| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884685G>A | CA503010676 | MC2R | c.834C>T (p.Phe278=) | gnomAD v4 |
| 18 | g.13884685G>C | CA401993725 | MC2R | c.834C>G (p.Phe278Leu) | |
| 18 | g.13884685G>T | CA401993727 | MC2R | c.834C>A (p.Phe278Leu) | |
| 18 | g.13884686A= | CA2285919217 | MC2R | c.833T= (p.Phe278=) | |
| 18 | g.13884686A>C | CA8902391 | MC2R | c.833T>G (p.Phe278Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884686A>G | CA401993729 | MC2R | c.833T>C (p.Phe278Ser) | gnomAD v4 |
| 18 | g.13884686A>T | CA401993731 | MC2R | c.833T>A (p.Phe278Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884687A>C | CA401993733 | MC2R | c.832T>G (p.Phe278Val) | |
| 18 | g.13884687A>G | CA401993735 | MC2R | c.832T>C (p.Phe278Leu) | |
| 18 | g.13884687A>T | CA401993737 | MC2R | c.832T>A (p.Phe278Ile) | |
| 18 | g.13884688G>A | CA8902392 | MC2R | c.831C>T (p.Ala277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884688G>C | CA8902393 | MC2R | c.831C>G (p.Ala277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884688G= | CA2285919219 | MC2R | c.831C= (p.Ala277=) | |
| 18 | g.13884688G>T | CA503010677 | MC2R | c.831C>A (p.Ala277=) | ClinVar |
| 18 | g.13884688_13884692delinsGGCAT | CA2285919218 | MC2R | c.827_831delinsATGCC (p.Tyr276=) | |
| 18 | g.13884689G>A | CA401993740 | MC2R | c.830C>T (p.Ala277Val) | gnomAD v4 |
| 18 | g.13884689G>C | CA401993741 | MC2R | c.830C>G (p.Ala277Gly) | gnomAD v4 |
| 18 | g.13884689G>T | CA401993743 | MC2R | c.830C>A (p.Ala277Asp) | |
| 18 | g.13884689_13884692del | CA776350804 | MC2R | c.827_830del (p.Tyr276SerfsTer14) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884690C>A | CA401993749 | MC2R | c.829G>T (p.Ala277Ser) | |
| 18 | g.13884690C>G | CA401993747 | MC2R | c.829G>C (p.Ala277Pro) | |
| 18 | g.13884690C>T | CA401993745 | MC2R | c.829G>A (p.Ala277Thr) | COSMIC |
| 18 | g.13884691A= | CA2285919220 | MC2R | c.828T= (p.Tyr276=) | |
| 18 | g.13884691A>C | CA401993751 | MC2R | c.828T>G (p.Tyr276Ter) | |
| 18 | g.13884691A>G | CA8902394 | MC2R | c.828T>C (p.Tyr276=) | dbSNP ExAC gnomAD v2 |
| 18 | g.13884691A>T | CA401993752 | MC2R | c.828T>A (p.Tyr276Ter) | dbSNP |
| 18 | g.13884692T>A | CA401993755 | MC2R | c.827A>T (p.Tyr276Phe) | |
| 18 | g.13884692T>C | CA296828548 | MC2R | c.827A>G (p.Tyr276Cys) | dbSNP |
| 18 | g.13884692T>G | CA401993757 | MC2R | c.827A>C (p.Tyr276Ser) | |
| 18 | g.13884692T= | CA2285919221 | MC2R | c.827A= (p.Tyr276=) | |
| 18 | g.13884693A= | CA2285919222 | MC2R | c.826T= (p.Tyr276=) | |
| 18 | g.13884693A>C | CA8902395 | MC2R | c.826T>G (p.Tyr276Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884693A>G | CA401993761 | MC2R | c.826T>C (p.Tyr276His) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884693A>T | CA401993762 | MC2R | c.826T>A (p.Tyr276Asn) | |
| 18 | g.13884694T>A | CA503010678 | MC2R | c.825A>T (p.Ile275=) | |
| 18 | g.13884694T>C | CA401993764 | MC2R | c.825A>G (p.Ile275Met) | |
| 18 | g.13884694T>G | CA503010679 | MC2R | c.825A>C (p.Ile275=) | |
| 18 | g.13884695A= | CA2285919223 | MC2R | c.824T= (p.Ile275=) | |
| 18 | g.13884695A>C | CA401993766 | MC2R | c.824T>G (p.Ile275Arg) | |
| 18 | g.13884695A>G | CA401993768 | MC2R | c.824T>C (p.Ile275Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884695A>T | CA401993770 | MC2R | c.824T>A (p.Ile275Lys) | |
| 18 | g.13884696T>A | CA401993775 | MC2R | c.823A>T (p.Ile275Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884696T>C | CA8902396 | MC2R | c.823A>G (p.Ile275Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884696T>G | CA401993772 | MC2R | c.823A>C (p.Ile275Leu) | |
| 18 | g.13884696T= | CA2285919224 | MC2R | c.823A= (p.Ile275=) | |
| 18 | g.13884697G>A | CA296828555 | MC2R | c.822C>T (p.Phe274=) | dbSNP gnomAD v4 |
| 18 | g.13884697G>C | CA401993777 | MC2R | c.822C>G (p.Phe274Leu) | |
| 18 | g.13884697G= | CA2285919225 | MC2R | c.822C= (p.Phe274=) | |
| 18 | g.13884697G>T | CA401993779 | MC2R | c.822C>A (p.Phe274Leu) | |
| 18 | g.13884698A>C | CA401993781 | MC2R | c.821T>G (p.Phe274Cys) |