Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13885161T>A | CA401995411 | MC2R | c.358A>T (p.Ser120Cys) | |
18 | g.13885161T>C | CA401995412 | MC2R | c.358A>G (p.Ser120Gly) | |
18 | g.13885161T>G | CA401995413 | MC2R | c.358A>C (p.Ser120Arg) | |
18 | g.13885161_13885162delinsTG | CA2285919452 | MC2R | c.357_358delinsCA (p.Phe119=) | |
18 | g.13885162del | CA503248471 | MC2R | c.357del (p.Phe119LeufsTer5) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885162G>A | CA503248470 | MC2R | c.357C>T (p.Phe119=) | |
18 | g.13885162G>C | CA401995414 | MC2R | c.357C>G (p.Phe119Leu) | |
18 | g.13885162G>T | CA401995415 | MC2R | c.357C>A (p.Phe119Leu) | |
18 | g.13885163A>C | CA401995416 | MC2R | c.356T>G (p.Phe119Cys) | |
18 | g.13885163A>G | CA401995418 | MC2R | c.356T>C (p.Phe119Ser) | |
18 | g.13885163A>T | CA401995417 | MC2R | c.356T>A (p.Phe119Tyr) | |
18 | g.13885164A>C | CA401995419 | MC2R | c.355T>G (p.Phe119Val) | |
18 | g.13885164A>G | CA401995420 | MC2R | c.355T>C (p.Phe119Leu) | |
18 | g.13885164A>T | CA401995421 | MC2R | c.355T>A (p.Phe119Ile) | |
18 | g.13885165G>A | CA503248476 | MC2R | c.354C>T (p.Ile118=) | |
18 | g.13885165G>C | CA401995422 | MC2R | c.354C>G (p.Ile118Met) | COSMIC |
18 | g.13885165G>T | CA503248478 | MC2R | c.354C>A (p.Ile118=) | gnomAD v4 |
18 | g.13885166A>C | CA401995423 | MC2R | c.353T>G (p.Ile118Ser) | |
18 | g.13885166A>G | CA401995425 | MC2R | c.353T>C (p.Ile118Thr) | gnomAD v4 |
18 | g.13885166A>T | CA401995424 | MC2R | c.353T>A (p.Ile118Asn) | |
18 | g.13885167T>A | CA401995426 | MC2R | c.352A>T (p.Ile118Phe) | |
18 | g.13885167T>C | CA8902504 | MC2R | c.352A>G (p.Ile118Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885167T>G | CA401995427 | MC2R | c.352A>C (p.Ile118Leu) | |
18 | g.13885167T= | CA2285919453 | MC2R | c.352A= (p.Ile118=) | |
18 | g.13885168G>A | CA503248482 | MC2R | c.351C>T (p.Ser117=) | dbSNP |
18 | g.13885168G>C | CA503248484 | MC2R | c.351C>G (p.Ser117=) | |
18 | g.13885168G= | CA2285919454 | MC2R | c.351C= (p.Ser117=) | |
18 | g.13885168G>T | CA503248485 | MC2R | c.351C>A (p.Ser117=) | |
18 | g.13885169G>A | CA401995428 | MC2R | c.350C>T (p.Ser117Phe) | |
18 | g.13885169G>C | CA401995429 | MC2R | c.350C>G (p.Ser117Cys) | |
18 | g.13885169G>T | CA401995430 | MC2R | c.350C>A (p.Ser117Tyr) | |
18 | g.13885170A>C | CA401995431 | MC2R | c.349T>G (p.Ser117Ala) | |
18 | g.13885170A>G | CA401995432 | MC2R | c.349T>C (p.Ser117Pro) | ClinVar |
18 | g.13885170A>T | CA401995433 | MC2R | c.349T>A (p.Ser117Thr) | |
18 | g.13885171G>A | CA503248492 | MC2R | c.348C>T (p.Gly116=) | gnomAD v4 |
18 | g.13885171G>C | CA503248490 | MC2R | c.348C>G (p.Gly116=) | |
18 | g.13885171G>T | CA503248489 | MC2R | c.348C>A (p.Gly116=) | |
18 | g.13885172C>A | CA401995434 | MC2R | c.347G>T (p.Gly116Val) | |
18 | g.13885172C>G | CA401995435 | MC2R | c.347G>C (p.Gly116Ala) | gnomAD v4 |
18 | g.13885172C>T | CA401995436 | MC2R | c.347G>A (p.Gly116Asp) | |
18 | g.13885173C>A | CA401995437 | MC2R | c.346G>T (p.Gly116Cys) | |
18 | g.13885173C= | CA2285919455 | MC2R | c.346G= (p.Gly116=) | |
18 | g.13885173C>G | CA401995439 | MC2R | c.346G>C (p.Gly116Arg) | |
18 | g.13885173C>T | CA401995438 | MC2R | c.346G>A (p.Gly116Ser) | dbSNP |
18 | g.13885174A>C | CA503248496 | MC2R | c.345T>G (p.Leu115=) | |
18 | g.13885174A>G | CA503248497 | MC2R | c.345T>C (p.Leu115=) | |
18 | g.13885174A>T | CA503248499 | MC2R | c.345T>A (p.Leu115=) | |
18 | g.13885175A>C | CA401995440 | MC2R | c.344T>G (p.Leu115Arg) | |
18 | g.13885175A>G | CA401995442 | MC2R | c.344T>C (p.Leu115Pro) | |
18 | g.13885175A>T | CA401995441 | MC2R | c.344T>A (p.Leu115His) | gnomAD v4 |