| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.60371408_60371435del | CA2642029294 | MC4R | c.918_945del (p.Ser306ArgfsTer?) | gnomAD v4 |
| 18 | g.60371429T>A | CA402718795 | MC4R | c.921A>T (p.Gln307His) | |
| 18 | g.60371429T>C | CA504305066 | MC4R | c.921A>G (p.Gln307=) | |
| 18 | g.60371429T>G | CA402718796 | MC4R | c.921A>C (p.Gln307His) | |
| 18 | g.60371430T>A | CA402718797 | MC4R | c.920A>T (p.Gln307Leu) | |
| 18 | g.60371430T>C | CA402718799 | MC4R | c.920A>G (p.Gln307Arg) | |
| 18 | g.60371430T>G | CA402718798 | MC4R | c.920A>C (p.Gln307Pro) | |
| 18 | g.60371431G>A | CA8980807 | MC4R | c.919C>T (p.Gln307Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371431G>C | CA402718800 | MC4R | c.919C>G (p.Gln307Glu) | |
| 18 | g.60371431G= | CA2307358951 | MC4R | c.919C= (p.Gln307=) | |
| 18 | g.60371431G>T | CA402718801 | MC4R | c.919C>A (p.Gln307Lys) | |
| 18 | g.60371432A>C | CA402718802 | MC4R | c.918T>G (p.Ser306Arg) | |
| 18 | g.60371432A>G | CA504305070 | MC4R | c.918T>C (p.Ser306=) | |
| 18 | g.60371432A>T | CA402718803 | MC4R | c.918T>A (p.Ser306Arg) | |
| 18 | g.60371433C>A | CA402718804 | MC4R | c.917G>T (p.Ser306Ile) | |
| 18 | g.60371433C= | CA2307358952 | MC4R | c.917G= (p.Ser306=) | |
| 18 | g.60371433C>G | CA402718805 | MC4R | c.917G>C (p.Ser306Thr) | |
| 18 | g.60371433C>T | CA301530008 | MC4R | c.917G>A (p.Ser306Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371434T>A | CA402718806 | MC4R | c.916A>T (p.Ser306Cys) | |
| 18 | g.60371434T>C | CA402718807 | MC4R | c.916A>G (p.Ser306Gly) | |
| 18 | g.60371434T>G | CA402718808 | MC4R | c.916A>C (p.Ser306Arg) | |
| 18 | g.60371435C>A | CA504305073 | MC4R | c.915G>T (p.Arg305=) | |
| 18 | g.60371435C= | CA2307358953 | MC4R | c.915G= (p.Arg305=) | |
| 18 | g.60371435C>G | CA504305074 | MC4R | c.915G>C (p.Arg305=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371435C>T | CA8980808 | MC4R | c.915G>A (p.Arg305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371436C>A | CA8980810 | MC4R | c.914G>T (p.Arg305Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371436C= | CA2307358954 | MC4R | c.914G= (p.Arg305=) | |
| 18 | g.60371436C>G | CA402718809 | MC4R | c.914G>C (p.Arg305Pro) | |
| 18 | g.60371436C>T | CA8980809 | MC4R | c.914G>A (p.Arg305Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.60371437G>A | CA8980811 | MC4R | c.913C>T (p.Arg305Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371437G>C | CA402718810 | MC4R | c.913C>G (p.Arg305Gly) | |
| 18 | g.60371437G= | CA2307358955 | MC4R | c.913C= (p.Arg305=) | |
| 18 | g.60371437G>T | CA504305075 | MC4R | c.913C>A (p.Arg305=) | |
| 18 | g.60371438G>A | CA504305077 | MC4R | c.912C>T (p.Leu304=) | gnomAD v4 |
| 18 | g.60371438G>C | CA504305079 | MC4R | c.912C>G (p.Leu304=) | |
| 18 | g.60371438G>T | CA504305081 | MC4R | c.912C>A (p.Leu304=) | |
| 18 | g.60371439A>C | CA402718811 | MC4R | c.911T>G (p.Leu304Arg) | |
| 18 | g.60371439A>G | CA402718812 | MC4R | c.911T>C (p.Leu304Pro) | |
| 18 | g.60371439A>T | CA402718813 | MC4R | c.911T>A (p.Leu304His) | |
| 18 | g.60371440G>A | CA8980812 | MC4R | c.910C>T (p.Leu304Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371440G>C | CA402718814 | MC4R | c.910C>G (p.Leu304Val) | |
| 18 | g.60371440G= | CA2307358956 | MC4R | c.910C= (p.Leu304=) | |
| 18 | g.60371440G>T | CA402718815 | MC4R | c.910C>A (p.Leu304Ile) | |
| 18 | g.60371441T>A | CA504305085 | MC4R | c.909A>T (p.Ala303=) | |
| 18 | g.60371441T>C | CA504305086 | MC4R | c.909A>G (p.Ala303=) | gnomAD v4 COSMIC |
| 18 | g.60371441T>G | CA504305087 | MC4R | c.909A>C (p.Ala303=) | gnomAD v4 |
| 18 | g.60371442G>A | CA402718816 | MC4R | c.908C>T (p.Ala303Val) | |
| 18 | g.60371442G>C | CA402718817 | MC4R | c.908C>G (p.Ala303Gly) | |
| 18 | g.60371442G>T | CA402718818 | MC4R | c.908C>A (p.Ala303Glu) | |
| 18 | g.60371443C>A | CA402718819 | MC4R | c.907G>T (p.Ala303Ser) |