Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13885062C>A | CA401995219 | MC2R | c.457G>T (p.Val153Phe) | |
18 | g.13885062C>G | CA401995220 | MC2R | c.457G>C (p.Val153Leu) | dbSNP |
18 | g.13885062C>T | CA401995221 | MC2R | c.457G>A (p.Val153Ile) | |
18 | g.13885063C>A | CA8902471 | MC2R | c.456G>T (p.Thr152=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885063C= | CA2285919404 | MC2R | c.456G= (p.Thr152=) | |
18 | g.13885063C>G | CA503248249 | MC2R | c.456G>C (p.Thr152=) | dbSNP gnomAD v4 |
18 | g.13885063C>T | CA503248251 | MC2R | c.456G>A (p.Thr152=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885063_13885065del | CA2641148019 | MC2R | c.454_456del (p.Thr152del) | gnomAD v4 |
18 | g.13885064G>A | CA8902472 | MC2R | c.455C>T (p.Thr152Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885064G>C | CA401995222 | MC2R | c.455C>G (p.Thr152Arg) | |
18 | g.13885064G= | CA2285919405 | MC2R | c.455C= (p.Thr152=) | |
18 | g.13885064G>T | CA8902473 | MC2R | c.455C>A (p.Thr152Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885065T>A | CA401995224 | MC2R | c.454A>T (p.Thr152Ser) | |
18 | g.13885065T>C | CA401995225 | MC2R | c.454A>G (p.Thr152Ala) | |
18 | g.13885065T>G | CA401995223 | MC2R | c.454A>C (p.Thr152Pro) | |
18 | g.13885066A>C | CA503248254 | MC2R | c.453T>G (p.Leu151=) | |
18 | g.13885066A>G | CA503248256 | MC2R | c.453T>C (p.Leu151=) | |
18 | g.13885066A>T | CA503248258 | MC2R | c.453T>A (p.Leu151=) | |
18 | g.13885067A>C | CA401995226 | MC2R | c.452T>G (p.Leu151Arg) | |
18 | g.13885067A>G | CA401995228 | MC2R | c.452T>C (p.Leu151Pro) | |
18 | g.13885067A>T | CA401995227 | MC2R | c.452T>A (p.Leu151His) | |
18 | g.13885068G>A | CA401995229 | MC2R | c.451C>T (p.Leu151Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13885068G>C | CA401995230 | MC2R | c.451C>G (p.Leu151Val) | |
18 | g.13885068G= | CA2285919406 | MC2R | c.451C= (p.Leu151=) | |
18 | g.13885068G>T | CA401995231 | MC2R | c.451C>A (p.Leu151Ile) | |
18 | g.13885069C>A | CA503248263 | MC2R | c.450G>T (p.Val150=) | |
18 | g.13885069C= | CA2285919407 | MC2R | c.450G= (p.Val150=) | |
18 | g.13885069C>G | CA503248266 | MC2R | c.450G>C (p.Val150=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885069C>T | CA503248267 | MC2R | c.450G>A (p.Val150=) | |
18 | g.13885070_13885074dup | CA2641148020 | MC2R | c.446_450dup (p.Leu151TrpfsTer18) | gnomAD v4 |
18 | g.13885070A>C | CA401995232 | MC2R | c.449T>G (p.Val150Gly) | |
18 | g.13885070A>G | CA401995233 | MC2R | c.449T>C (p.Val150Ala) | |
18 | g.13885070A>T | CA401995234 | MC2R | c.449T>A (p.Val150Glu) | |
18 | g.13885071C>A | CA401995235 | MC2R | c.448G>T (p.Val150Leu) | |
18 | g.13885071C>G | CA401995236 | MC2R | c.448G>C (p.Val150Leu) | |
18 | g.13885071C>T | CA401995237 | MC2R | c.448G>A (p.Val150Met) | |
18 | g.13885072C>A | CA8902474 | MC2R | c.447G>T (p.Val149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885072C= | CA2285919408 | MC2R | c.447G= (p.Val149=) | |
18 | g.13885072C>G | CA503248274 | MC2R | c.447G>C (p.Val149=) | |
18 | g.13885072C>T | CA503248276 | MC2R | c.447G>A (p.Val149=) | |
18 | g.13885073A>C | CA401995238 | MC2R | c.446T>G (p.Val149Gly) | |
18 | g.13885073A>G | CA401995239 | MC2R | c.446T>C (p.Val149Ala) | |
18 | g.13885073A>T | CA401995240 | MC2R | c.446T>A (p.Val149Glu) | |
18 | g.13885073_13885074insGATGA | CA2811045737 | MC2R | c.446_447insCATCT (p.Val150IlefsTer19) | |
18 | g.13885074C>A | CA401995241 | MC2R | c.445G>T (p.Val149Leu) | |
18 | g.13885074C= | CA2285919409 | MC2R | c.445G= (p.Val149=) | |
18 | g.13885074C>G | CA401995242 | MC2R | c.445G>C (p.Val149Leu) | gnomAD v4 |
18 | g.13885074C>T | CA8902475 | MC2R | c.445G>A (p.Val149Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885075C>A | CA503248280 | MC2R | c.444G>T (p.Val148=) | |
18 | g.13885075C>G | CA503248284 | MC2R | c.444G>C (p.Val148=) |