UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 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) | |
| 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) | |
| 18 | g.13884852T>A | CA401994465 | MC2R | c.667A>T (p.Ile223Phe) | |
| 18 | g.13884852T>C | CA401994466 | MC2R | c.667A>G (p.Ile223Val) | |
| 18 | g.13884852T>G | CA401994467 | MC2R | c.667A>C (p.Ile223Leu) | |
| 18 | g.13884853G>A | CA503248238 | MC2R | c.666C>T (p.Thr222=) | |
| 18 | g.13884853G>C | CA503248240 | MC2R | c.666C>G (p.Thr222=) | ClinVar dbSNP |
| 18 | g.13884853G= | CA2285919297 | MC2R | c.666C= (p.Thr222=) | |
| 18 | g.13884853G>T | CA503248243 | MC2R | c.666C>A (p.Thr222=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884854G>A | CA401994469 | MC2R | c.665C>T (p.Thr222Ile) | gnomAD v4 |
| 18 | g.13884854G>C | CA401994473 | MC2R | c.665C>G (p.Thr222Ser) | |
| 18 | g.13884854G= | CA2285919298 | MC2R | c.665C= (p.Thr222=) | |
| 18 | g.13884854G>T | CA401994471 | MC2R | c.665C>A (p.Thr222Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884855T>A | CA401994475 | MC2R | c.664A>T (p.Thr222Ser) | |
| 18 | g.13884855T>C | CA401994477 | MC2R | c.664A>G (p.Thr222Ala) | |
| 18 | g.13884855T>G | CA401994479 | MC2R | c.664A>C (p.Thr222Pro) | |
| 18 | g.13884856C>A | CA503248246 | MC2R | c.663G>T (p.Leu221=) | |
| 18 | g.13884856C= | CA2285919299 | MC2R | c.663G= (p.Leu221=) | |
| 18 | g.13884856C>G | CA503248248 | MC2R | c.663G>C (p.Leu221=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884856C>T | CA503248250 | MC2R | c.663G>A (p.Leu221=) | |
| 18 | g.13884857A>C | CA401994481 | MC2R | c.662T>G (p.Leu221Arg) | |
| 18 | g.13884857A>G | CA401994483 | MC2R | c.662T>C (p.Leu221Pro) | |
| 18 | g.13884857A>T | CA401994485 | MC2R | c.662T>A (p.Leu221Gln) | |
| 18 | g.13884858G>A | CA8902424 | MC2R | c.661C>T (p.Leu221=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884858G>C | CA401994488 | MC2R | c.661C>G (p.Leu221Val) | |
| 18 | g.13884858G= | CA2285919300 | MC2R | c.661C= (p.Leu221=) | |
| 18 | g.13884858G>T | CA401994490 | MC2R | c.661C>A (p.Leu221Met) | |
| 18 | g.13884859T>A | CA503248257 | MC2R | c.660A>T (p.Thr220=) | |
| 18 | g.13884859T>C | CA503248255 | MC2R | c.660A>G (p.Thr220=) | |
| 18 | g.13884859T>G | CA503248253 | MC2R | c.660A>C (p.Thr220=) | |
| 18 | g.13884860G>A | CA401994495 | MC2R | c.659C>T (p.Thr220Ile) | gnomAD v4 COSMIC |
| 18 | g.13884860G>C | CA401994497 | MC2R | c.659C>G (p.Thr220Arg) | |
| 18 | g.13884860G>T | CA401994493 | MC2R | c.659C>A (p.Thr220Lys) | |
| 18 | g.13884860_13884863delinsGTGA | CA2285919301 | MC2R | c.656_659delinsTCAC (p.Ile219=) | |
| 18 | g.13884861T>A | CA401994500 | MC2R | c.658A>T (p.Thr220Ser) | |
| 18 | g.13884861T>C | CA401994502 | MC2R | c.658A>G (p.Thr220Ala) | |
| 18 | g.13884861T>G | CA401994503 | MC2R | c.658A>C (p.Thr220Pro) | |
| 18 | g.13884863_13884865del | CA8902425 | MC2R | c.656_658del (p.Ile219del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884862G>A | CA503248265 | MC2R | c.657C>T (p.Ile219=) | |
| 18 | g.13884862G>C | CA8902426 | MC2R | c.657C>G (p.Ile219Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884862G= | CA2285919302 | MC2R | c.657C= (p.Ile219=) | |
| 18 | g.13884862G>T | CA503248268 | MC2R | c.657C>A (p.Ile219=) | gnomAD v4 |
| 18 | g.13884863A= | CA2285919303 | MC2R | c.656T= (p.Ile219=) | |
| 18 | g.13884863A>C | CA401994510 | MC2R | c.656T>G (p.Ile219Ser) | |
| 18 | g.13884863A>G | CA8902427 | MC2R | c.656T>C (p.Ile219Thr) | dbSNP ExAC gnomAD v4 |
| 18 | g.13884863A>T | CA401994507 | MC2R | c.656T>A (p.Ile219Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884863_13884878delinsATGGCCCCTTTCATGT | CA2285919304 | MC2R | c.641_656delinsACATGAAAGGGGCCAT (p.Asn214=) | |
| 18 | g.13884864T>A | CA401994513 | MC2R | c.655A>T (p.Ile219Phe) | |
| 18 | g.13884864T>C | CA401994514 | MC2R | c.655A>G (p.Ile219Val) | |
| 18 | g.13884864T>G | CA401994516 | MC2R | c.655A>C (p.Ile219Leu) | |
| 18 | g.13884868_13884882del | CA628623261 | MC2R | c.641_655del (p.Asn214_Ala218del) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884865G>A | CA503248272 | MC2R | c.654C>T (p.Ala218=) | |
| 18 | g.13884865G>C | CA503248275 | MC2R | c.654C>G (p.Ala218=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884865G= | CA2285919305 | MC2R | c.654C= (p.Ala218=) | |
| 18 | g.13884865G>T | CA503248273 | MC2R | c.654C>A (p.Ala218=) | |
| 18 | g.13884866G>A | CA401994518 | MC2R | c.653C>T (p.Ala218Val) | |
| 18 | g.13884866G>C | CA401994521 | MC2R | c.653C>G (p.Ala218Gly) | |
| 18 | g.13884866G= | CA2285919306 | MC2R | c.653C= (p.Ala218=) | |
| 18 | g.13884866G>T | CA401994522 | MC2R | c.653C>A (p.Ala218Asp) | |
| 18 | g.13884866_13884867insT | CA8902428 | MC2R | c.652_653insA (p.Ala218AspfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884867C>A | CA401994530 | MC2R | c.652G>T (p.Ala218Ser) | |
| 18 | g.13884867C>G | CA401994528 | MC2R | c.652G>C (p.Ala218Pro) | |
| 18 | g.13884867C>T | CA401994526 | MC2R | c.652G>A (p.Ala218Thr) | |
| 18 | g.13884868C>A | CA503248285 | MC2R | c.651G>T (p.Gly217=) | COSMIC |
| 18 | g.13884868C>G | CA503248281 | MC2R | c.651G>C (p.Gly217=) | gnomAD v4 |
| 18 | g.13884868C>T | CA503248283 | MC2R | c.651G>A (p.Gly217=) | gnomAD v4 |
| 18 | g.13884869C>A | CA401994533 | MC2R | c.650G>T (p.Gly217Val) | |
| 18 | g.13884869C>G | CA401994534 | MC2R | c.650G>C (p.Gly217Ala) | gnomAD v4 |
| 18 | g.13884869C>T | CA401994536 | MC2R | c.650G>A (p.Gly217Glu) | COSMIC |
| 18 | g.13884870C>A | CA401994539 | MC2R | c.649G>T (p.Gly217Trp) | gnomAD v4 |
| 18 | g.13884870C= | CA2285919307 | MC2R | c.649G= (p.Gly217=) | |
| 18 | g.13884870C>G | CA401994541 | MC2R | c.649G>C (p.Gly217Arg) | |
| 18 | g.13884870C>T | CA296828664 | MC2R | c.649G>A (p.Gly217Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884870_13884871del | CA2641150777 | MC2R | c.648_649del (p.Ala218HisfsTer?) | gnomAD v4 |
| 18 | g.13884871T>A | CA401994544 | MC2R | c.648A>T (p.Lys216Asn) | |
| 18 | g.13884871T>C | CA503248288 | MC2R | c.648A>G (p.Lys216=) | |
| 18 | g.13884871T>G | CA401994546 | MC2R | c.648A>C (p.Lys216Asn) | |
| 18 | g.13884872T>A | CA401994549 | MC2R | c.647A>T (p.Lys216Ile) | |
| 18 | g.13884872T>C | CA401994550 | MC2R | c.647A>G (p.Lys216Arg) | gnomAD v4 |
| 18 | g.13884872T>G | CA401994552 | MC2R | c.647A>C (p.Lys216Thr) | |
| 18 | g.13884873T>A | CA401994558 | MC2R | c.646A>T (p.Lys216Ter) | |
| 18 | g.13884873T>C | CA401994556 | MC2R | c.646A>G (p.Lys216Glu) | |
| 18 | g.13884873T>G | CA401994554 | MC2R | c.646A>C (p.Lys216Gln) | |
| 18 | g.13884874C>A | CA401994563 | MC2R | c.645G>T (p.Met215Ile) | |
| 18 | g.13884874C>G | CA401994561 | MC2R | c.645G>C (p.Met215Ile) | |
| 18 | g.13884874C>T | CA401994564 | MC2R | c.645G>A (p.Met215Ile) | COSMIC |
| 18 | g.13884875A= | CA2285919308 | MC2R | c.644T= (p.Met215=) | |
| 18 | g.13884875A>C | CA401994567 | MC2R | c.644T>G (p.Met215Arg) | |
| 18 | g.13884875A>G | CA401994570 | MC2R | c.644T>C (p.Met215Thr) | |
| 18 | g.13884875A>T | CA8902429 | MC2R | c.644T>A (p.Met215Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884876T>A | CA401994573 | MC2R | c.643A>T (p.Met215Leu) | |
| 18 | g.13884876T>C | CA8902430 | MC2R | c.643A>G (p.Met215Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884876T>G | CA401994574 | MC2R | c.643A>C (p.Met215Leu) | |
| 18 | g.13884876T= | CA2285919309 | MC2R | c.643A= (p.Met215=) | |
| 18 | g.13884877G>A | CA8902431 | MC2R | c.642C>T (p.Asn214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884877G>C | CA401994577 | MC2R | c.642C>G (p.Asn214Lys) | |
| 18 | g.13884877G= | CA2285919310 | MC2R | c.642C= (p.Asn214=) | |
| 18 | g.13884877G>T | CA401994579 | MC2R | c.642C>A (p.Asn214Lys) | dbSNP |
| 18 | g.13884878T>A | CA401994586 | MC2R | c.641A>T (p.Asn214Ile) | |
| 18 | g.13884878T>C | CA401994584 | MC2R | c.641A>G (p.Asn214Ser) | gnomAD v4 |
| 18 | g.13884878T>G | CA401994582 | MC2R | c.641A>C (p.Asn214Thr) | |
| 18 | g.13884879T>A | CA401994589 | MC2R | c.640A>T (p.Asn214Tyr) | dbSNP gnomAD v4 |
| 18 | g.13884879T>C | CA401994591 | MC2R | c.640A>G (p.Asn214Asp) | |
| 18 | g.13884879T>G | CA401994592 | MC2R | c.640A>C (p.Asn214His) | |
| 18 | g.13884879T= | CA2285919311 | MC2R | c.640A= (p.Asn214=) | |
| 18 | g.13884880G>A | CA503248306 | MC2R | c.639C>T (p.Ala213=) | |
| 18 | g.13884880G>C | CA503248307 | MC2R | c.639C>G (p.Ala213=) | |
| 18 | g.13884880G>T | CA503248309 | MC2R | c.639C>A (p.Ala213=) | gnomAD v4 |
| 18 | g.13884881G>A | CA8902432 | MC2R | c.638C>T (p.Ala213Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884881G>C | CA401994595 | MC2R | c.638C>G (p.Ala213Gly) | |
| 18 | g.13884881G= | CA2285919312 | MC2R | c.638C= (p.Ala213=) | |
| 18 | g.13884881G>T | CA401994597 | MC2R | c.638C>A (p.Ala213Asp) | |
| 18 | g.13884882C>A | CA8902433 | MC2R | c.637G>T (p.Ala213Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884882C= | CA2285919313 | MC2R | c.637G= (p.Ala213=) | |
| 18 | g.13884882C>G | CA401994603 | MC2R | c.637G>C (p.Ala213Pro) | |
| 18 | g.13884882C>T | CA401994601 | MC2R | c.637G>A (p.Ala213Thr) | |
| 18 | g.13884883T>A | CA401994605 | MC2R | c.636A>T (p.Arg212Ser) | |
| 18 | g.13884883T>C | CA503248311 | MC2R | c.636A>G (p.Arg212=) | gnomAD v4 |
| 18 | g.13884883T>G | CA401994606 | MC2R | c.636A>C (p.Arg212Ser) | |
| 18 | g.13884884C>A | CA401994607 | MC2R | c.635G>T (p.Arg212Ile) | |
| 18 | g.13884884C>G | CA401994609 | MC2R | c.635G>C (p.Arg212Thr) | |
| 18 | g.13884884C>T | CA401994611 | MC2R | c.635G>A (p.Arg212Lys) | |
| 18 | g.13884884_13884885delinsCT | CA2285919314 | MC2R | c.634_635delinsAG (p.Arg212=) | |
| 18 | g.13884885del | CA628623268 | MC2R | c.634del (p.Arg212GlufsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884885T>A | CA401994613 | MC2R | c.634A>T (p.Arg212Ter) | |
| 18 | g.13884885T>C | CA401994615 | MC2R | c.634A>G (p.Arg212Gly) | |
| 18 | g.13884885T>G | CA503248315 | MC2R | c.634A>C (p.Arg212=) | |
| 18 | g.13884885_13884888delinsTGGG | CA2285919315 | MC2R | c.631_634delinsCCCA (p.Pro211=) | |
| 18 | g.13884886G>A | CA8902434 | MC2R | c.633C>T (p.Pro211=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884886G>C | CA503248320 | MC2R | c.633C>G (p.Pro211=) | gnomAD v4 |
| 18 | g.13884886G= | CA2285919316 | MC2R | c.633C= (p.Pro211=) | |
| 18 | g.13884886G>T | CA503248317 | MC2R | c.633C>A (p.Pro211=) | |
| 18 | g.13884887_13884889del | CA776351216 | MC2R | c.631_633del (p.Pro211del) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884887G>A | CA401994619 | MC2R | c.632C>T (p.Pro211Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884887G>C | CA401994621 | MC2R | c.632C>G (p.Pro211Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884887G= | CA2285919317 | MC2R | c.632C= (p.Pro211=) | |
| 18 | g.13884887G>T | CA401994622 | MC2R | c.632C>A (p.Pro211His) | gnomAD v4 |
| 18 | g.13884888G>A | CA8902435 | MC2R | c.631C>T (p.Pro211Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884888G>C | CA401994627 | MC2R | c.631C>G (p.Pro211Ala) | |
| 18 | g.13884888G= | CA2285919318 | MC2R | c.631C= (p.Pro211=) | |
| 18 | g.13884888G>T | CA401994626 | MC2R | c.631C>A (p.Pro211Thr) | |
| 18 | g.13884889G>A | CA503248323 | MC2R | c.630C>T (p.Leu210=) | |
| 18 | g.13884889G>C | CA503248325 | MC2R | c.630C>G (p.Leu210=) | |
| 18 | g.13884889G>T | CA503248326 | MC2R | c.630C>A (p.Leu210=) | |
| 18 | g.13884890A= | CA2285919319 | MC2R | c.629T= (p.Leu210=) | |
| 18 | g.13884890A>C | CA401994631 | MC2R | c.629T>G (p.Leu210Arg) | |
| 18 | g.13884890A>G | CA401994632 | MC2R | c.629T>C (p.Leu210Pro) | dbSNP |
| 18 | g.13884890A>T | CA401994634 | MC2R | c.629T>A (p.Leu210His) | |
| 18 | g.13884891G>A | CA401994637 | MC2R | c.628C>T (p.Leu210Phe) | gnomAD v4 |
| 18 | g.13884891G>C | CA401994639 | MC2R | c.628C>G (p.Leu210Val) | |
| 18 | g.13884891G>T | CA401994641 | MC2R | c.628C>A (p.Leu210Ile) | |
| 18 | g.13884892G>A | CA503248328 | MC2R | c.627C>T (p.Thr209=) | dbSNP gnomAD v4 |
| 18 | g.13884892G>C | CA503248330 | MC2R | c.627C>G (p.Thr209=) | |
| 18 | g.13884892G= | CA2285919320 | MC2R | c.627C= (p.Thr209=) | |
| 18 | g.13884892G>T | CA503248329 | MC2R | c.627C>A (p.Thr209=) | |
| 18 | g.13884893G>A | CA296828689 | MC2R | c.626C>T (p.Thr209Ile) | dbSNP gnomAD v4 COSMIC |
| 18 | g.13884893G>C | CA401994645 | MC2R | c.626C>G (p.Thr209Ser) | |
| 18 | g.13884893G= | CA2285919321 | MC2R | c.626C= (p.Thr209=) | |
| 18 | g.13884893G>T | CA401994646 | MC2R | c.626C>A (p.Thr209Asn) | |
| 18 | g.13884894T>A | CA401994648 | MC2R | c.625A>T (p.Thr209Ser) | |
| 18 | g.13884894T>C | CA401994650 | MC2R | c.625A>G (p.Thr209Ala) | |
| 18 | g.13884894T>G | CA401994651 | MC2R | c.625A>C (p.Thr209Pro) | dbSNP |
| 18 | g.13884894T= | CA2285919322 | MC2R | c.625A= (p.Thr209=) | |
| 18 | g.13884895G>A | CA8902436 | MC2R | c.624C>T (p.Ser208=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884895G>C | CA503248334 | MC2R | c.624C>G (p.Ser208=) | |
| 18 | g.13884895G= | CA2285919323 | MC2R | c.624C= (p.Ser208=) | |
| 18 | g.13884895G>T | CA503248335 | MC2R | c.624C>A (p.Ser208=) | |
| 18 | g.13884896G>A | CA401994656 | MC2R | c.623C>T (p.Ser208Phe) | gnomAD v4 |
| 18 | g.13884896G>C | CA401994660 | MC2R | c.623C>G (p.Ser208Cys) | |
| 18 | g.13884896G>T | CA401994658 | MC2R | c.623C>A (p.Ser208Tyr) | gnomAD v4 |
| 18 | g.13884897A>C | CA401994663 | MC2R | c.622T>G (p.Ser208Ala) | |
| 18 | g.13884897A>G | CA401994665 | MC2R | c.622T>C (p.Ser208Pro) | |
| 18 | g.13884897A>T | CA401994666 | MC2R | c.622T>A (p.Ser208Thr) | |
| 18 | g.13884898G>A | CA503248340 | MC2R | c.621C>T (p.Ile207=) | gnomAD v4 |
| 18 | g.13884898G>C | CA401994667 | MC2R | c.621C>G (p.Ile207Met) | |
| 18 | g.13884898G>T | CA503248343 | MC2R | c.621C>A (p.Ile207=) | |
| 18 | g.13884899A= | CA2285919324 | MC2R | c.620T= (p.Ile207=) | |
| 18 | g.13884899A>C | CA401994670 | MC2R | c.620T>G (p.Ile207Ser) | |
| 18 | g.13884899A>G | CA401994672 | MC2R | c.620T>C (p.Ile207Thr) | |
| 18 | g.13884899A>T | CA8902437 | MC2R | c.620T>A (p.Ile207Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884900T>A | CA401994674 | MC2R | c.619A>T (p.Ile207Phe) | |
| 18 | g.13884900T>C | CA401994676 | MC2R | c.619A>G (p.Ile207Val) | gnomAD v4 |
| 18 | g.13884900T>G | CA401994677 | MC2R | c.619A>C (p.Ile207Leu) | |
| 18 | g.13884901C>A | CA401994679 | MC2R | c.618G>T (p.Lys206Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884901C= | CA2285919325 | MC2R | c.618G= (p.Lys206=) | |
| 18 | g.13884901C>G | CA401994680 | MC2R | c.618G>C (p.Lys206Asn) | |
| 18 | g.13884901C>T | CA503248345 | MC2R | c.618G>A (p.Lys206=) | |
| 18 | g.13884902T>A | CA401994682 | MC2R | c.617A>T (p.Lys206Met) | |
| 18 | g.13884902T>C | CA401994684 | MC2R | c.617A>G (p.Lys206Arg) | |
| 18 | g.13884902T>G | CA8902438 | MC2R | c.617A>C (p.Lys206Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884902T= | CA2285919326 | MC2R | c.617A= (p.Lys206=) | |
| 18 | g.13884903T>A | CA401994687 | MC2R | c.616A>T (p.Lys206Ter) | |
| 18 | g.13884903T>C | CA401994689 | MC2R | c.616A>G (p.Lys206Glu) | |
| 18 | g.13884903T>G | CA401994690 | MC2R | c.616A>C (p.Lys206Gln) | |
| 18 | g.13884904C>A | CA401994693 | MC2R | c.615G>T (p.Arg205Ser) | |
| 18 | g.13884904C>G | CA401994694 | MC2R | c.615G>C (p.Arg205Ser) | |
| 18 | g.13884904C>T | CA503248350 | MC2R | c.615G>A (p.Arg205=) | |
| 18 | g.13884905C>A | CA401994696 | MC2R | c.614G>T (p.Arg205Met) | |
| 18 | g.13884905C= | CA2285919327 | MC2R | c.614G= (p.Arg205=) | |
| 18 | g.13884905C>G | CA401994698 | MC2R | c.614G>C (p.Arg205Thr) | |
| 18 | g.13884905C>T | CA401994699 | MC2R | c.614G>A (p.Arg205Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884906T>A | CA401994701 | MC2R | c.613A>T (p.Arg205Trp) | |
| 18 | g.13884906T>C | CA401994703 | MC2R | c.613A>G (p.Arg205Gly) | gnomAD v4 |
| 18 | g.13884906T>G | CA503248355 | MC2R | c.613A>C (p.Arg205=) | |
| 18 | g.13884907G>A | CA503248358 | MC2R | c.612C>T (p.Thr204=) | gnomAD v4 |
| 18 | g.13884907G>C | CA503248361 | MC2R | c.612C>G (p.Thr204=) | gnomAD v4 |
| 18 | g.13884907G= | CA2285919328 | MC2R | c.612C= (p.Thr204=) | |
| 18 | g.13884907G>T | CA503248359 | MC2R | c.612C>A (p.Thr204=) | dbSNP gnomAD v4 |
| 18 | g.13884907_13884908del | CA988025185 | MC2R | c.611_612del (p.Thr204LysfsTer?) | gnomAD v3 gnomAD v4 |
| 18 | g.13884908G>A | CA401994705 | MC2R | c.611C>T (p.Thr204Ile) | |
| 18 | g.13884908G>C | CA401994707 | MC2R | c.611C>G (p.Thr204Ser) | |
| 18 | g.13884908G= | CA2285919329 | MC2R | c.611C= (p.Thr204=) | |
| 18 | g.13884908G>T | CA8902439 | MC2R | c.611C>A (p.Thr204Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884909T>A | CA401994712 | MC2R | c.610A>T (p.Thr204Ser) | |
| 18 | g.13884909T>C | CA401994716 | MC2R | c.610A>G (p.Thr204Ala) | |
| 18 | g.13884909T>G | CA401994714 | MC2R | c.610A>C (p.Thr204Pro) | gnomAD v4 |
| 18 | g.13884910G>A | CA503248365 | MC2R | c.609C>T (p.His203=) | |
| 18 | g.13884910G>C | CA401994718 | MC2R | c.609C>G (p.His203Gln) | |
| 18 | g.13884910G>T | CA401994720 | MC2R | c.609C>A (p.His203Gln) | gnomAD v3 gnomAD v4 |
| 18 | g.13884911T>A | CA8902440 | MC2R | c.608A>T (p.His203Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884911T>C | CA401994722 | MC2R | c.608A>G (p.His203Arg) | dbSNP |
| 18 | g.13884911T>G | CA401994723 | MC2R | c.608A>C (p.His203Pro) | |
| 18 | g.13884911T= | CA2285919330 | MC2R | c.608A= (p.His203=) | |
| 18 | g.13884911_13884912insTAATGATAC | CA988025194 | MC2R | c.607_608insGTATCATTA (p.His203delinsArgIleIleAsn) | gnomAD v3 gnomAD v4 |
| 18 | g.13884912G>A | CA401994725 | MC2R | c.607C>T (p.His203Tyr) | COSMIC |
| 18 | g.13884912G>C | CA401994726 | MC2R | c.607C>G (p.His203Asp) | |
| 18 | g.13884912G>T | CA401994727 | MC2R | c.607C>A (p.His203Asn) | |
| 18 | g.13884913G>A | CA8902441 | MC2R | c.606C>T (p.Ser202=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884913G>C | CA503248369 | MC2R | c.606C>G (p.Ser202=) | |
| 18 | g.13884913G= | CA2285919331 | MC2R | c.606C= (p.Ser202=) | |
| 18 | g.13884913G>T | CA503248368 | MC2R | c.606C>A (p.Ser202=) | |
| 18 | g.13884914G>A | CA401994733 | MC2R | c.605C>T (p.Ser202Phe) | COSMIC |
| 18 | g.13884914G>C | CA401994732 | MC2R | c.605C>G (p.Ser202Cys) | |
| 18 | g.13884914G>T | CA401994731 | MC2R | c.605C>A (p.Ser202Tyr) | |
| 18 | g.13884914_13884916del | CA988025198 | MC2R | c.603_605del (p.Ser202del) | gnomAD v3 gnomAD v4 |
| 18 | g.13884915A= | CA2285919332 | MC2R | c.604T= (p.Ser202=) | |
| 18 | g.13884915A>C | CA401994737 | MC2R | c.604T>G (p.Ser202Ala) | |
| 18 | g.13884915A>G | CA401994738 | MC2R | c.604T>C (p.Ser202Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884915A>T | CA401994741 | MC2R | c.604T>A (p.Ser202Thr) | |
| 18 | g.13884916T>A | CA503248374 | MC2R | c.603A>T (p.Arg201=) | |
| 18 | g.13884916T>C | CA503248375 | MC2R | c.603A>G (p.Arg201=) | |
| 18 | g.13884916T>G | CA503248377 | MC2R | c.603A>C (p.Arg201=) | |
| 18 | g.13884917C>A | CA296828703 | MC2R | c.602G>T (p.Arg201Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884917C= | CA2285919333 | MC2R | c.602G= (p.Arg201=) | |
| 18 | g.13884917C>G | CA401994744 | MC2R | c.602G>C (p.Arg201Pro) | |
| 18 | g.13884917C>T | CA8902442 | MC2R | c.602G>A (p.Arg201Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884918G>A | CA116117 | MC2R | c.601C>T (p.Arg201Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884918G>C | CA401994750 | MC2R | c.601C>G (p.Arg201Gly) | dbSNP |
| 18 | g.13884918G= | CA2285919334 | MC2R | c.601C= (p.Arg201=) | |
| 18 | g.13884918G>T | CA8902443 | MC2R | c.601C>A (p.Arg201=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884919A>C | CA503248387 | MC2R | c.600T>G (p.Ala200=) | |
| 18 | g.13884919A>G | CA503248389 | MC2R | c.600T>C (p.Ala200=) | |
| 18 | g.13884919A>T | CA503248390 | MC2R | c.600T>A (p.Ala200=) | |
| 18 | g.13884919_13884920delinsAG | CA2285919335 | MC2R | c.599_600delinsCT (p.Ala200=) | |
| 18 | g.13884920del | CA988025211 | MC2R | c.599del (p.Ala200ValfsTer16) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884920G>A | CA401994753 | MC2R | c.599C>T (p.Ala200Val) | gnomAD v4 |
| 18 | g.13884920G>C | CA401994755 | MC2R | c.599C>G (p.Ala200Gly) | |
| 18 | g.13884920G>T | CA401994756 | MC2R | c.599C>A (p.Ala200Asp) | |
| 18 | g.13884921C>A | CA401994760 | MC2R | c.598G>T (p.Ala200Ser) | dbSNP gnomAD v4 |
| 18 | g.13884921C= | CA2285919336 | MC2R | c.598G= (p.Ala200=) | |
| 18 | g.13884921C>G | CA401994759 | MC2R | c.598G>C (p.Ala200Pro) | |
| 18 | g.13884921C>T | CA401994757 | MC2R | c.598G>A (p.Ala200Thr) | |
| 18 | g.13884922C>A | CA503248400 | MC2R | c.597G>T (p.Leu199=) | |
| 18 | g.13884922C>G | CA503248396 | MC2R | c.597G>C (p.Leu199=) | |
| 18 | g.13884922C>T | CA503248399 | MC2R | c.597G>A (p.Leu199=) | gnomAD v4 |
| 18 | g.13884923A= | CA2285919337 | MC2R | c.596T= (p.Leu199=) | |
| 18 | g.13884923A>C | CA401994762 | MC2R | c.596T>G (p.Leu199Arg) | |
| 18 | g.13884923A>G | CA401994764 | MC2R | c.596T>C (p.Leu199Pro) | COSMIC |
| 18 | g.13884923A>T | CA401994766 | MC2R | c.596T>A (p.Leu199Gln) | dbSNP gnomAD v2 gnomAD v4 |