Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.119339564_119339577delinsCAAACTGCAGGCTG | CA2003913587 | C1QTNF5,MFRP | c.486_499delinsCAGCCTGCAGTTTG (p.Ala162=) c.*1382_*1395delinsCAGCCTGCAGTTTG (n.*1382_*1395delinsCAGCCTGCAGTTTG) n.376_389delinsCAGCCTGCAGTTTG | |
11 | g.119339565_119339577del | CA6319933 | C1QTNF5,MFRP | c.486_498del (p.Ser163IlefsTer3) c.*1382_*1394del (n.*1382_*1394del) n.376_388del | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119339574G>A | CA477377409 | C1QTNF5,MFRP | c.489C>T (p.Ser163=) c.*1385C>T (n.*1385C>T) n.379C>T | |
11 | g.119339574G>C | CA017306 | C1QTNF5,MFRP | c.489C>G (p.Ser163Arg) c.*1385C>G (n.*1385C>G) n.379C>G | ClinVar dbSNP gnomAD v4 |
11 | g.119339574G= | CA2003913613 | C1QTNF5,MFRP | c.489C= (p.Ser163=) c.*1385C= (n.*1385C=) n.379C= | |
11 | g.119339574G>T | CA382968878 | C1QTNF5,MFRP | c.489C>A (p.Ser163Arg) c.*1385C>A (n.*1385C>A) n.379C>A | ClinVar dbSNP gnomAD v4 |
11 | g.119339575C>A | CA382968881 | C1QTNF5,MFRP | c.488G>T (p.Ser163Ile) c.*1384G>T (n.*1384G>T) n.378G>T | |
11 | g.119339575C= | CA2003913621 | C1QTNF5,MFRP | c.488G= (p.Ser163=) c.*1384G= (n.*1384G=) n.378G= | |
11 | g.119339575C>G | CA382968883 | C1QTNF5,MFRP | c.488G>C (p.Ser163Thr) c.*1384G>C (n.*1384G>C) n.378G>C | |
11 | g.119339575C>T | CA382968884 | C1QTNF5,MFRP | c.488G>A (p.Ser163Asn) c.*1384G>A (n.*1384G>A) n.378G>A | |
11 | g.119339575_119339576insGGTGGGCGGAGCCTTGAGGGGCTTTG | CA602579120 | C1QTNF5,MFRP | c.487_488insCAAAGCCCCTCAAGGCTCCGCCCACC (p.Ser163ThrfsTer16) c.*1383_*1384insCAAAGCCCCTCAAGGCTCCGCCCACC (n.*1383_*1384insCAAAGCCCCTCAAGGCTCCGCCCACC) n.377_378insCAAAGCCCCTCAAGGCTCCGCCCACC | dbSNP gnomAD v2 |
11 | g.119339576T>A | CA382968888 | C1QTNF5,MFRP | c.487A>T (p.Ser163Cys) c.*1383A>T (n.*1383A>T) n.377A>T | |
11 | g.119339576T>C | CA382968890 | C1QTNF5,MFRP | c.487A>G (p.Ser163Gly) c.*1383A>G (n.*1383A>G) n.377A>G | |
11 | g.119339576T>G | CA382968886 | C1QTNF5,MFRP | c.487A>C (p.Ser163Arg) c.*1383A>C (n.*1383A>C) n.377A>C | |
11 | g.119339577G>A | CA477377411 | C1QTNF5,MFRP | c.486C>T (p.Ala162=) c.*1382C>T (n.*1382C>T) n.376C>T | gnomAD v4 |
11 | g.119339577G>C | CA477377412 | C1QTNF5,MFRP | c.486C>G (p.Ala162=) c.*1382C>G (n.*1382C>G) n.376C>G | |
11 | g.119339577G>T | CA477377413 | C1QTNF5,MFRP | c.486C>A (p.Ala162=) c.*1382C>A (n.*1382C>A) n.376C>A | |
11 | g.119339578G>A | CA382968895 | C1QTNF5,MFRP | c.485C>T (p.Ala162Val) c.*1381C>T (n.*1381C>T) n.375C>T | |
11 | g.119339578G>C | CA382968891 | C1QTNF5,MFRP | c.485C>G (p.Ala162Gly) c.*1381C>G (n.*1381C>G) n.375C>G | |
11 | g.119339578G>T | CA382968893 | C1QTNF5,MFRP | c.485C>A (p.Ala162Asp) c.*1381C>A (n.*1381C>A) n.375C>A | gnomAD v4 |
11 | g.119339579C>A | CA382968897 | C1QTNF5,MFRP | c.484G>T (p.Ala162Ser) c.*1380G>T (n.*1380G>T) n.374G>T | |
11 | g.119339579C= | CA2003913627 | C1QTNF5,MFRP | c.484G= (p.Ala162=) c.*1380G= (n.*1380G=) n.374G= | |
11 | g.119339579C>G | CA382968898 | C1QTNF5,MFRP | c.484G>C (p.Ala162Pro) c.*1380G>C (n.*1380G>C) n.374G>C | |
11 | g.119339579C>T | CA6319936 | C1QTNF5,MFRP | c.484G>A (p.Ala162Thr) c.*1380G>A (n.*1380G>A) n.374G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119339580C>A | CA477377415 | C1QTNF5,MFRP | c.483G>T (p.Arg161=) c.*1379G>T (n.*1379G>T) n.373G>T | |
11 | g.119339580C>G | CA477377416 | C1QTNF5,MFRP | c.483G>C (p.Arg161=) c.*1379G>C (n.*1379G>C) n.373G>C | |
11 | g.119339580C>T | CA477377417 | C1QTNF5,MFRP | c.483G>A (p.Arg161=) c.*1379G>A (n.*1379G>A) n.373G>A | |
11 | g.119339581C>A | CA382968900 | C1QTNF5,MFRP | c.482G>T (p.Arg161Leu) c.*1378G>T (n.*1378G>T) n.372G>T | |
11 | g.119339581C= | CA2003913636 | C1QTNF5,MFRP | c.482G= (p.Arg161=) c.*1378G= (n.*1378G=) n.372G= | |
11 | g.119339581C>G | CA382968902 | C1QTNF5,MFRP | c.482G>C (p.Arg161Pro) c.*1378G>C (n.*1378G>C) n.372G>C | dbSNP |
11 | g.119339581C>T | CA382968904 | C1QTNF5,MFRP | c.482G>A (p.Arg161Gln) c.*1378G>A (n.*1378G>A) n.372G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119339582G>A | CA382968905 | C1QTNF5,MFRP | c.481C>T (p.Arg161Trp) c.*1377C>T (n.*1377C>T) n.371C>T | |
11 | g.119339582G>C | CA382968906 | C1QTNF5,MFRP | c.481C>G (p.Arg161Gly) c.*1377C>G (n.*1377C>G) n.371C>G | |
11 | g.119339582G= | CA2003913637 | C1QTNF5,MFRP | c.481C= (p.Arg161=) c.*1377C= (n.*1377C=) n.371C= | |
11 | g.119339582G>T | CA6319937 | C1QTNF5,MFRP | c.481C>A (p.Arg161=) c.*1377C>A (n.*1377C>A) n.371C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.119339583G>A | CA477377422 | C1QTNF5,MFRP | c.480C>T (p.Tyr160=) c.*1376C>T (n.*1376C>T) n.370C>T | |
11 | g.119339583G>C | CA382968909 | C1QTNF5,MFRP | c.480C>G (p.Tyr160Ter) c.*1376C>G (n.*1376C>G) n.370C>G | |
11 | g.119339583G>T | CA382968910 | C1QTNF5,MFRP | c.480C>A (p.Tyr160Ter) c.*1376C>A (n.*1376C>A) n.370C>A | |
11 | g.119339584T>A | CA382968915 | C1QTNF5,MFRP | c.479A>T (p.Tyr160Phe) c.*1375A>T (n.*1375A>T) n.369A>T | |
11 | g.119339584T>C | CA382968912 | C1QTNF5,MFRP | c.479A>G (p.Tyr160Cys) c.*1375A>G (n.*1375A>G) n.369A>G | gnomAD v4 |
11 | g.119339584T>G | CA382968913 | C1QTNF5,MFRP | c.479A>C (p.Tyr160Ser) c.*1375A>C (n.*1375A>C) n.369A>C | |
11 | g.119339585A>C | CA382968916 | C1QTNF5,MFRP | c.478T>G (p.Tyr160Asp) c.*1374T>G (n.*1374T>G) n.368T>G | |
11 | g.119339585A>G | CA382968918 | C1QTNF5,MFRP | c.478T>C (p.Tyr160His) c.*1374T>C (n.*1374T>C) n.368T>C | COSMIC |
11 | g.119339585A>T | CA382968919 | C1QTNF5,MFRP | c.478T>A (p.Tyr160Asn) c.*1374T>A (n.*1374T>A) n.368T>A | |
11 | g.119339586G>A | CA477377429 | C1QTNF5,MFRP | c.477C>T (p.Val159=) c.*1373C>T (n.*1373C>T) n.367C>T | |
11 | g.119339586G>C | CA477377428 | C1QTNF5,MFRP | c.477C>G (p.Val159=) c.*1373C>G (n.*1373C>G) n.367C>G | |
11 | g.119339586G>T | CA477377427 | C1QTNF5,MFRP | c.477C>A (p.Val159=) c.*1373C>A (n.*1373C>A) n.367C>A | |
11 | g.119339587A= | CA2003913640 | C1QTNF5,MFRP | c.476T= (p.Val159=) c.*1372T= (n.*1372T=) n.366T= | |
11 | g.119339587A>C | CA382968920 | C1QTNF5,MFRP | c.476T>G (p.Val159Gly) c.*1372T>G (n.*1372T>G) n.366T>G | |
11 | g.119339587A>G | CA382968922 | C1QTNF5,MFRP | c.476T>C (p.Val159Ala) c.*1372T>C (n.*1372T>C) n.366T>C |