Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13884668del | CA2641150769 | MC2R | c.853del (p.Asp285ThrfsTer6) | gnomAD v4 |
18 | g.13884668C>A | CA401993661 | MC2R | c.851G>T (p.Arg284Met) | |
18 | g.13884668C>G | CA401993662 | MC2R | c.851G>C (p.Arg284Thr) | |
18 | g.13884668C>T | CA401993663 | MC2R | c.851G>A (p.Arg284Lys) | |
18 | g.13884669T>A | CA401993664 | MC2R | c.850A>T (p.Arg284Trp) | |
18 | g.13884669T>C | CA401993665 | MC2R | c.850A>G (p.Arg284Gly) | dbSNP gnomAD v4 |
18 | g.13884669T>G | CA503010664 | MC2R | c.850A>C (p.Arg284=) | |
18 | g.13884669T= | CA2285919210 | MC2R | c.850A= (p.Arg284=) | |
18 | g.13884670G>A | CA503010665 | MC2R | c.849C>T (p.Leu283=) | |
18 | g.13884670G>C | CA503010666 | MC2R | c.849C>G (p.Leu283=) | |
18 | g.13884670G>T | CA503010667 | MC2R | c.849C>A (p.Leu283=) | |
18 | g.13884671A= | CA2285919211 | MC2R | c.848T= (p.Leu283=) | |
18 | g.13884671A>C | CA401993668 | MC2R | c.848T>G (p.Leu283Arg) | |
18 | g.13884671A>G | CA401993669 | MC2R | c.848T>C (p.Leu283Pro) | |
18 | g.13884671A>T | CA401993670 | MC2R | c.848T>A (p.Leu283His) | |
18 | g.13884672G>A | CA401993677 | MC2R | c.847C>T (p.Leu283Phe) | |
18 | g.13884672G>C | CA401993675 | MC2R | c.847C>G (p.Leu283Val) | dbSNP gnomAD v4 |
18 | g.13884672G= | CA2285919212 | MC2R | c.847C= (p.Leu283=) | |
18 | g.13884672G>T | CA401993674 | MC2R | c.847C>A (p.Leu283Ile) | |
18 | g.13884672dup | CA628496354 | MC2R | c.847dup (p.Leu283ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884676_13884682del | CA2641150770 | MC2R | c.841_847del (p.Pro281SerfsTer8) | gnomAD v4 |
18 | g.13884673C>A | CA401993680 | MC2R | c.846G>T (p.Glu282Asp) | gnomAD v4 |
18 | g.13884673C= | CA2285919213 | MC2R | c.846G= (p.Glu282=) | |
18 | g.13884673C>G | CA296828532 | MC2R | c.846G>C (p.Glu282Asp) | dbSNP gnomAD v4 |
18 | g.13884673C>T | CA296828535 | MC2R | c.846G>A (p.Glu282=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884674T>A | CA401993684 | MC2R | c.845A>T (p.Glu282Val) | |
18 | g.13884674T>C | CA401993685 | MC2R | c.845A>G (p.Glu282Gly) | |
18 | g.13884674T>G | CA401993686 | MC2R | c.845A>C (p.Glu282Ala) | |
18 | g.13884675C>A | CA401993689 | MC2R | c.844G>T (p.Glu282Ter) | |
18 | g.13884675C>G | CA401993691 | MC2R | c.844G>C (p.Glu282Gln) | |
18 | g.13884675C>T | CA401993692 | MC2R | c.844G>A (p.Glu282Lys) | |
18 | g.13884676T>A | CA503010668 | MC2R | c.843A>T (p.Pro281=) | |
18 | g.13884676T>C | CA503010669 | MC2R | c.843A>G (p.Pro281=) | |
18 | g.13884676T>G | CA503010670 | MC2R | c.843A>C (p.Pro281=) | |
18 | g.13884676_13884677delinsTG | CA2285919214 | MC2R | c.842_843delinsCA (p.Pro281=) | |
18 | g.13884677G>A | CA401993693 | MC2R | c.842C>T (p.Pro281Leu) | |
18 | g.13884677G>C | CA401993694 | MC2R | c.842C>G (p.Pro281Arg) | COSMIC |
18 | g.13884677G>T | CA401993695 | MC2R | c.842C>A (p.Pro281Gln) | |
18 | g.13884679del | CA776350773 | MC2R | c.842del (p.Pro281GlnfsTer10) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884678G>A | CA401993700 | MC2R | c.841C>T (p.Pro281Ser) | |
18 | g.13884678G>C | CA401993699 | MC2R | c.841C>G (p.Pro281Ala) | |
18 | g.13884678G>T | CA401993698 | MC2R | c.841C>A (p.Pro281Thr) | |
18 | g.13884679G>A | CA503010671 | MC2R | c.840C>T (p.Ser280=) | |
18 | g.13884679G>C | CA401993703 | MC2R | c.840C>G (p.Ser280Arg) | |
18 | g.13884679G>T | CA401993705 | MC2R | c.840C>A (p.Ser280Arg) | |
18 | g.13884680C>A | CA401993707 | MC2R | c.839G>T (p.Ser280Ile) | |
18 | g.13884680C>G | CA401993709 | MC2R | c.839G>C (p.Ser280Thr) | |
18 | g.13884680C>T | CA401993711 | MC2R | c.839G>A (p.Ser280Asn) | gnomAD v4 |
18 | g.13884681T>A | CA401993714 | MC2R | c.838A>T (p.Ser280Cys) | |
18 | g.13884681T>C | CA401993716 | MC2R | c.838A>G (p.Ser280Gly) |