| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.60371826_60371827delinsGC | CA2307359152 | MC4R | c.523_524delinsGC (p.Ala175=) | |
| 18 | g.60371827C>A | CA402719628 | MC4R | c.523G>T (p.Ala175Ser) | |
| 18 | g.60371827C= | CA2307359154 | MC4R | c.523G= (p.Ala175=) | |
| 18 | g.60371827C>G | CA402719629 | MC4R | c.523G>C (p.Ala175Pro) | |
| 18 | g.60371827C>T | CA210719 | MC4R | c.523G>A (p.Ala175Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371829del | CA2307359153 | MC4R | c.523del (p.Ala175GlnfsTer?) | dbSNP |
| 18 | g.60371828C>A | CA402719630 | MC4R | c.522G>T (p.Trp174Cys) | |
| 18 | g.60371828C= | CA2307359155 | MC4R | c.522G= (p.Trp174=) | |
| 18 | g.60371828C>G | CA402719631 | MC4R | c.522G>C (p.Trp174Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371828C>T | CA402719632 | MC4R | c.522G>A (p.Trp174Ter) | |
| 18 | g.60371829C>A | CA402719633 | MC4R | c.521G>T (p.Trp174Leu) | |
| 18 | g.60371829C= | CA2307359156 | MC4R | c.521G= (p.Trp174=) | |
| 18 | g.60371829C>G | CA402719634 | MC4R | c.521G>C (p.Trp174Ser) | gnomAD v4 |
| 18 | g.60371829C>T | CA301530033 | MC4R | c.521G>A (p.Trp174Ter) | dbSNP |
| 18 | g.60371830A>C | CA402719635 | MC4R | c.520T>G (p.Trp174Gly) | |
| 18 | g.60371830A>G | CA402719636 | MC4R | c.520T>C (p.Trp174Arg) | gnomAD v4 |
| 18 | g.60371830A>T | CA402719637 | MC4R | c.520T>A (p.Trp174Arg) | |
| 18 | g.60371831G>A | CA504305336 | MC4R | c.519C>T (p.Ile173=) | |
| 18 | g.60371831G>C | CA402719638 | MC4R | c.519C>G (p.Ile173Met) | dbSNP COSMIC |
| 18 | g.60371831G= | CA2307359157 | MC4R | c.519C= (p.Ile173=) | |
| 18 | g.60371831G>T | CA504305341 | MC4R | c.519C>A (p.Ile173=) | |
| 18 | g.60371832A>C | CA402719639 | MC4R | c.518T>G (p.Ile173Ser) | |
| 18 | g.60371832A>G | CA402719641 | MC4R | c.518T>C (p.Ile173Thr) | gnomAD v4 |
| 18 | g.60371832A>T | CA402719640 | MC4R | c.518T>A (p.Ile173Asn) | gnomAD v4 |
| 18 | g.60371834_60371842del | CA2642029301 | MC4R | c.510_518del (p.Ser171_Ile173del) | gnomAD v4 |
| 18 | g.60371833T>A | CA402719642 | MC4R | c.517A>T (p.Ile173Phe) | |
| 18 | g.60371833T>C | CA402719643 | MC4R | c.517A>G (p.Ile173Val) | gnomAD v4 |
| 18 | g.60371833T>G | CA402719644 | MC4R | c.517A>C (p.Ile173Leu) | |
| 18 | g.60371834A= | CA2307359158 | MC4R | c.516T= (p.Cys172=) | |
| 18 | g.60371834A>C | CA402719645 | MC4R | c.516T>G (p.Cys172Trp) | |
| 18 | g.60371834A>G | CA504305349 | MC4R | c.516T>C (p.Cys172=) | dbSNP |
| 18 | g.60371834A>T | CA402719646 | MC4R | c.516T>A (p.Cys172Ter) | |
| 18 | g.60371835C>A | CA402719649 | MC4R | c.515G>T (p.Cys172Phe) | |
| 18 | g.60371835C>G | CA402719648 | MC4R | c.515G>C (p.Cys172Ser) | gnomAD v4 |
| 18 | g.60371835C>T | CA402719647 | MC4R | c.515G>A (p.Cys172Tyr) | |
| 18 | g.60371836A>C | CA402719650 | MC4R | c.514T>G (p.Cys172Gly) | |
| 18 | g.60371836A>G | CA402719651 | MC4R | c.514T>C (p.Cys172Arg) | |
| 18 | g.60371836A>T | CA402719652 | MC4R | c.514T>A (p.Cys172Ser) | |
| 18 | g.60371837A= | CA2307359159 | MC4R | c.513T= (p.Ser171=) | |
| 18 | g.60371837A>C | CA402719653 | MC4R | c.513T>G (p.Ser171Arg) | |
| 18 | g.60371837A>G | CA8980903 | MC4R | c.513T>C (p.Ser171=) | dbSNP ExAC gnomAD v2 |
| 18 | g.60371837A>T | CA402719654 | MC4R | c.513T>A (p.Ser171Arg) | |
| 18 | g.60371838C>A | CA8980904 | MC4R | c.512G>T (p.Ser171Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371838C= | CA2307359160 | MC4R | c.512G= (p.Ser171=) | |
| 18 | g.60371838C>G | CA402719656 | MC4R | c.512G>C (p.Ser171Thr) | |
| 18 | g.60371838C>T | CA402719655 | MC4R | c.512G>A (p.Ser171Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371839T>A | CA402719657 | MC4R | c.511A>T (p.Ser171Cys) | |
| 18 | g.60371839T>C | CA8980905 | MC4R | c.511A>G (p.Ser171Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371839T>G | CA402719658 | MC4R | c.511A>C (p.Ser171Arg) | |
| 18 | g.60371839T= | CA2307359161 | MC4R | c.511A= (p.Ser171=) |