| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884657dup | CA2695227237 | MC2R | c.866dup (p.Met290AspfsTer?) | |
| 18 | g.13884654T>A | CA401993602 | MC2R | c.865A>T (p.Lys289Ter) | |
| 18 | g.13884654T>C | CA401993604 | MC2R | c.865A>G (p.Lys289Glu) | |
| 18 | g.13884654T>G | CA401993605 | MC2R | c.865A>C (p.Lys289Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884654T= | CA2285919202 | MC2R | c.865A= (p.Lys289=) | |
| 18 | g.13884655T>A | CA401993606 | MC2R | c.864A>T (p.Lys288Asn) | |
| 18 | g.13884655T>C | CA503010659 | MC2R | c.864A>G (p.Lys288=) | |
| 18 | g.13884655T>G | CA401993608 | MC2R | c.864A>C (p.Lys288Asn) | |
| 18 | g.13884656T>A | CA401993610 | MC2R | c.863A>T (p.Lys288Ile) | |
| 18 | g.13884656T>C | CA296828515 | MC2R | c.863A>G (p.Lys288Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884656T>G | CA401993612 | MC2R | c.863A>C (p.Lys288Thr) | |
| 18 | g.13884656T= | CA2285919203 | MC2R | c.863A= (p.Lys288=) | |
| 18 | g.13884657T>A | CA401993618 | MC2R | c.862A>T (p.Lys288Ter) | |
| 18 | g.13884657T>C | CA401993615 | MC2R | c.862A>G (p.Lys288Glu) | |
| 18 | g.13884657T>G | CA296828519 | MC2R | c.862A>C (p.Lys288Gln) | dbSNP |
| 18 | g.13884657T= | CA2285919204 | MC2R | c.862A= (p.Lys288=) | |
| 18 | g.13884658G>A | CA503010660 | MC2R | c.861C>T (p.Phe287=) | |
| 18 | g.13884658G>C | CA401993620 | MC2R | c.861C>G (p.Phe287Leu) | |
| 18 | g.13884658G= | CA2285919205 | MC2R | c.861C= (p.Phe287=) | |
| 18 | g.13884658G>T | CA8902385 | MC2R | c.861C>A (p.Phe287Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884659A>C | CA401993624 | MC2R | c.860T>G (p.Phe287Cys) | |
| 18 | g.13884659A>G | CA401993625 | MC2R | c.860T>C (p.Phe287Ser) | |
| 18 | g.13884659A>T | CA401993626 | MC2R | c.860T>A (p.Phe287Tyr) | |
| 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=) |