Genename |
Variants |
AJAP1(NM_018836,adherens junctions associated protein 1,411aa) |
g.1:4772535G>A,c.605G>A,p.G202D |
AJAP1(NM_018836,adherens junctions associated protein 1,411aa) |
g.1:4772034C>T,c.104C>T,p.A35V |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45714294C>T,c.1411C>T,p.R471C |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45713715C>T,c.1322C>T,p.T441M |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45713024A>G,c.1244A>G,p.H415R |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45712949C>T,c.1169C>T,p.T390M |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45712898C>T,c.1118C>T,p.A373V |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45712895C>T,c.1115C>T,p.S372L |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45712283C>T,c.1094C>T,p.P365L |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45711006G>A,c.908G>A,p.R303Q |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45709906C>G,c.834C>G,p.S278R |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45708342G>T,c.652+1G>T,p.218Donor |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45708288C>T,c.599C>T,p.P200L |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45708284G>A,c.595G>A,p.V199I |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45708278G>A,c.589G>A,p.G197R |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45707457G>A,c.521G>A,p.R174H |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45706924C>T,c.371C>T,p.P124L |
AIRE(NM_000383,autoimmune regulator,545aa) |
g.21:45706900C>T,c.347C>T,p.P116L |
AIP(NM_003977,aryl hydrocarbon receptor interacting protein,330aa) |
g.11:67258438C>T,c.967C>T,p.R323W |
AIP(NM_003977,aryl hydrocarbon receptor interacting protein,330aa) |
g.11:67258391A>G,c.920A>G,p.Q307R |
AIP(NM_003977,aryl hydrocarbon receptor interacting protein,330aa) |
g.11:67258382G>A,c.911G>A,p.R304Q |
AIP(NM_003977,aryl hydrocarbon receptor interacting protein,330aa) |
g.11:67258278C>T,c.807C>T,p.F269F |
AIP(NM_003977,aryl hydrocarbon receptor interacting protein,330aa) |
g.11:67257823C>A,c.682C>A,p.Q228K |
AIP(NM_003977,aryl hydrocarbon receptor interacting protein,330aa) |
g.11:67257611C>T,c.571C>T,p.R191C |
AIP(NM_003977,aryl hydrocarbon receptor interacting protein,330aa) |
g.11:67257538del,c.498del,p.166fs |
AIP(NM_003977,aryl hydrocarbon receptor interacting protein,330aa) |
g.11:67250676G>A,c.47G>A,p.R16H |
AIPL1(NM_014336,aryl hydrocarbon receptor interacting protein-like 1,384aa) |
g.17:6337403G>A,c.112C>T,p.R38C |
AIPL1(NM_014336,aryl hydrocarbon receptor interacting protein-like 1,384aa) |
g.17:6337375G>C,c.140C>G,p.T47R |