Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13884832_13884839dup | CA628623250 | MC2R | c.681_688dup (p.Phe230SerfsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884838G>A | CA503248209 | MC2R | c.681C>T (p.Val227=) | |
18 | g.13884838G>C | CA503248207 | MC2R | c.681C>G (p.Val227=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884838G= | CA2285919290 | MC2R | c.681C= (p.Val227=) | |
18 | g.13884838G>T | CA503248208 | MC2R | c.681C>A (p.Val227=) | |
18 | g.13884839A>C | CA401994415 | MC2R | c.680T>G (p.Val227Gly) | |
18 | g.13884839A>G | CA401994417 | MC2R | c.680T>C (p.Val227Ala) | |
18 | g.13884839A>T | CA401994418 | MC2R | c.680T>A (p.Val227Asp) | |
18 | g.13884840C>A | CA8902421 | MC2R | c.679G>T (p.Val227Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884840C= | CA2285919291 | MC2R | c.679G= (p.Val227=) | |
18 | g.13884840C>G | CA8902422 | MC2R | c.679G>C (p.Val227Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884840C>T | CA401994423 | MC2R | c.679G>A (p.Val227Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884841C>A | CA503248211 | MC2R | c.678G>T (p.Gly226=) | |
18 | g.13884841C= | CA2285919292 | MC2R | c.678G= (p.Gly226=) | |
18 | g.13884841C>G | CA503248212 | MC2R | c.678G>C (p.Gly226=) | dbSNP gnomAD v4 |
18 | g.13884841C>T | CA503248214 | MC2R | c.678G>A (p.Gly226=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884842C>A | CA401994425 | MC2R | c.677G>T (p.Gly226Val) | COSMIC |
18 | g.13884842C>G | CA401994427 | MC2R | c.677G>C (p.Gly226Ala) | |
18 | g.13884842C>T | CA401994428 | MC2R | c.677G>A (p.Gly226Glu) | |
18 | g.13884843C>A | CA401994430 | MC2R | c.676G>T (p.Gly226Trp) | |
18 | g.13884843C= | CA2285919293 | MC2R | c.676G= (p.Gly226=) | |
18 | g.13884843C>G | CA401994431 | MC2R | c.676G>C (p.Gly226Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884843C>T | CA8902423 | MC2R | c.676G>A (p.Gly226Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884844G>A | CA503248220 | MC2R | c.675C>T (p.Leu225=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884844G>C | CA503248219 | MC2R | c.675C>G (p.Leu225=) | |
18 | g.13884844G= | CA2285919294 | MC2R | c.675C= (p.Leu225=) | |
18 | g.13884844G>T | CA503248222 | MC2R | c.675C>A (p.Leu225=) | gnomAD v4 |
18 | g.13884845A= | CA2285919295 | MC2R | c.674T= (p.Leu225=) | |
18 | g.13884845A>C | CA401994434 | MC2R | c.674T>G (p.Leu225Arg) | ClinVar dbSNP |
18 | g.13884845A>G | CA401994437 | MC2R | c.674T>C (p.Leu225Pro) | |
18 | g.13884845A>T | CA401994435 | MC2R | c.674T>A (p.Leu225His) | |
18 | g.13884846G>A | CA401994440 | MC2R | c.673C>T (p.Leu225Phe) | gnomAD v4 |
18 | g.13884846G>C | CA401994444 | MC2R | c.673C>G (p.Leu225Val) | |
18 | g.13884846G>T | CA401994442 | MC2R | c.673C>A (p.Leu225Ile) | |
18 | g.13884847C>A | CA503248226 | MC2R | c.672G>T (p.Leu224=) | gnomAD v4 |
18 | g.13884847C>G | CA503248227 | MC2R | c.672G>C (p.Leu224=) | |
18 | g.13884847C>T | CA503248228 | MC2R | c.672G>A (p.Leu224=) | |
18 | g.13884848A= | CA2285919296 | MC2R | c.671T= (p.Leu224=) | |
18 | g.13884848A>C | CA401994446 | MC2R | c.671T>G (p.Leu224Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884848A>G | CA401994448 | MC2R | c.671T>C (p.Leu224Pro) | |
18 | g.13884848A>T | CA401994450 | MC2R | c.671T>A (p.Leu224Gln) | COSMIC |
18 | g.13884849G>A | CA503248230 | MC2R | c.670C>T (p.Leu224=) | |
18 | g.13884849G>C | CA401994452 | MC2R | c.670C>G (p.Leu224Val) | |
18 | g.13884849G>T | CA401994454 | MC2R | c.670C>A (p.Leu224Met) | COSMIC |
18 | g.13884850G>A | CA503248233 | MC2R | c.669C>T (p.Ile223=) | |
18 | g.13884850G>C | CA401994456 | MC2R | c.669C>G (p.Ile223Met) | |
18 | g.13884850G>T | CA503248235 | MC2R | c.669C>A (p.Ile223=) | |
18 | g.13884851A>C | CA401994459 | MC2R | c.668T>G (p.Ile223Ser) | |
18 | g.13884851A>G | CA401994460 | MC2R | c.668T>C (p.Ile223Thr) | |
18 | g.13884851A>T | CA401994461 | MC2R | c.668T>A (p.Ile223Asn) |