基因名 突变
DMXL1(NM_005509,Dmx-like 1,3027aa) g.5:118454599T>C,c.833T>C,p.L278P
DMXL1(NM_005509,Dmx-like 1,3027aa) g.5:118433713G>A,c.127G>A,p.D43N
DMWD(NM_004943,dystrophia myotonica, WD repeat containing,674aa) g.19:46295611T>C,c.404A>G,p.Y135C
DMWD(NM_004943,dystrophia myotonica, WD repeat containing,674aa) g.19:46289009G>A,c.1745C>T,p.A582V
DMTN(NM_001978,dematin actin binding protein,405aa) g.8:21937926C>A,c.904C>A,p.Q302K
DMTN(NM_001978,dematin actin binding protein,405aa) g.8:21929924A>G,c.692A>G,p.K231R
DMTN(NM_001978,dematin actin binding protein,405aa) g.8:21926528G>A,c.251G>A,p.R84H
DMTN(NM_001978,dematin actin binding protein,405aa) g.8:21924633G>A,c.56G>A,p.R19Q
DMTF1(NM_021145,cyclin D binding myb-like transcription factor 1,760aa) g.7:86824064T>C,c.2093T>C,p.I698T
DMTF1(NM_021145,cyclin D binding myb-like transcription factor 1,760aa) g.7:86823221A>G,c.1831A>G,p.T611A
DMTF1(NM_021145,cyclin D binding myb-like transcription factor 1,760aa) g.7:86823174T>C,c.1784T>C,p.I595T
DMTF1(NM_021145,cyclin D binding myb-like transcription factor 1,760aa) g.7:86820284G>A,c.1435G>A,p.V479I
DMTF1(NM_021145,cyclin D binding myb-like transcription factor 1,760aa) g.7:86820275C>T,c.1426C>T,p.P476S
DMTF1(NM_021145,cyclin D binding myb-like transcription factor 1,760aa) g.7:86817543G>A,c.1337G>A,p.R446H
DMTF1(NM_021145,cyclin D binding myb-like transcription factor 1,760aa) g.7:86817467G>A,c.1261G>A,p.E421K
DMTF1(NM_021145,cyclin D binding myb-like transcription factor 1,760aa) g.7:86817456C>G,c.1250C>G,p.P417R
DMTF1(NM_021145,cyclin D binding myb-like transcription factor 1,760aa) g.7:86800364G>C,c.286G>C,p.A96P
DMTF1(NM_021145,cyclin D binding myb-like transcription factor 1,760aa) g.7:86795881_86795883del,c.192_194del,p.64_65del
DMRTC2(NM_001040283,DMRT-like family C2,367aa) g.19:42354607C>T,c.830C>T,p.S277L
DMRTC2(NM_001040283,DMRT-like family C2,367aa) g.19:42352999G>A,c.584G>A,p.R195H
DMRTB1(NM_033067,DMRT-like family B with proline-rich C-terminal, 1,342aa) g.1:53932322A>G,c.1016A>G,p.E339G
DMRTB1(NM_033067,DMRT-like family B with proline-rich C-terminal, 1,342aa) g.1:53930352C>T,c.793C>T,p.P265S
DMRTB1(NM_033067,DMRT-like family B with proline-rich C-terminal, 1,342aa) g.1:53930351_53930356del,c.792_797del,p.264_266del
DMRTB1(NM_033067,DMRT-like family B with proline-rich C-terminal, 1,342aa) g.1:53930341G>T,c.782G>T,p.S261I
DMRTB1(NM_033067,DMRT-like family B with proline-rich C-terminal, 1,342aa) g.1:53927262C>T,c.694C>T,p.P232S
DMRTB1(NM_033067,DMRT-like family B with proline-rich C-terminal, 1,342aa) g.1:53927173G>A,c.605G>A,p.R202H
DMRTB1(NM_033067,DMRT-like family B with proline-rich C-terminal, 1,342aa) g.1:53925389T>C,c.263T>C,p.V88A
DMRTB1(NM_033067,DMRT-like family B with proline-rich C-terminal, 1,342aa) g.1:53925332T>G,c.206T>G,p.L69R
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