Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
18 | g.13884783G>C | CA401994159 | MC2R | c.736C>G (p.Pro246Ala) | |
18 | g.13884783G>T | CA401994161 | MC2R | c.736C>A (p.Pro246Thr) | |
18 | g.13884784G>A | CA503248077 | MC2R | c.735C>T (p.Cys245=) | |
18 | g.13884784G>C | CA401994165 | MC2R | c.735C>G (p.Cys245Trp) | |
18 | g.13884784G>T | CA401994166 | MC2R | c.735C>A (p.Cys245Ter) | COSMIC |
18 | g.13884785C>A | CA401994169 | MC2R | c.734G>T (p.Cys245Phe) | |
18 | g.13884785C>G | CA401994171 | MC2R | c.734G>C (p.Cys245Ser) | |
18 | g.13884785C>T | CA401994173 | MC2R | c.734G>A (p.Cys245Tyr) | gnomAD v4 |
18 | g.13884786A>C | CA401994175 | MC2R | c.733T>G (p.Cys245Gly) | |
18 | g.13884786A>G | CA401994178 | MC2R | c.733T>C (p.Cys245Arg) | |
18 | g.13884786A>T | CA401994176 | MC2R | c.733T>A (p.Cys245Ser) | |
18 | g.13884787G>A | CA503248084 | MC2R | c.732C>T (p.Phe244=) | |
18 | g.13884787G>C | CA401994180 | MC2R | c.732C>G (p.Phe244Leu) | |
18 | g.13884787G>T | CA401994182 | MC2R | c.732C>A (p.Phe244Leu) | COSMIC |
18 | g.13884788A>C | CA401994185 | MC2R | c.731T>G (p.Phe244Cys) | |
18 | g.13884788A>G | CA401994186 | MC2R | c.731T>C (p.Phe244Ser) | |
18 | g.13884788A>T | CA401994188 | MC2R | c.731T>A (p.Phe244Tyr) | |
18 | g.13884789A>C | CA401994190 | MC2R | c.730T>G (p.Phe244Val) | |
18 | g.13884789A>G | CA401994191 | MC2R | c.730T>C (p.Phe244Leu) | |
18 | g.13884789A>T | CA401994193 | MC2R | c.730T>A (p.Phe244Ile) | |
18 | g.13884790T>A | CA503248089 | MC2R | c.729A>T (p.Thr243=) |