Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.60372187C>A | CA8980971 | MC4R | c.163G>T (p.Gly55Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.60372187C= | CA2307359334 | MC4R | c.163G= (p.Gly55=) | |
18 | g.60372187C>G | CA402720402 | MC4R | c.163G>C (p.Gly55Arg) | |
18 | g.60372187C>T | CA402720403 | MC4R | c.163G>A (p.Gly55Ser) | dbSNP |
18 | g.60372188C>A | CA504305505 | MC4R | c.162G>T (p.Leu54=) | |
18 | g.60372188C>G | CA504305507 | MC4R | c.162G>C (p.Leu54=) | gnomAD v4 |
18 | g.60372188C>T | CA504305509 | MC4R | c.162G>A (p.Leu54=) | |
18 | g.60372189A= | CA2307359335 | MC4R | c.161T= (p.Leu54=) | |
18 | g.60372189A>C | CA402720404 | MC4R | c.161T>G (p.Leu54Arg) | |
18 | g.60372189A>G | CA8980972 | MC4R | c.161T>C (p.Leu54Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60372189A>T | CA402720405 | MC4R | c.161T>A (p.Leu54Gln) | |
18 | g.60372190G>A | CA504305511 | MC4R | c.160C>T (p.Leu54=) | |
18 | g.60372190G>C | CA402720406 | MC4R | c.160C>G (p.Leu54Val) | |
18 | g.60372190G>T | CA402720407 | MC4R | c.160C>A (p.Leu54Met) | |
18 | g.60372191A>C | CA504305512 | MC4R | c.159T>G (p.Thr53=) | |
18 | g.60372191A>G | CA504305513 | MC4R | c.159T>C (p.Thr53=) | |
18 | g.60372191A>T | CA504305515 | MC4R | c.159T>A (p.Thr53=) | |
18 | g.60372192G>A | CA8980973 | MC4R | c.158C>T (p.Thr53Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.60372192G>C | CA402720408 | MC4R | c.158C>G (p.Thr53Ser) | |
18 | g.60372192G= | CA2307359336 | MC4R | c.158C= (p.Thr53=) | |
18 | g.60372192G>T | CA402720409 | MC4R | c.158C>A (p.Thr53Asn) | |
18 | g.60372193T>A | CA402720412 | MC4R | c.157A>T (p.Thr53Ser) | |
18 | g.60372193T>C | CA402720410 | MC4R | c.157A>G (p.Thr53Ala) | |
18 | g.60372193T>G | CA402720411 | MC4R | c.157A>C (p.Thr53Pro) | |
18 | g.60372194C>A | CA504305518 | MC4R | c.156G>T (p.Val52=) | |
18 | g.60372194C>G | CA504305519 | MC4R | c.156G>C (p.Val52=) | |
18 | g.60372194C>T | CA504305520 | MC4R | c.156G>A (p.Val52=) | gnomAD v4 |
18 | g.60372195A= | CA2307359337 | MC4R | c.155T= (p.Val52=) | |
18 | g.60372195A>C | CA402720413 | MC4R | c.155T>G (p.Val52Gly) | |
18 | g.60372195A>G | CA402720415 | MC4R | c.155T>C (p.Val52Ala) | dbSNP |
18 | g.60372195A>T | CA402720414 | MC4R | c.155T>A (p.Val52Glu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.60372196C>A | CA402720416 | MC4R | c.154G>T (p.Val52Leu) | |
18 | g.60372196C>G | CA402720417 | MC4R | c.154G>C (p.Val52Leu) | gnomAD v4 |
18 | g.60372196C>T | CA402720418 | MC4R | c.154G>A (p.Val52Met) | gnomAD v4 |
18 | g.60372197A>C | CA402720419 | MC4R | c.153T>G (p.Phe51Leu) | |
18 | g.60372197A>G | CA504305524 | MC4R | c.153T>C (p.Phe51=) | |
18 | g.60372197A>T | CA402720420 | MC4R | c.153T>A (p.Phe51Leu) | |
18 | g.60372198A>C | CA402720421 | MC4R | c.152T>G (p.Phe51Cys) | gnomAD v4 |
18 | g.60372198A>G | CA402720422 | MC4R | c.152T>C (p.Phe51Ser) | |
18 | g.60372198A>T | CA402720423 | MC4R | c.152T>A (p.Phe51Tyr) | |
18 | g.60372199A= | CA2307359338 | MC4R | c.151T= (p.Phe51=) | |
18 | g.60372199A>C | CA402720424 | MC4R | c.151T>G (p.Phe51Val) | |
18 | g.60372199A>G | CA301530055 | MC4R | c.151T>C (p.Phe51Leu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.60372199A>T | CA402720425 | MC4R | c.151T>A (p.Phe51Ile) | |
18 | g.60372200C>A | CA504305525 | MC4R | c.150G>T (p.Val50=) | |
18 | g.60372200C>G | CA504305526 | MC4R | c.150G>C (p.Val50=) | |
18 | g.60372200C>T | CA504305527 | MC4R | c.150G>A (p.Val50=) | |
18 | g.60372201A>C | CA402720428 | MC4R | c.149T>G (p.Val50Gly) | |
18 | g.60372201A>G | CA402720426 | MC4R | c.149T>C (p.Val50Ala) | |
18 | g.60372201A>T | CA402720427 | MC4R | c.149T>A (p.Val50Glu) |