Genename |
Variants |
B3GNT4(NM_030765,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4,378aa) |
g.12:122691058T>C,c.260T>C,p.L87P |
B3GNT4(NM_030765,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4,378aa) |
g.12:122691045T>A,c.247T>A,p.S83T |
B3GNT4(NM_030765,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4,378aa) |
g.12:122689181C>G,c.16C>G,p.P6A |
B3GNT3(NM_014256,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3,372aa) |
g.19:17922795G>A,c.983G>A,p.R328H |
B3GNT3(NM_014256,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3,372aa) |
g.19:17922768C>T,c.956C>T,p.T319M |
B3GNT3(NM_014256,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3,372aa) |
g.19:17922666G>A,c.854G>A,p.R285H |
B3GNT3(NM_014256,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3,372aa) |
g.19:17922470A>G,c.658A>G,p.M220V |
B3GNT3(NM_014256,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3,372aa) |
g.19:17918650A>G,c.34A>G,p.T12A |
B3GNT2(NM_006577,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2,397aa) |
g.2:62449932G>A,c.577G>A,p.D193N |
B3GNT2(NM_006577,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2,397aa) |
g.2:62449868_62449869insG,c.513_514insG,p.171fs |
B3GNT2(NM_006577,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2,397aa) |
g.2:62449763T>A,c.408T>A,p.D136E |
B3GNT2(NM_006577,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2,397aa) |
g.2:62449428A>G,c.73A>G,p.M25V |
B3GNT1(NM_006876,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1,415aa) |
g.11:66114662G>T,c.355C>A,p.P119T |
B3GNT1(NM_006876,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1,415aa) |
g.11:66114245G>C,c.772C>G,p.P258A |
B3GAT3(NM_012200,beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I),335aa) |
g.11:62384793C>T,c.284G>A,p.R95Q |
B3GAT3(NM_012200,beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I),335aa) |
g.11:62384764G>A,c.313C>T,p.R105W |
B3GAT3(NM_012200,beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I),335aa) |
g.11:62384523C>T,c.554G>A,p.G185E |
B3GAT3(NM_012200,beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I),335aa) |
g.11:62384178C>T,c.709G>A,p.V237M |
B3GAT3(NM_012200,beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I),335aa) |
g.11:62384115C>T,c.772G>A,p.V258M |
B3GAT2(NM_080742,beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S),323aa) |
g.6:71665982G>C,c.151C>G,p.R51G |
B3GAT2(NM_080742,beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S),323aa) |
g.6:71665759A>T,c.374T>A,p.L125Q |
B3GAT2(NM_080742,beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S),323aa) |
g.6:71571624C>T,c.794G>A,p.R265H |
B3GAT2(NM_080742,beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S),323aa) |
g.6:71571383C>T,c.955G>A,p.V319M |
B3GAT1(NM_054025,beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P),334aa) |
g.11:134253804C>T,c.391G>A,p.A131T |
B3GAT1(NM_054025,beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P),334aa) |
g.11:134252719C>T,c.803G>A,p.R268Q |
B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) |
g.13:31903713G>T,c.1405G>T,p.D469Y |
B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) |
g.13:31898027C>T,c.1324C>T,p.H442Y |
B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) |
g.13:31897910G>A,c.1207G>A,p.V403I |