Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60371746_60371757del | CA2695227733 | MC4R | c.601_612del (p.Phe201_Met204del) | |
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) | |
18 | g.60371756G>A | CA8980885 | MC4R | c.594C>T (p.Ile198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371756G>C | CA402719479 | MC4R | c.594C>G (p.Ile198Met) | |
18 | g.60371756G= | CA2307359116 | MC4R | c.594C= (p.Ile198=) | |
18 | g.60371756G>T | CA504305561 | MC4R | c.594C>A (p.Ile198=) | |
18 | g.60371757A= | CA2307359117 | MC4R | c.593T= (p.Ile198=) | |
18 | g.60371757A>C | CA402719480 | MC4R | c.593T>G (p.Ile198Ser) | |
18 | g.60371757A>G | CA8980886 | MC4R | c.593T>C (p.Ile198Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371757A>T | CA301530029 | MC4R | c.593T>A (p.Ile198Asn) | dbSNP |
18 | g.60371758T>A | CA402719481 | MC4R | c.592A>T (p.Ile198Phe) | |
18 | g.60371758T>C | CA402719482 | MC4R | c.592A>G (p.Ile198Val) | dbSNP gnomAD v4 |
18 | g.60371758T>G | CA402719483 | MC4R | c.592A>C (p.Ile198Leu) | |
18 | g.60371758T= | CA2307359118 | MC4R | c.592A= (p.Ile198=) | |
18 | g.60371759G>A | CA8980887 | MC4R | c.591C>T (p.Leu197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371759G>C | CA504305563 | MC4R | c.591C>G (p.Leu197=) | |
18 | g.60371759G= | CA2307359119 | MC4R | c.591C= (p.Leu197=) | |
18 | g.60371759G>T | CA504305564 | MC4R | c.591C>A (p.Leu197=) | |
18 | g.60371760A>C | CA402719484 | MC4R | c.590T>G (p.Leu197Arg) | |
18 | g.60371760A>G | CA402719485 | MC4R | c.590T>C (p.Leu197Pro) | |
18 | g.60371760A>T | CA402719486 | MC4R | c.590T>A (p.Leu197His) | |
18 | g.60371761G>A | CA402719489 | MC4R | c.589C>T (p.Leu197Phe) | gnomAD v4 |
18 | g.60371761G>C | CA402719487 | MC4R | c.589C>G (p.Leu197Val) | |
18 | g.60371761G>T | CA402719488 | MC4R | c.589C>A (p.Leu197Ile) | |
18 | g.60371762G>A | CA504305566 | MC4R | c.588C>T (p.Cys196=) | |
18 | g.60371762G>C | CA402719490 | MC4R | c.588C>G (p.Cys196Trp) | |
18 | g.60371762G>T | CA402719491 | MC4R | c.588C>A (p.Cys196Ter) | COSMIC |
18 | g.60371763C>A | CA402719492 | MC4R | c.587G>T (p.Cys196Phe) | |
18 | g.60371763C= | CA2307359120 | MC4R | c.587G= (p.Cys196=) | |
18 | g.60371763C>G | CA402719493 | MC4R | c.587G>C (p.Cys196Ser) | |
18 | g.60371763C>T | CA402719494 | MC4R | c.587G>A (p.Cys196Tyr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.60371764A>C | CA402719495 | MC4R | c.586T>G (p.Cys196Gly) | |
18 | g.60371764A>G | CA402719496 | MC4R | c.586T>C (p.Cys196Arg) | |
18 | g.60371764A>T | CA402719497 | MC4R | c.586T>A (p.Cys196Ser) | |
18 | g.60371765G>A | CA504305569 | MC4R | c.585C>T (p.Ile195=) | |
18 | g.60371765G>C | CA402719498 | MC4R | c.585C>G (p.Ile195Met) | ClinVar dbSNP |
18 | g.60371765G= | CA2307359121 | MC4R | c.585C= (p.Ile195=) | |
18 | g.60371765G>T | CA504305571 | MC4R | c.585C>A (p.Ile195=) | |
18 | g.60371766A= | CA2307359122 | MC4R | c.584T= (p.Ile195=) | |
18 | g.60371766A>C | CA8980888 | MC4R | c.584T>G (p.Ile195Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60371766A>G | CA301530030 | MC4R | c.584T>C (p.Ile195Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.60371766A>T | CA402719499 | MC4R | c.584T>A (p.Ile195Asn) | |
18 | g.60371767T>A | CA402719501 | MC4R | c.583A>T (p.Ile195Phe) | |
18 | g.60371767T>C | CA8980889 | MC4R | c.583A>G (p.Ile195Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60371767T>G | CA402719500 | MC4R | c.583A>C (p.Ile195Leu) | |
18 | g.60371767T= | CA2307359123 | MC4R | c.583A= (p.Ile195=) | |
18 | g.60371768G>A | CA504305573 | MC4R | c.582C>T (p.Ile194=) | |
18 | g.60371768G>C | CA402719502 | MC4R | c.582C>G (p.Ile194Met) |