Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
18 | g.13884775G>A | CA503248055 | MC2R | c.744C>T (p.Asn248=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884775G>C | CA401994121 | MC2R | c.744C>G (p.Asn248Lys) | |
18 | g.13884775G= | CA2285919267 | MC2R | c.744C= (p.Asn248=) | |
18 | g.13884775G>T | CA8902413 | MC2R | c.744C>A (p.Asn248Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884776T>A | CA401994124 | MC2R | c.743A>T (p.Asn248Ile) | |
18 | g.13884776T>C | CA401994126 | MC2R | c.743A>G (p.Asn248Ser) | |
18 | g.13884776T>G | CA401994128 | MC2R | c.743A>C (p.Asn248Thr) | |
18 | g.13884777T>A | CA401994131 | MC2R | c.742A>T (p.Asn248Tyr) | |
18 | g.13884777T>C | CA401994133 | MC2R | c.742A>G (p.Asn248Asp) | dbSNP |
18 | g.13884777T>G | CA401994134 | MC2R | c.742A>C (p.Asn248His) | |
18 | g.13884777T= | CA2285919268 | MC2R | c.742A= (p.Asn248=) | |
18 | g.13884778_13884780del | CA2641150774 | MC2R | c.740_742del (p.Ser247del) | gnomAD v4 |
18 | g.13884778A>C | CA401994138 | MC2R | c.741T>G (p.Ser247Arg) | |
18 | g.13884778A>G | CA503248062 | MC2R | c.741T>C (p.Ser247=) | |
18 | g.13884778A>T | CA401994139 | MC2R | c.741T>A (p.Ser247Arg) | |
18 | g.13884779del | CA2641150775 | MC2R | c.740del (p.Ser247IlefsTer14) | gnomAD v4 |
18 | g.13884779C>A | CA401994144 | MC2R | c.740G>T (p.Ser247Ile) | |
18 | g.13884779C>G | CA401994142 | MC2R | c.740G>C (p.Ser247Thr) | |
18 | g.13884779C>T | CA401994143 | MC2R | c.740G>A (p.Ser247Asn) | |
18 | g.13884780T>A | CA401994147 | MC2R | c.739A>T (p.Ser247Cys) | gnomAD v4 |
18 | g.13884780T>C | CA401994149 | MC2R | c.739A>G (p.Ser247Gly) | |
18 | g.13884780T>G | CA401994150 | MC2R | c.739A>C (p.Ser247Arg) | |
18 | g.13884781T>A | CA503248068 | MC2R | c.738A>T (p.Pro246=) | |
18 | g.13884781T>C | CA503248069 | MC2R | c.738A>G (p.Pro246=) | |
18 | g.13884781T>G | CA503248073 | MC2R | c.738A>C (p.Pro246=) | |
18 | g.13884782G>A | CA401994153 | MC2R | c.737C>T (p.Pro246Leu) | |
18 | g.13884782G>C | CA401994155 | MC2R | c.737C>G (p.Pro246Arg) | |
18 | g.13884782G>T | CA401994157 | MC2R | c.737C>A (p.Pro246Gln) | |
18 | g.13884783G>A | CA401994163 | MC2R | c.736C>T (p.Pro246Ser) |