基因名 突变
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11303830C>T,c.926G>A,p.R309Q
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11303789T>C,c.967A>G,p.S323G
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11303785G>A,c.971C>T,p.P324L
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11303780G>A,c.976C>T,p.R326C
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11303561C>T,c.1195G>A,p.V399I
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11303554A>G,c.1202T>C,p.M401T
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11289357G>A,c.1289C>T,p.P430L
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11289277G>A,c.1369C>T,p.P457S
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11287482G>A,c.1532C>T,p.S511L
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11287387C>T,c.1627G>A,p.E543K
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11287353G>A,c.1661C>T,p.A554V
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11277278T>C,c.2512A>G,p.M838V
KANK2(NM_001136191,KN motif and ankyrin repeat domains 2,851aa) g.19:11277247G>A,c.2543C>T,p.S848L
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:742230C>T,c.3722C>T,p.A1241V
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:740875G>A,c.3637G>A,p.D1213N
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:740800A>G,c.3562A>G,p.N1188D
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:738405C>T,c.3454C>T,p.R1152C
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:738394C>G,c.3443C>G,p.P1148R
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:732536T>C,c.3164T>C,p.I1055T
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:732502_732503insG,c.3130_3131insG,p.1044fs
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:732475_732477del,c.3103_3105del,p.1035del
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:732392C>G,c.3020C>G,p.S1007X
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:730233G>A,c.2881G>A,p.A961T
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:730168G>A,c.2816G>A,p.S939N
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:730054A>G,c.2702A>G,p.N901S
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:713428C>G,c.2662C>G,p.P888A
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:713383A>G,c.2617A>G,p.I873V
KANK1(NM_001256877,KN motif and ankyrin repeat domains 1,1352aa) g.9:713381C>G,c.2615C>G,p.S872C
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