| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884918G>A | CA116117 | MC2R | c.601C>T (p.Arg201Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884918G>C | CA401994750 | MC2R | c.601C>G (p.Arg201Gly) | dbSNP |
| 18 | g.13884918G= | CA2285919334 | MC2R | c.601C= (p.Arg201=) | |
| 18 | g.13884918G>T | CA8902443 | MC2R | c.601C>A (p.Arg201=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884919A>C | CA503248387 | MC2R | c.600T>G (p.Ala200=) | |
| 18 | g.13884919A>G | CA503248389 | MC2R | c.600T>C (p.Ala200=) | |
| 18 | g.13884919A>T | CA503248390 | MC2R | c.600T>A (p.Ala200=) | |
| 18 | g.13884919_13884920delinsAG | CA2285919335 | MC2R | c.599_600delinsCT (p.Ala200=) | |
| 18 | g.13884920del | CA988025211 | MC2R | c.599del (p.Ala200ValfsTer16) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884920G>A | CA401994753 | MC2R | c.599C>T (p.Ala200Val) | gnomAD v4 |
| 18 | g.13884920G>C | CA401994755 | MC2R | c.599C>G (p.Ala200Gly) | |
| 18 | g.13884920G>T | CA401994756 | MC2R | c.599C>A (p.Ala200Asp) | |
| 18 | g.13884921C>A | CA401994760 | MC2R | c.598G>T (p.Ala200Ser) | dbSNP gnomAD v4 |
| 18 | g.13884921C= | CA2285919336 | MC2R | c.598G= (p.Ala200=) | |
| 18 | g.13884921C>G | CA401994759 | MC2R | c.598G>C (p.Ala200Pro) | |
| 18 | g.13884921C>T | CA401994757 | MC2R | c.598G>A (p.Ala200Thr) | |
| 18 | g.13884922C>A | CA503248400 | MC2R | c.597G>T (p.Leu199=) | |
| 18 | g.13884922C>G | CA503248396 | MC2R | c.597G>C (p.Leu199=) | |
| 18 | g.13884922C>T | CA503248399 | MC2R | c.597G>A (p.Leu199=) | gnomAD v4 |
| 18 | g.13884923A= | CA2285919337 | MC2R | c.596T= (p.Leu199=) | |
| 18 | g.13884923A>C | CA401994762 | MC2R | c.596T>G (p.Leu199Arg) | |
| 18 | g.13884923A>G | CA401994764 | MC2R | c.596T>C (p.Leu199Pro) | COSMIC |
| 18 | g.13884923A>T | CA401994766 | MC2R | c.596T>A (p.Leu199Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884924G>A | CA503248404 | MC2R | c.595C>T (p.Leu199=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884924G>C | CA401994768 | MC2R | c.595C>G (p.Leu199Val) | gnomAD v3 gnomAD v4 |
| 18 | g.13884924G= | CA2285919338 | MC2R | c.595C= (p.Leu199=) | |
| 18 | g.13884924G>T | CA401994770 | MC2R | c.595C>A (p.Leu199Met) | |
| 18 | g.13884925C>A | CA503248405 | MC2R | c.594G>T (p.Leu198=) | |
| 18 | g.13884925C>G | CA503248407 | MC2R | c.594G>C (p.Leu198=) | |
| 18 | g.13884925C>T | CA503248409 | MC2R | c.594G>A (p.Leu198=) | |
| 18 | g.13884925_13884926insG | CA988025220 | MC2R | c.593_594insC (p.Leu199AlafsTer?) | gnomAD v3 gnomAD v4 |
| 18 | g.13884926A= | CA2285919339 | MC2R | c.593T= (p.Leu198=) | |
| 18 | g.13884926A>C | CA401994772 | MC2R | c.593T>G (p.Leu198Arg) | |
| 18 | g.13884926A>G | CA296828719 | MC2R | c.593T>C (p.Leu198Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884926A>T | CA296828716 | MC2R | c.593T>A (p.Leu198Gln) | dbSNP |
| 18 | g.13884927G>A | CA503248413 | MC2R | c.592C>T (p.Leu198=) | COSMIC |
| 18 | g.13884927G>C | CA401994777 | MC2R | c.592C>G (p.Leu198Val) | |
| 18 | g.13884927G>T | CA401994779 | MC2R | c.592C>A (p.Leu198Met) | gnomAD v4 |
| 18 | g.13884928G>A | CA8902444 | MC2R | c.591C>T (p.Phe197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884928G>C | CA401994781 | MC2R | c.591C>G (p.Phe197Leu) | dbSNP |
| 18 | g.13884928G= | CA2285919340 | MC2R | c.591C= (p.Phe197=) | |
| 18 | g.13884928G>T | CA401994783 | MC2R | c.591C>A (p.Phe197Leu) | |
| 18 | g.13884928_13884931del | CA988025230 | MC2R | c.588_591del (p.Met196IlefsTer19) | gnomAD v3 gnomAD v4 |
| 18 | g.13884929A= | CA2285919341 | MC2R | c.590T= (p.Phe197=) | |
| 18 | g.13884929A>C | CA401994787 | MC2R | c.590T>G (p.Phe197Cys) | dbSNP |
| 18 | g.13884929A>G | CA401994788 | MC2R | c.590T>C (p.Phe197Ser) | |
| 18 | g.13884929A>T | CA401994785 | MC2R | c.590T>A (p.Phe197Tyr) | |
| 18 | g.13884930A= | CA2285919342 | MC2R | c.589T= (p.Phe197=) | |
| 18 | g.13884930A>C | CA401994790 | MC2R | c.589T>G (p.Phe197Val) | |
| 18 | g.13884930A>G | CA401994792 | MC2R | c.589T>C (p.Phe197Leu) | dbSNP gnomAD v2 gnomAD v4 |