| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884821del | CA658653848 | MC2R | c.702del (p.Phe235LeufsTer7) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884818G>A | CA401994319 | MC2R | c.701C>T (p.Pro234Leu) | |
| 18 | g.13884818G>C | CA401994317 | MC2R | c.701C>G (p.Pro234Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884818G= | CA2285919284 | MC2R | c.701C= (p.Pro234=) | |
| 18 | g.13884818G>T | CA401994315 | MC2R | c.701C>A (p.Pro234His) | gnomAD v4 |
| 18 | g.13884819G>A | CA401994321 | MC2R | c.700C>T (p.Pro234Ser) | gnomAD v4 |
| 18 | g.13884819G>C | CA401994323 | MC2R | c.700C>G (p.Pro234Ala) | gnomAD v4 |
| 18 | g.13884819G>T | CA401994325 | MC2R | c.700C>A (p.Pro234Thr) | |
| 18 | g.13884820G>A | CA503248160 | MC2R | c.699C>T (p.Ala233=) | gnomAD v4 |
| 18 | g.13884820G>C | CA503248164 | MC2R | c.699C>G (p.Ala233=) | |
| 18 | g.13884820G>T | CA503248165 | MC2R | c.699C>A (p.Ala233=) | COSMIC |
| 18 | g.13884821G>A | CA8902418 | MC2R | c.698C>T (p.Ala233Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.13884821G>C | CA401994328 | MC2R | c.698C>G (p.Ala233Gly) | dbSNP gnomAD v4 |
| 18 | g.13884821G= | CA2285919285 | MC2R | c.698C= (p.Ala233=) | |
| 18 | g.13884821G>T | CA401994330 | MC2R | c.698C>A (p.Ala233Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884822C>A | CA401994334 | MC2R | c.697G>T (p.Ala233Ser) | |
| 18 | g.13884822C= | CA2285919286 | MC2R | c.697G= (p.Ala233=) | |
| 18 | g.13884822C>G | CA401994332 | MC2R | c.697G>C (p.Ala233Pro) | dbSNP gnomAD v2 |
| 18 | g.13884822C>T | CA8902419 | MC2R | c.697G>A (p.Ala233Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884823C>A | CA401994337 | MC2R | c.696G>T (p.Trp232Cys) | gnomAD v4 |
| 18 | g.13884823C>G | CA401994339 | MC2R | c.696G>C (p.Trp232Cys) | |
| 18 | g.13884823C>T | CA401994340 | MC2R | c.696G>A (p.Trp232Ter) | |
| 18 | g.13884824C>A | CA401994344 | MC2R | c.695G>T (p.Trp232Leu) | |
| 18 | g.13884824C>G | CA401994345 | MC2R | c.695G>C (p.Trp232Ser) | |
| 18 | g.13884824C>T | CA401994346 | MC2R | c.695G>A (p.Trp232Ter) | |
| 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) |