Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25164700G>A | CA43686512 | POMC | c.73C>T (p.Arg25Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164700G>C | CA346067841 | POMC | c.73C>G (p.Arg25Gly) | |
2 | g.25164700G= | CA1239231677 | POMC | c.73C= (p.Arg25=) | |
2 | g.25164700G>T | CA346067842 | POMC | c.73C>A (p.Arg25Ser) | |
2 | g.25164701C>A | CA425180716 | POMC | c.72G>T (p.Val24=) | |
2 | g.25164701C>G | CA425180715 | POMC | c.72G>C (p.Val24=) | |
2 | g.25164701C>T | CA425180714 | POMC | c.72G>A (p.Val24=) | |
2 | g.25164702A= | CA1239231681 | POMC | c.71T= (p.Val24=) | |
2 | g.25164702A>C | CA346067844 | POMC | c.71T>G (p.Val24Gly) | gnomAD v4 |
2 | g.25164702A>G | CA346067843 | POMC | c.71T>C (p.Val24Ala) | |
2 | g.25164702A>T | CA43686517 | POMC | c.71T>A (p.Val24Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164703C>A | CA346067845 | POMC | c.70G>T (p.Val24Leu) | gnomAD v4 |
2 | g.25164703C= | CA1239231689 | POMC | c.70G= (p.Val24=) | |
2 | g.25164703C>G | CA346067846 | POMC | c.70G>C (p.Val24Leu) | |
2 | g.25164703C>T | CA43686523 | POMC | c.70G>A (p.Val24Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25164704T>A | CA346067847 | POMC | c.69A>T (p.Glu23Asp) | |
2 | g.25164704T>C | CA425180717 | POMC | c.69A>G (p.Glu23=) | |
2 | g.25164704T>G | CA346067848 | POMC | c.69A>C (p.Glu23Asp) | |
2 | g.25164705T>A | CA346067849 | POMC | c.68A>T (p.Glu23Val) | |
2 | g.25164705T>C | CA346067850 | POMC | c.68A>G (p.Glu23Gly) | |
2 | g.25164705T>G | CA346067851 | POMC | c.68A>C (p.Glu23Ala) | |
2 | g.25164706C>A | CA346067852 | POMC | c.67G>T (p.Glu23Ter) | |
2 | g.25164706C= | CA1239231696 | POMC | c.67G= (p.Glu23=) | |
2 | g.25164706C>G | CA346067853 | POMC | c.67G>C (p.Glu23Gln) | |
2 | g.25164706C>T | CA346067854 | POMC | c.67G>A (p.Glu23Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164707C>A | CA346067856 | POMC | c.66G>T (p.Met22Ile) | COSMIC |
2 | g.25164707C>G | CA346067857 | POMC | c.66G>C (p.Met22Ile) | |
2 | g.25164707C>T | CA346067855 | POMC | c.66G>A (p.Met22Ile) | gnomAD v4 |
2 | g.25164708A= | CA1239231706 | POMC | c.65T= (p.Met22=) | |
2 | g.25164708A>C | CA346067858 | POMC | c.65T>G (p.Met22Arg) | dbSNP |
2 | g.25164708A>G | CA1555412 | POMC | c.65T>C (p.Met22Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25164708A>T | CA346067859 | POMC | c.65T>A (p.Met22Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25164709T>A | CA346067860 | POMC | c.64A>T (p.Met22Leu) | |
2 | g.25164709T>C | CA346067861 | POMC | c.64A>G (p.Met22Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25164709T>G | CA346067862 | POMC | c.64A>C (p.Met22Leu) | gnomAD v4 |
2 | g.25164709T= | CA1239231710 | POMC | c.64A= (p.Met22=) | |
2 | g.25164710G>A | CA425180719 | POMC | c.63C>T (p.Ser21=) | |
2 | g.25164710G>C | CA425180720 | POMC | c.63C>G (p.Ser21=) | |
2 | g.25164710G>T | CA425180721 | POMC | c.63C>A (p.Ser21=) | |
2 | g.25164711G>A | CA346067863 | POMC | c.62C>T (p.Ser21Phe) | |
2 | g.25164711G>C | CA346067864 | POMC | c.62C>G (p.Ser21Cys) | dbSNP |
2 | g.25164711G= | CA1239231713 | POMC | c.62C= (p.Ser21=) | |
2 | g.25164711G>T | CA346067865 | POMC | c.62C>A (p.Ser21Tyr) | |
2 | g.25164712A>C | CA346067866 | POMC | c.61T>G (p.Ser21Ala) | |
2 | g.25164712A>G | CA346067867 | POMC | c.61T>C (p.Ser21Pro) | |
2 | g.25164712A>T | CA346067868 | POMC | c.61T>A (p.Ser21Thr) | |
2 | g.25164713G>A | CA425180725 | POMC | c.60C>T (p.Ala20=) | |
2 | g.25164713G>C | CA425180726 | POMC | c.60C>G (p.Ala20=) | |
2 | g.25164713G>T | CA425180727 | POMC | c.60C>A (p.Ala20=) | |
2 | g.25164714G>A | CA346067870 | POMC | c.59C>T (p.Ala20Val) |