Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.13884825A>C | CA401994351 | MC2R | c.694T>G (p.Trp232Gly) | |
18 | g.13884825A>G | CA401994348 | MC2R | c.694T>C (p.Trp232Arg) | |
18 | g.13884825A>T | CA401994350 | MC2R | c.694T>A (p.Trp232Arg) | |
18 | g.13884826G>A | CA503248182 | MC2R | c.693C>T (p.Cys231=) | gnomAD v4 |
18 | g.13884826G>C | CA401994354 | MC2R | c.693C>G (p.Cys231Trp) | |
18 | g.13884826G>T | CA401994356 | MC2R | c.693C>A (p.Cys231Ter) | |
18 | g.13884827C>A | CA401994359 | MC2R | c.692G>T (p.Cys231Phe) | |
18 | g.13884827C>G | CA401994360 | MC2R | c.692G>C (p.Cys231Ser) | gnomAD v4 |
18 | g.13884827C>T | CA401994362 | MC2R | c.692G>A (p.Cys231Tyr) | |
18 | g.13884828A>C | CA401994364 | MC2R | c.691T>G (p.Cys231Gly) | |
18 | g.13884828A>G | CA401994365 | MC2R | c.691T>C (p.Cys231Arg) | |
18 | g.13884828A>T | CA401994366 | MC2R | c.691T>A (p.Cys231Ser) | |
18 | g.13884829G>A | CA503248190 | MC2R | c.690C>T (p.Phe230=) | COSMIC |
18 | g.13884829G>C | CA401994369 | MC2R | c.690C>G (p.Phe230Leu) | |
18 | g.13884829G>T | CA401994370 | MC2R | c.690C>A (p.Phe230Leu) | |
18 | g.13884830A= | CA2285919287 | MC2R | c.689T= (p.Phe230=) | |
18 | g.13884830A>C | CA401994372 | MC2R | c.689T>G (p.Phe230Cys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884830A>G | CA401994374 | MC2R | c.689T>C (p.Phe230Ser) | |
18 | g.13884830A>T | CA401994376 | MC2R | c.689T>A (p.Phe230Tyr) | |
18 | g.13884831A>C | CA401994378 | MC2R | c.688T>G (p.Phe230Val) | |
18 | g.13884831A>G | CA401994382 | MC2R | c.688T>C (p.Phe230Leu) | |
18 | g.13884831A>T | CA401994380 | MC2R | c.688T>A (p.Phe230Ile) | |
18 | g.13884832_13884839dup | CA628623250 | MC2R | c.681_688dup (p.Phe230SerfsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884832G>A | CA296828643 | MC2R | c.687C>T (p.Ile229=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884832G>C | CA401994385 | MC2R | c.687C>G (p.Ile229Met) | |
18 | g.13884832G= | CA2285919288 | MC2R | c.687C= (p.Ile229=) | |
18 | g.13884832G>T | CA503248195 | MC2R | c.687C>A (p.Ile229=) | |
18 | g.13884833A= | CA2285919289 | MC2R | c.686T= (p.Ile229=) | |
18 | g.13884833A>C | CA401994387 | MC2R | c.686T>G (p.Ile229Ser) | |
18 | g.13884833A>G | CA8902420 | MC2R | c.686T>C (p.Ile229Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884833A>T | CA401994391 | MC2R | c.686T>A (p.Ile229Asn) | |
18 | g.13884834T>A | CA401994393 | MC2R | c.685A>T (p.Ile229Phe) | |
18 | g.13884834T>C | CA401994395 | MC2R | c.685A>G (p.Ile229Val) | |
18 | g.13884834T>G | CA401994397 | MC2R | c.685A>C (p.Ile229Leu) | gnomAD v4 |
18 | g.13884835G>A | CA503248201 | MC2R | c.684C>T (p.Phe228=) | |
18 | g.13884835G>C | CA401994399 | MC2R | c.684C>G (p.Phe228Leu) | |
18 | g.13884835G>T | CA401994401 | MC2R | c.684C>A (p.Phe228Leu) | |
18 | g.13884836A>C | CA401994404 | MC2R | c.683T>G (p.Phe228Cys) | |
18 | g.13884836A>G | CA401994406 | MC2R | c.683T>C (p.Phe228Ser) | |
18 | g.13884836A>T | CA401994407 | MC2R | c.683T>A (p.Phe228Tyr) | |
18 | g.13884837A>C | CA401994412 | MC2R | c.682T>G (p.Phe228Val) | |
18 | g.13884837A>G | CA401994410 | MC2R | c.682T>C (p.Phe228Leu) | |
18 | g.13884837A>T | CA401994409 | MC2R | c.682T>A (p.Phe228Ile) | |
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) |