| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.60371694G>A | CA210726 | MC4R | c.656C>T (p.Ala219Val) | ClinVar dbSNP gnomAD v2 |
| 18 | g.60371694G>C | CA402719343 | MC4R | c.656C>G (p.Ala219Gly) | |
| 18 | g.60371694G= | CA2307359090 | MC4R | c.656C= (p.Ala219=) | |
| 18 | g.60371694G>T | CA402719344 | MC4R | c.656C>A (p.Ala219Asp) | |
| 18 | g.60371695C>A | CA402719345 | MC4R | c.655G>T (p.Ala219Ser) | ClinVar dbSNP gnomAD v4 |
| 18 | g.60371695C= | CA2307359091 | MC4R | c.655G= (p.Ala219=) | |
| 18 | g.60371695C>G | CA402719346 | MC4R | c.655G>C (p.Ala219Pro) | |
| 18 | g.60371695C>T | CA402719347 | MC4R | c.655G>A (p.Ala219Thr) | dbSNP gnomAD v4 COSMIC |
| 18 | g.60371696C>A | CA402719350 | MC4R | c.654G>T (p.Met218Ile) | COSMIC |
| 18 | g.60371696C= | CA2307359092 | MC4R | c.654G= (p.Met218=) | |
| 18 | g.60371696C>G | CA402719349 | MC4R | c.654G>C (p.Met218Ile) | |
| 18 | g.60371696C>T | CA402719348 | MC4R | c.654G>A (p.Met218Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371697A= | CA2307359093 | MC4R | c.653T= (p.Met218=) | |
| 18 | g.60371697A>C | CA402719351 | MC4R | c.653T>G (p.Met218Arg) | |
| 18 | g.60371697A>G | CA8980872 | MC4R | c.653T>C (p.Met218Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371697A>T | CA402719352 | MC4R | c.653T>A (p.Met218Lys) | dbSNP gnomAD v4 |
| 18 | g.60371698T>A | CA402719353 | MC4R | c.652A>T (p.Met218Leu) | |
| 18 | g.60371698T>C | CA402719354 | MC4R | c.652A>G (p.Met218Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371698T>G | CA402719355 | MC4R | c.652A>C (p.Met218Leu) | |
| 18 | g.60371698T= | CA2307359094 | MC4R | c.652A= (p.Met218=) | |
| 18 | g.60371699C>A | CA504305492 | MC4R | c.651G>T (p.Leu217=) | |
| 18 | g.60371699C>G | CA504305493 | MC4R | c.651G>C (p.Leu217=) | |
| 18 | g.60371699C>T | CA504305494 | MC4R | c.651G>A (p.Leu217=) | |
| 18 | g.60371700A>C | CA402719356 | MC4R | c.650T>G (p.Leu217Arg) | |
| 18 | g.60371700A>G | CA402719357 | MC4R | c.650T>C (p.Leu217Pro) | gnomAD v4 |
| 18 | g.60371700A>T | CA402719358 | MC4R | c.650T>A (p.Leu217Gln) | |
| 18 | g.60371701G>A | CA8980873 | MC4R | c.649C>T (p.Leu217=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371701G>C | CA402719359 | MC4R | c.649C>G (p.Leu217Val) | gnomAD v4 |
| 18 | g.60371701G= | CA2307359095 | MC4R | c.649C= (p.Leu217=) | |
| 18 | g.60371701G>T | CA402719360 | MC4R | c.649C>A (p.Leu217Met) | |
| 18 | g.60371702del | CA2543124849 | MC4R | c.649del (p.Leu217Ter) | |
| 18 | g.60371702G>A | CA504305495 | MC4R | c.648C>T (p.Phe216=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.60371702G>C | CA402719361 | MC4R | c.648C>G (p.Phe216Leu) | |
| 18 | g.60371702G= | CA2307359096 | MC4R | c.648C= (p.Phe216=) | |
| 18 | g.60371702G>T | CA402719362 | MC4R | c.648C>A (p.Phe216Leu) | gnomAD v4 |
| 18 | g.60371703A>C | CA402719364 | MC4R | c.647T>G (p.Phe216Cys) | |
| 18 | g.60371703A>G | CA402719365 | MC4R | c.647T>C (p.Phe216Ser) | |
| 18 | g.60371703A>T | CA402719363 | MC4R | c.647T>A (p.Phe216Tyr) | |
| 18 | g.60371704A>C | CA402719366 | MC4R | c.646T>G (p.Phe216Val) | |
| 18 | g.60371704A>G | CA402719367 | MC4R | c.646T>C (p.Phe216Leu) | gnomAD v4 |
| 18 | g.60371704A>T | CA402719368 | MC4R | c.646T>A (p.Phe216Ile) | |
| 18 | g.60371704_60371705insTC | CA2570014618 | MC4R | c.645_646insGA (p.Phe216AspfsTer3) | |
| 18 | g.60371705C>A | CA402719369 | MC4R | c.645G>T (p.Met215Ile) | |
| 18 | g.60371705C= | CA2307359097 | MC4R | c.645G= (p.Met215=) | |
| 18 | g.60371705C>G | CA402719370 | MC4R | c.645G>C (p.Met215Ile) | |
| 18 | g.60371705C>T | CA8980874 | MC4R | c.645G>A (p.Met215Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371705_60371707del | CA2695227731 | MC4R | c.643_645del (p.Met215del) | |
| 18 | g.60371706A= | CA2307359098 | MC4R | c.644T= (p.Met215=) | |
| 18 | g.60371706A>C | CA8980875 | MC4R | c.644T>G (p.Met215Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371706A>G | CA8980876 | MC4R | c.644T>C (p.Met215Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |