| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13885037G>A | CA401995168 | MC2R | c.482C>T (p.Thr161Ile) | |
| 18 | g.13885037G>C | CA8902462 | MC2R | c.482C>G (p.Thr161Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885037G= | CA2285919391 | MC2R | c.482C= (p.Thr161=) | |
| 18 | g.13885037G>T | CA401995169 | MC2R | c.482C>A (p.Thr161Asn) | dbSNP |
| 18 | g.13885038T>A | CA401995172 | MC2R | c.481A>T (p.Thr161Ser) | |
| 18 | g.13885038T>C | CA401995171 | MC2R | c.481A>G (p.Thr161Ala) | |
| 18 | g.13885038T>G | CA401995170 | MC2R | c.481A>C (p.Thr161Pro) | |
| 18 | g.13885038_13885041del | CA2641148016 | MC2R | c.478_481del (p.Gly160LeufsTer6) | gnomAD v4 |
| 18 | g.13885039C>A | CA503248192 | MC2R | c.480G>T (p.Gly160=) | gnomAD v4 |
| 18 | g.13885039C= | CA2285919392 | MC2R | c.480G= (p.Gly160=) | |
| 18 | g.13885039C>G | CA8902463 | MC2R | c.480G>C (p.Gly160=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885039C>T | CA296828768 | MC2R | c.480G>A (p.Gly160=) | dbSNP |
| 18 | g.13885042dup | CA2741569048 | MC2R | c.480dup (p.Thr161AspfsTer?) | |
| 18 | g.13885040C>A | CA401995173 | MC2R | c.479G>T (p.Gly160Val) | gnomAD v4 |
| 18 | g.13885040C>G | CA401995174 | MC2R | c.479G>C (p.Gly160Ala) | |
| 18 | g.13885040C>T | CA401995175 | MC2R | c.479G>A (p.Gly160Glu) | COSMIC |
| 18 | g.13885041C>A | CA401995176 | MC2R | c.478G>T (p.Gly160Trp) | |
| 18 | g.13885041C= | CA2285919393 | MC2R | c.478G= (p.Gly160=) | |
| 18 | g.13885041C>G | CA401995177 | MC2R | c.478G>C (p.Gly160Arg) | |
| 18 | g.13885041C>T | CA8902464 | MC2R | c.478G>A (p.Gly160Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885042C>A | CA8902465 | MC2R | c.477G>T (p.Thr159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885042C= | CA2285919394 | MC2R | c.477G= (p.Thr159=) | |
| 18 | g.13885042C>G | CA503248200 | MC2R | c.477G>C (p.Thr159=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885042C>T | CA503248202 | MC2R | c.477G>A (p.Thr159=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885043G>A | CA8902467 | MC2R | c.476C>T (p.Thr159Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885043G>C | CA8902466 | MC2R | c.476C>G (p.Thr159Arg) | dbSNP ExAC gnomAD v4 |
| 18 | g.13885043G= | CA2285919395 | MC2R | c.476C= (p.Thr159=) | |
| 18 | g.13885043G>T | CA8902468 | MC2R | c.476C>A (p.Thr159Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885044T>A | CA401995178 | MC2R | c.475A>T (p.Thr159Ser) | |
| 18 | g.13885044T>C | CA401995179 | MC2R | c.475A>G (p.Thr159Ala) | gnomAD v4 |
| 18 | g.13885044T>G | CA401995180 | MC2R | c.475A>C (p.Thr159Pro) | |
| 18 | g.13885044dup | CA2641148017 | MC2R | c.475dup (p.Thr159AsnfsTer?) | gnomAD v4 |
| 18 | g.13885045G>A | CA503248205 | MC2R | c.474C>T (p.Cys158=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885045G>C | CA401995182 | MC2R | c.474C>G (p.Cys158Trp) | |
| 18 | g.13885045G= | CA2285919396 | MC2R | c.474C= (p.Cys158=) | |
| 18 | g.13885045G>T | CA401995181 | MC2R | c.474C>A (p.Cys158Ter) | |
| 18 | g.13885046C>A | CA401995183 | MC2R | c.473G>T (p.Cys158Phe) | |
| 18 | g.13885046C= | CA2285919397 | MC2R | c.473G= (p.Cys158=) | |
| 18 | g.13885046C>G | CA401995184 | MC2R | c.473G>C (p.Cys158Ser) | |
| 18 | g.13885046C>T | CA401995185 | MC2R | c.473G>A (p.Cys158Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885047A>C | CA401995186 | MC2R | c.472T>G (p.Cys158Gly) | |
| 18 | g.13885047A>G | CA401995187 | MC2R | c.472T>C (p.Cys158Arg) | |
| 18 | g.13885047A>T | CA401995188 | MC2R | c.472T>A (p.Cys158Ser) | |
| 18 | g.13885048G>A | CA503248210 | MC2R | c.471C>T (p.Phe157=) | |
| 18 | g.13885048G>C | CA401995190 | MC2R | c.471C>G (p.Phe157Leu) | |
| 18 | g.13885048G>T | CA401995189 | MC2R | c.471C>A (p.Phe157Leu) | gnomAD v4 |
| 18 | g.13885049A>C | CA401995191 | MC2R | c.470T>G (p.Phe157Cys) | |
| 18 | g.13885049A>G | CA401995192 | MC2R | c.470T>C (p.Phe157Ser) | |
| 18 | g.13885049A>T | CA401995193 | MC2R | c.470T>A (p.Phe157Tyr) | |
| 18 | g.13885050A>C | CA401995194 | MC2R | c.469T>G (p.Phe157Val) |