Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13884726T>A | CA401993905 | MC2R | c.793A>T (p.Ile265Phe) | |
18 | g.13884726T>C | CA401993907 | MC2R | c.793A>G (p.Ile265Val) | |
18 | g.13884726T>G | CA401993908 | MC2R | c.793A>C (p.Ile265Leu) | |
18 | g.13884726_13884727delinsTC | CA2285919242 | MC2R | c.792_793delinsGA (p.Leu264=) | |
18 | g.13884727del | CA919934279 | MC2R | c.792del (p.Ile265SerfsTer26) | dbSNP |
18 | g.13884727C>A | CA401993911 | MC2R | c.792G>T (p.Leu264Phe) | |
18 | g.13884727C= | CA2285919243 | MC2R | c.792G= (p.Leu264=) | |
18 | g.13884727C>G | CA401993913 | MC2R | c.792G>C (p.Leu264Phe) | |
18 | g.13884727C>T | CA503010693 | MC2R | c.792G>A (p.Leu264=) | dbSNP |
18 | g.13884728A= | CA2285919244 | MC2R | c.791T= (p.Leu264=) | |
18 | g.13884728A>C | CA401993915 | MC2R | c.791T>G (p.Leu264Trp) | |
18 | g.13884728A>G | CA8902404 | MC2R | c.791T>C (p.Leu264Ser) | dbSNP ExAC gnomAD v2 |
18 | g.13884728A>T | CA401993917 | MC2R | c.791T>A (p.Leu264Ter) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884729A>C | CA401993920 | MC2R | c.790T>G (p.Leu264Val) | |
18 | g.13884729A>G | CA503010694 | MC2R | c.790T>C (p.Leu264=) | gnomAD v4 |
18 | g.13884729A>T | CA401993922 | MC2R | c.790T>A (p.Leu264Met) | |
18 | g.13884730C>A | CA401993923 | MC2R | c.789G>T (p.Met263Ile) | |
18 | g.13884730C>G | CA401993925 | MC2R | c.789G>C (p.Met263Ile) | |
18 | g.13884730C>T | CA401993927 | MC2R | c.789G>A (p.Met263Ile) | |
18 | g.13884731A>C | CA401993930 | MC2R | c.788T>G (p.Met263Arg) | |
18 | g.13884731A>G | CA401993932 | MC2R | c.788T>C (p.Met263Thr) | |
18 | g.13884731A>T | CA401993933 | MC2R | c.788T>A (p.Met263Lys) | |
18 | g.13884732T>A | CA401993934 | MC2R | c.787A>T (p.Met263Leu) | gnomAD v4 |
18 | g.13884732T>C | CA401993936 | MC2R | c.787A>G (p.Met263Val) | |
18 | g.13884732T>G | CA401993938 | MC2R | c.787A>C (p.Met263Leu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884732T= | CA2285919245 | MC2R | c.787A= (p.Met263=) | |
18 | g.13884733G>A | CA503010695 | MC2R | c.786C>T (p.Gly262=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884733G>C | CA503010696 | MC2R | c.786C>G (p.Gly262=) | |
18 | g.13884733G= | CA2285919246 | MC2R | c.786C= (p.Gly262=) | |
18 | g.13884733G>T | CA503010697 | MC2R | c.786C>A (p.Gly262=) | |
18 | g.13884734C>A | CA401993943 | MC2R | c.785G>T (p.Gly262Val) | |
18 | g.13884734C= | CA2285919247 | MC2R | c.785G= (p.Gly262=) | |
18 | g.13884734C>G | CA401993942 | MC2R | c.785G>C (p.Gly262Ala) | |
18 | g.13884734C>T | CA296828583 | MC2R | c.785G>A (p.Gly262Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884735C>A | CA401993944 | MC2R | c.784G>T (p.Gly262Cys) | |
18 | g.13884735C= | CA2285919248 | MC2R | c.784G= (p.Gly262=) | |
18 | g.13884735C>G | CA401993945 | MC2R | c.784G>C (p.Gly262Arg) | |
18 | g.13884735C>T | CA8902405 | MC2R | c.784G>A (p.Gly262Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884736G>A | CA8902406 | MC2R | c.783C>T (p.Asn261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884736G>C | CA401993949 | MC2R | c.783C>G (p.Asn261Lys) | |
18 | g.13884736G= | CA2285919249 | MC2R | c.783C= (p.Asn261=) | |
18 | g.13884736G>T | CA401993951 | MC2R | c.783C>A (p.Asn261Lys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884737T>A | CA401993953 | MC2R | c.782A>T (p.Asn261Ile) | |
18 | g.13884737T>C | CA401993954 | MC2R | c.782A>G (p.Asn261Ser) | |
18 | g.13884737T>G | CA401993955 | MC2R | c.782A>C (p.Asn261Thr) | |
18 | g.13884738T>A | CA401993956 | MC2R | c.781A>T (p.Asn261Tyr) | |
18 | g.13884738T>C | CA401993958 | MC2R | c.781A>G (p.Asn261Asp) | |
18 | g.13884738T>G | CA401993960 | MC2R | c.781A>C (p.Asn261His) | |
18 | g.13884739C>A | CA503010698 | MC2R | c.780G>T (p.Val260=) | |
18 | g.13884739C>G | CA503010699 | MC2R | c.780G>C (p.Val260=) |