Genename |
Variants |
CCDC121(NM_001142683,coiled-coil domain containing 121,440aa) |
g.2:27850459G>A,c.694C>T,p.R232X |
CCDC121(NM_001142683,coiled-coil domain containing 121,440aa) |
g.2:27850277T>A,c.876A>T,p.K292N |
CCDC121(NM_001142683,coiled-coil domain containing 121,440aa) |
g.2:27849929_27849930del,c.1223_1224del,p.408fs |
CCDC121(NM_001142683,coiled-coil domain containing 121,440aa) |
g.2:27849927A>G,c.1226T>C,p.L409P |
CCDC121(NM_001142683,coiled-coil domain containing 121,440aa) |
g.2:27849865G>A,c.1288C>T,p.P430S |
CCDC120(NM_001271836,coiled-coil domain containing 120,630aa) |
g.X:48925533G>A,c.1778G>A,p.R593H |
CCDC120(NM_001271836,coiled-coil domain containing 120,630aa) |
g.X:48925508C>T,c.1753C>T,p.P585S |
CCDC120(NM_001271836,coiled-coil domain containing 120,630aa) |
g.X:48925388G>A,c.1633G>A,p.A545T |
CCDC120(NM_001271836,coiled-coil domain containing 120,630aa) |
g.X:48925331C>T,c.1576C>T,p.P526S |
CCDC120(NM_001271836,coiled-coil domain containing 120,630aa) |
g.X:48925290G>A,c.1535G>A,p.R512H |
CCDC120(NM_001271836,coiled-coil domain containing 120,630aa) |
g.X:48924896C>A,c.1141C>A,p.L381M |
CCDC120(NM_001271836,coiled-coil domain containing 120,630aa) |
g.X:48924731C>T,c.976C>T,p.R326C |
CCDC120(NM_001271836,coiled-coil domain containing 120,630aa) |
g.X:48923081G>A,c.779G>A,p.R260Q |
CCDC11(NM_145020,coiled-coil domain containing 11,514aa) |
g.18:47788367G>A,c.292C>T,p.R98X |
CCDC11(NM_145020,coiled-coil domain containing 11,514aa) |
g.18:47787602C>T,c.305G>A,p.R102H |
CCDC11(NM_145020,coiled-coil domain containing 11,514aa) |
g.18:47777937G>A,c.691C>T,p.R231C |
CCDC11(NM_145020,coiled-coil domain containing 11,514aa) |
g.18:47777859G>A,c.769C>T,p.R257C |
CCDC11(NM_145020,coiled-coil domain containing 11,514aa) |
g.18:47777244C>T,c.880G>A,p.E294K |
CCDC11(NM_145020,coiled-coil domain containing 11,514aa) |
g.18:47777183A>C,c.941T>G,p.V314G |
CCDC11(NM_145020,coiled-coil domain containing 11,514aa) |
g.18:47769434C>T,c.1049G>A,p.R350H |
CCDC11(NM_145020,coiled-coil domain containing 11,514aa) |
g.18:47753783G>A,c.1513C>T,p.R505C |
CCDC117(NM_173510,coiled-coil domain containing 117,279aa) |
g.22:29182243C>T,c.769C>T,p.R257W |
CCDC117(NM_173510,coiled-coil domain containing 117,279aa) |
g.22:29182169C>T,c.695C>T,p.T232I |
CCDC117(NM_173510,coiled-coil domain containing 117,279aa) |
g.22:29177133G>A,c.437G>A,p.R146Q |
CCDC117(NM_173510,coiled-coil domain containing 117,279aa) |
g.22:29169761T>G,c.234T>G,p.D78E |
CCDC117(NM_173510,coiled-coil domain containing 117,279aa) |
g.22:29169729A>G,c.202A>G,p.K68E |
CCDC116(NM_152612,coiled-coil domain containing 116,613aa) |
g.22:21991120G>A,c.1603G>A,p.A535T |
CCDC116(NM_152612,coiled-coil domain containing 116,613aa) |
g.22:21991072T>C,c.1555T>C,p.C519R |