Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
4g.47406720C>ACA356811286GABRB1c.874C>A (p.His292Asn)
c.853C>A (p.His285Asn)
c.223C>A (p.His75Asn)
c.775C>A (p.His259Asn)
4g.47406720C>GCA356811287GABRB1c.874C>G (p.His292Asp)
c.853C>G (p.His285Asp)
c.223C>G (p.His75Asp)
c.775C>G (p.His259Asp)
4g.47406720C>TCA356811288GABRB1c.874C>T (p.His292Tyr)
c.853C>T (p.His285Tyr)
c.223C>T (p.His75Tyr)
c.775C>T (p.His259Tyr)
4g.47406721A>CCA356811289GABRB1c.875A>C (p.His292Pro)
c.854A>C (p.His285Pro)
c.224A>C (p.His75Pro)
c.776A>C (p.His259Pro)
4g.47406721A>GCA356811290GABRB1c.875A>G (p.His292Arg)
c.854A>G (p.His285Arg)
c.224A>G (p.His75Arg)
c.776A>G (p.His259Arg)
4g.47406721A>TCA356811291GABRB1c.875A>T (p.His292Leu)
c.854A>T (p.His285Leu)
c.224A>T (p.His75Leu)
c.776A>T (p.His259Leu)
4g.47406722C>ACA356811292GABRB1c.876C>A (p.His292Gln)
c.855C>A (p.His285Gln)
c.225C>A (p.His75Gln)
c.777C>A (p.His259Gln)
4g.47406722C>GCA356811293GABRB1c.876C>G (p.His292Gln)
c.855C>G (p.His285Gln)
c.225C>G (p.His75Gln)
c.777C>G (p.His259Gln)
4g.47406722C>TCA439245752GABRB1c.876C>T (p.His292=)
c.855C>T (p.His285=)
c.225C>T (p.His75=)
c.777C>T (p.His259=)
 ClinVar dbSNP gnomAD v4
4g.47406723C>ACA356811296GABRB1c.877C>A (p.Leu293Ile)
c.856C>A (p.Leu286Ile)
c.226C>A (p.Leu76Ile)
c.778C>A (p.Leu260Ile)
 COSMIC
4g.47406723C>GCA356811295GABRB1c.877C>G (p.Leu293Val)
c.856C>G (p.Leu286Val)
c.226C>G (p.Leu76Val)
c.778C>G (p.Leu260Val)
4g.47406723C>TCA356811294GABRB1c.877C>T (p.Leu293Phe)
c.856C>T (p.Leu286Phe)
c.226C>T (p.Leu76Phe)
c.778C>T (p.Leu260Phe)
4g.47406724T>ACA356811297GABRB1c.878T>A (p.Leu293His)
c.857T>A (p.Leu286His)
c.227T>A (p.Leu76His)
c.779T>A (p.Leu260His)
4g.47406724T>CCA356811298GABRB1c.878T>C (p.Leu293Pro)
c.857T>C (p.Leu286Pro)
c.227T>C (p.Leu76Pro)
c.779T>C (p.Leu260Pro)
4g.47406724T>GCA356811299GABRB1c.878T>G (p.Leu293Arg)
c.857T>G (p.Leu286Arg)
c.227T>G (p.Leu76Arg)
c.779T>G (p.Leu260Arg)
4g.47406725C>ACA439245754GABRB1c.879C>A (p.Leu293=)
c.858C>A (p.Leu286=)
c.228C>A (p.Leu76=)
c.780C>A (p.Leu260=)
4g.47406725C=CA1455320439GABRB1c.879C= (p.Leu293=)
c.858C= (p.Leu286=)
c.228C= (p.Leu76=)
c.780C= (p.Leu260=)
4g.47406725C>GCA439245755GABRB1c.879C>G (p.Leu293=)
c.858C>G (p.Leu286=)
c.228C>G (p.Leu76=)
c.780C>G (p.Leu260=)
4g.47406725C>TCA2907709GABRB1c.879C>T (p.Leu293=)
c.858C>T (p.Leu286=)
c.228C>T (p.Leu76=)
c.780C>T (p.Leu260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406726A=CA1455320452GABRB1c.880A= (p.Arg294=)
c.859A= (p.Arg287=)
c.229A= (p.Arg77=)
c.781A= (p.Arg261=)
4g.47406726A>CCA439245756GABRB1c.880A>C (p.Arg294=)
c.859A>C (p.Arg287=)
c.229A>C (p.Arg77=)
c.781A>C (p.Arg261=)
 dbSNP
4g.47406726A>GCA97302422GABRB1c.880A>G (p.Arg294Gly)
c.859A>G (p.Arg287Gly)
c.229A>G (p.Arg77Gly)
c.781A>G (p.Arg261Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.47406726A>TCA356811300GABRB1c.880A>T (p.Arg294Trp)
c.859A>T (p.Arg287Trp)
c.229A>T (p.Arg77Trp)
c.781A>T (p.Arg261Trp)
4g.47406726_47406727delinsAGCA1455320450GABRB1c.880_881delinsAG (p.Arg294=)
c.859_860delinsAG (p.Arg287=)
c.229_230delinsAG (p.Arg77=)
c.781_782delinsAG (p.Arg261=)
4g.47406727G>ACA356811301GABRB1c.881G>A (p.Arg294Lys)
c.860G>A (p.Arg287Lys)
c.230G>A (p.Arg77Lys)
c.782G>A (p.Arg261Lys)
4g.47406727G>CCA356811302GABRB1c.881G>C (p.Arg294Thr)
c.860G>C (p.Arg287Thr)
c.230G>C (p.Arg77Thr)
c.782G>C (p.Arg261Thr)
4g.47406727G>TCA356811303GABRB1c.881G>T (p.Arg294Met)
c.860G>T (p.Arg287Met)
c.230G>T (p.Arg77Met)
c.782G>T (p.Arg261Met)
4g.47406729delCA97302423GABRB1c.883del (p.Glu295ArgfsTer16)
c.862del (p.Glu288ArgfsTer16)
c.232del (p.Glu78ArgfsTer16)
c.784del (p.Glu262ArgfsTer16)
 dbSNP
4g.47406728G>ACA2907710GABRB1c.882G>A (p.Arg294=)
c.861G>A (p.Arg287=)
c.231G>A (p.Arg77=)
c.783G>A (p.Arg261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406728G>CCA356811307GABRB1c.882G>C (p.Arg294Ser)
c.861G>C (p.Arg287Ser)
c.231G>C (p.Arg77Ser)
c.783G>C (p.Arg261Ser)
4g.47406728G=CA1455320458GABRB1c.882G= (p.Arg294=)
c.861G= (p.Arg287=)
c.231G= (p.Arg77=)
c.783G= (p.Arg261=)
4g.47406728G>TCA356811309GABRB1c.882G>T (p.Arg294Ser)
c.861G>T (p.Arg287Ser)
c.231G>T (p.Arg77Ser)
c.783G>T (p.Arg261Ser)
4g.47406729G>ACA356811313GABRB1c.883G>A (p.Glu295Lys)
c.862G>A (p.Glu288Lys)
c.232G>A (p.Glu78Lys)
c.784G>A (p.Glu262Lys)
4g.47406729G>CCA356811315GABRB1c.883G>C (p.Glu295Gln)
c.862G>C (p.Glu288Gln)
c.232G>C (p.Glu78Gln)
c.784G>C (p.Glu262Gln)
4g.47406729G>TCA356811311GABRB1c.883G>T (p.Glu295Ter)
c.862G>T (p.Glu288Ter)
c.232G>T (p.Glu78Ter)
c.784G>T (p.Glu262Ter)
4g.47406730A>CCA356811317GABRB1c.884A>C (p.Glu295Ala)
c.863A>C (p.Glu288Ala)
c.233A>C (p.Glu78Ala)
c.785A>C (p.Glu262Ala)
4g.47406730A>GCA356811319GABRB1c.884A>G (p.Glu295Gly)
c.863A>G (p.Glu288Gly)
c.233A>G (p.Glu78Gly)
c.785A>G (p.Glu262Gly)
4g.47406730A>TCA356811318GABRB1c.884A>T (p.Glu295Val)
c.863A>T (p.Glu288Val)
c.233A>T (p.Glu78Val)
c.785A>T (p.Glu262Val)
4g.47406731G>ACA439245758GABRB1c.885G>A (p.Glu295=)
c.864G>A (p.Glu288=)
c.234G>A (p.Glu78=)
c.786G>A (p.Glu262=)
 gnomAD v4
4g.47406731G>CCA356811322GABRB1c.885G>C (p.Glu295Asp)
c.864G>C (p.Glu288Asp)
c.234G>C (p.Glu78Asp)
c.786G>C (p.Glu262Asp)
 gnomAD v4
4g.47406731G>TCA356811324GABRB1c.885G>T (p.Glu295Asp)
c.864G>T (p.Glu288Asp)
c.234G>T (p.Glu78Asp)
c.786G>T (p.Glu262Asp)
4g.47406732A>CCA356811327GABRB1c.886A>C (p.Thr296Pro)
c.865A>C (p.Thr289Pro)
c.235A>C (p.Thr79Pro)
c.787A>C (p.Thr263Pro)
4g.47406732A>GCA356811329GABRB1c.886A>G (p.Thr296Ala)
c.865A>G (p.Thr289Ala)
c.235A>G (p.Thr79Ala)
c.787A>G (p.Thr263Ala)
4g.47406732A>TCA356811330GABRB1c.886A>T (p.Thr296Ser)
c.865A>T (p.Thr289Ser)
c.235A>T (p.Thr79Ser)
c.787A>T (p.Thr263Ser)
4g.47406733C>ACA356811333GABRB1c.887C>A (p.Thr296Asn)
c.866C>A (p.Thr289Asn)
c.236C>A (p.Thr79Asn)
c.788C>A (p.Thr263Asn)
4g.47406733C>GCA356811334GABRB1c.887C>G (p.Thr296Ser)
c.866C>G (p.Thr289Ser)
c.236C>G (p.Thr79Ser)
c.788C>G (p.Thr263Ser)
4g.47406733C>TCA356811336GABRB1c.887C>T (p.Thr296Ile)
c.866C>T (p.Thr289Ile)
c.236C>T (p.Thr79Ile)
c.788C>T (p.Thr263Ile)
4g.47406734C>ACA439245760GABRB1c.888C>A (p.Thr296=)
c.867C>A (p.Thr289=)
c.237C>A (p.Thr79=)
c.789C>A (p.Thr263=)
 COSMIC
4g.47406734C>GCA439245761GABRB1c.888C>G (p.Thr296=)
c.867C>G (p.Thr289=)
c.237C>G (p.Thr79=)
c.789C>G (p.Thr263=)
4g.47406734C>TCA439245762GABRB1c.888C>T (p.Thr296=)
c.867C>T (p.Thr289=)
c.237C>T (p.Thr79=)
c.789C>T (p.Thr263=)
 COSMIC
4g.47406735C>ACA356811338GABRB1c.889C>A (p.Leu297Met)
c.868C>A (p.Leu290Met)
c.238C>A (p.Leu80Met)
c.790C>A (p.Leu264Met)
4g.47406735C>GCA356811340GABRB1c.889C>G (p.Leu297Val)
c.868C>G (p.Leu290Val)
c.238C>G (p.Leu80Val)
c.790C>G (p.Leu264Val)
4g.47406735C>TCA439245763GABRB1c.889C>T (p.Leu297=)
c.868C>T (p.Leu290=)
c.238C>T (p.Leu80=)
c.790C>T (p.Leu264=)
 gnomAD v4
4g.47406736T>ACA356811342GABRB1c.890T>A (p.Leu297Gln)
c.869T>A (p.Leu290Gln)
c.239T>A (p.Leu80Gln)
c.791T>A (p.Leu264Gln)
4g.47406736T>CCA356811344GABRB1c.890T>C (p.Leu297Pro)
c.869T>C (p.Leu290Pro)
c.239T>C (p.Leu80Pro)
c.791T>C (p.Leu264Pro)
4g.47406736T>GCA356811346GABRB1c.890T>G (p.Leu297Arg)
c.869T>G (p.Leu290Arg)
c.239T>G (p.Leu80Arg)
c.791T>G (p.Leu264Arg)
4g.47406737G>ACA439245764GABRB1c.891G>A (p.Leu297=)
c.870G>A (p.Leu290=)
c.240G>A (p.Leu80=)
c.792G>A (p.Leu264=)
4g.47406737G>CCA439245765GABRB1c.891G>C (p.Leu297=)
c.870G>C (p.Leu290=)
c.240G>C (p.Leu80=)
c.792G>C (p.Leu264=)
4g.47406737G>TCA439245766GABRB1c.891G>T (p.Leu297=)
c.870G>T (p.Leu290=)
c.240G>T (p.Leu80=)
c.792G>T (p.Leu264=)
4g.47406738C>ACA356811352GABRB1c.892C>A (p.Pro298Thr)
c.871C>A (p.Pro291Thr)
c.241C>A (p.Pro81Thr)
c.793C>A (p.Pro265Thr)
4g.47406738C>GCA356811348GABRB1c.892C>G (p.Pro298Ala)
c.871C>G (p.Pro291Ala)
c.241C>G (p.Pro81Ala)
c.793C>G (p.Pro265Ala)
4g.47406738C>TCA356811350GABRB1c.892C>T (p.Pro298Ser)
c.871C>T (p.Pro291Ser)
c.241C>T (p.Pro81Ser)
c.793C>T (p.Pro265Ser)
4g.47406739C>ACA356811354GABRB1c.893C>A (p.Pro298Gln)
c.872C>A (p.Pro291Gln)
c.242C>A (p.Pro81Gln)
c.794C>A (p.Pro265Gln)
4g.47406739C>GCA356811355GABRB1c.893C>G (p.Pro298Arg)
c.872C>G (p.Pro291Arg)
c.242C>G (p.Pro81Arg)
c.794C>G (p.Pro265Arg)
4g.47406739C>TCA356811357GABRB1c.893C>T (p.Pro298Leu)
c.872C>T (p.Pro291Leu)
c.242C>T (p.Pro81Leu)
c.794C>T (p.Pro265Leu)
4g.47406740A>CCA439245767GABRB1c.894A>C (p.Pro298=)
c.873A>C (p.Pro291=)
c.243A>C (p.Pro81=)
c.795A>C (p.Pro265=)
4g.47406740A>GCA439245768GABRB1c.894A>G (p.Pro298=)
c.873A>G (p.Pro291=)
c.243A>G (p.Pro81=)
c.795A>G (p.Pro265=)
4g.47406740A>TCA439245769GABRB1c.894A>T (p.Pro298=)
c.873A>T (p.Pro291=)
c.243A>T (p.Pro81=)
c.795A>T (p.Pro265=)
4g.47406741A>CCA356811360GABRB1c.895A>C (p.Lys299Gln)
c.874A>C (p.Lys292Gln)
c.244A>C (p.Lys82Gln)
c.796A>C (p.Lys266Gln)
4g.47406741A>GCA356811361GABRB1c.895A>G (p.Lys299Glu)
c.874A>G (p.Lys292Glu)
c.244A>G (p.Lys82Glu)
c.796A>G (p.Lys266Glu)
4g.47406741A>TCA356811362GABRB1c.895A>T (p.Lys299Ter)
c.874A>T (p.Lys292Ter)
c.244A>T (p.Lys82Ter)
c.796A>T (p.Lys266Ter)
4g.47406742A>CCA356811365GABRB1c.896A>C (p.Lys299Thr)
c.875A>C (p.Lys292Thr)
c.245A>C (p.Lys82Thr)
c.797A>C (p.Lys266Thr)
4g.47406742A>GCA356811367GABRB1c.896A>G (p.Lys299Arg)
c.875A>G (p.Lys292Arg)
c.245A>G (p.Lys82Arg)
c.797A>G (p.Lys266Arg)
4g.47406742A>TCA356811368GABRB1c.896A>T (p.Lys299Met)
c.875A>T (p.Lys292Met)
c.245A>T (p.Lys82Met)
c.797A>T (p.Lys266Met)
4g.47406743G>ACA2907711GABRB1c.897G>A (p.Lys299=)
c.876G>A (p.Lys292=)
c.246G>A (p.Lys82=)
c.798G>A (p.Lys266=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406743G>CCA356811372GABRB1c.897G>C (p.Lys299Asn)
c.876G>C (p.Lys292Asn)
c.246G>C (p.Lys82Asn)
c.798G>C (p.Lys266Asn)
4g.47406743G=CA1455320462GABRB1c.897G= (p.Lys299=)
c.876G= (p.Lys292=)
c.246G= (p.Lys82=)
c.798G= (p.Lys266=)
4g.47406743G>TCA356811373GABRB1c.897G>T (p.Lys299Asn)
c.876G>T (p.Lys292Asn)
c.246G>T (p.Lys82Asn)
c.798G>T (p.Lys266Asn)
4g.47406744A>CCA356811376GABRB1c.898A>C (p.Ile300Leu)
c.877A>C (p.Ile293Leu)
c.247A>C (p.Ile83Leu)
c.799A>C (p.Ile267Leu)
4g.47406744A>GCA356811380GABRB1c.898A>G (p.Ile300Val)
c.877A>G (p.Ile293Val)
c.247A>G (p.Ile83Val)
c.799A>G (p.Ile267Val)
4g.47406744A>TCA356811378GABRB1c.898A>T (p.Ile300Phe)
c.877A>T (p.Ile293Phe)
c.247A>T (p.Ile83Phe)
c.799A>T (p.Ile267Phe)
 ClinVar
4g.47406745T>ACA356811382GABRB1c.899T>A (p.Ile300Asn)
c.878T>A (p.Ile293Asn)
c.248T>A (p.Ile83Asn)
c.800T>A (p.Ile267Asn)
4g.47406745T>CCA356811384GABRB1c.899T>C (p.Ile300Thr)
c.878T>C (p.Ile293Thr)
c.248T>C (p.Ile83Thr)
c.800T>C (p.Ile267Thr)
4g.47406745T>GCA356811386GABRB1c.899T>G (p.Ile300Ser)
c.878T>G (p.Ile293Ser)
c.248T>G (p.Ile83Ser)
c.800T>G (p.Ile267Ser)
4g.47406746C>ACA439245772GABRB1c.900C>A (p.Ile300=)
c.879C>A (p.Ile293=)
c.249C>A (p.Ile83=)
c.801C>A (p.Ile267=)
4g.47406746C>GCA356811388GABRB1c.900C>G (p.Ile300Met)
c.879C>G (p.Ile293Met)
c.249C>G (p.Ile83Met)
c.801C>G (p.Ile267Met)
4g.47406746C>TCA439245773GABRB1c.900C>T (p.Ile300=)
c.879C>T (p.Ile293=)
c.249C>T (p.Ile83=)
c.801C>T (p.Ile267=)
 gnomAD v4 COSMIC
4g.47406746_47406747delinsTTCA645538229GABRB1c.900_901delinsTT (p.Pro301Ser)
c.879_880delinsTT (p.Pro294Ser)
c.249_250delinsTT (p.Pro84Ser)
c.801_802delinsTT (p.Pro268Ser)
 COSMIC
4g.47406747C>ACA356811390GABRB1c.901C>A (p.Pro301Thr)
c.880C>A (p.Pro294Thr)
c.250C>A (p.Pro84Thr)
c.802C>A (p.Pro268Thr)
4g.47406747C>GCA356811392GABRB1c.901C>G (p.Pro301Ala)
c.880C>G (p.Pro294Ala)
c.250C>G (p.Pro84Ala)
c.802C>G (p.Pro268Ala)
4g.47406747C>TCA356811394GABRB1c.901C>T (p.Pro301Ser)
c.880C>T (p.Pro294Ser)
c.250C>T (p.Pro84Ser)
c.802C>T (p.Pro268Ser)
4g.47406748C>ACA356811396GABRB1c.902C>A (p.Pro301His)
c.881C>A (p.Pro294His)
c.251C>A (p.Pro84His)
c.803C>A (p.Pro268His)
4g.47406748C>GCA356811398GABRB1c.902C>G (p.Pro301Arg)
c.881C>G (p.Pro294Arg)
c.251C>G (p.Pro84Arg)
c.803C>G (p.Pro268Arg)
 gnomAD v4
4g.47406748C>TCA356811399GABRB1c.902C>T (p.Pro301Leu)
c.881C>T (p.Pro294Leu)
c.251C>T (p.Pro84Leu)
c.803C>T (p.Pro268Leu)
 COSMIC
4g.47406749T>ACA439245774GABRB1c.903T>A (p.Pro301=)
c.882T>A (p.Pro294=)
c.252T>A (p.Pro84=)
c.804T>A (p.Pro268=)
4g.47406749T>CCA439245775GABRB1c.903T>C (p.Pro301=)
c.882T>C (p.Pro294=)
c.252T>C (p.Pro84=)
c.804T>C (p.Pro268=)
 dbSNP
4g.47406749T>GCA439245776GABRB1c.903T>G (p.Pro301=)
c.882T>G (p.Pro294=)
c.252T>G (p.Pro84=)
c.804T>G (p.Pro268=)
4g.47406749T=CA1455320464GABRB1c.903T= (p.Pro301=)
c.882T= (p.Pro294=)
c.252T= (p.Pro84=)
c.804T= (p.Pro268=)
4g.47406750T>ACA356811406GABRB1c.904T>A (p.Tyr302Asn)
c.883T>A (p.Tyr295Asn)
c.253T>A (p.Tyr85Asn)
c.805T>A (p.Tyr269Asn)
4g.47406750T>CCA356811404GABRB1c.904T>C (p.Tyr302His)
c.883T>C (p.Tyr295His)
c.253T>C (p.Tyr85His)
c.805T>C (p.Tyr269His)
4g.47406750T>GCA356811402GABRB1c.904T>G (p.Tyr302Asp)
c.883T>G (p.Tyr295Asp)
c.253T>G (p.Tyr85Asp)
c.805T>G (p.Tyr269Asp)
4g.47406751A>CCA356811409GABRB1c.905A>C (p.Tyr302Ser)
c.884A>C (p.Tyr295Ser)
c.254A>C (p.Tyr85Ser)
c.806A>C (p.Tyr269Ser)
4g.47406751A>GCA356811410GABRB1c.905A>G (p.Tyr302Cys)
c.884A>G (p.Tyr295Cys)
c.254A>G (p.Tyr85Cys)
c.806A>G (p.Tyr269Cys)
4g.47406751A>TCA356811411GABRB1c.905A>T (p.Tyr302Phe)
c.884A>T (p.Tyr295Phe)
c.254A>T (p.Tyr85Phe)
c.806A>T (p.Tyr269Phe)
4g.47406752T>ACA356811413GABRB1c.906T>A (p.Tyr302Ter)
c.885T>A (p.Tyr295Ter)
c.255T>A (p.Tyr85Ter)
c.807T>A (p.Tyr269Ter)
4g.47406752T>CCA2907712GABRB1c.906T>C (p.Tyr302=)
c.885T>C (p.Tyr295=)
c.255T>C (p.Tyr85=)
c.807T>C (p.Tyr269=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.47406752T>GCA356811415GABRB1c.906T>G (p.Tyr302Ter)
c.885T>G (p.Tyr295Ter)
c.255T>G (p.Tyr85Ter)
c.807T>G (p.Tyr269Ter)
4g.47406752T=CA1455320468GABRB1c.906T= (p.Tyr302=)
c.885T= (p.Tyr295=)
c.255T= (p.Tyr85=)
c.807T= (p.Tyr269=)
4g.47406753G>ACA356811418GABRB1c.907G>A (p.Val303Ile)
c.886G>A (p.Val296Ile)
c.256G>A (p.Val86Ile)
c.808G>A (p.Val270Ile)
4g.47406753G>CCA356811419GABRB1c.907G>C (p.Val303Leu)
c.886G>C (p.Val296Leu)
c.256G>C (p.Val86Leu)
c.808G>C (p.Val270Leu)
4g.47406753G>TCA356811421GABRB1c.907G>T (p.Val303Phe)
c.886G>T (p.Val296Phe)
c.256G>T (p.Val86Phe)
c.808G>T (p.Val270Phe)
 COSMIC
4g.47406754T>ACA356811424GABRB1c.908T>A (p.Val303Asp)
c.887T>A (p.Val296Asp)
c.257T>A (p.Val86Asp)
c.809T>A (p.Val270Asp)
4g.47406754T>CCA356811425GABRB1c.908T>C (p.Val303Ala)
c.887T>C (p.Val296Ala)
c.257T>C (p.Val86Ala)
c.809T>C (p.Val270Ala)
4g.47406754T>GCA356811426GABRB1c.908T>G (p.Val303Gly)
c.887T>G (p.Val296Gly)
c.257T>G (p.Val86Gly)
c.809T>G (p.Val270Gly)
4g.47406755C>ACA439245778GABRB1c.909C>A (p.Val303=)
c.888C>A (p.Val296=)
c.258C>A (p.Val86=)
c.810C>A (p.Val270=)
4g.47406755C>GCA439245779GABRB1c.909C>G (p.Val303=)
c.888C>G (p.Val296=)
c.258C>G (p.Val86=)
c.810C>G (p.Val270=)
4g.47406755C>TCA439245781GABRB1c.909C>T (p.Val303=)
c.888C>T (p.Val296=)
c.258C>T (p.Val86=)
c.810C>T (p.Val270=)
4g.47406756A>CCA356811428GABRB1c.910A>C (p.Lys304Gln)
c.889A>C (p.Lys297Gln)
c.259A>C (p.Lys87Gln)
c.811A>C (p.Lys271Gln)
 COSMIC
4g.47406756A>GCA356811430GABRB1c.910A>G (p.Lys304Glu)
c.889A>G (p.Lys297Glu)
c.259A>G (p.Lys87Glu)
c.811A>G (p.Lys271Glu)
4g.47406756A>TCA356811427GABRB1c.910A>T (p.Lys304Ter)
c.889A>T (p.Lys297Ter)
c.259A>T (p.Lys87Ter)
c.811A>T (p.Lys271Ter)
4g.47406757A>CCA356811433GABRB1c.911A>C (p.Lys304Thr)
c.890A>C (p.Lys297Thr)
c.260A>C (p.Lys87Thr)
c.812A>C (p.Lys271Thr)
4g.47406757A>GCA356811434GABRB1c.911A>G (p.Lys304Arg)
c.890A>G (p.Lys297Arg)
c.260A>G (p.Lys87Arg)
c.812A>G (p.Lys271Arg)
4g.47406757A>TCA356811436GABRB1c.911A>T (p.Lys304Ile)
c.890A>T (p.Lys297Ile)
c.260A>T (p.Lys87Ile)
c.812A>T (p.Lys271Ile)
4g.47406758A=CA1455320471GABRB1c.912A= (p.Lys304=)
c.891A= (p.Lys297=)
c.261A= (p.Lys87=)
c.813A= (p.Lys271=)
4g.47406758A>CCA356811438GABRB1c.912A>C (p.Lys304Asn)
c.891A>C (p.Lys297Asn)
c.261A>C (p.Lys87Asn)
c.813A>C (p.Lys271Asn)
4g.47406758A>GCA97302424GABRB1c.912A>G (p.Lys304=)
c.891A>G (p.Lys297=)
c.261A>G (p.Lys87=)
c.813A>G (p.Lys271=)
 dbSNP gnomAD v3 gnomAD v4
4g.47406758A>TCA356811440GABRB1c.912A>T (p.Lys304Asn)
c.891A>T (p.Lys297Asn)
c.261A>T (p.Lys87Asn)
c.813A>T (p.Lys271Asn)
4g.47406759G>ACA356811446GABRB1c.913G>A (p.Ala305Thr)
c.892G>A (p.Ala298Thr)
c.262G>A (p.Ala88Thr)
c.814G>A (p.Ala272Thr)
 ClinVar
4g.47406759G>CCA356811444GABRB1c.913G>C (p.Ala305Pro)
c.892G>C (p.Ala298Pro)
c.262G>C (p.Ala88Pro)
c.814G>C (p.Ala272Pro)
4g.47406759G>TCA356811442GABRB1c.913G>T (p.Ala305Ser)
c.892G>T (p.Ala298Ser)
c.262G>T (p.Ala88Ser)
c.814G>T (p.Ala272Ser)
4g.47406760C>ACA356811448GABRB1c.914C>A (p.Ala305Glu)
c.893C>A (p.Ala298Glu)
c.263C>A (p.Ala88Glu)
c.815C>A (p.Ala272Glu)
 gnomAD v4
4g.47406760C=CA1455320474GABRB1c.914C= (p.Ala305=)
c.893C= (p.Ala298=)
c.263C= (p.Ala88=)
c.815C= (p.Ala272=)
4g.47406760C>GCA356811450GABRB1c.914C>G (p.Ala305Gly)
c.893C>G (p.Ala298Gly)
c.263C>G (p.Ala88Gly)
c.815C>G (p.Ala272Gly)
4g.47406760C>TCA356811452GABRB1c.914C>T (p.Ala305Val)
c.893C>T (p.Ala298Val)
c.263C>T (p.Ala88Val)
c.815C>T (p.Ala272Val)
 ClinVar dbSNP
4g.47406761G>ACA2907713GABRB1c.915G>A (p.Ala305=)
c.894G>A (p.Ala298=)
c.264G>A (p.Ala88=)
c.816G>A (p.Ala272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.47406761G>CCA439245783GABRB1c.915G>C (p.Ala305=)
c.894G>C (p.Ala298=)
c.264G>C (p.Ala88=)
c.816G>C (p.Ala272=)
4g.47406761G=CA1455320478GABRB1c.915G= (p.Ala305=)
c.894G= (p.Ala298=)
c.264G= (p.Ala88=)
c.816G= (p.Ala272=)
4g.47406761G>TCA439245785GABRB1c.915G>T (p.Ala305=)
c.894G>T (p.Ala298=)
c.264G>T (p.Ala88=)
c.816G>T (p.Ala272=)
4g.47406762A>CCA356811455GABRB1c.916A>C (p.Ile306Leu)
c.895A>C (p.Ile299Leu)
c.265A>C (p.Ile89Leu)
c.817A>C (p.Ile273Leu)
4g.47406762A>GCA356811457GABRB1c.916A>G (p.Ile306Val)
c.895A>G (p.Ile299Val)
c.265A>G (p.Ile89Val)
c.817A>G (p.Ile273Val)
4g.47406762A>TCA356811458GABRB1c.916A>T (p.Ile306Phe)
c.895A>T (p.Ile299Phe)
c.265A>T (p.Ile89Phe)
c.817A>T (p.Ile273Phe)
4g.47406763T>ACA356811460GABRB1c.917T>A (p.Ile306Asn)
c.896T>A (p.Ile299Asn)
c.266T>A (p.Ile89Asn)
c.818T>A (p.Ile273Asn)
 ClinVar
4g.47406763T>CCA356811462GABRB1c.917T>C (p.Ile306Thr)
c.896T>C (p.Ile299Thr)
c.266T>C (p.Ile89Thr)
c.818T>C (p.Ile273Thr)
4g.47406763T>GCA356811461GABRB1c.917T>G (p.Ile306Ser)
c.896T>G (p.Ile299Ser)
c.266T>G (p.Ile89Ser)
c.818T>G (p.Ile273Ser)
4g.47406764T>ACA439245786GABRB1c.918T>A (p.Ile306=)
c.897T>A (p.Ile299=)
c.267T>A (p.Ile89=)
c.819T>A (p.Ile273=)
4g.47406764T>CCA439245787GABRB1c.918T>C (p.Ile306=)
c.897T>C (p.Ile299=)
c.267T>C (p.Ile89=)
c.819T>C (p.Ile273=)
 gnomAD v4
4g.47406764T>GCA356811464GABRB1c.918T>G (p.Ile306Met)
c.897T>G (p.Ile299Met)
c.267T>G (p.Ile89Met)
c.819T>G (p.Ile273Met)
4g.47406765G>ACA356811466GABRB1c.919G>A (p.Asp307Asn)
c.898G>A (p.Asp300Asn)
c.268G>A (p.Asp90Asn)
c.820G>A (p.Asp274Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.47406765G>CCA356811467GABRB1c.919G>C (p.Asp307His)
c.898G>C (p.Asp300His)
c.268G>C (p.Asp90His)
c.820G>C (p.Asp274His)
 dbSNP
4g.47406765G=CA1455320481GABRB1c.919G= (p.Asp307=)
c.898G= (p.Asp300=)
c.268G= (p.Asp90=)
c.820G= (p.Asp274=)
4g.47406765G>TCA356811469GABRB1c.919G>T (p.Asp307Tyr)
c.898G>T (p.Asp300Tyr)
c.268G>T (p.Asp90Tyr)
c.820G>T (p.Asp274Tyr)

Number of alleles fetched