Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.27924420A= | CA2080721268 | PDX1 | c.571A= (p.Lys191=) | |
13 | g.27924420A>C | CA214073 | PDX1 | c.571A>C (p.Lys191Gln) | ClinVar dbSNP |
13 | g.27924420A>G | CA387645812 | PDX1 | c.571A>G (p.Lys191Glu) | |
13 | g.27924420A>T | CA387645814 | PDX1 | c.571A>T (p.Lys191Ter) | |
13 | g.27924421A>C | CA387645818 | PDX1 | c.572A>C (p.Lys191Thr) | |
13 | g.27924421A>G | CA387645820 | PDX1 | c.572A>G (p.Lys191Arg) | |
13 | g.27924421A>T | CA387645824 | PDX1 | c.572A>T (p.Lys191Met) | |
13 | g.27924422G>A | CA483175826 | PDX1 | c.573G>A (p.Lys191=) | |
13 | g.27924422G>C | CA387645832 | PDX1 | c.573G>C (p.Lys191Asn) | |
13 | g.27924422G>T | CA387645829 | PDX1 | c.573G>T (p.Lys191Asn) | |
13 | g.27924423A>C | CA387645836 | PDX1 | c.574A>C (p.Ile192Leu) | |
13 | g.27924423A>G | CA387645839 | PDX1 | c.574A>G (p.Ile192Val) | |
13 | g.27924423A>T | CA387645841 | PDX1 | c.574A>T (p.Ile192Phe) | |
13 | g.27924424T>A | CA387645847 | PDX1 | c.575T>A (p.Ile192Asn) | |
13 | g.27924424T>C | CA387645848 | PDX1 | c.575T>C (p.Ile192Thr) | |
13 | g.27924424T>G | CA387645851 | PDX1 | c.575T>G (p.Ile192Ser) | |
13 | g.27924425C>A | CA483175830 | PDX1 | c.576C>A (p.Ile192=) | |
13 | g.27924425C>G | CA387645854 | PDX1 | c.576C>G (p.Ile192Met) | |
13 | g.27924425C>T | CA483175831 | PDX1 | c.576C>T (p.Ile192=) | |
13 | g.27924426T>A | CA387645856 | PDX1 | c.577T>A (p.Trp193Arg) | |
13 | g.27924426T>C | CA387645858 | PDX1 | c.577T>C (p.Trp193Arg) | |
13 | g.27924426T>G | CA387645860 | PDX1 | c.577T>G (p.Trp193Gly) | |
13 | g.27924427G>A | CA387645863 | PDX1 | c.578G>A (p.Trp193Ter) | |
13 | g.27924427G>C | CA387645865 | PDX1 | c.578G>C (p.Trp193Ser) | |
13 | g.27924427G>T | CA387645867 | PDX1 | c.578G>T (p.Trp193Leu) | |
13 | g.27924428G>A | CA387645872 | PDX1 | c.579G>A (p.Trp193Ter) | |
13 | g.27924428G>C | CA387645873 | PDX1 | c.579G>C (p.Trp193Cys) | gnomAD v4 |
13 | g.27924428G>T | CA387645870 | PDX1 | c.579G>T (p.Trp193Cys) | gnomAD v4 |
13 | g.27924429T>A | CA387645876 | PDX1 | c.580T>A (p.Phe194Ile) | |
13 | g.27924429T>C | CA387645880 | PDX1 | c.580T>C (p.Phe194Leu) | |
13 | g.27924429T>G | CA387645878 | PDX1 | c.580T>G (p.Phe194Val) | |
13 | g.27924430T>A | CA387645883 | PDX1 | c.581T>A (p.Phe194Tyr) | |
13 | g.27924430T>C | CA387645888 | PDX1 | c.581T>C (p.Phe194Ser) | |
13 | g.27924430T>G | CA387645884 | PDX1 | c.581T>G (p.Phe194Cys) | |
13 | g.27924431C>A | CA387645890 | PDX1 | c.582C>A (p.Phe194Leu) | |
13 | g.27924431C>G | CA387645892 | PDX1 | c.582C>G (p.Phe194Leu) | |
13 | g.27924431C>T | CA483175847 | PDX1 | c.582C>T (p.Phe194=) | |
13 | g.27924432C>A | CA387645894 | PDX1 | c.583C>A (p.Gln195Lys) | |
13 | g.27924432C>G | CA387645895 | PDX1 | c.583C>G (p.Gln195Glu) | |
13 | g.27924432C>T | CA387645902 | PDX1 | c.583C>T (p.Gln195Ter) | |
13 | g.27924433A>C | CA387645905 | PDX1 | c.584A>C (p.Gln195Pro) | |
13 | g.27924433A>G | CA387645907 | PDX1 | c.584A>G (p.Gln195Arg) | |
13 | g.27924433A>T | CA387645908 | PDX1 | c.584A>T (p.Gln195Leu) | |
13 | g.27924434A>C | CA387645909 | PDX1 | c.585A>C (p.Gln195His) | |
13 | g.27924434A>G | CA483175852 | PDX1 | c.585A>G (p.Gln195=) | |
13 | g.27924434A>T | CA387645911 | PDX1 | c.585A>T (p.Gln195His) | |
13 | g.27924435A>C | CA387645914 | PDX1 | c.586A>C (p.Asn196His) | |
13 | g.27924435A>G | CA387645917 | PDX1 | c.586A>G (p.Asn196Asp) | |
13 | g.27924435A>T | CA387645918 | PDX1 | c.586A>T (p.Asn196Tyr) | |
13 | g.27924436A= | CA2080721269 | PDX1 | c.587A= (p.Asn196=) |