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.13885146C>A | CA401995381 | MC2R | c.373G>T (p.Ala125Ser) | |
| 18 | g.13885146C= | CA2285919446 | MC2R | c.373G= (p.Ala125=) | |
| 18 | g.13885146C>G | CA401995382 | MC2R | c.373G>C (p.Ala125Pro) | |
| 18 | g.13885146C>T | CA296828852 | MC2R | c.373G>A (p.Ala125Thr) | dbSNP |
| 18 | g.13885147A>C | CA401995383 | MC2R | c.372T>G (p.Ile124Met) | |
| 18 | g.13885147A>G | CA503248436 | MC2R | c.372T>C (p.Ile124=) | |
| 18 | g.13885147A>T | CA503248437 | MC2R | c.372T>A (p.Ile124=) | |
| 18 | g.13885148A>C | CA401995384 | MC2R | c.371T>G (p.Ile124Ser) | |
| 18 | g.13885148A>G | CA401995385 | MC2R | c.371T>C (p.Ile124Thr) | |
| 18 | g.13885148A>T | CA401995386 | MC2R | c.371T>A (p.Ile124Asn) | |
| 18 | g.13885149T>A | CA401995387 | MC2R | c.370A>T (p.Ile124Phe) c.370A>T | |
| 18 | g.13885149T>C | CA401995388 | MC2R | c.370A>G (p.Ile124Val) c.370A>G | |
| 18 | g.13885149T>G | CA401995389 | MC2R | c.370A>C (p.Ile124Leu) c.370A>C | |
| 18 | g.13885149_13885151delinsTCA | CA2285919447 | MC2R | c.368_370delinsTGA (p.Val123=) | |
| 18 | g.13885150C>A | CA503248441 | MC2R | c.369G>T (p.Val123=) | gnomAD v4 |
| 18 | g.13885150C>G | CA503248443 | MC2R | c.369G>C (p.Val123=) | |
| 18 | g.13885150C>T | CA503248440 | MC2R | c.369G>A (p.Val123=) | gnomAD v4 |
| 18 | g.13885152_13885153del | CA8902502 | MC2R | c.368_369del (p.Val123AspfsTer?) c.368_369del (p.Val123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885151A>C | CA401995390 | MC2R | c.368T>G (p.Val123Gly) | |
| 18 | g.13885151A>G | CA401995391 | MC2R | c.368T>C (p.Val123Ala) | gnomAD v4 |
| 18 | g.13885151A>T | CA401995392 | MC2R | c.368T>A (p.Val123Glu) | |
| 18 | g.13885152C>A | CA401995395 | MC2R | c.367G>T (p.Val123Leu) | |
| 18 | g.13885152C= | CA2285919448 | MC2R | c.367G= (p.Val123=) | |
| 18 | g.13885152C>G | CA401995393 | MC2R | c.367G>C (p.Val123Leu) | |
| 18 | g.13885152C>T | CA401995394 | MC2R | c.367G>A (p.Val123Met) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885153A>C | CA503248449 | MC2R | c.366T>G (p.Ser122=) | |
| 18 | g.13885153A>G | CA503248451 | MC2R | c.366T>C (p.Ser122=) | |
| 18 | g.13885153A>T | CA503248453 | MC2R | c.366T>A (p.Ser122=) | |
| 18 | g.13885154G>A | CA401995396 | MC2R | c.365C>T (p.Ser122Phe) | |
| 18 | g.13885154G>C | CA401995397 | MC2R | c.365C>G (p.Ser122Cys) | |
| 18 | g.13885154G= | CA2285919449 | MC2R | c.365C= (p.Ser122=) | |
| 18 | g.13885154G>T | CA401995398 | MC2R | c.365C>A (p.Ser122Tyr) | dbSNP |
| 18 | g.13885155A>C | CA401995399 | MC2R | c.364T>G (p.Ser122Ala) | |
| 18 | g.13885155A>G | CA401995400 | MC2R | c.364T>C (p.Ser122Pro) | |
| 18 | g.13885155A>T | CA401995401 | MC2R | c.364T>A (p.Ser122Thr) | |
| 18 | g.13885156C>A | CA503248457 | MC2R | c.363G>T (p.Leu121=) | |
| 18 | g.13885156C= | CA2285919450 | MC2R | c.363G= (p.Leu121=) | |
| 18 | g.13885156C>G | CA503248458 | MC2R | c.363G>C (p.Leu121=) | gnomAD v4 |
| 18 | g.13885156C>T | CA8902503 | MC2R | c.363G>A (p.Leu121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885157A>C | CA401995402 | MC2R | c.362T>G (p.Leu121Arg) | gnomAD v4 |
| 18 | g.13885157A>G | CA401995403 | MC2R | c.362T>C (p.Leu121Pro) | |
| 18 | g.13885157A>T | CA401995404 | MC2R | c.362T>A (p.Leu121Gln) | |
| 18 | g.13885158G>A | CA503248463 | MC2R | c.361C>T (p.Leu121=) | |
| 18 | g.13885158G>C | CA401995405 | MC2R | c.361C>G (p.Leu121Val) | |
| 18 | g.13885158G>T | CA401995406 | MC2R | c.361C>A (p.Leu121Met) | |
| 18 | g.13885159G>A | CA503248465 | MC2R | c.360C>T (p.Ser120=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885159G>C | CA116119 | MC2R | c.360C>G (p.Ser120Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885159G= | CA2285919451 | MC2R | c.360C= (p.Ser120=) | |
| 18 | g.13885159G>T | CA401995407 | MC2R | c.360C>A (p.Ser120Arg) | |
| 18 | g.13885160C>A | CA401995408 | MC2R | c.359G>T (p.Ser120Ile) | gnomAD v4 |
| 18 | g.13885160C>G | CA401995409 | MC2R | c.359G>C (p.Ser120Thr) | |
| 18 | g.13885160C>T | CA401995410 | MC2R | c.359G>A (p.Ser120Asn) | |
| 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 |
| 18 | g.13885176G>A | CA401995443 | MC2R | c.343C>T (p.Leu115Phe) | |
| 18 | g.13885176G>C | CA401995444 | MC2R | c.343C>G (p.Leu115Val) | dbSNP |
| 18 | g.13885176G= | CA2285919456 | MC2R | c.343C= (p.Leu115=) | |
| 18 | g.13885176G>T | CA401995445 | MC2R | c.343C>A (p.Leu115Ile) | |
| 18 | g.13885177C>A | CA503248508 | MC2R | c.342G>T (p.Leu114=) | |
| 18 | g.13885177C= | CA2285919457 | MC2R | c.342G= (p.Leu114=) | |
| 18 | g.13885177C>G | CA503248510 | MC2R | c.342G>C (p.Leu114=) | gnomAD v4 |
| 18 | g.13885177C>T | CA8902505 | MC2R | c.342G>A (p.Leu114=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885178A>C | CA401995446 | MC2R | c.341T>G (p.Leu114Arg) | gnomAD v4 |
| 18 | g.13885178A>G | CA401995447 | MC2R | c.341T>C (p.Leu114Pro) | |
| 18 | g.13885178A>T | CA401995448 | MC2R | c.341T>A (p.Leu114Gln) | |
| 18 | g.13885178dup | CA628624551 | MC2R | c.341dup (p.Leu115AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885179G>A | CA503248513 | MC2R | c.340C>T (p.Leu114=) | |
| 18 | g.13885179G>C | CA401995449 | MC2R | c.340C>G (p.Leu114Val) | |
| 18 | g.13885179G>T | CA401995450 | MC2R | c.340C>A (p.Leu114Met) | |
| 18 | g.13885180G>A | CA503248517 | MC2R | c.339C>T (p.Ser113=) | |
| 18 | g.13885180G>C | CA503248518 | MC2R | c.339C>G (p.Ser113=) | |
| 18 | g.13885180G= | CA2285919458 | MC2R | c.339C= (p.Ser113=) | |
| 18 | g.13885180G>T | CA503248519 | MC2R | c.339C>A (p.Ser113=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885181G>A | CA8902506 | MC2R | c.338C>T (p.Ser113Phe) | dbSNP ExAC gnomAD v2 COSMIC |
| 18 | g.13885181G>C | CA401995451 | MC2R | c.338C>G (p.Ser113Cys) | gnomAD v4 |
| 18 | g.13885181G= | CA2285919459 | MC2R | c.338C= (p.Ser113=) | |
| 18 | g.13885181G>T | CA401995452 | MC2R | c.338C>A (p.Ser113Tyr) | |
| 18 | g.13885182A>C | CA401995455 | MC2R | c.337T>G (p.Ser113Ala) | |
| 18 | g.13885182A>G | CA401995453 | MC2R | c.337T>C (p.Ser113Pro) | |
| 18 | g.13885182A>T | CA401995454 | MC2R | c.337T>A (p.Ser113Thr) | |
| 18 | g.13885183G>A | CA8902507 | MC2R | c.336C>T (p.Leu112=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885183G>C | CA503248522 | MC2R | c.336C>G (p.Leu112=) | gnomAD v4 |
| 18 | g.13885183G= | CA2285919460 | MC2R | c.336C= (p.Leu112=) | |
| 18 | g.13885183G>T | CA503248523 | MC2R | c.336C>A (p.Leu112=) | |
| 18 | g.13885184A>C | CA401995456 | MC2R | c.335T>G (p.Leu112Arg) | |
| 18 | g.13885184A>G | CA401995457 | MC2R | c.335T>C (p.Leu112Pro) | |
| 18 | g.13885184A>T | CA401995458 | MC2R | c.335T>A (p.Leu112His) | |
| 18 | g.13885185G>A | CA401995459 | MC2R | c.334C>T (p.Leu112Phe) | |
| 18 | g.13885185G>C | CA401995460 | MC2R | c.334C>G (p.Leu112Val) | |
| 18 | g.13885185G>T | CA401995461 | MC2R | c.334C>A (p.Leu112Ile) | gnomAD v4 |
| 18 | g.13885186G>A | CA503248529 | MC2R | c.333C>T (p.Val111=) | |
| 18 | g.13885186G>C | CA503248531 | MC2R | c.333C>G (p.Val111=) | |
| 18 | g.13885186G>T | CA503248533 | MC2R | c.333C>A (p.Val111=) | gnomAD v4 |
| 18 | g.13885187A>C | CA401995462 | MC2R | c.332T>G (p.Val111Gly) | |
| 18 | g.13885187A>G | CA401995463 | MC2R | c.332T>C (p.Val111Ala) | gnomAD v4 |
| 18 | g.13885187A>T | CA401995464 | MC2R | c.332T>A (p.Val111Asp) | |
| 18 | g.13885188C>A | CA401995467 | MC2R | c.331G>T (p.Val111Phe) | COSMIC |
| 18 | g.13885188C>G | CA401995466 | MC2R | c.331G>C (p.Val111Leu) | |
| 18 | g.13885188C>T | CA401995465 | MC2R | c.331G>A (p.Val111Ile) | |
| 18 | g.13885189A>C | CA401995468 | MC2R | c.330T>G (p.Phe110Leu) | |
| 18 | g.13885189A>G | CA503248536 | MC2R | c.330T>C (p.Phe110=) | |
| 18 | g.13885189A>T | CA401995469 | MC2R | c.330T>A (p.Phe110Leu) | |
| 18 | g.13885190A>C | CA401995470 | MC2R | c.329T>G (p.Phe110Cys) | |
| 18 | g.13885190A>G | CA401995471 | MC2R | c.329T>C (p.Phe110Ser) | |
| 18 | g.13885190A>T | CA401995472 | MC2R | c.329T>A (p.Phe110Tyr) | |
| 18 | g.13885191A>C | CA401995475 | MC2R | c.328T>G (p.Phe110Val) | |
| 18 | g.13885191A>G | CA401995474 | MC2R | c.328T>C (p.Phe110Leu) | |
| 18 | g.13885191A>T | CA401995473 | MC2R | c.328T>A (p.Phe110Ile) | gnomAD v4 |
| 18 | g.13885192C>A | CA503248540 | MC2R | c.327G>T (p.Leu109=) | |
| 18 | g.13885192C= | CA2285919461 | MC2R | c.327G= (p.Leu109=) | |
| 18 | g.13885192C>G | CA503248542 | MC2R | c.327G>C (p.Leu109=) | |
| 18 | g.13885192C>T | CA8902508 | MC2R | c.327G>A (p.Leu109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885193A= | CA2285919462 | MC2R | c.326T= (p.Leu109=) | |
| 18 | g.13885193A>C | CA401995476 | MC2R | c.326T>G (p.Leu109Arg) | |
| 18 | g.13885193A>G | CA296828861 | MC2R | c.326T>C (p.Leu109Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885193A>T | CA401995477 | MC2R | c.326T>A (p.Leu109Gln) | |
| 18 | g.13885194G>A | CA503248547 | MC2R | c.325C>T (p.Leu109=) | gnomAD v4 |
| 18 | g.13885194G>C | CA401995478 | MC2R | c.325C>G (p.Leu109Val) | |
| 18 | g.13885194G>T | CA401995479 | MC2R | c.325C>A (p.Leu109Met) | dbSNP |
| 18 | g.13885195G>A | CA503248549 | MC2R | c.324C>T (p.Ser108=) | gnomAD v4 |
| 18 | g.13885195G>C | CA503248551 | MC2R | c.324C>G (p.Ser108=) | gnomAD v4 |
| 18 | g.13885195G>T | CA503248555 | MC2R | c.324C>A (p.Ser108=) | |
| 18 | g.13885196G>A | CA401995480 | MC2R | c.323C>T (p.Ser108Phe) | |
| 18 | g.13885196G>C | CA401995482 | MC2R | c.323C>G (p.Ser108Cys) | |
| 18 | g.13885196G>T | CA401995481 | MC2R | c.323C>A (p.Ser108Tyr) | |
| 18 | g.13885197A= | CA2285919463 | MC2R | c.322T= (p.Ser108=) | |
| 18 | g.13885197A>C | CA401995483 | MC2R | c.322T>G (p.Ser108Ala) | |
| 18 | g.13885197A>G | CA401995484 | MC2R | c.322T>C (p.Ser108Pro) | |
| 18 | g.13885197A>T | CA296828863 | MC2R | c.322T>A (p.Ser108Thr) | dbSNP |
| 18 | g.13885198G>A | CA503248558 | MC2R | c.321C>T (p.Asp107=) | |
| 18 | g.13885198G>C | CA401995485 | MC2R | c.321C>G (p.Asp107Glu) | |
| 18 | g.13885198G>T | CA401995486 | MC2R | c.321C>A (p.Asp107Glu) | |
| 18 | g.13885199T>A | CA401995487 | MC2R | c.320A>T (p.Asp107Val) | |
| 18 | g.13885199T>C | CA401995488 | MC2R | c.320A>G (p.Asp107Gly) | gnomAD v4 |
| 18 | g.13885199T>G | CA401995489 | MC2R | c.320A>C (p.Asp107Ala) | |
| 18 | g.13885200C>A | CA401995490 | MC2R | c.319G>T (p.Asp107Tyr) | gnomAD v4 |
| 18 | g.13885200C= | CA2285919464 | MC2R | c.319G= (p.Asp107=) | |
| 18 | g.13885200C>G | CA401995491 | MC2R | c.319G>C (p.Asp107His) | |
| 18 | g.13885200C>T | CA116121 | MC2R | c.319G>A (p.Asp107Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885201G>A | CA8902509 | MC2R | c.318C>T (p.Ile106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885201G>C | CA401995492 | MC2R | c.318C>G (p.Ile106Met) | |
| 18 | g.13885201G= | CA2285919465 | MC2R | c.318C= (p.Ile106=) | |
| 18 | g.13885201G>T | CA503248562 | MC2R | c.318C>A (p.Ile106=) | COSMIC |
| 18 | g.13885202A>C | CA401995493 | MC2R | c.317T>G (p.Ile106Ser) | |
| 18 | g.13885202A>G | CA401995495 | MC2R | c.317T>C (p.Ile106Thr) | |
| 18 | g.13885202A>T | CA401995494 | MC2R | c.317T>A (p.Ile106Asn) | |
| 18 | g.13885203T>A | CA401995496 | MC2R | c.316A>T (p.Ile106Phe) | |
| 18 | g.13885203T>C | CA401995498 | MC2R | c.316A>G (p.Ile106Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885203T>G | CA401995497 | MC2R | c.316A>C (p.Ile106Leu) | |
| 18 | g.13885203T= | CA2285919466 | MC2R | c.316A= (p.Ile106=) | |
| 18 | g.13885204G>A | CA8902510 | MC2R | c.315C>T (p.Ile105=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885204G>C | CA401995499 | MC2R | c.315C>G (p.Ile105Met) | |
| 18 | g.13885204G= | CA2285919467 | MC2R | c.315C= (p.Ile105=) | |
| 18 | g.13885204G>T | CA503248568 | MC2R | c.315C>A (p.Ile105=) | dbSNP gnomAD v4 |
| 18 | g.13885205A= | CA2285919468 | MC2R | c.314T= (p.Ile105=) | |
| 18 | g.13885205A>C | CA401995500 | MC2R | c.314T>G (p.Ile105Ser) | |
| 18 | g.13885205A>G | CA401995501 | MC2R | c.314T>C (p.Ile105Thr) | dbSNP gnomAD v4 |
| 18 | g.13885205A>T | CA401995502 | MC2R | c.314T>A (p.Ile105Asn) | |
| 18 | g.13885206T>A | CA401995503 | MC2R | c.313A>T (p.Ile105Phe) | |
| 18 | g.13885206T>C | CA8902511 | MC2R | c.313A>G (p.Ile105Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885206T>G | CA401995504 | MC2R | c.313A>C (p.Ile105Leu) | |
| 18 | g.13885206T= | CA2285919469 | MC2R | c.313A= (p.Ile105=) | |
| 18 | g.13885207G>A | CA503248573 | MC2R | c.312C>T (p.Asp104=) | gnomAD v4 |
| 18 | g.13885207G>C | CA401995505 | MC2R | c.312C>G (p.Asp104Glu) | |
| 18 | g.13885207G>T | CA401995506 | MC2R | c.312C>A (p.Asp104Glu) | |
| 18 | g.13885208T>A | CA401995507 | MC2R | c.311A>T (p.Asp104Val) | |
| 18 | g.13885208T>C | CA401995508 | MC2R | c.311A>G (p.Asp104Gly) | |
| 18 | g.13885208T>G | CA401995509 | MC2R | c.311A>C (p.Asp104Ala) | |
| 18 | g.13885209C>A | CA401995510 | MC2R | c.310G>T (p.Asp104Tyr) | |
| 18 | g.13885209C>G | CA401995511 | MC2R | c.310G>C (p.Asp104His) | |
| 18 | g.13885209C>T | CA401995512 | MC2R | c.310G>A (p.Asp104Asn) | COSMIC |
| 18 | g.13885210A= | CA2285919470 | MC2R | c.309T= (p.Asp103=) | |
| 18 | g.13885210A>C | CA401995513 | MC2R | c.309T>G (p.Asp103Glu) | |
| 18 | g.13885210A>G | CA503248578 | MC2R | c.309T>C (p.Asp103=) | |
| 18 | g.13885210A>T | CA296828868 | MC2R | c.309T>A (p.Asp103Glu) | dbSNP |
| 18 | g.13885211T>A | CA401995514 | MC2R | c.308A>T (p.Asp103Val) | |
| 18 | g.13885211T>C | CA401995515 | MC2R | c.308A>G (p.Asp103Gly) | gnomAD v4 |
| 18 | g.13885211T>G | CA401995516 | MC2R | c.308A>C (p.Asp103Ala) | |
| 18 | g.13885212C>A | CA401995517 | MC2R | c.307G>T (p.Asp103Tyr) | |
| 18 | g.13885212C= | CA2285919471 | MC2R | c.307G= (p.Asp103=) | |
| 18 | g.13885212C>G | CA401995518 | MC2R | c.307G>C (p.Asp103His) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885212C>T | CA8902512 | MC2R | c.307G>A (p.Asp103Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885213G>A | CA8902513 | MC2R | c.306C>T (p.Ala102=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885213G>C | CA503248585 | MC2R | c.306C>G (p.Ala102=) | |
| 18 | g.13885213G= | CA2285919472 | MC2R | c.306C= (p.Ala102=) | |
| 18 | g.13885213G>T | CA503248586 | MC2R | c.306C>A (p.Ala102=) | |
| 18 | g.13885214G>A | CA401995519 | MC2R | c.305C>T (p.Ala102Val) | |
| 18 | g.13885214G>C | CA401995520 | MC2R | c.305C>G (p.Ala102Gly) | |
| 18 | g.13885214G>T | CA401995521 | MC2R | c.305C>A (p.Ala102Asp) | gnomAD v4 |
| 18 | g.13885215C>A | CA401995522 | MC2R | c.304G>T (p.Ala102Ser) | |
| 18 | g.13885215C= | CA2285919473 | MC2R | c.304G= (p.Ala102=) | |
| 18 | g.13885215C>G | CA401995523 | MC2R | c.304G>C (p.Ala102Pro) | |
| 18 | g.13885215C>T | CA401995524 | MC2R | c.304G>A (p.Ala102Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885216T>A | CA503248590 | MC2R | c.303A>T (p.Thr101=) | |
| 18 | g.13885216T>C | CA503248591 | MC2R | c.303A>G (p.Thr101=) | |
| 18 | g.13885216T>G | CA503248592 | MC2R | c.303A>C (p.Thr101=) | |
| 18 | g.13885216T= | CA2285919474 | MC2R | c.303A= (p.Thr101=) | |
| 18 | g.13885217G>A | CA401995526 | MC2R | c.302C>T (p.Thr101Ile) | |
| 18 | g.13885217G>C | CA401995527 | MC2R | c.302C>G (p.Thr101Arg) | |
| 18 | g.13885217G>T | CA401995525 | MC2R | c.302C>A (p.Thr101Lys) | |
| 18 | g.13885217dup | CA8902514 | MC2R | c.302dup (p.Ala102SerfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885218T>A | CA401995528 | MC2R | c.301A>T (p.Thr101Ser) | |
| 18 | g.13885218T>C | CA401995529 | MC2R | c.301A>G (p.Thr101Ala) | |
| 18 | g.13885218T>G | CA8902515 | MC2R | c.301A>C (p.Thr101Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885218T= | CA2285919475 | MC2R | c.301A= (p.Thr101=) | |
| 18 | g.13885219G>A | CA503248597 | MC2R | c.300C>T (p.Thr100=) | gnomAD v4 |
| 18 | g.13885219G>C | CA503248600 | MC2R | c.300C>G (p.Thr100=) | |
| 18 | g.13885219G>T | CA503248598 | MC2R | c.300C>A (p.Thr100=) | |
| 18 | g.13885220G>A | CA401995530 | MC2R | c.299C>T (p.Thr100Ile) | |
| 18 | g.13885220G>C | CA401995531 | MC2R | c.299C>G (p.Thr100Ser) | |
| 18 | g.13885220G= | CA2285919476 | MC2R | c.299C= (p.Thr100=) | |
| 18 | g.13885220G>T | CA401995532 | MC2R | c.299C>A (p.Thr100Asn) | |
| 18 | g.13885220_13885221insGT | CA296828874 | MC2R | c.298_299insAC (p.Thr100AsnfsTer25) | dbSNP |
| 18 | g.13885221T>A | CA401995533 | MC2R | c.298A>T (p.Thr100Ser) | |
| 18 | g.13885221T>C | CA401995534 | MC2R | c.298A>G (p.Thr100Ala) | |
| 18 | g.13885221T>G | CA8902516 | MC2R | c.298A>C (p.Thr100Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885221T= | CA2285919477 | MC2R | c.298A= (p.Thr100=) | |
| 18 | g.13885222T>A | CA401995535 | MC2R | c.297A>T (p.Glu99Asp) | |
| 18 | g.13885222T>C | CA503248602 | MC2R | c.297A>G (p.Glu99=) | |
| 18 | g.13885222T>G | CA401995536 | MC2R | c.297A>C (p.Glu99Asp) | |
| 18 | g.13885223T>A | CA401995537 | MC2R | c.296A>T (p.Glu99Val) | |
| 18 | g.13885223T>C | CA401995539 | MC2R | c.296A>G (p.Glu99Gly) | |
| 18 | g.13885223T>G | CA401995538 | MC2R | c.296A>C (p.Glu99Ala) | |
| 18 | g.13885224C>A | CA401995540 | MC2R | c.295G>T (p.Glu99Ter) | |
| 18 | g.13885224C= | CA2285919478 | MC2R | c.295G= (p.Glu99=) | |
| 18 | g.13885224C>G | CA401995541 | MC2R | c.295G>C (p.Glu99Gln) | |
| 18 | g.13885224C>T | CA296828875 | MC2R | c.295G>A (p.Glu99Lys) | dbSNP gnomAD v2 |
| 18 | g.13885225A= | CA2285919479 | MC2R | c.294T= (p.Phe98=) | |
| 18 | g.13885225A>C | CA8902517 | MC2R | c.294T>G (p.Phe98Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885225A>G | CA503248603 | MC2R | c.294T>C (p.Phe98=) | dbSNP |
| 18 | g.13885225A>T | CA401995542 | MC2R | c.294T>A (p.Phe98Leu) | |
| 18 | g.13885226A>C | CA401995543 | MC2R | c.293T>G (p.Phe98Cys) | |
| 18 | g.13885226A>G | CA401995544 | MC2R | c.293T>C (p.Phe98Ser) | |
| 18 | g.13885226A>T | CA401995545 | MC2R | c.293T>A (p.Phe98Tyr) | |
| 18 | g.13885227A= | CA2285919480 | MC2R | c.292T= (p.Phe98=) | |
| 18 | g.13885227A>C | CA401995546 | MC2R | c.292T>G (p.Phe98Val) | |
| 18 | g.13885227A>G | CA8902518 | MC2R | c.292T>C (p.Phe98Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885227A>T | CA401995547 | MC2R | c.292T>A (p.Phe98Ile) | |
| 18 | g.13885228A>C | CA401995548 | MC2R | c.291T>G (p.Ser97Arg) | gnomAD v4 |
| 18 | g.13885228A>G | CA503248604 | MC2R | c.291T>C (p.Ser97=) | |
| 18 | g.13885228A>T | CA401995549 | MC2R | c.291T>A (p.Ser97Arg) | |
| 18 | g.13885229C>A | CA401995550 | MC2R | c.290G>T (p.Ser97Ile) | |
| 18 | g.13885229C>G | CA401995551 | MC2R | c.290G>C (p.Ser97Thr) | |
| 18 | g.13885229C>T | CA401995552 | MC2R | c.290G>A (p.Ser97Asn) | gnomAD v4 |
| 18 | g.13885229_13885230insA | CA2641148021 | MC2R | c.289_290insT (p.Ser97MetfsTer3) | gnomAD v4 |
| 18 | g.13885230T>A | CA401995553 | MC2R | c.289A>T (p.Ser97Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885230T>C | CA401995554 | MC2R | c.289A>G (p.Ser97Gly) | |
| 18 | g.13885230T>G | CA401995555 | MC2R | c.289A>C (p.Ser97Arg) | |
| 18 | g.13885230T= | CA2285919481 | MC2R | c.289A= (p.Ser97=) | |
| 18 | g.13885231G>A | CA503248605 | MC2R | c.288C>T (p.Gly96=) | gnomAD v4 |
| 18 | g.13885231G>C | CA503248606 | MC2R | c.288C>G (p.Gly96=) | |
| 18 | g.13885231G= | CA2285919482 | MC2R | c.288C= (p.Gly96=) | |
| 18 | g.13885231G>T | CA503248607 | MC2R | c.288C>A (p.Gly96=) | gnomAD v4 |
| 18 | g.13885232C>A | CA296828879 | MC2R | c.287G>T (p.Gly96Val) | dbSNP |
| 18 | g.13885232C= | CA2285919483 | MC2R | c.287G= (p.Gly96=) | |
| 18 | g.13885232C>G | CA401995557 | MC2R | c.287G>C (p.Gly96Ala) | |
| 18 | g.13885232C>T | CA401995556 | MC2R | c.287G>A (p.Gly96Asp) | dbSNP gnomAD v2 |
| 18 | g.13885232_13885233dup | CA776351914 | MC2R | c.286_287dup (p.Ser97AlafsTer28) | dbSNP |
| 18 | g.13885232_13885237del | CA2641148022 | MC2R | c.282_287del (p.Arg95_Gly96del) | gnomAD v4 |
| 18 | g.13885233C>A | CA401995558 | MC2R | c.286G>T (p.Gly96Cys) | |
| 18 | g.13885233C>G | CA401995559 | MC2R | c.286G>C (p.Gly96Arg) | |
| 18 | g.13885233C>T | CA401995560 | MC2R | c.286G>A (p.Gly96Ser) | |
| 18 | g.13885234A>C | CA503248608 | MC2R | c.285T>G (p.Arg95=) | |
| 18 | g.13885234A>G | CA503248609 | MC2R | c.285T>C (p.Arg95=) | |
| 18 | g.13885234A>T | CA503248610 | MC2R | c.285T>A (p.Arg95=) | |
| 18 | g.13885235C>A | CA8902520 | MC2R | c.284G>T (p.Arg95Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885235C= | CA2285919484 | MC2R | c.284G= (p.Arg95=) | |
| 18 | g.13885235C>G | CA401995561 | MC2R | c.284G>C (p.Arg95Pro) | |
| 18 | g.13885235C>T | CA8902519 | MC2R | c.284G>A (p.Arg95His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885236G>A | CA8902521 | MC2R | c.283C>T (p.Arg95Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885236G>C | CA401995563 | MC2R | c.283C>G (p.Arg95Gly) | |
| 18 | g.13885236G= | CA2285919485 | MC2R | c.283C= (p.Arg95=) | |
| 18 | g.13885236G>T | CA401995562 | MC2R | c.283C>A (p.Arg95Ser) | |
| 18 | g.13885237T>A | CA503248611 | MC2R | c.282A>T (p.Pro94=) | |
| 18 | g.13885237T>C | CA503248612 | MC2R | c.282A>G (p.Pro94=) | |
| 18 | g.13885237T>G | CA503248613 | MC2R | c.282A>C (p.Pro94=) | |
| 18 | g.13885238G>A | CA401995564 | MC2R | c.281C>T (p.Pro94Leu) | |
| 18 | g.13885238G>C | CA401995565 | MC2R | c.281C>G (p.Pro94Arg) | |
| 18 | g.13885238G>T | CA401995566 | MC2R | c.281C>A (p.Pro94Gln) | |
| 18 | g.13885239G>A | CA401995567 | MC2R | c.280C>T (p.Pro94Ser) | |
| 18 | g.13885239G>C | CA401995568 | MC2R | c.280C>G (p.Pro94Ala) | |
| 18 | g.13885239G>T | CA401995569 | MC2R | c.280C>A (p.Pro94Thr) | gnomAD v4 |
| 18 | g.13885240C>A | CA401995570 | MC2R | c.279G>T (p.Lys93Asn) | |
| 18 | g.13885240C= | CA2285919486 | MC2R | c.279G= (p.Lys93=) | |
| 18 | g.13885240C>G | CA401995571 | MC2R | c.279G>C (p.Lys93Asn) | |
| 18 | g.13885240C>T | CA503248614 | MC2R | c.279G>A (p.Lys93=) | |
| 18 | g.13885241T>A | CA401995572 | MC2R | c.278A>T (p.Lys93Met) | |
| 18 | g.13885241T>C | CA401995573 | MC2R | c.278A>G (p.Lys93Arg) | |
| 18 | g.13885241T>G | CA401995574 | MC2R | c.278A>C (p.Lys93Thr) | |
| 18 | g.13885241_13885243dup | CA628624552 | MC2R | c.276_278dup (p.Leu92_Lys93insAsn) | dbSNP gnomAD v2 |
| 18 | g.13885242T>A | CA401995575 | MC2R | c.277A>T (p.Lys93Ter) | |
| 18 | g.13885242T>C | CA401995577 | MC2R | c.277A>G (p.Lys93Glu) | |
| 18 | g.13885242T>G | CA401995576 | MC2R | c.277A>C (p.Lys93Gln) | |
| 18 | g.13885243G>A | CA503248615 | MC2R | c.276C>T (p.Leu92=) | |
| 18 | g.13885243G>C | CA503248616 | MC2R | c.276C>G (p.Leu92=) | |
| 18 | g.13885243G>T | CA503248617 | MC2R | c.276C>A (p.Leu92=) | |
| 18 | g.13885244A>C | CA401995578 | MC2R | c.275T>G (p.Leu92Arg) | COSMIC |
| 18 | g.13885244A>G | CA401995579 | MC2R | c.275T>C (p.Leu92Pro) | |
| 18 | g.13885244A>T | CA401995580 | MC2R | c.275T>A (p.Leu92His) | |
| 18 | g.13885245G>A | CA401995581 | MC2R | c.274C>T (p.Leu92Phe) | |
| 18 | g.13885245G>C | CA401995582 | MC2R | c.274C>G (p.Leu92Val) | |
| 18 | g.13885245G= | CA2285919487 | MC2R | c.274C= (p.Leu92=) | |
| 18 | g.13885245G>T | CA401995583 | MC2R | c.274C>A (p.Leu92Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885246A= | CA2285919488 | MC2R | c.273T= (p.Tyr91=) | |
| 18 | g.13885246A>C | CA401995584 | MC2R | c.273T>G (p.Tyr91Ter) | |
| 18 | g.13885246A>G | CA503248618 | MC2R | c.273T>C (p.Tyr91=) | dbSNP gnomAD v2 |
| 18 | g.13885246A>T | CA401995585 | MC2R | c.273T>A (p.Tyr91Ter) |