| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884580del | CA8902362 | MC2R | c.*46del (n.*46del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884581G>T | CA2641150749 | MC2R | c.*44C>A (n.*44C>A) | gnomAD v4 |
| 18 | g.13884582G>A | CA2576463981 | MC2R | c.*43C>T (n.*43C>T) | gnomAD v4 |
| 18 | g.13884582G>T | CA2641150750 | MC2R | c.*43C>A (n.*43C>A) | gnomAD v4 |
| 18 | g.13884583C>A | CA2561246026 | MC2R | c.*42G>T (n.*42G>T) | gnomAD v4 |
| 18 | g.13884583C= | CA2285919156 | MC2R | c.*42G= (n.*42G=) | |
| 18 | g.13884583C>T | CA628496348 | MC2R | c.*42G>A (n.*42G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884584A>G | CA2641150751 | MC2R | c.*41T>C (n.*41T>C) | gnomAD v4 |
| 18 | g.13884586C>A | CA2285919158 | MC2R | c.*39G>T (n.*39G>T) | dbSNP |
| 18 | g.13884586C= | CA2285919157 | MC2R | c.*39G= (n.*39G=) | |
| 18 | g.13884586C>T | CA8902363 | MC2R | c.*39G>A (n.*39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884587G>A | CA988024993 | MC2R | c.*38C>T (n.*38C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884587G>C | CA988025004 | MC2R | c.*38C>G (n.*38C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884587G= | CA2285919159 | MC2R | c.*38C= (n.*38C=) | |
| 18 | g.13884590A= | CA2285919160 | MC2R | c.*35T= (n.*35T=) | |
| 18 | g.13884590A>G | CA2641150752 | MC2R | c.*35T>C (n.*35T>C) | gnomAD v4 |
| 18 | g.13884590A>T | CA776350613 | MC2R | c.*35T>A (n.*35T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884591T>C | CA657538009 | MC2R | c.*34A>G (n.*34A>G) | COSMIC |
| 18 | g.13884592T>G | CA2641150753 | MC2R | c.*33A>C (n.*33A>C) | gnomAD v4 |
| 18 | g.13884593C>A | CA2641150754 | MC2R | c.*32G>T (n.*32G>T) | gnomAD v4 |
| 18 | g.13884593C= | CA2285919161 | MC2R | c.*32G= (n.*32G=) | |
| 18 | g.13884593C>G | CA628496349 | MC2R | c.*32G>C (n.*32G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884593C>T | CA8902364 | MC2R | c.*32G>A (n.*32G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884594C= | CA2285919162 | MC2R | c.*31G= (n.*31G=) | |
| 18 | g.13884594C>T | CA628496350 | MC2R | c.*31G>A (n.*31G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884595C>A | CA2641150755 | MC2R | c.*30G>T (n.*30G>T) | gnomAD v4 |
| 18 | g.13884596A= | CA2285919163 | MC2R | c.*29T= (n.*29T=) | |
| 18 | g.13884596A>G | CA8902365 | MC2R | c.*29T>C (n.*29T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884597T>C | CA2641150756 | MC2R | c.*28A>G (n.*28A>G) | gnomAD v4 |
| 18 | g.13884597_13884598delinsTG | CA2285919164 | MC2R | c.*27_*28delinsCA (n.*27_*28delinsCA) | |
| 18 | g.13884598G>A | CA10650584 | MC2R | c.*27C>T (n.*27C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884598G= | CA2285919165 | MC2R | c.*27C= (n.*27C=) | |
| 18 | g.13884599del | CA628496351 | MC2R | c.*27del (n.*27del) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884599G>A | CA2641150757 | MC2R | c.*26C>T (n.*26C>T) | gnomAD v4 |
| 18 | g.13884599G>C | CA2734686692 | MC2R | c.*26C>G (n.*26C>G) | dbSNP |
| 18 | g.13884600A>C | CA2641150758 | MC2R | c.*25T>G (n.*25T>G) | gnomAD v4 |
| 18 | g.13884600A>T | CA2641150759 | MC2R | c.*25T>A (n.*25T>A) | gnomAD v4 |
| 18 | g.13884602T>A | CA2641150760 | MC2R | c.*23A>T (n.*23A>T) | gnomAD v4 |
| 18 | g.13884602T>G | CA2285919167 | MC2R | c.*23A>C (n.*23A>C) | dbSNP |
| 18 | g.13884602T= | CA2285919166 | MC2R | c.*23A= (n.*23A=) | |
| 18 | g.13884603C>A | CA2641150761 | MC2R | c.*22G>T (n.*22G>T) | gnomAD v4 |
| 18 | g.13884603_13884604delinsCT | CA2285919168 | MC2R | c.*21_*22delinsAG (n.*21_*22delinsAG) | |
| 18 | g.13884604del | CA2285919169 | MC2R | c.*21del (n.*21del) | dbSNP |
| 18 | g.13884604T>C | CA8902366 | MC2R | c.*21A>G (n.*21A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884604T>G | CA776350624 | MC2R | c.*21A>C (n.*21A>C) | dbSNP |
| 18 | g.13884604T= | CA2285919170 | MC2R | c.*21A= (n.*21A=) | |
| 18 | g.13884605A= | CA2285919171 | MC2R | c.*20T= (n.*20T=) | |
| 18 | g.13884605A>G | CA628496352 | MC2R | c.*20T>C (n.*20T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884605A>T | CA2501464509 | MC2R | c.*20T>A (n.*20T>A) | |
| 18 | g.13884606_13884612delinsAAACCAG | CA2285919172 | MC2R | c.*13_*19delinsCTGGTTT (n.*13_*19delinsCTGGTTT) |