Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
18 | g.13884681T>G | CA401993717 | MC2R | c.838A>C (p.Ser280Arg) | |
18 | g.13884682C>A | CA503010672 | MC2R | c.837G>T (p.Arg279=) | |
18 | g.13884682C>G | CA503010674 | MC2R | c.837G>C (p.Arg279=) | |
18 | g.13884682C>T | CA503010673 | MC2R | c.837G>A (p.Arg279=) | |
18 | g.13884683C>A | CA8902390 | MC2R | c.836G>T (p.Arg279Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884683C= | CA2285919215 | MC2R | c.836G= (p.Arg279=) | |
18 | g.13884683C>G | CA401993720 | MC2R | c.836G>C (p.Arg279Pro) | |
18 | g.13884683C>T | CA401993721 | MC2R | c.836G>A (p.Arg279Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884684G>A | CA296828539 | MC2R | c.835C>T (p.Arg279Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884684G>C | CA401993723 | MC2R | c.835C>G (p.Arg279Gly) | COSMIC |
18 | g.13884684G= | CA2285919216 | MC2R | c.835C= (p.Arg279=) |