Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1804420T>ACA415404085GNB1c.390A>T (p.Thr130=)
c.129A>T (p.Thr43=)
c.429A>T (p.Thr143=)
c.297A>T (p.Thr99=)
n.1033A>T
1g.1804420T>CCA415404086GNB1c.390A>G (p.Thr130=)
c.129A>G (p.Thr43=)
c.429A>G (p.Thr143=)
c.297A>G (p.Thr99=)
n.1033A>G
1g.1804420T>GCA415404087GNB1c.390A>C (p.Thr130=)
c.129A>C (p.Thr43=)
c.429A>C (p.Thr143=)
c.297A>C (p.Thr99=)
n.1033A>C
1g.1804421G>ACA337914082GNB1c.389C>T (p.Thr130Ile)
c.128C>T (p.Thr43Ile)
c.428C>T (p.Thr143Ile)
c.296C>T (p.Thr99Ile)
n.1032C>T
1g.1804421G>CCA337914085GNB1c.389C>G (p.Thr130Arg)
c.128C>G (p.Thr43Arg)
c.428C>G (p.Thr143Arg)
c.296C>G (p.Thr99Arg)
n.1032C>G
gnomAD v4
1g.1804421G>TCA337914088GNB1c.389C>A (p.Thr130Lys)
c.128C>A (p.Thr43Lys)
c.428C>A (p.Thr143Lys)
c.296C>A (p.Thr99Lys)
n.1032C>A
1g.1804422T>ACA337914094GNB1c.388A>T (p.Thr130Ser)
c.127A>T (p.Thr43Ser)
c.427A>T (p.Thr143Ser)
c.295A>T (p.Thr99Ser)
n.1031A>T
1g.1804422T>CCA337914098GNB1c.388A>G (p.Thr130Ala)
c.127A>G (p.Thr43Ala)
c.427A>G (p.Thr143Ala)
c.295A>G (p.Thr99Ala)
n.1031A>G
1g.1804422T>GCA337914103GNB1c.388A>C (p.Thr130Pro)
c.127A>C (p.Thr43Pro)
c.427A>C (p.Thr143Pro)
c.295A>C (p.Thr99Pro)
n.1031A>C
1g.1804423G>ACA415404089GNB1c.387C>T (p.His129=)
c.126C>T (p.His42=)
c.426C>T (p.His142=)
c.294C>T (p.His98=)
n.1030C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1804423G>CCA337914112GNB1c.387C>G (p.His129Gln)
c.126C>G (p.His42Gln)
c.426C>G (p.His142Gln)
c.294C>G (p.His98Gln)
n.1030C>G
1g.1804423G=CA1149323310GNB1c.387C= (p.His129=)
c.126C= (p.His42=)
c.426C= (p.His142=)
c.294C= (p.His98=)
n.1030C=
1g.1804423G>TCA337914114GNB1c.387C>A (p.His129Gln)
c.126C>A (p.His42Gln)
c.426C>A (p.His142Gln)
c.294C>A (p.His98Gln)
n.1030C>A
1g.1804424T>ACA337914125GNB1c.386A>T (p.His129Leu)
c.125A>T (p.His42Leu)
c.425A>T (p.His142Leu)
c.293A>T (p.His98Leu)
n.1029A>T
1g.1804424T>CCA337914122GNB1c.386A>G (p.His129Arg)
c.125A>G (p.His42Arg)
c.425A>G (p.His142Arg)
c.293A>G (p.His98Arg)
n.1029A>G
1g.1804424T>GCA337914119GNB1c.386A>C (p.His129Pro)
c.125A>C (p.His42Pro)
c.425A>C (p.His142Pro)
c.293A>C (p.His98Pro)
n.1029A>C
1g.1804425G>ACA337914129GNB1c.385C>T (p.His129Tyr)
c.124C>T (p.His42Tyr)
c.424C>T (p.His142Tyr)
c.292C>T (p.His98Tyr)
n.1028C>T
1g.1804425G>CCA337914131GNB1c.385C>G (p.His129Asp)
c.124C>G (p.His42Asp)
c.424C>G (p.His142Asp)
c.292C>G (p.His98Asp)
n.1028C>G
1g.1804425G>TCA337914135GNB1c.385C>A (p.His129Asn)
c.124C>A (p.His42Asn)
c.424C>A (p.His142Asn)
c.292C>A (p.His98Asn)
n.1028C>A
gnomAD v4
1g.1804426T>ACA415404092GNB1c.384A>T (p.Gly128=)
c.123A>T (p.Gly41=)
c.423A>T (p.Gly141=)
c.291A>T (p.Gly97=)
n.1027A>T
1g.1804426T>CCA532042GNB1c.384A>G (p.Gly128=)
c.123A>G (p.Gly41=)
c.423A>G (p.Gly141=)
c.291A>G (p.Gly97=)
n.1027A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1804426T>GCA415404091GNB1c.384A>C (p.Gly128=)
c.123A>C (p.Gly41=)
c.423A>C (p.Gly141=)
c.291A>C (p.Gly97=)
n.1027A>C
1g.1804426T=CA1149323314GNB1c.384A= (p.Gly128=)
c.123A= (p.Gly41=)
c.423A= (p.Gly141=)
c.291A= (p.Gly97=)
n.1027A=
1g.1804427C>ACA337914144GNB1c.383G>T (p.Gly128Val)
c.122G>T (p.Gly41Val)
c.422G>T (p.Gly141Val)
c.290G>T (p.Gly97Val)
n.1026G>T
1g.1804427C>GCA337914147GNB1c.383G>C (p.Gly128Ala)
c.122G>C (p.Gly41Ala)
c.422G>C (p.Gly141Ala)
c.290G>C (p.Gly97Ala)
n.1026G>C
1g.1804427C>TCA337914150GNB1c.383G>A (p.Gly128Glu)
c.122G>A (p.Gly41Glu)
c.422G>A (p.Gly141Glu)
c.290G>A (p.Gly97Glu)
n.1026G>A
1g.1804428C>ACA337914156GNB1c.382G>T (p.Gly128Ter)
c.121G>T (p.Gly41Ter)
c.421G>T (p.Gly141Ter)
c.289G>T (p.Gly97Ter)
n.1025G>T
1g.1804428C>GCA337914159GNB1c.382G>C (p.Gly128Arg)
c.121G>C (p.Gly41Arg)
c.421G>C (p.Gly141Arg)
c.289G>C (p.Gly97Arg)
n.1025G>C
1g.1804428C>TCA337914162GNB1c.382G>A (p.Gly128Arg)
c.121G>A (p.Gly41Arg)
c.421G>A (p.Gly141Arg)
c.289G>A (p.Gly97Arg)
n.1025G>A
1g.1804429T>ACA415404094GNB1c.381A>T (p.Ala127=)
c.120A>T (p.Ala40=)
c.420A>T (p.Ala140=)
c.288A>T (p.Ala96=)
n.1024A>T
1g.1804429T>CCA415404095GNB1c.381A>G (p.Ala127=)
c.120A>G (p.Ala40=)
c.420A>G (p.Ala140=)
c.288A>G (p.Ala96=)
n.1024A>G
gnomAD v4
1g.1804429T>GCA415404096GNB1c.381A>C (p.Ala127=)
c.120A>C (p.Ala40=)
c.420A>C (p.Ala140=)
c.288A>C (p.Ala96=)
n.1024A>C
1g.1804430G>ACA337914166GNB1c.380C>T (p.Ala127Val)
c.119C>T (p.Ala40Val)
c.419C>T (p.Ala140Val)
c.287C>T (p.Ala96Val)
n.1023C>T
dbSNP gnomAD v2 gnomAD v4
1g.1804430G>CCA337914167GNB1c.380C>G (p.Ala127Gly)
c.119C>G (p.Ala40Gly)
c.419C>G (p.Ala140Gly)
c.287C>G (p.Ala96Gly)
n.1023C>G
1g.1804430G=CA1149323318GNB1c.380C= (p.Ala127=)
c.119C= (p.Ala40=)
c.419C= (p.Ala140=)
c.287C= (p.Ala96=)
n.1023C=
1g.1804430G>TCA337914168GNB1c.380C>A (p.Ala127Glu)
c.119C>A (p.Ala40Glu)
c.419C>A (p.Ala140Glu)
c.287C>A (p.Ala96Glu)
n.1023C>A
1g.1804431C>ACA337914173GNB1c.379G>T (p.Ala127Ser)
c.118G>T (p.Ala40Ser)
c.418G>T (p.Ala140Ser)
c.286G>T (p.Ala96Ser)
n.1022G>T
1g.1804431C>GCA337914177GNB1c.379G>C (p.Ala127Pro)
c.118G>C (p.Ala40Pro)
c.418G>C (p.Ala140Pro)
c.286G>C (p.Ala96Pro)
n.1022G>C
1g.1804431C>TCA337914170GNB1c.379G>A (p.Ala127Thr)
c.118G>A (p.Ala40Thr)
c.418G>A (p.Ala140Thr)
c.286G>A (p.Ala96Thr)
n.1022G>A
1g.1804432C>ACA415404097GNB1c.378G>T (p.Leu126=)
c.117G>T (p.Leu39=)
c.417G>T (p.Leu139=)
c.285G>T (p.Leu95=)
n.1021G>T
1g.1804432C=CA1149323320GNB1c.378G= (p.Leu126=)
c.117G= (p.Leu39=)
c.417G= (p.Leu139=)
c.285G= (p.Leu95=)
n.1021G=
1g.1804432C>GCA415404098GNB1c.378G>C (p.Leu126=)
c.117G>C (p.Leu39=)
c.417G>C (p.Leu139=)
c.285G>C (p.Leu95=)
n.1021G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1804432C>TCA415404099GNB1c.378G>A (p.Leu126=)
c.117G>A (p.Leu39=)
c.417G>A (p.Leu139=)
c.285G>A (p.Leu95=)
n.1021G>A
1g.1804433A>CCA337914181GNB1c.377T>G (p.Leu126Arg)
c.116T>G (p.Leu39Arg)
c.416T>G (p.Leu139Arg)
c.284T>G (p.Leu95Arg)
n.1020T>G
1g.1804433A>GCA337914186GNB1c.377T>C (p.Leu126Pro)
c.116T>C (p.Leu39Pro)
c.416T>C (p.Leu139Pro)
c.284T>C (p.Leu95Pro)
n.1020T>C
1g.1804433A>TCA337914188GNB1c.377T>A (p.Leu126Gln)
c.116T>A (p.Leu39Gln)
c.416T>A (p.Leu139Gln)
c.284T>A (p.Leu95Gln)
n.1020T>A
1g.1804434G>ACA415404103GNB1c.376C>T (p.Leu126=)
c.115C>T (p.Leu39=)
c.415C>T (p.Leu139=)
c.283C>T (p.Leu95=)
n.1019C>T
1g.1804434G>CCA337914193GNB1c.376C>G (p.Leu126Val)
c.115C>G (p.Leu39Val)
c.415C>G (p.Leu139Val)
c.283C>G (p.Leu95Val)
n.1019C>G
1g.1804434G>TCA337914197GNB1c.376C>A (p.Leu126Met)
c.115C>A (p.Leu39Met)
c.415C>A (p.Leu139Met)
c.283C>A (p.Leu95Met)
n.1019C>A
1g.1804435C>ACA337914204GNB1c.375G>T (p.Glu125Asp)
c.114G>T (p.Glu38Asp)
c.414G>T (p.Glu138Asp)
c.282G>T (p.Glu94Asp)
n.1018G>T
1g.1804435C>GCA337914211GNB1c.375G>C (p.Glu125Asp)
c.114G>C (p.Glu38Asp)
c.414G>C (p.Glu138Asp)
c.282G>C (p.Glu94Asp)
n.1018G>C
1g.1804435C>TCA415404104GNB1c.375G>A (p.Glu125=)
c.114G>A (p.Glu38=)
c.414G>A (p.Glu138=)
c.282G>A (p.Glu94=)
n.1018G>A
1g.1804436T>ACA337914216GNB1c.374A>T (p.Glu125Val)
c.113A>T (p.Glu38Val)
c.413A>T (p.Glu138Val)
c.281A>T (p.Glu94Val)
n.1017A>T
1g.1804436T>CCA337914220GNB1c.374A>G (p.Glu125Gly)
c.113A>G (p.Glu38Gly)
c.413A>G (p.Glu138Gly)
c.281A>G (p.Glu94Gly)
n.1017A>G
1g.1804436T>GCA337914223GNB1c.374A>C (p.Glu125Ala)
c.113A>C (p.Glu38Ala)
c.413A>C (p.Glu138Ala)
c.281A>C (p.Glu94Ala)
n.1017A>C
1g.1804437C>ACA337914226GNB1c.373G>T (p.Glu125Ter)
c.112G>T (p.Glu38Ter)
c.412G>T (p.Glu138Ter)
c.280G>T (p.Glu94Ter)
n.1016G>T
1g.1804437C>GCA337914231GNB1c.373G>C (p.Glu125Gln)
c.112G>C (p.Glu38Gln)
c.412G>C (p.Glu138Gln)
c.280G>C (p.Glu94Gln)
n.1016G>C
1g.1804437C>TCA337914235GNB1c.373G>A (p.Glu125Lys)
c.112G>A (p.Glu38Lys)
c.412G>A (p.Glu138Lys)
c.280G>A (p.Glu94Lys)
n.1016G>A
1g.1804438A>CCA415404107GNB1c.372T>G (p.Arg124=)
c.111T>G (p.Arg37=)
c.411T>G (p.Arg137=)
c.279T>G (p.Arg93=)
n.1015T>G
1g.1804438A>GCA415404108GNB1c.372T>C (p.Arg124=)
c.111T>C (p.Arg37=)
c.411T>C (p.Arg137=)
c.279T>C (p.Arg93=)
n.1015T>C
1g.1804438A>TCA415404110GNB1c.372T>A (p.Arg124=)
c.111T>A (p.Arg37=)
c.411T>A (p.Arg137=)
c.279T>A (p.Arg93=)
n.1015T>A
gnomAD v4
1g.1804439C>ACA337914242GNB1c.371G>T (p.Arg124Leu)
c.110G>T (p.Arg37Leu)
c.410G>T (p.Arg137Leu)
c.278G>T (p.Arg93Leu)
n.1014G>T
1g.1804439C>GCA337914247GNB1c.371G>C (p.Arg124Pro)
c.110G>C (p.Arg37Pro)
c.410G>C (p.Arg137Pro)
c.278G>C (p.Arg93Pro)
n.1014G>C
1g.1804439C>TCA337914244GNB1c.371G>A (p.Arg124His)
c.110G>A (p.Arg37His)
c.410G>A (p.Arg137His)
c.278G>A (p.Arg93His)
n.1014G>A
gnomAD v4
1g.1804440G>ACA337914254GNB1c.370C>T (p.Arg124Cys)
c.109C>T (p.Arg37Cys)
c.409C>T (p.Arg137Cys)
c.277C>T (p.Arg93Cys)
n.1013C>T
1g.1804440G>CCA337914259GNB1c.370C>G (p.Arg124Gly)
c.109C>G (p.Arg37Gly)
c.409C>G (p.Arg137Gly)
c.277C>G (p.Arg93Gly)
n.1013C>G
1g.1804440G>TCA337914262GNB1c.370C>A (p.Arg124Ser)
c.109C>A (p.Arg37Ser)
c.409C>A (p.Arg137Ser)
c.277C>A (p.Arg93Ser)
n.1013C>A
gnomAD v4
1g.1804441A>CCA337914265GNB1c.369T>G (p.Ser123Arg)
c.108T>G (p.Ser36Arg)
c.408T>G (p.Ser136Arg)
c.276T>G (p.Ser92Arg)
n.1012T>G
1g.1804441A>GCA415404111GNB1c.369T>C (p.Ser123=)
c.108T>C (p.Ser36=)
c.408T>C (p.Ser136=)
c.276T>C (p.Ser92=)
n.1012T>C
1g.1804441A>TCA337914268GNB1c.369T>A (p.Ser123Arg)
c.108T>A (p.Ser36Arg)
c.408T>A (p.Ser136Arg)
c.276T>A (p.Ser92Arg)
n.1012T>A
1g.1804442C>ACA337914273GNB1c.368G>T (p.Ser123Ile)
c.107G>T (p.Ser36Ile)
c.407G>T (p.Ser136Ile)
c.275G>T (p.Ser92Ile)
n.1011G>T
1g.1804442C=CA1149323324GNB1c.368G= (p.Ser123=)
c.107G= (p.Ser36=)
c.407G= (p.Ser136=)
c.275G= (p.Ser92=)
n.1011G=
1g.1804442C>GCA337914275GNB1c.368G>C (p.Ser123Thr)
c.107G>C (p.Ser36Thr)
c.407G>C (p.Ser136Thr)
c.275G>C (p.Ser92Thr)
n.1011G>C
dbSNP gnomAD v3 gnomAD v4
1g.1804442C>TCA337914278GNB1c.368G>A (p.Ser123Asn)
c.107G>A (p.Ser36Asn)
c.407G>A (p.Ser136Asn)
c.275G>A (p.Ser92Asn)
n.1011G>A
dbSNP gnomAD v2 gnomAD v4
1g.1804443T>ACA337914284GNB1c.367A>T (p.Ser123Cys)
c.106A>T (p.Ser36Cys)
c.406A>T (p.Ser136Cys)
c.274A>T (p.Ser92Cys)
n.1010A>T
1g.1804443T>CCA337914288GNB1c.367A>G (p.Ser123Gly)
c.106A>G (p.Ser36Gly)
c.406A>G (p.Ser136Gly)
c.274A>G (p.Ser92Gly)
n.1010A>G
1g.1804443T>GCA337914295GNB1c.367A>C (p.Ser123Arg)
c.106A>C (p.Ser36Arg)
c.406A>C (p.Ser136Arg)
c.274A>C (p.Ser92Arg)
n.1010A>C
1g.1804444C>ACA415404115GNB1c.366G>T (p.Val122=)
c.105G>T (p.Val35=)
c.405G>T (p.Val135=)
c.273G>T (p.Val91=)
n.1009G>T
1g.1804444C>GCA415404116GNB1c.366G>C (p.Val122=)
c.105G>C (p.Val35=)
c.405G>C (p.Val135=)
c.273G>C (p.Val91=)
n.1009G>C
1g.1804444C>TCA415404117GNB1c.366G>A (p.Val122=)
c.105G>A (p.Val35=)
c.405G>A (p.Val135=)
c.273G>A (p.Val91=)
n.1009G>A
1g.1804445A>CCA337914303GNB1c.365T>G (p.Val122Gly)
c.104T>G (p.Val35Gly)
c.404T>G (p.Val135Gly)
c.272T>G (p.Val91Gly)
n.1008T>G
1g.1804445A>GCA337914308GNB1c.365T>C (p.Val122Ala)
c.104T>C (p.Val35Ala)
c.404T>C (p.Val135Ala)
c.272T>C (p.Val91Ala)
n.1008T>C
1g.1804445A>TCA337914299GNB1c.365T>A (p.Val122Glu)
c.104T>A (p.Val35Glu)
c.404T>A (p.Val135Glu)
c.272T>A (p.Val91Glu)
n.1008T>A
1g.1804446C>ACA337914315GNB1c.364G>T (p.Val122Leu)
c.103G>T (p.Val35Leu)
c.403G>T (p.Val135Leu)
c.271G>T (p.Val91Leu)
n.1007G>T
1g.1804446C>GCA337914311GNB1c.364G>C (p.Val122Leu)
c.103G>C (p.Val35Leu)
c.403G>C (p.Val135Leu)
c.271G>C (p.Val91Leu)
n.1007G>C
1g.1804446C>TCA337914313GNB1c.364G>A (p.Val122Met)
c.103G>A (p.Val35Met)
c.403G>A (p.Val135Met)
c.271G>A (p.Val91Met)
n.1007G>A
gnomAD v4 COSMIC
1g.1804447G>ACA532043GNB1c.363C>T (p.Arg121=)
c.102C>T (p.Arg34=)
c.402C>T (p.Arg134=)
c.270C>T (p.Arg90=)
n.1006C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1804447G>CCA415404119GNB1c.363C>G (p.Arg121=)
c.102C>G (p.Arg34=)
c.402C>G (p.Arg134=)
c.270C>G (p.Arg90=)
n.1006C>G
1g.1804447G=CA1146745488GNB1c.363C= (p.Arg121=)
c.102C= (p.Arg34=)
c.402C= (p.Arg134=)
c.270C= (p.Arg90=)
n.1006C=
1g.1804447G>TCA415404118GNB1c.363C>A (p.Arg121=)
c.102C>A (p.Arg34=)
c.402C>A (p.Arg134=)
c.270C>A (p.Arg90=)
n.1006C>A
1g.1804448C>ACA337914330GNB1c.362G>T (p.Arg121Leu)
c.101G>T (p.Arg34Leu)
c.401G>T (p.Arg134Leu)
c.269G>T (p.Arg90Leu)
n.1005G>T
1g.1804448C=CA1149323328GNB1c.362G= (p.Arg121=)
c.101G= (p.Arg34=)
c.401G= (p.Arg134=)
c.269G= (p.Arg90=)
n.1005G=
1g.1804448C>GCA337914333GNB1c.362G>C (p.Arg121Pro)
c.101G>C (p.Arg34Pro)
c.401G>C (p.Arg134Pro)
c.269G>C (p.Arg90Pro)
n.1005G>C
1g.1804448C>TCA337914338GNB1c.362G>A (p.Arg121His)
c.101G>A (p.Arg34His)
c.401G>A (p.Arg134His)
c.269G>A (p.Arg90His)
n.1005G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1804449G>ACA337914343GNB1c.361C>T (p.Arg121Cys)
c.100C>T (p.Arg34Cys)
c.400C>T (p.Arg134Cys)
c.268C>T (p.Arg90Cys)
n.1004C>T
gnomAD v4
1g.1804449G>CCA337914346GNB1c.361C>G (p.Arg121Gly)
c.100C>G (p.Arg34Gly)
c.400C>G (p.Arg134Gly)
c.268C>G (p.Arg90Gly)
n.1004C>G
1g.1804449G>TCA337914348GNB1c.361C>A (p.Arg121Ser)
c.100C>A (p.Arg34Ser)
c.400C>A (p.Arg134Ser)
c.268C>A (p.Arg90Ser)
n.1004C>A
1g.1804450C>ACA415404120GNB1c.360G>T (p.Val120=)
c.99G>T (p.Val33=)
c.399G>T (p.Val133=)
c.267G>T (p.Val89=)
n.1003G>T
1g.1804450C=CA1149323334GNB1c.360G= (p.Val120=)
c.99G= (p.Val33=)
c.399G= (p.Val133=)
c.267G= (p.Val89=)
n.1003G=
1g.1804450C>GCA415404121GNB1c.360G>C (p.Val120=)
c.99G>C (p.Val33=)
c.399G>C (p.Val133=)
c.267G>C (p.Val89=)
n.1003G>C
1g.1804450C>TCA16827538GNB1c.360G>A (p.Val120=)
c.99G>A (p.Val33=)
c.399G>A (p.Val133=)
c.267G>A (p.Val89=)
n.1003G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1804451A>CCA337914352GNB1c.359T>G (p.Val120Gly)
c.98T>G (p.Val33Gly)
c.398T>G (p.Val133Gly)
c.266T>G (p.Val89Gly)
n.1002T>G
1g.1804451A>GCA337914355GNB1c.359T>C (p.Val120Ala)
c.98T>C (p.Val33Ala)
c.398T>C (p.Val133Ala)
c.266T>C (p.Val89Ala)
n.1002T>C
1g.1804451A>TCA337914358GNB1c.359T>A (p.Val120Glu)
c.98T>A (p.Val33Glu)
c.398T>A (p.Val133Glu)
c.266T>A (p.Val89Glu)
n.1002T>A
1g.1804452C>ACA337914365GNB1c.358G>T (p.Val120Leu)
c.97G>T (p.Val33Leu)
c.397G>T (p.Val133Leu)
c.265G>T (p.Val89Leu)
n.1001G>T
1g.1804452C=CA1149323336GNB1c.358G= (p.Val120=)
c.97G= (p.Val33=)
c.397G= (p.Val133=)
c.265G= (p.Val89=)
n.1001G=
1g.1804452C>GCA337914369GNB1c.358G>C (p.Val120Leu)
c.97G>C (p.Val33Leu)
c.397G>C (p.Val133Leu)
c.265G>C (p.Val89Leu)
n.1001G>C
1g.1804452C>TCA532044GNB1c.358G>A (p.Val120Met)
c.97G>A (p.Val33Met)
c.397G>A (p.Val133Met)
c.265G>A (p.Val89Met)
n.1001G>A
dbSNP ExAC gnomAD v4
1g.1804453G>ACA415404122GNB1c.357C>T (p.Asn119=)
c.96C>T (p.Asn32=)
c.396C>T (p.Asn132=)
c.264C>T (p.Asn88=)
n.1000C>T
ClinVar dbSNP gnomAD v4
1g.1804453G>CCA337914372GNB1c.357C>G (p.Asn119Lys)
c.96C>G (p.Asn32Lys)
c.396C>G (p.Asn132Lys)
c.264C>G (p.Asn88Lys)
n.1000C>G
1g.1804453G=CA1149323339GNB1c.357C= (p.Asn119=)
c.96C= (p.Asn32=)
c.396C= (p.Asn132=)
c.264C= (p.Asn88=)
n.1000C=
1g.1804453G>TCA337914374GNB1c.357C>A (p.Asn119Lys)
c.96C>A (p.Asn32Lys)
c.396C>A (p.Asn132Lys)
c.264C>A (p.Asn88Lys)
n.1000C>A
1g.1804454T>ACA337914388GNB1c.356A>T (p.Asn119Ile)
c.95A>T (p.Asn32Ile)
c.395A>T (p.Asn132Ile)
c.263A>T (p.Asn88Ile)
n.999A>T
1g.1804454T>CCA337914391GNB1c.356A>G (p.Asn119Ser)
c.95A>G (p.Asn32Ser)
c.395A>G (p.Asn132Ser)
c.263A>G (p.Asn88Ser)
n.999A>G
dbSNP gnomAD v4
1g.1804454T>GCA337914394GNB1c.356A>C (p.Asn119Thr)
c.95A>C (p.Asn32Thr)
c.395A>C (p.Asn132Thr)
c.263A>C (p.Asn88Thr)
n.999A>C
1g.1804454T=CA1149323341GNB1c.356A= (p.Asn119=)
c.95A= (p.Asn32=)
c.395A= (p.Asn132=)
c.263A= (p.Asn88=)
n.999A=
1g.1804455T>ACA337914405GNB1c.355A>T (p.Asn119Tyr)
c.94A>T (p.Asn32Tyr)
c.394A>T (p.Asn132Tyr)
c.262A>T (p.Asn88Tyr)
n.998A>T
1g.1804455T>CCA337914400GNB1c.355A>G (p.Asn119Asp)
c.94A>G (p.Asn32Asp)
c.394A>G (p.Asn132Asp)
c.262A>G (p.Asn88Asp)
n.998A>G
1g.1804455T>GCA337914403GNB1c.355A>C (p.Asn119His)
c.94A>C (p.Asn32His)
c.394A>C (p.Asn132His)
c.262A>C (p.Asn88His)
n.998A>C
1g.1804456C>ACA415404124GNB1c.354G>T (p.Gly118=)
c.93G>T (p.Gly31=)
c.393G>T (p.Gly131=)
c.261G>T (p.Gly87=)
n.997G>T
1g.1804456C>GCA415404125GNB1c.354G>C (p.Gly118=)
c.93G>C (p.Gly31=)
c.393G>C (p.Gly131=)
c.261G>C (p.Gly87=)
n.997G>C
1g.1804456C>TCA415404123GNB1c.354G>A (p.Gly118=)
c.93G>A (p.Gly31=)
c.393G>A (p.Gly131=)
c.261G>A (p.Gly87=)
n.997G>A
1g.1804457C>ACA337914409GNB1c.353G>T (p.Gly118Val)
c.92G>T (p.Gly31Val)
c.392G>T (p.Gly131Val)
c.260G>T (p.Gly87Val)
n.996G>T
1g.1804457C>GCA337914413GNB1c.353G>C (p.Gly118Ala)
c.92G>C (p.Gly31Ala)
c.392G>C (p.Gly131Ala)
c.260G>C (p.Gly87Ala)
n.996G>C
1g.1804457C>TCA337914417GNB1c.353G>A (p.Gly118Glu)
c.92G>A (p.Gly31Glu)
c.392G>A (p.Gly131Glu)
c.260G>A (p.Gly87Glu)
n.996G>A
1g.1804458C>ACA337914422GNB1c.352G>T (p.Gly118Trp)
c.91G>T (p.Gly31Trp)
c.391G>T (p.Gly131Trp)
c.259G>T (p.Gly87Trp)
n.995G>T
1g.1804458C>GCA337914424GNB1c.352G>C (p.Gly118Arg)
c.91G>C (p.Gly31Arg)
c.391G>C (p.Gly131Arg)
c.259G>C (p.Gly87Arg)
n.995G>C
1g.1804458C>TCA337914427GNB1c.352G>A (p.Gly118Arg)
c.91G>A (p.Gly31Arg)
c.391G>A (p.Gly131Arg)
c.259G>A (p.Gly87Arg)
n.995G>A
1g.1804459C>ACA337914441GNB1c.351G>T (p.Glu117Asp)
c.90G>T (p.Glu30Asp)
c.390G>T (p.Glu130Asp)
c.258G>T (p.Glu86Asp)
n.994G>T
1g.1804459C=CA1149323342GNB1c.351G= (p.Glu117=)
c.90G= (p.Glu30=)
c.390G= (p.Glu130=)
c.258G= (p.Glu86=)
n.994G=
1g.1804459C>GCA337914431GNB1c.351G>C (p.Glu117Asp)
c.90G>C (p.Glu30Asp)
c.390G>C (p.Glu130Asp)
c.258G>C (p.Glu86Asp)
n.994G>C
1g.1804459C>TCA415404126GNB1c.351G>A (p.Glu117=)
c.90G>A (p.Glu30=)
c.390G>A (p.Glu130=)
c.258G>A (p.Glu86=)
n.994G>A
dbSNP
1g.1804460T>ACA337914447GNB1c.350A>T (p.Glu117Val)
c.89A>T (p.Glu30Val)
c.389A>T (p.Glu130Val)
c.257A>T (p.Glu86Val)
n.993A>T
1g.1804460T>CCA337914448GNB1c.350A>G (p.Glu117Gly)
c.89A>G (p.Glu30Gly)
c.389A>G (p.Glu130Gly)
c.257A>G (p.Glu86Gly)
n.993A>G
1g.1804460T>GCA337914451GNB1c.350A>C (p.Glu117Ala)
c.89A>C (p.Glu30Ala)
c.389A>C (p.Glu130Ala)
c.257A>C (p.Glu86Ala)
n.993A>C
1g.1804461C>ACA337914455GNB1c.349G>T (p.Glu117Ter)
c.88G>T (p.Glu30Ter)
c.388G>T (p.Glu130Ter)
c.256G>T (p.Glu86Ter)
n.992G>T
1g.1804461C=CA1149323343GNB1c.349G= (p.Glu117=)
c.88G= (p.Glu30=)
c.388G= (p.Glu130=)
c.256G= (p.Glu86=)
n.992G=
1g.1804461C>GCA337914459GNB1c.349G>C (p.Glu117Gln)
c.88G>C (p.Glu30Gln)
c.388G>C (p.Glu130Gln)
c.256G>C (p.Glu86Gln)
n.992G>C
1g.1804461C>TCA337914460GNB1c.349G>A (p.Glu117Lys)
c.88G>A (p.Glu30Lys)
c.388G>A (p.Glu130Lys)
c.256G>A (p.Glu86Lys)
n.992G>A
ClinVar dbSNP
1g.1804462A>CCA415404127GNB1c.348T>G (p.Arg116=)
c.87T>G (p.Arg29=)
c.387T>G (p.Arg129=)
c.255T>G (p.Arg85=)
n.991T>G
1g.1804462A>GCA415404128GNB1c.348T>C (p.Arg116=)
c.87T>C (p.Arg29=)
c.387T>C (p.Arg129=)
c.255T>C (p.Arg85=)
n.991T>C
1g.1804462A>TCA415404129GNB1c.348T>A (p.Arg116=)
c.87T>A (p.Arg29=)
c.387T>A (p.Arg129=)
c.255T>A (p.Arg85=)
n.991T>A
1g.1804463C>ACA337914471GNB1c.347G>T (p.Arg116Leu)
c.86G>T (p.Arg29Leu)
c.386G>T (p.Arg129Leu)
c.254G>T (p.Arg85Leu)
n.990G>T
1g.1804463C=CA1149323344GNB1c.347G= (p.Arg116=)
c.86G= (p.Arg29=)
c.386G= (p.Arg129=)
c.254G= (p.Arg85=)
n.990G=
1g.1804463C>GCA337914468GNB1c.347G>C (p.Arg116Pro)
c.86G>C (p.Arg29Pro)
c.386G>C (p.Arg129Pro)
c.254G>C (p.Arg85Pro)
n.990G>C
1g.1804463C>TCA337914465GNB1c.347G>A (p.Arg116His)
c.86G>A (p.Arg29His)
c.386G>A (p.Arg129His)
c.254G>A (p.Arg85His)
n.990G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1804464G>ACA337914476GNB1c.346C>T (p.Arg116Cys)
c.85C>T (p.Arg29Cys)
c.385C>T (p.Arg129Cys)
c.253C>T (p.Arg85Cys)
n.989C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1804464G>CCA337914479GNB1c.346C>G (p.Arg116Gly)
c.85C>G (p.Arg29Gly)
c.385C>G (p.Arg129Gly)
c.253C>G (p.Arg85Gly)
n.989C>G
1g.1804464G=CA1149323345GNB1c.346C= (p.Arg116=)
c.85C= (p.Arg29=)
c.385C= (p.Arg129=)
c.253C= (p.Arg85=)
n.989C=
1g.1804464G>TCA337914481GNB1c.346C>A (p.Arg116Ser)
c.85C>A (p.Arg29Ser)
c.385C>A (p.Arg129Ser)
c.253C>A (p.Arg85Ser)
n.989C>A
1g.1804465A>CCA415404130GNB1c.345T>G (p.Thr115=)
c.84T>G (p.Thr28=)
c.384T>G (p.Thr128=)
c.252T>G (p.Thr84=)
n.988T>G
1g.1804465A>GCA415404131GNB1c.345T>C (p.Thr115=)
c.84T>C (p.Thr28=)
c.384T>C (p.Thr128=)
c.252T>C (p.Thr84=)
n.988T>C
1g.1804465A>TCA415404132GNB1c.345T>A (p.Thr115=)
c.84T>A (p.Thr28=)
c.384T>A (p.Thr128=)
c.252T>A (p.Thr84=)
n.988T>A
1g.1804466G>ACA337914485GNB1c.344C>T (p.Thr115Ile)
c.83C>T (p.Thr28Ile)
c.383C>T (p.Thr128Ile)
c.251C>T (p.Thr84Ile)
n.987C>T
dbSNP
1g.1804466G>CCA337914496GNB1c.344C>G (p.Thr115Ser)
c.83C>G (p.Thr28Ser)
c.383C>G (p.Thr128Ser)
c.251C>G (p.Thr84Ser)
n.987C>G
1g.1804466G=CA1149323346GNB1c.344C= (p.Thr115=)
c.83C= (p.Thr28=)
c.383C= (p.Thr128=)
c.251C= (p.Thr84=)
n.987C=
1g.1804466G>TCA337914499GNB1c.344C>A (p.Thr115Asn)
c.83C>A (p.Thr28Asn)
c.383C>A (p.Thr128Asn)
c.251C>A (p.Thr84Asn)
n.987C>A
1g.1804467T>ACA337914522GNB1c.343A>T (p.Thr115Ser)
c.82A>T (p.Thr28Ser)
c.382A>T (p.Thr128Ser)
c.250A>T (p.Thr84Ser)
n.986A>T
1g.1804467T>CCA337914527GNB1c.343A>G (p.Thr115Ala)
c.82A>G (p.Thr28Ala)
c.382A>G (p.Thr128Ala)
c.250A>G (p.Thr84Ala)
n.986A>G
1g.1804467T>GCA337914524GNB1c.343A>C (p.Thr115Pro)
c.82A>C (p.Thr28Pro)
c.382A>C (p.Thr128Pro)
c.250A>C (p.Thr84Pro)
n.986A>C
1g.1804468T>ACA337914529GNB1c.342A>T (p.Lys114Asn)
c.81A>T (p.Lys27Asn)
c.381A>T (p.Lys127Asn)
c.249A>T (p.Lys83Asn)
n.985A>T
1g.1804468T>CCA415404133GNB1c.342A>G (p.Lys114=)
c.81A>G (p.Lys27=)
c.381A>G (p.Lys127=)
c.249A>G (p.Lys83=)
n.985A>G
1g.1804468T>GCA337914532GNB1c.342A>C (p.Lys114Asn)
c.81A>C (p.Lys27Asn)
c.381A>C (p.Lys127Asn)
c.249A>C (p.Lys83Asn)
n.985A>C
1g.1804469T>ACA337914537GNB1c.341A>T (p.Lys114Ile)
c.80A>T (p.Lys27Ile)
c.380A>T (p.Lys127Ile)
c.248A>T (p.Lys83Ile)
n.984A>T
1g.1804469T>CCA337914539GNB1c.341A>G (p.Lys114Arg)
c.80A>G (p.Lys27Arg)
c.380A>G (p.Lys127Arg)
c.248A>G (p.Lys83Arg)
n.984A>G
1g.1804469T>GCA337914543GNB1c.341A>C (p.Lys114Thr)
c.80A>C (p.Lys27Thr)
c.380A>C (p.Lys127Thr)
c.248A>C (p.Lys83Thr)
n.984A>C
1g.1804470T>ACA337914550GNB1c.340A>T (p.Lys114Ter)
c.79A>T (p.Lys27Ter)
c.379A>T (p.Lys127Ter)
c.247A>T (p.Lys83Ter)
n.983A>T
1g.1804470T>CCA337914561GNB1c.340A>G (p.Lys114Glu)
c.79A>G (p.Lys27Glu)
c.379A>G (p.Lys127Glu)
c.247A>G (p.Lys83Glu)
n.983A>G
1g.1804470T>GCA337914564GNB1c.340A>C (p.Lys114Gln)
c.79A>C (p.Lys27Gln)
c.379A>C (p.Lys127Gln)
c.247A>C (p.Lys83Gln)
n.983A>C
1g.1804471C>ACA415404135GNB1c.339G>T (p.Leu113=)
c.78G>T (p.Leu26=)
c.378G>T (p.Leu126=)
c.246G>T (p.Leu82=)
n.982G>T
1g.1804471C=CA1149323347GNB1c.339G= (p.Leu113=)
c.78G= (p.Leu26=)
c.378G= (p.Leu126=)
c.246G= (p.Leu82=)
n.982G=
1g.1804471C>GCA415404134GNB1c.339G>C (p.Leu113=)
c.78G>C (p.Leu26=)
c.378G>C (p.Leu126=)
c.246G>C (p.Leu82=)
n.982G>C
1g.1804471C>TCA16827544GNB1c.339G>A (p.Leu113=)
c.78G>A (p.Leu26=)
c.378G>A (p.Leu126=)
c.246G>A (p.Leu82=)
n.982G>A
dbSNP
1g.1804472A=CA1149323348GNB1c.338T= (p.Leu113=)
c.77T= (p.Leu26=)
c.377T= (p.Leu126=)
c.245T= (p.Leu82=)
n.981T=
1g.1804472A>CCA337914567GNB1c.338T>G (p.Leu113Arg)
c.77T>G (p.Leu26Arg)
c.377T>G (p.Leu126Arg)
c.245T>G (p.Leu82Arg)
n.981T>G
1g.1804472A>GCA337914570GNB1c.338T>C (p.Leu113Pro)
c.77T>C (p.Leu26Pro)
c.377T>C (p.Leu126Pro)
c.245T>C (p.Leu82Pro)
n.981T>C
1g.1804472A>TCA16827545GNB1c.338T>A (p.Leu113Gln)
c.77T>A (p.Leu26Gln)
c.377T>A (p.Leu126Gln)
c.245T>A (p.Leu82Gln)
n.981T>A
dbSNP
1g.1804473G>ACA415404136GNB1c.337C>T (p.Leu113=)
c.76C>T (p.Leu26=)
c.376C>T (p.Leu126=)
c.244C>T (p.Leu82=)
n.980C>T
1g.1804473G>CCA337914577GNB1c.337C>G (p.Leu113Val)
c.76C>G (p.Leu26Val)
c.376C>G (p.Leu126Val)
c.244C>G (p.Leu82Val)
n.980C>G
dbSNP
1g.1804473G=CA1149323349GNB1c.337C= (p.Leu113=)
c.76C= (p.Leu26=)
c.376C= (p.Leu126=)
c.244C= (p.Leu82=)
n.980C=
1g.1804473G>TCA337914584GNB1c.337C>A (p.Leu113Met)
c.76C>A (p.Leu26Met)
c.376C>A (p.Leu126Met)
c.244C>A (p.Leu82Met)
n.980C>A
1g.1804474A>CCA337914590GNB1c.336T>G (p.Asn112Lys)
c.75T>G (p.Asn25Lys)
c.375T>G (p.Asn125Lys)
c.243T>G (p.Asn81Lys)
n.979T>G
1g.1804474A>GCA415404137GNB1c.336T>C (p.Asn112=)
c.75T>C (p.Asn25=)
c.375T>C (p.Asn125=)
c.243T>C (p.Asn81=)
n.979T>C
1g.1804474A>TCA337914593GNB1c.336T>A (p.Asn112Lys)
c.75T>A (p.Asn25Lys)
c.375T>A (p.Asn125Lys)
c.243T>A (p.Asn81Lys)
n.979T>A
1g.1804475T>ACA337914601GNB1c.335A>T (p.Asn112Ile)
c.74A>T (p.Asn25Ile)
c.374A>T (p.Asn125Ile)
c.242A>T (p.Asn81Ile)
n.978A>T
dbSNP
1g.1804475T>CCA532045GNB1c.335A>G (p.Asn112Ser)
c.74A>G (p.Asn25Ser)
c.374A>G (p.Asn125Ser)
c.242A>G (p.Asn81Ser)
n.978A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1804475T>GCA337914605GNB1c.335A>C (p.Asn112Thr)
c.74A>C (p.Asn25Thr)
c.374A>C (p.Asn125Thr)
c.242A>C (p.Asn81Thr)
n.978A>C
1g.1804475T=CA1142375769GNB1c.335A= (p.Asn112=)
c.74A= (p.Asn25=)
c.374A= (p.Asn125=)
c.242A= (p.Asn81=)
n.978A=
1g.1804476T>ACA337914613GNB1c.334A>T (p.Asn112Tyr)
c.73A>T (p.Asn25Tyr)
c.373A>T (p.Asn125Tyr)
c.241A>T (p.Asn81Tyr)
n.977A>T
1g.1804476T>CCA337914619GNB1c.334A>G (p.Asn112Asp)
c.73A>G (p.Asn25Asp)
c.373A>G (p.Asn125Asp)
c.241A>G (p.Asn81Asp)
n.977A>G
1g.1804476T>GCA337914616GNB1c.334A>C (p.Asn112His)
c.73A>C (p.Asn25His)
c.373A>C (p.Asn125His)
c.241A>C (p.Asn81His)
n.977A>C
1g.1804477G>ACA415404138GNB1c.333C>T (p.Tyr111=)
c.72C>T (p.Tyr24=)
c.372C>T (p.Tyr124=)
c.240C>T (p.Tyr80=)
n.976C>T
1g.1804477G>CCA337914620GNB1c.333C>G (p.Tyr111Ter)
c.72C>G (p.Tyr24Ter)
c.372C>G (p.Tyr124Ter)
c.240C>G (p.Tyr80Ter)
n.976C>G
1g.1804477G>TCA337914621GNB1c.333C>A (p.Tyr111Ter)
c.72C>A (p.Tyr24Ter)
c.372C>A (p.Tyr124Ter)
c.240C>A (p.Tyr80Ter)
n.976C>A
1g.1804478T>ACA337914623GNB1c.332A>T (p.Tyr111Phe)
c.71A>T (p.Tyr24Phe)
c.371A>T (p.Tyr124Phe)
c.239A>T (p.Tyr80Phe)
n.975A>T
1g.1804478T>CCA337914625GNB1c.332A>G (p.Tyr111Cys)
c.71A>G (p.Tyr24Cys)
c.371A>G (p.Tyr124Cys)
c.239A>G (p.Tyr80Cys)
n.975A>G
1g.1804478T>GCA337914628GNB1c.332A>C (p.Tyr111Ser)
c.71A>C (p.Tyr24Ser)
c.371A>C (p.Tyr124Ser)
c.239A>C (p.Tyr80Ser)
n.975A>C
1g.1804479A>CCA337914631GNB1c.331T>G (p.Tyr111Asp)
c.70T>G (p.Tyr24Asp)
c.370T>G (p.Tyr124Asp)
c.238T>G (p.Tyr80Asp)
n.974T>G
1g.1804479A>GCA337914639GNB1c.331T>C (p.Tyr111His)
c.70T>C (p.Tyr24His)
c.370T>C (p.Tyr124His)
c.238T>C (p.Tyr80His)
n.974T>C
1g.1804479A>TCA337914642GNB1c.331T>A (p.Tyr111Asn)
c.70T>A (p.Tyr24Asn)
c.370T>A (p.Tyr124Asn)
c.238T>A (p.Tyr80Asn)
n.974T>A
1g.1804480A>CCA337914645GNB1c.330T>G (p.Ile110Met)
c.69T>G (p.Ile23Met)
c.369T>G (p.Ile123Met)
c.237T>G (p.Ile79Met)
n.973T>G
1g.1804480A>GCA415404139GNB1c.330T>C (p.Ile110=)
c.69T>C (p.Ile23=)
c.369T>C (p.Ile123=)
c.237T>C (p.Ile79=)
n.973T>C
1g.1804480A>TCA415404140GNB1c.330T>A (p.Ile110=)
c.69T>A (p.Ile23=)
c.369T>A (p.Ile123=)
c.237T>A (p.Ile79=)
n.973T>A
1g.1804481A>CCA337914650GNB1c.329T>G (p.Ile110Ser)
c.68T>G (p.Ile23Ser)
c.368T>G (p.Ile123Ser)
c.236T>G (p.Ile79Ser)
n.972T>G
1g.1804481A>GCA337914654GNB1c.329T>C (p.Ile110Thr)
c.68T>C (p.Ile23Thr)
c.368T>C (p.Ile123Thr)
c.236T>C (p.Ile79Thr)
n.972T>C
gnomAD v4
1g.1804481A>TCA337914656GNB1c.329T>A (p.Ile110Asn)
c.68T>A (p.Ile23Asn)
c.368T>A (p.Ile123Asn)
c.236T>A (p.Ile79Asn)
n.972T>A
1g.1804482T>ACA337914660GNB1c.328A>T (p.Ile110Phe)
c.67A>T (p.Ile23Phe)
c.367A>T (p.Ile123Phe)
c.235A>T (p.Ile79Phe)
n.971A>T
1g.1804482T>CCA337914661GNB1c.328A>G (p.Ile110Val)
c.67A>G (p.Ile23Val)
c.367A>G (p.Ile123Val)
c.235A>G (p.Ile79Val)
n.971A>G
gnomAD v4
1g.1804482T>GCA337914662GNB1c.328A>C (p.Ile110Leu)
c.67A>C (p.Ile23Leu)
c.367A>C (p.Ile123Leu)
c.235A>C (p.Ile79Leu)
n.971A>C
1g.1804483G>ACA415404141GNB1c.327C>T (p.Ser109=)
c.66C>T (p.Ser22=)
c.366C>T (p.Ser122=)
c.234C>T (p.Ser78=)
n.970C>T
ClinVar gnomAD v4
1g.1804483G>CCA415404143GNB1c.327C>G (p.Ser109=)
c.66C>G (p.Ser22=)
c.366C>G (p.Ser122=)
c.234C>G (p.Ser78=)
n.970C>G
1g.1804483G>TCA415404142GNB1c.327C>A (p.Ser109=)
c.66C>A (p.Ser22=)
c.366C>A (p.Ser122=)
c.234C>A (p.Ser78=)
n.970C>A
1g.1804484G>ACA337914663GNB1c.326C>T (p.Ser109Phe)
c.65C>T (p.Ser22Phe)
c.365C>T (p.Ser122Phe)
c.233C>T (p.Ser78Phe)
n.969C>T
COSMIC
1g.1804484G>CCA337914670GNB1c.326C>G (p.Ser109Cys)
c.65C>G (p.Ser22Cys)
c.365C>G (p.Ser122Cys)
c.233C>G (p.Ser78Cys)
n.969C>G
1g.1804484G>TCA337914666GNB1c.326C>A (p.Ser109Tyr)
c.65C>A (p.Ser22Tyr)
c.365C>A (p.Ser122Tyr)
c.233C>A (p.Ser78Tyr)
n.969C>A
1g.1804485A>CCA337914684GNB1c.325T>G (p.Ser109Ala)
c.64T>G (p.Ser22Ala)
c.364T>G (p.Ser122Ala)
c.232T>G (p.Ser78Ala)
n.968T>G
1g.1804485A>GCA337914687GNB1c.325T>C (p.Ser109Pro)
c.64T>C (p.Ser22Pro)
c.364T>C (p.Ser122Pro)
c.232T>C (p.Ser78Pro)
n.968T>C
1g.1804485A>TCA337914690GNB1c.325T>A (p.Ser109Thr)
c.64T>A (p.Ser22Thr)
c.364T>A (p.Ser122Thr)
c.232T>A (p.Ser78Thr)
n.968T>A
1g.1804486G>ACA16827548GNB1c.324C>T (p.Cys108=)
c.63C>T (p.Cys21=)
c.363C>T (p.Cys121=)
c.231C>T (p.Cys77=)
n.967C>T
dbSNP gnomAD v4
1g.1804486G>CCA337914695GNB1c.324C>G (p.Cys108Trp)
c.63C>G (p.Cys21Trp)
c.363C>G (p.Cys121Trp)
c.231C>G (p.Cys77Trp)
n.967C>G
1g.1804486G=CA1143633503GNB1c.324C= (p.Cys108=)
c.63C= (p.Cys21=)
c.363C= (p.Cys121=)
c.231C= (p.Cys77=)
n.967C=
1g.1804486G>TCA337914697GNB1c.324C>A (p.Cys108Ter)
c.63C>A (p.Cys21Ter)
c.363C>A (p.Cys121Ter)
c.231C>A (p.Cys77Ter)
n.967C>A
1g.1804487C>ACA337914701GNB1c.323G>T (p.Cys108Phe)
c.62G>T (p.Cys21Phe)
c.362G>T (p.Cys121Phe)
c.230G>T (p.Cys77Phe)
n.966G>T
1g.1804487C>GCA337914703GNB1c.323G>C (p.Cys108Ser)
c.62G>C (p.Cys21Ser)
c.362G>C (p.Cys121Ser)
c.230G>C (p.Cys77Ser)
n.966G>C
1g.1804487C>TCA337914706GNB1c.323G>A (p.Cys108Tyr)
c.62G>A (p.Cys21Tyr)
c.362G>A (p.Cys121Tyr)
c.230G>A (p.Cys77Tyr)
n.966G>A
1g.1804488A>CCA337914715GNB1c.322T>G (p.Cys108Gly)
c.61T>G (p.Cys21Gly)
c.361T>G (p.Cys121Gly)
c.229T>G (p.Cys77Gly)
n.965T>G
1g.1804488A>GCA337914711GNB1c.322T>C (p.Cys108Arg)
c.61T>C (p.Cys21Arg)
c.361T>C (p.Cys121Arg)
c.229T>C (p.Cys77Arg)
n.965T>C
1g.1804488A>TCA337914709GNB1c.322T>A (p.Cys108Ser)
c.61T>A (p.Cys21Ser)
c.361T>A (p.Cys121Ser)
c.229T>A (p.Cys77Ser)
n.965T>A
1g.1804489A>CCA337914721GNB1c.321T>G (p.Ile107Met)
c.60T>G (p.Ile20Met)
c.360T>G (p.Ile120Met)
c.228T>G (p.Ile76Met)
n.964T>G
1g.1804489A>GCA415404144GNB1c.321T>C (p.Ile107=)
c.60T>C (p.Ile20=)
c.360T>C (p.Ile120=)
c.228T>C (p.Ile76=)
n.964T>C
1g.1804489A>TCA415404145GNB1c.321T>A (p.Ile107=)
c.60T>A (p.Ile20=)
c.360T>A (p.Ile120=)
c.228T>A (p.Ile76=)
n.964T>A
1g.1804490A>CCA337914728GNB1c.320T>G (p.Ile107Ser)
c.59T>G (p.Ile20Ser)
c.359T>G (p.Ile120Ser)
c.227T>G (p.Ile76Ser)
n.963T>G
1g.1804490A>GCA337914731GNB1c.320T>C (p.Ile107Thr)
c.59T>C (p.Ile20Thr)
c.359T>C (p.Ile120Thr)
c.227T>C (p.Ile76Thr)
n.963T>C
1g.1804490A>TCA337914735GNB1c.320T>A (p.Ile107Asn)
c.59T>A (p.Ile20Asn)
c.359T>A (p.Ile120Asn)
c.227T>A (p.Ile76Asn)
n.963T>A
1g.1804491T>ACA337914738GNB1c.319A>T (p.Ile107Phe)
c.58A>T (p.Ile20Phe)
c.358A>T (p.Ile120Phe)
c.226A>T (p.Ile76Phe)
n.962A>T
1g.1804491T>CCA337914742GNB1c.319A>G (p.Ile107Val)
c.58A>G (p.Ile20Val)
c.358A>G (p.Ile120Val)
c.226A>G (p.Ile76Val)
n.962A>G
1g.1804491T>GCA337914747GNB1c.319A>C (p.Ile107Leu)
c.58A>C (p.Ile20Leu)
c.358A>C (p.Ile120Leu)
c.226A>C (p.Ile76Leu)
n.962A>C
1g.1804492G>ACA415404146GNB1c.318C>T (p.Asn106=)
c.57C>T (p.Asn19=)
c.357C>T (p.Asn119=)
c.225C>T (p.Asn75=)
n.961C>T
dbSNP gnomAD v4
1g.1804492G>CCA337914750GNB1c.318C>G (p.Asn106Lys)
c.57C>G (p.Asn19Lys)
c.357C>G (p.Asn119Lys)
c.225C>G (p.Asn75Lys)
n.961C>G
1g.1804492G=CA1149323350GNB1c.318C= (p.Asn106=)
c.57C= (p.Asn19=)
c.357C= (p.Asn119=)
c.225C= (p.Asn75=)
n.961C=
1g.1804492G>TCA337914752GNB1c.318C>A (p.Asn106Lys)
c.57C>A (p.Asn19Lys)
c.357C>A (p.Asn119Lys)
c.225C>A (p.Asn75Lys)
n.961C>A
1g.1804493T>ACA337914755GNB1c.317A>T (p.Asn106Ile)
c.56A>T (p.Asn19Ile)
c.356A>T (p.Asn119Ile)
c.224A>T (p.Asn75Ile)
n.960A>T
1g.1804493T>CCA337914756GNB1c.317A>G (p.Asn106Ser)
c.56A>G (p.Asn19Ser)
c.356A>G (p.Asn119Ser)
c.224A>G (p.Asn75Ser)
n.960A>G
1g.1804493T>GCA337914762GNB1c.317A>C (p.Asn106Thr)
c.56A>C (p.Asn19Thr)
c.356A>C (p.Asn119Thr)
c.224A>C (p.Asn75Thr)
n.960A>C
1g.1804494T>ACA337914772GNB1c.316A>T (p.Asn106Tyr)
c.55A>T (p.Asn19Tyr)
c.355A>T (p.Asn119Tyr)
c.223A>T (p.Asn75Tyr)
n.959A>T
1g.1804494T>CCA337914766GNB1c.316A>G (p.Asn106Asp)
c.55A>G (p.Asn19Asp)
c.355A>G (p.Asn119Asp)
c.223A>G (p.Asn75Asp)
n.959A>G
1g.1804494T>GCA337914769GNB1c.316A>C (p.Asn106His)
c.55A>C (p.Asn19His)
c.355A>C (p.Asn119His)
c.223A>C (p.Asn75His)
n.959A>C
1g.1804495A=CA1149323351GNB1c.315T= (p.Asp105=)
c.54T= (p.Asp18=)
c.354T= (p.Asp118=)
c.222T= (p.Asp74=)
n.958T=
1g.1804495A>CCA337914773GNB1c.315T>G (p.Asp105Glu)
c.54T>G (p.Asp18Glu)
c.354T>G (p.Asp118Glu)
c.222T>G (p.Asp74Glu)
n.958T>G
1g.1804495A>GCA415404147GNB1c.315T>C (p.Asp105=)
c.54T>C (p.Asp18=)
c.354T>C (p.Asp118=)
c.222T>C (p.Asp74=)
n.958T>C
dbSNP
1g.1804495A>TCA337914774GNB1c.315T>A (p.Asp105Glu)
c.54T>A (p.Asp18Glu)
c.354T>A (p.Asp118Glu)
c.222T>A (p.Asp74Glu)
n.958T>A
1g.1804496T>ACA337914775GNB1c.314A>T (p.Asp105Val)
c.53A>T (p.Asp18Val)
c.353A>T (p.Asp118Val)
c.221A>T (p.Asp74Val)
n.957A>T
gnomAD v4
1g.1804496T>CCA337914777GNB1c.314A>G (p.Asp105Gly)
c.53A>G (p.Asp18Gly)
c.353A>G (p.Asp118Gly)
c.221A>G (p.Asp74Gly)
n.957A>G
ClinVar dbSNP gnomAD v4
1g.1804496T>GCA337914779GNB1c.314A>C (p.Asp105Ala)
c.53A>C (p.Asp18Ala)
c.353A>C (p.Asp118Ala)
c.221A>C (p.Asp74Ala)
n.957A>C
1g.1804496T=CA1149323352GNB1c.314A= (p.Asp105=)
c.53A= (p.Asp18=)
c.353A= (p.Asp118=)
c.221A= (p.Asp74=)
n.957A=
1g.1804497C>ACA337914782GNB1c.313G>T (p.Asp105Tyr)
c.52G>T (p.Asp18Tyr)
c.352G>T (p.Asp118Tyr)
c.220G>T (p.Asp74Tyr)
n.956G>T
ClinVar dbSNP COSMIC
1g.1804497C=CA1149323353GNB1c.313G= (p.Asp105=)
c.52G= (p.Asp18=)
c.352G= (p.Asp118=)
c.220G= (p.Asp74=)
n.956G=
1g.1804497C>GCA337914785GNB1c.313G>C (p.Asp105His)
c.52G>C (p.Asp18His)
c.352G>C (p.Asp118His)
c.220G>C (p.Asp74His)
n.956G>C
1g.1804497C>TCA337914789GNB1c.313G>A (p.Asp105Asn)
c.52G>A (p.Asp18Asn)
c.352G>A (p.Asp118Asn)
c.220G>A (p.Asp74Asn)
n.956G>A
1g.1804498C>ACA415404148GNB1c.312G>T (p.Leu104=)
c.51G>T (p.Leu17=)
c.351G>T (p.Leu117=)
c.219G>T (p.Leu73=)
n.955G>T
1g.1804498C>GCA415404149GNB1c.312G>C (p.Leu104=)
c.51G>C (p.Leu17=)
c.351G>C (p.Leu117=)
c.219G>C (p.Leu73=)
n.955G>C
1g.1804498C>TCA415404150GNB1c.312G>A (p.Leu104=)
c.51G>A (p.Leu17=)
c.351G>A (p.Leu117=)
c.219G>A (p.Leu73=)
n.955G>A
1g.1804499A>CCA337914792GNB1c.311T>G (p.Leu104Arg)
c.50T>G (p.Leu17Arg)
c.350T>G (p.Leu117Arg)
c.218T>G (p.Leu73Arg)
n.954T>G
1g.1804499A>GCA337914795GNB1c.311T>C (p.Leu104Pro)
c.50T>C (p.Leu17Pro)
c.350T>C (p.Leu117Pro)
c.218T>C (p.Leu73Pro)
n.954T>C
1g.1804499A>TCA337914798GNB1c.311T>A (p.Leu104Gln)
c.50T>A (p.Leu17Gln)
c.350T>A (p.Leu117Gln)
c.218T>A (p.Leu73Gln)
n.954T>A
1g.1804500G>ACA415404151GNB1c.310C>T (p.Leu104=)
c.49C>T (p.Leu17=)
c.349C>T (p.Leu117=)
c.217C>T (p.Leu73=)
n.953C>T
1g.1804500G>CCA337914804GNB1c.310C>G (p.Leu104Val)
c.49C>G (p.Leu17Val)
c.349C>G (p.Leu117Val)
c.217C>G (p.Leu73Val)
n.953C>G
1g.1804500G>TCA337914802GNB1c.310C>A (p.Leu104Met)
c.49C>A (p.Leu17Met)
c.349C>A (p.Leu117Met)
c.217C>A (p.Leu73Met)
n.953C>A
1g.1804501G>ACA415404152GNB1c.309C>T (p.Gly103=)
c.48C>T (p.Gly16=)
c.348C>T (p.Gly116=)
c.216C>T (p.Gly72=)
n.952C>T
1g.1804501G>CCA415404153GNB1c.309C>G (p.Gly103=)
c.48C>G (p.Gly16=)
c.348C>G (p.Gly116=)
c.216C>G (p.Gly72=)
n.952C>G
1g.1804501G>TCA415404154GNB1c.309C>A (p.Gly103=)
c.48C>A (p.Gly16=)
c.348C>A (p.Gly116=)
c.216C>A (p.Gly72=)
n.952C>A
1g.1804502C>ACA337914809GNB1c.308G>T (p.Gly103Val)
c.47G>T (p.Gly16Val)
c.347G>T (p.Gly116Val)
c.215G>T (p.Gly72Val)
n.951G>T
ClinVar dbSNP
1g.1804502C=CA1149323354GNB1c.308G= (p.Gly103=)
c.47G= (p.Gly16=)
c.347G= (p.Gly116=)
c.215G= (p.Gly72=)
n.951G=
1g.1804502C>GCA337914826GNB1c.308G>C (p.Gly103Ala)
c.47G>C (p.Gly16Ala)
c.347G>C (p.Gly116Ala)
c.215G>C (p.Gly72Ala)
n.951G>C
1g.1804502C>TCA337914812GNB1c.308G>A (p.Gly103Asp)
c.47G>A (p.Gly16Asp)
c.347G>A (p.Gly116Asp)
c.215G>A (p.Gly72Asp)
n.951G>A
ClinVar dbSNP gnomAD v4
1g.1804503C>ACA337914833GNB1c.307G>T (p.Gly103Cys)
c.46G>T (p.Gly16Cys)
c.346G>T (p.Gly116Cys)
c.214G>T (p.Gly72Cys)
n.950G>T
1g.1804503C=CA1149323355GNB1c.307G= (p.Gly103=)
c.46G= (p.Gly16=)
c.346G= (p.Gly116=)
c.214G= (p.Gly72=)
n.950G=
1g.1804503C>GCA337914848GNB1c.307G>C (p.Gly103Arg)
c.46G>C (p.Gly16Arg)
c.346G>C (p.Gly116Arg)
c.214G>C (p.Gly72Arg)
n.950G>C
1g.1804503C>TCA337914852GNB1c.307G>A (p.Gly103Ser)
c.46G>A (p.Gly16Ser)
c.346G>A (p.Gly116Ser)
c.214G>A (p.Gly72Ser)
n.950G>A
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.1804504A>CCA415404155GNB1c.306T>G (p.Gly102=)
c.45T>G (p.Gly15=)
c.345T>G (p.Gly115=)
c.213T>G (p.Gly71=)
n.949T>G
1g.1804504A>GCA415404156GNB1c.306T>C (p.Gly102=)
c.45T>C (p.Gly15=)
c.345T>C (p.Gly115=)
c.213T>C (p.Gly71=)
n.949T>C
1g.1804504A>TCA415404157GNB1c.306T>A (p.Gly102=)
c.45T>A (p.Gly15=)
c.345T>A (p.Gly115=)
c.213T>A (p.Gly71=)
n.949T>A
1g.1804505C>ACA337914857GNB1c.305G>T (p.Gly102Val)
c.44G>T (p.Gly15Val)
c.344G>T (p.Gly115Val)
c.212G>T (p.Gly71Val)
n.948G>T
1g.1804505C>GCA337914862GNB1c.305G>C (p.Gly102Ala)
c.44G>C (p.Gly15Ala)
c.344G>C (p.Gly115Ala)
c.212G>C (p.Gly71Ala)
n.948G>C
1g.1804505C>TCA337914864GNB1c.305G>A (p.Gly102Asp)
c.44G>A (p.Gly15Asp)
c.344G>A (p.Gly115Asp)
c.212G>A (p.Gly71Asp)
n.948G>A
1g.1804506C>ACA337914870GNB1c.304G>T (p.Gly102Cys)
c.43G>T (p.Gly15Cys)
c.343G>T (p.Gly115Cys)
c.211G>T (p.Gly71Cys)
n.947G>T
COSMIC
1g.1804506C=CA1149323356GNB1c.304G= (p.Gly102=)
c.43G= (p.Gly15=)
c.343G= (p.Gly115=)
c.211G= (p.Gly71=)
n.947G=
1g.1804506C>GCA337914872GNB1c.304G>C (p.Gly102Arg)
c.43G>C (p.Gly15Arg)
c.343G>C (p.Gly115Arg)
c.211G>C (p.Gly71Arg)
n.947G>C
1g.1804506C>TCA337914875GNB1c.304G>A (p.Gly102Ser)
c.43G>A (p.Gly15Ser)
c.343G>A (p.Gly115Ser)
c.211G>A (p.Gly71Ser)
n.947G>A
ClinVar dbSNP
1g.1804507G>ACA532046GNB1c.303C>T (p.Cys101=)
c.42C>T (p.Cys14=)
c.342C>T (p.Cys114=)
c.210C>T (p.Cys70=)
n.946C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1804507G>CCA337914882GNB1c.303C>G (p.Cys101Trp)
c.42C>G (p.Cys14Trp)
c.342C>G (p.Cys114Trp)
c.210C>G (p.Cys70Trp)
n.946C>G
1g.1804507G=CA1146431179GNB1c.303C= (p.Cys101=)
c.42C= (p.Cys14=)
c.342C= (p.Cys114=)
c.210C= (p.Cys70=)
n.946C=
1g.1804507G>TCA337914884GNB1c.303C>A (p.Cys101Ter)
c.42C>A (p.Cys14Ter)
c.342C>A (p.Cys114Ter)
c.210C>A (p.Cys70Ter)
n.946C>A
1g.1804508C>ACA337914886GNB1c.302G>T (p.Cys101Phe)
c.41G>T (p.Cys14Phe)
c.341G>T (p.Cys114Phe)
c.209G>T (p.Cys70Phe)
n.945G>T
1g.1804508C=CA1149323357GNB1c.302G= (p.Cys101=)
c.41G= (p.Cys14=)
c.341G= (p.Cys114=)
c.209G= (p.Cys70=)
n.945G=
1g.1804508C>GCA337914888GNB1c.302G>C (p.Cys101Ser)
c.41G>C (p.Cys14Ser)
c.341G>C (p.Cys114Ser)
c.209G>C (p.Cys70Ser)
n.945G>C
dbSNP gnomAD v3 gnomAD v4
1g.1804508C>TCA337914887GNB1c.302G>A (p.Cys101Tyr)
c.41G>A (p.Cys14Tyr)
c.341G>A (p.Cys114Tyr)
c.209G>A (p.Cys70Tyr)
n.945G>A
ClinVar dbSNP gnomAD v4
1g.1804509A>CCA337914889GNB1c.301T>G (p.Cys101Gly)
c.40T>G (p.Cys14Gly)
c.340T>G (p.Cys114Gly)
c.208T>G (p.Cys70Gly)
n.944T>G
1g.1804509A>GCA337914893GNB1c.301T>C (p.Cys101Arg)
c.40T>C (p.Cys14Arg)
c.340T>C (p.Cys114Arg)
c.208T>C (p.Cys70Arg)
n.944T>C
1g.1804509A>TCA337914894GNB1c.301T>A (p.Cys101Ser)
c.40T>A (p.Cys14Ser)
c.340T>A (p.Cys114Ser)
c.208T>A (p.Cys70Ser)
n.944T>A
1g.1804510G>ACA532047GNB1c.300C>T (p.Ala100=)
c.39C>T (p.Ala13=)
c.339C>T (p.Ala113=)
c.207C>T (p.Ala69=)
n.943C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1804510G>CCA415404158GNB1c.300C>G (p.Ala100=)
c.39C>G (p.Ala13=)
c.339C>G (p.Ala113=)
c.207C>G (p.Ala69=)
n.943C>G
1g.1804510G=CA1149323358GNB1c.300C= (p.Ala100=)
c.39C= (p.Ala13=)
c.339C= (p.Ala113=)
c.207C= (p.Ala69=)
n.943C=
1g.1804510G>TCA415404159GNB1c.300C>A (p.Ala100=)
c.39C>A (p.Ala13=)
c.339C>A (p.Ala113=)
c.207C>A (p.Ala69=)
n.943C>A
dbSNP
1g.1804511G>ACA337914895GNB1c.299C>T (p.Ala100Val)
c.38C>T (p.Ala13Val)
c.338C>T (p.Ala113Val)
c.206C>T (p.Ala69Val)
n.942C>T
1g.1804511G>CCA337914906GNB1c.299C>G (p.Ala100Gly)
c.38C>G (p.Ala13Gly)
c.338C>G (p.Ala113Gly)
c.206C>G (p.Ala69Gly)
n.942C>G
1g.1804511G>TCA337914910GNB1c.299C>A (p.Ala100Asp)
c.38C>A (p.Ala13Asp)
c.338C>A (p.Ala113Asp)
c.206C>A (p.Ala69Asp)
n.942C>A
1g.1804512C>ACA337914918GNB1c.298G>T (p.Ala100Ser)
c.37G>T (p.Ala13Ser)
c.337G>T (p.Ala113Ser)
c.205G>T (p.Ala69Ser)
n.941G>T
1g.1804512C>GCA337914922GNB1c.298G>C (p.Ala100Pro)
c.37G>C (p.Ala13Pro)
c.337G>C (p.Ala113Pro)
c.205G>C (p.Ala69Pro)
n.941G>C
1g.1804512C>TCA337914925GNB1c.298G>A (p.Ala100Thr)
c.37G>A (p.Ala13Thr)
c.337G>A (p.Ala113Thr)
c.205G>A (p.Ala69Thr)
n.941G>A
1g.1804513C>ACA415404160GNB1c.297G>T (p.Val99=)
c.36G>T (p.Val12=)
c.336G>T (p.Val112=)
c.204G>T (p.Val68=)
n.940G>T
gnomAD v4
1g.1804513C>GCA415404161GNB1c.297G>C (p.Val99=)
c.36G>C (p.Val12=)
c.336G>C (p.Val112=)
c.204G>C (p.Val68=)
n.940G>C
1g.1804513C>TCA415404162GNB1c.297G>A (p.Val99=)
c.36G>A (p.Val12=)
c.336G>A (p.Val112=)
c.204G>A (p.Val68=)
n.940G>A
ClinVar gnomAD v4
1g.1804514A>CCA337914931GNB1c.296T>G (p.Val99Gly)
c.35T>G (p.Val12Gly)
c.335T>G (p.Val112Gly)
c.203T>G (p.Val68Gly)
n.939T>G
1g.1804514A>GCA337914934GNB1c.296T>C (p.Val99Ala)
c.35T>C (p.Val12Ala)
c.335T>C (p.Val112Ala)
c.203T>C (p.Val68Ala)
n.939T>C
1g.1804514A>TCA337914929GNB1c.296T>A (p.Val99Glu)
c.35T>A (p.Val12Glu)
c.335T>A (p.Val112Glu)
c.203T>A (p.Val68Glu)
n.939T>A
1g.1804515C>ACA337914940GNB1c.295G>T (p.Val99Leu)
c.34G>T (p.Val12Leu)
c.334G>T (p.Val112Leu)
c.202G>T (p.Val68Leu)
n.938G>T
1g.1804515C>GCA337914946GNB1c.295G>C (p.Val99Leu)
c.34G>C (p.Val12Leu)
c.334G>C (p.Val112Leu)
c.202G>C (p.Val68Leu)
n.938G>C
1g.1804515C>TCA337914950GNB1c.295G>A (p.Val99Met)
c.34G>A (p.Val12Met)
c.334G>A (p.Val112Met)
c.202G>A (p.Val68Met)
n.938G>A
1g.1804516A=CA1149114479GNB1c.294T= (p.Tyr98=)
c.33T= (p.Tyr11=)
c.333T= (p.Tyr111=)
c.201T= (p.Tyr67=)
n.937T=
1g.1804516A>CCA337914952GNB1c.294T>G (p.Tyr98Ter)
c.33T>G (p.Tyr11Ter)
c.333T>G (p.Tyr111Ter)
c.201T>G (p.Tyr67Ter)
n.937T>G
1g.1804516A>GCA532048GNB1c.294T>C (p.Tyr98=)
c.33T>C (p.Tyr11=)
c.333T>C (p.Tyr111=)
c.201T>C (p.Tyr67=)
n.937T>C
dbSNP ExAC gnomAD v2 gnomAD v4
1g.1804516A>TCA337914957GNB1c.294T>A (p.Tyr98Ter)
c.33T>A (p.Tyr11Ter)
c.333T>A (p.Tyr111Ter)
c.201T>A (p.Tyr67Ter)
n.937T>A
1g.1804517T>ACA337914963GNB1c.293A>T (p.Tyr98Phe)
c.32A>T (p.Tyr11Phe)
c.332A>T (p.Tyr111Phe)
c.200A>T (p.Tyr67Phe)
n.936A>T
1g.1804517T>CCA337914958GNB1c.293A>G (p.Tyr98Cys)
c.32A>G (p.Tyr11Cys)
c.332A>G (p.Tyr111Cys)
c.200A>G (p.Tyr67Cys)
n.936A>G
ClinVar dbSNP gnomAD v4
1g.1804517T>GCA337914959GNB1c.293A>C (p.Tyr98Ser)
c.32A>C (p.Tyr11Ser)
c.332A>C (p.Tyr111Ser)
c.200A>C (p.Tyr67Ser)
n.936A>C
1g.1804517T=CA1149323359GNB1c.293A= (p.Tyr98=)
c.32A= (p.Tyr11=)
c.332A= (p.Tyr111=)
c.200A= (p.Tyr67=)
n.936A=
1g.1804518A>CCA337914970GNB1c.292T>G (p.Tyr98Asp)
c.31T>G (p.Tyr11Asp)
c.331T>G (p.Tyr111Asp)
c.199T>G (p.Tyr67Asp)
n.935T>G
1g.1804518A>GCA337914974GNB1c.292T>C (p.Tyr98His)
c.31T>C (p.Tyr11His)
c.331T>C (p.Tyr111His)
c.199T>C (p.Tyr67His)
n.935T>C
1g.1804518A>TCA337914975GNB1c.292T>A (p.Tyr98Asn)
c.31T>A (p.Tyr11Asn)
c.331T>A (p.Tyr111Asn)
c.199T>A (p.Tyr67Asn)
n.935T>A
1g.1804519G>ACA415404163GNB1c.291C>T (p.Asn97=)
c.30C>T (p.Asn10=)
c.330C>T (p.Asn110=)
c.198C>T (p.Asn66=)
n.934C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1804519G>CCA337914976GNB1c.291C>G (p.Asn97Lys)
c.30C>G (p.Asn10Lys)
c.330C>G (p.Asn110Lys)
c.198C>G (p.Asn66Lys)
n.934C>G
1g.1804519G=CA1149323360GNB1c.291C= (p.Asn97=)
c.30C= (p.Asn10=)
c.330C= (p.Asn110=)
c.198C= (p.Asn66=)
n.934C=
1g.1804519G>TCA337914977GNB1c.291C>A (p.Asn97Lys)
c.30C>A (p.Asn10Lys)
c.330C>A (p.Asn110Lys)
c.198C>A (p.Asn66Lys)
n.934C>A
1g.1804520T>ACA337914979GNB1c.290A>T (p.Asn97Ile)
c.29A>T (p.Asn10Ile)
c.329A>T (p.Asn110Ile)
c.197A>T (p.Asn66Ile)
n.933A>T
1g.1804520T>CCA337915005GNB1c.290A>G (p.Asn97Ser)
c.29A>G (p.Asn10Ser)
c.329A>G (p.Asn110Ser)
c.197A>G (p.Asn66Ser)
n.933A>G
gnomAD v4
1g.1804520T>GCA337914985GNB1c.290A>C (p.Asn97Thr)
c.29A>C (p.Asn10Thr)
c.329A>C (p.Asn110Thr)
c.197A>C (p.Asn66Thr)
n.933A>C

Number of alleles fetched