Genename |
Variants |
C7(NM_000587,complement component 7,843aa) |
g.5:40945397G>A,c.665G>A,p.R222H |
C7(NM_000587,complement component 7,843aa) |
g.5:40945391G>A,c.659G>A,p.R220Q |
C7(NM_000587,complement component 7,843aa) |
g.5:40945322A>G,c.590A>G,p.N197S |
C7(NM_000587,complement component 7,843aa) |
g.5:40936541T>C,c.382T>C,p.C128R |
C7(NM_000587,complement component 7,843aa) |
g.5:40931237C>T,c.134C>T,p.T45I |
C6orf99(NM_001195032,chromosome 6 open reading frame 99,125aa) |
g.6:159331208C>T,c.341C>T,p.T114M |
C6orf99(NM_001195032,chromosome 6 open reading frame 99,125aa) |
g.6:159331198_159331199insA,c.331_332insA,p.111fs |
C6orf99(NM_001195032,chromosome 6 open reading frame 99,125aa) |
g.6:159331066G>A,c.199G>A,p.G67S |
C6orf89(NM_152734,chromosome 6 open reading frame 89,354aa) |
g.6:36887382T>C,c.875T>C,p.I292T |
C6orf89(NM_152734,chromosome 6 open reading frame 89,354aa) |
g.6:36867372C>A,c.173C>A,p.P58H |
C6orf7(NM_001243308,chromosome 6 open reading frame 7,120aa) |
g.6:80580038T>G,c.1A>C,p.M1L |
C6orf7(NM_001243308,chromosome 6 open reading frame 7,120aa) |
g.6:80513614G>A,c.341C>T,p.A114V |
C6orf58(NM_001010905,chromosome 6 open reading frame 58,330aa) |
g.6:127912730C>T,c.956C>T,p.S319L |
C6orf58(NM_001010905,chromosome 6 open reading frame 58,330aa) |
g.6:127911453A>G,c.896A>G,p.N299S |
C6orf58(NM_001010905,chromosome 6 open reading frame 58,330aa) |
g.6:127911408C>G,c.851C>G,p.T284S |
C6orf58(NM_001010905,chromosome 6 open reading frame 58,330aa) |
g.6:127898391G>A,c.61G>A,p.G21R |
C6orf58(NM_001010905,chromosome 6 open reading frame 58,330aa) |
g.6:127898374T>G,c.44T>G,p.F15C |
C6orf57(NM_145267,chromosome 6 open reading frame 57,108aa) |
g.6:71298411G>A,c.311G>A,p.R104H |
C6orf57(NM_145267,chromosome 6 open reading frame 57,108aa) |
g.6:71298323C>T,c.223C>T,p.P75S |
C6orf57(NM_145267,chromosome 6 open reading frame 57,108aa) |
g.6:71289221C>T,c.169C>T,p.R57C |
C6orf57(NM_145267,chromosome 6 open reading frame 57,108aa) |
g.6:71289189A>G,c.137A>G,p.Q46R |
C6orf57(NM_145267,chromosome 6 open reading frame 57,108aa) |
g.6:71276675G>A,c.32G>A,p.S11N |
C6orf57(NM_145267,chromosome 6 open reading frame 57,108aa) |
g.6:71276670G>T,c.27G>T,p.L9F |
C6orf52(NM_001145020,chromosome 6 open reading frame 52,152aa) |
g.6:10694725A>G,c.-12+2T>C,p.5'UTRDonor |
C6orf52(NM_001145020,chromosome 6 open reading frame 52,152aa) |
g.6:10687746G>T,c.38C>A,p.A13D |
C6orf52(NM_001145020,chromosome 6 open reading frame 52,152aa) |
g.6:10687344C>T,c.125G>A,p.R42H |
C6orf52(NM_001145020,chromosome 6 open reading frame 52,152aa) |
g.6:10671717G>A,c.431C>T,p.S144F |
C6orf48(NM_001040437,chromosome 6 open reading frame 48,75aa) |
g.6:31807343C>T,c.131C>T,p.P44L |