Pro)
c.3610T>C (p.Ser1204Pro)
c.3562T>C (p.Ser1188Pro)
c.3433T>C (p.Ser1145Pro)
c.3565T>C (p.Ser1189Pro)
n.329+4A>G
6g.33446602T>GCA363636924SYNGAP1,SYNGAP1-AS1c.3352T>G (p.Ser1118Ala)
c.3610T>G (p.Ser1204Ala)
c.3562T>G (p.Ser1188Ala)
c.3433T>G (p.Ser1145Ala)
c.3565T>G (p.Ser1189Ala)
n.329+4A>C
6g.33446603C>ACA363636929SYNGAP1,SYNGAP1-AS1c.3353C>A (p.Ser1118Ter)
c.3611C>A (p.Ser1204Ter)
c.3563C>A (p.Ser1188Ter)
c.3434C>A (p.Ser1145Ter)
c.3566C>A (p.Ser1189Ter)
n.329+3G>T
6g.33446603C>GCA363636932SYNGAP1,SYNGAP1-AS1c.3353C>G (p.Ser1118Ter)
c.3611C>G (p.Ser1204Ter)
c.3563C>G (p.Ser1188Ter)
c.3434C>G (p.Ser1145Ter)
c.3566C>G (p.Ser1189Ter)
n.329+3G>C
6g.33446603C>TCA363636934SYNGAP1,SYNGAP1-AS1c.3353C>T (p.Ser1118Leu)
c.3611C>T (p.Ser1204Leu)
c.3563C>T (p.Ser1188Leu)
c.3434C>T (p.Ser1145Leu)
c.3566C>T (p.Ser1189Leu)
n.329+3G>A
 gnomAD v4
6g.33446604A>CCA449839618SYNGAP1,SYNGAP1-AS1c.3354A>C (p.Ser1118=)
c.3612A>C (p.Ser1204=)
c.3564A>C (p.Ser1188=)
c.3435A>C (p.Ser1145=)
c.3567A>C (p.Ser1189=)
n.329+2T>G
6g.33446604A>GCA449839619SYNGAP1,SYNGAP1-AS1c.3354A>G (p.Ser1118=)
c.3612A>G (p.Ser1204=)
c.3564A>G (p.Ser1188=)
c.3435A>G (p.Ser1145=)
c.3567A>G (p.Ser1189=)
n.329+2T>C
6g.33446604A>TCA449839620SYNGAP1,SYNGAP1-AS1c.3354A>T (p.Ser1118=)
c.3612A>T (p.Ser1204=)
c.3564A>T (p.Ser1188=)
c.3435A>T (p.Ser1145=)
c.3567A>T (p.Ser1189=)
n.329+2T>A
6g.33446605C>ACA363636935SYNGAP1,SYNGAP1-AS1c.3355C>A (p.Leu1119Met)
c.3613C>A (p.Leu1205Met)
c.3565C>A (p.Leu1189Met)
c.3436C>A (p.Leu1146Met)
c.3568C>A (p.Leu1190Met)
n.329+1G>T
6g.33446605C>GCA363636937SYNGAP1,SYNGAP1-AS1c.3355C>G (p.Leu1119Val)
c.3613C>G (p.Leu1205Val)
c.3565C>G (p.Leu1189Val)
c.3436C>G (p.Leu1146Val)
c.3568C>G (p.Leu1190Val)
n.329+1G>C
6g.33446605C>TCA449839621SYNGAP1,SYNGAP1-AS1c.3355C>T (p.Leu1119=)
c.3613C>T (p.Leu1205=)
c.3565C>T (p.Leu1189=)
c.3436C>T (p.Leu1146=)
c.3568C>T (p.Leu1190=)
n.329+1G>A
6g.33446606T>ACA363636939SYNGAP1,SYNGAP1-AS1c.3356T>A (p.Leu1119Gln)
c.3614T>A (p.Leu1205Gln)
c.3566T>A (p.Leu1189Gln)
c.3437T>A (p.Leu1146Gln)
c.3569T>A (p.Leu1190Gln)
n.329A>T
6g.33446606T>CCA363636941SYNGAP1,SYNGAP1-AS1c.3356T>C (p.Leu1119Pro)
c.3614T>C (p.Leu1205Pro)
c.3566T>C (p.Leu1189Pro)
c.3437T>C (p.Leu1146Pro)
c.3569T>C (p.Leu1190Pro)
n.329A>G
6g.33446606T>GCA363636944SYNGAP1,SYNGAP1-AS1c.3356T>G (p.Leu1119Arg)
c.3614T>G (p.Leu1205Arg)
c.3566T>G (p.Leu1189Arg)
c.3437T>G (p.Leu1146Arg)
c.3569T>G (p.Leu1190Arg)
n.329A>C
6g.33446607G>ACA449839622SYNGAP1,SYNGAP1-AS1c.3357G>A (p.Leu1119=)
c.3615G>A (p.Leu1205=)
c.3567G>A (p.Leu1189=)
c.3438G>A (p.Leu1146=)
c.3570G>A (p.Leu1190=)
n.328C>T
 gnomAD v4
6g.33446607G>CCA449839623SYNGAP1,SYNGAP1-AS1c.3357G>C (p.Leu1119=)
c.3615G>C (p.Leu1205=)
c.3567G>C (p.Leu1189=)
c.3438G>C (p.Leu1146=)
c.3570G>C (p.Leu1190=)
n.328C>G
6g.33446607G>TCA449839624SYNGAP1,SYNGAP1-AS1c.3357G>T (p.Leu1119=)
c.3615G>T (p.Leu1205=)
c.3567G>T (p.Leu1189=)
c.3438G>T (p.Leu1146=)
c.3570G>T (p.Leu1190=)
n.328C>A
6g.33446608A=CA1620016840SYNGAP1,SYNGAP1-AS1c.3358A= (p.Lys1120=)
c.3616A= (p.Lys1206=)
c.3568A= (p.Lys1190=)
c.3439A= (p.Lys1147=)
c.3571A= (p.Lys1191=)
n.327T=
6g.33446608A>CCA363636947SYNGAP1,SYNGAP1-AS1c.3358A>C (p.Lys1120Gln)
c.3616A>C (p.Lys1206Gln)
c.3568A>C (p.Lys1190Gln)
c.3439A>C (p.Lys1147Gln)
c.3571A>C (p.Lys1191Gln)
n.327T>G
6g.33446608A>GCA363636949SYNGAP1,SYNGAP1-AS1c.3358A>G (p.Lys1120Glu)
c.3616A>G (p.Lys1206Glu)
c.3568A>G (p.Lys1190Glu)
c.3439A>G (p.Lys1147Glu)
c.3571A>G (p.Lys1191Glu)
n.327T>C
6g.33446608A>TCA363636951SYNGAP1,SYNGAP1-AS1c.3358A>T (p.Lys1120Ter)
c.3616A>T (p.Lys1206Ter)
c.3568A>T (p.Lys1190Ter)
c.3439A>T (p.Lys1147Ter)
c.3571A>T (p.Lys1191Ter)
n.327T>A
 dbSNP
6g.33446610dupCA2695206229SYNGAP1,SYNGAP1-AS1c.3360dup (p.Glu1121ArgfsTer14)
c.3618dup (p.Glu1207ArgfsTer14)
c.3570dup (p.Glu1191ArgfsTer14)
c.3441dup (p.Glu1148ArgfsTer14)
c.3573dup (p.Glu1192ArgfsTer14)
n.327dup
6g.33446609A>CCA363636958SYNGAP1,SYNGAP1-AS1c.3359A>C (p.Lys1120Thr)
c.3617A>C (p.Lys1206Thr)
c.3569A>C (p.Lys1190Thr)
c.3440A>C (p.Lys1147Thr)
c.3572A>C (p.Lys1191Thr)
n.326T>G
6g.33446609A>GCA363636956SYNGAP1,SYNGAP1-AS1c.3359A>G (p.Lys1120Arg)
c.3617A>G (p.Lys1206Arg)
c.3569A>G (p.Lys1190Arg)
c.3440A>G (p.Lys1147Arg)
c.3572A>G (p.Lys1191Arg)
n.326T>C
6g.33446609A>TCA363636953SYNGAP1,SYNGAP1-AS1c.3359A>T (p.Lys1120Ile)
c.3617A>T (p.Lys1206Ile)
c.3569A>T (p.Lys1190Ile)
c.3440A>T (p.Lys1147Ile)
c.3572A>T (p.Lys1191Ile)
n.326T>A
6g.33446610A=CA1620016844SYNGAP1,SYNGAP1-AS1c.3360A= (p.Lys1120=)
c.3618A= (p.Lys1206=)
c.3570A= (p.Lys1190=)
c.3441A= (p.Lys1147=)
c.3573A= (p.Lys1191=)
n.325T=
6g.33446610A>CCA363636960SYNGAP1,SYNGAP1-AS1c.3360A>C (p.Lys1120Asn)
c.3618A>C (p.Lys1206Asn)
c.3570A>C (p.Lys1190Asn)
c.3441A>C (p.Lys1147Asn)
c.3573A>C (p.Lys1191Asn)
n.325T>G
6g.33446610A>GCA449839625SYNGAP1,SYNGAP1-AS1c.3360A>G (p.Lys1120=)
c.3618A>G (p.Lys1206=)
c.3570A>G (p.Lys1190=)
c.3441A>G (p.Lys1147=)
c.3573A>G (p.Lys1191=)
n.325T>C
 dbSNP
6g.33446610A>TCA363636963SYNGAP1,SYNGAP1-AS1c.3360A>T (p.Lys1120Asn)
c.3618A>T (p.Lys1206Asn)
c.3570A>T (p.Lys1190Asn)
c.3441A>T (p.Lys1147Asn)
c.3573A>T (p.Lys1191Asn)
n.325T>A
6g.33446611G>ACA363636965SYNGAP1,SYNGAP1-AS1c.3361G>A (p.Glu1121Lys)
c.3619G>A (p.Glu1207Lys)
c.3571G>A (p.Glu1191Lys)
c.3442G>A (p.Glu1148Lys)
c.3574G>A (p.Glu1192Lys)
n.324C>T
6g.33446611G>CCA363636968SYNGAP1,SYNGAP1-AS1c.3361G>C (p.Glu1121Gln)
c.3619G>C (p.Glu1207Gln)
c.3571G>C (p.Glu1191Gln)
c.3442G>C (p.Glu1148Gln)
c.3574G>C (p.Glu1192Gln)
n.324C>G
6g.33446611G=CA1620016846SYNGAP1,SYNGAP1-AS1c.3361G= (p.Glu1121=)
c.3619G= (p.Glu1207=)
c.3571G= (p.Glu1191=)
c.3442G= (p.Glu1148=)
c.3574G= (p.Glu1192=)
n.324C=
6g.33446611G>TCA363636970SYNGAP1,SYNGAP1-AS1c.3361G>T (p.Glu1121Ter)
c.3619G>T (p.Glu1207Ter)
c.3571G>T (p.Glu1191Ter)
c.3442G>T (p.Glu1148Ter)
c.3574G>T (p.Glu1192Ter)
n.324C>A
 dbSNP
6g.33446612A>CCA363636973SYNGAP1,SYNGAP1-AS1c.3362A>C (p.Glu1121Ala)
c.3620A>C (p.Glu1207Ala)
c.3572A>C (p.Glu1191Ala)
c.3443A>C (p.Glu1148Ala)
c.3575A>C (p.Glu1192Ala)
n.323T>G
6g.33446612A>GCA363636975SYNGAP1,SYNGAP1-AS1c.3362A>G (p.Glu1121Gly)
c.3620A>G (p.Glu1207Gly)
c.3572A>G (p.Glu1191Gly)
c.3443A>G (p.Glu1148Gly)
c.3575A>G (p.Glu1192Gly)
n.323T>C
6g.33446612A>TCA363636979SYNGAP1,SYNGAP1-AS1c.3362A>T (p.Glu1121Val)
c.3620A>T (p.Glu1207Val)
c.3572A>T (p.Glu1191Val)
c.3443A>T (p.Glu1148Val)
c.3575A>T (p.Glu1192Val)
n.323T>A
6g.33446613G>ACA449839626SYNGAP1,SYNGAP1-AS1c.3363G>A (p.Glu1121=)
c.3621G>A (p.Glu1207=)
c.3573G>A (p.Glu1191=)
c.3444G>A (p.Glu1148=)
c.3576G>A (p.Glu1192=)
n.322C>T
6g.33446613G>CCA363636980SYNGAP1,SYNGAP1-AS1c.3363G>C (p.Glu1121Asp)
c.3621G>C (p.Glu1207Asp)
c.3573G>C (p.Glu1191Asp)
c.3444G>C (p.Glu1148Asp)
c.3576G>C (p.Glu1192Asp)
n.322C>G
6g.33446613G>TCA363636982SYNGAP1,SYNGAP1-AS1c.3363G>T (p.Glu1121Asp)
c.3621G>T (p.Glu1207Asp)
c.3573G>T (p.Glu1191Asp)
c.3444G>T (p.Glu1148Asp)
c.3576G>T (p.Glu1192Asp)
n.322C>A
6g.33446614C>ACA449839627SYNGAP1,SYNGAP1-AS1c.3364C>A (p.Arg1122=)
c.3622C>A (p.Arg1208=)
c.3574C>A (p.Arg1192=)
c.3445C>A (p.Arg1149=)
c.3577C>A (p.Arg1193=)
n.321G>T
 gnomAD v4
6g.33446614C=CA1620016849SYNGAP1,SYNGAP1-AS1c.3364C= (p.Arg1122=)
c.3622C= (p.Arg1208=)
c.3574C= (p.Arg1192=)
c.3445C= (p.Arg1149=)
c.3577C= (p.Arg1193=)
n.321G=
6g.33446614C>GCA363636985SYNGAP1,SYNGAP1-AS1c.3364C>G (p.Arg1122Gly)
c.3622C>G (p.Arg1208Gly)
c.3574C>G (p.Arg1192Gly)
c.3445C>G (p.Arg1149Gly)
c.3577C>G (p.Arg1193Gly)
n.321G>C
6g.33446614C>TCA363636987SYNGAP1,SYNGAP1-AS1c.3364C>T (p.Arg1122Trp)
c.3622C>T (p.Arg1208Trp)
c.3574C>T (p.Arg1192Trp)
c.3445C>T (p.Arg1149Trp)
c.3577C>T (p.Arg1193Trp)
n.321G>A
 dbSNP gnomAD v3 gnomAD v4
6g.33446615G>ACA363636996SYNGAP1,SYNGAP1-AS1c.3365G>A (p.Arg1122Gln)
c.3623G>A (p.Arg1208Gln)
c.3575G>A (p.Arg1192Gln)
c.3446G>A (p.Arg1149Gln)
c.3578G>A (p.Arg1193Gln)
n.320C>T
 COSMIC COSMIC
6g.33446615G>CCA363636993SYNGAP1,SYNGAP1-AS1c.3365G>C (p.Arg1122Pro)
c.3623G>C (p.Arg1208Pro)
c.3575G>C (p.Arg1192Pro)
c.3446G>C (p.Arg1149Pro)
c.3578G>C (p.Arg1193Pro)
n.320C>G
6g.33446615G>TCA363636990SYNGAP1,SYNGAP1-AS1c.3365G>T (p.Arg1122Leu)
c.3623G>T (p.Arg1208Leu)
c.3575G>T (p.Arg1192Leu)
c.3446G>T (p.Arg1149Leu)
c.3578G>T (p.Arg1193Leu)
n.320C>A
6g.33446616G>ACA449839628SYNGAP1,SYNGAP1-AS1c.3366G>A (p.Arg1122=)
c.3624G>A (p.Arg1208=)
c.3576G>A (p.Arg1192=)
c.3447G>A (p.Arg1149=)
c.3579G>A (p.Arg1193=)
n.319C>T
6g.33446616G>CCA449839629SYNGAP1,SYNGAP1-AS1c.3366G>C (p.Arg1122=)
c.3624G>C (p.Arg1208=)
c.3576G>C (p.Arg1192=)
c.3447G>C (p.Arg1149=)
c.3579G>C (p.Arg1193=)
n.319C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.33446616G=CA1620016854SYNGAP1,SYNGAP1-AS1c.3366G= (p.Arg1122=)
c.3624G= (p.Arg1208=)
c.3576G= (p.Arg1192=)
c.3447G= (p.Arg1149=)
c.3579G= (p.Arg1193=)
n.319C=
6g.33446616G>TCA449839630SYNGAP1,SYNGAP1-AS1c.3366G>T (p.Arg1122=)
c.3624G>T (p.Arg1208=)
c.3576G>T (p.Arg1192=)
c.3447G>T (p.Arg1149=)
c.3579G>T (p.Arg1193=)
n.319C>A
 dbSNP gnomAD v2 gnomAD v4
6g.33446617C>ACA363636998SYNGAP1,SYNGAP1-AS1c.3367C>A (p.Leu1123Met)
c.3625C>A (p.Leu1209Met)
c.3577C>A (p.Leu1193Met)
c.3448C>A (p.Leu1150Met)
c.3580C>A (p.Leu1194Met)
n.318G>T
6g.33446617C>GCA363636999SYNGAP1,SYNGAP1-AS1c.3367C>G (p.Leu1123Val)
c.3625C>G (p.Leu1209Val)
c.3577C>G (p.Leu1193Val)
c.3448C>G (p.Leu1150Val)
c.3580C>G (p.Leu1194Val)
n.318G>C
6g.33446617C>TCA449839631SYNGAP1,SYNGAP1-AS1c.3367C>T (p.Leu1123=)
c.3625C>T (p.Leu1209=)
c.3577C>T (p.Leu1193=)
c.3448C>T (p.Leu1150=)
c.3580C>T (p.Leu1194=)
n.318G>A
6g.33446618T>ACA363637002SYNGAP1,SYNGAP1-AS1c.3368T>A (p.Leu1123Gln)
c.3626T>A (p.Leu1209Gln)
c.3578T>A (p.Leu1193Gln)
c.3449T>A (p.Leu1150Gln)
c.3581T>A (p.Leu1194Gln)
n.317A>T
6g.33446618T>CCA363637005SYNGAP1,SYNGAP1-AS1c.3368T>C (p.Leu1123Pro)
c.3626T>C (p.Leu1209Pro)
c.3578T>C (p.Leu1193Pro)
c.3449T>C (p.Leu1150Pro)
c.3581T>C (p.Leu1194Pro)
n.317A>G
6g.33446618T>GCA363637007SYNGAP1,SYNGAP1-AS1c.3368T>G (p.Leu1123Arg)
c.3626T>G (p.Leu1209Arg)
c.3578T>G (p.Leu1193Arg)
c.3449T>G (p.Leu1150Arg)
c.3581T>G (p.Leu1194Arg)
n.317A>C
6g.33446619G>ACA449839632SYNGAP1,SYNGAP1-AS1c.3369G>A (p.Leu1123=)
c.3627G>A (p.Leu1209=)
c.3579G>A (p.Leu1193=)
c.3450G>A (p.Leu1150=)
c.3582G>A (p.Leu1194=)
n.316C>T
 dbSNP gnomAD v4
6g.33446619G>CCA449839633SYNGAP1,SYNGAP1-AS1c.3369G>C (p.Leu1123=)
c.3627G>C (p.Leu1209=)
c.3579G>C (p.Leu1193=)
c.3450G>C (p.Leu1150=)
c.3582G>C (p.Leu1194=)
n.316C>G
6g.33446619G=CA1620016858SYNGAP1,SYNGAP1-AS1c.3369G= (p.Leu1123=)
c.3627G= (p.Leu1209=)
c.3579G= (p.Leu1193=)
c.3450G= (p.Leu1150=)
c.3582G= (p.Leu1194=)
n.316C=
6g.33446619G>TCA449839634SYNGAP1,SYNGAP1-AS1c.3369G>T (p.Leu1123=)
c.3627G>T (p.Leu1209=)
c.3579G>T (p.Leu1193=)
c.3450G>T (p.Leu1150=)
c.3582G>T (p.Leu1194=)
n.316C>A
6g.33446620C>ACA363637011SYNGAP1,SYNGAP1-AS1c.3370C>A (p.His1124Asn)
c.3628C>A (p.His1210Asn)
c.3580C>A (p.His1194Asn)
c.3451C>A (p.His1151Asn)
c.3583C>A (p.His1195Asn)
n.315G>T
6g.33446620C>GCA363637013SYNGAP1,SYNGAP1-AS1c.3370C>G (p.His1124Asp)
c.3628C>G (p.His1210Asp)
c.3580C>G (p.His1194Asp)
c.3451C>G (p.His1151Asp)
c.3583C>G (p.His1195Asp)
n.315G>C
6g.33446620C>TCA363637016SYNGAP1,SYNGAP1-AS1c.3370C>T (p.His1124Tyr)
c.3628C>T (p.His1210Tyr)
c.3580C>T (p.His1194Tyr)
c.3451C>T (p.His1151Tyr)
c.3583C>T (p.His1195Tyr)
n.315G>A
6g.33446621A>CCA363637020SYNGAP1,SYNGAP1-AS1c.3371A>C (p.His1124Pro)
c.3629A>C (p.His1210Pro)
c.3581A>C (p.His1194Pro)
c.3452A>C (p.His1151Pro)
c.3584A>C (p.His1195Pro)
n.314T>G
6g.33446621A>GCA363637022SYNGAP1,SYNGAP1-AS1c.3371A>G (p.His1124Arg)
c.3629A>G (p.His1210Arg)
c.3581A>G (p.His1194Arg)
c.3452A>G (p.His1151Arg)
c.3584A>G (p.His1195Arg)
n.314T>C
6g.33446621A>TCA363637024SYNGAP1,SYNGAP1-AS1c.3371A>T (p.His1124Leu)
c.3629A>T (p.His1210Leu)
c.3581A>T (p.His1194Leu)
c.3452A>T (p.His1151Leu)
c.3584A>T (p.His1195Leu)
n.314T>A
6g.33446622C>ACA363637025SYNGAP1,SYNGAP1-AS1c.3372C>A (p.His1124Gln)
c.3630C>A (p.His1210Gln)
c.3582C>A (p.His1194Gln)
c.3453C>A (p.His1151Gln)
c.3585C>A (p.His1195Gln)
n.313G>T
6g.33446622C>GCA363637026SYNGAP1,SYNGAP1-AS1c.3372C>G (p.His1124Gln)
c.3630C>G (p.His1210Gln)
c.3582C>G (p.His1194Gln)
c.3453C>G (p.His1151Gln)
c.3585C>G (p.His1195Gln)
n.313G>C
6g.33446622C>TCA449839635SYNGAP1,SYNGAP1-AS1c.3372C>T (p.His1124=)
c.3630C>T (p.His1210=)
c.3582C>T (p.His1194=)
c.3453C>T (p.His1151=)
c.3585C>T (p.His1195=)
n.313G>A
 gnomAD v4
6g.33446623A=CA1620016859SYNGAP1,SYNGAP1-AS1c.3373A= (p.Met1125=)
c.3631A= (p.Met1211=)
c.3583A= (p.Met1195=)
c.3454A= (p.Met1152=)
c.3586A= (p.Met1196=)
n.312T=
6g.33446623A>CCA363637029SYNGAP1,SYNGAP1-AS1c.3373A>C (p.Met1125Leu)
c.3631A>C (p.Met1211Leu)
c.3583A>C (p.Met1195Leu)
c.3454A>C (p.Met1152Leu)
c.3586A>C (p.Met1196Leu)
n.312T>G
6g.33446623A>GCA3759079SYNGAP1,SYNGAP1-AS1c.3373A>G (p.Met1125Val)
c.3631A>G (p.Met1211Val)
c.3583A>G (p.Met1195Val)
c.3454A>G (p.Met1152Val)
c.3586A>G (p.Met1196Val)
n.312T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33446623A>TCA363637027SYNGAP1,SYNGAP1-AS1c.3373A>T (p.Met1125Leu)
c.3631A>T (p.Met1211Leu)
c.3583A>T (p.Met1195Leu)
c.3454A>T (p.Met1152Leu)
c.3586A>T (p.Met1196Leu)
n.312T>A
6g.33446624delCA2499218232SYNGAP1,SYNGAP1-AS1c.3374del (p.Met1125SerfsTer24)
c.3632del (p.Met1211SerfsTer24)
c.3584del (p.Met1195SerfsTer24)
c.3455del (p.Met1152SerfsTer24)
c.3587del (p.Met1196SerfsTer24)
n.311del
 ClinVar dbSNP
6g.33446624T>ACA363637032SYNGAP1,SYNGAP1-AS1c.3374T>A (p.Met1125Lys)
c.3632T>A (p.Met1211Lys)
c.3584T>A (p.Met1195Lys)
c.3455T>A (p.Met1152Lys)
c.3587T>A (p.Met1196Lys)
n.311A>T
 ClinVar dbSNP
6g.33446624T>CCA363637033SYNGAP1,SYNGAP1-AS1c.3374T>C (p.Met1125Thr)
c.3632T>C (p.Met1211Thr)
c.3584T>C (p.Met1195Thr)
c.3455T>C (p.Met1152Thr)
c.3587T>C (p.Met1196Thr)
n.311A>G
6g.33446624T>GCA363637035SYNGAP1,SYNGAP1-AS1c.3374T>G (p.Met1125Arg)
c.3632T>G (p.Met1211Arg)
c.3584T>G (p.Met1195Arg)
c.3455T>G (p.Met1152Arg)
c.3587T>G (p.Met1196Arg)
n.311A>C
6g.33446624T=CA1620016862SYNGAP1,SYNGAP1-AS1c.3374T= (p.Met1125=)
c.3632T= (p.Met1211=)
c.3584T= (p.Met1195=)
c.3455T= (p.Met1152=)
c.3587T= (p.Met1196=)
n.311A=

Number of alleles fetched