基因名 |
突变 |
AHCYL2(NM_015328,adenosylhomocysteinase-like 2,611aa) |
g.7:129019478G>A,c.364-1G>A,p.122Acceptor |
AHCYL1(NM_001242673,adenosylhomocysteinase-like 1,483aa) |
g.1:110561013C>T,c.1001C>T,p.T334I |
AHCYL1(NM_001242673,adenosylhomocysteinase-like 1,483aa) |
g.1:110557444C>T,c.499C>T,p.R167C |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247081668C>T,c.32G>A,p.R11Q |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247081563T>G,c.137A>C,p.K46T |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247079641T>C,c.205A>G,p.I69V |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247079598T>C,c.248A>G,p.N83S |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247076631del,c.486del,p.162fs |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247065928A>G,c.1043T>C,p.M348T |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247065917T>C,c.1054A>G,p.R352G |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247061624_247061625insA,c.1535_1536insT,p.512fs |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247058005G>A,c.1787C>T,p.T596M |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247054344T>C,c.1991A>G,p.N664S |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247053355G>C,c.2084C>G,p.S695C |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247053296G>A,c.2143C>T,p.R715C |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247053277C>T,c.2162G>A,p.R721H |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247048834T>C,c.2648A>G,p.N883S |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247040531T>C,c.2761A>G,p.M921V |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247025341G>A,c.3682C>T,p.P1228S |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247024326G>A,c.4034C>T,p.T1345M |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247024288T>C,c.4072A>G,p.T1358A |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247019123G>C,c.4290C>G,p.I1430M |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247019061G>A,c.4352C>T,p.T1451I |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247016599T>C,c.4384A>G,p.M1462V |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247016530G>A,c.4453C>T,p.R1485C |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247016529C>T,c.4454G>A,p.R1485H |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247014632G>C,c.4703C>G,p.T1568S |
AHCTF1(NM_015446,AT hook containing transcription factor 1,2275aa) |
g.1:247013941G>C,c.5394C>G,p.I1798M |