Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.7581494G>A | CA8352702 | CD68 | c.1048G>A (p.Ala350Thr) c.967G>A (p.Ala323Thr) c.763G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7581494G>C | CA397832841 | CD68 | c.1048G>C (p.Ala350Pro) c.967G>C (p.Ala323Pro) c.763G>C | |
17 | g.7581494G= | CA2245921033 | CD68 | c.1048G= (p.Ala350=) c.967G= (p.Ala323=) c.763G= | |
17 | g.7581494G>T | CA397832846 | CD68 | c.1048G>T (p.Ala350Ser) c.967G>T (p.Ala323Ser) c.763G>T | |
17 | g.7581495C>A | CA8352703 | CD68 | c.1049C>A (p.Ala350Asp) c.968C>A (p.Ala323Asp) c.764C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.7581495C= | CA2245921036 | CD68 | c.1049C= (p.Ala350=) c.968C= (p.Ala323=) c.764C= | |
17 | g.7581495C>G | CA397832888 | CD68 | c.1049C>G (p.Ala350Gly) c.968C>G (p.Ala323Gly) c.764C>G | |
17 | g.7581495C>T | CA397832893 | CD68 | c.1049C>T (p.Ala350Val) c.968C>T (p.Ala323Val) c.764C>T | |
17 | g.7581496C>A | CA497712871 | CD68 | c.1050C>A (p.Ala350=) c.969C>A (p.Ala323=) c.765C>A | |
17 | g.7581496C= | CA2245921039 | CD68 | c.1050C= (p.Ala350=) c.969C= (p.Ala323=) c.765C= | |
17 | g.7581496C>G | CA497712872 | CD68 | c.1050C>G (p.Ala350=) c.969C>G (p.Ala323=) c.765C>G | |
17 | g.7581496C>T | CA287466580 | CD68 | c.1050C>T (p.Ala350=) c.969C>T (p.Ala323=) c.765C>T | dbSNP gnomAD v4 |
17 | g.7581497T>A | CA397832904 | CD68 | c.1051T>A (p.Tyr351Asn) c.970T>A (p.Tyr324Asn) c.766T>A | |
17 | g.7581497T>C | CA397832901 | CD68 | c.1051T>C (p.Tyr351His) c.970T>C (p.Tyr324His) c.766T>C | |
17 | g.7581497T>G | CA397832899 | CD68 | c.1051T>G (p.Tyr351Asp) c.970T>G (p.Tyr324Asp) c.766T>G | |
17 | g.7581498A>C | CA397832912 | CD68 | c.1052A>C (p.Tyr351Ser) c.971A>C (p.Tyr324Ser) c.767A>C | |
17 | g.7581498A>G | CA397832917 | CD68 | c.1052A>G (p.Tyr351Cys) c.971A>G (p.Tyr324Cys) c.767A>G | |
17 | g.7581498A>T | CA397832919 | CD68 | c.1052A>T (p.Tyr351Phe) c.971A>T (p.Tyr324Phe) c.767A>T | |
17 | g.7581498dup | CA2635877631 | CD68 | c.1052dup (p.Tyr351Ter) c.971dup (p.Tyr324Ter) c.767dup | gnomAD v4 |
17 | g.7581499C>A | CA397832929 | CD68 | c.1053C>A (p.Tyr351Ter) c.972C>A (p.Tyr324Ter) c.768C>A | |
17 | g.7581499C= | CA2245921043 | CD68 | c.1053C= (p.Tyr351=) c.972C= (p.Tyr324=) c.768C= | |
17 | g.7581499C>G | CA397832952 | CD68 | c.1053C>G (p.Tyr351Ter) c.972C>G (p.Tyr324Ter) c.768C>G | gnomAD v4 |
17 | g.7581499C>T | CA497712876 | CD68 | c.1053C>T (p.Tyr351=) c.972C>T (p.Tyr324=) c.768C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.7581500C>A | CA397832953 | CD68 | c.1054C>A (p.Gln352Lys) c.973C>A (p.Gln325Lys) c.769C>A | |
17 | g.7581500C= | CA2245921045 | CD68 | c.1054C= (p.Gln352=) c.973C= (p.Gln325=) c.769C= | |
17 | g.7581500C>G | CA397832954 | CD68 | c.1054C>G (p.Gln352Glu) c.973C>G (p.Gln325Glu) c.769C>G | |
17 | g.7581500C>T | CA397832955 | CD68 | c.1054C>T (p.Gln352Ter) c.973C>T (p.Gln325Ter) c.769C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7581501_7581502insAACACACCCAACACA | CA2808377106 | CD68 | c.1055_1056insAACACACCCAACACA (p.Gln352_Ala353insThrHisProThrGln) c.974_975insAACACACCCAACACA (p.Gln325_Ala326insThrHisProThrGln) c.770_771insAACACACCCAACACA | |
17 | g.7581501A>C | CA397832956 | CD68 | c.1055A>C (p.Gln352Pro) c.974A>C (p.Gln325Pro) c.770A>C | |
17 | g.7581501A>G | CA397832958 | CD68 | c.1055A>G (p.Gln352Arg) c.974A>G (p.Gln325Arg) c.770A>G | gnomAD v4 |
17 | g.7581501A>T | CA397832966 | CD68 | c.1055A>T (p.Gln352Leu) c.974A>T (p.Gln325Leu) c.770A>T | |
17 | g.7581502G>A | CA497712877 | CD68 | c.1056G>A (p.Gln352=) c.975G>A (p.Gln325=) c.771G>A | gnomAD v4 |
17 | g.7581502G>C | CA397832967 | CD68 | c.1056G>C (p.Gln352His) c.975G>C (p.Gln325His) c.771G>C | |
17 | g.7581502G= | CA2245921047 | CD68 | c.1056G= (p.Gln352=) c.975G= (p.Gln325=) c.771G= | |
17 | g.7581502G>T | CA397832968 | CD68 | c.1056G>T (p.Gln352His) c.975G>T (p.Gln325His) c.771G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.7581503G>A | CA397832976 | CD68 | c.1057G>A (p.Ala353Thr) c.976G>A (p.Ala326Thr) c.772G>A | |
17 | g.7581503G>C | CA397832971 | CD68 | c.1057G>C (p.Ala353Pro) c.976G>C (p.Ala326Pro) c.772G>C | |
17 | g.7581503G>T | CA397832969 | CD68 | c.1057G>T (p.Ala353Ser) c.976G>T (p.Ala326Ser) c.772G>T | |
17 | g.7581504C>A | CA397832980 | CD68 | c.1058C>A (p.Ala353Asp) c.977C>A (p.Ala326Asp) c.773C>A | |
17 | g.7581504C= | CA2245921050 | CD68 | c.1058C= (p.Ala353=) c.977C= (p.Ala326=) c.773C= | |
17 | g.7581504C>G | CA397832985 | CD68 | c.1058C>G (p.Ala353Gly) c.977C>G (p.Ala326Gly) c.773C>G | gnomAD v4 |
17 | g.7581504C>T | CA397832992 | CD68 | c.1058C>T (p.Ala353Val) c.977C>T (p.Ala326Val) c.773C>T | dbSNP |
17 | g.7581505C>A | CA497712879 | CD68 | c.1059C>A (p.Ala353=) c.978C>A (p.Ala326=) c.774C>A | |
17 | g.7581505C= | CA2245921053 | CD68 | c.1059C= (p.Ala353=) c.978C= (p.Ala326=) c.774C= | |
17 | g.7581505C>G | CA497712880 | CD68 | c.1059C>G (p.Ala353=) c.978C>G (p.Ala326=) c.774C>G | |
17 | g.7581505C>T | CA497712882 | CD68 | c.1059C>T (p.Ala353=) c.978C>T (p.Ala326=) c.774C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.7581506C>A | CA397832996 | CD68 | c.1060C>A (p.Leu354Ile) c.979C>A (p.Leu327Ile) c.775C>A | |
17 | g.7581506C>G | CA397832999 | CD68 | c.1060C>G (p.Leu354Val) c.979C>G (p.Leu327Val) c.775C>G | |
17 | g.7581506C>T | CA397833000 | CD68 | c.1060C>T (p.Leu354Phe) c.979C>T (p.Leu327Phe) c.775C>T | |
17 | g.7581507T>A | CA397833001 | CD68 | c.1061T>A (p.Leu354His) c.980T>A (p.Leu327His) c.776T>A | dbSNP |