Genename |
Variants |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138719376G>A,c.1100C>T,p.A367V |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138719301G>A,c.1175C>T,p.A392V |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138719271G>A,c.1205C>T,p.P402L |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138715799_138715800insT,c.1396_1397insA,p.466fs |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138715080G>A,c.1427C>T,p.A476V |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138714948G>A,c.1559C>T,p.T520M |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138714814G>A,c.1693C>T,p.R565W |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138714529_138714530insG,c.1977_1978insC,p.659fs |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138714373C>T,c.2134G>A,p.E712K |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138713802A>T,c.2705T>A,p.L902Q |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138713322T>C,c.3185A>G,p.N1062S |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138713232C>T,c.3275G>A,p.R1092Q |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138713193G>A,c.3314C>T,p.A1105V |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138713020_138713021insC,c.3486_3487insG,p.1162fs |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138713017A>G,c.3490T>C,p.C1164R |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138712896C>T,c.3611G>A,p.S1204N |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138712860G>A,c.3647C>T,p.S1216L |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138712707G>A,c.3800C>T,p.P1267L |
CAMSAP1(NM_015447,calmodulin regulated spectrin-associated protein 1,1602aa) |
g.9:138706941G>A,c.4506+2C>T,p.1502Donor |
CAMP(NM_004345,cathelicidin antimicrobial peptide,173aa) |
g.3:48266835A>G,c.443A>G,p.K148R |
CAMP(NM_004345,cathelicidin antimicrobial peptide,173aa) |
g.3:48266783G>T,c.391G>T,p.D131Y |
CAMP(NM_004345,cathelicidin antimicrobial peptide,173aa) |
g.3:48266157G>A,c.383G>A,p.C128Y |
CAMP(NM_004345,cathelicidin antimicrobial peptide,173aa) |
g.3:48266128_48266134del,c.354_360del,p.118fs |
CAMP(NM_004345,cathelicidin antimicrobial peptide,173aa) |
g.3:48266106G>A,c.332G>A,p.C111Y |
CAMP(NM_004345,cathelicidin antimicrobial peptide,173aa) |
g.3:48265908C>T,c.275C>T,p.T92M |
CAMP(NM_004345,cathelicidin antimicrobial peptide,173aa) |
g.3:48265170C>T,c.178C>T,p.R60C |
CAMP(NM_004345,cathelicidin antimicrobial peptide,173aa) |
g.3:48265161A>G,c.169A>G,p.N57D |
CAMP(NM_004345,cathelicidin antimicrobial peptide,173aa) |
g.3:48265147G>A,c.155G>A,p.R52Q |