基因名 突变
DYNC1I1(NM_004411,dynein, cytoplasmic 1, intermediate chain 1,645aa) g.7:95442514C>T,c.230C>T,p.P77L
DYNC1I1(NM_004411,dynein, cytoplasmic 1, intermediate chain 1,645aa) g.7:95442510C>G,c.226C>G,p.Q76E
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102514304A>G,c.13157A>G,p.N4386S
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102508056C>A,c.12087C>A,p.H4029Q
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102507911C>G,c.11942C>G,p.T3981R
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102506647C>T,c.11765C>T,p.P3922L
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102506631A>C,c.11749A>C,p.S3917R
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102494100G>A,c.9193G>A,p.V3065M
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102482413G>A,c.7463G>A,p.R2488H
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102481619C>T,c.7192C>T,p.R2398C
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102471466G>A,c.5326G>A,p.A1776T
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102467693C>T,c.4395+2C>T,p.1465Donor
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102452056G>C,c.1494G>C,p.E498D
DYNC1H1(NM_001376,dynein, cytoplasmic 1, heavy chain 1,4646aa) g.14:102446171A>G,c.634A>G,p.M212V
DYNAP(NM_173629,dynactin associated protein,210aa) g.18:52265365G>A,c.622G>A,p.D208N
DYNAP(NM_173629,dynactin associated protein,210aa) g.18:52265308A>C,c.565A>C,p.T189P
DYNAP(NM_173629,dynactin associated protein,210aa) g.18:52265117T>C,c.374T>C,p.M125T
DYNAP(NM_173629,dynactin associated protein,210aa) g.18:52265059C>T,c.316C>T,p.R106C
DYNAP(NM_173629,dynactin associated protein,210aa) g.18:52258548T>C,c.113T>C,p.V38A
DYM(NM_017653,dymeclin,669aa) g.18:46956757G>A,c.8C>T,p.S3L
DYM(NM_017653,dymeclin,669aa) g.18:46904937T>C,c.421A>G,p.S141G
DYM(NM_017653,dymeclin,669aa) g.18:46860218A>T,c.500T>A,p.I167N
DYM(NM_017653,dymeclin,669aa) g.18:46808512G>T,c.980C>A,p.A327D
DYM(NM_017653,dymeclin,669aa) g.18:46623873A>G,c.1759T>C,p.F587L
DYM(NM_017653,dymeclin,669aa) g.18:46623854T>C,c.1778A>G,p.Q593R
DYM(NM_017653,dymeclin,669aa) g.18:46623780T>C,c.1852A>G,p.R618G
DYDC2(NM_032372,DPY30 domain containing 2,177aa) g.10:82126600G>A,c.427G>A,p.G143S
DYDC2(NM_032372,DPY30 domain containing 2,177aa) g.10:82126541C>G,c.368C>G,p.P123R
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org