Genename Variants
BSPRY(NM_017688,B-box and SPRY domain containing,402aa) g.9:116132216C>T,c.1003C>T,p.R335C
BSPRY(NM_017688,B-box and SPRY domain containing,402aa) g.9:116132092G>C,c.879G>C,p.Q293H
BSPRY(NM_017688,B-box and SPRY domain containing,402aa) g.9:116131911G>A,c.698G>A,p.R233Q
BSPRY(NM_017688,B-box and SPRY domain containing,402aa) g.9:116130610G>A,c.629G>A,p.R210Q
BSPRY(NM_017688,B-box and SPRY domain containing,402aa) g.9:116122866G>A,c.380G>A,p.R127Q
BSPRY(NM_017688,B-box and SPRY domain containing,402aa) g.9:116116596C>T,c.278C>T,p.P93L
BSPH1(NM_001128326,binder of sperm protein homolog 1,132aa) g.19:48495314C>T,c.25G>A,p.V9M
BSPH1(NM_001128326,binder of sperm protein homolog 1,132aa) g.19:48495304G>A,c.35C>T,p.T12M
BSPH1(NM_001128326,binder of sperm protein homolog 1,132aa) g.19:48480716T>G,c.170A>C,p.Y57S
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49701298G>A,c.11587G>A,p.A3863T
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49701035G>A,c.11444G>A,p.S3815N
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49700875C>A,c.11284C>A,p.P3762T
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49700605C>T,c.11014C>T,p.R3672W
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49700582G>A,c.10991G>A,p.R3664Q
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49700471G>T,c.10880G>T,p.G3627V
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49700428G>A,c.10837G>A,p.A3613T
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49699800G>A,c.10522G>A,p.V3508I
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49699602C>T,c.10324C>T,p.R3442W
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49699561G>A,c.10283G>A,p.R3428Q
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49699197A>G,c.9919A>G,p.S3307G
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49698910C>A,c.9632C>A,p.A3211D
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49698684G>A,c.9406G>A,p.A3136T
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49698339C>T,c.9061C>T,p.R3021W
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49698115G>A,c.8837G>A,p.R2946Q
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49698075G>A,c.8797G>A,p.V2933I
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49695180G>A,c.8191G>A,p.G2731R
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49695072G>A,c.8083G>A,p.D2695N
BSN(NM_003458,bassoon presynaptic cytomatrix protein,3926aa) g.3:49694772C>T,c.7783C>T,p.R2595C
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