Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13885305G>A | CA8902530 | MC2R | c.214C>T (p.Leu72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885305G>C | CA401995714 | MC2R | c.214C>G (p.Leu72Val) | |
18 | g.13885305G= | CA2285919516 | MC2R | c.214C= (p.Leu72=) | |
18 | g.13885305G>T | CA401995715 | MC2R | c.214C>A (p.Leu72Met) | |
18 | g.13885306C>A | CA401995716 | MC2R | c.213G>T (p.Met71Ile) | gnomAD v4 |
18 | g.13885306C= | CA2285919517 | MC2R | c.213G= (p.Met71=) | |
18 | g.13885306C>G | CA401995717 | MC2R | c.213G>C (p.Met71Ile) | |
18 | g.13885306C>T | CA401995718 | MC2R | c.213G>A (p.Met71Ile) | dbSNP |
18 | g.13885307A>C | CA401995721 | MC2R | c.212T>G (p.Met71Arg) | |
18 | g.13885307A>G | CA401995720 | MC2R | c.212T>C (p.Met71Thr) | gnomAD v4 |
18 | g.13885307A>T | CA401995719 | MC2R | c.212T>A (p.Met71Lys) | |
18 | g.13885308T>A | CA401995722 | MC2R | c.211A>T (p.Met71Leu) | |
18 | g.13885308T>C | CA401995724 | MC2R | c.211A>G (p.Met71Val) | |
18 | g.13885308T>G | CA401995723 | MC2R | c.211A>C (p.Met71Leu) | dbSNP gnomAD v4 |
18 | g.13885308T= | CA2285919518 | MC2R | c.211A= (p.Met71=) | |
18 | g.13885309A>C | CA401995725 | MC2R | c.210T>G (p.Asp70Glu) | |
18 | g.13885309A>G | CA503248286 | MC2R | c.210T>C (p.Asp70=) | |
18 | g.13885309A>T | CA401995726 | MC2R | c.210T>A (p.Asp70Glu) | |
18 | g.13885310T>A | CA401995727 | MC2R | c.209A>T (p.Asp70Val) | |
18 | g.13885310T>C | CA401995729 | MC2R | c.209A>G (p.Asp70Gly) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885310T>G | CA401995728 | MC2R | c.209A>C (p.Asp70Ala) | |
18 | g.13885310T= | CA2285919519 | MC2R | c.209A= (p.Asp70=) | |
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=) |