| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884778_13884780del | CA2641150774 | MC2R | c.740_742del (p.Ser247del) | gnomAD v4 |
| 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=) | |
| 18 | g.13884790T>C | CA503248088 | MC2R | c.729A>G (p.Thr243=) | dbSNP |
| 18 | g.13884790T>G | CA503248087 | MC2R | c.729A>C (p.Thr243=) | |
| 18 | g.13884790T= | CA2285919269 | MC2R | c.729A= (p.Thr243=) | |
| 18 | g.13884791G>A | CA401994196 | MC2R | c.728C>T (p.Thr243Ile) | dbSNP gnomAD v2 |
| 18 | g.13884791G>C | CA401994198 | MC2R | c.728C>G (p.Thr243Arg) | |
| 18 | g.13884791G= | CA2285919270 | MC2R | c.728C= (p.Thr243=) | |
| 18 | g.13884791G>T | CA296828625 | MC2R | c.728C>A (p.Thr243Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884792T>A | CA401994201 | MC2R | c.727A>T (p.Thr243Ser) | |
| 18 | g.13884792T>C | CA401994205 | MC2R | c.727A>G (p.Thr243Ala) | |
| 18 | g.13884792T>G | CA401994203 | MC2R | c.727A>C (p.Thr243Pro) | |
| 18 | g.13884795_13884797del | CA2641150776 | MC2R | c.725_727del (p.Met242del) | gnomAD v4 |
| 18 | g.13884793C>A | CA401994207 | MC2R | c.726G>T (p.Met242Ile) | |
| 18 | g.13884793C>G | CA401994211 | MC2R | c.726G>C (p.Met242Ile) | gnomAD v4 |
| 18 | g.13884793C>T | CA401994209 | MC2R | c.726G>A (p.Met242Ile) | COSMIC |
| 18 | g.13884794A>C | CA401994212 | MC2R | c.725T>G (p.Met242Arg) | |
| 18 | g.13884794A>G | CA401994214 | MC2R | c.725T>C (p.Met242Thr) | gnomAD v4 |
| 18 | g.13884794A>T | CA401994216 | MC2R | c.725T>A (p.Met242Lys) | |
| 18 | g.13884795T>A | CA401994218 | MC2R | c.724A>T (p.Met242Leu) | gnomAD v4 |