Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13884660A>C | CA401993628 | MC2R | c.859T>G (p.Phe287Val) | |
18 | g.13884660A>G | CA401993629 | MC2R | c.859T>C (p.Phe287Leu) | |
18 | g.13884660A>T | CA401993630 | MC2R | c.859T>A (p.Phe287Ile) | |
18 | g.13884661T>A | CA503010662 | MC2R | c.858A>T (p.Ala286=) | |
18 | g.13884661T>C | CA503010663 | MC2R | c.858A>G (p.Ala286=) | gnomAD v4 |
18 | g.13884661T>G | CA503010661 | MC2R | c.858A>C (p.Ala286=) | gnomAD v4 |
18 | g.13884662G>A | CA401993631 | MC2R | c.857C>T (p.Ala286Val) | |
18 | g.13884662G>C | CA401993633 | MC2R | c.857C>G (p.Ala286Gly) | |
18 | g.13884662G>T | CA401993635 | MC2R | c.857C>A (p.Ala286Glu) | |
18 | g.13884663C>A | CA401993637 | MC2R | c.856G>T (p.Ala286Ser) | gnomAD v4 |
18 | g.13884663C= | CA2285919206 | MC2R | c.856G= (p.Ala286=) | |
18 | g.13884663C>G | CA401993639 | MC2R | c.856G>C (p.Ala286Pro) | |
18 | g.13884663C>T | CA8902386 | MC2R | c.856G>A (p.Ala286Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884664G>A | CA8902387 | MC2R | c.855C>T (p.Asp285=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884664G>C | CA401993645 | MC2R | c.855C>G (p.Asp285Glu) | |
18 | g.13884664G= | CA2285919207 | MC2R | c.855C= (p.Asp285=) | |
18 | g.13884664G>T | CA401993643 | MC2R | c.855C>A (p.Asp285Glu) | |
18 | g.13884665T>A | CA401993647 | MC2R | c.854A>T (p.Asp285Val) | |
18 | g.13884665T>C | CA401993651 | MC2R | c.854A>G (p.Asp285Gly) | |
18 | g.13884665T>G | CA401993649 | MC2R | c.854A>C (p.Asp285Ala) | |
18 | g.13884666C>A | CA401993653 | MC2R | c.853G>T (p.Asp285Tyr) | |
18 | g.13884666C= | CA2285919208 | MC2R | c.853G= (p.Asp285=) | |
18 | g.13884666C>G | CA8902388 | MC2R | c.853G>C (p.Asp285His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884666C>T | CA401993655 | MC2R | c.853G>A (p.Asp285Asn) | |
18 | g.13884668del | CA2641150769 | MC2R | c.853del (p.Asp285ThrfsTer6) | gnomAD v4 |
18 | g.13884667C>A | CA401993657 | MC2R | c.852G>T (p.Arg284Ser) | |
18 | g.13884667C= | CA2285919209 | MC2R | c.852G= (p.Arg284=) | |
18 | g.13884667C>G | CA401993660 | MC2R | c.852G>C (p.Arg284Ser) | gnomAD v4 |
18 | g.13884667C>T | CA8902389 | MC2R | c.852G>A (p.Arg284=) | dbSNP ExAC gnomAD v2 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 |