Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60371737_60371748dup | CA2642029298 | MC4R | c.603_614dup (p.Leu205_Ala206insPheThrMetLeu) | gnomAD v4 |
18 | g.60371746_60371757del | CA2695227733 | MC4R | c.601_612del (p.Phe201_Met204del) | |
18 | g.60371742G>A | CA402719445 | MC4R | c.608C>T (p.Thr203Ile) | |
18 | g.60371742G>C | CA402719447 | MC4R | c.608C>G (p.Thr203Ser) | |
18 | g.60371742G>T | CA402719446 | MC4R | c.608C>A (p.Thr203Asn) | |
18 | g.60371743T>A | CA402719448 | MC4R | c.607A>T (p.Thr203Ser) | |
18 | g.60371743T>C | CA402719450 | MC4R | c.607A>G (p.Thr203Ala) | |
18 | g.60371743T>G | CA402719449 | MC4R | c.607A>C (p.Thr203Pro) | COSMIC |
18 | g.60371744G>A | CA504305552 | MC4R | c.606C>T (p.Phe202=) | |
18 | g.60371744G>C | CA402719451 | MC4R | c.606C>G (p.Phe202Leu) | |
18 | g.60371744G= | CA2307359112 | MC4R | c.606C= (p.Phe202=) | |
18 | g.60371744G>T | CA214142 | MC4R | c.606C>A (p.Phe202Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371745A>C | CA402719452 | MC4R | c.605T>G (p.Phe202Cys) | |
18 | g.60371745A>G | CA402719454 | MC4R | c.605T>C (p.Phe202Ser) | |
18 | g.60371745A>T | CA402719453 | MC4R | c.605T>A (p.Phe202Tyr) | |
18 | g.60371746A>C | CA402719455 | MC4R | c.604T>G (p.Phe202Val) | |
18 | g.60371746A>G | CA402719456 | MC4R | c.604T>C (p.Phe202Leu) | |
18 | g.60371746A>T | CA402719457 | MC4R | c.604T>A (p.Phe202Ile) | |
18 | g.60371747G>A | CA504305556 | MC4R | c.603C>T (p.Phe201=) | dbSNP |
18 | g.60371747G>C | CA402719458 | MC4R | c.603C>G (p.Phe201Leu) | |
18 | g.60371747G= | CA2307359113 | MC4R | c.603C= (p.Phe201=) | |
18 | g.60371747G>T | CA8980883 | MC4R | c.603C>A (p.Phe201Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371748A>C | CA402719459 | MC4R | c.602T>G (p.Phe201Cys) | |
18 | g.60371748A>G | CA402719460 | MC4R | c.602T>C (p.Phe201Ser) | |
18 | g.60371748A>T | CA402719461 | MC4R | c.602T>A (p.Phe201Tyr) | |
18 | g.60371749A>C | CA402719462 | MC4R | c.601T>G (p.Phe201Val) | |
18 | g.60371749A>G | CA402719463 | MC4R | c.601T>C (p.Phe201Leu) | |
18 | g.60371749A>T | CA402719464 | MC4R | c.601T>A (p.Phe201Ile) | |
18 | g.60371750C>A | CA402719465 | MC4R | c.600G>T (p.Met200Ile) | |
18 | g.60371750C>G | CA402719467 | MC4R | c.600G>C (p.Met200Ile) | |
18 | g.60371750C>T | CA402719466 | MC4R | c.600G>A (p.Met200Ile) | |
18 | g.60371750_60371752del | CA2695227734 | MC4R | c.598_600del (p.Met200del) | |
18 | g.60371751A= | CA2307359114 | MC4R | c.599T= (p.Met200=) | |
18 | g.60371751A>C | CA402719468 | MC4R | c.599T>G (p.Met200Arg) | |
18 | g.60371751A>G | CA402719469 | MC4R | c.599T>C (p.Met200Thr) | dbSNP gnomAD v4 |
18 | g.60371751A>T | CA402719470 | MC4R | c.599T>A (p.Met200Lys) | |
18 | g.60371751_60371753del | CA2642029299 | MC4R | c.597_599del (p.Met200del) | gnomAD v4 |
18 | g.60371752T>A | CA402719471 | MC4R | c.598A>T (p.Met200Leu) | |
18 | g.60371752T>C | CA8980884 | MC4R | c.598A>G (p.Met200Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371752T>G | CA402719472 | MC4R | c.598A>C (p.Met200Leu) | |
18 | g.60371752T= | CA2307359115 | MC4R | c.598A= (p.Met200=) | |
18 | g.60371753G>A | CA504305560 | MC4R | c.597C>T (p.Thr199=) | |
18 | g.60371753G>C | CA504305558 | MC4R | c.597C>G (p.Thr199=) | |
18 | g.60371753G>T | CA504305559 | MC4R | c.597C>A (p.Thr199=) | |
18 | g.60371754G>A | CA402719473 | MC4R | c.596C>T (p.Thr199Ile) | |
18 | g.60371754G>C | CA402719474 | MC4R | c.596C>G (p.Thr199Ser) | |
18 | g.60371754G>T | CA402719475 | MC4R | c.596C>A (p.Thr199Asn) | |
18 | g.60371755T>A | CA402719477 | MC4R | c.595A>T (p.Thr199Ser) | |
18 | g.60371755T>C | CA402719478 | MC4R | c.595A>G (p.Thr199Ala) | |
18 | g.60371755T>G | CA402719476 | MC4R | c.595A>C (p.Thr199Pro) |