Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13884756_13884762del | CA628496355 | MC2R | c.759_765del (p.Tyr254LeufsTer5) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884761C>A | CA401994058 | MC2R | c.758G>T (p.Cys253Phe) | |
18 | g.13884761C>G | CA401994060 | MC2R | c.758G>C (p.Cys253Ser) | |
18 | g.13884761C>T | CA401994061 | MC2R | c.758G>A (p.Cys253Tyr) | |
18 | g.13884762A>C | CA401994064 | MC2R | c.757T>G (p.Cys253Gly) | |
18 | g.13884762A>G | CA401994066 | MC2R | c.757T>C (p.Cys253Arg) | |
18 | g.13884762A>T | CA401994067 | MC2R | c.757T>A (p.Cys253Ser) | |
18 | g.13884763G>A | CA503248020 | MC2R | c.756C>T (p.Ala252=) | |
18 | g.13884763G>C | CA503248022 | MC2R | c.756C>G (p.Ala252=) | |
18 | g.13884763G>T | CA503248023 | MC2R | c.756C>A (p.Ala252=) | |
18 | g.13884764G>A | CA401994074 | MC2R | c.755C>T (p.Ala252Val) | gnomAD v4 |
18 | g.13884764G>C | CA401994071 | MC2R | c.755C>G (p.Ala252Gly) | |
18 | g.13884764G>T | CA401994072 | MC2R | c.755C>A (p.Ala252Asp) | |
18 | g.13884765C>A | CA296828605 | MC2R | c.754G>T (p.Ala252Ser) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884765C= | CA2285919260 | MC2R | c.754G= (p.Ala252=) | |
18 | g.13884765C>G | CA401994079 | MC2R | c.754G>C (p.Ala252Pro) | |
18 | g.13884765C>T | CA8902411 | MC2R | c.754G>A (p.Ala252Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884766G>A | CA296828608 | MC2R | c.753C>T (p.Cys251=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884766G>C | CA401994083 | MC2R | c.753C>G (p.Cys251Trp) | |
18 | g.13884766G= | CA2285919261 | MC2R | c.753C= (p.Cys251=) | |
18 | g.13884766G>T | CA401994082 | MC2R | c.753C>A (p.Cys251Ter) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884767C>A | CA116122 | MC2R | c.752G>T (p.Cys251Phe) | ClinVar dbSNP |
18 | g.13884767C= | CA2285919262 | MC2R | c.752G= (p.Cys251=) | |
18 | g.13884767C>G | CA296828614 | MC2R | c.752G>C (p.Cys251Ser) | dbSNP gnomAD v4 |
18 | g.13884767C>T | CA296828617 | MC2R | c.752G>A (p.Cys251Tyr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884768A= | CA2285919263 | MC2R | c.751T= (p.Cys251=) | |
18 | g.13884768A>C | CA401994087 | MC2R | c.751T>G (p.Cys251Gly) | gnomAD v4 |
18 | g.13884768A>G | CA401994088 | MC2R | c.751T>C (p.Cys251Arg) | dbSNP |
18 | g.13884768A>T | CA401994089 | MC2R | c.751T>A (p.Cys251Ser) | |
18 | g.13884769G>A | CA503248034 | MC2R | c.750C>T (p.Tyr250=) | |
18 | g.13884769G>C | CA401994093 | MC2R | c.750C>G (p.Tyr250Ter) | |
18 | g.13884769G>T | CA401994092 | MC2R | c.750C>A (p.Tyr250Ter) | |
18 | g.13884770T>A | CA401994096 | MC2R | c.749A>T (p.Tyr250Phe) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884770T>C | CA401994098 | MC2R | c.749A>G (p.Tyr250Cys) | |
18 | g.13884770T>G | CA401994100 | MC2R | c.749A>C (p.Tyr250Ser) | |
18 | g.13884770T= | CA2285919264 | MC2R | c.749A= (p.Tyr250=) | |
18 | g.13884771A= | CA2285919265 | MC2R | c.748T= (p.Tyr250=) | |
18 | g.13884771A>C | CA401994103 | MC2R | c.748T>G (p.Tyr250Asp) | |
18 | g.13884771A>G | CA401994104 | MC2R | c.748T>C (p.Tyr250His) | dbSNP |
18 | g.13884771A>T | CA401994106 | MC2R | c.748T>A (p.Tyr250Asn) | |
18 | g.13884772G>A | CA503248041 | MC2R | c.747C>T (p.Pro249=) | |
18 | g.13884772G>C | CA503248040 | MC2R | c.747C>G (p.Pro249=) | |
18 | g.13884772G>T | CA503248039 | MC2R | c.747C>A (p.Pro249=) | |
18 | g.13884773G>A | CA401994113 | MC2R | c.746C>T (p.Pro249Leu) | |
18 | g.13884773G>C | CA401994108 | MC2R | c.746C>G (p.Pro249Arg) | |
18 | g.13884773G>T | CA401994110 | MC2R | c.746C>A (p.Pro249His) | |
18 | g.13884774G>A | CA401994115 | MC2R | c.745C>T (p.Pro249Ser) | gnomAD v4 |
18 | g.13884774G>C | CA8902412 | MC2R | c.745C>G (p.Pro249Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884774G= | CA2285919266 | MC2R | c.745C= (p.Pro249=) | |
18 | g.13884774G>T | CA401994118 | MC2R | c.745C>A (p.Pro249Thr) |