| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884676_13884682del | CA2641150770 | MC2R | c.841_847del (p.Pro281SerfsTer8) | gnomAD v4 |
| 18 | g.13884680C>A | CA401993707 | MC2R | c.839G>T (p.Ser280Ile) | |
| 18 | g.13884680C>G | CA401993709 | MC2R | c.839G>C (p.Ser280Thr) | |
| 18 | g.13884680C>T | CA401993711 | MC2R | c.839G>A (p.Ser280Asn) | gnomAD v4 |
| 18 | g.13884681T>A | CA401993714 | MC2R | c.838A>T (p.Ser280Cys) | |
| 18 | g.13884681T>C | CA401993716 | MC2R | c.838A>G (p.Ser280Gly) | |
| 18 | g.13884681T>G | CA401993717 | MC2R | c.838A>C (p.Ser280Arg) | |
| 18 | g.13884682C>A | CA503010672 | MC2R | c.837G>T (p.Arg279=) | |
| 18 | g.13884682C>G | CA503010674 | MC2R | c.837G>C (p.Arg279=) | |
| 18 | g.13884682C>T | CA503010673 | MC2R | c.837G>A (p.Arg279=) | |
| 18 | g.13884683C>A | CA8902390 | MC2R | c.836G>T (p.Arg279Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884683C= | CA2285919215 | MC2R | c.836G= (p.Arg279=) | |
| 18 | g.13884683C>G | CA401993720 | MC2R | c.836G>C (p.Arg279Pro) | |
| 18 | g.13884683C>T | CA401993721 | MC2R | c.836G>A (p.Arg279Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884684G>A | CA296828539 | MC2R | c.835C>T (p.Arg279Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884684G>C | CA401993723 | MC2R | c.835C>G (p.Arg279Gly) | COSMIC |
| 18 | g.13884684G= | CA2285919216 | MC2R | c.835C= (p.Arg279=) | |
| 18 | g.13884684G>T | CA503010675 | MC2R | c.835C>A (p.Arg279=) | gnomAD v4 |
| 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 |