| Genename | Variants |
|---|---|
| BAAT(NM_001701,bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase),418aa) | g.9:104133278C>T,c.409G>A,p.V137I |
| BAAT(NM_001701,bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase),418aa) | g.9:104130469C>G,c.602G>C,p.R201P |
| BAAT(NM_001701,bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase),418aa) | g.9:104125056A>G,c.911T>C,p.V304A |
| BAALC(NM_024812,brain and acute leukemia, cytoplasmic,145aa) | g.8:104240225A>T,c.336A>T,p.R112S |
| BAALC(NM_024812,brain and acute leukemia, cytoplasmic,145aa) | g.8:104240224G>A,c.335G>A,p.R112K |
| BAALC(NM_024812,brain and acute leukemia, cytoplasmic,145aa) | g.8:104225209C>A,c.223C>A,p.P75T |
| B9D2(NM_030578,B9 protein domain 2,175aa) | g.19:41869392T>C,c.33A>G,p.I11M |
| B9D2(NM_030578,B9 protein domain 2,175aa) | g.19:41860909C>T,c.224G>A,p.R75Q |
| B9D2(NM_030578,B9 protein domain 2,175aa) | g.19:41860760G>A,c.373C>T,p.R125W |
| B9D2(NM_030578,B9 protein domain 2,175aa) | g.19:41860759C>T,c.374G>A,p.R125Q |
| B9D1(NM_001243473,B9 protein domain 1,257aa) | g.17:19265992C>T,c.43G>A,p.A15T |
| B9D1(NM_001243473,B9 protein domain 1,257aa) | g.17:19265952C>T,c.83G>A,p.R28K |
| B9D1(NM_001243473,B9 protein domain 1,257aa) | g.17:19265922G>A,c.113C>T,p.A38V |
| B9D1(NM_001243473,B9 protein domain 1,257aa) | g.17:19251174G>A,c.323C>T,p.A108V |
| B9D1(NM_001243473,B9 protein domain 1,257aa) | g.17:19251136C>T,c.361G>A,p.E121K |
| B9D1(NM_001243473,B9 protein domain 1,257aa) | g.17:19247075G>A,c.559C>T,p.H187Y |
| B9D1(NM_001243473,B9 protein domain 1,257aa) | g.17:19246867T>C,c.767A>G,p.Y256C |
| B4GALT7(NM_007255,xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7,327aa) | g.5:177035996G>A,c.809G>A,p.R270H |
| B4GALT7(NM_007255,xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7,327aa) | g.5:177035924C>T,c.737C>T,p.S246L |
| B4GALT7(NM_007255,xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7,327aa) | g.5:177035597C>T,c.697C>T,p.R233W |
| B4GALT7(NM_007255,xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7,327aa) | g.5:177035576C>T,c.676C>T,p.R226C |
| B4GALT7(NM_007255,xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7,327aa) | g.5:177034478A>G,c.589A>G,p.K197E |
| B4GALT7(NM_007255,xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7,327aa) | g.5:177034356C>T,c.467C>T,p.T156M |
| B4GALT7(NM_007255,xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7,327aa) | g.5:177031407A>G,c.278A>G,p.H93R |
| B4GALT7(NM_007255,xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7,327aa) | g.5:177031406C>T,c.277C>T,p.H93Y |
| B4GALT6(NM_004775,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6,382aa) | g.18:29218660T>C,c.535A>G,p.I179V |
| B4GALT6(NM_004775,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6,382aa) | g.18:29205591T>C,c.1135A>G,p.I379V |
| B4GALT5(NM_004776,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5,388aa) | g.20:48273186C>T,c.169G>A,p.V57M |