Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.162149125A>CCA362182328GABRG2c.941A>C
c.1060A>C (p.Thr354Pro)
n.831A>C
c.1023A>C
n.194A>C
c.655A>C (p.Thr219Pro)
c.940A>C (p.Thr314Pro)
c.817A>C
c.331A>C (p.Thr111Pro)
c.868A>C (p.Thr290Pro)
c.*140A>C (n.*140A>C)
c.874A>C (p.Thr292Pro)
n.238A>C
n.3471A>C
c.378A>C
c.853A>C (p.Thr285Pro)
c.*542A>C (n.*542A>C)
c.1061A>C (n.1061A>C)
c.931A>C (p.Thr311Pro)
c.923-2605A>C (n.923-2605A>C)
c.937A>C (p.Thr313Pro)
c.979A>C (p.Thr327Pro)
c.520A>C (p.Thr174Pro)
5g.162149125A>GCA362182329GABRG2c.941A>G
c.1060A>G (p.Thr354Ala)
n.831A>G
c.1023A>G
n.194A>G
c.655A>G (p.Thr219Ala)
c.940A>G (p.Thr314Ala)
c.817A>G
c.331A>G (p.Thr111Ala)
c.868A>G (p.Thr290Ala)
c.*140A>G (n.*140A>G)
c.874A>G (p.Thr292Ala)
n.238A>G
n.3471A>G
c.378A>G
c.853A>G (p.Thr285Ala)
c.*542A>G (n.*542A>G)
c.1061A>G (n.1061A>G)
c.931A>G (p.Thr311Ala)
c.923-2605A>G (n.923-2605A>G)
c.937A>G (p.Thr313Ala)
c.979A>G (p.Thr327Ala)
c.520A>G (p.Thr174Ala)
5g.162149125A>TCA362182330GABRG2c.941A>T
c.1060A>T (p.Thr354Ser)
n.831A>T
c.1023A>T
n.194A>T
c.655A>T (p.Thr219Ser)
c.940A>T (p.Thr314Ser)
c.817A>T
c.331A>T (p.Thr111Ser)
c.868A>T (p.Thr290Ser)
c.*140A>T (n.*140A>T)
c.874A>T (p.Thr292Ser)
n.238A>T
n.3471A>T
c.378A>T
c.853A>T (p.Thr285Ser)
c.*542A>T (n.*542A>T)
c.1061A>T (n.1061A>T)
c.931A>T (p.Thr311Ser)
c.923-2605A>T (n.923-2605A>T)
c.937A>T (p.Thr313Ser)
c.979A>T (p.Thr327Ser)
c.520A>T (p.Thr174Ser)
 ClinVar dbSNP
5g.162149126C>ACA362182331GABRG2c.942C>A
c.1061C>A (p.Thr354Lys)
n.832C>A
c.1024C>A
n.195C>A
c.656C>A (p.Thr219Lys)
c.941C>A (p.Thr314Lys)
c.818C>A
c.332C>A (p.Thr111Lys)
c.869C>A (p.Thr290Lys)
c.*141C>A (n.*141C>A)
c.875C>A (p.Thr292Lys)
n.239C>A
n.3472C>A
c.379C>A
c.854C>A (p.Thr285Lys)
c.*543C>A (n.*543C>A)
c.1062C>A (n.1062C>A)
c.932C>A (p.Thr311Lys)
c.923-2604C>A (n.923-2604C>A)
c.938C>A (p.Thr313Lys)
c.980C>A (p.Thr327Lys)
c.521C>A (p.Thr174Lys)
 ClinVar COSMIC
5g.162149126C>GCA362182332GABRG2c.942C>G
c.1061C>G (p.Thr354Arg)
n.832C>G
c.1024C>G
n.195C>G
c.656C>G (p.Thr219Arg)
c.941C>G (p.Thr314Arg)
c.818C>G
c.332C>G (p.Thr111Arg)
c.869C>G (p.Thr290Arg)
c.*141C>G (n.*141C>G)
c.875C>G (p.Thr292Arg)
n.239C>G
n.3472C>G
c.379C>G
c.854C>G (p.Thr285Arg)
c.*543C>G (n.*543C>G)
c.1062C>G (n.1062C>G)
c.932C>G (p.Thr311Arg)
c.923-2604C>G (n.923-2604C>G)
c.938C>G (p.Thr313Arg)
c.980C>G (p.Thr327Arg)
c.521C>G (p.Thr174Arg)
5g.162149126C>TCA362182333GABRG2c.942C>T
c.1061C>T (p.Thr354Ile)
n.832C>T
c.1024C>T
n.195C>T
c.656C>T (p.Thr219Ile)
c.941C>T (p.Thr314Ile)
c.818C>T
c.332C>T (p.Thr111Ile)
c.869C>T (p.Thr290Ile)
c.*141C>T (n.*141C>T)
c.875C>T (p.Thr292Ile)
n.239C>T
n.3472C>T
c.379C>T
c.854C>T (p.Thr285Ile)
c.*543C>T (n.*543C>T)
c.1062C>T (n.1062C>T)
c.932C>T (p.Thr311Ile)
c.923-2604C>T (n.923-2604C>T)
c.938C>T (p.Thr313Ile)
c.980C>T (p.Thr327Ile)
c.521C>T (p.Thr174Ile)
5g.162149127A=CA1596380230GABRG2c.943A=
c.1062A= (p.Thr354=)
n.833A=
c.1025A=
n.196A=
c.657A= (p.Thr219=)
c.942A= (p.Thr314=)
c.819A=
c.333A= (p.Thr111=)
c.870A= (p.Thr290=)
c.*142A= (n.*142A=)
c.876A= (p.Thr292=)
n.240A=
n.3473A=
c.380A=
c.855A= (p.Thr285=)
c.*544A= (n.*544A=)
c.1063A= (n.1063A=)
c.933A= (p.Thr311=)
c.923-2603A= (n.923-2603A=)
c.939A= (p.Thr313=)
c.981A= (p.Thr327=)
c.522A= (p.Thr174=)
5g.162149127A>CCA447610237GABRG2c.943A>C
c.1062A>C (p.Thr354=)
n.833A>C
c.1025A>C
n.196A>C
c.657A>C (p.Thr219=)
c.942A>C (p.Thr314=)
c.819A>C
c.333A>C (p.Thr111=)
c.870A>C (p.Thr290=)
c.*142A>C (n.*142A>C)
c.876A>C (p.Thr292=)
n.240A>C
n.3473A>C
c.380A>C
c.855A>C (p.Thr285=)
c.*544A>C (n.*544A>C)
c.1063A>C (n.1063A>C)
c.933A>C (p.Thr311=)
c.923-2603A>C (n.923-2603A>C)
c.939A>C (p.Thr313=)
c.981A>C (p.Thr327=)
c.522A>C (p.Thr174=)
5g.162149127A>GCA3544858GABRG2c.943A>G
c.1062A>G (p.Thr354=)
n.833A>G
c.1025A>G
n.196A>G
c.657A>G (p.Thr219=)
c.942A>G (p.Thr314=)
c.819A>G
c.333A>G (p.Thr111=)
c.870A>G (p.Thr290=)
c.*142A>G (n.*142A>G)
c.876A>G (p.Thr292=)
n.240A>G
n.3473A>G
c.380A>G
c.855A>G (p.Thr285=)
c.*544A>G (n.*544A>G)
c.1063A>G (n.1063A>G)
c.933A>G (p.Thr311=)
c.923-2603A>G (n.923-2603A>G)
c.939A>G (p.Thr313=)
c.981A>G (p.Thr327=)
c.522A>G (p.Thr174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149127A>TCA447610238GABRG2c.943A>T
c.1062A>T (p.Thr354=)
n.833A>T
c.1025A>T
n.196A>T
c.657A>T (p.Thr219=)
c.942A>T (p.Thr314=)
c.819A>T
c.333A>T (p.Thr111=)
c.870A>T (p.Thr290=)
c.*142A>T (n.*142A>T)
c.876A>T (p.Thr292=)
n.240A>T
n.3473A>T
c.380A>T
c.855A>T (p.Thr285=)
c.*544A>T (n.*544A>T)
c.1063A>T (n.1063A>T)
c.933A>T (p.Thr311=)
c.923-2603A>T (n.923-2603A>T)
c.939A>T (p.Thr313=)
c.981A>T (p.Thr327=)
c.522A>T (p.Thr174=)
5g.162149128A>CCA362182334GABRG2c.944A>C
c.1063A>C (p.Met355Leu)
n.834A>C
c.1026A>C
n.197A>C
c.658A>C (p.Met220Leu)
c.943A>C (p.Met315Leu)
c.820A>C
c.334A>C (p.Met112Leu)
c.871A>C (p.Met291Leu)
c.*143A>C (n.*143A>C)
c.877A>C (p.Met293Leu)
n.241A>C
n.3474A>C
c.381A>C
c.856A>C (p.Met286Leu)
c.*545A>C (n.*545A>C)
c.1064A>C (n.1064A>C)
c.934A>C (p.Met312Leu)
c.923-2602A>C (n.923-2602A>C)
c.940A>C (p.Met314Leu)
c.982A>C (p.Met328Leu)
c.523A>C (p.Met175Leu)
5g.162149128A>GCA362182335GABRG2c.944A>G
c.1063A>G (p.Met355Val)
n.834A>G
c.1026A>G
n.197A>G
c.658A>G (p.Met220Val)
c.943A>G (p.Met315Val)
c.820A>G
c.334A>G (p.Met112Val)
c.871A>G (p.Met291Val)
c.*143A>G (n.*143A>G)
c.877A>G (p.Met293Val)
n.241A>G
n.3474A>G
c.381A>G
c.856A>G (p.Met286Val)
c.*545A>G (n.*545A>G)
c.1064A>G (n.1064A>G)
c.934A>G (p.Met312Val)
c.923-2602A>G (n.923-2602A>G)
c.940A>G (p.Met314Val)
c.982A>G (p.Met328Val)
c.523A>G (p.Met175Val)
5g.162149128A>TCA362182336GABRG2c.944A>T
c.1063A>T (p.Met355Leu)
n.834A>T
c.1026A>T
n.197A>T
c.658A>T (p.Met220Leu)
c.943A>T (p.Met315Leu)
c.820A>T
c.334A>T (p.Met112Leu)
c.871A>T (p.Met291Leu)
c.*143A>T (n.*143A>T)
c.877A>T (p.Met293Leu)
n.241A>T
n.3474A>T
c.381A>T
c.856A>T (p.Met286Leu)
c.*545A>T (n.*545A>T)
c.1064A>T (n.1064A>T)
c.934A>T (p.Met312Leu)
c.923-2602A>T (n.923-2602A>T)
c.940A>T (p.Met314Leu)
c.982A>T (p.Met328Leu)
c.523A>T (p.Met175Leu)
5g.162149129T>ACA362182338GABRG2c.945T>A
c.1064T>A (p.Met355Lys)
n.835T>A
c.1027T>A
n.198T>A
c.659T>A (p.Met220Lys)
c.944T>A (p.Met315Lys)
c.821T>A
c.335T>A (p.Met112Lys)
c.872T>A (p.Met291Lys)
c.*144T>A (n.*144T>A)
c.878T>A (p.Met293Lys)
n.242T>A
n.3475T>A
c.382T>A
c.857T>A (p.Met286Lys)
c.*546T>A (n.*546T>A)
c.1065T>A (n.1065T>A)
c.935T>A (p.Met312Lys)
c.923-2601T>A (n.923-2601T>A)
c.941T>A (p.Met314Lys)
c.983T>A (p.Met328Lys)
c.524T>A (p.Met175Lys)
5g.162149129T>CCA362182339GABRG2c.945T>C
c.1064T>C (p.Met355Thr)
n.835T>C
c.1027T>C
n.198T>C
c.659T>C (p.Met220Thr)
c.944T>C (p.Met315Thr)
c.821T>C
c.335T>C (p.Met112Thr)
c.872T>C (p.Met291Thr)
c.*144T>C (n.*144T>C)
c.878T>C (p.Met293Thr)
n.242T>C
n.3475T>C
c.382T>C
c.857T>C (p.Met286Thr)
c.*546T>C (n.*546T>C)
c.1065T>C (n.1065T>C)
c.935T>C (p.Met312Thr)
c.923-2601T>C (n.923-2601T>C)
c.941T>C (p.Met314Thr)
c.983T>C (p.Met328Thr)
c.524T>C (p.Met175Thr)
 ClinVar dbSNP gnomAD v2
5g.162149129T>GCA362182337GABRG2c.945T>G
c.1064T>G (p.Met355Arg)
n.835T>G
c.1027T>G
n.198T>G
c.659T>G (p.Met220Arg)
c.944T>G (p.Met315Arg)
c.821T>G
c.335T>G (p.Met112Arg)
c.872T>G (p.Met291Arg)
c.*144T>G (n.*144T>G)
c.878T>G (p.Met293Arg)
n.242T>G
n.3475T>G
c.382T>G
c.857T>G (p.Met286Arg)
c.*546T>G (n.*546T>G)
c.1065T>G (n.1065T>G)
c.935T>G (p.Met312Arg)
c.923-2601T>G (n.923-2601T>G)
c.941T>G (p.Met314Arg)
c.983T>G (p.Met328Arg)
c.524T>G (p.Met175Arg)
5g.162149129T=CA1596380231GABRG2c.945T=
c.1064T= (p.Met355=)
n.835T=
c.1027T=
n.198T=
c.659T= (p.Met220=)
c.944T= (p.Met315=)
c.821T=
c.335T= (p.Met112=)
c.872T= (p.Met291=)
c.*144T= (n.*144T=)
c.878T= (p.Met293=)
n.242T=
n.3475T=
c.382T=
c.857T= (p.Met286=)
c.*546T= (n.*546T=)
c.1065T= (n.1065T=)
c.935T= (p.Met312=)
c.923-2601T= (n.923-2601T=)
c.941T= (p.Met314=)
c.983T= (p.Met328=)
c.524T= (p.Met175=)
5g.162149130G>ACA362182340GABRG2c.946G>A
c.1065G>A (p.Met355Ile)
n.836G>A
c.1028G>A
n.199G>A
c.660G>A (p.Met220Ile)
c.945G>A (p.Met315Ile)
c.822G>A
c.336G>A (p.Met112Ile)
c.873G>A (p.Met291Ile)
c.*145G>A (n.*145G>A)
c.879G>A (p.Met293Ile)
n.243G>A
n.3476G>A
c.383G>A
c.858G>A (p.Met286Ile)
c.*547G>A (n.*547G>A)
c.1066G>A (n.1066G>A)
c.936G>A (p.Met312Ile)
c.923-2600G>A (n.923-2600G>A)
c.942G>A (p.Met314Ile)
c.984G>A (p.Met328Ile)
c.525G>A (p.Met175Ile)
5g.162149130G>CCA362182341GABRG2c.946G>C
c.1065G>C (p.Met355Ile)
n.836G>C
c.1028G>C
n.199G>C
c.660G>C (p.Met220Ile)
c.945G>C (p.Met315Ile)
c.822G>C
c.336G>C (p.Met112Ile)
c.873G>C (p.Met291Ile)
c.*145G>C (n.*145G>C)
c.879G>C (p.Met293Ile)
n.243G>C
n.3476G>C
c.383G>C
c.858G>C (p.Met286Ile)
c.*547G>C (n.*547G>C)
c.1066G>C (n.1066G>C)
c.936G>C (p.Met312Ile)
c.923-2600G>C (n.923-2600G>C)
c.942G>C (p.Met314Ile)
c.984G>C (p.Met328Ile)
c.525G>C (p.Met175Ile)
5g.162149130G>TCA362182342GABRG2c.946G>T
c.1065G>T (p.Met355Ile)
n.836G>T
c.1028G>T
n.199G>T
c.660G>T (p.Met220Ile)
c.945G>T (p.Met315Ile)
c.822G>T
c.336G>T (p.Met112Ile)
c.873G>T (p.Met291Ile)
c.*145G>T (n.*145G>T)
c.879G>T (p.Met293Ile)
n.243G>T
n.3476G>T
c.383G>T
c.858G>T (p.Met286Ile)
c.*547G>T (n.*547G>T)
c.1066G>T (n.1066G>T)
c.936G>T (p.Met312Ile)
c.923-2600G>T (n.923-2600G>T)
c.942G>T (p.Met314Ile)
c.984G>T (p.Met328Ile)
c.525G>T (p.Met175Ile)
 gnomAD v4
5g.162149131A>CCA362182343GABRG2c.947A>C
c.1066A>C (p.Thr356Pro)
n.837A>C
c.1029A>C
n.200A>C
c.661A>C (p.Thr221Pro)
c.946A>C (p.Thr316Pro)
c.823A>C
c.337A>C (p.Thr113Pro)
c.874A>C (p.Thr292Pro)
c.*146A>C (n.*146A>C)
c.880A>C (p.Thr294Pro)
n.244A>C
n.3477A>C
c.384A>C
c.859A>C (p.Thr287Pro)
c.*548A>C (n.*548A>C)
c.1067A>C (n.1067A>C)
c.937A>C (p.Thr313Pro)
c.923-2599A>C (n.923-2599A>C)
c.943A>C (p.Thr315Pro)
c.985A>C (p.Thr329Pro)
c.526A>C (p.Thr176Pro)
5g.162149131A>GCA362182344GABRG2c.947A>G
c.1066A>G (p.Thr356Ala)
n.837A>G
c.1029A>G
n.200A>G
c.661A>G (p.Thr221Ala)
c.946A>G (p.Thr316Ala)
c.823A>G
c.337A>G (p.Thr113Ala)
c.874A>G (p.Thr292Ala)
c.*146A>G (n.*146A>G)
c.880A>G (p.Thr294Ala)
n.244A>G
n.3477A>G
c.384A>G
c.859A>G (p.Thr287Ala)
c.*548A>G (n.*548A>G)
c.1067A>G (n.1067A>G)
c.937A>G (p.Thr313Ala)
c.923-2599A>G (n.923-2599A>G)
c.943A>G (p.Thr315Ala)
c.985A>G (p.Thr329Ala)
c.526A>G (p.Thr176Ala)
5g.162149131A>TCA362182345GABRG2c.947A>T
c.1066A>T (p.Thr356Ser)
n.837A>T
c.1029A>T
n.200A>T
c.661A>T (p.Thr221Ser)
c.946A>T (p.Thr316Ser)
c.823A>T
c.337A>T (p.Thr113Ser)
c.874A>T (p.Thr292Ser)
c.*146A>T (n.*146A>T)
c.880A>T (p.Thr294Ser)
n.244A>T
n.3477A>T
c.384A>T
c.859A>T (p.Thr287Ser)
c.*548A>T (n.*548A>T)
c.1067A>T (n.1067A>T)
c.937A>T (p.Thr313Ser)
c.923-2599A>T (n.923-2599A>T)
c.943A>T (p.Thr315Ser)
c.985A>T (p.Thr329Ser)
c.526A>T (p.Thr176Ser)
5g.162149132C>ACA362182346GABRG2c.948C>A
c.1067C>A (p.Thr356Asn)
n.838C>A
c.1030C>A
n.201C>A
c.662C>A (p.Thr221Asn)
c.947C>A (p.Thr316Asn)
c.824C>A
c.338C>A (p.Thr113Asn)
c.875C>A (p.Thr292Asn)
c.*147C>A (n.*147C>A)
c.881C>A (p.Thr294Asn)
n.245C>A
n.3478C>A
c.385C>A
c.860C>A (p.Thr287Asn)
c.*549C>A (n.*549C>A)
c.1068C>A (n.1068C>A)
c.938C>A (p.Thr313Asn)
c.923-2598C>A (n.923-2598C>A)
c.944C>A (p.Thr315Asn)
c.986C>A (p.Thr329Asn)
c.527C>A (p.Thr176Asn)
 ClinVar
5g.162149132C>GCA362182347GABRG2c.948C>G
c.1067C>G (p.Thr356Ser)
n.838C>G
c.1030C>G
n.201C>G
c.662C>G (p.Thr221Ser)
c.947C>G (p.Thr316Ser)
c.824C>G
c.338C>G (p.Thr113Ser)
c.875C>G (p.Thr292Ser)
c.*147C>G (n.*147C>G)
c.881C>G (p.Thr294Ser)
n.245C>G
n.3478C>G
c.385C>G
c.860C>G (p.Thr287Ser)
c.*549C>G (n.*549C>G)
c.1068C>G (n.1068C>G)
c.938C>G (p.Thr313Ser)
c.923-2598C>G (n.923-2598C>G)
c.944C>G (p.Thr315Ser)
c.986C>G (p.Thr329Ser)
c.527C>G (p.Thr176Ser)
5g.162149132C>TCA362182348GABRG2c.948C>T
c.1067C>T (p.Thr356Ile)
n.838C>T
c.1030C>T
n.201C>T
c.662C>T (p.Thr221Ile)
c.947C>T (p.Thr316Ile)
c.824C>T
c.338C>T (p.Thr113Ile)
c.875C>T (p.Thr292Ile)
c.*147C>T (n.*147C>T)
c.881C>T (p.Thr294Ile)
n.245C>T
n.3478C>T
c.385C>T
c.860C>T (p.Thr287Ile)
c.*549C>T (n.*549C>T)
c.1068C>T (n.1068C>T)
c.938C>T (p.Thr313Ile)
c.923-2598C>T (n.923-2598C>T)
c.944C>T (p.Thr315Ile)
c.986C>T (p.Thr329Ile)
c.527C>T (p.Thr176Ile)
5g.162149133C>ACA447610239GABRG2c.949C>A
c.1068C>A (p.Thr356=)
n.839C>A
c.1031C>A
n.202C>A
c.663C>A (p.Thr221=)
c.948C>A (p.Thr316=)
c.825C>A
c.339C>A (p.Thr113=)
c.876C>A (p.Thr292=)
c.*148C>A (n.*148C>A)
c.882C>A (p.Thr294=)
n.246C>A
n.3479C>A
c.386C>A
c.861C>A (p.Thr287=)
c.*550C>A (n.*550C>A)
c.1069C>A (n.1069C>A)
c.939C>A (p.Thr313=)
c.923-2597C>A (n.923-2597C>A)
c.945C>A (p.Thr315=)
c.987C>A (p.Thr329=)
c.528C>A (p.Thr176=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162149133C=CA1596380232GABRG2c.949C=
c.1068C= (p.Thr356=)
n.839C=
c.1031C=
n.202C=
c.663C= (p.Thr221=)
c.948C= (p.Thr316=)
c.825C=
c.339C= (p.Thr113=)
c.876C= (p.Thr292=)
c.*148C= (n.*148C=)
c.882C= (p.Thr294=)
n.246C=
n.3479C=
c.386C=
c.861C= (p.Thr287=)
c.*550C= (n.*550C=)
c.1069C= (n.1069C=)
c.939C= (p.Thr313=)
c.923-2597C= (n.923-2597C=)
c.945C= (p.Thr315=)
c.987C= (p.Thr329=)
c.528C= (p.Thr176=)
5g.162149133C>GCA447610240GABRG2c.949C>G
c.1068C>G (p.Thr356=)
n.839C>G
c.1031C>G
n.202C>G
c.663C>G (p.Thr221=)
c.948C>G (p.Thr316=)
c.825C>G
c.339C>G (p.Thr113=)
c.876C>G (p.Thr292=)
c.*148C>G (n.*148C>G)
c.882C>G (p.Thr294=)
n.246C>G
n.3479C>G
c.386C>G
c.861C>G (p.Thr287=)
c.*550C>G (n.*550C>G)
c.1069C>G (n.1069C>G)
c.939C>G (p.Thr313=)
c.923-2597C>G (n.923-2597C>G)
c.945C>G (p.Thr315=)
c.987C>G (p.Thr329=)
c.528C>G (p.Thr176=)
5g.162149133C>TCA447610241GABRG2c.949C>T
c.1068C>T (p.Thr356=)
n.839C>T
c.1031C>T
n.202C>T
c.663C>T (p.Thr221=)
c.948C>T (p.Thr316=)
c.825C>T
c.339C>T (p.Thr113=)
c.876C>T (p.Thr292=)
c.*148C>T (n.*148C>T)
c.882C>T (p.Thr294=)
n.246C>T
n.3479C>T
c.386C>T
c.861C>T (p.Thr287=)
c.*550C>T (n.*550C>T)
c.1069C>T (n.1069C>T)
c.939C>T (p.Thr313=)
c.923-2597C>T (n.923-2597C>T)
c.945C>T (p.Thr315=)
c.987C>T (p.Thr329=)
c.528C>T (p.Thr176=)
 dbSNP
5g.162149134A>CCA362182349GABRG2c.950A>C
c.1069A>C (p.Thr357Pro)
n.840A>C
c.1032A>C
n.203A>C
c.664A>C (p.Thr222Pro)
c.949A>C (p.Thr317Pro)
c.826A>C
c.340A>C (p.Thr114Pro)
c.877A>C (p.Thr293Pro)
c.*149A>C (n.*149A>C)
c.883A>C (p.Thr295Pro)
n.247A>C
n.3480A>C
c.387A>C
c.862A>C (p.Thr288Pro)
c.*551A>C (n.*551A>C)
c.1070A>C (n.1070A>C)
c.940A>C (p.Thr314Pro)
c.923-2596A>C (n.923-2596A>C)
c.946A>C (p.Thr316Pro)
c.988A>C (p.Thr330Pro)
c.529A>C (p.Thr177Pro)
5g.162149134A>GCA362182350GABRG2c.950A>G
c.1069A>G (p.Thr357Ala)
n.840A>G
c.1032A>G
n.203A>G
c.664A>G (p.Thr222Ala)
c.949A>G (p.Thr317Ala)
c.826A>G
c.340A>G (p.Thr114Ala)
c.877A>G (p.Thr293Ala)
c.*149A>G (n.*149A>G)
c.883A>G (p.Thr295Ala)
n.247A>G
n.3480A>G
c.387A>G
c.862A>G (p.Thr288Ala)
c.*551A>G (n.*551A>G)
c.1070A>G (n.1070A>G)
c.940A>G (p.Thr314Ala)
c.923-2596A>G (n.923-2596A>G)
c.946A>G (p.Thr316Ala)
c.988A>G (p.Thr330Ala)
c.529A>G (p.Thr177Ala)
 COSMIC
5g.162149134A>TCA362182351GABRG2c.950A>T
c.1069A>T (p.Thr357Ser)
n.840A>T
c.1032A>T
n.203A>T
c.664A>T (p.Thr222Ser)
c.949A>T (p.Thr317Ser)
c.826A>T
c.340A>T (p.Thr114Ser)
c.877A>T (p.Thr293Ser)
c.*149A>T (n.*149A>T)
c.883A>T (p.Thr295Ser)
n.247A>T
n.3480A>T
c.387A>T
c.862A>T (p.Thr288Ser)
c.*551A>T (n.*551A>T)
c.1070A>T (n.1070A>T)
c.940A>T (p.Thr314Ser)
c.923-2596A>T (n.923-2596A>T)
c.946A>T (p.Thr316Ser)
c.988A>T (p.Thr330Ser)
c.529A>T (p.Thr177Ser)
5g.162149135C>ACA362182354GABRG2c.951C>A
c.1070C>A (p.Thr357Asn)
n.841C>A
c.1033C>A
n.204C>A
c.665C>A (p.Thr222Asn)
c.950C>A (p.Thr317Asn)
c.827C>A
c.341C>A (p.Thr114Asn)
c.878C>A (p.Thr293Asn)
c.*150C>A (n.*150C>A)
c.884C>A (p.Thr295Asn)
n.248C>A
n.3481C>A
c.388C>A
c.863C>A (p.Thr288Asn)
c.*552C>A (n.*552C>A)
c.1071C>A (n.1071C>A)
c.941C>A (p.Thr314Asn)
c.923-2595C>A (n.923-2595C>A)
c.947C>A (p.Thr316Asn)
c.989C>A (p.Thr330Asn)
c.530C>A (p.Thr177Asn)
 ClinVar dbSNP
5g.162149135C=CA1596380233GABRG2c.951C=
c.1070C= (p.Thr357=)
n.841C=
c.1033C=
n.204C=
c.665C= (p.Thr222=)
c.950C= (p.Thr317=)
c.827C=
c.341C= (p.Thr114=)
c.878C= (p.Thr293=)
c.*150C= (n.*150C=)
c.884C= (p.Thr295=)
n.248C=
n.3481C=
c.388C=
c.863C= (p.Thr288=)
c.*552C= (n.*552C=)
c.1071C= (n.1071C=)
c.941C= (p.Thr314=)
c.923-2595C= (n.923-2595C=)
c.947C= (p.Thr316=)
c.989C= (p.Thr330=)
c.530C= (p.Thr177=)
5g.162149135C>GCA362182352GABRG2c.951C>G
c.1070C>G (p.Thr357Ser)
n.841C>G
c.1033C>G
n.204C>G
c.665C>G (p.Thr222Ser)
c.950C>G (p.Thr317Ser)
c.827C>G
c.341C>G (p.Thr114Ser)
c.878C>G (p.Thr293Ser)
c.*150C>G (n.*150C>G)
c.884C>G (p.Thr295Ser)
n.248C>G
n.3481C>G
c.388C>G
c.863C>G (p.Thr288Ser)
c.*552C>G (n.*552C>G)
c.1071C>G (n.1071C>G)
c.941C>G (p.Thr314Ser)
c.923-2595C>G (n.923-2595C>G)
c.947C>G (p.Thr316Ser)
c.989C>G (p.Thr330Ser)
c.530C>G (p.Thr177Ser)
 ClinVar dbSNP
5g.162149135C>TCA362182353GABRG2c.951C>T
c.1070C>T (p.Thr357Ile)
n.841C>T
c.1033C>T
n.204C>T
c.665C>T (p.Thr222Ile)
c.950C>T (p.Thr317Ile)
c.827C>T
c.341C>T (p.Thr114Ile)
c.878C>T (p.Thr293Ile)
c.*150C>T (n.*150C>T)
c.884C>T (p.Thr295Ile)
n.248C>T
n.3481C>T
c.388C>T
c.863C>T (p.Thr288Ile)
c.*552C>T (n.*552C>T)
c.1071C>T (n.1071C>T)
c.941C>T (p.Thr314Ile)
c.923-2595C>T (n.923-2595C>T)
c.947C>T (p.Thr316Ile)
c.989C>T (p.Thr330Ile)
c.530C>T (p.Thr177Ile)
5g.162149136C>ACA447610242GABRG2c.952C>A
c.1071C>A (p.Thr357=)
n.842C>A
c.1034C>A
n.205C>A
c.666C>A (p.Thr222=)
c.951C>A (p.Thr317=)
c.828C>A
c.342C>A (p.Thr114=)
c.879C>A (p.Thr293=)
c.*151C>A (n.*151C>A)
c.885C>A (p.Thr295=)
n.249C>A
n.3482C>A
c.389C>A
c.864C>A (p.Thr288=)
c.*553C>A (n.*553C>A)
c.1072C>A (n.1072C>A)
c.942C>A (p.Thr314=)
c.923-2594C>A (n.923-2594C>A)
c.948C>A (p.Thr316=)
c.990C>A (p.Thr330=)
c.531C>A (p.Thr177=)
5g.162149136C>GCA447610243GABRG2c.952C>G
c.1071C>G (p.Thr357=)
n.842C>G
c.1034C>G
n.205C>G
c.666C>G (p.Thr222=)
c.951C>G (p.Thr317=)
c.828C>G
c.342C>G (p.Thr114=)
c.879C>G (p.Thr293=)
c.*151C>G (n.*151C>G)
c.885C>G (p.Thr295=)
n.249C>G
n.3482C>G
c.389C>G
c.864C>G (p.Thr288=)
c.*553C>G (n.*553C>G)
c.1072C>G (n.1072C>G)
c.942C>G (p.Thr314=)
c.923-2594C>G (n.923-2594C>G)
c.948C>G (p.Thr316=)
c.990C>G (p.Thr330=)
c.531C>G (p.Thr177=)
5g.162149136C>TCA447610244GABRG2c.952C>T
c.1071C>T (p.Thr357=)
n.842C>T
c.1034C>T
n.205C>T
c.666C>T (p.Thr222=)
c.951C>T (p.Thr317=)
c.828C>T
c.342C>T (p.Thr114=)
c.879C>T (p.Thr293=)
c.*151C>T (n.*151C>T)
c.885C>T (p.Thr295=)
n.249C>T
n.3482C>T
c.389C>T
c.864C>T (p.Thr288=)
c.*553C>T (n.*553C>T)
c.1072C>T (n.1072C>T)
c.942C>T (p.Thr314=)
c.923-2594C>T (n.923-2594C>T)
c.948C>T (p.Thr316=)
c.990C>T (p.Thr330=)
c.531C>T (p.Thr177=)
5g.162149137C>ACA362182355GABRG2c.953C>A
c.1072C>A (p.Leu358Ile)
n.843C>A
c.1035C>A
n.206C>A
c.667C>A (p.Leu223Ile)
c.952C>A (p.Leu318Ile)
c.829C>A
c.343C>A (p.Leu115Ile)
c.880C>A (p.Leu294Ile)
c.*152C>A (n.*152C>A)
c.886C>A (p.Leu296Ile)
n.250C>A
n.3483C>A
c.390C>A
c.865C>A (p.Leu289Ile)
c.667C>A
c.*554C>A (n.*554C>A)
c.1073C>A (n.1073C>A)
c.943C>A (p.Leu315Ile)
c.923-2593C>A (n.923-2593C>A)
c.949C>A (p.Leu317Ile)
c.991C>A (p.Leu331Ile)
c.532C>A (p.Leu178Ile)
 COSMIC
5g.162149137C=CA1596380234GABRG2c.953C=
c.1072C= (p.Leu358=)
n.843C=
c.1035C=
n.206C=
c.667C= (p.Leu223=)
c.952C= (p.Leu318=)
c.829C=
c.343C= (p.Leu115=)
c.880C= (p.Leu294=)
c.*152C= (n.*152C=)
c.886C= (p.Leu296=)
n.250C=
n.3483C=
c.390C=
c.865C= (p.Leu289=)
c.667C=
c.*554C= (n.*554C=)
c.1073C= (n.1073C=)
c.943C= (p.Leu315=)
c.923-2593C= (n.923-2593C=)
c.949C= (p.Leu317=)
c.991C= (p.Leu331=)
c.532C= (p.Leu178=)
5g.162149137C>GCA362182356GABRG2c.953C>G
c.1072C>G (p.Leu358Val)
n.843C>G
c.1035C>G
n.206C>G
c.667C>G (p.Leu223Val)
c.952C>G (p.Leu318Val)
c.829C>G
c.343C>G (p.Leu115Val)
c.880C>G (p.Leu294Val)
c.*152C>G (n.*152C>G)
c.886C>G (p.Leu296Val)
n.250C>G
n.3483C>G
c.390C>G
c.865C>G (p.Leu289Val)
c.667C>G
c.*554C>G (n.*554C>G)
c.1073C>G (n.1073C>G)
c.943C>G (p.Leu315Val)
c.923-2593C>G (n.923-2593C>G)
c.949C>G (p.Leu317Val)
c.991C>G (p.Leu331Val)
c.532C>G (p.Leu178Val)
 ClinVar dbSNP
5g.162149137C>TCA362182357GABRG2c.953C>T
c.1072C>T (p.Leu358Phe)
n.843C>T
c.1035C>T
n.206C>T
c.667C>T (p.Leu223Phe)
c.952C>T (p.Leu318Phe)
c.829C>T
c.343C>T (p.Leu115Phe)
c.880C>T (p.Leu294Phe)
c.*152C>T (n.*152C>T)
c.886C>T (p.Leu296Phe)
n.250C>T
n.3483C>T
c.390C>T
c.865C>T (p.Leu289Phe)
c.667C>T
c.*554C>T (n.*554C>T)
c.1073C>T (n.1073C>T)
c.943C>T (p.Leu315Phe)
c.923-2593C>T (n.923-2593C>T)
c.949C>T (p.Leu317Phe)
c.991C>T (p.Leu331Phe)
c.532C>T (p.Leu178Phe)
5g.162149138T>ACA362182358GABRG2c.954T>A
c.1073T>A (p.Leu358His)
n.844T>A
c.1036T>A
n.207T>A
c.668T>A (p.Leu223His)
c.953T>A (p.Leu318His)
c.830T>A
c.344T>A (p.Leu115His)
c.881T>A (p.Leu294His)
c.*153T>A (n.*153T>A)
c.887T>A (p.Leu296His)
n.251T>A
n.3484T>A
c.391T>A
c.866T>A (p.Leu289His)
c.*555T>A (n.*555T>A)
c.1074T>A (n.1074T>A)
c.944T>A (p.Leu315His)
c.923-2592T>A (n.923-2592T>A)
c.950T>A (p.Leu317His)
c.992T>A (p.Leu331His)
c.533T>A (p.Leu178His)
5g.162149138T>CCA362182359GABRG2c.954T>C
c.1073T>C (p.Leu358Pro)
n.844T>C
c.1036T>C
n.207T>C
c.668T>C (p.Leu223Pro)
c.953T>C (p.Leu318Pro)
c.830T>C
c.344T>C (p.Leu115Pro)
c.881T>C (p.Leu294Pro)
c.*153T>C (n.*153T>C)
c.887T>C (p.Leu296Pro)
n.251T>C
n.3484T>C
c.391T>C
c.866T>C (p.Leu289Pro)
c.*555T>C (n.*555T>C)
c.1074T>C (n.1074T>C)
c.944T>C (p.Leu315Pro)
c.923-2592T>C (n.923-2592T>C)
c.950T>C (p.Leu317Pro)
c.992T>C (p.Leu331Pro)
c.533T>C (p.Leu178Pro)
5g.162149138T>GCA362182360GABRG2c.954T>G
c.1073T>G (p.Leu358Arg)
n.844T>G
c.1036T>G
n.207T>G
c.668T>G (p.Leu223Arg)
c.953T>G (p.Leu318Arg)
c.830T>G
c.344T>G (p.Leu115Arg)
c.881T>G (p.Leu294Arg)
c.*153T>G (n.*153T>G)
c.887T>G (p.Leu296Arg)
n.251T>G
n.3484T>G
c.391T>G
c.866T>G (p.Leu289Arg)
c.*555T>G (n.*555T>G)
c.1074T>G (n.1074T>G)
c.944T>G (p.Leu315Arg)
c.923-2592T>G (n.923-2592T>G)
c.950T>G (p.Leu317Arg)
c.992T>G (p.Leu331Arg)
c.533T>G (p.Leu178Arg)
5g.162149139C>ACA447610246GABRG2c.955C>A
c.1074C>A (p.Leu358=)
n.845C>A
c.1037C>A
n.208C>A
c.669C>A (p.Leu223=)
c.954C>A (p.Leu318=)
c.831C>A
c.345C>A (p.Leu115=)
c.882C>A (p.Leu294=)
c.*154C>A (n.*154C>A)
c.888C>A (p.Leu296=)
n.252C>A
n.3485C>A
c.392C>A
c.867C>A (p.Leu289=)
c.*556C>A (n.*556C>A)
c.1075C>A (n.1075C>A)
c.945C>A (p.Leu315=)
c.923-2591C>A (n.923-2591C>A)
c.951C>A (p.Leu317=)
c.993C>A (p.Leu331=)
c.534C>A (p.Leu178=)
5g.162149139C=CA1596380235GABRG2c.955C=
c.1074C= (p.Leu358=)
n.845C=
c.1037C=
n.208C=
c.669C= (p.Leu223=)
c.954C= (p.Leu318=)
c.831C=
c.345C= (p.Leu115=)
c.882C= (p.Leu294=)
c.*154C= (n.*154C=)
c.888C= (p.Leu296=)
n.252C=
n.3485C=
c.392C=
c.867C= (p.Leu289=)
c.*556C= (n.*556C=)
c.1075C= (n.1075C=)
c.945C= (p.Leu315=)
c.923-2591C= (n.923-2591C=)
c.951C= (p.Leu317=)
c.993C= (p.Leu331=)
c.534C= (p.Leu178=)
5g.162149139C>GCA447610245GABRG2c.955C>G
c.1074C>G (p.Leu358=)
n.845C>G
c.1037C>G
n.208C>G
c.669C>G (p.Leu223=)
c.954C>G (p.Leu318=)
c.831C>G
c.345C>G (p.Leu115=)
c.882C>G (p.Leu294=)
c.*154C>G (n.*154C>G)
c.888C>G (p.Leu296=)
n.252C>G
n.3485C>G
c.392C>G
c.867C>G (p.Leu289=)
c.*556C>G (n.*556C>G)
c.1075C>G (n.1075C>G)
c.945C>G (p.Leu315=)
c.923-2591C>G (n.923-2591C>G)
c.951C>G (p.Leu317=)
c.993C>G (p.Leu331=)
c.534C>G (p.Leu178=)
5g.162149139C>TCA3544859GABRG2c.955C>T
c.1074C>T (p.Leu358=)
n.845C>T
c.1037C>T
n.208C>T
c.669C>T (p.Leu223=)
c.954C>T (p.Leu318=)
c.831C>T
c.345C>T (p.Leu115=)
c.882C>T (p.Leu294=)
c.*154C>T (n.*154C>T)
c.888C>T (p.Leu296=)
n.252C>T
n.3485C>T
c.392C>T
c.867C>T (p.Leu289=)
c.*556C>T (n.*556C>T)
c.1075C>T (n.1075C>T)
c.945C>T (p.Leu315=)
c.923-2591C>T (n.923-2591C>T)
c.951C>T (p.Leu317=)
c.993C>T (p.Leu331=)
c.534C>T (p.Leu178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149140A>CCA362182361GABRG2c.956A>C
c.1075A>C (p.Ser359Arg)
n.846A>C
c.1038A>C
n.209A>C
c.670A>C (p.Ser224Arg)
c.955A>C (p.Ser319Arg)
c.832A>C
c.346A>C (p.Ser116Arg)
c.883A>C (p.Ser295Arg)
c.*155A>C (n.*155A>C)
c.889A>C (p.Ser297Arg)
n.253A>C
n.3486A>C
c.393A>C
c.868A>C (p.Ser290Arg)
c.*557A>C (n.*557A>C)
c.1076A>C (n.1076A>C)
c.946A>C (p.Ser316Arg)
c.923-2590A>C (n.923-2590A>C)
c.952A>C (p.Ser318Arg)
c.994A>C (p.Ser332Arg)
c.535A>C (p.Ser179Arg)
5g.162149140A>GCA362182362GABRG2c.956A>G
c.1075A>G (p.Ser359Gly)
n.846A>G
c.1038A>G
n.209A>G
c.670A>G (p.Ser224Gly)
c.955A>G (p.Ser319Gly)
c.832A>G
c.346A>G (p.Ser116Gly)
c.883A>G (p.Ser295Gly)
c.*155A>G (n.*155A>G)
c.889A>G (p.Ser297Gly)
n.253A>G
n.3486A>G
c.393A>G
c.868A>G (p.Ser290Gly)
c.*557A>G (n.*557A>G)
c.1076A>G (n.1076A>G)
c.946A>G (p.Ser316Gly)
c.923-2590A>G (n.923-2590A>G)
c.952A>G (p.Ser318Gly)
c.994A>G (p.Ser332Gly)
c.535A>G (p.Ser179Gly)
5g.162149140A>TCA362182363GABRG2c.956A>T
c.1075A>T (p.Ser359Cys)
n.846A>T
c.1038A>T
n.209A>T
c.670A>T (p.Ser224Cys)
c.955A>T (p.Ser319Cys)
c.832A>T
c.346A>T (p.Ser116Cys)
c.883A>T (p.Ser295Cys)
c.*155A>T (n.*155A>T)
c.889A>T (p.Ser297Cys)
n.253A>T
n.3486A>T
c.393A>T
c.868A>T (p.Ser290Cys)
c.*557A>T (n.*557A>T)
c.1076A>T (n.1076A>T)
c.946A>T (p.Ser316Cys)
c.923-2590A>T (n.923-2590A>T)
c.952A>T (p.Ser318Cys)
c.994A>T (p.Ser332Cys)
c.535A>T (p.Ser179Cys)
5g.162149141G>ACA362182364GABRG2c.957G>A
c.1076G>A (p.Ser359Asn)
n.847G>A
c.1039G>A
n.210G>A
c.671G>A (p.Ser224Asn)
c.956G>A (p.Ser319Asn)
c.833G>A
c.347G>A (p.Ser116Asn)
c.884G>A (p.Ser295Asn)
c.*156G>A (n.*156G>A)
c.890G>A (p.Ser297Asn)
n.254G>A
n.3487G>A
c.394G>A
c.869G>A (p.Ser290Asn)
c.*558G>A (n.*558G>A)
c.1077G>A (n.1077G>A)
c.947G>A (p.Ser316Asn)
c.923-2589G>A (n.923-2589G>A)
c.953G>A (p.Ser318Asn)
c.995G>A (p.Ser332Asn)
c.536G>A (p.Ser179Asn)
5g.162149141G>CCA362182365GABRG2c.957G>C
c.1076G>C (p.Ser359Thr)
n.847G>C
c.1039G>C
n.210G>C
c.671G>C (p.Ser224Thr)
c.956G>C (p.Ser319Thr)
c.833G>C
c.347G>C (p.Ser116Thr)
c.884G>C (p.Ser295Thr)
c.*156G>C (n.*156G>C)
c.890G>C (p.Ser297Thr)
n.254G>C
n.3487G>C
c.394G>C
c.869G>C (p.Ser290Thr)
c.*558G>C (n.*558G>C)
c.1077G>C (n.1077G>C)
c.947G>C (p.Ser316Thr)
c.923-2589G>C (n.923-2589G>C)
c.953G>C (p.Ser318Thr)
c.995G>C (p.Ser332Thr)
c.536G>C (p.Ser179Thr)
5g.162149141G>TCA362182366GABRG2c.957G>T
c.1076G>T (p.Ser359Ile)
n.847G>T
c.1039G>T
n.210G>T
c.671G>T (p.Ser224Ile)
c.956G>T (p.Ser319Ile)
c.833G>T
c.347G>T (p.Ser116Ile)
c.884G>T (p.Ser295Ile)
c.*156G>T (n.*156G>T)
c.890G>T (p.Ser297Ile)
n.254G>T
n.3487G>T
c.394G>T
c.869G>T (p.Ser290Ile)
c.*558G>T (n.*558G>T)
c.1077G>T (n.1077G>T)
c.947G>T (p.Ser316Ile)
c.923-2589G>T (n.923-2589G>T)
c.953G>T (p.Ser318Ile)
c.995G>T (p.Ser332Ile)
c.536G>T (p.Ser179Ile)
5g.162149142C>ACA362182368GABRG2c.958C>A
c.1077C>A (p.Ser359Arg)
n.848C>A
c.1040C>A
n.211C>A
c.672C>A (p.Ser224Arg)
c.957C>A (p.Ser319Arg)
c.834C>A
c.348C>A (p.Ser116Arg)
c.885C>A (p.Ser295Arg)
c.*157C>A (n.*157C>A)
c.891C>A (p.Ser297Arg)
n.255C>A
n.3488C>A
c.395C>A
c.870C>A (p.Ser290Arg)
c.*559C>A (n.*559C>A)
c.1078C>A (n.1078C>A)
c.948C>A (p.Ser316Arg)
c.923-2588C>A (n.923-2588C>A)
c.954C>A (p.Ser318Arg)
c.996C>A (p.Ser332Arg)
c.537C>A (p.Ser179Arg)
5g.162149142C=CA1596380236GABRG2c.958C=
c.1077C= (p.Ser359=)
n.848C=
c.1040C=
n.211C=
c.672C= (p.Ser224=)
c.957C= (p.Ser319=)
c.834C=
c.348C= (p.Ser116=)
c.885C= (p.Ser295=)
c.*157C= (n.*157C=)
c.891C= (p.Ser297=)
n.255C=
n.3488C=
c.395C=
c.870C= (p.Ser290=)
c.*559C= (n.*559C=)
c.1078C= (n.1078C=)
c.948C= (p.Ser316=)
c.923-2588C= (n.923-2588C=)
c.954C= (p.Ser318=)
c.996C= (p.Ser332=)
c.537C= (p.Ser179=)
5g.162149142C>GCA362182367GABRG2c.958C>G
c.1077C>G (p.Ser359Arg)
n.848C>G
c.1040C>G
n.211C>G
c.672C>G (p.Ser224Arg)
c.957C>G (p.Ser319Arg)
c.834C>G
c.348C>G (p.Ser116Arg)
c.885C>G (p.Ser295Arg)
c.*157C>G (n.*157C>G)
c.891C>G (p.Ser297Arg)
n.255C>G
n.3488C>G
c.395C>G
c.870C>G (p.Ser290Arg)
c.*559C>G (n.*559C>G)
c.1078C>G (n.1078C>G)
c.948C>G (p.Ser316Arg)
c.923-2588C>G (n.923-2588C>G)
c.954C>G (p.Ser318Arg)
c.996C>G (p.Ser332Arg)
c.537C>G (p.Ser179Arg)
5g.162149142C>TCA447610247GABRG2c.958C>T
c.1077C>T (p.Ser359=)
n.848C>T
c.1040C>T
n.211C>T
c.672C>T (p.Ser224=)
c.957C>T (p.Ser319=)
c.834C>T
c.348C>T (p.Ser116=)
c.885C>T (p.Ser295=)
c.*157C>T (n.*157C>T)
c.891C>T (p.Ser297=)
n.255C>T
n.3488C>T
c.395C>T
c.870C>T (p.Ser290=)
c.*559C>T (n.*559C>T)
c.1078C>T (n.1078C>T)
c.948C>T (p.Ser316=)
c.923-2588C>T (n.923-2588C>T)
c.954C>T (p.Ser318=)
c.996C>T (p.Ser332=)
c.537C>T (p.Ser179=)
 dbSNP gnomAD v2 gnomAD v4
5g.162149143A=CA1596380237GABRG2c.959A=
c.1078A= (p.Thr360=)
n.849A=
c.1041A=
n.212A=
c.673A= (p.Thr225=)
c.958A= (p.Thr320=)
c.835A=
c.349A= (p.Thr117=)
c.886A= (p.Thr296=)
c.*158A= (n.*158A=)
c.892A= (p.Thr298=)
n.256A=
n.3489A=
c.396A=
c.871A= (p.Thr291=)
c.*560A= (n.*560A=)
c.1079A= (n.1079A=)
c.949A= (p.Thr317=)
c.923-2587A= (n.923-2587A=)
c.955A= (p.Thr319=)
c.997A= (p.Thr333=)
c.538A= (p.Thr180=)
5g.162149143A>CCA362182369GABRG2c.959A>C
c.1078A>C (p.Thr360Pro)
n.849A>C
c.1041A>C
n.212A>C
c.673A>C (p.Thr225Pro)
c.958A>C (p.Thr320Pro)
c.835A>C
c.349A>C (p.Thr117Pro)
c.886A>C (p.Thr296Pro)
c.*158A>C (n.*158A>C)
c.892A>C (p.Thr298Pro)
n.256A>C
n.3489A>C
c.396A>C
c.871A>C (p.Thr291Pro)
c.*560A>C (n.*560A>C)
c.1079A>C (n.1079A>C)
c.949A>C (p.Thr317Pro)
c.923-2587A>C (n.923-2587A>C)
c.955A>C (p.Thr319Pro)
c.997A>C (p.Thr333Pro)
c.538A>C (p.Thr180Pro)
5g.162149143A>GCA362182371GABRG2c.959A>G
c.1078A>G (p.Thr360Ala)
n.849A>G
c.1041A>G
n.212A>G
c.673A>G (p.Thr225Ala)
c.958A>G (p.Thr320Ala)
c.835A>G
c.349A>G (p.Thr117Ala)
c.886A>G (p.Thr296Ala)
c.*158A>G (n.*158A>G)
c.892A>G (p.Thr298Ala)
n.256A>G
n.3489A>G
c.396A>G
c.871A>G (p.Thr291Ala)
c.*560A>G (n.*560A>G)
c.1079A>G (n.1079A>G)
c.949A>G (p.Thr317Ala)
c.923-2587A>G (n.923-2587A>G)
c.955A>G (p.Thr319Ala)
c.997A>G (p.Thr333Ala)
c.538A>G (p.Thr180Ala)
 dbSNP
5g.162149143A>TCA362182370GABRG2c.959A>T
c.1078A>T (p.Thr360Ser)
n.849A>T
c.1041A>T
n.212A>T
c.673A>T (p.Thr225Ser)
c.958A>T (p.Thr320Ser)
c.835A>T
c.349A>T (p.Thr117Ser)
c.886A>T (p.Thr296Ser)
c.*158A>T (n.*158A>T)
c.892A>T (p.Thr298Ser)
n.256A>T
n.3489A>T
c.396A>T
c.871A>T (p.Thr291Ser)
c.*560A>T (n.*560A>T)
c.1079A>T (n.1079A>T)
c.949A>T (p.Thr317Ser)
c.923-2587A>T (n.923-2587A>T)
c.955A>T (p.Thr319Ser)
c.997A>T (p.Thr333Ser)
c.538A>T (p.Thr180Ser)
5g.162149144C>ACA362182372GABRG2c.960C>A
c.1079C>A (p.Thr360Asn)
n.850C>A
c.1042C>A
n.213C>A
c.674C>A (p.Thr225Asn)
c.959C>A (p.Thr320Asn)
c.836C>A
c.350C>A (p.Thr117Asn)
c.887C>A (p.Thr296Asn)
c.*159C>A (n.*159C>A)
c.893C>A (p.Thr298Asn)
n.257C>A
n.3490C>A
c.397C>A
c.872C>A (p.Thr291Asn)
c.*561C>A (n.*561C>A)
c.1080C>A (n.1080C>A)
c.950C>A (p.Thr317Asn)
c.923-2586C>A (n.923-2586C>A)
c.956C>A (p.Thr319Asn)
c.998C>A (p.Thr333Asn)
c.539C>A (p.Thr180Asn)
 COSMIC
5g.162149144C=CA1596380238GABRG2c.960C=
c.1079C= (p.Thr360=)
n.850C=
c.1042C=
n.213C=
c.674C= (p.Thr225=)
c.959C= (p.Thr320=)
c.836C=
c.350C= (p.Thr117=)
c.887C= (p.Thr296=)
c.*159C= (n.*159C=)
c.893C= (p.Thr298=)
n.257C=
n.3490C=
c.397C=
c.872C= (p.Thr291=)
c.*561C= (n.*561C=)
c.1080C= (n.1080C=)
c.950C= (p.Thr317=)
c.923-2586C= (n.923-2586C=)
c.956C= (p.Thr319=)
c.998C= (p.Thr333=)
c.539C= (p.Thr180=)
5g.162149144C>GCA362182373GABRG2c.960C>G
c.1079C>G (p.Thr360Ser)
n.850C>G
c.1042C>G
n.213C>G
c.674C>G (p.Thr225Ser)
c.959C>G (p.Thr320Ser)
c.836C>G
c.350C>G (p.Thr117Ser)
c.887C>G (p.Thr296Ser)
c.*159C>G (n.*159C>G)
c.893C>G (p.Thr298Ser)
n.257C>G
n.3490C>G
c.397C>G
c.872C>G (p.Thr291Ser)
c.*561C>G (n.*561C>G)
c.1080C>G (n.1080C>G)
c.950C>G (p.Thr317Ser)
c.923-2586C>G (n.923-2586C>G)
c.956C>G (p.Thr319Ser)
c.998C>G (p.Thr333Ser)
c.539C>G (p.Thr180Ser)
5g.162149144C>TCA362182374GABRG2c.960C>T
c.1079C>T (p.Thr360Ile)
n.850C>T
c.1042C>T
n.213C>T
c.674C>T (p.Thr225Ile)
c.959C>T (p.Thr320Ile)
c.836C>T
c.350C>T (p.Thr117Ile)
c.887C>T (p.Thr296Ile)
c.*159C>T (n.*159C>T)
c.893C>T (p.Thr298Ile)
n.257C>T
n.3490C>T
c.397C>T
c.872C>T (p.Thr291Ile)
c.*561C>T (n.*561C>T)
c.1080C>T (n.1080C>T)
c.950C>T (p.Thr317Ile)
c.923-2586C>T (n.923-2586C>T)
c.956C>T (p.Thr319Ile)
c.998C>T (p.Thr333Ile)
c.539C>T (p.Thr180Ile)
 dbSNP gnomAD v4
5g.162149145C>ACA447610248GABRG2c.961C>A
c.1080C>A (p.Thr360=)
n.851C>A
c.1043C>A
n.214C>A
c.675C>A (p.Thr225=)
c.960C>A (p.Thr320=)
c.837C>A
c.351C>A (p.Thr117=)
c.888C>A (p.Thr296=)
c.*160C>A (n.*160C>A)
c.894C>A (p.Thr298=)
n.258C>A
n.3491C>A
c.398C>A
c.873C>A (p.Thr291=)
c.*562C>A (n.*562C>A)
c.1081C>A (n.1081C>A)
c.951C>A (p.Thr317=)
c.923-2585C>A (n.923-2585C>A)
c.957C>A (p.Thr319=)
c.999C>A (p.Thr333=)
c.540C>A (p.Thr180=)
 gnomAD v4
5g.162149145C=CA1596380239GABRG2c.961C=
c.1080C= (p.Thr360=)
n.851C=
c.1043C=
n.214C=
c.675C= (p.Thr225=)
c.960C= (p.Thr320=)
c.837C=
c.351C= (p.Thr117=)
c.888C= (p.Thr296=)
c.*160C= (n.*160C=)
c.894C= (p.Thr298=)
n.258C=
n.3491C=
c.398C=
c.873C= (p.Thr291=)
c.*562C= (n.*562C=)
c.1081C= (n.1081C=)
c.951C= (p.Thr317=)
c.923-2585C= (n.923-2585C=)
c.957C= (p.Thr319=)
c.999C= (p.Thr333=)
c.540C= (p.Thr180=)
5g.162149145C>GCA447610249GABRG2c.961C>G
c.1080C>G (p.Thr360=)
n.851C>G
c.1043C>G
n.214C>G
c.675C>G (p.Thr225=)
c.960C>G (p.Thr320=)
c.837C>G
c.351C>G (p.Thr117=)
c.888C>G (p.Thr296=)
c.*160C>G (n.*160C>G)
c.894C>G (p.Thr298=)
n.258C>G
n.3491C>G
c.398C>G
c.873C>G (p.Thr291=)
c.*562C>G (n.*562C>G)
c.1081C>G (n.1081C>G)
c.951C>G (p.Thr317=)
c.923-2585C>G (n.923-2585C>G)
c.957C>G (p.Thr319=)
c.999C>G (p.Thr333=)
c.540C>G (p.Thr180=)
5g.162149145C>TCA447610250GABRG2c.961C>T
c.1080C>T (p.Thr360=)
n.851C>T
c.1043C>T
n.214C>T
c.675C>T (p.Thr225=)
c.960C>T (p.Thr320=)
c.837C>T
c.351C>T (p.Thr117=)
c.888C>T (p.Thr296=)
c.*160C>T (n.*160C>T)
c.894C>T (p.Thr298=)
n.258C>T
n.3491C>T
c.398C>T
c.873C>T (p.Thr291=)
c.*562C>T (n.*562C>T)
c.1081C>T (n.1081C>T)
c.951C>T (p.Thr317=)
c.923-2585C>T (n.923-2585C>T)
c.957C>T (p.Thr319=)
c.999C>T (p.Thr333=)
c.540C>T (p.Thr180=)
 dbSNP gnomAD v4
5g.162149146A=CA1596380240GABRG2c.962A=
c.1081A= (p.Ile361=)
n.852A=
c.1044A=
n.215A=
c.676A= (p.Ile226=)
c.961A= (p.Ile321=)
c.838A=
c.352A= (p.Ile118=)
c.889A= (p.Ile297=)
c.*161A= (n.*161A=)
c.895A= (p.Ile299=)
n.259A=
n.3492A=
c.399A=
c.874A= (p.Ile292=)
c.*563A= (n.*563A=)
c.1082A= (n.1082A=)
c.952A= (p.Ile318=)
c.923-2584A= (n.923-2584A=)
c.958A= (p.Ile320=)
c.1000A= (p.Ile334=)
c.541A= (p.Ile181=)
5g.162149146A>CCA362182375GABRG2c.962A>C
c.1081A>C (p.Ile361Leu)
n.852A>C
c.1044A>C
n.215A>C
c.676A>C (p.Ile226Leu)
c.961A>C (p.Ile321Leu)
c.838A>C
c.352A>C (p.Ile118Leu)
c.889A>C (p.Ile297Leu)
c.*161A>C (n.*161A>C)
c.895A>C (p.Ile299Leu)
n.259A>C
n.3492A>C
c.399A>C
c.874A>C (p.Ile292Leu)
c.*563A>C (n.*563A>C)
c.1082A>C (n.1082A>C)
c.952A>C (p.Ile318Leu)
c.923-2584A>C (n.923-2584A>C)
c.958A>C (p.Ile320Leu)
c.1000A>C (p.Ile334Leu)
c.541A>C (p.Ile181Leu)
5g.162149146A>GCA131117317GABRG2c.962A>G
c.1081A>G (p.Ile361Val)
n.852A>G
c.1044A>G
n.215A>G
c.676A>G (p.Ile226Val)
c.961A>G (p.Ile321Val)
c.838A>G
c.352A>G (p.Ile118Val)
c.889A>G (p.Ile297Val)
c.*161A>G (n.*161A>G)
c.895A>G (p.Ile299Val)
n.259A>G
n.3492A>G
c.399A>G
c.874A>G (p.Ile292Val)
c.*563A>G (n.*563A>G)
c.1082A>G (n.1082A>G)
c.952A>G (p.Ile318Val)
c.923-2584A>G (n.923-2584A>G)
c.958A>G (p.Ile320Val)
c.1000A>G (p.Ile334Val)
c.541A>G (p.Ile181Val)
 dbSNP
5g.162149146A>TCA362182376GABRG2c.962A>T
c.1081A>T (p.Ile361Phe)
n.852A>T
c.1044A>T
n.215A>T
c.676A>T (p.Ile226Phe)
c.961A>T (p.Ile321Phe)
c.838A>T
c.352A>T (p.Ile118Phe)
c.889A>T (p.Ile297Phe)
c.*161A>T (n.*161A>T)
c.895A>T (p.Ile299Phe)
n.259A>T
n.3492A>T
c.399A>T
c.874A>T (p.Ile292Phe)
c.*563A>T (n.*563A>T)
c.1082A>T (n.1082A>T)
c.952A>T (p.Ile318Phe)
c.923-2584A>T (n.923-2584A>T)
c.958A>T (p.Ile320Phe)
c.1000A>T (p.Ile334Phe)
c.541A>T (p.Ile181Phe)
5g.162149147T>ACA362182377GABRG2c.963T>A
c.1082T>A (p.Ile361Asn)
n.853T>A
c.1045T>A
n.216T>A
c.677T>A (p.Ile226Asn)
c.962T>A (p.Ile321Asn)
c.839T>A
c.353T>A (p.Ile118Asn)
c.890T>A (p.Ile297Asn)
c.*162T>A (n.*162T>A)
c.896T>A (p.Ile299Asn)
n.260T>A
n.3493T>A
c.400T>A
c.875T>A (p.Ile292Asn)
c.*564T>A (n.*564T>A)
c.1083T>A (n.1083T>A)
c.953T>A (p.Ile318Asn)
c.923-2583T>A (n.923-2583T>A)
c.959T>A (p.Ile320Asn)
c.1001T>A (p.Ile334Asn)
c.542T>A (p.Ile181Asn)
5g.162149147T>CCA362182378GABRG2c.963T>C
c.1082T>C (p.Ile361Thr)
n.853T>C
c.1045T>C
n.216T>C
c.677T>C (p.Ile226Thr)
c.962T>C (p.Ile321Thr)
c.839T>C
c.353T>C (p.Ile118Thr)
c.890T>C (p.Ile297Thr)
c.*162T>C (n.*162T>C)
c.896T>C (p.Ile299Thr)
n.260T>C
n.3493T>C
c.400T>C
c.875T>C (p.Ile292Thr)
c.*564T>C (n.*564T>C)
c.1083T>C (n.1083T>C)
c.953T>C (p.Ile318Thr)
c.923-2583T>C (n.923-2583T>C)
c.959T>C (p.Ile320Thr)
c.1001T>C (p.Ile334Thr)
c.542T>C (p.Ile181Thr)
 ClinVar dbSNP
5g.162149147T>GCA362182379GABRG2c.963T>G
c.1082T>G (p.Ile361Ser)
n.853T>G
c.1045T>G
n.216T>G
c.677T>G (p.Ile226Ser)
c.962T>G (p.Ile321Ser)
c.839T>G
c.353T>G (p.Ile118Ser)
c.890T>G (p.Ile297Ser)
c.*162T>G (n.*162T>G)
c.896T>G (p.Ile299Ser)
n.260T>G
n.3493T>G
c.400T>G
c.875T>G (p.Ile292Ser)
c.*564T>G (n.*564T>G)
c.1083T>G (n.1083T>G)
c.953T>G (p.Ile318Ser)
c.923-2583T>G (n.923-2583T>G)
c.959T>G (p.Ile320Ser)
c.1001T>G (p.Ile334Ser)
c.542T>G (p.Ile181Ser)
5g.162149147T=CA1596380241GABRG2c.963T=
c.1082T= (p.Ile361=)
n.853T=
c.1045T=
n.216T=
c.677T= (p.Ile226=)
c.962T= (p.Ile321=)
c.839T=
c.353T= (p.Ile118=)
c.890T= (p.Ile297=)
c.*162T= (n.*162T=)
c.896T= (p.Ile299=)
n.260T=
n.3493T=
c.400T=
c.875T= (p.Ile292=)
c.*564T= (n.*564T=)
c.1083T= (n.1083T=)
c.953T= (p.Ile318=)
c.923-2583T= (n.923-2583T=)
c.959T= (p.Ile320=)
c.1001T= (p.Ile334=)
c.542T= (p.Ile181=)
5g.162149148T>ACA447610252GABRG2c.964T>A
c.1083T>A (p.Ile361=)
n.854T>A
c.1046T>A
n.217T>A
c.678T>A (p.Ile226=)
c.963T>A (p.Ile321=)
c.840T>A
c.354T>A (p.Ile118=)
c.891T>A (p.Ile297=)
c.*163T>A (n.*163T>A)
c.897T>A (p.Ile299=)
n.261T>A
n.3494T>A
c.401T>A
c.876T>A (p.Ile292=)
c.*565T>A (n.*565T>A)
c.1084T>A (n.1084T>A)
c.954T>A (p.Ile318=)
c.923-2582T>A (n.923-2582T>A)
c.960T>A (p.Ile320=)
c.1002T>A (p.Ile334=)
c.543T>A (p.Ile181=)
5g.162149148T>CCA447610251GABRG2c.964T>C
c.1083T>C (p.Ile361=)
n.854T>C
c.1046T>C
n.217T>C
c.678T>C (p.Ile226=)
c.963T>C (p.Ile321=)
c.840T>C
c.354T>C (p.Ile118=)
c.891T>C (p.Ile297=)
c.*163T>C (n.*163T>C)
c.897T>C (p.Ile299=)
n.261T>C
n.3494T>C
c.401T>C
c.876T>C (p.Ile292=)
c.*565T>C (n.*565T>C)
c.1084T>C (n.1084T>C)
c.954T>C (p.Ile318=)
c.923-2582T>C (n.923-2582T>C)
c.960T>C (p.Ile320=)
c.1002T>C (p.Ile334=)
c.543T>C (p.Ile181=)
5g.162149148T>GCA362182380GABRG2c.964T>G
c.1083T>G (p.Ile361Met)
n.854T>G
c.1046T>G
n.217T>G
c.678T>G (p.Ile226Met)
c.963T>G (p.Ile321Met)
c.840T>G
c.354T>G (p.Ile118Met)
c.891T>G (p.Ile297Met)
c.*163T>G (n.*163T>G)
c.897T>G (p.Ile299Met)
n.261T>G
n.3494T>G
c.401T>G
c.876T>G (p.Ile292Met)
c.*565T>G (n.*565T>G)
c.1084T>G (n.1084T>G)
c.954T>G (p.Ile318Met)
c.923-2582T>G (n.923-2582T>G)
c.960T>G (p.Ile320Met)
c.1002T>G (p.Ile334Met)
c.543T>G (p.Ile181Met)
5g.162149149G>ACA362182381GABRG2c.965G>A
c.1084G>A (p.Ala362Thr)
n.855G>A
c.1047G>A
n.218G>A
c.679G>A (p.Ala227Thr)
c.964G>A (p.Ala322Thr)
c.841G>A
c.355G>A (p.Ala119Thr)
c.892G>A (p.Ala298Thr)
c.*164G>A (n.*164G>A)
c.898G>A (p.Ala300Thr)
n.262G>A
n.3495G>A
c.402G>A
c.877G>A (p.Ala293Thr)
c.*566G>A (n.*566G>A)
c.1085G>A (n.1085G>A)
c.955G>A (p.Ala319Thr)
c.923-2581G>A (n.923-2581G>A)
c.961G>A (p.Ala321Thr)
c.1003G>A (p.Ala335Thr)
c.544G>A (p.Ala182Thr)
 COSMIC
5g.162149149G>CCA362182382GABRG2c.965G>C
c.1084G>C (p.Ala362Pro)
n.855G>C
c.1047G>C
n.218G>C
c.679G>C (p.Ala227Pro)
c.964G>C (p.Ala322Pro)
c.841G>C
c.355G>C (p.Ala119Pro)
c.892G>C (p.Ala298Pro)
c.*164G>C (n.*164G>C)
c.898G>C (p.Ala300Pro)
n.262G>C
n.3495G>C
c.402G>C
c.877G>C (p.Ala293Pro)
c.*566G>C (n.*566G>C)
c.1085G>C (n.1085G>C)
c.955G>C (p.Ala319Pro)
c.923-2581G>C (n.923-2581G>C)
c.961G>C (p.Ala321Pro)
c.1003G>C (p.Ala335Pro)
c.544G>C (p.Ala182Pro)
5g.162149149G>TCA362182383GABRG2c.965G>T
c.1084G>T (p.Ala362Ser)
n.855G>T
c.1047G>T
n.218G>T
c.679G>T (p.Ala227Ser)
c.964G>T (p.Ala322Ser)
c.841G>T
c.355G>T (p.Ala119Ser)
c.892G>T (p.Ala298Ser)
c.*164G>T (n.*164G>T)
c.898G>T (p.Ala300Ser)
n.262G>T
n.3495G>T
c.402G>T
c.877G>T (p.Ala293Ser)
c.*566G>T (n.*566G>T)
c.1085G>T (n.1085G>T)
c.955G>T (p.Ala319Ser)
c.923-2581G>T (n.923-2581G>T)
c.961G>T (p.Ala321Ser)
c.1003G>T (p.Ala335Ser)
c.544G>T (p.Ala182Ser)
 COSMIC
5g.162149150C>ACA362182386GABRG2c.966C>A
c.1085C>A (p.Ala362Asp)
n.856C>A
c.1048C>A
n.219C>A
c.680C>A (p.Ala227Asp)
c.965C>A (p.Ala322Asp)
c.842C>A
c.356C>A (p.Ala119Asp)
c.893C>A (p.Ala298Asp)
c.*165C>A (n.*165C>A)
c.899C>A (p.Ala300Asp)
n.263C>A
n.3496C>A
c.403C>A
c.878C>A (p.Ala293Asp)
c.*567C>A (n.*567C>A)
c.1086C>A (n.1086C>A)
c.956C>A (p.Ala319Asp)
c.923-2580C>A (n.923-2580C>A)
c.962C>A (p.Ala321Asp)
c.1004C>A (p.Ala335Asp)
c.545C>A (p.Ala182Asp)
 ClinVar dbSNP
5g.162149150C=CA1596380242GABRG2c.966C=
c.1085C= (p.Ala362=)
n.856C=
c.1048C=
n.219C=
c.680C= (p.Ala227=)
c.965C= (p.Ala322=)
c.842C=
c.356C= (p.Ala119=)
c.893C= (p.Ala298=)
c.*165C= (n.*165C=)
c.899C= (p.Ala300=)
n.263C=
n.3496C=
c.403C=
c.878C= (p.Ala293=)
c.*567C= (n.*567C=)
c.1086C= (n.1086C=)
c.956C= (p.Ala319=)
c.923-2580C= (n.923-2580C=)
c.962C= (p.Ala321=)
c.1004C= (p.Ala335=)
c.545C= (p.Ala182=)
5g.162149150C>GCA362182384GABRG2c.966C>G
c.1085C>G (p.Ala362Gly)
n.856C>G
c.1048C>G
n.219C>G
c.680C>G (p.Ala227Gly)
c.965C>G (p.Ala322Gly)
c.842C>G
c.356C>G (p.Ala119Gly)
c.893C>G (p.Ala298Gly)
c.*165C>G (n.*165C>G)
c.899C>G (p.Ala300Gly)
n.263C>G
n.3496C>G
c.403C>G
c.878C>G (p.Ala293Gly)
c.*567C>G (n.*567C>G)
c.1086C>G (n.1086C>G)
c.956C>G (p.Ala319Gly)
c.923-2580C>G (n.923-2580C>G)
c.962C>G (p.Ala321Gly)
c.1004C>G (p.Ala335Gly)
c.545C>G (p.Ala182Gly)
5g.162149150C>TCA362182385GABRG2c.966C>T
c.1085C>T (p.Ala362Val)
n.856C>T
c.1048C>T
n.219C>T
c.680C>T (p.Ala227Val)
c.965C>T (p.Ala322Val)
c.842C>T
c.356C>T (p.Ala119Val)
c.893C>T (p.Ala298Val)
c.*165C>T (n.*165C>T)
c.899C>T (p.Ala300Val)
n.263C>T
n.3496C>T
c.403C>T
c.878C>T (p.Ala293Val)
c.*567C>T (n.*567C>T)
c.1086C>T (n.1086C>T)
c.956C>T (p.Ala319Val)
c.923-2580C>T (n.923-2580C>T)
c.962C>T (p.Ala321Val)
c.1004C>T (p.Ala335Val)
c.545C>T (p.Ala182Val)
5g.162149151C>ACA447610253GABRG2c.967C>A
c.1086C>A (p.Ala362=)
n.857C>A
c.1049C>A
n.220C>A
c.681C>A (p.Ala227=)
c.966C>A (p.Ala322=)
c.843C>A
c.357C>A (p.Ala119=)
c.894C>A (p.Ala298=)
c.*166C>A (n.*166C>A)
c.900C>A (p.Ala300=)
n.264C>A
n.3497C>A
c.404C>A
c.879C>A (p.Ala293=)
c.*568C>A (n.*568C>A)
c.1087C>A (n.1087C>A)
c.957C>A (p.Ala319=)
c.923-2579C>A (n.923-2579C>A)
c.963C>A (p.Ala321=)
c.1005C>A (p.Ala335=)
c.546C>A (p.Ala182=)
5g.162149151C>GCA447610254GABRG2c.967C>G
c.1086C>G (p.Ala362=)
n.857C>G
c.1049C>G
n.220C>G
c.681C>G (p.Ala227=)
c.966C>G (p.Ala322=)
c.843C>G
c.357C>G (p.Ala119=)
c.894C>G (p.Ala298=)
c.*166C>G (n.*166C>G)
c.900C>G (p.Ala300=)
n.264C>G
n.3497C>G
c.404C>G
c.879C>G (p.Ala293=)
c.*568C>G (n.*568C>G)
c.1087C>G (n.1087C>G)
c.957C>G (p.Ala319=)
c.923-2579C>G (n.923-2579C>G)
c.963C>G (p.Ala321=)
c.1005C>G (p.Ala335=)
c.546C>G (p.Ala182=)
5g.162149151C>TCA447610255GABRG2c.967C>T
c.1086C>T (p.Ala362=)
n.857C>T
c.1049C>T
n.220C>T
c.681C>T (p.Ala227=)
c.966C>T (p.Ala322=)
c.843C>T
c.357C>T (p.Ala119=)
c.894C>T (p.Ala298=)
c.*166C>T (n.*166C>T)
c.900C>T (p.Ala300=)
n.264C>T
n.3497C>T
c.404C>T
c.879C>T (p.Ala293=)
c.*568C>T (n.*568C>T)
c.1087C>T (n.1087C>T)
c.957C>T (p.Ala319=)
c.923-2579C>T (n.923-2579C>T)
c.963C>T (p.Ala321=)
c.1005C>T (p.Ala335=)
c.546C>T (p.Ala182=)
5g.162149152C>ACA447610256GABRG2c.968C>A
c.1087C>A (p.Arg363=)
n.858C>A
c.1050C>A
n.221C>A
c.682C>A (p.Arg228=)
c.967C>A (p.Arg323=)
c.844C>A
c.358C>A (p.Arg120=)
c.895C>A (p.Arg299=)
c.*167C>A (n.*167C>A)
c.901C>A (p.Arg301=)
n.265C>A
n.3498C>A
c.405C>A
c.880C>A (p.Arg294=)
c.*569C>A (n.*569C>A)
c.1088C>A (n.1088C>A)
c.958C>A (p.Arg320=)
c.923-2578C>A (n.923-2578C>A)
c.964C>A (p.Arg322=)
c.1006C>A (p.Arg336=)
c.547C>A (p.Arg183=)
5g.162149152C=CA1596380243GABRG2c.968C=
c.1087C= (p.Arg363=)
n.858C=
c.1050C=
n.221C=
c.682C= (p.Arg228=)
c.967C= (p.Arg323=)
c.844C=
c.358C= (p.Arg120=)
c.895C= (p.Arg299=)
c.*167C= (n.*167C=)
c.901C= (p.Arg301=)
n.265C=
n.3498C=
c.405C=
c.880C= (p.Arg294=)
c.*569C= (n.*569C=)
c.1088C= (n.1088C=)
c.958C= (p.Arg320=)
c.923-2578C= (n.923-2578C=)
c.964C= (p.Arg322=)
c.1006C= (p.Arg336=)
c.547C= (p.Arg183=)
5g.162149152C>GCA362182387GABRG2c.968C>G
c.1087C>G (p.Arg363Gly)
n.858C>G
c.1050C>G
n.221C>G
c.682C>G (p.Arg228Gly)
c.967C>G (p.Arg323Gly)
c.844C>G
c.358C>G (p.Arg120Gly)
c.895C>G (p.Arg299Gly)
c.*167C>G (n.*167C>G)
c.901C>G (p.Arg301Gly)
n.265C>G
n.3498C>G
c.405C>G
c.880C>G (p.Arg294Gly)
c.*569C>G (n.*569C>G)
c.1088C>G (n.1088C>G)
c.958C>G (p.Arg320Gly)
c.923-2578C>G (n.923-2578C>G)
c.964C>G (p.Arg322Gly)
c.1006C>G (p.Arg336Gly)
c.547C>G (p.Arg183Gly)
 ClinVar dbSNP
5g.162149152C>TCA314732GABRG2c.968C>T
c.1087C>T (p.Arg363Trp)
n.858C>T
c.1050C>T
n.221C>T
c.682C>T (p.Arg228Trp)
c.967C>T (p.Arg323Trp)
c.844C>T
c.358C>T (p.Arg120Trp)
c.895C>T (p.Arg299Trp)
c.*167C>T (n.*167C>T)
c.901C>T (p.Arg301Trp)
n.265C>T
n.3498C>T
c.405C>T
c.880C>T (p.Arg294Trp)
c.*569C>T (n.*569C>T)
c.1088C>T (n.1088C>T)
c.958C>T (p.Arg320Trp)
c.923-2578C>T (n.923-2578C>T)
c.964C>T (p.Arg322Trp)
c.1006C>T (p.Arg336Trp)
c.547C>T (p.Arg183Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.162149153G>ACA144631GABRG2c.969G>A
c.1088G>A (p.Arg363Gln)
n.859G>A
c.1051G>A
n.222G>A
c.683G>A (p.Arg228Gln)
c.968G>A (p.Arg323Gln)
c.845G>A
c.359G>A (p.Arg120Gln)
c.896G>A (p.Arg299Gln)
c.*168G>A (n.*168G>A)
c.902G>A (p.Arg301Gln)
n.266G>A
n.3499G>A
c.406G>A
c.881G>A (p.Arg294Gln)
c.*570G>A (n.*570G>A)
c.1089G>A (n.1089G>A)
c.959G>A (p.Arg320Gln)
c.923-2577G>A (n.923-2577G>A)
c.965G>A (p.Arg322Gln)
c.1007G>A (p.Arg336Gln)
c.548G>A (p.Arg183Gln)
 ClinVar dbSNP gnomAD v2 COSMIC
5g.162149153G>CCA362182388GABRG2c.969G>C
c.1088G>C (p.Arg363Pro)
n.859G>C
c.1051G>C
n.222G>C
c.683G>C (p.Arg228Pro)
c.968G>C (p.Arg323Pro)
c.845G>C
c.359G>C (p.Arg120Pro)
c.896G>C (p.Arg299Pro)
c.*168G>C (n.*168G>C)
c.902G>C (p.Arg301Pro)
n.266G>C
n.3499G>C
c.406G>C
c.881G>C (p.Arg294Pro)
c.*570G>C (n.*570G>C)
c.1089G>C (n.1089G>C)
c.959G>C (p.Arg320Pro)
c.923-2577G>C (n.923-2577G>C)
c.965G>C (p.Arg322Pro)
c.1007G>C (p.Arg336Pro)
c.548G>C (p.Arg183Pro)
5g.162149153G=CA1596380244GABRG2c.969G=
c.1088G= (p.Arg363=)
n.859G=
c.1051G=
n.222G=
c.683G= (p.Arg228=)
c.968G= (p.Arg323=)
c.845G=
c.359G= (p.Arg120=)
c.896G= (p.Arg299=)
c.*168G= (n.*168G=)
c.902G= (p.Arg301=)
n.266G=
n.3499G=
c.406G=
c.881G= (p.Arg294=)
c.*570G= (n.*570G=)
c.1089G= (n.1089G=)
c.959G= (p.Arg320=)
c.923-2577G= (n.923-2577G=)
c.965G= (p.Arg322=)
c.1007G= (p.Arg336=)
c.548G= (p.Arg183=)
5g.162149153G>TCA362182389GABRG2c.969G>T
c.1088G>T (p.Arg363Leu)
n.859G>T
c.1051G>T
n.222G>T
c.683G>T (p.Arg228Leu)
c.968G>T (p.Arg323Leu)
c.845G>T
c.359G>T (p.Arg120Leu)
c.896G>T (p.Arg299Leu)
c.*168G>T (n.*168G>T)
c.902G>T (p.Arg301Leu)
n.266G>T
n.3499G>T
c.406G>T
c.881G>T (p.Arg294Leu)
c.*570G>T (n.*570G>T)
c.1089G>T (n.1089G>T)
c.959G>T (p.Arg320Leu)
c.923-2577G>T (n.923-2577G>T)
c.965G>T (p.Arg322Leu)
c.1007G>T (p.Arg336Leu)
c.548G>T (p.Arg183Leu)
5g.162149154G>ACA447610259GABRG2c.970G>A
c.1089G>A (p.Arg363=)
n.860G>A
c.1052G>A
n.223G>A
c.684G>A (p.Arg228=)
c.969G>A (p.Arg323=)
c.846G>A
c.360G>A (p.Arg120=)
c.897G>A (p.Arg299=)
c.*169G>A (n.*169G>A)
c.903G>A (p.Arg301=)
n.267G>A
n.3500G>A
c.407G>A
c.882G>A (p.Arg294=)
c.*571G>A (n.*571G>A)
c.1090G>A (n.1090G>A)
c.960G>A (p.Arg320=)
c.923-2576G>A (n.923-2576G>A)
c.966G>A (p.Arg322=)
c.1008G>A (p.Arg336=)
c.549G>A (p.Arg183=)
5g.162149154G>CCA447610257GABRG2c.970G>C
c.1089G>C (p.Arg363=)
n.860G>C
c.1052G>C
n.223G>C
c.684G>C (p.Arg228=)
c.969G>C (p.Arg323=)
c.846G>C
c.360G>C (p.Arg120=)
c.897G>C (p.Arg299=)
c.*169G>C (n.*169G>C)
c.903G>C (p.Arg301=)
n.267G>C
n.3500G>C
c.407G>C
c.882G>C (p.Arg294=)
c.*571G>C (n.*571G>C)
c.1090G>C (n.1090G>C)
c.960G>C (p.Arg320=)
c.923-2576G>C (n.923-2576G>C)
c.966G>C (p.Arg322=)
c.1008G>C (p.Arg336=)
c.549G>C (p.Arg183=)
5g.162149154G>TCA447610258GABRG2c.970G>T
c.1089G>T (p.Arg363=)
n.860G>T
c.1052G>T
n.223G>T
c.684G>T (p.Arg228=)
c.969G>T (p.Arg323=)
c.846G>T
c.360G>T (p.Arg120=)
c.897G>T (p.Arg299=)
c.*169G>T (n.*169G>T)
c.903G>T (p.Arg301=)
n.267G>T
n.3500G>T
c.407G>T
c.882G>T (p.Arg294=)
c.*571G>T (n.*571G>T)
c.1090G>T (n.1090G>T)
c.960G>T (p.Arg320=)
c.923-2576G>T (n.923-2576G>T)
c.966G>T (p.Arg322=)
c.1008G>T (p.Arg336=)
c.549G>T (p.Arg183=)
5g.162149155A>CCA362182390GABRG2c.971A>C
c.1090A>C (p.Lys364Gln)
n.861A>C
c.1053A>C
n.224A>C
c.685A>C (p.Lys229Gln)
c.970A>C (p.Lys324Gln)
c.847A>C
c.361A>C (p.Lys121Gln)
c.898A>C (p.Lys300Gln)
c.*170A>C (n.*170A>C)
c.904A>C (p.Lys302Gln)
n.268A>C
n.3501A>C
c.408A>C
c.883A>C (p.Lys295Gln)
c.*572A>C (n.*572A>C)
c.1091A>C (n.1091A>C)
c.961A>C (p.Lys321Gln)
c.923-2575A>C (n.923-2575A>C)
c.967A>C (p.Lys323Gln)
c.1009A>C (p.Lys337Gln)
c.550A>C (p.Lys184Gln)
5g.162149155A>GCA362182391GABRG2c.971A>G
c.1090A>G (p.Lys364Glu)
n.861A>G
c.1053A>G
n.224A>G
c.685A>G (p.Lys229Glu)
c.970A>G (p.Lys324Glu)
c.847A>G
c.361A>G (p.Lys121Glu)
c.898A>G (p.Lys300Glu)
c.*170A>G (n.*170A>G)
c.904A>G (p.Lys302Glu)
n.268A>G
n.3501A>G
c.408A>G
c.883A>G (p.Lys295Glu)
c.*572A>G (n.*572A>G)
c.1091A>G (n.1091A>G)
c.961A>G (p.Lys321Glu)
c.923-2575A>G (n.923-2575A>G)
c.967A>G (p.Lys323Glu)
c.1009A>G (p.Lys337Glu)
c.550A>G (p.Lys184Glu)
5g.162149155A>TCA362182392GABRG2c.971A>T
c.1090A>T (p.Lys364Ter)
n.861A>T
c.1053A>T
n.224A>T
c.685A>T (p.Lys229Ter)
c.970A>T (p.Lys324Ter)
c.847A>T
c.361A>T (p.Lys121Ter)
c.898A>T (p.Lys300Ter)
c.*170A>T (n.*170A>T)
c.904A>T (p.Lys302Ter)
n.268A>T
n.3501A>T
c.408A>T
c.883A>T (p.Lys295Ter)
c.*572A>T (n.*572A>T)
c.1091A>T (n.1091A>T)
c.961A>T (p.Lys321Ter)
c.923-2575A>T (n.923-2575A>T)
c.967A>T (p.Lys323Ter)
c.1009A>T (p.Lys337Ter)
c.550A>T (p.Lys184Ter)
5g.162149156A>CCA362182393GABRG2c.972A>C
c.1091A>C (p.Lys364Thr)
n.862A>C
c.1054A>C
n.225A>C
c.686A>C (p.Lys229Thr)
c.971A>C (p.Lys324Thr)
c.848A>C
c.362A>C (p.Lys121Thr)
c.899A>C (p.Lys300Thr)
c.*171A>C (n.*171A>C)
c.905A>C (p.Lys302Thr)
n.269A>C
n.3502A>C
c.409A>C
c.884A>C (p.Lys295Thr)
c.*573A>C (n.*573A>C)
c.1092A>C (n.1092A>C)
c.962A>C (p.Lys321Thr)
c.923-2574A>C (n.923-2574A>C)
c.968A>C (p.Lys323Thr)
c.1010A>C (p.Lys337Thr)
c.551A>C (p.Lys184Thr)
5g.162149156A>GCA362182394GABRG2c.972A>G
c.1091A>G (p.Lys364Arg)
n.862A>G
c.1054A>G
n.225A>G
c.686A>G (p.Lys229Arg)
c.971A>G (p.Lys324Arg)
c.848A>G
c.362A>G (p.Lys121Arg)
c.899A>G (p.Lys300Arg)
c.*171A>G (n.*171A>G)
c.905A>G (p.Lys302Arg)
n.269A>G
n.3502A>G
c.409A>G
c.884A>G (p.Lys295Arg)
c.*573A>G (n.*573A>G)
c.1092A>G (n.1092A>G)
c.962A>G (p.Lys321Arg)
c.923-2574A>G (n.923-2574A>G)
c.968A>G (p.Lys323Arg)
c.1010A>G (p.Lys337Arg)
c.551A>G (p.Lys184Arg)
5g.162149156A>TCA362182395GABRG2c.972A>T
c.1091A>T (p.Lys364Ile)
n.862A>T
c.1054A>T
n.225A>T
c.686A>T (p.Lys229Ile)
c.971A>T (p.Lys324Ile)
c.848A>T
c.362A>T (p.Lys121Ile)
c.899A>T (p.Lys300Ile)
c.*171A>T (n.*171A>T)
c.905A>T (p.Lys302Ile)
n.269A>T
n.3502A>T
c.409A>T
c.884A>T (p.Lys295Ile)
c.*573A>T (n.*573A>T)
c.1092A>T (n.1092A>T)
c.962A>T (p.Lys321Ile)
c.923-2574A>T (n.923-2574A>T)
c.968A>T (p.Lys323Ile)
c.1010A>T (p.Lys337Ile)
c.551A>T (p.Lys184Ile)
5g.162149157A=CA1596380245GABRG2c.973A=
c.1092A= (p.Lys364=)
n.863A=
c.1055A=
n.226A=
c.687A= (p.Lys229=)
c.972A= (p.Lys324=)
c.849A=
c.363A= (p.Lys121=)
c.900A= (p.Lys300=)
c.*172A= (n.*172A=)
c.906A= (p.Lys302=)
n.270A=
n.3503A=
c.410A=
c.885A= (p.Lys295=)
c.*574A= (n.*574A=)
c.1093A= (n.1093A=)
c.963A= (p.Lys321=)
c.923-2573A= (n.923-2573A=)
c.969A= (p.Lys323=)
c.1011A= (p.Lys337=)
c.552A= (p.Lys184=)
5g.162149157A>CCA362182397GABRG2c.973A>C
c.1092A>C (p.Lys364Asn)
n.863A>C
c.1055A>C
n.226A>C
c.687A>C (p.Lys229Asn)
c.972A>C (p.Lys324Asn)
c.849A>C
c.363A>C (p.Lys121Asn)
c.900A>C (p.Lys300Asn)
c.*172A>C (n.*172A>C)
c.906A>C (p.Lys302Asn)
n.270A>C
n.3503A>C
c.410A>C
c.885A>C (p.Lys295Asn)
c.*574A>C (n.*574A>C)
c.1093A>C (n.1093A>C)
c.963A>C (p.Lys321Asn)
c.923-2573A>C (n.923-2573A>C)
c.969A>C (p.Lys323Asn)
c.1011A>C (p.Lys337Asn)
c.552A>C (p.Lys184Asn)
5g.162149157A>GCA3544860GABRG2c.973A>G
c.1092A>G (p.Lys364=)
n.863A>G
c.1055A>G
n.226A>G
c.687A>G (p.Lys229=)
c.972A>G (p.Lys324=)
c.849A>G
c.363A>G (p.Lys121=)
c.900A>G (p.Lys300=)
c.*172A>G (n.*172A>G)
c.906A>G (p.Lys302=)
n.270A>G
n.3503A>G
c.410A>G
c.885A>G (p.Lys295=)
c.*574A>G (n.*574A>G)
c.1093A>G (n.1093A>G)
c.963A>G (p.Lys321=)
c.923-2573A>G (n.923-2573A>G)
c.969A>G (p.Lys323=)
c.1011A>G (p.Lys337=)
c.552A>G (p.Lys184=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149157A>TCA362182396GABRG2c.973A>T
c.1092A>T (p.Lys364Asn)
n.863A>T
c.1055A>T
n.226A>T
c.687A>T (p.Lys229Asn)
c.972A>T (p.Lys324Asn)
c.849A>T
c.363A>T (p.Lys121Asn)
c.900A>T (p.Lys300Asn)
c.*172A>T (n.*172A>T)
c.906A>T (p.Lys302Asn)
n.270A>T
n.3503A>T
c.410A>T
c.885A>T (p.Lys295Asn)
c.*574A>T (n.*574A>T)
c.1093A>T (n.1093A>T)
c.963A>T (p.Lys321Asn)
c.923-2573A>T (n.923-2573A>T)
c.969A>T (p.Lys323Asn)
c.1011A>T (p.Lys337Asn)
c.552A>T (p.Lys184Asn)
5g.162149158T>ACA362182398GABRG2c.974T>A
c.1093T>A (p.Ser365Thr)
n.864T>A
c.1056T>A
n.227T>A
c.688T>A (p.Ser230Thr)
c.973T>A (p.Ser325Thr)
c.850T>A
c.364T>A (p.Ser122Thr)
c.901T>A (p.Ser301Thr)
c.*173T>A (n.*173T>A)
c.907T>A (p.Ser303Thr)
n.271T>A
n.3504T>A
c.411T>A
c.886T>A (p.Ser296Thr)
c.*575T>A (n.*575T>A)
c.1094T>A (n.1094T>A)
c.964T>A (p.Ser322Thr)
c.923-2572T>A (n.923-2572T>A)
c.970T>A (p.Ser324Thr)
c.1012T>A (p.Ser338Thr)
c.553T>A (p.Ser185Thr)
5g.162149158T>CCA362182399GABRG2c.974T>C
c.1093T>C (p.Ser365Pro)
n.864T>C
c.1056T>C
n.227T>C
c.688T>C (p.Ser230Pro)
c.973T>C (p.Ser325Pro)
c.850T>C
c.364T>C (p.Ser122Pro)
c.901T>C (p.Ser301Pro)
c.*173T>C (n.*173T>C)
c.907T>C (p.Ser303Pro)
n.271T>C
n.3504T>C
c.411T>C
c.886T>C (p.Ser296Pro)
c.*575T>C (n.*575T>C)
c.1094T>C (n.1094T>C)
c.964T>C (p.Ser322Pro)
c.923-2572T>C (n.923-2572T>C)
c.970T>C (p.Ser324Pro)
c.1012T>C (p.Ser338Pro)
c.553T>C (p.Ser185Pro)
5g.162149158T>GCA362182400GABRG2c.974T>G
c.1093T>G (p.Ser365Ala)
n.864T>G
c.1056T>G
n.227T>G
c.688T>G (p.Ser230Ala)
c.973T>G (p.Ser325Ala)
c.850T>G
c.364T>G (p.Ser122Ala)
c.901T>G (p.Ser301Ala)
c.*173T>G (n.*173T>G)
c.907T>G (p.Ser303Ala)
n.271T>G
n.3504T>G
c.411T>G
c.886T>G (p.Ser296Ala)
c.*575T>G (n.*575T>G)
c.1094T>G (n.1094T>G)
c.964T>G (p.Ser322Ala)
c.923-2572T>G (n.923-2572T>G)
c.970T>G (p.Ser324Ala)
c.1012T>G (p.Ser338Ala)
c.553T>G (p.Ser185Ala)
5g.162149159C>ACA362182401GABRG2c.975C>A
c.1094C>A (p.Ser365Ter)
n.865C>A
c.1057C>A
n.228C>A
c.689C>A (p.Ser230Ter)
c.974C>A (p.Ser325Ter)
c.851C>A
c.365C>A (p.Ser122Ter)
c.902C>A (p.Ser301Ter)
c.*174C>A (n.*174C>A)
c.908C>A (p.Ser303Ter)
n.272C>A
n.3505C>A
c.412C>A
c.887C>A (p.Ser296Ter)
c.*576C>A (n.*576C>A)
c.1095C>A (n.1095C>A)
c.965C>A (p.Ser322Ter)
c.923-2571C>A (n.923-2571C>A)
c.971C>A (p.Ser324Ter)
c.1013C>A (p.Ser338Ter)
c.554C>A (p.Ser185Ter)
5g.162149159C=CA1596380246GABRG2c.975C=
c.1094C= (p.Ser365=)
n.865C=
c.1057C=
n.228C=
c.689C= (p.Ser230=)
c.974C= (p.Ser325=)
c.851C=
c.365C= (p.Ser122=)
c.902C= (p.Ser301=)
c.*174C= (n.*174C=)
c.908C= (p.Ser303=)
n.272C=
n.3505C=
c.412C=
c.887C= (p.Ser296=)
c.*576C= (n.*576C=)
c.1095C= (n.1095C=)
c.965C= (p.Ser322=)
c.923-2571C= (n.923-2571C=)
c.971C= (p.Ser324=)
c.1013C= (p.Ser338=)
c.554C= (p.Ser185=)
5g.162149159C>GCA362182402GABRG2c.975C>G
c.1094C>G (p.Ser365Trp)
n.865C>G
c.1057C>G
n.228C>G
c.689C>G (p.Ser230Trp)
c.974C>G (p.Ser325Trp)
c.851C>G
c.365C>G (p.Ser122Trp)
c.902C>G (p.Ser301Trp)
c.*174C>G (n.*174C>G)
c.908C>G (p.Ser303Trp)
n.272C>G
n.3505C>G
c.412C>G
c.887C>G (p.Ser296Trp)
c.*576C>G (n.*576C>G)
c.1095C>G (n.1095C>G)
c.965C>G (p.Ser322Trp)
c.923-2571C>G (n.923-2571C>G)
c.971C>G (p.Ser324Trp)
c.1013C>G (p.Ser338Trp)
c.554C>G (p.Ser185Trp)
5g.162149159C>TCA362182403GABRG2c.975C>T
c.1094C>T (p.Ser365Leu)
n.865C>T
c.1057C>T
n.228C>T
c.689C>T (p.Ser230Leu)
c.974C>T (p.Ser325Leu)
c.851C>T
c.365C>T (p.Ser122Leu)
c.902C>T (p.Ser301Leu)
c.*174C>T (n.*174C>T)
c.908C>T (p.Ser303Leu)
n.272C>T
n.3505C>T
c.412C>T
c.887C>T (p.Ser296Leu)
c.*576C>T (n.*576C>T)
c.1095C>T (n.1095C>T)
c.965C>T (p.Ser322Leu)
c.923-2571C>T (n.923-2571C>T)
c.971C>T (p.Ser324Leu)
c.1013C>T (p.Ser338Leu)
c.554C>T (p.Ser185Leu)
 ClinVar dbSNP COSMIC
5g.162149160G>ACA3544861GABRG2c.976G>A
c.1095G>A (p.Ser365=)
n.866G>A
c.1058G>A
n.229G>A
c.690G>A (p.Ser230=)
c.975G>A (p.Ser325=)
c.852G>A
c.366G>A (p.Ser122=)
c.903G>A (p.Ser301=)
c.*175G>A (n.*175G>A)
c.909G>A (p.Ser303=)
n.273G>A
n.3506G>A
c.413G>A
c.888G>A (p.Ser296=)
c.*577G>A (n.*577G>A)
c.1096G>A (n.1096G>A)
c.966G>A (p.Ser322=)
c.923-2570G>A (n.923-2570G>A)
c.972G>A (p.Ser324=)
c.1014G>A (p.Ser338=)
c.555G>A (p.Ser185=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149160G>CCA447610260GABRG2c.976G>C
c.1095G>C (p.Ser365=)
n.866G>C
c.1058G>C
n.229G>C
c.690G>C (p.Ser230=)
c.975G>C (p.Ser325=)
c.852G>C
c.366G>C (p.Ser122=)
c.903G>C (p.Ser301=)
c.*175G>C (n.*175G>C)
c.909G>C (p.Ser303=)
n.273G>C
n.3506G>C
c.413G>C
c.888G>C (p.Ser296=)
c.*577G>C (n.*577G>C)
c.1096G>C (n.1096G>C)
c.966G>C (p.Ser322=)
c.923-2570G>C (n.923-2570G>C)
c.972G>C (p.Ser324=)
c.1014G>C (p.Ser338=)
c.555G>C (p.Ser185=)
5g.162149160G=CA1596380247GABRG2c.976G=
c.1095G= (p.Ser365=)
n.866G=
c.1058G=
n.229G=
c.690G= (p.Ser230=)
c.975G= (p.Ser325=)
c.852G=
c.366G= (p.Ser122=)
c.903G= (p.Ser301=)
c.*175G= (n.*175G=)
c.909G= (p.Ser303=)
n.273G=
n.3506G=
c.413G=
c.888G= (p.Ser296=)
c.*577G= (n.*577G=)
c.1096G= (n.1096G=)
c.966G= (p.Ser322=)
c.923-2570G= (n.923-2570G=)
c.972G= (p.Ser324=)
c.1014G= (p.Ser338=)
c.555G= (p.Ser185=)
5g.162149160G>TCA447610261GABRG2c.976G>T
c.1095G>T (p.Ser365=)
n.866G>T
c.1058G>T
n.229G>T
c.690G>T (p.Ser230=)
c.975G>T (p.Ser325=)
c.852G>T
c.366G>T (p.Ser122=)
c.903G>T (p.Ser301=)
c.*175G>T (n.*175G>T)
c.909G>T (p.Ser303=)
n.273G>T
n.3506G>T
c.413G>T
c.888G>T (p.Ser296=)
c.*577G>T (n.*577G>T)
c.1096G>T (n.1096G>T)
c.966G>T (p.Ser322=)
c.923-2570G>T (n.923-2570G>T)
c.972G>T (p.Ser324=)
c.1014G>T (p.Ser338=)
c.555G>T (p.Ser185=)
5g.162149161C>ACA362182404GABRG2c.977C>A
c.1096C>A (p.Leu366Ile)
n.867C>A
c.1059C>A
n.230C>A
c.691C>A (p.Leu231Ile)
c.976C>A (p.Leu326Ile)
c.853C>A
c.367C>A (p.Leu123Ile)
c.904C>A (p.Leu302Ile)
c.*176C>A (n.*176C>A)
c.910C>A (p.Leu304Ile)
n.274C>A
n.3507C>A
c.414C>A
c.889C>A (p.Leu297Ile)
c.*578C>A (n.*578C>A)
c.1097C>A (n.1097C>A)
c.967C>A (p.Leu323Ile)
c.923-2569C>A (n.923-2569C>A)
c.973C>A (p.Leu325Ile)
c.1015C>A (p.Leu339Ile)
c.556C>A (p.Leu186Ile)
5g.162149161C>GCA362182406GABRG2c.977C>G
c.1096C>G (p.Leu366Val)
n.867C>G
c.1059C>G
n.230C>G
c.691C>G (p.Leu231Val)
c.976C>G (p.Leu326Val)
c.853C>G
c.367C>G (p.Leu123Val)
c.904C>G (p.Leu302Val)
c.*176C>G (n.*176C>G)
c.910C>G (p.Leu304Val)
n.274C>G
n.3507C>G
c.414C>G
c.889C>G (p.Leu297Val)
c.*578C>G (n.*578C>G)
c.1097C>G (n.1097C>G)
c.967C>G (p.Leu323Val)
c.923-2569C>G (n.923-2569C>G)
c.973C>G (p.Leu325Val)
c.1015C>G (p.Leu339Val)
c.556C>G (p.Leu186Val)
5g.162149161C>TCA362182405GABRG2c.977C>T
c.1096C>T (p.Leu366Phe)
n.867C>T
c.1059C>T
n.230C>T
c.691C>T (p.Leu231Phe)
c.976C>T (p.Leu326Phe)
c.853C>T
c.367C>T (p.Leu123Phe)
c.904C>T (p.Leu302Phe)
c.*176C>T (n.*176C>T)
c.910C>T (p.Leu304Phe)
n.274C>T
n.3507C>T
c.414C>T
c.889C>T (p.Leu297Phe)
c.*578C>T (n.*578C>T)
c.1097C>T (n.1097C>T)
c.967C>T (p.Leu323Phe)
c.923-2569C>T (n.923-2569C>T)
c.973C>T (p.Leu325Phe)
c.1015C>T (p.Leu339Phe)
c.556C>T (p.Leu186Phe)
5g.162149162T>ACA362182407GABRG2c.978T>A
c.1097T>A (p.Leu366His)
n.868T>A
c.1060T>A
n.231T>A
c.692T>A (p.Leu231His)
c.977T>A (p.Leu326His)
c.854T>A
c.368T>A (p.Leu123His)
c.905T>A (p.Leu302His)
c.*177T>A (n.*177T>A)
c.911T>A (p.Leu304His)
n.275T>A
n.3508T>A
c.415T>A
c.890T>A (p.Leu297His)
c.*579T>A (n.*579T>A)
c.1098T>A (n.1098T>A)
c.968T>A (p.Leu323His)
c.923-2568T>A (n.923-2568T>A)
c.974T>A (p.Leu325His)
c.1016T>A (p.Leu339His)
c.557T>A (p.Leu186His)
5g.162149162T>CCA362182408GABRG2c.978T>C
c.1097T>C (p.Leu366Pro)
n.868T>C
c.1060T>C
n.231T>C
c.692T>C (p.Leu231Pro)
c.977T>C (p.Leu326Pro)
c.854T>C
c.368T>C (p.Leu123Pro)
c.905T>C (p.Leu302Pro)
c.*177T>C (n.*177T>C)
c.911T>C (p.Leu304Pro)
n.275T>C
n.3508T>C
c.415T>C
c.890T>C (p.Leu297Pro)
c.*579T>C (n.*579T>C)
c.1098T>C (n.1098T>C)
c.968T>C (p.Leu323Pro)
c.923-2568T>C (n.923-2568T>C)
c.974T>C (p.Leu325Pro)
c.1016T>C (p.Leu339Pro)
c.557T>C (p.Leu186Pro)
5g.162149162T>GCA362182409GABRG2c.978T>G
c.1097T>G (p.Leu366Arg)
n.868T>G
c.1060T>G
n.231T>G
c.692T>G (p.Leu231Arg)
c.977T>G (p.Leu326Arg)
c.854T>G
c.368T>G (p.Leu123Arg)
c.905T>G (p.Leu302Arg)
c.*177T>G (n.*177T>G)
c.911T>G (p.Leu304Arg)
n.275T>G
n.3508T>G
c.415T>G
c.890T>G (p.Leu297Arg)
c.*579T>G (n.*579T>G)
c.1098T>G (n.1098T>G)
c.968T>G (p.Leu323Arg)
c.923-2568T>G (n.923-2568T>G)
c.974T>G (p.Leu325Arg)
c.1016T>G (p.Leu339Arg)
c.557T>G (p.Leu186Arg)
5g.162149163C>ACA447610262GABRG2c.979C>A
c.1098C>A (p.Leu366=)
n.869C>A
c.1061C>A
n.232C>A
c.693C>A (p.Leu231=)
c.978C>A (p.Leu326=)
c.855C>A
c.369C>A (p.Leu123=)
c.906C>A (p.Leu302=)
c.*178C>A (n.*178C>A)
c.912C>A (p.Leu304=)
n.276C>A
n.3509C>A
c.416C>A
c.891C>A (p.Leu297=)
c.*580C>A (n.*580C>A)
c.1099C>A (n.1099C>A)
c.969C>A (p.Leu323=)
c.923-2567C>A (n.923-2567C>A)
c.975C>A (p.Leu325=)
c.1017C>A (p.Leu339=)
c.558C>A (p.Leu186=)
5g.162149163C=CA1596380248GABRG2c.979C=
c.1098C= (p.Leu366=)
n.869C=
c.1061C=
n.232C=
c.693C= (p.Leu231=)
c.978C= (p.Leu326=)
c.855C=
c.369C= (p.Leu123=)
c.906C= (p.Leu302=)
c.*178C= (n.*178C=)
c.912C= (p.Leu304=)
n.276C=
n.3509C=
c.416C=
c.891C= (p.Leu297=)
c.*580C= (n.*580C=)
c.1099C= (n.1099C=)
c.969C= (p.Leu323=)
c.923-2567C= (n.923-2567C=)
c.975C= (p.Leu325=)
c.1017C= (p.Leu339=)
c.558C= (p.Leu186=)
5g.162149163C>GCA447610263GABRG2c.979C>G
c.1098C>G (p.Leu366=)
n.869C>G
c.1061C>G
n.232C>G
c.693C>G (p.Leu231=)
c.978C>G (p.Leu326=)
c.855C>G
c.369C>G (p.Leu123=)
c.906C>G (p.Leu302=)
c.*178C>G (n.*178C>G)
c.912C>G (p.Leu304=)
n.276C>G
n.3509C>G
c.416C>G
c.891C>G (p.Leu297=)
c.*580C>G (n.*580C>G)
c.1099C>G (n.1099C>G)
c.969C>G (p.Leu323=)
c.923-2567C>G (n.923-2567C>G)
c.975C>G (p.Leu325=)
c.1017C>G (p.Leu339=)
c.558C>G (p.Leu186=)
5g.162149163C>TCA3544862GABRG2c.979C>T
c.1098C>T (p.Leu366=)
n.869C>T
c.1061C>T
n.232C>T
c.693C>T (p.Leu231=)
c.978C>T (p.Leu326=)
c.855C>T
c.369C>T (p.Leu123=)
c.906C>T (p.Leu302=)
c.*178C>T (n.*178C>T)
c.912C>T (p.Leu304=)
n.276C>T
n.3509C>T
c.416C>T
c.891C>T (p.Leu297=)
c.*580C>T (n.*580C>T)
c.1099C>T (n.1099C>T)
c.969C>T (p.Leu323=)
c.923-2567C>T (n.923-2567C>T)
c.975C>T (p.Leu325=)
c.1017C>T (p.Leu339=)
c.558C>T (p.Leu186=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162149164C>ACA362182410GABRG2c.980C>A
c.1099C>A (p.Pro367Thr)
n.870C>A
c.1062C>A
n.233C>A
c.694C>A (p.Pro232Thr)
c.979C>A (p.Pro327Thr)
c.856C>A
c.370C>A (p.Pro124Thr)
c.907C>A (p.Pro303Thr)
c.*179C>A (n.*179C>A)
c.913C>A (p.Pro305Thr)
n.277C>A
n.3510C>A
c.417C>A
c.892C>A (p.Pro298Thr)
c.*581C>A (n.*581C>A)
c.1100C>A (n.1100C>A)
c.970C>A (p.Pro324Thr)
c.923-2566C>A (n.923-2566C>A)
c.976C>A (p.Pro326Thr)
c.1018C>A (p.Pro340Thr)
c.559C>A (p.Pro187Thr)
5g.162149164C>GCA362182412GABRG2c.980C>G
c.1099C>G (p.Pro367Ala)
n.870C>G
c.1062C>G
n.233C>G
c.694C>G (p.Pro232Ala)
c.979C>G (p.Pro327Ala)
c.856C>G
c.370C>G (p.Pro124Ala)
c.907C>G (p.Pro303Ala)
c.*179C>G (n.*179C>G)
c.913C>G (p.Pro305Ala)
n.277C>G
n.3510C>G
c.417C>G
c.892C>G (p.Pro298Ala)
c.*581C>G (n.*581C>G)
c.1100C>G (n.1100C>G)
c.970C>G (p.Pro324Ala)
c.923-2566C>G (n.923-2566C>G)
c.976C>G (p.Pro326Ala)
c.1018C>G (p.Pro340Ala)
c.559C>G (p.Pro187Ala)
5g.162149164C>TCA362182411GABRG2c.980C>T
c.1099C>T (p.Pro367Ser)
n.870C>T
c.1062C>T
n.233C>T
c.694C>T (p.Pro232Ser)
c.979C>T (p.Pro327Ser)
c.856C>T
c.370C>T (p.Pro124Ser)
c.907C>T (p.Pro303Ser)
c.*179C>T (n.*179C>T)
c.913C>T (p.Pro305Ser)
n.277C>T
n.3510C>T
c.417C>T
c.892C>T (p.Pro298Ser)
c.*581C>T (n.*581C>T)
c.1100C>T (n.1100C>T)
c.970C>T (p.Pro324Ser)
c.923-2566C>T (n.923-2566C>T)
c.976C>T (p.Pro326Ser)
c.1018C>T (p.Pro340Ser)
c.559C>T (p.Pro187Ser)
5g.162149165C>ACA362182413GABRG2c.981C>A
c.1100C>A (p.Pro367His)
n.871C>A
c.1063C>A
n.234C>A
c.695C>A (p.Pro232His)
c.980C>A (p.Pro327His)
c.857C>A
c.371C>A (p.Pro124His)
c.908C>A (p.Pro303His)
c.*180C>A (n.*180C>A)
c.914C>A (p.Pro305His)
n.278C>A
n.3511C>A
c.418C>A
c.893C>A (p.Pro298His)
c.*582C>A (n.*582C>A)
c.1101C>A (n.1101C>A)
c.971C>A (p.Pro324His)
c.923-2565C>A (n.923-2565C>A)
c.977C>A (p.Pro326His)
c.1019C>A (p.Pro340His)
c.560C>A (p.Pro187His)
5g.162149165C>GCA362182414GABRG2c.981C>G
c.1100C>G (p.Pro367Arg)
n.871C>G
c.1063C>G
n.234C>G
c.695C>G (p.Pro232Arg)
c.980C>G (p.Pro327Arg)
c.857C>G
c.371C>G (p.Pro124Arg)
c.908C>G (p.Pro303Arg)
c.*180C>G (n.*180C>G)
c.914C>G (p.Pro305Arg)
n.278C>G
n.3511C>G
c.418C>G
c.893C>G (p.Pro298Arg)
c.*582C>G (n.*582C>G)
c.1101C>G (n.1101C>G)
c.971C>G (p.Pro324Arg)
c.923-2565C>G (n.923-2565C>G)
c.977C>G (p.Pro326Arg)
c.1019C>G (p.Pro340Arg)
c.560C>G (p.Pro187Arg)
5g.162149165C>TCA362182415GABRG2c.981C>T
c.1100C>T (p.Pro367Leu)
n.871C>T
c.1063C>T
n.234C>T
c.695C>T (p.Pro232Leu)
c.980C>T (p.Pro327Leu)
c.857C>T
c.371C>T (p.Pro124Leu)
c.908C>T (p.Pro303Leu)
c.*180C>T (n.*180C>T)
c.914C>T (p.Pro305Leu)
n.278C>T
n.3511C>T
c.418C>T
c.893C>T (p.Pro298Leu)
c.*582C>T (n.*582C>T)
c.1101C>T (n.1101C>T)
c.971C>T (p.Pro324Leu)
c.923-2565C>T (n.923-2565C>T)
c.977C>T (p.Pro326Leu)
c.1019C>T (p.Pro340Leu)
c.560C>T (p.Pro187Leu)
5g.162149166C>ACA447610264GABRG2c.982C>A
c.1101C>A (p.Pro367=)
n.872C>A
c.1064C>A
n.235C>A
c.696C>A (p.Pro232=)
c.981C>A (p.Pro327=)
c.858C>A
c.372C>A (p.Pro124=)
c.909C>A (p.Pro303=)
c.*181C>A (n.*181C>A)
c.915C>A (p.Pro305=)
n.279C>A
n.3512C>A
c.419C>A
c.894C>A (p.Pro298=)
c.*583C>A (n.*583C>A)
c.1102C>A (n.1102C>A)
c.972C>A (p.Pro324=)
c.923-2564C>A (n.923-2564C>A)
c.978C>A (p.Pro326=)
c.1020C>A (p.Pro340=)
c.561C>A (p.Pro187=)
5g.162149166C=CA1596380249GABRG2c.982C=
c.1101C= (p.Pro367=)
n.872C=
c.1064C=
n.235C=
c.696C= (p.Pro232=)
c.981C= (p.Pro327=)
c.858C=
c.372C= (p.Pro124=)
c.909C= (p.Pro303=)
c.*181C= (n.*181C=)
c.915C= (p.Pro305=)
n.279C=
n.3512C=
c.419C=
c.894C= (p.Pro298=)
c.*583C= (n.*583C=)
c.1102C= (n.1102C=)
c.972C= (p.Pro324=)
c.923-2564C= (n.923-2564C=)
c.978C= (p.Pro326=)
c.1020C= (p.Pro340=)
c.561C= (p.Pro187=)
5g.162149166C>GCA447610265GABRG2c.982C>G
c.1101C>G (p.Pro367=)
n.872C>G
c.1064C>G
n.235C>G
c.696C>G (p.Pro232=)
c.981C>G (p.Pro327=)
c.858C>G
c.372C>G (p.Pro124=)
c.909C>G (p.Pro303=)
c.*181C>G (n.*181C>G)
c.915C>G (p.Pro305=)
n.279C>G
n.3512C>G
c.419C>G
c.894C>G (p.Pro298=)
c.*583C>G (n.*583C>G)
c.1102C>G (n.1102C>G)
c.972C>G (p.Pro324=)
c.923-2564C>G (n.923-2564C>G)
c.978C>G (p.Pro326=)
c.1020C>G (p.Pro340=)
c.561C>G (p.Pro187=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.162149166C>TCA447610266GABRG2c.982C>T
c.1101C>T (p.Pro367=)
n.872C>T
c.1064C>T
n.235C>T
c.696C>T (p.Pro232=)
c.981C>T (p.Pro327=)
c.858C>T
c.372C>T (p.Pro124=)
c.909C>T (p.Pro303=)
c.*181C>T (n.*181C>T)
c.915C>T (p.Pro305=)
n.279C>T
n.3512C>T
c.419C>T
c.894C>T (p.Pro298=)
c.*583C>T (n.*583C>T)
c.1102C>T (n.1102C>T)
c.972C>T (p.Pro324=)
c.923-2564C>T (n.923-2564C>T)
c.978C>T (p.Pro326=)
c.1020C>T (p.Pro340=)
c.561C>T (p.Pro187=)
5g.162149167A>CCA362182416GABRG2c.983A>C
c.1102A>C (p.Lys368Gln)
c.1065A>C
n.236A>C
c.697A>C (p.Lys233Gln)
c.982A>C (p.Lys328Gln)
c.859A>C
c.373A>C (p.Lys125Gln)
c.910A>C (p.Lys304Gln)
c.*182A>C (n.*182A>C)
c.916A>C (p.Lys306Gln)
n.280A>C
n.3513A>C
c.420A>C
c.895A>C (p.Lys299Gln)
c.*584A>C (n.*584A>C)
c.1103A>C (n.1103A>C)
c.973A>C (p.Lys325Gln)
c.923-2563A>C (n.923-2563A>C)
c.979A>C (p.Lys327Gln)
c.1021A>C (p.Lys341Gln)
c.562A>C (p.Lys188Gln)
5g.162149167A>GCA362182417GABRG2c.983A>G
c.1102A>G (p.Lys368Glu)
c.1065A>G
n.236A>G
c.697A>G (p.Lys233Glu)
c.982A>G (p.Lys328Glu)
c.859A>G
c.373A>G (p.Lys125Glu)
c.910A>G (p.Lys304Glu)
c.*182A>G (n.*182A>G)
c.916A>G (p.Lys306Glu)
n.280A>G
n.3513A>G
c.420A>G
c.895A>G (p.Lys299Glu)
c.*584A>G (n.*584A>G)
c.1103A>G (n.1103A>G)
c.973A>G (p.Lys325Glu)
c.923-2563A>G (n.923-2563A>G)
c.979A>G (p.Lys327Glu)
c.1021A>G (p.Lys341Glu)
c.562A>G (p.Lys188Glu)
5g.162149167A>TCA362182418GABRG2c.983A>T
c.1102A>T (p.Lys368Ter)
c.1065A>T
n.236A>T
c.697A>T (p.Lys233Ter)
c.982A>T (p.Lys328Ter)
c.859A>T
c.373A>T (p.Lys125Ter)
c.910A>T (p.Lys304Ter)
c.*182A>T (n.*182A>T)
c.916A>T (p.Lys306Ter)
n.280A>T
n.3513A>T
c.420A>T
c.895A>T (p.Lys299Ter)
c.*584A>T (n.*584A>T)
c.1103A>T (n.1103A>T)
c.973A>T (p.Lys325Ter)
c.923-2563A>T (n.923-2563A>T)
c.979A>T (p.Lys327Ter)
c.1021A>T (p.Lys341Ter)
c.562A>T (p.Lys188Ter)
5g.162149168A=CA1596380250GABRG2c.984A=
c.1103A= (p.Lys368=)
c.1066A=
n.237A=
c.698A= (p.Lys233=)
c.983A= (p.Lys328=)
c.860A=
c.374A= (p.Lys125=)
c.911A= (p.Lys304=)
c.*183A= (n.*183A=)
c.917A= (p.Lys306=)
n.281A=
n.3514A=
c.421A=
c.896A= (p.Lys299=)
c.*585A= (n.*585A=)
c.1104A= (n.1104A=)
c.974A= (p.Lys325=)
c.923-2562A= (n.923-2562A=)
c.980A= (p.Lys327=)
c.1022A= (p.Lys341=)
c.563A= (p.Lys188=)
5g.162149168A>CCA362182419GABRG2c.984A>C
c.1103A>C (p.Lys368Thr)
c.1066A>C
n.237A>C
c.698A>C (p.Lys233Thr)
c.983A>C (p.Lys328Thr)
c.860A>C
c.374A>C (p.Lys125Thr)
c.911A>C (p.Lys304Thr)
c.*183A>C (n.*183A>C)
c.917A>C (p.Lys306Thr)
n.281A>C
n.3514A>C
c.421A>C
c.896A>C (p.Lys299Thr)
c.*585A>C (n.*585A>C)
c.1104A>C (n.1104A>C)
c.974A>C (p.Lys325Thr)
c.923-2562A>C (n.923-2562A>C)
c.980A>C (p.Lys327Thr)
c.1022A>C (p.Lys341Thr)
c.563A>C (p.Lys188Thr)
5g.162149168A>GCA362182420GABRG2c.984A>G
c.1103A>G (p.Lys368Arg)
c.1066A>G
n.237A>G
c.698A>G (p.Lys233Arg)
c.983A>G (p.Lys328Arg)
c.860A>G
c.374A>G (p.Lys125Arg)
c.911A>G (p.Lys304Arg)
c.*183A>G (n.*183A>G)
c.917A>G (p.Lys306Arg)
n.281A>G
n.3514A>G
c.421A>G
c.896A>G (p.Lys299Arg)
c.*585A>G (n.*585A>G)
c.1104A>G (n.1104A>G)
c.974A>G (p.Lys325Arg)
c.923-2562A>G (n.923-2562A>G)
c.980A>G (p.Lys327Arg)
c.1022A>G (p.Lys341Arg)
c.563A>G (p.Lys188Arg)
5g.162149168A>TCA126265GABRG2c.984A>T
c.1103A>T (p.Lys368Met)
c.1066A>T
n.237A>T
c.698A>T (p.Lys233Met)
c.983A>T (p.Lys328Met)
c.860A>T
c.374A>T (p.Lys125Met)
c.911A>T (p.Lys304Met)
c.*183A>T (n.*183A>T)
c.917A>T (p.Lys306Met)
n.281A>T
n.3514A>T
c.421A>T
c.896A>T (p.Lys299Met)
c.*585A>T (n.*585A>T)
c.1104A>T (n.1104A>T)
c.974A>T (p.Lys325Met)
c.923-2562A>T (n.923-2562A>T)
c.980A>T (p.Lys327Met)
c.1022A>T (p.Lys341Met)
c.563A>T (p.Lys188Met)
 ClinVar dbSNP
5g.162149169G>ACA447610267GABRG2c.985G>A
c.1104G>A (p.Lys368=)
c.1067G>A
n.238G>A
c.699G>A (p.Lys233=)
c.984G>A (p.Lys328=)
c.861G>A
c.375G>A (p.Lys125=)
c.912G>A (p.Lys304=)
c.*184G>A (n.*184G>A)
c.918G>A (p.Lys306=)
n.282G>A
n.3515G>A
c.422G>A
c.897G>A (p.Lys299=)
c.*586G>A (n.*586G>A)
c.1105G>A (n.1105G>A)
c.975G>A (p.Lys325=)
c.923-2561G>A (n.923-2561G>A)
c.981G>A (p.Lys327=)
c.1023G>A (p.Lys341=)
c.564G>A (p.Lys188=)
 COSMIC
5g.162149169G>CCA362182421GABRG2c.985G>C
c.1104G>C (p.Lys368Asn)
c.1067G>C
n.238G>C
c.699G>C (p.Lys233Asn)
c.984G>C (p.Lys328Asn)
c.861G>C
c.375G>C (p.Lys125Asn)
c.912G>C (p.Lys304Asn)
c.*184G>C (n.*184G>C)
c.918G>C (p.Lys306Asn)
n.282G>C
n.3515G>C
c.422G>C
c.897G>C (p.Lys299Asn)
c.*586G>C (n.*586G>C)
c.1105G>C (n.1105G>C)
c.975G>C (p.Lys325Asn)
c.923-2561G>C (n.923-2561G>C)
c.981G>C (p.Lys327Asn)
c.1023G>C (p.Lys341Asn)
c.564G>C (p.Lys188Asn)
 ClinVar
5g.162149169G>TCA362182422GABRG2c.985G>T
c.1104G>T (p.Lys368Asn)
c.1067G>T
n.238G>T
c.699G>T (p.Lys233Asn)
c.984G>T (p.Lys328Asn)
c.861G>T
c.375G>T (p.Lys125Asn)
c.912G>T (p.Lys304Asn)
c.*184G>T (n.*184G>T)
c.918G>T (p.Lys306Asn)
n.282G>T
n.3515G>T
c.422G>T
c.897G>T (p.Lys299Asn)
c.*586G>T (n.*586G>T)
c.1105G>T (n.1105G>T)
c.975G>T (p.Lys325Asn)
c.923-2561G>T (n.923-2561G>T)
c.981G>T (p.Lys327Asn)
c.1023G>T (p.Lys341Asn)
c.564G>T (p.Lys188Asn)
 COSMIC
5g.162149170G>ACA362182424GABRG2c.986G>A
c.1105G>A (p.Val369Ile)
c.1068G>A
n.239G>A
c.700G>A (p.Val234Ile)
c.985G>A (p.Val329Ile)
c.862G>A
c.376G>A (p.Val126Ile)
c.913G>A (p.Val305Ile)
c.*185G>A (n.*185G>A)
c.919G>A (p.Val307Ile)
n.283G>A
n.3516G>A
c.423G>A
c.898G>A (p.Val300Ile)
c.*587G>A (n.*587G>A)
c.1106G>A (n.1106G>A)
c.976G>A (p.Val326Ile)
c.923-2560G>A (n.923-2560G>A)
c.982G>A (p.Val328Ile)
c.1024G>A (p.Val342Ile)
c.565G>A (p.Val189Ile)
 gnomAD v4
5g.162149170G>CCA362182423GABRG2c.986G>C
c.1105G>C (p.Val369Leu)
c.1068G>C
n.239G>C
c.700G>C (p.Val234Leu)
c.985G>C (p.Val329Leu)
c.862G>C
c.376G>C (p.Val126Leu)
c.913G>C (p.Val305Leu)
c.*185G>C (n.*185G>C)
c.919G>C (p.Val307Leu)
n.283G>C
n.3516G>C
c.423G>C
c.898G>C (p.Val300Leu)
c.*587G>C (n.*587G>C)
c.1106G>C (n.1106G>C)
c.976G>C (p.Val326Leu)
c.923-2560G>C (n.923-2560G>C)
c.982G>C (p.Val328Leu)
c.1024G>C (p.Val342Leu)
c.565G>C (p.Val189Leu)
 gnomAD v4
5g.162149170G=CA1596380251GABRG2c.986G=
c.1105G= (p.Val369=)
c.1068G=
n.239G=
c.700G= (p.Val234=)
c.985G= (p.Val329=)
c.862G=
c.376G= (p.Val126=)
c.913G= (p.Val305=)
c.*185G= (n.*185G=)
c.919G= (p.Val307=)
n.283G=
n.3516G=
c.423G=
c.898G= (p.Val300=)
c.*587G= (n.*587G=)
c.1106G= (n.1106G=)
c.976G= (p.Val326=)
c.923-2560G= (n.923-2560G=)
c.982G= (p.Val328=)
c.1024G= (p.Val342=)
c.565G= (p.Val189=)
5g.162149170G>TCA314735GABRG2c.986G>T
c.1105G>T (p.Val369Phe)
c.1068G>T
n.239G>T
c.700G>T (p.Val234Phe)
c.985G>T (p.Val329Phe)
c.862G>T
c.376G>T (p.Val126Phe)
c.913G>T (p.Val305Phe)
c.*185G>T (n.*185G>T)
c.919G>T (p.Val307Phe)
n.283G>T
n.3516G>T
c.423G>T
c.898G>T (p.Val300Phe)
c.*587G>T (n.*587G>T)
c.1106G>T (n.1106G>T)
c.976G>T (p.Val326Phe)
c.923-2560G>T (n.923-2560G>T)
c.982G>T (p.Val328Phe)
c.1024G>T (p.Val342Phe)
c.565G>T (p.Val189Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.162149171T>ACA362182425GABRG2c.987T>A
c.1106T>A (p.Val369Asp)
c.1069T>A
n.240T>A
c.701T>A (p.Val234Asp)
c.986T>A (p.Val329Asp)
c.863T>A
c.377T>A (p.Val126Asp)
c.914T>A (p.Val305Asp)
c.*186T>A (n.*186T>A)
c.920T>A (p.Val307Asp)
n.284T>A
n.3517T>A
c.424T>A
c.899T>A (p.Val300Asp)
c.*588T>A (n.*588T>A)
c.1107T>A (n.1107T>A)
c.977T>A (p.Val326Asp)
c.923-2559T>A (n.923-2559T>A)
c.983T>A (p.Val328Asp)
c.1025T>A (p.Val342Asp)
c.566T>A (p.Val189Asp)
5g.162149171T>CCA362182427GABRG2c.987T>C
c.1106T>C (p.Val369Ala)
c.1069T>C
n.240T>C
c.701T>C (p.Val234Ala)
c.986T>C (p.Val329Ala)
c.863T>C
c.377T>C (p.Val126Ala)
c.914T>C (p.Val305Ala)
c.*186T>C (n.*186T>C)
c.920T>C (p.Val307Ala)
n.284T>C
n.3517T>C
c.424T>C
c.899T>C (p.Val300Ala)
c.*588T>C (n.*588T>C)
c.1107T>C (n.1107T>C)
c.977T>C (p.Val326Ala)
c.923-2559T>C (n.923-2559T>C)
c.983T>C (p.Val328Ala)
c.1025T>C (p.Val342Ala)
c.566T>C (p.Val189Ala)
5g.162149171T>GCA362182426GABRG2c.987T>G
c.1106T>G (p.Val369Gly)
c.1069T>G
n.240T>G
c.701T>G (p.Val234Gly)
c.986T>G (p.Val329Gly)
c.863T>G
c.377T>G (p.Val126Gly)
c.914T>G (p.Val305Gly)
c.*186T>G (n.*186T>G)
c.920T>G (p.Val307Gly)
n.284T>G
n.3517T>G
c.424T>G
c.899T>G (p.Val300Gly)
c.*588T>G (n.*588T>G)
c.1107T>G (n.1107T>G)
c.977T>G (p.Val326Gly)
c.923-2559T>G (n.923-2559T>G)
c.983T>G (p.Val328Gly)
c.1025T>G (p.Val342Gly)
c.566T>G (p.Val189Gly)
5g.162149172C>ACA3544863GABRG2c.988C>A
c.1107C>A (p.Val369=)
c.1070C>A
n.241C>A
c.702C>A (p.Val234=)
c.987C>A (p.Val329=)
c.864C>A
c.378C>A (p.Val126=)
c.915C>A (p.Val305=)
c.*187C>A (n.*187C>A)
c.921C>A (p.Val307=)
n.285C>A
n.3518C>A
c.425C>A
c.900C>A (p.Val300=)
c.*589C>A (n.*589C>A)
c.1108C>A (n.1108C>A)
c.978C>A (p.Val326=)
c.923-2558C>A (n.923-2558C>A)
c.984C>A (p.Val328=)
c.1026C>A (p.Val342=)
c.567C>A (p.Val189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149172C=CA1596380252GABRG2c.988C=
c.1107C= (p.Val369=)
c.1070C=
n.241C=
c.702C= (p.Val234=)
c.987C= (p.Val329=)
c.864C=
c.378C= (p.Val126=)
c.915C= (p.Val305=)
c.*187C= (n.*187C=)
c.921C= (p.Val307=)
n.285C=
n.3518C=
c.425C=
c.900C= (p.Val300=)
c.*589C= (n.*589C=)
c.1108C= (n.1108C=)
c.978C= (p.Val326=)
c.923-2558C= (n.923-2558C=)
c.984C= (p.Val328=)
c.1026C= (p.Val342=)
c.567C= (p.Val189=)
5g.162149172C>GCA447610268GABRG2c.988C>G
c.1107C>G (p.Val369=)
c.1070C>G
n.241C>G
c.702C>G (p.Val234=)
c.987C>G (p.Val329=)
c.864C>G
c.378C>G (p.Val126=)
c.915C>G (p.Val305=)
c.*187C>G (n.*187C>G)
c.921C>G (p.Val307=)
n.285C>G
n.3518C>G
c.425C>G
c.900C>G (p.Val300=)
c.*589C>G (n.*589C>G)
c.1108C>G (n.1108C>G)
c.978C>G (p.Val326=)
c.923-2558C>G (n.923-2558C>G)
c.984C>G (p.Val328=)
c.1026C>G (p.Val342=)
c.567C>G (p.Val189=)
5g.162149172C>TCA447610269GABRG2c.988C>T
c.1107C>T (p.Val369=)
c.1070C>T
n.241C>T
c.702C>T (p.Val234=)
c.987C>T (p.Val329=)
c.864C>T
c.378C>T (p.Val126=)
c.915C>T (p.Val305=)
c.*187C>T (n.*187C>T)
c.921C>T (p.Val307=)
n.285C>T
n.3518C>T
c.425C>T
c.900C>T (p.Val300=)
c.*589C>T (n.*589C>T)
c.1108C>T (n.1108C>T)
c.978C>T (p.Val326=)
c.923-2558C>T (n.923-2558C>T)
c.984C>T (p.Val328=)
c.1026C>T (p.Val342=)
c.567C>T (p.Val189=)
 COSMIC
5g.162149173T>ACA362182430GABRG2c.989T>A
c.1108T>A (p.Ser370Thr)
c.1071T>A
n.242T>A
c.703T>A (p.Ser235Thr)
c.988T>A (p.Ser330Thr)
c.865T>A
c.379T>A (p.Ser127Thr)
c.916T>A (p.Ser306Thr)
c.*188T>A (n.*188T>A)
c.922T>A (p.Ser308Thr)
n.286T>A
n.3519T>A
c.426T>A
c.901T>A (p.Ser301Thr)
c.*590T>A (n.*590T>A)
c.1109T>A (n.1109T>A)
c.979T>A (p.Ser327Thr)
c.923-2557T>A (n.923-2557T>A)
c.985T>A (p.Ser329Thr)
c.1027T>A (p.Ser343Thr)
c.568T>A (p.Ser190Thr)
 ClinVar gnomAD v4
5g.162149173T>CCA362182428GABRG2c.989T>C
c.1108T>C (p.Ser370Pro)
c.1071T>C
n.242T>C
c.703T>C (p.Ser235Pro)
c.988T>C (p.Ser330Pro)
c.865T>C
c.379T>C (p.Ser127Pro)
c.916T>C (p.Ser306Pro)
c.*188T>C (n.*188T>C)
c.922T>C (p.Ser308Pro)
n.286T>C
n.3519T>C
c.426T>C
c.901T>C (p.Ser301Pro)
c.*590T>C (n.*590T>C)
c.1109T>C (n.1109T>C)
c.979T>C (p.Ser327Pro)
c.923-2557T>C (n.923-2557T>C)
c.985T>C (p.Ser329Pro)
c.1027T>C (p.Ser343Pro)
c.568T>C (p.Ser190Pro)
5g.162149173T>GCA362182429GABRG2c.989T>G
c.1108T>G (p.Ser370Ala)
c.1071T>G
n.242T>G
c.703T>G (p.Ser235Ala)
c.988T>G (p.Ser330Ala)
c.865T>G
c.379T>G (p.Ser127Ala)
c.916T>G (p.Ser306Ala)
c.*188T>G (n.*188T>G)
c.922T>G (p.Ser308Ala)
n.286T>G
n.3519T>G
c.426T>G
c.901T>G (p.Ser301Ala)
c.*590T>G (n.*590T>G)
c.1109T>G (n.1109T>G)
c.979T>G (p.Ser327Ala)
c.923-2557T>G (n.923-2557T>G)
c.985T>G (p.Ser329Ala)
c.1027T>G (p.Ser343Ala)
c.568T>G (p.Ser190Ala)
5g.162149174C>ACA362182431GABRG2c.990C>A
c.1109C>A (p.Ser370Tyr)
c.1072C>A
n.243C>A
c.704C>A (p.Ser235Tyr)
c.989C>A (p.Ser330Tyr)
c.866C>A
c.380C>A (p.Ser127Tyr)
c.917C>A (p.Ser306Tyr)
c.*189C>A (n.*189C>A)
c.923C>A (p.Ser308Tyr)
n.287C>A
n.3520C>A
c.427C>A
c.902C>A (p.Ser301Tyr)
c.*591C>A (n.*591C>A)
c.1110C>A (n.1110C>A)
c.980C>A (p.Ser327Tyr)
c.923-2556C>A (n.923-2556C>A)
c.986C>A (p.Ser329Tyr)
c.1028C>A (p.Ser343Tyr)
c.569C>A (p.Ser190Tyr)
5g.162149174C>GCA362182432GABRG2c.990C>G
c.1109C>G (p.Ser370Cys)
c.1072C>G
n.243C>G
c.704C>G (p.Ser235Cys)
c.989C>G (p.Ser330Cys)
c.866C>G
c.380C>G (p.Ser127Cys)
c.917C>G (p.Ser306Cys)
c.*189C>G (n.*189C>G)
c.923C>G (p.Ser308Cys)
n.287C>G
n.3520C>G
c.427C>G
c.902C>G (p.Ser301Cys)
c.*591C>G (n.*591C>G)
c.1110C>G (n.1110C>G)
c.980C>G (p.Ser327Cys)
c.923-2556C>G (n.923-2556C>G)
c.986C>G (p.Ser329Cys)
c.1028C>G (p.Ser343Cys)
c.569C>G (p.Ser190Cys)
5g.162149174C>TCA362182433GABRG2c.990C>T
c.1109C>T (p.Ser370Phe)
c.1072C>T
n.243C>T
c.704C>T (p.Ser235Phe)
c.989C>T (p.Ser330Phe)
c.866C>T
c.380C>T (p.Ser127Phe)
c.917C>T (p.Ser306Phe)
c.*189C>T (n.*189C>T)
c.923C>T (p.Ser308Phe)
n.287C>T
n.3520C>T
c.427C>T
c.902C>T (p.Ser301Phe)
c.*591C>T (n.*591C>T)
c.1110C>T (n.1110C>T)
c.980C>T (p.Ser327Phe)
c.923-2556C>T (n.923-2556C>T)
c.986C>T (p.Ser329Phe)
c.1028C>T (p.Ser343Phe)
c.569C>T (p.Ser190Phe)
 COSMIC
5g.162149175C>ACA447610270GABRG2c.991C>A
c.1110C>A (p.Ser370=)
c.1073C>A
n.244C>A
c.705C>A (p.Ser235=)
c.990C>A (p.Ser330=)
c.867C>A
c.381C>A (p.Ser127=)
c.918C>A (p.Ser306=)
c.*190C>A (n.*190C>A)
c.924C>A (p.Ser308=)
n.288C>A
n.3521C>A
c.428C>A
c.903C>A (p.Ser301=)
c.*592C>A (n.*592C>A)
c.1111C>A (n.1111C>A)
c.981C>A (p.Ser327=)
c.923-2555C>A (n.923-2555C>A)
c.987C>A (p.Ser329=)
c.1029C>A (p.Ser343=)
c.570C>A (p.Ser190=)
5g.162149175C>GCA447610272GABRG2c.991C>G
c.1110C>G (p.Ser370=)
c.1073C>G
n.244C>G
c.705C>G (p.Ser235=)
c.990C>G (p.Ser330=)
c.867C>G
c.381C>G (p.Ser127=)
c.918C>G (p.Ser306=)
c.*190C>G (n.*190C>G)
c.924C>G (p.Ser308=)
n.288C>G
n.3521C>G
c.428C>G
c.903C>G (p.Ser301=)
c.*592C>G (n.*592C>G)
c.1111C>G (n.1111C>G)
c.981C>G (p.Ser327=)
c.923-2555C>G (n.923-2555C>G)
c.987C>G (p.Ser329=)
c.1029C>G (p.Ser343=)
c.570C>G (p.Ser190=)
5g.162149175C>TCA447610271GABRG2c.991C>T
c.1110C>T (p.Ser370=)
c.1073C>T
n.244C>T
c.705C>T (p.Ser235=)
c.990C>T (p.Ser330=)
c.867C>T
c.381C>T (p.Ser127=)
c.918C>T (p.Ser306=)
c.*190C>T (n.*190C>T)
c.924C>T (p.Ser308=)
n.288C>T
n.3521C>T
c.428C>T
c.903C>T (p.Ser301=)
c.*592C>T (n.*592C>T)
c.1111C>T (n.1111C>T)
c.981C>T (p.Ser327=)
c.923-2555C>T (n.923-2555C>T)
c.987C>T (p.Ser329=)
c.1029C>T (p.Ser343=)
c.570C>T (p.Ser190=)
 gnomAD v4
5g.162149176T>ACA362182434GABRG2c.992T>A
c.1111T>A (p.Tyr371Asn)
c.1074T>A
n.245T>A
c.706T>A (p.Tyr236Asn)
c.991T>A (p.Tyr331Asn)
c.868T>A
c.382T>A (p.Tyr128Asn)
c.919T>A (p.Tyr307Asn)
c.*191T>A (n.*191T>A)
c.925T>A (p.Tyr309Asn)
n.289T>A
n.3522T>A
c.429T>A
c.904T>A (p.Tyr302Asn)
c.*593T>A (n.*593T>A)
c.1112T>A (n.1112T>A)
c.982T>A (p.Tyr328Asn)
c.923-2554T>A (n.923-2554T>A)
c.988T>A (p.Tyr330Asn)
c.1030T>A (p.Tyr344Asn)
c.571T>A (p.Tyr191Asn)
 ClinVar
5g.162149176T>CCA362182435GABRG2c.992T>C
c.1111T>C (p.Tyr371His)
c.1074T>C
n.245T>C
c.706T>C (p.Tyr236His)
c.991T>C (p.Tyr331His)
c.868T>C
c.382T>C (p.Tyr128His)
c.919T>C (p.Tyr307His)
c.*191T>C (n.*191T>C)
c.925T>C (p.Tyr309His)
n.289T>C
n.3522T>C
c.429T>C
c.904T>C (p.Tyr302His)
c.*593T>C (n.*593T>C)
c.1112T>C (n.1112T>C)
c.982T>C (p.Tyr328His)
c.923-2554T>C (n.923-2554T>C)
c.988T>C (p.Tyr330His)
c.1030T>C (p.Tyr344His)
c.571T>C (p.Tyr191His)
 gnomAD v4
5g.162149176T>GCA362182436GABRG2c.992T>G
c.1111T>G (p.Tyr371Asp)
c.1074T>G
n.245T>G
c.706T>G (p.Tyr236Asp)
c.991T>G (p.Tyr331Asp)
c.868T>G
c.382T>G (p.Tyr128Asp)
c.919T>G (p.Tyr307Asp)
c.*191T>G (n.*191T>G)
c.925T>G (p.Tyr309Asp)
n.289T>G
n.3522T>G
c.429T>G
c.904T>G (p.Tyr302Asp)
c.*593T>G (n.*593T>G)
c.1112T>G (n.1112T>G)
c.982T>G (p.Tyr328Asp)
c.923-2554T>G (n.923-2554T>G)
c.988T>G (p.Tyr330Asp)
c.1030T>G (p.Tyr344Asp)
c.571T>G (p.Tyr191Asp)
5g.162149177A=CA1596380253GABRG2c.993A=
c.1112A= (p.Tyr371=)
c.1075A=
n.246A=
c.707A= (p.Tyr236=)
c.992A= (p.Tyr331=)
c.869A=
c.383A= (p.Tyr128=)
c.920A= (p.Tyr307=)
c.*192A= (n.*192A=)
c.926A= (p.Tyr309=)
n.290A=
n.3523A=
c.430A=
c.905A= (p.Tyr302=)
c.*594A= (n.*594A=)
c.1113A= (n.1113A=)
c.983A= (p.Tyr328=)
c.923-2553A= (n.923-2553A=)
c.989A= (p.Tyr330=)
c.1031A= (p.Tyr344=)
c.572A= (p.Tyr191=)
5g.162149177A>CCA362182437GABRG2c.993A>C
c.1112A>C (p.Tyr371Ser)
c.1075A>C
n.246A>C
c.707A>C (p.Tyr236Ser)
c.992A>C (p.Tyr331Ser)
c.869A>C
c.383A>C (p.Tyr128Ser)
c.920A>C (p.Tyr307Ser)
c.*192A>C (n.*192A>C)
c.926A>C (p.Tyr309Ser)
n.290A>C
n.3523A>C
c.430A>C
c.905A>C (p.Tyr302Ser)
c.*594A>C (n.*594A>C)
c.1113A>C (n.1113A>C)
c.983A>C (p.Tyr328Ser)
c.923-2553A>C (n.923-2553A>C)
c.989A>C (p.Tyr330Ser)
c.1031A>C (p.Tyr344Ser)
c.572A>C (p.Tyr191Ser)
5g.162149177A>GCA362182438GABRG2c.993A>G
c.1112A>G (p.Tyr371Cys)
c.1075A>G
n.246A>G
c.707A>G (p.Tyr236Cys)
c.992A>G (p.Tyr331Cys)
c.869A>G
c.383A>G (p.Tyr128Cys)
c.920A>G (p.Tyr307Cys)
c.*192A>G (n.*192A>G)
c.926A>G (p.Tyr309Cys)
n.290A>G
n.3523A>G
c.430A>G
c.905A>G (p.Tyr302Cys)
c.*594A>G (n.*594A>G)
c.1113A>G (n.1113A>G)
c.983A>G (p.Tyr328Cys)
c.923-2553A>G (n.923-2553A>G)
c.989A>G (p.Tyr330Cys)
c.1031A>G (p.Tyr344Cys)
c.572A>G (p.Tyr191Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.162149177A>TCA362182439GABRG2c.993A>T
c.1112A>T (p.Tyr371Phe)
c.1075A>T
n.246A>T
c.707A>T (p.Tyr236Phe)
c.992A>T (p.Tyr331Phe)
c.869A>T
c.383A>T (p.Tyr128Phe)
c.920A>T (p.Tyr307Phe)
c.*192A>T (n.*192A>T)
c.926A>T (p.Tyr309Phe)
n.290A>T
n.3523A>T
c.430A>T
c.905A>T (p.Tyr302Phe)
c.*594A>T (n.*594A>T)
c.1113A>T (n.1113A>T)
c.983A>T (p.Tyr328Phe)
c.923-2553A>T (n.923-2553A>T)
c.989A>T (p.Tyr330Phe)
c.1031A>T (p.Tyr344Phe)
c.572A>T (p.Tyr191Phe)
5g.162149178T>ACA362182440GABRG2c.994T>A
c.1113T>A (p.Tyr371Ter)
c.1076T>A
n.247T>A
c.708T>A (p.Tyr236Ter)
c.993T>A (p.Tyr331Ter)
c.870T>A
c.384T>A (p.Tyr128Ter)
c.921T>A (p.Tyr307Ter)
c.*193T>A (n.*193T>A)
c.927T>A (p.Tyr309Ter)
n.291T>A
n.3524T>A
c.431T>A
c.906T>A (p.Tyr302Ter)
c.*595T>A (n.*595T>A)
c.1114T>A (n.1114T>A)
c.984T>A (p.Tyr328Ter)
c.923-2552T>A (n.923-2552T>A)
c.990T>A (p.Tyr330Ter)
c.1032T>A (p.Tyr344Ter)
c.573T>A (p.Tyr191Ter)
5g.162149178T>CCA447610273GABRG2c.994T>C
c.1113T>C (p.Tyr371=)
c.1076T>C
n.247T>C
c.708T>C (p.Tyr236=)
c.993T>C (p.Tyr331=)
c.870T>C
c.384T>C (p.Tyr128=)
c.921T>C (p.Tyr307=)
c.*193T>C (n.*193T>C)
c.927T>C (p.Tyr309=)
n.291T>C
n.3524T>C
c.431T>C
c.906T>C (p.Tyr302=)
c.*595T>C (n.*595T>C)
c.1114T>C (n.1114T>C)
c.984T>C (p.Tyr328=)
c.923-2552T>C (n.923-2552T>C)
c.990T>C (p.Tyr330=)
c.1032T>C (p.Tyr344=)
c.573T>C (p.Tyr191=)
5g.162149178T>GCA362182441GABRG2c.994T>G
c.1113T>G (p.Tyr371Ter)
c.1076T>G
n.247T>G
c.708T>G (p.Tyr236Ter)
c.993T>G (p.Tyr331Ter)
c.870T>G
c.384T>G (p.Tyr128Ter)
c.921T>G (p.Tyr307Ter)
c.*193T>G (n.*193T>G)
c.927T>G (p.Tyr309Ter)
n.291T>G
n.3524T>G
c.431T>G
c.906T>G (p.Tyr302Ter)
c.*595T>G (n.*595T>G)
c.1114T>G (n.1114T>G)
c.984T>G (p.Tyr328Ter)
c.923-2552T>G (n.923-2552T>G)
c.990T>G (p.Tyr330Ter)
c.1032T>G (p.Tyr344Ter)
c.573T>G (p.Tyr191Ter)
5g.162149179G>ACA362182444GABRG2c.995G>A
c.1114G>A (p.Val372Ile)
c.1077G>A
n.248G>A
c.709G>A (p.Val237Ile)
c.994G>A (p.Val332Ile)
c.871G>A
c.385G>A (p.Val129Ile)
c.922G>A (p.Val308Ile)
c.*194G>A (n.*194G>A)
c.928G>A (p.Val310Ile)
n.292G>A
n.3525G>A
c.432G>A
c.907G>A (p.Val303Ile)
c.*596G>A (n.*596G>A)
c.1115G>A (n.1115G>A)
c.985G>A (p.Val329Ile)
c.923-2551G>A (n.923-2551G>A)
c.991G>A (p.Val331Ile)
c.1033G>A (p.Val345Ile)
c.574G>A (p.Val192Ile)
5g.162149179G>CCA362182443GABRG2c.995G>C
c.1114G>C (p.Val372Leu)
c.1077G>C
n.248G>C
c.709G>C (p.Val237Leu)
c.994G>C (p.Val332Leu)
c.871G>C
c.385G>C (p.Val129Leu)
c.922G>C (p.Val308Leu)
c.*194G>C (n.*194G>C)
c.928G>C (p.Val310Leu)
n.292G>C
n.3525G>C
c.432G>C
c.907G>C (p.Val303Leu)
c.*596G>C (n.*596G>C)
c.1115G>C (n.1115G>C)
c.985G>C (p.Val329Leu)
c.923-2551G>C (n.923-2551G>C)
c.991G>C (p.Val331Leu)
c.1033G>C (p.Val345Leu)
c.574G>C (p.Val192Leu)
5g.162149179G>TCA362182442GABRG2c.995G>T
c.1114G>T (p.Val372Phe)
c.1077G>T
n.248G>T
c.709G>T (p.Val237Phe)
c.994G>T (p.Val332Phe)
c.871G>T
c.385G>T (p.Val129Phe)
c.922G>T (p.Val308Phe)
c.*194G>T (n.*194G>T)
c.928G>T (p.Val310Phe)
n.292G>T
n.3525G>T
c.432G>T
c.907G>T (p.Val303Phe)
c.*596G>T (n.*596G>T)
c.1115G>T (n.1115G>T)
c.985G>T (p.Val329Phe)
c.923-2551G>T (n.923-2551G>T)
c.991G>T (p.Val331Phe)
c.1033G>T (p.Val345Phe)
c.574G>T (p.Val192Phe)
 COSMIC
5g.162149180T>ACA362182445GABRG2c.996T>A
c.1115T>A (p.Val372Asp)
c.1078T>A
n.249T>A
c.710T>A (p.Val237Asp)
c.995T>A (p.Val332Asp)
c.872T>A
c.386T>A (p.Val129Asp)
c.923T>A (p.Val308Asp)
c.*195T>A (n.*195T>A)
c.929T>A (p.Val310Asp)
n.293T>A
n.3526T>A
c.433T>A
c.908T>A (p.Val303Asp)
c.*597T>A (n.*597T>A)
c.1116T>A (n.1116T>A)
c.986T>A (p.Val329Asp)
c.923-2550T>A (n.923-2550T>A)
c.992T>A (p.Val331Asp)
c.1034T>A (p.Val345Asp)
c.575T>A (p.Val192Asp)
5g.162149180T>CCA362182446GABRG2c.996T>C
c.1115T>C (p.Val372Ala)
c.1078T>C
n.249T>C
c.710T>C (p.Val237Ala)
c.995T>C (p.Val332Ala)
c.872T>C
c.386T>C (p.Val129Ala)
c.923T>C (p.Val308Ala)
c.*195T>C (n.*195T>C)
c.929T>C (p.Val310Ala)
n.293T>C
n.3526T>C
c.433T>C
c.908T>C (p.Val303Ala)
c.*597T>C (n.*597T>C)
c.1116T>C (n.1116T>C)
c.986T>C (p.Val329Ala)
c.923-2550T>C (n.923-2550T>C)
c.992T>C (p.Val331Ala)
c.1034T>C (p.Val345Ala)
c.575T>C (p.Val192Ala)
5g.162149180T>GCA362182447GABRG2c.996T>G
c.1115T>G (p.Val372Gly)
c.1078T>G
n.249T>G
c.710T>G (p.Val237Gly)
c.995T>G (p.Val332Gly)
c.872T>G
c.386T>G (p.Val129Gly)
c.923T>G (p.Val308Gly)
c.*195T>G (n.*195T>G)
c.929T>G (p.Val310Gly)
n.293T>G
n.3526T>G
c.433T>G
c.908T>G (p.Val303Gly)
c.*597T>G (n.*597T>G)
c.1116T>G (n.1116T>G)
c.986T>G (p.Val329Gly)
c.923-2550T>G (n.923-2550T>G)
c.992T>G (p.Val331Gly)
c.1034T>G (p.Val345Gly)
c.575T>G (p.Val192Gly)
5g.162149181C>ACA447610274GABRG2c.997C>A
c.1116C>A (p.Val372=)
c.1079C>A
n.250C>A
c.711C>A (p.Val237=)
c.996C>A (p.Val332=)
c.873C>A
c.387C>A (p.Val129=)
c.924C>A (p.Val308=)
c.*196C>A (n.*196C>A)
c.930C>A (p.Val310=)
n.294C>A
n.3527C>A
c.434C>A
c.909C>A (p.Val303=)
c.*598C>A (n.*598C>A)
c.1117C>A (n.1117C>A)
c.987C>A (p.Val329=)
c.923-2549C>A (n.923-2549C>A)
c.993C>A (p.Val331=)
c.1035C>A (p.Val345=)
c.576C>A (p.Val192=)
5g.162149181C=CA1596380254GABRG2c.997C=
c.1116C= (p.Val372=)
c.1079C=
n.250C=
c.711C= (p.Val237=)
c.996C= (p.Val332=)
c.873C=
c.387C= (p.Val129=)
c.924C= (p.Val308=)
c.*196C= (n.*196C=)
c.930C= (p.Val310=)
n.294C=
n.3527C=
c.434C=
c.909C= (p.Val303=)
c.*598C= (n.*598C=)
c.1117C= (n.1117C=)
c.987C= (p.Val329=)
c.923-2549C= (n.923-2549C=)
c.993C= (p.Val331=)
c.1035C= (p.Val345=)
c.576C= (p.Val192=)
5g.162149181C>GCA447610275GABRG2c.997C>G
c.1116C>G (p.Val372=)
c.1079C>G
n.250C>G
c.711C>G (p.Val237=)
c.996C>G (p.Val332=)
c.873C>G
c.387C>G (p.Val129=)
c.924C>G (p.Val308=)
c.*196C>G (n.*196C>G)
c.930C>G (p.Val310=)
n.294C>G
n.3527C>G
c.434C>G
c.909C>G (p.Val303=)
c.*598C>G (n.*598C>G)
c.1117C>G (n.1117C>G)
c.987C>G (p.Val329=)
c.923-2549C>G (n.923-2549C>G)
c.993C>G (p.Val331=)
c.1035C>G (p.Val345=)
c.576C>G (p.Val192=)
5g.162149181C>TCA131117318GABRG2c.997C>T
c.1116C>T (p.Val372=)
c.1079C>T
n.250C>T
c.711C>T (p.Val237=)
c.996C>T (p.Val332=)
c.873C>T
c.387C>T (p.Val129=)
c.924C>T (p.Val308=)
c.*196C>T (n.*196C>T)
c.930C>T (p.Val310=)
n.294C>T
n.3527C>T
c.434C>T
c.909C>T (p.Val303=)
c.*598C>T (n.*598C>T)
c.1117C>T (n.1117C>T)
c.987C>T (p.Val329=)
c.923-2549C>T (n.923-2549C>T)
c.993C>T (p.Val331=)
c.1035C>T (p.Val345=)
c.576C>T (p.Val192=)
 ClinVar dbSNP gnomAD v4
5g.162149182A>CCA362182448GABRG2c.998A>C
c.1117A>C (p.Thr373Pro)
c.1080A>C
n.251A>C
c.712A>C (p.Thr238Pro)
c.997A>C (p.Thr333Pro)
c.874A>C
c.388A>C (p.Thr130Pro)
c.925A>C (p.Thr309Pro)
c.*197A>C (n.*197A>C)
c.931A>C (p.Thr311Pro)
n.295A>C
n.3528A>C
c.435A>C
c.910A>C (p.Thr304Pro)
c.*599A>C (n.*599A>C)
c.1118A>C (n.1118A>C)
c.988A>C (p.Thr330Pro)
c.923-2548A>C (n.923-2548A>C)
c.994A>C (p.Thr332Pro)
c.1036A>C (p.Thr346Pro)
c.577A>C (p.Thr193Pro)
5g.162149182A>GCA362182449GABRG2c.998A>G
c.1117A>G (p.Thr373Ala)
c.1080A>G
n.251A>G
c.712A>G (p.Thr238Ala)
c.997A>G (p.Thr333Ala)
c.874A>G
c.388A>G (p.Thr130Ala)
c.925A>G (p.Thr309Ala)
c.*197A>G (n.*197A>G)
c.931A>G (p.Thr311Ala)
n.295A>G
n.3528A>G
c.435A>G
c.910A>G (p.Thr304Ala)
c.*599A>G (n.*599A>G)
c.1118A>G (n.1118A>G)
c.988A>G (p.Thr330Ala)
c.923-2548A>G (n.923-2548A>G)
c.994A>G (p.Thr332Ala)
c.1036A>G (p.Thr346Ala)
c.577A>G (p.Thr193Ala)
5g.162149182A>TCA362182450GABRG2c.998A>T
c.1117A>T (p.Thr373Ser)
c.1080A>T
n.251A>T
c.712A>T (p.Thr238Ser)
c.997A>T (p.Thr333Ser)
c.874A>T
c.388A>T (p.Thr130Ser)
c.925A>T (p.Thr309Ser)
c.*197A>T (n.*197A>T)
c.931A>T (p.Thr311Ser)
n.295A>T
n.3528A>T
c.435A>T
c.910A>T (p.Thr304Ser)
c.*599A>T (n.*599A>T)
c.1118A>T (n.1118A>T)
c.988A>T (p.Thr330Ser)
c.923-2548A>T (n.923-2548A>T)
c.994A>T (p.Thr332Ser)
c.1036A>T (p.Thr346Ser)
c.577A>T (p.Thr193Ser)
5g.162149183C>ACA362182451GABRG2c.999C>A
c.1118C>A (p.Thr373Lys)
c.1081C>A
n.252C>A
c.713C>A (p.Thr238Lys)
c.998C>A (p.Thr333Lys)
c.875C>A
c.389C>A (p.Thr130Lys)
c.926C>A (p.Thr309Lys)
c.*198C>A (n.*198C>A)
c.932C>A (p.Thr311Lys)
n.296C>A
n.3529C>A
c.436C>A
c.911C>A (p.Thr304Lys)
c.*600C>A (n.*600C>A)
c.1119C>A (n.1119C>A)
c.989C>A (p.Thr330Lys)
c.923-2547C>A (n.923-2547C>A)
c.995C>A (p.Thr332Lys)
c.1037C>A (p.Thr346Lys)
c.578C>A (p.Thr193Lys)
5g.162149183C>GCA362182452GABRG2c.999C>G
c.1118C>G (p.Thr373Arg)
c.1081C>G
n.252C>G
c.713C>G (p.Thr238Arg)
c.998C>G (p.Thr333Arg)
c.875C>G
c.389C>G (p.Thr130Arg)
c.926C>G (p.Thr309Arg)
c.*198C>G (n.*198C>G)
c.932C>G (p.Thr311Arg)
n.296C>G
n.3529C>G
c.436C>G
c.911C>G (p.Thr304Arg)
c.*600C>G (n.*600C>G)
c.1119C>G (n.1119C>G)
c.989C>G (p.Thr330Arg)
c.923-2547C>G (n.923-2547C>G)
c.995C>G (p.Thr332Arg)
c.1037C>G (p.Thr346Arg)
c.578C>G (p.Thr193Arg)
5g.162149183C>TCA362182453GABRG2c.999C>T
c.1118C>T (p.Thr373Ile)
c.1081C>T
n.252C>T
c.713C>T (p.Thr238Ile)
c.998C>T (p.Thr333Ile)
c.875C>T
c.389C>T (p.Thr130Ile)
c.926C>T (p.Thr309Ile)
c.*198C>T (n.*198C>T)
c.932C>T (p.Thr311Ile)
n.296C>T
n.3529C>T
c.436C>T
c.911C>T (p.Thr304Ile)
c.*600C>T (n.*600C>T)
c.1119C>T (n.1119C>T)
c.989C>T (p.Thr330Ile)
c.923-2547C>T (n.923-2547C>T)
c.995C>T (p.Thr332Ile)
c.1037C>T (p.Thr346Ile)
c.578C>T (p.Thr193Ile)
 COSMIC
5g.162149184A=CA1596380255GABRG2c.1000A=
c.1119A= (p.Thr373=)
c.1082A=
n.253A=
c.714A= (p.Thr238=)
c.999A= (p.Thr333=)
c.876A=
c.390A= (p.Thr130=)
c.927A= (p.Thr309=)
c.*199A= (n.*199A=)
c.933A= (p.Thr311=)
n.297A=
n.3530A=
c.437A=
c.912A= (p.Thr304=)
c.*601A= (n.*601A=)
c.1120A= (n.1120A=)
c.990A= (p.Thr330=)
c.923-2546A= (n.923-2546A=)
c.996A= (p.Thr332=)
c.1038A= (p.Thr346=)
c.579A= (p.Thr193=)
5g.162149184A>CCA447610276GABRG2c.1000A>C
c.1119A>C (p.Thr373=)
c.1082A>C
n.253A>C
c.714A>C (p.Thr238=)
c.999A>C (p.Thr333=)
c.876A>C
c.390A>C (p.Thr130=)
c.927A>C (p.Thr309=)
c.*199A>C (n.*199A>C)
c.933A>C (p.Thr311=)
n.297A>C
n.3530A>C
c.437A>C
c.912A>C (p.Thr304=)
c.*601A>C (n.*601A>C)
c.1120A>C (n.1120A>C)
c.990A>C (p.Thr330=)
c.923-2546A>C (n.923-2546A>C)
c.996A>C (p.Thr332=)
c.1038A>C (p.Thr346=)
c.579A>C (p.Thr193=)
5g.162149184A>GCA447610277GABRG2c.1000A>G
c.1119A>G (p.Thr373=)
c.1082A>G
n.253A>G
c.714A>G (p.Thr238=)
c.999A>G (p.Thr333=)
c.876A>G
c.390A>G (p.Thr130=)
c.927A>G (p.Thr309=)
c.*199A>G (n.*199A>G)
c.933A>G (p.Thr311=)
n.297A>G
n.3530A>G
c.437A>G
c.912A>G (p.Thr304=)
c.*601A>G (n.*601A>G)
c.1120A>G (n.1120A>G)
c.990A>G (p.Thr330=)
c.923-2546A>G (n.923-2546A>G)
c.996A>G (p.Thr332=)
c.1038A>G (p.Thr346=)
c.579A>G (p.Thr193=)
5g.162149184A>TCA3544864GABRG2c.1000A>T
c.1119A>T (p.Thr373=)
c.1082A>T
n.253A>T
c.714A>T (p.Thr238=)
c.999A>T (p.Thr333=)
c.876A>T
c.390A>T (p.Thr130=)
c.927A>T (p.Thr309=)
c.*199A>T (n.*199A>T)
c.933A>T (p.Thr311=)
n.297A>T
n.3530A>T
c.437A>T
c.912A>T (p.Thr304=)
c.*601A>T (n.*601A>T)
c.1120A>T (n.1120A>T)
c.990A>T (p.Thr330=)
c.923-2546A>T (n.923-2546A>T)
c.996A>T (p.Thr332=)
c.1038A>T (p.Thr346=)
c.579A>T (p.Thr193=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149185G>ACA221363GABRG2c.1001G>A
c.1120G>A (p.Ala374Thr)
c.1083G>A
n.254G>A
c.715G>A (p.Ala239Thr)
c.1000G>A (p.Ala334Thr)
c.877G>A
c.391G>A (p.Ala131Thr)
c.928G>A (p.Ala310Thr)
c.*200G>A (n.*200G>A)
c.934G>A (p.Ala312Thr)
n.298G>A
n.3531G>A
c.438G>A
c.913G>A (p.Ala305Thr)
c.*602G>A (n.*602G>A)
c.1121G>A (n.1121G>A)
c.991G>A (p.Ala331Thr)
c.923-2545G>A (n.923-2545G>A)
c.997G>A (p.Ala333Thr)
c.1039G>A (p.Ala347Thr)
c.580G>A (p.Ala194Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162149185G>CCA362182454GABRG2c.1001G>C
c.1120G>C (p.Ala374Pro)
c.1083G>C
n.254G>C
c.715G>C (p.Ala239Pro)
c.1000G>C (p.Ala334Pro)
c.877G>C
c.391G>C (p.Ala131Pro)
c.928G>C (p.Ala310Pro)
c.*200G>C (n.*200G>C)
c.934G>C (p.Ala312Pro)
n.298G>C
n.3531G>C
c.438G>C
c.913G>C (p.Ala305Pro)
c.*602G>C (n.*602G>C)
c.1121G>C (n.1121G>C)
c.991G>C (p.Ala331Pro)
c.923-2545G>C (n.923-2545G>C)
c.997G>C (p.Ala333Pro)
c.1039G>C (p.Ala347Pro)
c.580G>C (p.Ala194Pro)
5g.162149185G=CA1596380256GABRG2c.1001G=
c.1120G= (p.Ala374=)
c.1083G=
n.254G=
c.715G= (p.Ala239=)
c.1000G= (p.Ala334=)
c.877G=
c.391G= (p.Ala131=)
c.928G= (p.Ala310=)
c.*200G= (n.*200G=)
c.934G= (p.Ala312=)
n.298G=
n.3531G=
c.438G=
c.913G= (p.Ala305=)
c.*602G= (n.*602G=)
c.1121G= (n.1121G=)
c.991G= (p.Ala331=)
c.923-2545G= (n.923-2545G=)
c.997G= (p.Ala333=)
c.1039G= (p.Ala347=)
c.580G= (p.Ala194=)
5g.162149185G>TCA362182455GABRG2c.1001G>T
c.1120G>T (p.Ala374Ser)
c.1083G>T
n.254G>T
c.715G>T (p.Ala239Ser)
c.1000G>T (p.Ala334Ser)
c.877G>T
c.391G>T (p.Ala131Ser)
c.928G>T (p.Ala310Ser)
c.*200G>T (n.*200G>T)
c.934G>T (p.Ala312Ser)
n.298G>T
n.3531G>T
c.438G>T
c.913G>T (p.Ala305Ser)
c.*602G>T (n.*602G>T)
c.1121G>T (n.1121G>T)
c.991G>T (p.Ala331Ser)
c.923-2545G>T (n.923-2545G>T)
c.997G>T (p.Ala333Ser)
c.1039G>T (p.Ala347Ser)
c.580G>T (p.Ala194Ser)
5g.162149186C>ACA362182457GABRG2c.1002C>A
c.1121C>A (p.Ala374Glu)
c.1084C>A
n.255C>A
c.716C>A (p.Ala239Glu)
c.1001C>A (p.Ala334Glu)
c.878C>A
c.392C>A (p.Ala131Glu)
c.929C>A (p.Ala310Glu)
c.*201C>A (n.*201C>A)
c.935C>A (p.Ala312Glu)
n.299C>A
n.3532C>A
c.439C>A
c.914C>A (p.Ala305Glu)
c.*603C>A (n.*603C>A)
c.1122C>A (n.1122C>A)
c.992C>A (p.Ala331Glu)
c.923-2544C>A (n.923-2544C>A)
c.998C>A (p.Ala333Glu)
c.1040C>A (p.Ala347Glu)
c.581C>A (p.Ala194Glu)
5g.162149186C=CA1596380257GABRG2c.1002C=
c.1121C= (p.Ala374=)
c.1084C=
n.255C=
c.716C= (p.Ala239=)
c.1001C= (p.Ala334=)
c.878C=
c.392C= (p.Ala131=)
c.929C= (p.Ala310=)
c.*201C= (n.*201C=)
c.935C= (p.Ala312=)
n.299C=
n.3532C=
c.439C=
c.914C= (p.Ala305=)
c.*603C= (n.*603C=)
c.1122C= (n.1122C=)
c.992C= (p.Ala331=)
c.923-2544C= (n.923-2544C=)
c.998C= (p.Ala333=)
c.1040C= (p.Ala347=)
c.581C= (p.Ala194=)
5g.162149186C>GCA362182458GABRG2c.1002C>G
c.1121C>G (p.Ala374Gly)
c.1084C>G
n.255C>G
c.716C>G (p.Ala239Gly)
c.1001C>G (p.Ala334Gly)
c.878C>G
c.392C>G (p.Ala131Gly)
c.929C>G (p.Ala310Gly)
c.*201C>G (n.*201C>G)
c.935C>G (p.Ala312Gly)
n.299C>G
n.3532C>G
c.439C>G
c.914C>G (p.Ala305Gly)
c.*603C>G (n.*603C>G)
c.1122C>G (n.1122C>G)
c.992C>G (p.Ala331Gly)
c.923-2544C>G (n.923-2544C>G)
c.998C>G (p.Ala333Gly)
c.1040C>G (p.Ala347Gly)
c.581C>G (p.Ala194Gly)
 gnomAD v4
5g.162149186C>TCA362182456GABRG2c.1002C>T
c.1121C>T (p.Ala374Val)
c.1084C>T
n.255C>T
c.716C>T (p.Ala239Val)
c.1001C>T (p.Ala334Val)
c.878C>T
c.392C>T (p.Ala131Val)
c.929C>T (p.Ala310Val)
c.*201C>T (n.*201C>T)
c.935C>T (p.Ala312Val)
n.299C>T
n.3532C>T
c.439C>T
c.914C>T (p.Ala305Val)
c.*603C>T (n.*603C>T)
c.1122C>T (n.1122C>T)
c.992C>T (p.Ala331Val)
c.923-2544C>T (n.923-2544C>T)
c.998C>T (p.Ala333Val)
c.1040C>T (p.Ala347Val)
c.581C>T (p.Ala194Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.162149187G>ACA3544865GABRG2c.1003G>A
c.1122G>A (p.Ala374=)
c.1085G>A
n.256G>A
c.717G>A (p.Ala239=)
c.1002G>A (p.Ala334=)
c.879G>A
c.393G>A (p.Ala131=)
c.930G>A (p.Ala310=)
c.*202G>A (n.*202G>A)
c.936G>A (p.Ala312=)
n.300G>A
n.3533G>A
c.440G>A
c.915G>A (p.Ala305=)
c.*604G>A (n.*604G>A)
c.1123G>A (n.1123G>A)
c.993G>A (p.Ala331=)
c.923-2543G>A (n.923-2543G>A)
c.999G>A (p.Ala333=)
c.1041G>A (p.Ala347=)
c.582G>A (p.Ala194=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.162149187G>CCA131117319GABRG2c.1003G>C
c.1122G>C (p.Ala374=)
c.1085G>C
n.256G>C
c.717G>C (p.Ala239=)
c.1002G>C (p.Ala334=)
c.879G>C
c.393G>C (p.Ala131=)
c.930G>C (p.Ala310=)
c.*202G>C (n.*202G>C)
c.936G>C (p.Ala312=)
n.300G>C
n.3533G>C
c.440G>C
c.915G>C (p.Ala305=)
c.*604G>C (n.*604G>C)
c.1123G>C (n.1123G>C)
c.993G>C (p.Ala331=)
c.923-2543G>C (n.923-2543G>C)
c.999G>C (p.Ala333=)
c.1041G>C (p.Ala347=)
c.582G>C (p.Ala194=)
 dbSNP
5g.162149187G=CA1596380258GABRG2c.1003G=
c.1122G= (p.Ala374=)
c.1085G=
n.256G=
c.717G= (p.Ala239=)
c.1002G= (p.Ala334=)
c.879G=
c.393G= (p.Ala131=)
c.930G= (p.Ala310=)
c.*202G= (n.*202G=)
c.936G= (p.Ala312=)
n.300G=
n.3533G=
c.440G=
c.915G= (p.Ala305=)
c.*604G= (n.*604G=)
c.1123G= (n.1123G=)
c.993G= (p.Ala331=)
c.923-2543G= (n.923-2543G=)
c.999G= (p.Ala333=)
c.1041G= (p.Ala347=)
c.582G= (p.Ala194=)
5g.162149187G>TCA447610278GABRG2c.1003G>T
c.1122G>T (p.Ala374=)
c.1085G>T
n.256G>T
c.717G>T (p.Ala239=)
c.1002G>T (p.Ala334=)
c.879G>T
c.393G>T (p.Ala131=)
c.930G>T (p.Ala310=)
c.*202G>T (n.*202G>T)
c.936G>T (p.Ala312=)
n.300G>T
n.3533G>T
c.440G>T
c.915G>T (p.Ala305=)
c.*604G>T (n.*604G>T)
c.1123G>T (n.1123G>T)
c.993G>T (p.Ala331=)
c.923-2543G>T (n.923-2543G>T)
c.999G>T (p.Ala333=)
c.1041G>T (p.Ala347=)
c.582G>T (p.Ala194=)
5g.162149188A>CCA362182459GABRG2c.1004A>C
c.1123A>C (p.Met375Leu)
c.1086A>C
n.257A>C
c.718A>C (p.Met240Leu)
c.1003A>C (p.Met335Leu)
c.880A>C
c.394A>C (p.Met132Leu)
c.931A>C (p.Met311Leu)
c.*203A>C (n.*203A>C)
c.937A>C (p.Met313Leu)
n.301A>C
n.3534A>C
c.441A>C
c.916A>C (p.Met306Leu)
c.*605A>C (n.*605A>C)
c.1124A>C (n.1124A>C)
c.994A>C (p.Met332Leu)
c.923-2542A>C (n.923-2542A>C)
c.1000A>C (p.Met334Leu)
c.1042A>C (p.Met348Leu)
c.583A>C (p.Met195Leu)
5g.162149188A>GCA362182460GABRG2c.1004A>G
c.1123A>G (p.Met375Val)
c.1086A>G
n.257A>G
c.718A>G (p.Met240Val)
c.1003A>G (p.Met335Val)
c.880A>G
c.394A>G (p.Met132Val)
c.931A>G (p.Met311Val)
c.*203A>G (n.*203A>G)
c.937A>G (p.Met313Val)
n.301A>G
n.3534A>G
c.441A>G
c.916A>G (p.Met306Val)
c.*605A>G (n.*605A>G)
c.1124A>G (n.1124A>G)
c.994A>G (p.Met332Val)
c.923-2542A>G (n.923-2542A>G)
c.1000A>G (p.Met334Val)
c.1042A>G (p.Met348Val)
c.583A>G (p.Met195Val)
5g.162149188A>TCA362182461GABRG2c.1004A>T
c.1123A>T (p.Met375Leu)
c.1086A>T
n.257A>T
c.718A>T (p.Met240Leu)
c.1003A>T (p.Met335Leu)
c.880A>T
c.394A>T (p.Met132Leu)
c.931A>T (p.Met311Leu)
c.*203A>T (n.*203A>T)
c.937A>T (p.Met313Leu)
n.301A>T
n.3534A>T
c.441A>T
c.916A>T (p.Met306Leu)
c.*605A>T (n.*605A>T)
c.1124A>T (n.1124A>T)
c.994A>T (p.Met332Leu)
c.923-2542A>T (n.923-2542A>T)
c.1000A>T (p.Met334Leu)
c.1042A>T (p.Met348Leu)
c.583A>T (p.Met195Leu)
5g.162149189T>ACA362182462GABRG2c.1005T>A
c.1124T>A (p.Met375Lys)
c.1087T>A
n.258T>A
c.719T>A (p.Met240Lys)
c.1004T>A (p.Met335Lys)
c.881T>A
c.395T>A (p.Met132Lys)
c.932T>A (p.Met311Lys)
c.*204T>A (n.*204T>A)
c.938T>A (p.Met313Lys)
n.302T>A
n.3535T>A
c.442T>A
c.917T>A (p.Met306Lys)
c.*606T>A (n.*606T>A)
c.1125T>A (n.1125T>A)
c.995T>A (p.Met332Lys)
c.923-2541T>A (n.923-2541T>A)
c.1001T>A (p.Met334Lys)
c.1043T>A (p.Met348Lys)
c.584T>A (p.Met195Lys)
5g.162149189T>CCA362182463GABRG2c.1005T>C
c.1124T>C (p.Met375Thr)
c.1087T>C
n.258T>C
c.719T>C (p.Met240Thr)
c.1004T>C (p.Met335Thr)
c.881T>C
c.395T>C (p.Met132Thr)
c.932T>C (p.Met311Thr)
c.*204T>C (n.*204T>C)
c.938T>C (p.Met313Thr)
n.302T>C
n.3535T>C
c.442T>C
c.917T>C (p.Met306Thr)
c.*606T>C (n.*606T>C)
c.1125T>C (n.1125T>C)
c.995T>C (p.Met332Thr)
c.923-2541T>C (n.923-2541T>C)
c.1001T>C (p.Met334Thr)
c.1043T>C (p.Met348Thr)
c.584T>C (p.Met195Thr)
5g.162149189T>GCA362182464GABRG2c.1005T>G
c.1124T>G (p.Met375Arg)
c.1087T>G
n.258T>G
c.719T>G (p.Met240Arg)
c.1004T>G (p.Met335Arg)
c.881T>G
c.395T>G (p.Met132Arg)
c.932T>G (p.Met311Arg)
c.*204T>G (n.*204T>G)
c.938T>G (p.Met313Arg)
n.302T>G
n.3535T>G
c.442T>G
c.917T>G (p.Met306Arg)
c.*606T>G (n.*606T>G)
c.1125T>G (n.1125T>G)
c.995T>G (p.Met332Arg)
c.923-2541T>G (n.923-2541T>G)
c.1001T>G (p.Met334Arg)
c.1043T>G (p.Met348Arg)
c.584T>G (p.Met195Arg)
5g.162149190G>ACA362182465GABRG2c.1006G>A
c.1125G>A (p.Met375Ile)
c.1088G>A
n.259G>A
c.720G>A (p.Met240Ile)
c.1005G>A (p.Met335Ile)
c.882G>A
c.396G>A (p.Met132Ile)
c.933G>A (p.Met311Ile)
c.*205G>A (n.*205G>A)
c.939G>A (p.Met313Ile)
n.303G>A
n.3536G>A
c.443G>A
c.918G>A (p.Met306Ile)
c.*607G>A (n.*607G>A)
c.1126G>A (n.1126G>A)
c.996G>A (p.Met332Ile)
c.923-2540G>A (n.923-2540G>A)
c.1002G>A (p.Met334Ile)
c.1044G>A (p.Met348Ile)
c.585G>A (p.Met195Ile)
 gnomAD v4
5g.162149190G>CCA362182466GABRG2c.1006G>C
c.1125G>C (p.Met375Ile)
c.1088G>C
n.259G>C
c.720G>C (p.Met240Ile)
c.1005G>C (p.Met335Ile)
c.882G>C
c.396G>C (p.Met132Ile)
c.933G>C (p.Met311Ile)
c.*205G>C (n.*205G>C)
c.939G>C (p.Met313Ile)
n.303G>C
n.3536G>C
c.443G>C
c.918G>C (p.Met306Ile)
c.*607G>C (n.*607G>C)
c.1126G>C (n.1126G>C)
c.996G>C (p.Met332Ile)
c.923-2540G>C (n.923-2540G>C)
c.1002G>C (p.Met334Ile)
c.1044G>C (p.Met348Ile)
c.585G>C (p.Met195Ile)
5g.162149190G>TCA362182467GABRG2c.1006G>T
c.1125G>T (p.Met375Ile)
c.1088G>T
n.259G>T
c.720G>T (p.Met240Ile)
c.1005G>T (p.Met335Ile)
c.882G>T
c.396G>T (p.Met132Ile)
c.933G>T (p.Met311Ile)
c.*205G>T (n.*205G>T)
c.939G>T (p.Met313Ile)
n.303G>T
n.3536G>T
c.443G>T
c.918G>T (p.Met306Ile)
c.*607G>T (n.*607G>T)
c.1126G>T (n.1126G>T)
c.996G>T (p.Met332Ile)
c.923-2540G>T (n.923-2540G>T)
c.1002G>T (p.Met334Ile)
c.1044G>T (p.Met348Ile)
c.585G>T (p.Met195Ile)
5g.162149191G>ACA362182468GABRG2c.1007G>A
c.1126G>A (p.Asp376Asn)
c.1089G>A
n.260G>A
c.721G>A (p.Asp241Asn)
c.1006G>A (p.Asp336Asn)
c.883G>A
c.397G>A (p.Asp133Asn)
c.934G>A (p.Asp312Asn)
c.*206G>A (n.*206G>A)
c.940G>A (p.Asp314Asn)
n.304G>A
n.3537G>A
c.444G>A
c.919G>A (p.Asp307Asn)
c.*608G>A (n.*608G>A)
c.1127G>A (n.1127G>A)
c.997G>A (p.Asp333Asn)
c.923-2539G>A (n.923-2539G>A)
c.1003G>A (p.Asp335Asn)
c.1045G>A (p.Asp349Asn)
c.586G>A (p.Asp196Asn)
 COSMIC
5g.162149191G>CCA362182469GABRG2c.1007G>C
c.1126G>C (p.Asp376His)
c.1089G>C
n.260G>C
c.721G>C (p.Asp241His)
c.1006G>C (p.Asp336His)
c.883G>C
c.397G>C (p.Asp133His)
c.934G>C (p.Asp312His)
c.*206G>C (n.*206G>C)
c.940G>C (p.Asp314His)
n.304G>C
n.3537G>C
c.444G>C
c.919G>C (p.Asp307His)
c.*608G>C (n.*608G>C)
c.1127G>C (n.1127G>C)
c.997G>C (p.Asp333His)
c.923-2539G>C (n.923-2539G>C)
c.1003G>C (p.Asp335His)
c.1045G>C (p.Asp349His)
c.586G>C (p.Asp196His)
5g.162149191G>TCA362182470GABRG2c.1007G>T
c.1126G>T (p.Asp376Tyr)
c.1089G>T
n.260G>T
c.721G>T (p.Asp241Tyr)
c.1006G>T (p.Asp336Tyr)
c.883G>T
c.397G>T (p.Asp133Tyr)
c.934G>T (p.Asp312Tyr)
c.*206G>T (n.*206G>T)
c.940G>T (p.Asp314Tyr)
n.304G>T
n.3537G>T
c.444G>T
c.919G>T (p.Asp307Tyr)
c.*608G>T (n.*608G>T)
c.1127G>T (n.1127G>T)
c.997G>T (p.Asp333Tyr)
c.923-2539G>T (n.923-2539G>T)
c.1003G>T (p.Asp335Tyr)
c.1045G>T (p.Asp349Tyr)
c.586G>T (p.Asp196Tyr)
5g.162149192A=CA1596380259GABRG2c.1008A=
c.1127A= (p.Asp376=)
c.1090A=
n.261A=
c.722A= (p.Asp241=)
c.1007A= (p.Asp336=)
c.884A=
c.398A= (p.Asp133=)
c.935A= (p.Asp312=)
c.*207A= (n.*207A=)
c.941A= (p.Asp314=)
n.305A=
n.3538A=
c.445A=
c.920A= (p.Asp307=)
c.*609A= (n.*609A=)
c.1128A= (n.1128A=)
c.998A= (p.Asp333=)
c.923-2538A= (n.923-2538A=)
c.1004A= (p.Asp335=)
c.1046A= (p.Asp349=)
c.587A= (p.Asp196=)
5g.162149192A>CCA362182472GABRG2c.1008A>C
c.1127A>C (p.Asp376Ala)
c.1090A>C
n.261A>C
c.722A>C (p.Asp241Ala)
c.1007A>C (p.Asp336Ala)
c.884A>C
c.398A>C (p.Asp133Ala)
c.935A>C (p.Asp312Ala)
c.*207A>C (n.*207A>C)
c.941A>C (p.Asp314Ala)
n.305A>C
n.3538A>C
c.445A>C
c.920A>C (p.Asp307Ala)
c.*609A>C (n.*609A>C)
c.1128A>C (n.1128A>C)
c.998A>C (p.Asp333Ala)
c.923-2538A>C (n.923-2538A>C)
c.1004A>C (p.Asp335Ala)
c.1046A>C (p.Asp349Ala)
c.587A>C (p.Asp196Ala)
5g.162149192A>GCA16612026GABRG2c.1008A>G
c.1127A>G (p.Asp376Gly)
c.1090A>G
n.261A>G
c.722A>G (p.Asp241Gly)
c.1007A>G (p.Asp336Gly)
c.884A>G
c.398A>G (p.Asp133Gly)
c.935A>G (p.Asp312Gly)
c.*207A>G (n.*207A>G)
c.941A>G (p.Asp314Gly)
n.305A>G
n.3538A>G
c.445A>G
c.920A>G (p.Asp307Gly)
c.*609A>G (n.*609A>G)
c.1128A>G (n.1128A>G)
c.998A>G (p.Asp333Gly)
c.923-2538A>G (n.923-2538A>G)
c.1004A>G (p.Asp335Gly)
c.1046A>G (p.Asp349Gly)
c.587A>G (p.Asp196Gly)
 ClinVar dbSNP
5g.162149192A>TCA362182471GABRG2c.1008A>T
c.1127A>T (p.Asp376Val)
c.1090A>T
n.261A>T
c.722A>T (p.Asp241Val)
c.1007A>T (p.Asp336Val)
c.884A>T
c.398A>T (p.Asp133Val)
c.935A>T (p.Asp312Val)
c.*207A>T (n.*207A>T)
c.941A>T (p.Asp314Val)
n.305A>T
n.3538A>T
c.445A>T
c.920A>T (p.Asp307Val)
c.*609A>T (n.*609A>T)
c.1128A>T (n.1128A>T)
c.998A>T (p.Asp333Val)
c.923-2538A>T (n.923-2538A>T)
c.1004A>T (p.Asp335Val)
c.1046A>T (p.Asp349Val)
c.587A>T (p.Asp196Val)
5g.162149193T>ACA362182473GABRG2c.1009T>A
c.1128T>A (p.Asp376Glu)
c.1091T>A
n.262T>A
c.723T>A (p.Asp241Glu)
c.1008T>A (p.Asp336Glu)
c.885T>A
c.399T>A (p.Asp133Glu)
c.936T>A (p.Asp312Glu)
c.*208T>A (n.*208T>A)
c.942T>A (p.Asp314Glu)
n.306T>A
n.3539T>A
c.446T>A
c.921T>A (p.Asp307Glu)
c.*610T>A (n.*610T>A)
c.1129T>A (n.1129T>A)
c.999T>A (p.Asp333Glu)
c.923-2537T>A (n.923-2537T>A)
c.1005T>A (p.Asp335Glu)
c.1047T>A (p.Asp349Glu)
c.588T>A (p.Asp196Glu)
 ClinVar
5g.162149193T>CCA447610279GABRG2c.1009T>C
c.1128T>C (p.Asp376=)
c.1091T>C
n.262T>C
c.723T>C (p.Asp241=)
c.1008T>C (p.Asp336=)
c.885T>C
c.399T>C (p.Asp133=)
c.936T>C (p.Asp312=)
c.*208T>C (n.*208T>C)
c.942T>C (p.Asp314=)
n.306T>C
n.3539T>C
c.446T>C
c.921T>C (p.Asp307=)
c.*610T>C (n.*610T>C)
c.1129T>C (n.1129T>C)
c.999T>C (p.Asp333=)
c.923-2537T>C (n.923-2537T>C)
c.1005T>C (p.Asp335=)
c.1047T>C (p.Asp349=)
c.588T>C (p.Asp196=)
5g.162149193T>GCA362182474GABRG2c.1009T>G
c.1128T>G (p.Asp376Glu)
c.1091T>G
n.262T>G
c.723T>G (p.Asp241Glu)
c.1008T>G (p.Asp336Glu)
c.885T>G
c.399T>G (p.Asp133Glu)
c.936T>G (p.Asp312Glu)
c.*208T>G (n.*208T>G)
c.942T>G (p.Asp314Glu)
n.306T>G
n.3539T>G
c.446T>G
c.921T>G (p.Asp307Glu)
c.*610T>G (n.*610T>G)
c.1129T>G (n.1129T>G)
c.999T>G (p.Asp333Glu)
c.923-2537T>G (n.923-2537T>G)
c.1005T>G (p.Asp335Glu)
c.1047T>G (p.Asp349Glu)
c.588T>G (p.Asp196Glu)
5g.162149194C>ACA362182475GABRG2c.1010C>A
c.1129C>A (p.Leu377Ile)
c.1092C>A
n.263C>A
c.724C>A (p.Leu242Ile)
c.1009C>A (p.Leu337Ile)
c.886C>A
c.400C>A (p.Leu134Ile)
c.937C>A (p.Leu313Ile)
c.*209C>A (n.*209C>A)
c.943C>A (p.Leu315Ile)
n.307C>A
n.3540C>A
c.447C>A
c.922C>A (p.Leu308Ile)
c.*611C>A (n.*611C>A)
c.1130C>A (n.1130C>A)
c.1000C>A (p.Leu334Ile)
c.923-2536C>A (n.923-2536C>A)
c.1006C>A (p.Leu336Ile)
c.1048C>A (p.Leu350Ile)
c.589C>A (p.Leu197Ile)
 gnomAD v4
5g.162149194C>GCA362182476GABRG2c.1010C>G
c.1129C>G (p.Leu377Val)
c.1092C>G
n.263C>G
c.724C>G (p.Leu242Val)
c.1009C>G (p.Leu337Val)
c.886C>G
c.400C>G (p.Leu134Val)
c.937C>G (p.Leu313Val)
c.*209C>G (n.*209C>G)
c.943C>G (p.Leu315Val)
n.307C>G
n.3540C>G
c.447C>G
c.922C>G (p.Leu308Val)
c.*611C>G (n.*611C>G)
c.1130C>G (n.1130C>G)
c.1000C>G (p.Leu334Val)
c.923-2536C>G (n.923-2536C>G)
c.1006C>G (p.Leu336Val)
c.1048C>G (p.Leu350Val)
c.589C>G (p.Leu197Val)
5g.162149194C>TCA362182477GABRG2c.1010C>T
c.1129C>T (p.Leu377Phe)
c.1092C>T
n.263C>T
c.724C>T (p.Leu242Phe)
c.1009C>T (p.Leu337Phe)
c.886C>T
c.400C>T (p.Leu134Phe)
c.937C>T (p.Leu313Phe)
c.*209C>T (n.*209C>T)
c.943C>T (p.Leu315Phe)
n.307C>T
n.3540C>T
c.447C>T
c.922C>T (p.Leu308Phe)
c.*611C>T (n.*611C>T)
c.1130C>T (n.1130C>T)
c.1000C>T (p.Leu334Phe)
c.923-2536C>T (n.923-2536C>T)
c.1006C>T (p.Leu336Phe)
c.1048C>T (p.Leu350Phe)
c.589C>T (p.Leu197Phe)
5g.162149195T>ACA362182478GABRG2c.1011T>A
c.1130T>A (p.Leu377His)
c.1093T>A
n.264T>A
c.725T>A (p.Leu242His)
c.1010T>A (p.Leu337His)
c.887T>A
c.401T>A (p.Leu134His)
c.938T>A (p.Leu313His)
c.*210T>A (n.*210T>A)
c.944T>A (p.Leu315His)
n.308T>A
n.3541T>A
c.448T>A
c.923T>A (p.Leu308His)
c.*612T>A (n.*612T>A)
c.1131T>A (n.1131T>A)
c.1001T>A (p.Leu334His)
c.923-2535T>A (n.923-2535T>A)
c.1007T>A (p.Leu336His)
c.1049T>A (p.Leu350His)
c.590T>A (p.Leu197His)
5g.162149195T>CCA362182479GABRG2c.1011T>C
c.1130T>C (p.Leu377Pro)
c.1093T>C
n.264T>C
c.725T>C (p.Leu242Pro)
c.1010T>C (p.Leu337Pro)
c.887T>C
c.401T>C (p.Leu134Pro)
c.938T>C (p.Leu313Pro)
c.*210T>C (n.*210T>C)
c.944T>C (p.Leu315Pro)
n.308T>C
n.3541T>C
c.448T>C
c.923T>C (p.Leu308Pro)
c.*612T>C (n.*612T>C)
c.1131T>C (n.1131T>C)
c.1001T>C (p.Leu334Pro)
c.923-2535T>C (n.923-2535T>C)
c.1007T>C (p.Leu336Pro)
c.1049T>C (p.Leu350Pro)
c.590T>C (p.Leu197Pro)
 gnomAD v4
5g.162149195T>GCA362182480GABRG2c.1011T>G
c.1130T>G (p.Leu377Arg)
c.1093T>G
n.264T>G
c.725T>G (p.Leu242Arg)
c.1010T>G (p.Leu337Arg)
c.887T>G
c.401T>G (p.Leu134Arg)
c.938T>G (p.Leu313Arg)
c.*210T>G (n.*210T>G)
c.944T>G (p.Leu315Arg)
n.308T>G
n.3541T>G
c.448T>G
c.923T>G (p.Leu308Arg)
c.*612T>G (n.*612T>G)
c.1131T>G (n.1131T>G)
c.1001T>G (p.Leu334Arg)
c.923-2535T>G (n.923-2535T>G)
c.1007T>G (p.Leu336Arg)
c.1049T>G (p.Leu350Arg)
c.590T>G (p.Leu197Arg)
 ClinVar dbSNP
5g.162149195T=CA1596380260GABRG2c.1011T=
c.1130T= (p.Leu377=)
c.1093T=
n.264T=
c.725T= (p.Leu242=)
c.1010T= (p.Leu337=)
c.887T=
c.401T= (p.Leu134=)
c.938T= (p.Leu313=)
c.*210T= (n.*210T=)
c.944T= (p.Leu315=)
n.308T=
n.3541T=
c.448T=
c.923T= (p.Leu308=)
c.*612T= (n.*612T=)
c.1131T= (n.1131T=)
c.1001T= (p.Leu334=)
c.923-2535T= (n.923-2535T=)
c.1007T= (p.Leu336=)
c.1049T= (p.Leu350=)
c.590T= (p.Leu197=)
5g.162149196C>ACA447610282GABRG2c.1012C>A
c.1131C>A (p.Leu377=)
c.1094C>A
n.265C>A
c.726C>A (p.Leu242=)
c.1011C>A (p.Leu337=)
c.888C>A
c.402C>A (p.Leu134=)
c.939C>A (p.Leu313=)
c.*211C>A (n.*211C>A)
c.945C>A (p.Leu315=)
n.309C>A
n.3542C>A
c.449C>A
c.924C>A (p.Leu308=)
c.*613C>A (n.*613C>A)
c.1132C>A (n.1132C>A)
c.1002C>A (p.Leu334=)
c.923-2534C>A (n.923-2534C>A)
c.1008C>A (p.Leu336=)
c.1050C>A (p.Leu350=)
c.591C>A (p.Leu197=)
5g.162149196C>GCA447610281GABRG2c.1012C>G
c.1131C>G (p.Leu377=)
c.1094C>G
n.265C>G
c.726C>G (p.Leu242=)
c.1011C>G (p.Leu337=)
c.888C>G
c.402C>G (p.Leu134=)
c.939C>G (p.Leu313=)
c.*211C>G (n.*211C>G)
c.945C>G (p.Leu315=)
n.309C>G
n.3542C>G
c.449C>G
c.924C>G (p.Leu308=)
c.*613C>G (n.*613C>G)
c.1132C>G (n.1132C>G)
c.1002C>G (p.Leu334=)
c.923-2534C>G (n.923-2534C>G)
c.1008C>G (p.Leu336=)
c.1050C>G (p.Leu350=)
c.591C>G (p.Leu197=)
5g.162149196C>TCA447610280GABRG2c.1012C>T
c.1131C>T (p.Leu377=)
c.1094C>T
n.265C>T
c.726C>T (p.Leu242=)
c.1011C>T (p.Leu337=)
c.888C>T
c.402C>T (p.Leu134=)
c.939C>T (p.Leu313=)
c.*211C>T (n.*211C>T)
c.945C>T (p.Leu315=)
n.309C>T
n.3542C>T
c.449C>T
c.924C>T (p.Leu308=)
c.*613C>T (n.*613C>T)
c.1132C>T (n.1132C>T)
c.1002C>T (p.Leu334=)
c.923-2534C>T (n.923-2534C>T)
c.1008C>T (p.Leu336=)
c.1050C>T (p.Leu350=)
c.591C>T (p.Leu197=)
 gnomAD v3 gnomAD v4
5g.162149197T>ACA362182481GABRG2c.1013T>A
c.1132T>A (p.Phe378Ile)
c.1095T>A
n.266T>A
c.727T>A (p.Phe243Ile)
c.1012T>A (p.Phe338Ile)
c.889T>A
c.403T>A (p.Phe135Ile)
c.940T>A (p.Phe314Ile)
c.*212T>A (n.*212T>A)
c.946T>A (p.Phe316Ile)
n.310T>A
n.3543T>A
c.450T>A
c.925T>A (p.Phe309Ile)
c.*614T>A (n.*614T>A)
c.1133T>A (n.1133T>A)
c.1003T>A (p.Phe335Ile)
c.923-2533T>A (n.923-2533T>A)
c.1009T>A (p.Phe337Ile)
c.1051T>A (p.Phe351Ile)
c.592T>A (p.Phe198Ile)
5g.162149197T>CCA362182482GABRG2c.1013T>C
c.1132T>C (p.Phe378Leu)
c.1095T>C
n.266T>C
c.727T>C (p.Phe243Leu)
c.1012T>C (p.Phe338Leu)
c.889T>C
c.403T>C (p.Phe135Leu)
c.940T>C (p.Phe314Leu)
c.*212T>C (n.*212T>C)
c.946T>C (p.Phe316Leu)
n.310T>C
n.3543T>C
c.450T>C
c.925T>C (p.Phe309Leu)
c.*614T>C (n.*614T>C)
c.1133T>C (n.1133T>C)
c.1003T>C (p.Phe335Leu)
c.923-2533T>C (n.923-2533T>C)
c.1009T>C (p.Phe337Leu)
c.1051T>C (p.Phe351Leu)
c.592T>C (p.Phe198Leu)
 ClinVar dbSNP
5g.162149197T>GCA362182483GABRG2c.1013T>G
c.1132T>G (p.Phe378Val)
c.1095T>G
n.266T>G
c.727T>G (p.Phe243Val)
c.1012T>G (p.Phe338Val)
c.889T>G
c.403T>G (p.Phe135Val)
c.940T>G (p.Phe314Val)
c.*212T>G (n.*212T>G)
c.946T>G (p.Phe316Val)
n.310T>G
n.3543T>G
c.450T>G
c.925T>G (p.Phe309Val)
c.*614T>G (n.*614T>G)
c.1133T>G (n.1133T>G)
c.1003T>G (p.Phe335Val)
c.923-2533T>G (n.923-2533T>G)
c.1009T>G (p.Phe337Val)
c.1051T>G (p.Phe351Val)
c.592T>G (p.Phe198Val)
5g.162149197T=CA1596380261GABRG2c.1013T=
c.1132T= (p.Phe378=)
c.1095T=
n.266T=
c.727T= (p.Phe243=)
c.1012T= (p.Phe338=)
c.889T=
c.403T= (p.Phe135=)
c.940T= (p.Phe314=)
c.*212T= (n.*212T=)
c.946T= (p.Phe316=)
n.310T=
n.3543T=
c.450T=
c.925T= (p.Phe309=)
c.*614T= (n.*614T=)
c.1133T= (n.1133T=)
c.1003T= (p.Phe335=)
c.923-2533T= (n.923-2533T=)
c.1009T= (p.Phe337=)
c.1051T= (p.Phe351=)
c.592T= (p.Phe198=)
5g.162149198T>ACA362182484GABRG2c.1014T>A
c.1133T>A (p.Phe378Tyr)
c.1096T>A
n.267T>A
c.728T>A (p.Phe243Tyr)
c.1013T>A (p.Phe338Tyr)
c.890T>A
c.404T>A (p.Phe135Tyr)
c.941T>A (p.Phe314Tyr)
c.*213T>A (n.*213T>A)
c.947T>A (p.Phe316Tyr)
n.311T>A
n.3544T>A
c.451T>A
c.926T>A (p.Phe309Tyr)
c.*615T>A (n.*615T>A)
c.1134T>A (n.1134T>A)
c.1004T>A (p.Phe335Tyr)
c.923-2532T>A (n.923-2532T>A)
c.1010T>A (p.Phe337Tyr)
c.1052T>A (p.Phe351Tyr)
c.593T>A (p.Phe198Tyr)
5g.162149198T>CCA362182486GABRG2c.1014T>C
c.1133T>C (p.Phe378Ser)
c.1096T>C
n.267T>C
c.728T>C (p.Phe243Ser)
c.1013T>C (p.Phe338Ser)
c.890T>C
c.404T>C (p.Phe135Ser)
c.941T>C (p.Phe314Ser)
c.*213T>C (n.*213T>C)
c.947T>C (p.Phe316Ser)
n.311T>C
n.3544T>C
c.451T>C
c.926T>C (p.Phe309Ser)
c.*615T>C (n.*615T>C)
c.1134T>C (n.1134T>C)
c.1004T>C (p.Phe335Ser)
c.923-2532T>C (n.923-2532T>C)
c.1010T>C (p.Phe337Ser)
c.1052T>C (p.Phe351Ser)
c.593T>C (p.Phe198Ser)
5g.162149198T>GCA362182485GABRG2c.1014T>G
c.1133T>G (p.Phe378Cys)
c.1096T>G
n.267T>G
c.728T>G (p.Phe243Cys)
c.1013T>G (p.Phe338Cys)
c.890T>G
c.404T>G (p.Phe135Cys)
c.941T>G (p.Phe314Cys)
c.*213T>G (n.*213T>G)
c.947T>G (p.Phe316Cys)
n.311T>G
n.3544T>G
c.451T>G
c.926T>G (p.Phe309Cys)
c.*615T>G (n.*615T>G)
c.1134T>G (n.1134T>G)
c.1004T>G (p.Phe335Cys)
c.923-2532T>G (n.923-2532T>G)
c.1010T>G (p.Phe337Cys)
c.1052T>G (p.Phe351Cys)
c.593T>G (p.Phe198Cys)
5g.162149199T>ACA362182487GABRG2c.1015T>A
c.1134T>A (p.Phe378Leu)
c.1097T>A
n.268T>A
c.729T>A (p.Phe243Leu)
c.1014T>A (p.Phe338Leu)
c.891T>A
c.405T>A (p.Phe135Leu)
c.942T>A (p.Phe314Leu)
c.*214T>A (n.*214T>A)
c.948T>A (p.Phe316Leu)
n.312T>A
n.3545T>A
c.452T>A
c.927T>A (p.Phe309Leu)
c.*616T>A (n.*616T>A)
c.1135T>A (n.1135T>A)
c.1005T>A (p.Phe335Leu)
c.923-2531T>A (n.923-2531T>A)
c.1011T>A (p.Phe337Leu)
c.1053T>A (p.Phe351Leu)
c.594T>A (p.Phe198Leu)
5g.162149199T>CCA16604858GABRG2c.1015T>C
c.1134T>C (p.Phe378=)
c.1097T>C
n.268T>C
c.729T>C (p.Phe243=)
c.1014T>C (p.Phe338=)
c.891T>C
c.405T>C (p.Phe135=)
c.942T>C (p.Phe314=)
c.*214T>C (n.*214T>C)
c.948T>C (p.Phe316=)
n.312T>C
n.3545T>C
c.452T>C
c.927T>C (p.Phe309=)
c.*616T>C (n.*616T>C)
c.1135T>C (n.1135T>C)
c.1005T>C (p.Phe335=)
c.923-2531T>C (n.923-2531T>C)
c.1011T>C (p.Phe337=)
c.1053T>C (p.Phe351=)
c.594T>C (p.Phe198=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.162149199T>GCA362182488GABRG2c.1015T>G
c.1134T>G (p.Phe378Leu)
c.1097T>G
n.268T>G
c.729T>G (p.Phe243Leu)
c.1014T>G (p.Phe338Leu)
c.891T>G
c.405T>G (p.Phe135Leu)
c.942T>G (p.Phe314Leu)
c.*214T>G (n.*214T>G)
c.948T>G (p.Phe316Leu)
n.312T>G
n.3545T>G
c.452T>G
c.927T>G (p.Phe309Leu)
c.*616T>G (n.*616T>G)
c.1135T>G (n.1135T>G)
c.1005T>G (p.Phe335Leu)
c.923-2531T>G (n.923-2531T>G)
c.1011T>G (p.Phe337Leu)
c.1053T>G (p.Phe351Leu)
c.594T>G (p.Phe198Leu)
5g.162149199T=CA1596380262GABRG2c.1015T=
c.1134T= (p.Phe378=)
c.1097T=
n.268T=
c.729T= (p.Phe243=)
c.1014T= (p.Phe338=)
c.891T=
c.405T= (p.Phe135=)
c.942T= (p.Phe314=)
c.*214T= (n.*214T=)
c.948T= (p.Phe316=)
n.312T=
n.3545T=
c.452T=
c.927T= (p.Phe309=)
c.*616T= (n.*616T=)
c.1135T= (n.1135T=)
c.1005T= (p.Phe335=)
c.923-2531T= (n.923-2531T=)
c.1011T= (p.Phe337=)
c.1053T= (p.Phe351=)
c.594T= (p.Phe198=)
5g.162149200G>ACA362182489GABRG2c.1016G>A
c.1135G>A (p.Val379Ile)
c.1098G>A
n.269G>A
c.730G>A (p.Val244Ile)
c.1015G>A (p.Val339Ile)
c.892G>A
c.406G>A (p.Val136Ile)
c.943G>A (p.Val315Ile)
c.*215G>A (n.*215G>A)
c.949G>A (p.Val317Ile)
n.313G>A
n.3546G>A
c.453G>A
c.928G>A (p.Val310Ile)
c.*617G>A (n.*617G>A)
c.1136G>A (n.1136G>A)
c.1006G>A (p.Val336Ile)
c.923-2530G>A (n.923-2530G>A)
c.1012G>A (p.Val338Ile)
c.1054G>A (p.Val352Ile)
c.595G>A (p.Val199Ile)
5g.162149200G>CCA362182490GABRG2c.1016G>C
c.1135G>C (p.Val379Leu)
c.1098G>C
n.269G>C
c.730G>C (p.Val244Leu)
c.1015G>C (p.Val339Leu)
c.892G>C
c.406G>C (p.Val136Leu)
c.943G>C (p.Val315Leu)
c.*215G>C (n.*215G>C)
c.949G>C (p.Val317Leu)
n.313G>C
n.3546G>C
c.453G>C
c.928G>C (p.Val310Leu)
c.*617G>C (n.*617G>C)
c.1136G>C (n.1136G>C)
c.1006G>C (p.Val336Leu)
c.923-2530G>C (n.923-2530G>C)
c.1012G>C (p.Val338Leu)
c.1054G>C (p.Val352Leu)
c.595G>C (p.Val199Leu)
5g.162149200G=CA1596380263GABRG2c.1016G=
c.1135G= (p.Val379=)
c.1098G=
n.269G=
c.730G= (p.Val244=)
c.1015G= (p.Val339=)
c.892G=
c.406G= (p.Val136=)
c.943G= (p.Val315=)
c.*215G= (n.*215G=)
c.949G= (p.Val317=)
n.313G=
n.3546G=
c.453G=
c.928G= (p.Val310=)
c.*617G= (n.*617G=)
c.1136G= (n.1136G=)
c.1006G= (p.Val336=)
c.923-2530G= (n.923-2530G=)
c.1012G= (p.Val338=)
c.1054G= (p.Val352=)
c.595G= (p.Val199=)
5g.162149200G>TCA362182491GABRG2c.1016G>T
c.1135G>T (p.Val379Leu)
c.1098G>T
n.269G>T
c.730G>T (p.Val244Leu)
c.1015G>T (p.Val339Leu)
c.892G>T
c.406G>T (p.Val136Leu)
c.943G>T (p.Val315Leu)
c.*215G>T (n.*215G>T)
c.949G>T (p.Val317Leu)
n.313G>T
n.3546G>T
c.453G>T
c.928G>T (p.Val310Leu)
c.*617G>T (n.*617G>T)
c.1136G>T (n.1136G>T)
c.1006G>T (p.Val336Leu)
c.923-2530G>T (n.923-2530G>T)
c.1012G>T (p.Val338Leu)
c.1054G>T (p.Val352Leu)
c.595G>T (p.Val199Leu)
 dbSNP
5g.162149201T>ACA362182492GABRG2c.1017T>A
c.1136T>A (p.Val379Glu)
c.1099T>A
n.270T>A
c.731T>A (p.Val244Glu)
c.1016T>A (p.Val339Glu)
c.893T>A
c.407T>A (p.Val136Glu)
c.944T>A (p.Val315Glu)
c.*216T>A (n.*216T>A)
c.950T>A (p.Val317Glu)
n.314T>A
n.3547T>A
c.454T>A
c.929T>A (p.Val310Glu)
c.*618T>A (n.*618T>A)
c.1137T>A (n.1137T>A)
c.1007T>A (p.Val336Glu)
c.923-2529T>A (n.923-2529T>A)
c.1013T>A (p.Val338Glu)
c.1055T>A (p.Val352Glu)
c.596T>A (p.Val199Glu)
5g.162149201T>CCA362182493GABRG2c.1017T>C
c.1136T>C (p.Val379Ala)
c.1099T>C
n.270T>C
c.731T>C (p.Val244Ala)
c.1016T>C (p.Val339Ala)
c.893T>C
c.407T>C (p.Val136Ala)
c.944T>C (p.Val315Ala)
c.*216T>C (n.*216T>C)
c.950T>C (p.Val317Ala)
n.314T>C
n.3547T>C
c.454T>C
c.929T>C (p.Val310Ala)
c.*618T>C (n.*618T>C)
c.1137T>C (n.1137T>C)
c.1007T>C (p.Val336Ala)
c.923-2529T>C (n.923-2529T>C)
c.1013T>C (p.Val338Ala)
c.1055T>C (p.Val352Ala)
c.596T>C (p.Val199Ala)
5g.162149201T>GCA362182494GABRG2c.1017T>G
c.1136T>G (p.Val379Gly)
c.1099T>G
n.270T>G
c.731T>G (p.Val244Gly)
c.1016T>G (p.Val339Gly)
c.893T>G
c.407T>G (p.Val136Gly)
c.944T>G (p.Val315Gly)
c.*216T>G (n.*216T>G)
c.950T>G (p.Val317Gly)
n.314T>G
n.3547T>G
c.454T>G
c.929T>G (p.Val310Gly)
c.*618T>G (n.*618T>G)
c.1137T>G (n.1137T>G)
c.1007T>G (p.Val336Gly)
c.923-2529T>G (n.923-2529T>G)
c.1013T>G (p.Val338Gly)
c.1055T>G (p.Val352Gly)
c.596T>G (p.Val199Gly)
5g.162149202A=CA1596380264GABRG2c.1018A=
c.1137A= (p.Val379=)
c.1100A=
n.271A=
c.732A= (p.Val244=)
c.1017A= (p.Val339=)
c.894A=
c.408A= (p.Val136=)
c.945A= (p.Val315=)
c.*217A= (n.*217A=)
c.951A= (p.Val317=)
n.315A=
n.3548A=
c.455A=
c.930A= (p.Val310=)
c.*619A= (n.*619A=)
c.1138A= (n.1138A=)
c.1008A= (p.Val336=)
c.923-2528A= (n.923-2528A=)
c.1014A= (p.Val338=)
c.1056A= (p.Val352=)
c.597A= (p.Val199=)
5g.162149202A>CCA447610283GABRG2c.1018A>C
c.1137A>C (p.Val379=)
c.1100A>C
n.271A>C
c.732A>C (p.Val244=)
c.1017A>C (p.Val339=)
c.894A>C
c.408A>C (p.Val136=)
c.945A>C (p.Val315=)
c.*217A>C (n.*217A>C)
c.951A>C (p.Val317=)
n.315A>C
n.3548A>C
c.455A>C
c.930A>C (p.Val310=)
c.*619A>C (n.*619A>C)
c.1138A>C (n.1138A>C)
c.1008A>C (p.Val336=)
c.923-2528A>C (n.923-2528A>C)
c.1014A>C (p.Val338=)
c.1056A>C (p.Val352=)
c.597A>C (p.Val199=)
5g.162149202A>GCA447610284GABRG2c.1018A>G
c.1137A>G (p.Val379=)
c.1100A>G
n.271A>G
c.732A>G (p.Val244=)
c.1017A>G (p.Val339=)
c.894A>G
c.408A>G (p.Val136=)
c.945A>G (p.Val315=)
c.*217A>G (n.*217A>G)
c.951A>G (p.Val317=)
n.315A>G
n.3548A>G
c.455A>G
c.930A>G (p.Val310=)
c.*619A>G (n.*619A>G)
c.1138A>G (n.1138A>G)
c.1008A>G (p.Val336=)
c.923-2528A>G (n.923-2528A>G)
c.1014A>G (p.Val338=)
c.1056A>G (p.Val352=)
c.597A>G (p.Val199=)
5g.162149202A>TCA3544866GABRG2c.1018A>T
c.1137A>T (p.Val379=)
c.1100A>T
n.271A>T
c.732A>T (p.Val244=)
c.1017A>T (p.Val339=)
c.894A>T
c.408A>T (p.Val136=)
c.945A>T (p.Val315=)
c.*217A>T (n.*217A>T)
c.951A>T (p.Val317=)
n.315A>T
n.3548A>T
c.455A>T
c.930A>T (p.Val310=)
c.*619A>T (n.*619A>T)
c.1138A>T (n.1138A>T)
c.1008A>T (p.Val336=)
c.923-2528A>T (n.923-2528A>T)
c.1014A>T (p.Val338=)
c.1056A>T (p.Val352=)
c.597A>T (p.Val199=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.162149203T>ACA362182495GABRG2c.1019T>A
c.1138T>A (p.Ser380Thr)
c.1101T>A
n.272T>A
c.733T>A (p.Ser245Thr)
c.1018T>A (p.Ser340Thr)
c.895T>A
c.409T>A (p.Ser137Thr)
c.946T>A (p.Ser316Thr)
c.*218T>A (n.*218T>A)
c.952T>A (p.Ser318Thr)
n.316T>A
n.3549T>A
c.456T>A
c.931T>A (p.Ser311Thr)
c.*620T>A (n.*620T>A)
c.1139T>A (n.1139T>A)
c.1009T>A (p.Ser337Thr)
c.923-2527T>A (n.923-2527T>A)
c.1015T>A (p.Ser339Thr)
c.1057T>A (p.Ser353Thr)
c.598T>A (p.Ser200Thr)
5g.162149203T>CCA362182496GABRG2c.1019T>C
c.1138T>C (p.Ser380Pro)
c.1101T>C
n.272T>C
c.733T>C (p.Ser245Pro)
c.1018T>C (p.Ser340Pro)
c.895T>C
c.409T>C (p.Ser137Pro)
c.946T>C (p.Ser316Pro)
c.*218T>C (n.*218T>C)
c.952T>C (p.Ser318Pro)
n.316T>C
n.3549T>C
c.456T>C
c.931T>C (p.Ser311Pro)
c.*620T>C (n.*620T>C)
c.1139T>C (n.1139T>C)
c.1009T>C (p.Ser337Pro)
c.923-2527T>C (n.923-2527T>C)
c.1015T>C (p.Ser339Pro)
c.1057T>C (p.Ser353Pro)
c.598T>C (p.Ser200Pro)
5g.162149203T>GCA362182497GABRG2c.1019T>G
c.1138T>G (p.Ser380Ala)
c.1101T>G
n.272T>G
c.733T>G (p.Ser245Ala)
c.1018T>G (p.Ser340Ala)
c.895T>G
c.409T>G (p.Ser137Ala)
c.946T>G (p.Ser316Ala)
c.*218T>G (n.*218T>G)
c.952T>G (p.Ser318Ala)
n.316T>G
n.3549T>G
c.456T>G
c.931T>G (p.Ser311Ala)
c.*620T>G (n.*620T>G)
c.1139T>G (n.1139T>G)
c.1009T>G (p.Ser337Ala)
c.923-2527T>G (n.923-2527T>G)
c.1015T>G (p.Ser339Ala)
c.1057T>G (p.Ser353Ala)
c.598T>G (p.Ser200Ala)
5g.162149204C>ACA362182498GABRG2c.1020C>A
c.1139C>A (p.Ser380Tyr)
c.1102C>A
n.273C>A
c.734C>A (p.Ser245Tyr)
c.1019C>A (p.Ser340Tyr)
c.896C>A
c.410C>A (p.Ser137Tyr)
c.947C>A (p.Ser316Tyr)
c.*219C>A (n.*219C>A)
c.953C>A (p.Ser318Tyr)
n.317C>A
n.3550C>A
c.457C>A
c.932C>A (p.Ser311Tyr)
c.*621C>A (n.*621C>A)
c.1140C>A (n.1140C>A)
c.1010C>A (p.Ser337Tyr)
c.923-2526C>A (n.923-2526C>A)
c.1016C>A (p.Ser339Tyr)
c.1058C>A (p.Ser353Tyr)
c.599C>A (p.Ser200Tyr)
 COSMIC
5g.162149204C>GCA362182499GABRG2c.1020C>G
c.1139C>G (p.Ser380Cys)
c.1102C>G
n.273C>G
c.734C>G (p.Ser245Cys)
c.1019C>G (p.Ser340Cys)
c.896C>G
c.410C>G (p.Ser137Cys)
c.947C>G (p.Ser316Cys)
c.*219C>G (n.*219C>G)
c.953C>G (p.Ser318Cys)
n.317C>G
n.3550C>G
c.457C>G
c.932C>G (p.Ser311Cys)
c.*621C>G (n.*621C>G)
c.1140C>G (n.1140C>G)
c.1010C>G (p.Ser337Cys)
c.923-2526C>G (n.923-2526C>G)
c.1016C>G (p.Ser339Cys)
c.1058C>G (p.Ser353Cys)
c.599C>G (p.Ser200Cys)
5g.162149204C>TCA362182500GABRG2c.1020C>T
c.1139C>T (p.Ser380Phe)
c.1102C>T
n.273C>T
c.734C>T (p.Ser245Phe)
c.1019C>T (p.Ser340Phe)
c.896C>T
c.410C>T (p.Ser137Phe)
c.947C>T (p.Ser316Phe)
c.*219C>T (n.*219C>T)
c.953C>T (p.Ser318Phe)
n.317C>T
n.3550C>T
c.457C>T
c.932C>T (p.Ser311Phe)
c.*621C>T (n.*621C>T)
c.1140C>T (n.1140C>T)
c.1010C>T (p.Ser337Phe)
c.923-2526C>T (n.923-2526C>T)
c.1016C>T (p.Ser339Phe)
c.1058C>T (p.Ser353Phe)
c.599C>T (p.Ser200Phe)
5g.162149205T>ACA447610285GABRG2c.1021T>A
c.1140T>A (p.Ser380=)
c.1103T>A
n.274T>A
c.735T>A (p.Ser245=)
c.1020T>A (p.Ser340=)
c.897T>A
c.411T>A (p.Ser137=)
c.948T>A (p.Ser316=)
c.*220T>A (n.*220T>A)
c.954T>A (p.Ser318=)
n.318T>A
n.3551T>A
c.458T>A
c.933T>A (p.Ser311=)
c.*622T>A (n.*622T>A)
c.1141T>A (n.1141T>A)
c.1011T>A (p.Ser337=)
c.923-2525T>A (n.923-2525T>A)
c.1017T>A (p.Ser339=)
c.1059T>A (p.Ser353=)
c.600T>A (p.Ser200=)
5g.162149205T>CCA447610286GABRG2c.1021T>C
c.1140T>C (p.Ser380=)
c.1103T>C
n.274T>C
c.735T>C (p.Ser245=)
c.1020T>C (p.Ser340=)
c.897T>C
c.411T>C (p.Ser137=)
c.948T>C (p.Ser316=)
c.*220T>C (n.*220T>C)
c.954T>C (p.Ser318=)
n.318T>C
n.3551T>C
c.458T>C
c.933T>C (p.Ser311=)
c.*622T>C (n.*622T>C)
c.1141T>C (n.1141T>C)
c.1011T>C (p.Ser337=)
c.923-2525T>C (n.923-2525T>C)
c.1017T>C (p.Ser339=)
c.1059T>C (p.Ser353=)
c.600T>C (p.Ser200=)
5g.162149205T>GCA447610287GABRG2c.1021T>G
c.1140T>G (p.Ser380=)
c.1103T>G
n.274T>G
c.735T>G (p.Ser245=)
c.1020T>G (p.Ser340=)
c.897T>G
c.411T>G (p.Ser137=)
c.948T>G (p.Ser316=)
c.*220T>G (n.*220T>G)
c.954T>G (p.Ser318=)
n.318T>G
n.3551T>G
c.458T>G
c.933T>G (p.Ser311=)
c.*622T>G (n.*622T>G)
c.1141T>G (n.1141T>G)
c.1011T>G (p.Ser337=)
c.923-2525T>G (n.923-2525T>G)
c.1017T>G (p.Ser339=)
c.1059T>G (p.Ser353=)
c.600T>G (p.Ser200=)
5g.162149210_162149213delCA2695205686GABRG2c.1026_1029del
c.1145_1148del (p.Cys382SerfsTer?)
c.1108_1111del
n.279_282del
c.740_743del (p.Cys247SerfsTer?)
c.1025_1028del (p.Cys342SerfsTer?)
c.902_905del
c.416_419del (p.Cys139SerfsTer?)
c.953_956del (p.Cys318SerfsTer?)
c.*225_*228del (n.*225_*228del)
c.959_962del (p.Cys320SerfsTer?)
n.323_326del
n.3556_3559del
c.463_466del
c.938_941del (p.Cys313SerfsTer?)
c.*627_*630del (n.*627_*630del)
c.1146_1149del (n.1146_1149del)
c.1016_1019del (p.Cys339SerfsTer?)
c.923-2520_923-2517del (n.923-2520_923-2517del)
c.1022_1025del (p.Cys341SerfsTer?)
c.1064_1067del (p.Cys355SerfsTer?)
c.605_608del (p.Cys202SerfsTer?)
5g.162149206G>ACA362182501GABRG2c.1022G>A
c.1141G>A (p.Val381Ile)
c.1104G>A
n.275G>A
c.736G>A (p.Val246Ile)
c.1021G>A (p.Val341Ile)
c.898G>A
c.412G>A (p.Val138Ile)
c.949G>A (p.Val317Ile)
c.*221G>A (n.*221G>A)
c.955G>A (p.Val319Ile)
n.319G>A
n.3552G>A
c.459G>A
c.934G>A (p.Val312Ile)
c.*623G>A (n.*623G>A)
c.1142G>A (n.1142G>A)
c.1012G>A (p.Val338Ile)
c.923-2524G>A (n.923-2524G>A)
c.1018G>A (p.Val340Ile)
c.1060G>A (p.Val354Ile)
c.601G>A (p.Val201Ile)
 dbSNP
5g.162149206G>CCA362182503GABRG2c.1022G>C
c.1141G>C (p.Val381Leu)
c.1104G>C
n.275G>C
c.736G>C (p.Val246Leu)
c.1021G>C (p.Val341Leu)
c.898G>C
c.412G>C (p.Val138Leu)
c.949G>C (p.Val317Leu)
c.*221G>C (n.*221G>C)
c.955G>C (p.Val319Leu)
n.319G>C
n.3552G>C
c.459G>C
c.934G>C (p.Val312Leu)
c.*623G>C (n.*623G>C)
c.1142G>C (n.1142G>C)
c.1012G>C (p.Val338Leu)
c.923-2524G>C (n.923-2524G>C)
c.1018G>C (p.Val340Leu)
c.1060G>C (p.Val354Leu)
c.601G>C (p.Val201Leu)
5g.162149206G=CA1596380265GABRG2c.1022G=
c.1141G= (p.Val381=)
c.1104G=
n.275G=
c.736G= (p.Val246=)
c.1021G= (p.Val341=)
c.898G=
c.412G= (p.Val138=)
c.949G= (p.Val317=)
c.*221G= (n.*221G=)
c.955G= (p.Val319=)
n.319G=
n.3552G=
c.459G=
c.934G= (p.Val312=)
c.*623G= (n.*623G=)
c.1142G= (n.1142G=)
c.1012G= (p.Val338=)
c.923-2524G= (n.923-2524G=)
c.1018G= (p.Val340=)
c.1060G= (p.Val354=)
c.601G= (p.Val201=)
5g.162149206G>TCA362182502GABRG2c.1022G>T
c.1141G>T (p.Val381Phe)
c.1104G>T
n.275G>T
c.736G>T (p.Val246Phe)
c.1021G>T (p.Val341Phe)
c.898G>T
c.412G>T (p.Val138Phe)
c.949G>T (p.Val317Phe)
c.*221G>T (n.*221G>T)
c.955G>T (p.Val319Phe)
n.319G>T
n.3552G>T
c.459G>T
c.934G>T (p.Val312Phe)
c.*623G>T (n.*623G>T)
c.1142G>T (n.1142G>T)
c.1012G>T (p.Val338Phe)
c.923-2524G>T (n.923-2524G>T)
c.1018G>T (p.Val340Phe)
c.1060G>T (p.Val354Phe)
c.601G>T (p.Val201Phe)
5g.162149207T>ACA362182504GABRG2c.1023T>A
c.1142T>A (p.Val381Asp)
c.1105T>A
n.276T>A
c.737T>A (p.Val246Asp)
c.1022T>A (p.Val341Asp)
c.899T>A
c.413T>A (p.Val138Asp)
c.950T>A (p.Val317Asp)
c.*222T>A (n.*222T>A)
c.956T>A (p.Val319Asp)
n.320T>A
n.3553T>A
c.460T>A
c.935T>A (p.Val312Asp)
c.*624T>A (n.*624T>A)
c.1143T>A (n.1143T>A)
c.1013T>A (p.Val338Asp)
c.923-2523T>A (n.923-2523T>A)
c.1019T>A (p.Val340Asp)
c.1061T>A (p.Val354Asp)
c.602T>A (p.Val201Asp)
5g.162149207T>CCA362182505GABRG2c.1023T>C
c.1142T>C (p.Val381Ala)
c.1105T>C
n.276T>C
c.737T>C (p.Val246Ala)
c.1022T>C (p.Val341Ala)
c.899T>C
c.413T>C (p.Val138Ala)
c.950T>C (p.Val317Ala)
c.*222T>C (n.*222T>C)
c.956T>C (p.Val319Ala)
n.320T>C
n.3553T>C
c.460T>C
c.935T>C (p.Val312Ala)
c.*624T>C (n.*624T>C)
c.1143T>C (n.1143T>C)
c.1013T>C (p.Val338Ala)
c.923-2523T>C (n.923-2523T>C)
c.1019T>C (p.Val340Ala)
c.1061T>C (p.Val354Ala)
c.602T>C (p.Val201Ala)
 COSMIC
5g.162149207T>GCA362182506GABRG2c.1023T>G
c.1142T>G (p.Val381Gly)
c.1105T>G
n.276T>G
c.737T>G (p.Val246Gly)
c.1022T>G (p.Val341Gly)
c.899T>G
c.413T>G (p.Val138Gly)
c.950T>G (p.Val317Gly)
c.*222T>G (n.*222T>G)
c.956T>G (p.Val319Gly)
n.320T>G
n.3553T>G
c.460T>G
c.935T>G (p.Val312Gly)
c.*624T>G (n.*624T>G)
c.1143T>G (n.1143T>G)
c.1013T>G (p.Val338Gly)
c.923-2523T>G (n.923-2523T>G)
c.1019T>G (p.Val340Gly)
c.1061T>G (p.Val354Gly)
c.602T>G (p.Val201Gly)
5g.162149208T>ACA447610288GABRG2c.1024T>A
c.1143T>A (p.Val381=)
c.1106T>A
n.277T>A
c.738T>A (p.Val246=)
c.1023T>A (p.Val341=)
c.900T>A
c.414T>A (p.Val138=)
c.951T>A (p.Val317=)
c.*223T>A (n.*223T>A)
c.957T>A (p.Val319=)
n.321T>A
n.3554T>A
c.461T>A
c.936T>A (p.Val312=)
c.*625T>A (n.*625T>A)
c.1144T>A (n.1144T>A)
c.1014T>A (p.Val338=)
c.923-2522T>A (n.923-2522T>A)
c.1020T>A (p.Val340=)
c.1062T>A (p.Val354=)
c.603T>A (p.Val201=)
5g.162149208T>CCA447610289GABRG2c.1024T>C
c.1143T>C (p.Val381=)
c.1106T>C
n.277T>C
c.738T>C (p.Val246=)
c.1023T>C (p.Val341=)
c.900T>C
c.414T>C (p.Val138=)
c.951T>C (p.Val317=)
c.*223T>C (n.*223T>C)
c.957T>C (p.Val319=)
n.321T>C
n.3554T>C
c.461T>C
c.936T>C (p.Val312=)
c.*625T>C (n.*625T>C)
c.1144T>C (n.1144T>C)
c.1014T>C (p.Val338=)
c.923-2522T>C (n.923-2522T>C)
c.1020T>C (p.Val340=)
c.1062T>C (p.Val354=)
c.603T>C (p.Val201=)
5g.162149208T>GCA447610290GABRG2c.1024T>G
c.1143T>G (p.Val381=)
c.1106T>G
n.277T>G
c.738T>G (p.Val246=)
c.1023T>G (p.Val341=)
c.900T>G
c.414T>G (p.Val138=)
c.951T>G (p.Val317=)
c.*223T>G (n.*223T>G)
c.957T>G (p.Val319=)
n.321T>G
n.3554T>G
c.461T>G
c.936T>G (p.Val312=)
c.*625T>G (n.*625T>G)
c.1144T>G (n.1144T>G)
c.1014T>G (p.Val338=)
c.923-2522T>G (n.923-2522T>G)
c.1020T>G (p.Val340=)
c.1062T>G (p.Val354=)
c.603T>G (p.Val201=)
5g.162149209T>ACA362182507GABRG2c.1025T>A
c.1144T>A (p.Cys382Ser)
c.1107T>A
n.278T>A
c.739T>A (p.Cys247Ser)
c.1024T>A (p.Cys342Ser)
c.901T>A
c.415T>A (p.Cys139Ser)
c.952T>A (p.Cys318Ser)
c.*224T>A (n.*224T>A)
c.958T>A (p.Cys320Ser)
n.322T>A
n.3555T>A
c.462T>A
c.937T>A (p.Cys313Ser)
c.*626T>A (n.*626T>A)
c.1145T>A (n.1145T>A)
c.1015T>A (p.Cys339Ser)
c.923-2521T>A (n.923-2521T>A)
c.1021T>A (p.Cys341Ser)
c.1063T>A (p.Cys355Ser)
c.604T>A (p.Cys202Ser)
5g.162149209T>CCA362182508GABRG2c.1025T>C
c.1144T>C (p.Cys382Arg)
c.1107T>C
n.278T>C
c.739T>C (p.Cys247Arg)
c.1024T>C (p.Cys342Arg)
c.901T>C
c.415T>C (p.Cys139Arg)
c.952T>C (p.Cys318Arg)
c.*224T>C (n.*224T>C)
c.958T>C (p.Cys320Arg)
n.322T>C
n.3555T>C
c.462T>C
c.937T>C (p.Cys313Arg)
c.*626T>C (n.*626T>C)
c.1145T>C (n.1145T>C)
c.1015T>C (p.Cys339Arg)
c.923-2521T>C (n.923-2521T>C)
c.1021T>C (p.Cys341Arg)
c.1063T>C (p.Cys355Arg)
c.604T>C (p.Cys202Arg)
5g.162149209T>GCA362182509GABRG2c.1025T>G
c.1144T>G (p.Cys382Gly)
c.1107T>G
n.278T>G
c.739T>G (p.Cys247Gly)
c.1024T>G (p.Cys342Gly)
c.901T>G
c.415T>G (p.Cys139Gly)
c.952T>G (p.Cys318Gly)
c.*224T>G (n.*224T>G)
c.958T>G (p.Cys320Gly)
n.322T>G
n.3555T>G
c.462T>G
c.937T>G (p.Cys313Gly)
c.*626T>G (n.*626T>G)
c.1145T>G (n.1145T>G)
c.1015T>G (p.Cys339Gly)
c.923-2521T>G (n.923-2521T>G)
c.1021T>G (p.Cys341Gly)
c.1063T>G (p.Cys355Gly)
c.604T>G (p.Cys202Gly)
5g.162149209_162149210delinsTGCA1596380266GABRG2c.1025_1026delinsTG
c.1144_1145delinsTG (p.Cys382=)
c.1107_1108delinsTG
n.278_279delinsTG
c.739_740delinsTG (p.Cys247=)
c.1024_1025delinsTG (p.Cys342=)
c.901_902delinsTG
c.415_416delinsTG (p.Cys139=)
c.952_953delinsTG (p.Cys318=)
c.*224_*225delinsTG (n.*224_*225delinsTG)
c.958_959delinsTG (p.Cys320=)
n.322_323delinsTG
n.3555_3556delinsTG
c.462_463delinsTG
c.937_938delinsTG (p.Cys313=)
c.*626_*627delinsTG (n.*626_*627delinsTG)
c.1145_1146delinsTG (n.1145_1146delinsTG)
c.1015_1016delinsTG (p.Cys339=)
c.923-2521_923-2520delinsTG (n.923-2521_923-2520delinsTG)
c.1021_1022delinsTG (p.Cys341=)
c.1063_1064delinsTG (p.Cys355=)
c.604_605delinsTG (p.Cys202=)
5g.162149210delCA16611898GABRG2c.1026del
c.1145del (p.Cys382PhefsTer?)
c.1108del
n.279del
c.740del (p.Cys247PhefsTer?)
c.1025del (p.Cys342PhefsTer?)
c.902del
c.416del (p.Cys139PhefsTer?)
c.953del (p.Cys318PhefsTer?)
c.*225del (n.*225del)
c.959del (p.Cys320PhefsTer?)
n.323del
n.3556del
c.463del
c.938del (p.Cys313PhefsTer?)
c.*627del (n.*627del)
c.1146del (n.1146del)
c.1016del (p.Cys339PhefsTer?)
c.923-2520del (n.923-2520del)
c.1022del (p.Cys341PhefsTer?)
c.1064del (p.Cys355PhefsTer?)
c.605del (p.Cys202PhefsTer?)
 ClinVar dbSNP
5g.162149210G>ACA362182510GABRG2c.1026G>A
c.1145G>A (p.Cys382Tyr)
c.1108G>A
n.279G>A
c.740G>A (p.Cys247Tyr)
c.1025G>A (p.Cys342Tyr)
c.902G>A
c.416G>A (p.Cys139Tyr)
c.953G>A (p.Cys318Tyr)
c.*225G>A (n.*225G>A)
c.959G>A (p.Cys320Tyr)
n.323G>A
n.3556G>A
c.463G>A
c.938G>A (p.Cys313Tyr)
c.*627G>A (n.*627G>A)
c.1146G>A (n.1146G>A)
c.1016G>A (p.Cys339Tyr)
c.923-2520G>A (n.923-2520G>A)
c.1022G>A (p.Cys341Tyr)
c.1064G>A (p.Cys355Tyr)
c.605G>A (p.Cys202Tyr)
 ClinVar dbSNP
5g.162149210G>CCA362182511GABRG2c.1026G>C
c.1145G>C (p.Cys382Ser)
c.1108G>C
n.279G>C
c.740G>C (p.Cys247Ser)
c.1025G>C (p.Cys342Ser)
c.902G>C
c.416G>C (p.Cys139Ser)
c.953G>C (p.Cys318Ser)
c.*225G>C (n.*225G>C)
c.959G>C (p.Cys320Ser)
n.323G>C
n.3556G>C
c.463G>C
c.938G>C (p.Cys313Ser)
c.*627G>C (n.*627G>C)
c.1146G>C (n.1146G>C)
c.1016G>C (p.Cys339Ser)
c.923-2520G>C (n.923-2520G>C)
c.1022G>C (p.Cys341Ser)
c.1064G>C (p.Cys355Ser)
c.605G>C (p.Cys202Ser)
5g.162149210G>TCA362182512GABRG2c.1026G>T
c.1145G>T (p.Cys382Phe)
c.1108G>T
n.279G>T
c.740G>T (p.Cys247Phe)
c.1025G>T (p.Cys342Phe)
c.902G>T
c.416G>T (p.Cys139Phe)
c.953G>T (p.Cys318Phe)
c.*225G>T (n.*225G>T)
c.959G>T (p.Cys320Phe)
n.323G>T
n.3556G>T
c.463G>T
c.938G>T (p.Cys313Phe)
c.*627G>T (n.*627G>T)
c.1146G>T (n.1146G>T)
c.1016G>T (p.Cys339Phe)
c.923-2520G>T (n.923-2520G>T)
c.1022G>T (p.Cys341Phe)
c.1064G>T (p.Cys355Phe)
c.605G>T (p.Cys202Phe)
5g.162149211T>ACA362182513GABRG2c.1027T>A
c.1146T>A (p.Cys382Ter)
c.1109T>A
n.280T>A
c.741T>A (p.Cys247Ter)
c.1026T>A (p.Cys342Ter)
c.903T>A
c.417T>A (p.Cys139Ter)
c.954T>A (p.Cys318Ter)
c.*226T>A (n.*226T>A)
c.960T>A (p.Cys320Ter)
n.324T>A
n.3557T>A
c.464T>A
c.939T>A (p.Cys313Ter)
c.*628T>A (n.*628T>A)
c.1147T>A (n.1147T>A)
c.1017T>A (p.Cys339Ter)
c.923-2519T>A (n.923-2519T>A)
c.1023T>A (p.Cys341Ter)
c.1065T>A (p.Cys355Ter)
c.606T>A (p.Cys202Ter)
5g.162149211T>CCA447610291GABRG2c.1027T>C
c.1146T>C (p.Cys382=)
c.1109T>C
n.280T>C
c.741T>C (p.Cys247=)
c.1026T>C (p.Cys342=)
c.903T>C
c.417T>C (p.Cys139=)
c.954T>C (p.Cys318=)
c.*226T>C (n.*226T>C)
c.960T>C (p.Cys320=)
n.324T>C
n.3557T>C
c.464T>C
c.939T>C (p.Cys313=)
c.*628T>C (n.*628T>C)
c.1147T>C (n.1147T>C)
c.1017T>C (p.Cys339=)
c.923-2519T>C (n.923-2519T>C)
c.1023T>C (p.Cys341=)
c.1065T>C (p.Cys355=)
c.606T>C (p.Cys202=)
 gnomAD v4
5g.162149211T>GCA362182514GABRG2c.1027T>G
c.1146T>G (p.Cys382Trp)
c.1109T>G
n.280T>G
c.741T>G (p.Cys247Trp)
c.1026T>G (p.Cys342Trp)
c.903T>G
c.417T>G (p.Cys139Trp)
c.954T>G (p.Cys318Trp)
c.*226T>G (n.*226T>G)
c.960T>G (p.Cys320Trp)
n.324T>G
n.3557T>G
c.464T>G
c.939T>G (p.Cys313Trp)
c.*628T>G (n.*628T>G)
c.1147T>G (n.1147T>G)
c.1017T>G (p.Cys339Trp)
c.923-2519T>G (n.923-2519T>G)
c.1023T>G (p.Cys341Trp)
c.1065T>G (p.Cys355Trp)
c.606T>G (p.Cys202Trp)
5g.162149212T>ACA362182515GABRG2c.1028T>A
c.1147T>A (p.Phe383Ile)
c.1110T>A
n.281T>A
c.742T>A (p.Phe248Ile)
c.1027T>A (p.Phe343Ile)
c.904T>A
c.418T>A (p.Phe140Ile)
c.955T>A (p.Phe319Ile)
c.*227T>A (n.*227T>A)
c.961T>A (p.Phe321Ile)
n.325T>A
n.3558T>A
c.465T>A
c.940T>A (p.Phe314Ile)
c.*629T>A (n.*629T>A)
c.1148T>A (n.1148T>A)
c.1018T>A (p.Phe340Ile)
c.923-2518T>A (n.923-2518T>A)
c.1024T>A (p.Phe342Ile)
c.1066T>A (p.Phe356Ile)
c.607T>A (p.Phe203Ile)
5g.162149212T>CCA362182517GABRG2c.1028T>C
c.1147T>C (p.Phe383Leu)
c.1110T>C
n.281T>C
c.742T>C (p.Phe248Leu)
c.1027T>C (p.Phe343Leu)
c.904T>C
c.418T>C (p.Phe140Leu)
c.955T>C (p.Phe319Leu)
c.*227T>C (n.*227T>C)
c.961T>C (p.Phe321Leu)
n.325T>C
n.3558T>C
c.465T>C
c.940T>C (p.Phe314Leu)
c.*629T>C (n.*629T>C)
c.1148T>C (n.1148T>C)
c.1018T>C (p.Phe340Leu)
c.923-2518T>C (n.923-2518T>C)
c.1024T>C (p.Phe342Leu)
c.1066T>C (p.Phe356Leu)
c.607T>C (p.Phe203Leu)
 ClinVar dbSNP
5g.162149212T>GCA362182516GABRG2c.1028T>G
c.1147T>G (p.Phe383Val)
c.1110T>G
n.281T>G
c.742T>G (p.Phe248Val)
c.1027T>G (p.Phe343Val)
c.904T>G
c.418T>G (p.Phe140Val)
c.955T>G (p.Phe319Val)
c.*227T>G (n.*227T>G)
c.961T>G (p.Phe321Val)
n.325T>G
n.3558T>G
c.465T>G
c.940T>G (p.Phe314Val)
c.*629T>G (n.*629T>G)
c.1148T>G (n.1148T>G)
c.1018T>G (p.Phe340Val)
c.923-2518T>G (n.923-2518T>G)
c.1024T>G (p.Phe342Val)
c.1066T>G (p.Phe356Val)
c.607T>G (p.Phe203Val)
5g.162149212T=CA1596380267GABRG2c.1028T=
c.1147T= (p.Phe383=)
c.1110T=
n.281T=
c.742T= (p.Phe248=)
c.1027T= (p.Phe343=)
c.904T=
c.418T= (p.Phe140=)
c.955T= (p.Phe319=)
c.*227T= (n.*227T=)
c.961T= (p.Phe321=)
n.325T=
n.3558T=
c.465T=
c.940T= (p.Phe314=)
c.*629T= (n.*629T=)
c.1148T= (n.1148T=)
c.1018T= (p.Phe340=)
c.923-2518T= (n.923-2518T=)
c.1024T= (p.Phe342=)
c.1066T= (p.Phe356=)
c.607T= (p.Phe203=)
5g.162149213T>ACA362182518GABRG2c.1029T>A
c.1148T>A (p.Phe383Tyr)
c.1111T>A
n.282T>A
c.743T>A (p.Phe248Tyr)
c.1028T>A (p.Phe343Tyr)
c.905T>A
c.419T>A (p.Phe140Tyr)
c.956T>A (p.Phe319Tyr)
c.*228T>A (n.*228T>A)
c.962T>A (p.Phe321Tyr)
n.326T>A
n.3559T>A
c.466T>A
c.941T>A (p.Phe314Tyr)
c.*630T>A (n.*630T>A)
c.1149T>A (n.1149T>A)
c.1019T>A (p.Phe340Tyr)
c.923-2517T>A (n.923-2517T>A)
c.1025T>A (p.Phe342Tyr)
c.1067T>A (p.Phe356Tyr)
c.608T>A (p.Phe203Tyr)
5g.162149213T>CCA362182519GABRG2c.1029T>C
c.1148T>C (p.Phe383Ser)
c.1111T>C
n.282T>C
c.743T>C (p.Phe248Ser)
c.1028T>C (p.Phe343Ser)
c.905T>C
c.419T>C (p.Phe140Ser)
c.956T>C (p.Phe319Ser)
c.*228T>C (n.*228T>C)
c.962T>C (p.Phe321Ser)
n.326T>C
n.3559T>C
c.466T>C
c.941T>C (p.Phe314Ser)
c.*630T>C (n.*630T>C)
c.1149T>C (n.1149T>C)
c.1019T>C (p.Phe340Ser)
c.923-2517T>C (n.923-2517T>C)
c.1025T>C (p.Phe342Ser)
c.1067T>C (p.Phe356Ser)
c.608T>C (p.Phe203Ser)
5g.162149213T>GCA362182520GABRG2c.1029T>G
c.1148T>G (p.Phe383Cys)
c.1111T>G
n.282T>G
c.743T>G (p.Phe248Cys)
c.1028T>G (p.Phe343Cys)
c.905T>G
c.419T>G (p.Phe140Cys)
c.956T>G (p.Phe319Cys)
c.*228T>G (n.*228T>G)
c.962T>G (p.Phe321Cys)
n.326T>G
n.3559T>G
c.466T>G
c.941T>G (p.Phe314Cys)
c.*630T>G (n.*630T>G)
c.1149T>G (n.1149T>G)
c.1019T>G (p.Phe340Cys)
c.923-2517T>G (n.923-2517T>G)
c.1025T>G (p.Phe342Cys)
c.1067T>G (p.Phe356Cys)
c.608T>G (p.Phe203Cys)
5g.162149214C>ACA362182521GABRG2c.1030C>A
c.1149C>A (p.Phe383Leu)
c.1112C>A
n.283C>A
c.744C>A (p.Phe248Leu)
c.1029C>A (p.Phe343Leu)
c.906C>A
c.420C>A (p.Phe140Leu)
c.957C>A (p.Phe319Leu)
c.*229C>A (n.*229C>A)
c.963C>A (p.Phe321Leu)
n.327C>A
n.3560C>A
c.467C>A
c.942C>A (p.Phe314Leu)
c.*631C>A (n.*631C>A)
c.1150C>A (n.1150C>A)
c.1020C>A (p.Phe340Leu)
c.923-2516C>A (n.923-2516C>A)
c.1026C>A (p.Phe342Leu)
c.1068C>A (p.Phe356Leu)
c.609C>A (p.Phe203Leu)
 ClinVar dbSNP
5g.162149214C=CA1596380268GABRG2c.1030C=
c.1149C= (p.Phe383=)
c.1112C=
n.283C=
c.744C= (p.Phe248=)
c.1029C= (p.Phe343=)
c.906C=
c.420C= (p.Phe140=)
c.957C= (p.Phe319=)
c.*229C= (n.*229C=)
c.963C= (p.Phe321=)
n.327C=
n.3560C=
c.467C=
c.942C= (p.Phe314=)
c.*631C= (n.*631C=)
c.1150C= (n.1150C=)
c.1020C= (p.Phe340=)
c.923-2516C= (n.923-2516C=)
c.1026C= (p.Phe342=)
c.1068C= (p.Phe356=)
c.609C= (p.Phe203=)
5g.162149214C>GCA314738GABRG2c.1030C>G
c.1149C>G (p.Phe383Leu)
c.1112C>G
n.283C>G
c.744C>G (p.Phe248Leu)
c.1029C>G (p.Phe343Leu)
c.906C>G
c.420C>G (p.Phe140Leu)
c.957C>G (p.Phe319Leu)
c.*229C>G (n.*229C>G)
c.963C>G (p.Phe321Leu)
n.327C>G
n.3560C>G
c.467C>G
c.942C>G (p.Phe314Leu)
c.*631C>G (n.*631C>G)
c.1150C>G (n.1150C>G)
c.1020C>G (p.Phe340Leu)
c.923-2516C>G (n.923-2516C>G)
c.1026C>G (p.Phe342Leu)
c.1068C>G (p.Phe356Leu)
c.609C>G (p.Phe203Leu)
 ClinVar dbSNP
5g.162149214C>TCA447610293GABRG2c.1030C>T
c.1149C>T (p.Phe383=)
c.1112C>T
n.283C>T
c.744C>T (p.Phe248=)
c.1029C>T (p.Phe343=)
c.906C>T
c.420C>T (p.Phe140=)
c.957C>T (p.Phe319=)
c.*229C>T (n.*229C>T)
c.963C>T (p.Phe321=)
n.327C>T
n.3560C>T
c.467C>T
c.942C>T (p.Phe314=)
c.*631C>T (n.*631C>T)
c.1150C>T (n.1150C>T)
c.1020C>T (p.Phe340=)
c.923-2516C>T (n.923-2516C>T)
c.1026C>T (p.Phe342=)
c.1068C>T (p.Phe356=)
c.609C>T (p.Phe203=)
5g.162149215A>CCA362182522GABRG2c.1031A>C
c.1150A>C (p.Ile384Leu)
c.1113A>C
n.284A>C
c.745A>C (p.Ile249Leu)
c.1030A>C (p.Ile344Leu)
c.907A>C
c.421A>C (p.Ile141Leu)
c.958A>C (p.Ile320Leu)
c.*230A>C (n.*230A>C)
c.964A>C (p.Ile322Leu)
n.328A>C
n.3561A>C
c.468A>C
c.943A>C (p.Ile315Leu)
c.*632A>C (n.*632A>C)
c.1151A>C (n.1151A>C)
c.1021A>C (p.Ile341Leu)
c.923-2515A>C (n.923-2515A>C)
c.1027A>C (p.Ile343Leu)
c.1069A>C (p.Ile357Leu)
c.610A>C (p.Ile204Leu)
5g.162149215A>GCA362182523GABRG2c.1031A>G
c.1150A>G (p.Ile384Val)
c.1113A>G
n.284A>G
c.745A>G (p.Ile249Val)
c.1030A>G (p.Ile344Val)
c.907A>G
c.421A>G (p.Ile141Val)
c.958A>G (p.Ile320Val)
c.*230A>G (n.*230A>G)
c.964A>G (p.Ile322Val)
n.328A>G
n.3561A>G
c.468A>G
c.943A>G (p.Ile315Val)
c.*632A>G (n.*632A>G)
c.1151A>G (n.1151A>G)
c.1021A>G (p.Ile341Val)
c.923-2515A>G (n.923-2515A>G)
c.1027A>G (p.Ile343Val)
c.1069A>G (p.Ile357Val)
c.610A>G (p.Ile204Val)
5g.162149215A>TCA362182524GABRG2c.1031A>T
c.1150A>T (p.Ile384Phe)
c.1113A>T
n.284A>T
c.745A>T (p.Ile249Phe)
c.1030A>T (p.Ile344Phe)
c.907A>T
c.421A>T (p.Ile141Phe)
c.958A>T (p.Ile320Phe)
c.*230A>T (n.*230A>T)
c.964A>T (p.Ile322Phe)
n.328A>T
n.3561A>T
c.468A>T
c.943A>T (p.Ile315Phe)
c.*632A>T (n.*632A>T)
c.1151A>T (n.1151A>T)
c.1021A>T (p.Ile341Phe)
c.923-2515A>T (n.923-2515A>T)
c.1027A>T (p.Ile343Phe)
c.1069A>T (p.Ile357Phe)
c.610A>T (p.Ile204Phe)
5g.162149216T>ACA362182525GABRG2c.1032T>A
c.1151T>A (p.Ile384Asn)
c.1114T>A
n.285T>A
c.746T>A (p.Ile249Asn)
c.1031T>A (p.Ile344Asn)
c.908T>A
c.422T>A (p.Ile141Asn)
c.959T>A (p.Ile320Asn)
c.*231T>A (n.*231T>A)
c.965T>A (p.Ile322Asn)
n.329T>A
n.3562T>A
c.469T>A
c.944T>A (p.Ile315Asn)
c.*633T>A (n.*633T>A)
c.1152T>A (n.1152T>A)
c.1022T>A (p.Ile341Asn)
c.923-2514T>A (n.923-2514T>A)
c.1028T>A (p.Ile343Asn)
c.1070T>A (p.Ile357Asn)
c.611T>A (p.Ile204Asn)
5g.162149216T>CCA362182526GABRG2c.1032T>C
c.1151T>C (p.Ile384Thr)
c.1114T>C
n.285T>C
c.746T>C (p.Ile249Thr)
c.1031T>C (p.Ile344Thr)
c.908T>C
c.422T>C (p.Ile141Thr)
c.959T>C (p.Ile320Thr)
c.*231T>C (n.*231T>C)
c.965T>C (p.Ile322Thr)
n.329T>C
n.3562T>C
c.469T>C
c.944T>C (p.Ile315Thr)
c.*633T>C (n.*633T>C)
c.1152T>C (n.1152T>C)
c.1022T>C (p.Ile341Thr)
c.923-2514T>C (n.923-2514T>C)
c.1028T>C (p.Ile343Thr)
c.1070T>C (p.Ile357Thr)
c.611T>C (p.Ile204Thr)
5g.162149216T>GCA362182527GABRG2c.1032T>G
c.1151T>G (p.Ile384Ser)
c.1114T>G
n.285T>G
c.746T>G (p.Ile249Ser)
c.1031T>G (p.Ile344Ser)
c.908T>G
c.422T>G (p.Ile141Ser)
c.959T>G (p.Ile320Ser)
c.*231T>G (n.*231T>G)
c.965T>G (p.Ile322Ser)
n.329T>G
n.3562T>G
c.469T>G
c.944T>G (p.Ile315Ser)
c.*633T>G (n.*633T>G)
c.1152T>G (n.1152T>G)
c.1022T>G (p.Ile341Ser)
c.923-2514T>G (n.923-2514T>G)
c.1028T>G (p.Ile343Ser)
c.1070T>G (p.Ile357Ser)
c.611T>G (p.Ile204Ser)
5g.162149217C>ACA447610294GABRG2c.1033C>A
c.1152C>A (p.Ile384=)
c.1115C>A
n.286C>A
c.747C>A (p.Ile249=)
c.1032C>A (p.Ile344=)
c.909C>A
c.423C>A (p.Ile141=)
c.960C>A (p.Ile320=)
c.*232C>A (n.*232C>A)
c.966C>A (p.Ile322=)
n.330C>A
n.3563C>A
c.470C>A
c.945C>A (p.Ile315=)
c.*634C>A (n.*634C>A)
c.1153C>A (n.1153C>A)
c.1023C>A (p.Ile341=)
c.923-2513C>A (n.923-2513C>A)
c.1029C>A (p.Ile343=)
c.1071C>A (p.Ile357=)
c.612C>A (p.Ile204=)
5g.162149217C>GCA362182528GABRG2c.1033C>G
c.1152C>G (p.Ile384Met)
c.1115C>G
n.286C>G
c.747C>G (p.Ile249Met)
c.1032C>G (p.Ile344Met)
c.909C>G
c.423C>G (p.Ile141Met)
c.960C>G (p.Ile320Met)
c.*232C>G (n.*232C>G)
c.966C>G (p.Ile322Met)
n.330C>G
n.3563C>G
c.470C>G
c.945C>G (p.Ile315Met)
c.*634C>G (n.*634C>G)
c.1153C>G (n.1153C>G)
c.1023C>G (p.Ile341Met)
c.923-2513C>G (n.923-2513C>G)
c.1029C>G (p.Ile343Met)
c.1071C>G (p.Ile357Met)
c.612C>G (p.Ile204Met)
 COSMIC
5g.162149217C>TCA447610295GABRG2c.1033C>T
c.1152C>T (p.Ile384=)
c.1115C>T
n.286C>T
c.747C>T (p.Ile249=)
c.1032C>T (p.Ile344=)
c.909C>T
c.423C>T (p.Ile141=)
c.960C>T (p.Ile320=)
c.*232C>T (n.*232C>T)
c.966C>T (p.Ile322=)
n.330C>T
n.3563C>T
c.470C>T
c.945C>T (p.Ile315=)
c.*634C>T (n.*634C>T)
c.1153C>T (n.1153C>T)
c.1023C>T (p.Ile341=)
c.923-2513C>T (n.923-2513C>T)
c.1029C>T (p.Ile343=)
c.1071C>T (p.Ile357=)
c.612C>T (p.Ile204=)
5g.162149217_162149218delinsCTCA1596380269GABRG2c.1033_1034delinsCT
c.1152_1153delinsCT (p.Ile384=)
c.1115_1116delinsCT
n.286_287delinsCT
c.747_748delinsCT (p.Ile249=)
c.1032_1033delinsCT (p.Ile344=)
c.909_910delinsCT
c.423_424delinsCT (p.Ile141=)
c.960_961delinsCT (p.Ile320=)
c.*232_*233delinsCT (n.*232_*233delinsCT)
c.966_967delinsCT (p.Ile322=)
n.330_331delinsCT
n.3563_3564delinsCT
c.470_471delinsCT
c.945_946delinsCT (p.Ile315=)
c.*634_*635delinsCT (n.*634_*635delinsCT)
c.1153_1154delinsCT (n.1153_1154delinsCT)
c.1023_1024delinsCT (p.Ile341=)
c.923-2513_923-2512delinsCT (n.923-2513_923-2512delinsCT)
c.1029_1030delinsCT (p.Ile343=)
c.1071_1072delinsCT (p.Ile357=)
c.612_613delinsCT (p.Ile204=)
5g.162149218T>ACA362182531GABRG2c.1034T>A
c.1153T>A (p.Phe385Ile)
c.1116T>A
n.287T>A
c.748T>A (p.Phe250Ile)
c.1033T>A (p.Phe345Ile)
c.910T>A
c.424T>A (p.Phe142Ile)
c.961T>A (p.Phe321Ile)
c.*233T>A (n.*233T>A)
c.967T>A (p.Phe323Ile)
n.331T>A
n.3564T>A
c.471T>A
c.946T>A (p.Phe316Ile)
c.*635T>A (n.*635T>A)
c.1154T>A (n.1154T>A)
c.1024T>A (p.Phe342Ile)
c.923-2512T>A (n.923-2512T>A)
c.1030T>A (p.Phe344Ile)
c.1072T>A (p.Phe358Ile)
c.613T>A (p.Phe205Ile)
5g.162149218T>CCA362182529GABRG2c.1034T>C
c.1153T>C (p.Phe385Leu)
c.1116T>C
n.287T>C
c.748T>C (p.Phe250Leu)
c.1033T>C (p.Phe345Leu)
c.910T>C
c.424T>C (p.Phe142Leu)
c.961T>C (p.Phe321Leu)
c.*233T>C (n.*233T>C)
c.967T>C (p.Phe323Leu)
n.331T>C
n.3564T>C
c.471T>C
c.946T>C (p.Phe316Leu)
c.*635T>C (n.*635T>C)
c.1154T>C (n.1154T>C)
c.1024T>C (p.Phe342Leu)
c.923-2512T>C (n.923-2512T>C)
c.1030T>C (p.Phe344Leu)
c.1072T>C (p.Phe358Leu)
c.613T>C (p.Phe205Leu)
5g.162149218T>GCA362182530GABRG2c.1034T>G
c.1153T>G (p.Phe385Val)
c.1116T>G
n.287T>G
c.748T>G (p.Phe250Val)
c.1033T>G (p.Phe345Val)
c.910T>G
c.424T>G (p.Phe142Val)
c.961T>G (p.Phe321Val)
c.*233T>G (n.*233T>G)
c.967T>G (p.Phe323Val)
n.331T>G
n.3564T>G
c.471T>G
c.946T>G (p.Phe316Val)
c.*635T>G (n.*635T>G)
c.1154T>G (n.1154T>G)
c.1024T>G (p.Phe342Val)
c.923-2512T>G (n.923-2512T>G)
c.1030T>G (p.Phe344Val)
c.1072T>G (p.Phe358Val)
c.613T>G (p.Phe205Val)
5g.162149220dupCA2676329345GABRG2c.1036dup
c.1155dup (p.Val386CysfsTer26)
c.1118dup
n.289dup
c.750dup (p.Val251CysfsTer26)
c.1035dup (p.Val346CysfsTer26)
c.912dup
c.426dup (p.Val143CysfsTer26)
c.963dup (p.Val322CysfsTer26)
c.*235dup (n.*235dup)
c.969dup (p.Val324CysfsTer26)
n.333dup
n.3566dup
c.473dup
c.948dup (p.Val317CysfsTer26)
c.*637dup (n.*637dup)
c.1156dup (n.1156dup)
c.1026dup (p.Val343CysfsTer26)
c.923-2510dup (n.923-2510dup)
c.1032dup (p.Val345CysfsTer26)
c.1074dup (p.Val359CysfsTer26)
c.615dup (p.Val206CysfsTer26)
 gnomAD v4
5g.162149220delCA915942711GABRG2c.1036del
c.1155del (p.Phe385LeufsTer?)
c.1118del
n.289del
c.750del (p.Phe250LeufsTer?)
c.1035del (p.Phe345LeufsTer?)
c.912del
c.426del (p.Phe142LeufsTer?)
c.963del (p.Phe321LeufsTer?)
c.*235del (n.*235del)
c.969del (p.Phe323LeufsTer?)
n.333del
n.3566del
c.473del
c.948del (p.Phe316LeufsTer?)
c.*637del (n.*637del)
c.1156del (n.1156del)
c.1026del (p.Phe342LeufsTer?)
c.923-2510del (n.923-2510del)
c.1032del (p.Phe344LeufsTer?)
c.1074del (p.Phe358LeufsTer?)
c.615del (p.Phe205LeufsTer?)
 ClinVar dbSNP
5g.162149219T>ACA362182532GABRG2c.1035T>A
c.1154T>A (p.Phe385Tyr)
c.1117T>A
n.288T>A
c.749T>A (p.Phe250Tyr)
c.1034T>A (p.Phe345Tyr)
c.911T>A
c.425T>A (p.Phe142Tyr)
c.962T>A (p.Phe321Tyr)
c.*234T>A (n.*234T>A)
c.968T>A (p.Phe323Tyr)
n.332T>A
n.3565T>A
c.472T>A
c.947T>A (p.Phe316Tyr)
c.*636T>A (n.*636T>A)
c.1155T>A (n.1155T>A)
c.1025T>A (p.Phe342Tyr)
c.923-2511T>A (n.923-2511T>A)
c.1031T>A (p.Phe344Tyr)
c.1073T>A (p.Phe358Tyr)
c.614T>A (p.Phe205Tyr)
5g.162149219T>CCA362182533GABRG2c.1035T>C
c.1154T>C (p.Phe385Ser)
c.1117T>C
n.288T>C
c.749T>C (p.Phe250Ser)
c.1034T>C (p.Phe345Ser)
c.911T>C
c.425T>C (p.Phe142Ser)
c.962T>C (p.Phe321Ser)
c.*234T>C (n.*234T>C)
c.968T>C (p.Phe323Ser)
n.332T>C
n.3565T>C
c.472T>C
c.947T>C (p.Phe316Ser)
c.*636T>C (n.*636T>C)
c.1155T>C (n.1155T>C)
c.1025T>C (p.Phe342Ser)
c.923-2511T>C (n.923-2511T>C)
c.1031T>C (p.Phe344Ser)
c.1073T>C (p.Phe358Ser)
c.614T>C (p.Phe205Ser)
5g.162149219T>GCA362182534GABRG2c.1035T>G
c.1154T>G (p.Phe385Cys)
c.1117T>G
n.288T>G
c.749T>G (p.Phe250Cys)
c.1034T>G (p.Phe345Cys)
c.911T>G
c.425T>G (p.Phe142Cys)
c.962T>G (p.Phe321Cys)
c.*234T>G (n.*234T>G)
c.968T>G (p.Phe323Cys)
n.332T>G
n.3565T>G
c.472T>G
c.947T>G (p.Phe316Cys)
c.*636T>G (n.*636T>G)
c.1155T>G (n.1155T>G)
c.1025T>G (p.Phe342Cys)
c.923-2511T>G (n.923-2511T>G)
c.1031T>G (p.Phe344Cys)
c.1073T>G (p.Phe358Cys)
c.614T>G (p.Phe205Cys)
5g.162149220T>ACA362182535GABRG2c.1036T>A
c.1155T>A (p.Phe385Leu)
c.1118T>A
n.289T>A
c.750T>A (p.Phe250Leu)
c.1035T>A (p.Phe345Leu)
c.912T>A
c.426T>A (p.Phe142Leu)
c.963T>A (p.Phe321Leu)
c.*235T>A (n.*235T>A)
c.969T>A (p.Phe323Leu)
n.333T>A
n.3566T>A
c.473T>A
c.948T>A (p.Phe316Leu)
c.*637T>A (n.*637T>A)
c.1156T>A (n.1156T>A)
c.1026T>A (p.Phe342Leu)
c.923-2510T>A (n.923-2510T>A)
c.1032T>A (p.Phe344Leu)
c.1074T>A (p.Phe358Leu)
c.615T>A (p.Phe205Leu)
5g.162149220T>CCA447610296GABRG2c.1036T>C
c.1155T>C (p.Phe385=)
c.1118T>C
n.289T>C
c.750T>C (p.Phe250=)
c.1035T>C (p.Phe345=)
c.912T>C
c.426T>C (p.Phe142=)
c.963T>C (p.Phe321=)
c.*235T>C (n.*235T>C)
c.969T>C (p.Phe323=)
n.333T>C
n.3566T>C
c.473T>C
c.948T>C (p.Phe316=)
c.*637T>C (n.*637T>C)
c.1156T>C (n.1156T>C)
c.1026T>C (p.Phe342=)
c.923-2510T>C (n.923-2510T>C)
c.1032T>C (p.Phe344=)
c.1074T>C (p.Phe358=)
c.615T>C (p.Phe205=)
5g.162149220T>GCA362182536GABRG2c.1036T>G
c.1155T>G (p.Phe385Leu)
c.1118T>G
n.289T>G
c.750T>G (p.Phe250Leu)
c.1035T>G (p.Phe345Leu)
c.912T>G
c.426T>G (p.Phe142Leu)
c.963T>G (p.Phe321Leu)
c.*235T>G (n.*235T>G)
c.969T>G (p.Phe323Leu)
n.333T>G
n.3566T>G
c.473T>G
c.948T>G (p.Phe316Leu)
c.*637T>G (n.*637T>G)
c.1156T>G (n.1156T>G)
c.1026T>G (p.Phe342Leu)
c.923-2510T>G (n.923-2510T>G)
c.1032T>G (p.Phe344Leu)
c.1074T>G (p.Phe358Leu)
c.615T>G (p.Phe205Leu)
5g.162149221G>ACA362182537GABRG2c.1037G>A
c.1156G>A (p.Val386Ile)
c.1119G>A
n.290G>A
c.751G>A (p.Val251Ile)
c.1036G>A (p.Val346Ile)
c.913G>A
c.427G>A (p.Val143Ile)
c.964G>A (p.Val322Ile)
c.*236G>A (n.*236G>A)
c.970G>A (p.Val324Ile)
n.334G>A
n.3567G>A
c.474G>A
c.949G>A (p.Val317Ile)
c.*638G>A (n.*638G>A)
c.1157G>A (n.1157G>A)
c.1027G>A (p.Val343Ile)
c.923-2509G>A (n.923-2509G>A)
c.1033G>A (p.Val345Ile)
c.1075G>A (p.Val359Ile)
c.616G>A (p.Val206Ile)
5g.162149221G>CCA362182538GABRG2c.1037G>C
c.1156G>C (p.Val386Leu)
c.1119G>C
n.290G>C
c.751G>C (p.Val251Leu)
c.1036G>C (p.Val346Leu)
c.913G>C
c.427G>C (p.Val143Leu)
c.964G>C (p.Val322Leu)
c.*236G>C (n.*236G>C)
c.970G>C (p.Val324Leu)
n.334G>C
n.3567G>C
c.474G>C
c.949G>C (p.Val317Leu)
c.*638G>C (n.*638G>C)
c.1157G>C (n.1157G>C)
c.1027G>C (p.Val343Leu)
c.923-2509G>C (n.923-2509G>C)
c.1033G>C (p.Val345Leu)
c.1075G>C (p.Val359Leu)
c.616G>C (p.Val206Leu)
5g.162149221G>TCA362182539GABRG2c.1037G>T
c.1156G>T (p.Val386Phe)
c.1119G>T
n.290G>T
c.751G>T (p.Val251Phe)
c.1036G>T (p.Val346Phe)
c.913G>T
c.427G>T (p.Val143Phe)
c.964G>T (p.Val322Phe)
c.*236G>T (n.*236G>T)
c.970G>T (p.Val324Phe)
n.334G>T
n.3567G>T
c.474G>T
c.949G>T (p.Val317Phe)
c.*638G>T (n.*638G>T)
c.1157G>T (n.1157G>T)
c.1027G>T (p.Val343Phe)
c.923-2509G>T (n.923-2509G>T)
c.1033G>T (p.Val345Phe)
c.1075G>T (p.Val359Phe)
c.616G>T (p.Val206Phe)
 ClinVar
5g.162149222T>ACA362182540GABRG2c.1038T>A
c.1157T>A (p.Val386Asp)
c.1120T>A
n.291T>A
c.752T>A (p.Val251Asp)
c.1037T>A (p.Val346Asp)
c.914T>A
c.428T>A (p.Val143Asp)
c.965T>A (p.Val322Asp)
c.*237T>A (n.*237T>A)
c.971T>A (p.Val324Asp)
n.335T>A
n.3568T>A
c.475T>A
c.950T>A (p.Val317Asp)
c.*639T>A (n.*639T>A)
c.1158T>A (n.1158T>A)
c.1028T>A (p.Val343Asp)
c.923-2508T>A (n.923-2508T>A)
c.1034T>A (p.Val345Asp)
c.1076T>A (p.Val359Asp)
c.617T>A (p.Val206Asp)
5g.162149222T>CCA362182541GABRG2c.1038T>C
c.1157T>C (p.Val386Ala)
c.1120T>C
n.291T>C
c.752T>C (p.Val251Ala)
c.1037T>C (p.Val346Ala)
c.914T>C
c.428T>C (p.Val143Ala)
c.965T>C (p.Val322Ala)
c.*237T>C (n.*237T>C)
c.971T>C (p.Val324Ala)
n.335T>C
n.3568T>C
c.475T>C
c.950T>C (p.Val317Ala)
c.*639T>C (n.*639T>C)
c.1158T>C (n.1158T>C)
c.1028T>C (p.Val343Ala)
c.923-2508T>C (n.923-2508T>C)
c.1034T>C (p.Val345Ala)
c.1076T>C (p.Val359Ala)
c.617T>C (p.Val206Ala)
5g.162149222T>GCA362182542GABRG2c.1038T>G
c.1157T>G (p.Val386Gly)
c.1120T>G
n.291T>G
c.752T>G (p.Val251Gly)
c.1037T>G (p.Val346Gly)
c.914T>G
c.428T>G (p.Val143Gly)
c.965T>G (p.Val322Gly)
c.*237T>G (n.*237T>G)
c.971T>G (p.Val324Gly)
n.335T>G
n.3568T>G
c.475T>G
c.950T>G (p.Val317Gly)
c.*639T>G (n.*639T>G)
c.1158T>G (n.1158T>G)
c.1028T>G (p.Val343Gly)
c.923-2508T>G (n.923-2508T>G)
c.1034T>G (p.Val345Gly)
c.1076T>G (p.Val359Gly)
c.617T>G (p.Val206Gly)
 ClinVar
5g.162149223C>ACA447610297GABRG2c.1039C>A
c.1158C>A (p.Val386=)
c.1121C>A
n.292C>A
c.753C>A (p.Val251=)
c.1038C>A (p.Val346=)
c.915C>A
c.429C>A (p.Val143=)
c.966C>A (p.Val322=)
c.*238C>A (n.*238C>A)
c.972C>A (p.Val324=)
n.336C>A
n.3569C>A
c.476C>A
c.951C>A (p.Val317=)
c.*640C>A (n.*640C>A)
c.1159C>A (n.1159C>A)
c.1029C>A (p.Val343=)
c.923-2507C>A (n.923-2507C>A)
c.1035C>A (p.Val345=)
c.1077C>A (p.Val359=)
c.618C>A (p.Val206=)
5g.162149223C>GCA447610298GABRG2c.1039C>G
c.1158C>G (p.Val386=)
c.1121C>G
n.292C>G
c.753C>G (p.Val251=)
c.1038C>G (p.Val346=)
c.915C>G
c.429C>G (p.Val143=)
c.966C>G (p.Val322=)
c.*238C>G (n.*238C>G)
c.972C>G (p.Val324=)
n.336C>G
n.3569C>G
c.476C>G
c.951C>G (p.Val317=)
c.*640C>G (n.*640C>G)
c.1159C>G (n.1159C>G)
c.1029C>G (p.Val343=)
c.923-2507C>G (n.923-2507C>G)
c.1035C>G (p.Val345=)
c.1077C>G (p.Val359=)
c.618C>G (p.Val206=)
5g.162149223C>TCA447610299GABRG2c.1039C>T
c.1158C>T (p.Val386=)
c.1121C>T
n.292C>T
c.753C>T (p.Val251=)
c.1038C>T (p.Val346=)
c.915C>T
c.429C>T (p.Val143=)
c.966C>T (p.Val322=)
c.*238C>T (n.*238C>T)
c.972C>T (p.Val324=)
n.336C>T
n.3569C>T
c.476C>T
c.951C>T (p.Val317=)
c.*640C>T (n.*640C>T)
c.1159C>T (n.1159C>T)
c.1029C>T (p.Val343=)
c.923-2507C>T (n.923-2507C>T)
c.1035C>T (p.Val345=)
c.1077C>T (p.Val359=)
c.618C>T (p.Val206=)
5g.162149224T>ACA362182544GABRG2c.1040T>A
c.1159T>A (p.Phe387Ile)
c.1122T>A
n.293T>A
c.754T>A (p.Phe252Ile)
c.1039T>A (p.Phe347Ile)
c.916T>A
c.430T>A (p.Phe144Ile)
c.967T>A (p.Phe323Ile)
c.*239T>A (n.*239T>A)
c.973T>A (p.Phe325Ile)
n.337T>A
n.3570T>A
c.477T>A
c.952T>A (p.Phe318Ile)
c.*641T>A (n.*641T>A)
c.1160T>A (n.1160T>A)
c.1030T>A (p.Phe344Ile)
c.923-2506T>A (n.923-2506T>A)
c.1036T>A (p.Phe346Ile)
c.1078T>A (p.Phe360Ile)
c.619T>A (p.Phe207Ile)
 gnomAD v4
5g.162149224T>CCA362182545GABRG2c.1040T>C
c.1159T>C (p.Phe387Leu)
c.1122T>C
n.293T>C
c.754T>C (p.Phe252Leu)
c.1039T>C (p.Phe347Leu)
c.916T>C
c.430T>C (p.Phe144Leu)
c.967T>C (p.Phe323Leu)
c.*239T>C (n.*239T>C)
c.973T>C (p.Phe325Leu)
n.337T>C
n.3570T>C
c.477T>C
c.952T>C (p.Phe318Leu)
c.*641T>C (n.*641T>C)
c.1160T>C (n.1160T>C)
c.1030T>C (p.Phe344Leu)
c.923-2506T>C (n.923-2506T>C)
c.1036T>C (p.Phe346Leu)
c.1078T>C (p.Phe360Leu)
c.619T>C (p.Phe207Leu)
5g.162149224T>GCA362182543GABRG2c.1040T>G
c.1159T>G (p.Phe387Val)
c.1122T>G
n.293T>G
c.754T>G (p.Phe252Val)
c.1039T>G (p.Phe347Val)
c.916T>G
c.430T>G (p.Phe144Val)
c.967T>G (p.Phe323Val)
c.*239T>G (n.*239T>G)
c.973T>G (p.Phe325Val)
n.337T>G
n.3570T>G
c.477T>G
c.952T>G (p.Phe318Val)
c.*641T>G (n.*641T>G)
c.1160T>G (n.1160T>G)
c.1030T>G (p.Phe344Val)
c.923-2506T>G (n.923-2506T>G)
c.1036T>G (p.Phe346Val)
c.1078T>G (p.Phe360Val)
c.619T>G (p.Phe207Val)
 COSMIC
5g.162149225T>ACA362182547GABRG2c.1041T>A
c.1160T>A (p.Phe387Tyr)
c.1123T>A
n.294T>A
c.755T>A (p.Phe252Tyr)
c.1040T>A (p.Phe347Tyr)
c.917T>A
c.431T>A (p.Phe144Tyr)
c.968T>A (p.Phe323Tyr)
c.*240T>A (n.*240T>A)
c.974T>A (p.Phe325Tyr)
n.338T>A
n.3571T>A
c.478T>A
c.953T>A (p.Phe318Tyr)
c.*642T>A (n.*642T>A)
c.1161T>A (n.1161T>A)
c.1031T>A (p.Phe344Tyr)
c.923-2505T>A (n.923-2505T>A)
c.1037T>A (p.Phe346Tyr)
c.1079T>A (p.Phe360Tyr)
c.620T>A (p.Phe207Tyr)
5g.162149225T>CCA362182546GABRG2c.1041T>C
c.1160T>C (p.Phe387Ser)
c.1123T>C
n.294T>C
c.755T>C (p.Phe252Ser)
c.1040T>C (p.Phe347Ser)
c.917T>C
c.431T>C (p.Phe144Ser)
c.968T>C (p.Phe323Ser)
c.*240T>C (n.*240T>C)
c.974T>C (p.Phe325Ser)
n.338T>C
n.3571T>C
c.478T>C
c.953T>C (p.Phe318Ser)
c.*642T>C (n.*642T>C)
c.1161T>C (n.1161T>C)
c.1031T>C (p.Phe344Ser)
c.923-2505T>C (n.923-2505T>C)
c.1037T>C (p.Phe346Ser)
c.1079T>C (p.Phe360Ser)
c.620T>C (p.Phe207Ser)
5g.162149225T>GCA362182548GABRG2c.1041T>G
c.1160T>G (p.Phe387Cys)
c.1123T>G
n.294T>G
c.755T>G (p.Phe252Cys)
c.1040T>G (p.Phe347Cys)
c.917T>G
c.431T>G (p.Phe144Cys)
c.968T>G (p.Phe323Cys)
c.*240T>G (n.*240T>G)
c.974T>G (p.Phe325Cys)
n.338T>G
n.3571T>G
c.478T>G
c.953T>G (p.Phe318Cys)
c.*642T>G (n.*642T>G)
c.1161T>G (n.1161T>G)
c.1031T>G (p.Phe344Cys)
c.923-2505T>G (n.923-2505T>G)
c.1037T>G (p.Phe346Cys)
c.1079T>G (p.Phe360Cys)
c.620T>G (p.Phe207Cys)

Number of alleles fetched