Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13885311C>A | CA401995730 | MC2R | c.208G>T (p.Asp70Tyr) | dbSNP |
18 | g.13885311C= | CA2285919520 | MC2R | c.208G= (p.Asp70=) | |
18 | g.13885311C>G | CA8902531 | MC2R | c.208G>C (p.Asp70His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885311C>T | CA401995731 | MC2R | c.208G>A (p.Asp70Asn) | |
18 | g.13885312A= | CA2285919521 | MC2R | c.207T= (p.Ser69=) | |
18 | g.13885312A>C | CA503248291 | MC2R | c.207T>G (p.Ser69=) | |
18 | g.13885312A>G | CA503248292 | MC2R | c.207T>C (p.Ser69=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885312A>T | CA503248293 | MC2R | c.207T>A (p.Ser69=) | |
18 | g.13885313G>A | CA401995732 | MC2R | c.206C>T (p.Ser69Phe) | COSMIC |
18 | g.13885313G>C | CA401995733 | MC2R | c.206C>G (p.Ser69Cys) | gnomAD v4 |
18 | g.13885313G>T | CA401995734 | MC2R | c.206C>A (p.Ser69Tyr) | |
18 | g.13885314A>C | CA401995735 | MC2R | c.205T>G (p.Ser69Ala) | |
18 | g.13885314A>G | CA401995736 | MC2R | c.205T>C (p.Ser69Pro) | |
18 | g.13885314A>T | CA401995737 | MC2R | c.205T>A (p.Ser69Thr) | |
18 | g.13885315_13885322del | CA2641148024 | MC2R | c.198_205del (p.Leu66PhefsTer2) | gnomAD v4 |
18 | g.13885315T>A | CA503248295 | MC2R | c.204A>T (p.Ile68=) | |
18 | g.13885315T>C | CA401995738 | MC2R | c.204A>G (p.Ile68Met) | |
18 | g.13885315T>G | CA503248298 | MC2R | c.204A>C (p.Ile68=) | |
18 | g.13885316A>C | CA401995741 | MC2R | c.203T>G (p.Ile68Arg) | |
18 | g.13885316A>G | CA401995740 | MC2R | c.203T>C (p.Ile68Thr) | |
18 | g.13885316A>T | CA401995739 | MC2R | c.203T>A (p.Ile68Lys) | |
18 | g.13885317T>A | CA401995742 | MC2R | c.202A>T (p.Ile68Leu) | |
18 | g.13885317T>C | CA401995743 | MC2R | c.202A>G (p.Ile68Val) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885317T>G | CA401995744 | MC2R | c.202A>C (p.Ile68Leu) | gnomAD v4 |
18 | g.13885317T= | CA2285919522 | MC2R | c.202A= (p.Ile68=) | |
18 | g.13885318G>A | CA503248299 | MC2R | c.201C>T (p.Ala67=) | |
18 | g.13885318G>C | CA503248300 | MC2R | c.201C>G (p.Ala67=) | |
18 | g.13885318G>T | CA503248301 | MC2R | c.201C>A (p.Ala67=) | |
18 | g.13885319G>A | CA401995745 | MC2R | c.200C>T (p.Ala67Val) | |
18 | g.13885319G>C | CA401995746 | MC2R | c.200C>G (p.Ala67Gly) | |
18 | g.13885319G>T | CA401995747 | MC2R | c.200C>A (p.Ala67Asp) | COSMIC |
18 | g.13885321_13885325del | CA2641148025 | MC2R | c.196_200del (p.Leu66HisfsTer3) | gnomAD v4 |
18 | g.13885320C>A | CA401995748 | MC2R | c.199G>T (p.Ala67Ser) | |
18 | g.13885320C>G | CA401995749 | MC2R | c.199G>C (p.Ala67Pro) | |
18 | g.13885320C>T | CA401995750 | MC2R | c.199G>A (p.Ala67Thr) | |
18 | g.13885321C>A | CA401995751 | MC2R | c.198G>T (p.Leu66Phe) | |
18 | g.13885321C>G | CA401995752 | MC2R | c.198G>C (p.Leu66Phe) | |
18 | g.13885321C>T | CA503248304 | MC2R | c.198G>A (p.Leu66=) | |
18 | g.13885322A>C | CA401995755 | MC2R | c.197T>G (p.Leu66Trp) | |
18 | g.13885322A>G | CA401995754 | MC2R | c.197T>C (p.Leu66Ser) | |
18 | g.13885322A>T | CA401995753 | MC2R | c.197T>A (p.Leu66Ter) | gnomAD v4 |
18 | g.13885323A= | CA2285919523 | MC2R | c.196T= (p.Leu66=) | |
18 | g.13885323A>C | CA401995756 | MC2R | c.196T>G (p.Leu66Val) | |
18 | g.13885323A>G | CA503248305 | MC2R | c.196T>C (p.Leu66=) | dbSNP |
18 | g.13885323A>T | CA401995757 | MC2R | c.196T>A (p.Leu66Met) | COSMIC |
18 | g.13885324G>A | CA503248308 | MC2R | c.195C>T (p.Ser65=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885324G>C | CA401995758 | MC2R | c.195C>G (p.Ser65Arg) | |
18 | g.13885324G= | CA2285919524 | MC2R | c.195C= (p.Ser65=) | |
18 | g.13885324G>T | CA401995759 | MC2R | c.195C>A (p.Ser65Arg) | |
18 | g.13885325C>A | CA401995760 | MC2R | c.194G>T (p.Ser65Ile) |