Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.56249280T>A | CA128645 | MC3R | c.437T>A (p.Ile146Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.56249280T>C | CA409694868 | MC3R | c.437T>C (p.Ile146Thr) | |
20 | g.56249280T>G | CA409694870 | MC3R | c.437T>G (p.Ile146Ser) | |
20 | g.56249280T= | CA2371280969 | MC3R | c.437T= (p.Ile146=) | |
20 | g.56249281C>A | CA511340860 | MC3R | c.438C>A (p.Ile146=) | |
20 | g.56249281C>G | CA409694871 | MC3R | c.438C>G (p.Ile146Met) | |
20 | g.56249281C>T | CA511340859 | MC3R | c.438C>T (p.Ile146=) | |
20 | g.56249282T>A | CA409694877 | MC3R | c.439T>A (p.Phe147Ile) | |
20 | g.56249282T>C | CA409694875 | MC3R | c.439T>C (p.Phe147Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.56249282T>G | CA409694873 | MC3R | c.439T>G (p.Phe147Val) | |
20 | g.56249282T= | CA2371280970 | MC3R | c.439T= (p.Phe147=) | |
20 | g.56249285dup | CA2653404162 | MC3R | c.442dup (p.Tyr148LeufsTer?) | gnomAD v4 |
20 | g.56249285del | CA2594859827 | MC3R | c.442del (p.Tyr148ThrfsTer9) | gnomAD v3 gnomAD v4 |
20 | g.56249283T>A | CA409694879 | MC3R | c.440T>A (p.Phe147Tyr) | |
20 | g.56249283T>C | CA409694882 | MC3R | c.440T>C (p.Phe147Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.56249283T>G | CA409694880 | MC3R | c.440T>G (p.Phe147Cys) | |
20 | g.56249283T= | CA2371280971 | MC3R | c.440T= (p.Phe147=) | |
20 | g.56249284T>A | CA409694884 | MC3R | c.441T>A (p.Phe147Leu) | |
20 | g.56249284T>C | CA316729594 | MC3R | c.441T>C (p.Phe147=) | dbSNP gnomAD v4 |
20 | g.56249284T>G | CA409694886 | MC3R | c.441T>G (p.Phe147Leu) | |
20 | g.56249284T= | CA2371280972 | MC3R | c.441T= (p.Phe147=) | |
20 | g.56249285T>A | CA409694889 | MC3R | c.442T>A (p.Tyr148Asn) | |
20 | g.56249285T>C | CA9917007 | MC3R | c.442T>C (p.Tyr148His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.56249285T>G | CA409694891 | MC3R | c.442T>G (p.Tyr148Asp) | |
20 | g.56249285T= | CA2371280973 | MC3R | c.442T= (p.Tyr148=) | |
20 | g.56249286A>C | CA409694893 | MC3R | c.443A>C (p.Tyr148Ser) | |
20 | g.56249286A>G | CA409694895 | MC3R | c.443A>G (p.Tyr148Cys) | |
20 | g.56249286A>T | CA409694897 | MC3R | c.443A>T (p.Tyr148Phe) | |
20 | g.56249287C>A | CA9917009 | MC3R | c.444C>A (p.Tyr148Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.56249287C= | CA2371280974 | MC3R | c.444C= (p.Tyr148=) | |
20 | g.56249287C>G | CA409694900 | MC3R | c.444C>G (p.Tyr148Ter) | |
20 | g.56249287C>T | CA9917008 | MC3R | c.444C>T (p.Tyr148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.56249288G>A | CA9917010 | MC3R | c.445G>A (p.Ala149Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.56249288G>C | CA409694903 | MC3R | c.445G>C (p.Ala149Pro) | |
20 | g.56249288G= | CA2371280976 | MC3R | c.445G= (p.Ala149=) | |
20 | g.56249288G>T | CA409694905 | MC3R | c.445G>T (p.Ala149Ser) | |
20 | g.56249288_56249293delinsGCGCTC | CA2371280975 | MC3R | c.445_450delinsGCGCTC (p.Ala149=) | |
20 | g.56249289C>A | CA409694908 | MC3R | c.446C>A (p.Ala149Glu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.56249289C= | CA2371280977 | MC3R | c.446C= (p.Ala149=) | |
20 | g.56249289C>G | CA409694909 | MC3R | c.446C>G (p.Ala149Gly) | |
20 | g.56249289C>T | CA9917012 | MC3R | c.446C>T (p.Ala149Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.56249293_56249297del | CA9917011 | MC3R | c.450_454del (p.Arg151ProfsTer?) | dbSNP ExAC gnomAD v2 |
20 | g.56249290G>A | CA9917013 | MC3R | c.447G>A (p.Ala149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.56249290G>C | CA511340867 | MC3R | c.447G>C (p.Ala149=) | |
20 | g.56249290G= | CA2371280978 | MC3R | c.447G= (p.Ala149=) | |
20 | g.56249290G>T | CA511340868 | MC3R | c.447G>T (p.Ala149=) | dbSNP COSMIC |
20 | g.56249291C>A | CA409694913 | MC3R | c.448C>A (p.Leu150Ile) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.56249291C= | CA2371280979 | MC3R | c.448C= (p.Leu150=) | |
20 | g.56249291C>G | CA409694915 | MC3R | c.448C>G (p.Leu150Val) | |
20 | g.56249291C>T | CA409694917 | MC3R | c.448C>T (p.Leu150Phe) |