Genename Variants
FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) g.X:34962425G>T,c.1477G>T,p.D493Y
FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) g.X:34962289G>A,c.1341G>A,p.M447I
FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) g.X:34962282G>A,c.1334G>A,p.S445N
FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) g.X:34962261T>C,c.1313T>C,p.L438P
FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) g.X:34962110C>T,c.1162C>T,p.R388W
FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) g.X:34961580G>T,c.632G>T,p.R211L
FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) g.X:34961492T>C,c.544T>C,p.Y182H
FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) g.X:34961306G>C,c.358G>C,p.E120Q
FAM47B(NM_152631,family with sequence similarity 47, member B,645aa) g.X:34961201G>A,c.253G>A,p.G85S
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34150194T>A,c.202A>T,p.T68S
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34149726G>A,c.670C>T,p.R224C
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34149438T>A,c.958A>T,p.T320S
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34149267C>A,c.1129G>T,p.A377S
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34149128T>C,c.1268A>G,p.N423S
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34148921T>C,c.1475A>G,p.H492R
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34148918G>A,c.1478C>T,p.S493L
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34148762G>A,c.1634C>T,p.P545L
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34148689G>T,c.1707C>A,p.F569L
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34148615C>T,c.1781G>A,p.C594Y
FAM47A(NM_203408,family with sequence similarity 47, member A,791aa) g.X:34148525G>T,c.1871C>A,p.S624Y
FAM46D(NM_001170574,family with sequence similarity 46, member D,389aa) g.X:79698593C>G,c.555C>G,p.D185E
FAM46D(NM_001170574,family with sequence similarity 46, member D,389aa) g.X:79698429G>A,c.391G>A,p.V131I
FAM46C(NM_017709,family with sequence similarity 46, member C,391aa) g.1:118166385G>A,c.895G>A,p.E299K
FAM46C(NM_017709,family with sequence similarity 46, member C,391aa) g.1:118166379G>A,c.889G>A,p.A297T
FAM46C(NM_017709,family with sequence similarity 46, member C,391aa) g.1:118165691C>G,c.201C>G,p.H67Q
FAM46B(NM_052943,family with sequence similarity 46, member B,425aa) g.1:27339103G>T,c.59C>A,p.T20K
FAM46B(NM_052943,family with sequence similarity 46, member B,425aa) g.1:27333442G>A,c.271C>T,p.R91C
FAM46B(NM_052943,family with sequence similarity 46, member B,425aa) g.1:27332983T>C,c.730A>G,p.T244A
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org