Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.47406619C>ACA2670529681GABRB1c.836-63C>A (n.836-63C>A)
c.815-63C>A (n.815-63C>A)
c.185-63C>A (n.185-63C>A)
c.737-63C>A (n.737-63C>A)
 gnomAD v4
4g.47406620A>GCA2670529682GABRB1c.836-62A>G (n.836-62A>G)
c.815-62A>G (n.815-62A>G)
c.185-62A>G (n.185-62A>G)
c.737-62A>G (n.737-62A>G)
 gnomAD v4
4g.47406621A>GCA649352867GABRB1c.836-61A>G (n.836-61A>G)
c.815-61A>G (n.815-61A>G)
c.185-61A>G (n.185-61A>G)
c.737-61A>G (n.737-61A>G)
 gnomAD v3 gnomAD v4 COSMIC
4g.47406623dupCA2670529683GABRB1c.836-59dup (n.836-59dup)
c.815-59dup (n.815-59dup)
c.185-59dup (n.185-59dup)
c.737-59dup (n.737-59dup)
 gnomAD v4
4g.47406626G>TCA2670529684GABRB1c.836-56G>T (n.836-56G>T)
c.815-56G>T (n.815-56G>T)
c.185-56G>T (n.185-56G>T)
c.737-56G>T (n.737-56G>T)
 gnomAD v4
4g.47406631delCA2670529685GABRB1c.836-51del (n.836-51del)
c.815-51del (n.815-51del)
c.185-51del (n.185-51del)
c.737-51del (n.737-51del)
 gnomAD v4
4g.47406632G>ACA2670529688GABRB1c.836-50G>A (n.836-50G>A)
c.815-50G>A (n.815-50G>A)
c.185-50G>A (n.185-50G>A)
c.737-50G>A (n.737-50G>A)
 gnomAD v4
4g.47406632G>CCA2670529686GABRB1c.836-50G>C (n.836-50G>C)
c.815-50G>C (n.815-50G>C)
c.185-50G>C (n.185-50G>C)
c.737-50G>C (n.737-50G>C)
 gnomAD v4
4g.47406632G>TCA2670529687GABRB1c.836-50G>T (n.836-50G>T)
c.815-50G>T (n.815-50G>T)
c.185-50G>T (n.185-50G>T)
c.737-50G>T (n.737-50G>T)
 gnomAD v4
4g.47406633G>ACA2670529689GABRB1c.836-49G>A (n.836-49G>A)
c.815-49G>A (n.815-49G>A)
c.185-49G>A (n.185-49G>A)
c.737-49G>A (n.737-49G>A)
 gnomAD v4
4g.47406633G>TCA2670529690GABRB1c.836-49G>T (n.836-49G>T)
c.815-49G>T (n.815-49G>T)
c.185-49G>T (n.185-49G>T)
c.737-49G>T (n.737-49G>T)
 gnomAD v4
4g.47406634A>TCA2670529691GABRB1c.836-48A>T (n.836-48A>T)
c.815-48A>T (n.815-48A>T)
c.185-48A>T (n.185-48A>T)
c.737-48A>T (n.737-48A>T)
 gnomAD v4
4g.47406636C>TCA2670529692GABRB1c.836-46C>T (n.836-46C>T)
c.815-46C>T (n.815-46C>T)
c.185-46C>T (n.185-46C>T)
c.737-46C>T (n.737-46C>T)
 gnomAD v4
4g.47406637T>GCA2670529693GABRB1c.836-45T>G (n.836-45T>G)
c.815-45T>G (n.815-45T>G)
c.185-45T>G (n.185-45T>G)
c.737-45T>G (n.737-45T>G)
 gnomAD v4
4g.47406638T>CCA2907698GABRB1c.836-44T>C (n.836-44T>C)
c.815-44T>C (n.815-44T>C)
c.185-44T>C (n.185-44T>C)
c.737-44T>C (n.737-44T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406638T=CA1455320337GABRB1c.836-44T= (n.836-44T=)
c.815-44T= (n.815-44T=)
c.185-44T= (n.185-44T=)
c.737-44T= (n.737-44T=)
4g.47406639A>CCA2670529694GABRB1c.836-43A>C (n.836-43A>C)
c.815-43A>C (n.815-43A>C)
c.185-43A>C (n.185-43A>C)
c.737-43A>C (n.737-43A>C)
 gnomAD v4
4g.47406640A=CA1455320340GABRB1c.836-42A= (n.836-42A=)
c.815-42A= (n.815-42A=)
c.185-42A= (n.185-42A=)
c.737-42A= (n.737-42A=)
4g.47406640A>CCA1061956094GABRB1c.836-42A>C (n.836-42A>C)
c.815-42A>C (n.815-42A>C)
c.185-42A>C (n.185-42A>C)
c.737-42A>C (n.737-42A>C)
 gnomAD v3 gnomAD v4
4g.47406640A>GCA1455320339GABRB1c.836-42A>G (n.836-42A>G)
c.815-42A>G (n.815-42A>G)
c.185-42A>G (n.185-42A>G)
c.737-42A>G (n.737-42A>G)
 dbSNP
4g.47406640A>TCA2670529695GABRB1c.836-42A>T (n.836-42A>T)
c.815-42A>T (n.815-42A>T)
c.185-42A>T (n.185-42A>T)
c.737-42A>T (n.737-42A>T)
 gnomAD v4
4g.47406641T>CCA2670529696GABRB1c.836-41T>C (n.836-41T>C)
c.815-41T>C (n.815-41T>C)
c.185-41T>C (n.185-41T>C)
c.737-41T>C (n.737-41T>C)
 gnomAD v4
4g.47406642A>GCA2670529697GABRB1c.836-40A>G (n.836-40A>G)
c.815-40A>G (n.815-40A>G)
c.185-40A>G (n.185-40A>G)
c.737-40A>G (n.737-40A>G)
 gnomAD v4
4g.47406643G>ACA97302416GABRB1c.836-39G>A (n.836-39G>A)
c.815-39G>A (n.815-39G>A)
c.185-39G>A (n.185-39G>A)
c.737-39G>A (n.737-39G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.47406643G>CCA2578079460GABRB1c.836-39G>C (n.836-39G>C)
c.815-39G>C (n.815-39G>C)
c.185-39G>C (n.185-39G>C)
c.737-39G>C (n.737-39G>C)
4g.47406643G=CA1455320342GABRB1c.836-39G= (n.836-39G=)
c.815-39G= (n.815-39G=)
c.185-39G= (n.185-39G=)
c.737-39G= (n.737-39G=)
4g.47406644T>CCA1061956095GABRB1c.836-38T>C (n.836-38T>C)
c.815-38T>C (n.815-38T>C)
c.185-38T>C (n.185-38T>C)
c.737-38T>C (n.737-38T>C)
 dbSNP gnomAD v3 gnomAD v4
4g.47406644T=CA1455320344GABRB1c.836-38T= (n.836-38T=)
c.815-38T= (n.815-38T=)
c.185-38T= (n.185-38T=)
c.737-38T= (n.737-38T=)
4g.47406645G>ACA551310839GABRB1c.836-37G>A (n.836-37G>A)
c.815-37G>A (n.815-37G>A)
c.185-37G>A (n.185-37G>A)
c.737-37G>A (n.737-37G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.47406645G=CA1455320346GABRB1c.836-37G= (n.836-37G=)
c.815-37G= (n.815-37G=)
c.185-37G= (n.185-37G=)
c.737-37G= (n.737-37G=)
4g.47406646G>ACA1061956097GABRB1c.836-36G>A (n.836-36G>A)
c.815-36G>A (n.815-36G>A)
c.185-36G>A (n.185-36G>A)
c.737-36G>A (n.737-36G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.47406646G=CA1455320348GABRB1c.836-36G= (n.836-36G=)
c.815-36G= (n.815-36G=)
c.185-36G= (n.185-36G=)
c.737-36G= (n.737-36G=)
4g.47406647C=CA1455320350GABRB1c.836-35C= (n.836-35C=)
c.815-35C= (n.815-35C=)
c.185-35C= (n.185-35C=)
c.737-35C= (n.737-35C=)
4g.47406647C>GCA2670529698GABRB1c.836-35C>G (n.836-35C>G)
c.815-35C>G (n.815-35C>G)
c.185-35C>G (n.185-35C>G)
c.737-35C>G (n.737-35C>G)
 gnomAD v4
4g.47406647C>TCA97302417GABRB1c.836-35C>T (n.836-35C>T)
c.815-35C>T (n.815-35C>T)
c.185-35C>T (n.185-35C>T)
c.737-35C>T (n.737-35C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.47406648A=CA1455320352GABRB1c.836-34A= (n.836-34A=)
c.815-34A= (n.815-34A=)
c.185-34A= (n.185-34A=)
c.737-34A= (n.737-34A=)
4g.47406648A>CCA2581418179GABRB1c.836-34A>C (n.836-34A>C)
c.815-34A>C (n.815-34A>C)
c.185-34A>C (n.185-34A>C)
c.737-34A>C (n.737-34A>C)
4g.47406648A>GCA2907699GABRB1c.836-34A>G (n.836-34A>G)
c.815-34A>G (n.815-34A>G)
c.185-34A>G (n.185-34A>G)
c.737-34A>G (n.737-34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406648A>TCA2581418178GABRB1c.836-34A>T (n.836-34A>T)
c.815-34A>T (n.815-34A>T)
c.185-34A>T (n.185-34A>T)
c.737-34A>T (n.737-34A>T)
4g.47406649C>ACA1455320357GABRB1c.836-33C>A (n.836-33C>A)
c.815-33C>A (n.815-33C>A)
c.185-33C>A (n.185-33C>A)
c.737-33C>A (n.737-33C>A)
 dbSNP gnomAD v4
4g.47406649C=CA1455320355GABRB1c.836-33C= (n.836-33C=)
c.815-33C= (n.815-33C=)
c.185-33C= (n.185-33C=)
c.737-33C= (n.737-33C=)
4g.47406649C>TCA97302418GABRB1c.836-33C>T (n.836-33C>T)
c.815-33C>T (n.815-33C>T)
c.185-33C>T (n.185-33C>T)
c.737-33C>T (n.737-33C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.47406650C=CA1455320358GABRB1c.836-32C= (n.836-32C=)
c.815-32C= (n.815-32C=)
c.185-32C= (n.185-32C=)
c.737-32C= (n.737-32C=)
4g.47406650C>TCA551310840GABRB1c.836-32C>T (n.836-32C>T)
c.815-32C>T (n.815-32C>T)
c.185-32C>T (n.185-32C>T)
c.737-32C>T (n.737-32C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.47406653C>GCA2670529699GABRB1c.836-29C>G (n.836-29C>G)
c.815-29C>G (n.815-29C>G)
c.185-29C>G (n.185-29C>G)
c.737-29C>G (n.737-29C>G)
 gnomAD v4
4g.47406654A>CCA2527653445GABRB1c.836-28A>C (n.836-28A>C)
c.815-28A>C (n.815-28A>C)
c.185-28A>C (n.185-28A>C)
c.737-28A>C (n.737-28A>C)
 gnomAD v4
4g.47406654A>GCA649352871GABRB1c.836-28A>G (n.836-28A>G)
c.815-28A>G (n.815-28A>G)
c.185-28A>G (n.185-28A>G)
c.737-28A>G (n.737-28A>G)
 COSMIC
4g.47406655G>ACA1455320360GABRB1c.836-27G>A (n.836-27G>A)
c.815-27G>A (n.815-27G>A)
c.185-27G>A (n.185-27G>A)
c.737-27G>A (n.737-27G>A)
 dbSNP
4g.47406655G=CA1455320359GABRB1c.836-27G= (n.836-27G=)
c.815-27G= (n.815-27G=)
c.185-27G= (n.185-27G=)
c.737-27G= (n.737-27G=)
4g.47406657T>ACA2578079461GABRB1c.836-25T>A (n.836-25T>A)
c.815-25T>A (n.815-25T>A)
c.185-25T>A (n.185-25T>A)
c.737-25T>A (n.737-25T>A)
 gnomAD v4
4g.47406659A>CCA2670529700GABRB1c.836-23A>C (n.836-23A>C)
c.815-23A>C (n.815-23A>C)
c.185-23A>C (n.185-23A>C)
c.737-23A>C (n.737-23A>C)
 gnomAD v4
4g.47406660G>CCA551310841GABRB1c.836-22G>C (n.836-22G>C)
c.815-22G>C (n.815-22G>C)
c.185-22G>C (n.185-22G>C)
c.737-22G>C (n.737-22G>C)
 dbSNP gnomAD v2 gnomAD v4
4g.47406660G=CA1455320362GABRB1c.836-22G= (n.836-22G=)
c.815-22G= (n.815-22G=)
c.185-22G= (n.185-22G=)
c.737-22G= (n.737-22G=)
4g.47406661T>CCA1455320365GABRB1c.836-21T>C (n.836-21T>C)
c.815-21T>C (n.815-21T>C)
c.185-21T>C (n.185-21T>C)
c.737-21T>C (n.737-21T>C)
 dbSNP gnomAD v4
4g.47406661T=CA1455320364GABRB1c.836-21T= (n.836-21T=)
c.815-21T= (n.815-21T=)
c.185-21T= (n.185-21T=)
c.737-21T= (n.737-21T=)
4g.47406662G>ACA2907700GABRB1c.836-20G>A (n.836-20G>A)
c.815-20G>A (n.815-20G>A)
c.185-20G>A (n.185-20G>A)
c.737-20G>A (n.737-20G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406662G=CA1455320367GABRB1c.836-20G= (n.836-20G=)
c.815-20G= (n.815-20G=)
c.185-20G= (n.185-20G=)
c.737-20G= (n.737-20G=)
4g.47406663T>CCA2907701GABRB1c.836-19T>C (n.836-19T>C)
c.815-19T>C (n.815-19T>C)
c.185-19T>C (n.185-19T>C)
c.737-19T>C (n.737-19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406663T=CA1455320369GABRB1c.836-19T= (n.836-19T=)
c.815-19T= (n.815-19T=)
c.185-19T= (n.185-19T=)
c.737-19T= (n.737-19T=)
4g.47406664T>CCA2670529701GABRB1c.836-18T>C (n.836-18T>C)
c.815-18T>C (n.815-18T>C)
c.185-18T>C (n.185-18T>C)
c.737-18T>C (n.737-18T>C)
 gnomAD v4
4g.47406665G>ACA2907702GABRB1c.836-17G>A (n.836-17G>A)
c.815-17G>A (n.815-17G>A)
c.185-17G>A (n.185-17G>A)
c.737-17G>A (n.737-17G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406665G=CA1455320371GABRB1c.836-17G= (n.836-17G=)
c.815-17G= (n.815-17G=)
c.185-17G= (n.185-17G=)
c.737-17G= (n.737-17G=)
4g.47406665G>TCA2670529702GABRB1c.836-17G>T (n.836-17G>T)
c.815-17G>T (n.815-17G>T)
c.185-17G>T (n.185-17G>T)
c.737-17G>T (n.737-17G>T)
 gnomAD v4
4g.47406666T>CCA97302419GABRB1c.836-16T>C (n.836-16T>C)
c.815-16T>C (n.815-16T>C)
c.185-16T>C (n.185-16T>C)
c.737-16T>C (n.737-16T>C)
 dbSNP gnomAD v4
4g.47406666T=CA1455320374GABRB1c.836-16T= (n.836-16T=)
c.815-16T= (n.815-16T=)
c.185-16T= (n.185-16T=)
c.737-16T= (n.737-16T=)
4g.47406667C=CA1455320377GABRB1c.836-15C= (n.836-15C=)
c.815-15C= (n.815-15C=)
c.185-15C= (n.185-15C=)
c.737-15C= (n.737-15C=)
4g.47406667C>GCA1455320379GABRB1c.836-15C>G (n.836-15C>G)
c.815-15C>G (n.815-15C>G)
c.185-15C>G (n.185-15C>G)
c.737-15C>G (n.737-15C>G)
 dbSNP gnomAD v4
4g.47406671C>TCA2578079462GABRB1c.836-11C>T (n.836-11C>T)
c.815-11C>T (n.815-11C>T)
c.185-11C>T (n.185-11C>T)
c.737-11C>T (n.737-11C>T)
 gnomAD v4
4g.47406672T>CCA2670529703GABRB1c.836-10T>C (n.836-10T>C)
c.815-10T>C (n.815-10T>C)
c.185-10T>C (n.185-10T>C)
c.737-10T>C (n.737-10T>C)
 gnomAD v4
4g.47406672T>GCA2761320708GABRB1c.836-10T>G (n.836-10T>G)
c.815-10T>G (n.815-10T>G)
c.185-10T>G (n.185-10T>G)
c.737-10T>G (n.737-10T>G)
4g.47406673C=CA1455320381GABRB1c.836-9C= (n.836-9C=)
c.815-9C= (n.815-9C=)
c.185-9C= (n.185-9C=)
c.737-9C= (n.737-9C=)
4g.47406673C>GCA1455320384GABRB1c.836-9C>G (n.836-9C>G)
c.815-9C>G (n.815-9C>G)
c.185-9C>G (n.185-9C>G)
c.737-9C>G (n.737-9C>G)
 ClinVar dbSNP gnomAD v4
4g.47406673C>TCA1455320382GABRB1c.836-9C>T (n.836-9C>T)
c.815-9C>T (n.815-9C>T)
c.185-9C>T (n.185-9C>T)
c.737-9C>T (n.737-9C>T)
 dbSNP
4g.47406674T>CCA1455320388GABRB1c.836-8T>C (n.836-8T>C)
c.815-8T>C (n.815-8T>C)
c.185-8T>C (n.185-8T>C)
c.737-8T>C (n.737-8T>C)
 dbSNP gnomAD v4
4g.47406674T=CA1455320386GABRB1c.836-8T= (n.836-8T=)
c.815-8T= (n.815-8T=)
c.185-8T= (n.185-8T=)
c.737-8T= (n.737-8T=)
4g.47406675T>GCA2907703GABRB1c.836-7T>G (n.836-7T>G)
c.815-7T>G (n.815-7T>G)
c.185-7T>G (n.185-7T>G)
c.737-7T>G (n.737-7T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406675T=CA1455320390GABRB1c.836-7T= (n.836-7T=)
c.815-7T= (n.815-7T=)
c.185-7T= (n.185-7T=)
c.737-7T= (n.737-7T=)
4g.47406677C>TCA2578079463GABRB1c.836-5C>T (n.836-5C>T)
c.815-5C>T (n.815-5C>T)
c.185-5C>T (n.185-5C>T)
c.737-5C>T (n.737-5C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.47406678A>GCA2670529704GABRB1c.836-4A>G (n.836-4A>G)
c.815-4A>G (n.815-4A>G)
c.185-4A>G (n.185-4A>G)
c.737-4A>G (n.737-4A>G)
 gnomAD v4
4g.47406680A>CCA356811177GABRB1c.836-2A>C (n.836-2A>C)
c.815-2A>C (n.815-2A>C)
c.185-2A>C (n.185-2A>C)
c.737-2A>C (n.737-2A>C)
4g.47406680A>GCA356811179GABRB1c.836-2A>G (n.836-2A>G)
c.815-2A>G (n.815-2A>G)
c.185-2A>G (n.185-2A>G)
c.737-2A>G (n.737-2A>G)
4g.47406680A>TCA356811180GABRB1c.836-2A>T (n.836-2A>T)
c.815-2A>T (n.815-2A>T)
c.185-2A>T (n.185-2A>T)
c.737-2A>T (n.737-2A>T)
4g.47406681G>ACA356811181GABRB1c.836-1G>A (n.836-1G>A)
c.815-1G>A (n.815-1G>A)
c.185-1G>A (n.185-1G>A)
c.737-1G>A (n.737-1G>A)
 gnomAD v4
4g.47406681G>CCA356811183GABRB1c.836-1G>C (n.836-1G>C)
c.815-1G>C (n.815-1G>C)
c.185-1G>C (n.185-1G>C)
c.737-1G>C (n.737-1G>C)
4g.47406681G>TCA356811185GABRB1c.836-1G>T (n.836-1G>T)
c.815-1G>T (n.815-1G>T)
c.185-1G>T (n.185-1G>T)
c.737-1G>T (n.737-1G>T)
4g.47406682G>ACA356811191GABRB1c.836G>A (p.Gly279Glu)
c.815G>A (p.Gly272Glu)
c.185G>A (p.Gly62Glu)
c.737G>A (p.Gly246Glu)
4g.47406682G>CCA356811189GABRB1c.836G>C (p.Gly279Ala)
c.815G>C (p.Gly272Ala)
c.185G>C (p.Gly62Ala)
c.737G>C (p.Gly246Ala)
4g.47406682G>TCA356811187GABRB1c.836G>T (p.Gly279Val)
c.815G>T (p.Gly272Val)
c.185G>T (p.Gly62Val)
c.737G>T (p.Gly246Val)
4g.47406683A=CA1455320393GABRB1c.837A= (p.Gly279=)
c.816A= (p.Gly272=)
c.186A= (p.Gly62=)
c.738A= (p.Gly246=)
4g.47406683A>CCA439245677GABRB1c.837A>C (p.Gly279=)
c.816A>C (p.Gly272=)
c.186A>C (p.Gly62=)
c.738A>C (p.Gly246=)
4g.47406683A>GCA439245678GABRB1c.837A>G (p.Gly279=)
c.816A>G (p.Gly272=)
c.186A>G (p.Gly62=)
c.738A>G (p.Gly246=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.47406683A>TCA439245679GABRB1c.837A>T (p.Gly279=)
c.816A>T (p.Gly272=)
c.186A>T (p.Gly62=)
c.738A>T (p.Gly246=)
4g.47406684A>CCA356811193GABRB1c.838A>C (p.Ile280Leu)
c.817A>C (p.Ile273Leu)
c.187A>C (p.Ile63Leu)
c.739A>C (p.Ile247Leu)
4g.47406684A>GCA356811194GABRB1c.838A>G (p.Ile280Val)
c.817A>G (p.Ile273Val)
c.187A>G (p.Ile63Val)
c.739A>G (p.Ile247Val)
4g.47406684A>TCA356811197GABRB1c.838A>T (p.Ile280Phe)
c.817A>T (p.Ile273Phe)
c.187A>T (p.Ile63Phe)
c.739A>T (p.Ile247Phe)
4g.47406685T>ACA356811199GABRB1c.839T>A (p.Ile280Asn)
c.818T>A (p.Ile273Asn)
c.188T>A (p.Ile63Asn)
c.740T>A (p.Ile247Asn)
4g.47406685T>CCA356811201GABRB1c.839T>C (p.Ile280Thr)
c.818T>C (p.Ile273Thr)
c.188T>C (p.Ile63Thr)
c.740T>C (p.Ile247Thr)
4g.47406685T>GCA356811203GABRB1c.839T>G (p.Ile280Ser)
c.818T>G (p.Ile273Ser)
c.188T>G (p.Ile63Ser)
c.740T>G (p.Ile247Ser)
4g.47406686C>ACA439245680GABRB1c.840C>A (p.Ile280=)
c.819C>A (p.Ile273=)
c.189C>A (p.Ile63=)
c.741C>A (p.Ile247=)
4g.47406686C>GCA356811204GABRB1c.840C>G (p.Ile280Met)
c.819C>G (p.Ile273Met)
c.189C>G (p.Ile63Met)
c.741C>G (p.Ile247Met)
4g.47406686C>TCA439245681GABRB1c.840C>T (p.Ile280=)
c.819C>T (p.Ile273=)
c.189C>T (p.Ile63=)
c.741C>T (p.Ile247=)
4g.47406687A>CCA356811205GABRB1c.841A>C (p.Thr281Pro)
c.820A>C (p.Thr274Pro)
c.190A>C (p.Thr64Pro)
c.742A>C (p.Thr248Pro)
4g.47406687A>GCA356811207GABRB1c.841A>G (p.Thr281Ala)
c.820A>G (p.Thr274Ala)
c.190A>G (p.Thr64Ala)
c.742A>G (p.Thr248Ala)
4g.47406687A>TCA356811209GABRB1c.841A>T (p.Thr281Ser)
c.820A>T (p.Thr274Ser)
c.190A>T (p.Thr64Ser)
c.742A>T (p.Thr248Ser)
4g.47406688C>ACA356811211GABRB1c.842C>A (p.Thr281Lys)
c.821C>A (p.Thr274Lys)
c.191C>A (p.Thr64Lys)
c.743C>A (p.Thr248Lys)
4g.47406688C=CA1455320395GABRB1c.842C= (p.Thr281=)
c.821C= (p.Thr274=)
c.191C= (p.Thr64=)
c.743C= (p.Thr248=)
4g.47406688C>GCA356811213GABRB1c.842C>G (p.Thr281Arg)
c.821C>G (p.Thr274Arg)
c.191C>G (p.Thr64Arg)
c.743C>G (p.Thr248Arg)
4g.47406688C>TCA356811215GABRB1c.842C>T (p.Thr281Met)
c.821C>T (p.Thr274Met)
c.191C>T (p.Thr64Met)
c.743C>T (p.Thr248Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47406689G>ACA2907704GABRB1c.843G>A (p.Thr281=)
c.822G>A (p.Thr274=)
c.192G>A (p.Thr64=)
c.744G>A (p.Thr248=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406689G>CCA439245683GABRB1c.843G>C (p.Thr281=)
c.822G>C (p.Thr274=)
c.192G>C (p.Thr64=)
c.744G>C (p.Thr248=)
4g.47406689G=CA1455320398GABRB1c.843G= (p.Thr281=)
c.822G= (p.Thr274=)
c.192G= (p.Thr64=)
c.744G= (p.Thr248=)
4g.47406689G>TCA439245682GABRB1c.843G>T (p.Thr281=)
c.822G>T (p.Thr274=)
c.192G>T (p.Thr64=)
c.744G>T (p.Thr248=)
 gnomAD v4
4g.47406690A>CCA356811222GABRB1c.844A>C (p.Thr282Pro)
c.823A>C (p.Thr275Pro)
c.193A>C (p.Thr65Pro)
c.745A>C (p.Thr249Pro)
4g.47406690A>GCA356811218GABRB1c.844A>G (p.Thr282Ala)
c.823A>G (p.Thr275Ala)
c.193A>G (p.Thr65Ala)
c.745A>G (p.Thr249Ala)
4g.47406690A>TCA356811220GABRB1c.844A>T (p.Thr282Ser)
c.823A>T (p.Thr275Ser)
c.193A>T (p.Thr65Ser)
c.745A>T (p.Thr249Ser)
4g.47406691C>ACA356811223GABRB1c.845C>A (p.Thr282Lys)
c.824C>A (p.Thr275Lys)
c.194C>A (p.Thr65Lys)
c.746C>A (p.Thr249Lys)
4g.47406691C>GCA356811225GABRB1c.845C>G (p.Thr282Arg)
c.824C>G (p.Thr275Arg)
c.194C>G (p.Thr65Arg)
c.746C>G (p.Thr249Arg)
4g.47406691C>TCA356811227GABRB1c.845C>T (p.Thr282Ile)
c.824C>T (p.Thr275Ile)
c.194C>T (p.Thr65Ile)
c.746C>T (p.Thr249Ile)
4g.47406692A=CA1455320400GABRB1c.846A= (p.Thr282=)
c.825A= (p.Thr275=)
c.195A= (p.Thr65=)
c.747A= (p.Thr249=)
4g.47406692A>CCA439245684GABRB1c.846A>C (p.Thr282=)
c.825A>C (p.Thr275=)
c.195A>C (p.Thr65=)
c.747A>C (p.Thr249=)
 dbSNP gnomAD v3 gnomAD v4
4g.47406692A>GCA2907705GABRB1c.846A>G (p.Thr282=)
c.825A>G (p.Thr275=)
c.195A>G (p.Thr65=)
c.747A>G (p.Thr249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406692A>TCA2907706GABRB1c.846A>T (p.Thr282=)
c.825A>T (p.Thr275=)
c.195A>T (p.Thr65=)
c.747A>T (p.Thr249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406693G>ACA356811229GABRB1c.847G>A (p.Val283Met)
c.826G>A (p.Val276Met)
c.196G>A (p.Val66Met)
c.748G>A (p.Val250Met)
4g.47406693G>CCA356811230GABRB1c.847G>C (p.Val283Leu)
c.826G>C (p.Val276Leu)
c.196G>C (p.Val66Leu)
c.748G>C (p.Val250Leu)
4g.47406693G>TCA356811231GABRB1c.847G>T (p.Val283Leu)
c.826G>T (p.Val276Leu)
c.196G>T (p.Val66Leu)
c.748G>T (p.Val250Leu)
4g.47406694T>ACA356811232GABRB1c.848T>A (p.Val283Glu)
c.827T>A (p.Val276Glu)
c.197T>A (p.Val66Glu)
c.749T>A (p.Val250Glu)
4g.47406694T>CCA356811233GABRB1c.848T>C (p.Val283Ala)
c.827T>C (p.Val276Ala)
c.197T>C (p.Val66Ala)
c.749T>C (p.Val250Ala)
4g.47406694T>GCA356811234GABRB1c.848T>G (p.Val283Gly)
c.827T>G (p.Val276Gly)
c.197T>G (p.Val66Gly)
c.749T>G (p.Val250Gly)
4g.47406695G>ACA439245685GABRB1c.849G>A (p.Val283=)
c.828G>A (p.Val276=)
c.198G>A (p.Val66=)
c.750G>A (p.Val250=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.47406695G>CCA439245686GABRB1c.849G>C (p.Val283=)
c.828G>C (p.Val276=)
c.198G>C (p.Val66=)
c.750G>C (p.Val250=)
4g.47406695G>TCA439245687GABRB1c.849G>T (p.Val283=)
c.828G>T (p.Val276=)
c.198G>T (p.Val66=)
c.750G>T (p.Val250=)
4g.47406696C>ACA356811237GABRB1c.850C>A (p.Leu284Ile)
c.829C>A (p.Leu277Ile)
c.199C>A (p.Leu67Ile)
c.751C>A (p.Leu251Ile)
4g.47406696C>GCA356811235GABRB1c.850C>G (p.Leu284Val)
c.829C>G (p.Leu277Val)
c.199C>G (p.Leu67Val)
c.751C>G (p.Leu251Val)
4g.47406696C>TCA356811236GABRB1c.850C>T (p.Leu284Phe)
c.829C>T (p.Leu277Phe)
c.199C>T (p.Leu67Phe)
c.751C>T (p.Leu251Phe)
4g.47406697T>ACA356811238GABRB1c.851T>A (p.Leu284His)
c.830T>A (p.Leu277His)
c.200T>A (p.Leu67His)
c.752T>A (p.Leu251His)
4g.47406697T>CCA356811239GABRB1c.851T>C (p.Leu284Pro)
c.830T>C (p.Leu277Pro)
c.200T>C (p.Leu67Pro)
c.752T>C (p.Leu251Pro)
4g.47406697T>GCA356811240GABRB1c.851T>G (p.Leu284Arg)
c.830T>G (p.Leu277Arg)
c.200T>G (p.Leu67Arg)
c.752T>G (p.Leu251Arg)
4g.47406698T>ACA439245688GABRB1c.852T>A (p.Leu284=)
c.831T>A (p.Leu277=)
c.201T>A (p.Leu67=)
c.753T>A (p.Leu251=)
4g.47406698T>CCA439245689GABRB1c.852T>C (p.Leu284=)
c.831T>C (p.Leu277=)
c.201T>C (p.Leu67=)
c.753T>C (p.Leu251=)
4g.47406698T>GCA439245690GABRB1c.852T>G (p.Leu284=)
c.831T>G (p.Leu277=)
c.201T>G (p.Leu67=)
c.753T>G (p.Leu251=)
4g.47406699A>CCA356811241GABRB1c.853A>C (p.Thr285Pro)
c.832A>C (p.Thr278Pro)
c.202A>C (p.Thr68Pro)
c.754A>C (p.Thr252Pro)
4g.47406699A>GCA356811242GABRB1c.853A>G (p.Thr285Ala)
c.832A>G (p.Thr278Ala)
c.202A>G (p.Thr68Ala)
c.754A>G (p.Thr252Ala)
 gnomAD v4
4g.47406699A>TCA356811243GABRB1c.853A>T (p.Thr285Ser)
c.832A>T (p.Thr278Ser)
c.202A>T (p.Thr68Ser)
c.754A>T (p.Thr252Ser)
4g.47406700C>ACA356811244GABRB1c.854C>A (p.Thr285Lys)
c.833C>A (p.Thr278Lys)
c.203C>A (p.Thr68Lys)
c.755C>A (p.Thr252Lys)
 ClinVar dbSNP
4g.47406700C=CA1455320412GABRB1c.854C= (p.Thr285=)
c.833C= (p.Thr278=)
c.203C= (p.Thr68=)
c.755C= (p.Thr252=)
4g.47406700C>GCA356811245GABRB1c.854C>G (p.Thr285Arg)
c.833C>G (p.Thr278Arg)
c.203C>G (p.Thr68Arg)
c.755C>G (p.Thr252Arg)
4g.47406700C>TCA356811246GABRB1c.854C>T (p.Thr285Ile)
c.833C>T (p.Thr278Ile)
c.203C>T (p.Thr68Ile)
c.755C>T (p.Thr252Ile)
4g.47406701A>CCA439245691GABRB1c.855A>C (p.Thr285=)
c.834A>C (p.Thr278=)
c.204A>C (p.Thr68=)
c.756A>C (p.Thr252=)
4g.47406701A>GCA439245692GABRB1c.855A>G (p.Thr285=)
c.834A>G (p.Thr278=)
c.204A>G (p.Thr68=)
c.756A>G (p.Thr252=)
4g.47406701A>TCA439245693GABRB1c.855A>T (p.Thr285=)
c.834A>T (p.Thr278=)
c.204A>T (p.Thr68=)
c.756A>T (p.Thr252=)
4g.47406702A>CCA356811247GABRB1c.856A>C (p.Met286Leu)
c.835A>C (p.Met279Leu)
c.205A>C (p.Met69Leu)
c.757A>C (p.Met253Leu)
4g.47406702A>GCA356811248GABRB1c.856A>G (p.Met286Val)
c.835A>G (p.Met279Val)
c.205A>G (p.Met69Val)
c.757A>G (p.Met253Val)
4g.47406702A>TCA356811249GABRB1c.856A>T (p.Met286Leu)
c.835A>T (p.Met279Leu)
c.205A>T (p.Met69Leu)
c.757A>T (p.Met253Leu)
4g.47406703T>ACA356811252GABRB1c.857T>A (p.Met286Lys)
c.836T>A (p.Met279Lys)
c.206T>A (p.Met69Lys)
c.758T>A (p.Met253Lys)
4g.47406703T>CCA356811251GABRB1c.857T>C (p.Met286Thr)
c.836T>C (p.Met279Thr)
c.206T>C (p.Met69Thr)
c.758T>C (p.Met253Thr)
4g.47406703T>GCA356811250GABRB1c.857T>G (p.Met286Arg)
c.836T>G (p.Met279Arg)
c.206T>G (p.Met69Arg)
c.758T>G (p.Met253Arg)
4g.47406704G>ACA356811255GABRB1c.858G>A (p.Met286Ile)
c.837G>A (p.Met279Ile)
c.207G>A (p.Met69Ile)
c.759G>A (p.Met253Ile)
4g.47406704G>CCA356811253GABRB1c.858G>C (p.Met286Ile)
c.837G>C (p.Met279Ile)
c.207G>C (p.Met69Ile)
c.759G>C (p.Met253Ile)
4g.47406704G>TCA356811254GABRB1c.858G>T (p.Met286Ile)
c.837G>T (p.Met279Ile)
c.207G>T (p.Met69Ile)
c.759G>T (p.Met253Ile)
4g.47406705A>CCA356811256GABRB1c.859A>C (p.Thr287Pro)
c.838A>C (p.Thr280Pro)
c.208A>C (p.Thr70Pro)
c.760A>C (p.Thr254Pro)
4g.47406705A>GCA356811257GABRB1c.859A>G (p.Thr287Ala)
c.838A>G (p.Thr280Ala)
c.208A>G (p.Thr70Ala)
c.760A>G (p.Thr254Ala)
4g.47406705A>TCA356811258GABRB1c.859A>T (p.Thr287Ser)
c.838A>T (p.Thr280Ser)
c.208A>T (p.Thr70Ser)
c.760A>T (p.Thr254Ser)
4g.47406706C>ACA356811259GABRB1c.860C>A (p.Thr287Lys)
c.839C>A (p.Thr280Lys)
c.209C>A (p.Thr70Lys)
c.761C>A (p.Thr254Lys)
 COSMIC
4g.47406706C=CA1455320415GABRB1c.860C= (p.Thr287=)
c.839C= (p.Thr280=)
c.209C= (p.Thr70=)
c.761C= (p.Thr254=)
4g.47406706C>GCA356811260GABRB1c.860C>G (p.Thr287Arg)
c.839C>G (p.Thr280Arg)
c.209C>G (p.Thr70Arg)
c.761C>G (p.Thr254Arg)
4g.47406706C>TCA10588847GABRB1c.860C>T (p.Thr287Ile)
c.839C>T (p.Thr280Ile)
c.209C>T (p.Thr70Ile)
c.761C>T (p.Thr254Ile)
 ClinVar dbSNP
4g.47406707A>CCA439245694GABRB1c.861A>C (p.Thr287=)
c.840A>C (p.Thr280=)
c.210A>C (p.Thr70=)
c.762A>C (p.Thr254=)
 gnomAD v4
4g.47406707A>GCA439245695GABRB1c.861A>G (p.Thr287=)
c.840A>G (p.Thr280=)
c.210A>G (p.Thr70=)
c.762A>G (p.Thr254=)
4g.47406707A>TCA439245696GABRB1c.861A>T (p.Thr287=)
c.840A>T (p.Thr280=)
c.210A>T (p.Thr70=)
c.762A>T (p.Thr254=)
4g.47406708A>CCA356811261GABRB1c.862A>C (p.Thr288Pro)
c.841A>C (p.Thr281Pro)
c.211A>C (p.Thr71Pro)
c.763A>C (p.Thr255Pro)
4g.47406708A>GCA356811263GABRB1c.862A>G (p.Thr288Ala)
c.841A>G (p.Thr281Ala)
c.211A>G (p.Thr71Ala)
c.763A>G (p.Thr255Ala)
 ClinVar
4g.47406708A>TCA356811262GABRB1c.862A>T (p.Thr288Ser)
c.841A>T (p.Thr281Ser)
c.211A>T (p.Thr71Ser)
c.763A>T (p.Thr255Ser)
4g.47406709C>ACA356811264GABRB1c.863C>A (p.Thr288Asn)
c.842C>A (p.Thr281Asn)
c.212C>A (p.Thr71Asn)
c.764C>A (p.Thr255Asn)
4g.47406709C>GCA356811265GABRB1c.863C>G (p.Thr288Ser)
c.842C>G (p.Thr281Ser)
c.212C>G (p.Thr71Ser)
c.764C>G (p.Thr255Ser)
4g.47406709C>TCA356811266GABRB1c.863C>T (p.Thr288Ile)
c.842C>T (p.Thr281Ile)
c.212C>T (p.Thr71Ile)
c.764C>T (p.Thr255Ile)
4g.47406710C>ACA97302420GABRB1c.864C>A (p.Thr288=)
c.843C>A (p.Thr281=)
c.213C>A (p.Thr71=)
c.765C>A (p.Thr255=)
 dbSNP gnomAD v2 gnomAD v4
4g.47406710C=CA1455320419GABRB1c.864C= (p.Thr288=)
c.843C= (p.Thr281=)
c.213C= (p.Thr71=)
c.765C= (p.Thr255=)
4g.47406710C>GCA439245697GABRB1c.864C>G (p.Thr288=)
c.843C>G (p.Thr281=)
c.213C>G (p.Thr71=)
c.765C>G (p.Thr255=)
4g.47406710C>TCA439245698GABRB1c.864C>T (p.Thr288=)
c.843C>T (p.Thr281=)
c.213C>T (p.Thr71=)
c.765C>T (p.Thr255=)
4g.47406711A>CCA356811267GABRB1c.865A>C (p.Ile289Leu)
c.844A>C (p.Ile282Leu)
c.214A>C (p.Ile72Leu)
c.766A>C (p.Ile256Leu)
4g.47406711A>GCA356811269GABRB1c.865A>G (p.Ile289Val)
c.844A>G (p.Ile282Val)
c.214A>G (p.Ile72Val)
c.766A>G (p.Ile256Val)
4g.47406711A>TCA356811268GABRB1c.865A>T (p.Ile289Phe)
c.844A>T (p.Ile282Phe)
c.214A>T (p.Ile72Phe)
c.766A>T (p.Ile256Phe)
4g.47406712T>ACA2907707GABRB1c.866T>A (p.Ile289Asn)
c.845T>A (p.Ile282Asn)
c.215T>A (p.Ile72Asn)
c.767T>A (p.Ile256Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406712T>CCA356811270GABRB1c.866T>C (p.Ile289Thr)
c.845T>C (p.Ile282Thr)
c.215T>C (p.Ile72Thr)
c.767T>C (p.Ile256Thr)
 ClinVar gnomAD v3 gnomAD v4
4g.47406712T>GCA356811271GABRB1c.866T>G (p.Ile289Ser)
c.845T>G (p.Ile282Ser)
c.215T>G (p.Ile72Ser)
c.767T>G (p.Ile256Ser)
4g.47406712T=CA1455320421GABRB1c.866T= (p.Ile289=)
c.845T= (p.Ile282=)
c.215T= (p.Ile72=)
c.767T= (p.Ile256=)
4g.47406713C>ACA439245741GABRB1c.867C>A (p.Ile289=)
c.846C>A (p.Ile282=)
c.216C>A (p.Ile72=)
c.768C>A (p.Ile256=)
4g.47406713C=CA1455320426GABRB1c.867C= (p.Ile289=)
c.846C= (p.Ile282=)
c.216C= (p.Ile72=)
c.768C= (p.Ile256=)
4g.47406713C>GCA356811272GABRB1c.867C>G (p.Ile289Met)
c.846C>G (p.Ile282Met)
c.216C>G (p.Ile72Met)
c.768C>G (p.Ile256Met)
4g.47406713C>TCA439245742GABRB1c.867C>T (p.Ile289=)
c.846C>T (p.Ile282=)
c.216C>T (p.Ile72=)
c.768C>T (p.Ile256=)
 dbSNP gnomAD v3 gnomAD v4
4g.47406714A>CCA356811273GABRB1c.868A>C (p.Ser290Arg)
c.847A>C (p.Ser283Arg)
c.217A>C (p.Ser73Arg)
c.769A>C (p.Ser257Arg)
4g.47406714A>GCA356811274GABRB1c.868A>G (p.Ser290Gly)
c.847A>G (p.Ser283Gly)
c.217A>G (p.Ser73Gly)
c.769A>G (p.Ser257Gly)
4g.47406714A>TCA356811275GABRB1c.868A>T (p.Ser290Cys)
c.847A>T (p.Ser283Cys)
c.217A>T (p.Ser73Cys)
c.769A>T (p.Ser257Cys)
4g.47406715G>ACA356811276GABRB1c.869G>A (p.Ser290Asn)
c.848G>A (p.Ser283Asn)
c.218G>A (p.Ser73Asn)
c.770G>A (p.Ser257Asn)
4g.47406715G>CCA356811277GABRB1c.869G>C (p.Ser290Thr)
c.848G>C (p.Ser283Thr)
c.218G>C (p.Ser73Thr)
c.770G>C (p.Ser257Thr)
4g.47406715G=CA1455320430GABRB1c.869G= (p.Ser290=)
c.848G= (p.Ser283=)
c.218G= (p.Ser73=)
c.770G= (p.Ser257=)
4g.47406715G>TCA97302421GABRB1c.869G>T (p.Ser290Ile)
c.848G>T (p.Ser283Ile)
c.218G>T (p.Ser73Ile)
c.770G>T (p.Ser257Ile)
 dbSNP
4g.47406716C>ACA356811278GABRB1c.870C>A (p.Ser290Arg)
c.849C>A (p.Ser283Arg)
c.219C>A (p.Ser73Arg)
c.771C>A (p.Ser257Arg)
4g.47406716C>GCA356811279GABRB1c.870C>G (p.Ser290Arg)
c.849C>G (p.Ser283Arg)
c.219C>G (p.Ser73Arg)
c.771C>G (p.Ser257Arg)
4g.47406716C>TCA439245746GABRB1c.870C>T (p.Ser290=)
c.849C>T (p.Ser283=)
c.219C>T (p.Ser73=)
c.771C>T (p.Ser257=)
 gnomAD v4
4g.47406717A>CCA356811280GABRB1c.871A>C (p.Thr291Pro)
c.850A>C (p.Thr284Pro)
c.220A>C (p.Thr74Pro)
c.772A>C (p.Thr258Pro)
4g.47406717A>GCA356811282GABRB1c.871A>G (p.Thr291Ala)
c.850A>G (p.Thr284Ala)
c.220A>G (p.Thr74Ala)
c.772A>G (p.Thr258Ala)
4g.47406717A>TCA356811281GABRB1c.871A>T (p.Thr291Ser)
c.850A>T (p.Thr284Ser)
c.220A>T (p.Thr74Ser)
c.772A>T (p.Thr258Ser)
4g.47406718C>ACA356811283GABRB1c.872C>A (p.Thr291Asn)
c.851C>A (p.Thr284Asn)
c.221C>A (p.Thr74Asn)
c.773C>A (p.Thr258Asn)
4g.47406718C>GCA356811284GABRB1c.872C>G (p.Thr291Ser)
c.851C>G (p.Thr284Ser)
c.221C>G (p.Thr74Ser)
c.773C>G (p.Thr258Ser)
4g.47406718C>TCA356811285GABRB1c.872C>T (p.Thr291Ile)
c.851C>T (p.Thr284Ile)
c.221C>T (p.Thr74Ile)
c.773C>T (p.Thr258Ile)
 COSMIC
4g.47406720dupCA645538228GABRB1c.874dup (p.His292ProfsTer16)
c.853dup (p.His285ProfsTer16)
c.223dup (p.His75ProfsTer16)
c.775dup (p.His259ProfsTer16)
 COSMIC
4g.47406719C>ACA439245748GABRB1c.873C>A (p.Thr291=)
c.852C>A (p.Thr284=)
c.222C>A (p.Thr74=)
c.774C>A (p.Thr258=)
4g.47406719C=CA1455320434GABRB1c.873C= (p.Thr291=)
c.852C= (p.Thr284=)
c.222C= (p.Thr74=)
c.774C= (p.Thr258=)
4g.47406719C>GCA439245750GABRB1c.873C>G (p.Thr291=)
c.852C>G (p.Thr284=)
c.222C>G (p.Thr74=)
c.774C>G (p.Thr258=)
4g.47406719C>TCA2907708GABRB1c.873C>T (p.Thr291=)
c.852C>T (p.Thr284=)
c.222C>T (p.Thr74=)
c.774C>T (p.Thr258=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched