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.60371705_60371707del | CA2695227731 | MC4R | c.643_645del (p.Met215del) | |
| 18 | g.60371706A= | CA2307359098 | MC4R | c.644T= (p.Met215=) | |
| 18 | g.60371706A>C | CA8980875 | MC4R | c.644T>G (p.Met215Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371706A>G | CA8980876 | MC4R | c.644T>C (p.Met215Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371706A>T | CA402719371 | MC4R | c.644T>A (p.Met215Lys) | |
| 18 | g.60371707T>A | CA402719372 | MC4R | c.643A>T (p.Met215Leu) | |
| 18 | g.60371707T>C | CA402719373 | MC4R | c.643A>G (p.Met215Val) | gnomAD v4 |
| 18 | g.60371707T>G | CA402719374 | MC4R | c.643A>C (p.Met215Leu) | |
| 18 | g.60371708G>A | CA504305496 | MC4R | c.642C>T (p.His214=) | gnomAD v4 |
| 18 | g.60371708G>C | CA402719376 | MC4R | c.642C>G (p.His214Gln) | |
| 18 | g.60371708G>T | CA402719375 | MC4R | c.642C>A (p.His214Gln) | gnomAD v4 |
| 18 | g.60371709T>A | CA402719377 | MC4R | c.641A>T (p.His214Leu) | |
| 18 | g.60371709T>C | CA402719378 | MC4R | c.641A>G (p.His214Arg) | |
| 18 | g.60371709T>G | CA402719379 | MC4R | c.641A>C (p.His214Pro) | |
| 18 | g.60371710G>A | CA402719380 | MC4R | c.640C>T (p.His214Tyr) | |
| 18 | g.60371710G>C | CA402719381 | MC4R | c.640C>G (p.His214Asp) | |
| 18 | g.60371710G>T | CA402719382 | MC4R | c.640C>A (p.His214Asn) | |
| 18 | g.60371711G>A | CA504305499 | MC4R | c.639C>T (p.Val213=) | gnomAD v4 |
| 18 | g.60371711G>C | CA504305498 | MC4R | c.639C>G (p.Val213=) | |
| 18 | g.60371711G>T | CA504305497 | MC4R | c.639C>A (p.Val213=) | |
| 18 | g.60371712A>C | CA402719383 | MC4R | c.638T>G (p.Val213Gly) | |
| 18 | g.60371712A>G | CA402719384 | MC4R | c.638T>C (p.Val213Ala) | |
| 18 | g.60371712A>T | CA402719385 | MC4R | c.638T>A (p.Val213Asp) | |
| 18 | g.60371713C>A | CA402719386 | MC4R | c.637G>T (p.Val213Phe) | |
| 18 | g.60371713C>G | CA402719387 | MC4R | c.637G>C (p.Val213Leu) | |
| 18 | g.60371713C>T | CA402719388 | MC4R | c.637G>A (p.Val213Ile) | gnomAD v4 |
| 18 | g.60371713_60371717delinsCATAG | CA2307359099 | MC4R | c.633_637delinsCTATG (p.Leu211=) | |
| 18 | g.60371714A= | CA2307359100 | MC4R | c.636T= (p.Tyr212=) | |
| 18 | g.60371714A>C | CA402719390 | MC4R | c.636T>G (p.Tyr212Ter) | |
| 18 | g.60371714A>G | CA8980878 | MC4R | c.636T>C (p.Tyr212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371714A>T | CA402719389 | MC4R | c.636T>A (p.Tyr212Ter) | |
| 18 | g.60371715_60371718del | CA8980877 | MC4R | c.633_636del (p.Tyr212SerfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371715T>A | CA402719393 | MC4R | c.635A>T (p.Tyr212Phe) | |
| 18 | g.60371715T>C | CA402719391 | MC4R | c.635A>G (p.Tyr212Cys) | gnomAD v4 |
| 18 | g.60371715T>G | CA402719392 | MC4R | c.635A>C (p.Tyr212Ser) | |
| 18 | g.60371715_60371719delinsTAGAG | CA2307359101 | MC4R | c.631_635delinsCTCTA (p.Leu211=) | |
| 18 | g.60371716del | CA2695227732 | MC4R | c.634del (p.Tyr212MetfsTer6) | |
| 18 | g.60371716A>C | CA402719394 | MC4R | c.634T>G (p.Tyr212Asp) | |
| 18 | g.60371716A>G | CA402719395 | MC4R | c.634T>C (p.Tyr212His) | gnomAD v4 |
| 18 | g.60371716A>T | CA402719396 | MC4R | c.634T>A (p.Tyr212Asn) | |
| 18 | g.60371719_60371722del | CA301530027 | MC4R | c.631_634del (p.Leu211MetfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371717G>A | CA504305506 | MC4R | c.633C>T (p.Leu211=) | |
| 18 | g.60371717G>C | CA504305508 | MC4R | c.633C>G (p.Leu211=) | |
| 18 | g.60371717G>T | CA504305510 | MC4R | c.633C>A (p.Leu211=) | gnomAD v4 |
| 18 | g.60371718A>C | CA402719397 | MC4R | c.632T>G (p.Leu211Arg) | |
| 18 | g.60371718A>G | CA402719398 | MC4R | c.632T>C (p.Leu211Pro) | |
| 18 | g.60371718A>T | CA402719399 | MC4R | c.632T>A (p.Leu211His) | |
| 18 | g.60371719G>A | CA402719400 | MC4R | c.631C>T (p.Leu211Phe) | dbSNP gnomAD v4 |
| 18 | g.60371719G>C | CA402719401 | MC4R | c.631C>G (p.Leu211Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371719G= | CA2307359102 | MC4R | c.631C= (p.Leu211=) | |
| 18 | g.60371719G>T | CA402719402 | MC4R | c.631C>A (p.Leu211Ile) | |
| 18 | g.60371720A>C | CA504305516 | MC4R | c.630T>G (p.Ser210=) | |
| 18 | g.60371720A>G | CA504305517 | MC4R | c.630T>C (p.Ser210=) | gnomAD v4 |
| 18 | g.60371720A>T | CA504305514 | MC4R | c.630T>A (p.Ser210=) | |
| 18 | g.60371721G>A | CA402719404 | MC4R | c.629C>T (p.Ser210Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371721G>C | CA301530028 | MC4R | c.629C>G (p.Ser210Cys) | dbSNP |
| 18 | g.60371721G= | CA2307359103 | MC4R | c.629C= (p.Ser210=) | |
| 18 | g.60371721G>T | CA402719403 | MC4R | c.629C>A (p.Ser210Tyr) | |
| 18 | g.60371722A>C | CA402719405 | MC4R | c.628T>G (p.Ser210Ala) | |
| 18 | g.60371722A>G | CA402719406 | MC4R | c.628T>C (p.Ser210Pro) | |
| 18 | g.60371722A>T | CA402719407 | MC4R | c.628T>A (p.Ser210Thr) | |
| 18 | g.60371723A>C | CA504305523 | MC4R | c.627T>G (p.Ala209=) | |
| 18 | g.60371723A>G | CA504305521 | MC4R | c.627T>C (p.Ala209=) | |
| 18 | g.60371723A>T | CA504305522 | MC4R | c.627T>A (p.Ala209=) | |
| 18 | g.60371724G>A | CA402719408 | MC4R | c.626C>T (p.Ala209Val) | gnomAD v4 |
| 18 | g.60371724G>C | CA402719409 | MC4R | c.626C>G (p.Ala209Gly) | |
| 18 | g.60371724G= | CA2307359104 | MC4R | c.626C= (p.Ala209=) | |
| 18 | g.60371724G>T | CA8980879 | MC4R | c.626C>A (p.Ala209Asp) | dbSNP ExAC |
| 18 | g.60371725C>A | CA402719410 | MC4R | c.625G>T (p.Ala209Ser) | gnomAD v4 |
| 18 | g.60371725C>G | CA402719411 | MC4R | c.625G>C (p.Ala209Pro) | |
| 18 | g.60371725C>T | CA402719412 | MC4R | c.625G>A (p.Ala209Thr) | |
| 18 | g.60371726C>A | CA8980880 | MC4R | c.624G>T (p.Met208Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371726C= | CA2307359105 | MC4R | c.624G= (p.Met208=) | |
| 18 | g.60371726C>G | CA402719413 | MC4R | c.624G>C (p.Met208Ile) | |
| 18 | g.60371726C>T | CA402719414 | MC4R | c.624G>A (p.Met208Ile) | |
| 18 | g.60371727A= | CA2307359106 | MC4R | c.623T= (p.Met208=) | |
| 18 | g.60371727A>C | CA402719416 | MC4R | c.623T>G (p.Met208Arg) | |
| 18 | g.60371727A>G | CA402719417 | MC4R | c.623T>C (p.Met208Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371727A>T | CA402719415 | MC4R | c.623T>A (p.Met208Lys) | |
| 18 | g.60371728T>A | CA402719418 | MC4R | c.622A>T (p.Met208Leu) | |
| 18 | g.60371728T>C | CA8980881 | MC4R | c.622A>G (p.Met208Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371728T>G | CA402719419 | MC4R | c.622A>C (p.Met208Leu) | gnomAD v4 |
| 18 | g.60371728T= | CA2307359107 | MC4R | c.622A= (p.Met208=) | |
| 18 | g.60371729G>A | CA504305528 | MC4R | c.621C>T (p.Leu207=) | |
| 18 | g.60371729G>C | CA504305529 | MC4R | c.621C>G (p.Leu207=) | |
| 18 | g.60371729G>T | CA504305530 | MC4R | c.621C>A (p.Leu207=) | |
| 18 | g.60371730A>C | CA402719420 | MC4R | c.620T>G (p.Leu207Arg) | |
| 18 | g.60371730A>G | CA402719421 | MC4R | c.620T>C (p.Leu207Pro) | |
| 18 | g.60371730A>T | CA402719422 | MC4R | c.620T>A (p.Leu207His) | |
| 18 | g.60371731G>A | CA402719423 | MC4R | c.619C>T (p.Leu207Phe) | |
| 18 | g.60371731G>C | CA8980882 | MC4R | c.619C>G (p.Leu207Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371731G= | CA2307359108 | MC4R | c.619C= (p.Leu207=) | |
| 18 | g.60371731G>T | CA402719424 | MC4R | c.619C>A (p.Leu207Ile) | |
| 18 | g.60371732A>C | CA504305532 | MC4R | c.618T>G (p.Ala206=) | |
| 18 | g.60371732A>G | CA504305533 | MC4R | c.618T>C (p.Ala206=) | |
| 18 | g.60371732A>T | CA504305534 | MC4R | c.618T>A (p.Ala206=) | |
| 18 | g.60371733G>A | CA402719425 | MC4R | c.617C>T (p.Ala206Val) | |
| 18 | g.60371733G>C | CA402719426 | MC4R | c.617C>G (p.Ala206Gly) | |
| 18 | g.60371733G>T | CA402719427 | MC4R | c.617C>A (p.Ala206Asp) | |
| 18 | g.60371734C>A | CA402719429 | MC4R | c.616G>T (p.Ala206Ser) | gnomAD v4 |
| 18 | g.60371734C>G | CA402719430 | MC4R | c.616G>C (p.Ala206Pro) | |
| 18 | g.60371734C>T | CA402719428 | MC4R | c.616G>A (p.Ala206Thr) | |
| 18 | g.60371735C>A | CA504305538 | MC4R | c.615G>T (p.Leu205=) | |
| 18 | g.60371735C>G | CA504305539 | MC4R | c.615G>C (p.Leu205=) | |
| 18 | g.60371735C>T | CA504305540 | MC4R | c.615G>A (p.Leu205=) | |
| 18 | g.60371736A>C | CA402719431 | MC4R | c.614T>G (p.Leu205Arg) | |
| 18 | g.60371736A>G | CA402719432 | MC4R | c.614T>C (p.Leu205Pro) | |
| 18 | g.60371736A>T | CA402719433 | MC4R | c.614T>A (p.Leu205Gln) | dbSNP |
| 18 | g.60371737_60371748dup | CA2642029298 | MC4R | c.603_614dup (p.Leu205_Ala206insPheThrMetLeu) | gnomAD v4 |
| 18 | g.60371737G>A | CA504305543 | MC4R | c.613C>T (p.Leu205=) | |
| 18 | g.60371737G>C | CA402719434 | MC4R | c.613C>G (p.Leu205Val) | |
| 18 | g.60371737G>T | CA402719435 | MC4R | c.613C>A (p.Leu205Met) | |
| 18 | g.60371738C>A | CA402719438 | MC4R | c.612G>T (p.Met204Ile) | |
| 18 | g.60371738C= | CA2307359109 | MC4R | c.612G= (p.Met204=) | |
| 18 | g.60371738C>G | CA402719437 | MC4R | c.612G>C (p.Met204Ile) | |
| 18 | g.60371738C>T | CA402719436 | MC4R | c.612G>A (p.Met204Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371746_60371757del | CA2695227733 | MC4R | c.601_612del (p.Phe201_Met204del) | |
| 18 | g.60371739A= | CA2307359110 | MC4R | c.611T= (p.Met204=) | |
| 18 | g.60371739A>C | CA402719439 | MC4R | c.611T>G (p.Met204Arg) | |
| 18 | g.60371739A>G | CA402719440 | MC4R | c.611T>C (p.Met204Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371739A>T | CA402719441 | MC4R | c.611T>A (p.Met204Lys) | |
| 18 | g.60371740T>A | CA402719442 | MC4R | c.610A>T (p.Met204Leu) | dbSNP gnomAD v4 COSMIC |
| 18 | g.60371740T>C | CA402719443 | MC4R | c.610A>G (p.Met204Val) | |
| 18 | g.60371740T>G | CA402719444 | MC4R | c.610A>C (p.Met204Leu) | |
| 18 | g.60371740T= | CA2307359111 | MC4R | c.610A= (p.Met204=) | |
| 18 | g.60371741G>A | CA504305550 | MC4R | c.609C>T (p.Thr203=) | |
| 18 | g.60371741G>C | CA504305549 | MC4R | c.609C>G (p.Thr203=) | |
| 18 | g.60371741G>T | CA504305548 | MC4R | c.609C>A (p.Thr203=) | |
| 18 | g.60371742G>A | CA402719445 | MC4R | c.608C>T (p.Thr203Ile) | |
| 18 | g.60371742G>C | CA402719447 | MC4R | c.608C>G (p.Thr203Ser) | |
| 18 | g.60371742G>T | CA402719446 | MC4R | c.608C>A (p.Thr203Asn) | |
| 18 | g.60371743T>A | CA402719448 | MC4R | c.607A>T (p.Thr203Ser) | |
| 18 | g.60371743T>C | CA402719450 | MC4R | c.607A>G (p.Thr203Ala) | |
| 18 | g.60371743T>G | CA402719449 | MC4R | c.607A>C (p.Thr203Pro) | COSMIC |
| 18 | g.60371744G>A | CA504305552 | MC4R | c.606C>T (p.Phe202=) | |
| 18 | g.60371744G>C | CA402719451 | MC4R | c.606C>G (p.Phe202Leu) | |
| 18 | g.60371744G= | CA2307359112 | MC4R | c.606C= (p.Phe202=) | |
| 18 | g.60371744G>T | CA214142 | MC4R | c.606C>A (p.Phe202Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371745A>C | CA402719452 | MC4R | c.605T>G (p.Phe202Cys) | |
| 18 | g.60371745A>G | CA402719454 | MC4R | c.605T>C (p.Phe202Ser) | |
| 18 | g.60371745A>T | CA402719453 | MC4R | c.605T>A (p.Phe202Tyr) | |
| 18 | g.60371746A>C | CA402719455 | MC4R | c.604T>G (p.Phe202Val) | |
| 18 | g.60371746A>G | CA402719456 | MC4R | c.604T>C (p.Phe202Leu) | |
| 18 | g.60371746A>T | CA402719457 | MC4R | c.604T>A (p.Phe202Ile) | |
| 18 | g.60371747G>A | CA504305556 | MC4R | c.603C>T (p.Phe201=) | dbSNP |
| 18 | g.60371747G>C | CA402719458 | MC4R | c.603C>G (p.Phe201Leu) | |
| 18 | g.60371747G= | CA2307359113 | MC4R | c.603C= (p.Phe201=) | |
| 18 | g.60371747G>T | CA8980883 | MC4R | c.603C>A (p.Phe201Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371748A>C | CA402719459 | MC4R | c.602T>G (p.Phe201Cys) | |
| 18 | g.60371748A>G | CA402719460 | MC4R | c.602T>C (p.Phe201Ser) | |
| 18 | g.60371748A>T | CA402719461 | MC4R | c.602T>A (p.Phe201Tyr) | |
| 18 | g.60371749A>C | CA402719462 | MC4R | c.601T>G (p.Phe201Val) | |
| 18 | g.60371749A>G | CA402719463 | MC4R | c.601T>C (p.Phe201Leu) | |
| 18 | g.60371749A>T | CA402719464 | MC4R | c.601T>A (p.Phe201Ile) | |
| 18 | g.60371750C>A | CA402719465 | MC4R | c.600G>T (p.Met200Ile) | |
| 18 | g.60371750C>G | CA402719467 | MC4R | c.600G>C (p.Met200Ile) | |
| 18 | g.60371750C>T | CA402719466 | MC4R | c.600G>A (p.Met200Ile) | |
| 18 | g.60371750_60371752del | CA2695227734 | MC4R | c.598_600del (p.Met200del) | |
| 18 | g.60371751A= | CA2307359114 | MC4R | c.599T= (p.Met200=) | |
| 18 | g.60371751A>C | CA402719468 | MC4R | c.599T>G (p.Met200Arg) | |
| 18 | g.60371751A>G | CA402719469 | MC4R | c.599T>C (p.Met200Thr) | dbSNP gnomAD v4 |
| 18 | g.60371751A>T | CA402719470 | MC4R | c.599T>A (p.Met200Lys) | |
| 18 | g.60371751_60371753del | CA2642029299 | MC4R | c.597_599del (p.Met200del) | gnomAD v4 |
| 18 | g.60371752T>A | CA402719471 | MC4R | c.598A>T (p.Met200Leu) | |
| 18 | g.60371752T>C | CA8980884 | MC4R | c.598A>G (p.Met200Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371752T>G | CA402719472 | MC4R | c.598A>C (p.Met200Leu) | |
| 18 | g.60371752T= | CA2307359115 | MC4R | c.598A= (p.Met200=) | |
| 18 | g.60371753G>A | CA504305560 | MC4R | c.597C>T (p.Thr199=) | |
| 18 | g.60371753G>C | CA504305558 | MC4R | c.597C>G (p.Thr199=) | |
| 18 | g.60371753G>T | CA504305559 | MC4R | c.597C>A (p.Thr199=) | |
| 18 | g.60371754G>A | CA402719473 | MC4R | c.596C>T (p.Thr199Ile) | |
| 18 | g.60371754G>C | CA402719474 | MC4R | c.596C>G (p.Thr199Ser) | |
| 18 | g.60371754G>T | CA402719475 | MC4R | c.596C>A (p.Thr199Asn) | |
| 18 | g.60371755T>A | CA402719477 | MC4R | c.595A>T (p.Thr199Ser) | |
| 18 | g.60371755T>C | CA402719478 | MC4R | c.595A>G (p.Thr199Ala) | |
| 18 | g.60371755T>G | CA402719476 | MC4R | c.595A>C (p.Thr199Pro) | |
| 18 | g.60371756G>A | CA8980885 | MC4R | c.594C>T (p.Ile198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371756G>C | CA402719479 | MC4R | c.594C>G (p.Ile198Met) | |
| 18 | g.60371756G= | CA2307359116 | MC4R | c.594C= (p.Ile198=) | |
| 18 | g.60371756G>T | CA504305561 | MC4R | c.594C>A (p.Ile198=) | |
| 18 | g.60371757A= | CA2307359117 | MC4R | c.593T= (p.Ile198=) | |
| 18 | g.60371757A>C | CA402719480 | MC4R | c.593T>G (p.Ile198Ser) | |
| 18 | g.60371757A>G | CA8980886 | MC4R | c.593T>C (p.Ile198Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371757A>T | CA301530029 | MC4R | c.593T>A (p.Ile198Asn) | dbSNP |
| 18 | g.60371758T>A | CA402719481 | MC4R | c.592A>T (p.Ile198Phe) | |
| 18 | g.60371758T>C | CA402719482 | MC4R | c.592A>G (p.Ile198Val) | dbSNP gnomAD v4 |
| 18 | g.60371758T>G | CA402719483 | MC4R | c.592A>C (p.Ile198Leu) | |
| 18 | g.60371758T= | CA2307359118 | MC4R | c.592A= (p.Ile198=) | |
| 18 | g.60371759G>A | CA8980887 | MC4R | c.591C>T (p.Leu197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371759G>C | CA504305563 | MC4R | c.591C>G (p.Leu197=) | |
| 18 | g.60371759G= | CA2307359119 | MC4R | c.591C= (p.Leu197=) | |
| 18 | g.60371759G>T | CA504305564 | MC4R | c.591C>A (p.Leu197=) | |
| 18 | g.60371760A>C | CA402719484 | MC4R | c.590T>G (p.Leu197Arg) | |
| 18 | g.60371760A>G | CA402719485 | MC4R | c.590T>C (p.Leu197Pro) | |
| 18 | g.60371760A>T | CA402719486 | MC4R | c.590T>A (p.Leu197His) | |
| 18 | g.60371761G>A | CA402719489 | MC4R | c.589C>T (p.Leu197Phe) | gnomAD v4 |
| 18 | g.60371761G>C | CA402719487 | MC4R | c.589C>G (p.Leu197Val) | |
| 18 | g.60371761G>T | CA402719488 | MC4R | c.589C>A (p.Leu197Ile) | |
| 18 | g.60371762G>A | CA504305566 | MC4R | c.588C>T (p.Cys196=) | |
| 18 | g.60371762G>C | CA402719490 | MC4R | c.588C>G (p.Cys196Trp) | |
| 18 | g.60371762G>T | CA402719491 | MC4R | c.588C>A (p.Cys196Ter) | COSMIC |
| 18 | g.60371763C>A | CA402719492 | MC4R | c.587G>T (p.Cys196Phe) | |
| 18 | g.60371763C= | CA2307359120 | MC4R | c.587G= (p.Cys196=) | |
| 18 | g.60371763C>G | CA402719493 | MC4R | c.587G>C (p.Cys196Ser) | |
| 18 | g.60371763C>T | CA402719494 | MC4R | c.587G>A (p.Cys196Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371764A>C | CA402719495 | MC4R | c.586T>G (p.Cys196Gly) | |
| 18 | g.60371764A>G | CA402719496 | MC4R | c.586T>C (p.Cys196Arg) | |
| 18 | g.60371764A>T | CA402719497 | MC4R | c.586T>A (p.Cys196Ser) | |
| 18 | g.60371765G>A | CA504305569 | MC4R | c.585C>T (p.Ile195=) | |
| 18 | g.60371765G>C | CA402719498 | MC4R | c.585C>G (p.Ile195Met) | ClinVar dbSNP |
| 18 | g.60371765G= | CA2307359121 | MC4R | c.585C= (p.Ile195=) | |
| 18 | g.60371765G>T | CA504305571 | MC4R | c.585C>A (p.Ile195=) | |
| 18 | g.60371766A= | CA2307359122 | MC4R | c.584T= (p.Ile195=) | |
| 18 | g.60371766A>C | CA8980888 | MC4R | c.584T>G (p.Ile195Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371766A>G | CA301530030 | MC4R | c.584T>C (p.Ile195Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371766A>T | CA402719499 | MC4R | c.584T>A (p.Ile195Asn) | |
| 18 | g.60371767T>A | CA402719501 | MC4R | c.583A>T (p.Ile195Phe) | |
| 18 | g.60371767T>C | CA8980889 | MC4R | c.583A>G (p.Ile195Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371767T>G | CA402719500 | MC4R | c.583A>C (p.Ile195Leu) | |
| 18 | g.60371767T= | CA2307359123 | MC4R | c.583A= (p.Ile195=) | |
| 18 | g.60371768G>A | CA504305573 | MC4R | c.582C>T (p.Ile194=) | |
| 18 | g.60371768G>C | CA402719502 | MC4R | c.582C>G (p.Ile194Met) | |
| 18 | g.60371768G>T | CA504305574 | MC4R | c.582C>A (p.Ile194=) | |
| 18 | g.60371769A>C | CA402719503 | MC4R | c.581T>G (p.Ile194Ser) | |
| 18 | g.60371769A>G | CA402719504 | MC4R | c.581T>C (p.Ile194Thr) | |
| 18 | g.60371769A>T | CA402719505 | MC4R | c.581T>A (p.Ile194Asn) | |
| 18 | g.60371770T>A | CA402719506 | MC4R | c.580A>T (p.Ile194Phe) | |
| 18 | g.60371770T>C | CA402719507 | MC4R | c.580A>G (p.Ile194Val) | |
| 18 | g.60371770T>G | CA402719508 | MC4R | c.580A>C (p.Ile194Leu) | |
| 18 | g.60371771G>A | CA504305576 | MC4R | c.579C>T (p.Val193=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371771G>C | CA504305578 | MC4R | c.579C>G (p.Val193=) | |
| 18 | g.60371771G= | CA2307359124 | MC4R | c.579C= (p.Val193=) | |
| 18 | g.60371771G>T | CA504305580 | MC4R | c.579C>A (p.Val193=) | |
| 18 | g.60371772A>C | CA402719509 | MC4R | c.578T>G (p.Val193Gly) | |
| 18 | g.60371772A>G | CA402719510 | MC4R | c.578T>C (p.Val193Ala) | |
| 18 | g.60371772A>T | CA402719511 | MC4R | c.578T>A (p.Val193Asp) | |
| 18 | g.60371773C>A | CA402719512 | MC4R | c.577G>T (p.Val193Phe) | |
| 18 | g.60371773C= | CA2307359125 | MC4R | c.577G= (p.Val193=) | |
| 18 | g.60371773C>G | CA402719513 | MC4R | c.577G>C (p.Val193Leu) | |
| 18 | g.60371773C>T | CA402719514 | MC4R | c.577G>A (p.Val193Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371774A>C | CA504305584 | MC4R | c.576T>G (p.Ala192=) | |
| 18 | g.60371774A>G | CA504305582 | MC4R | c.576T>C (p.Ala192=) | |
| 18 | g.60371774A>T | CA504305583 | MC4R | c.576T>A (p.Ala192=) | gnomAD v4 |
| 18 | g.60371775G>A | CA402719517 | MC4R | c.575C>T (p.Ala192Val) | |
| 18 | g.60371775G>C | CA402719516 | MC4R | c.575C>G (p.Ala192Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371775G= | CA2307359126 | MC4R | c.575C= (p.Ala192=) | |
| 18 | g.60371775G>T | CA402719515 | MC4R | c.575C>A (p.Ala192Asp) | |
| 18 | g.60371776C>A | CA402719518 | MC4R | c.574G>T (p.Ala192Ser) | |
| 18 | g.60371776C>G | CA402719519 | MC4R | c.574G>C (p.Ala192Pro) | |
| 18 | g.60371776C>T | CA402719520 | MC4R | c.574G>A (p.Ala192Thr) | |
| 18 | g.60371776_60371779delinsCACT | CA2307359127 | MC4R | c.571_574delinsAGTG (p.Ser191=) | |
| 18 | g.60371777A= | CA2307359128 | MC4R | c.573T= (p.Ser191=) | |
| 18 | g.60371777A>C | CA402719521 | MC4R | c.573T>G (p.Ser191Arg) | |
| 18 | g.60371777A>G | CA8980890 | MC4R | c.573T>C (p.Ser191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371777A>T | CA402719522 | MC4R | c.573T>A (p.Ser191Arg) | |
| 18 | g.60371781_60371783del | CA504305587 | MC4R | c.571_573del (p.Ser191del) | dbSNP |
| 18 | g.60371778C>A | CA402719523 | MC4R | c.572G>T (p.Ser191Ile) | |
| 18 | g.60371778C= | CA2307359129 | MC4R | c.572G= (p.Ser191=) | |
| 18 | g.60371778C>G | CA402719524 | MC4R | c.572G>C (p.Ser191Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371778C>T | CA402719525 | MC4R | c.572G>A (p.Ser191Asn) | |
| 18 | g.60371779T>A | CA402719526 | MC4R | c.571A>T (p.Ser191Cys) | |
| 18 | g.60371779T>C | CA402719527 | MC4R | c.571A>G (p.Ser191Gly) | |
| 18 | g.60371779T>G | CA402719528 | MC4R | c.571A>C (p.Ser191Arg) | |
| 18 | g.60371780A= | CA2307359130 | MC4R | c.570T= (p.Ser190=) | |
| 18 | g.60371780A>C | CA402719530 | MC4R | c.570T>G (p.Ser190Arg) | |
| 18 | g.60371780A>G | CA8980891 | MC4R | c.570T>C (p.Ser190=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371780A>T | CA402719529 | MC4R | c.570T>A (p.Ser190Arg) | |
| 18 | g.60371781C>A | CA402719531 | MC4R | c.569G>T (p.Ser190Ile) | |
| 18 | g.60371781C= | CA2307359131 | MC4R | c.569G= (p.Ser190=) | |
| 18 | g.60371781C>G | CA402719532 | MC4R | c.569G>C (p.Ser190Thr) | |
| 18 | g.60371781C>T | CA402719533 | MC4R | c.569G>A (p.Ser190Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371782T>A | CA402719534 | MC4R | c.568A>T (p.Ser190Cys) | |
| 18 | g.60371782T>C | CA8980892 | MC4R | c.568A>G (p.Ser190Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371782T>G | CA402719535 | MC4R | c.568A>C (p.Ser190Arg) | |
| 18 | g.60371782T= | CA2307359132 | MC4R | c.568A= (p.Ser190=) | |
| 18 | g.60371783A= | CA2307359133 | MC4R | c.567T= (p.Asp189=) | |
| 18 | g.60371783A>C | CA402719536 | MC4R | c.567T>G (p.Asp189Glu) | |
| 18 | g.60371783A>G | CA8980893 | MC4R | c.567T>C (p.Asp189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371783A>T | CA402719537 | MC4R | c.567T>A (p.Asp189Glu) | |
| 18 | g.60371784T>A | CA402719538 | MC4R | c.566A>T (p.Asp189Val) | |
| 18 | g.60371784T>C | CA402719539 | MC4R | c.566A>G (p.Asp189Gly) | |
| 18 | g.60371784T>G | CA402719540 | MC4R | c.566A>C (p.Asp189Ala) | |
| 18 | g.60371785C>A | CA402719542 | MC4R | c.565G>T (p.Asp189Tyr) | |
| 18 | g.60371785C>G | CA402719543 | MC4R | c.565G>C (p.Asp189His) | |
| 18 | g.60371785C>T | CA402719541 | MC4R | c.565G>A (p.Asp189Asn) | gnomAD v4 COSMIC |
| 18 | g.60371786T>A | CA504305592 | MC4R | c.564A>T (p.Ser188=) | |
| 18 | g.60371786T>C | CA504305595 | MC4R | c.564A>G (p.Ser188=) | |
| 18 | g.60371786T>G | CA504305593 | MC4R | c.564A>C (p.Ser188=) | |
| 18 | g.60371787G>A | CA8980894 | MC4R | c.563C>T (p.Ser188Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371787G>C | CA402719544 | MC4R | c.563C>G (p.Ser188Ter) | |
| 18 | g.60371787G= | CA2307359134 | MC4R | c.563C= (p.Ser188=) | |
| 18 | g.60371787G>T | CA402719545 | MC4R | c.563C>A (p.Ser188Ter) | |
| 18 | g.60371788A>C | CA402719546 | MC4R | c.562T>G (p.Ser188Ala) | gnomAD v4 |
| 18 | g.60371788A>G | CA402719547 | MC4R | c.562T>C (p.Ser188Pro) | |
| 18 | g.60371788A>T | CA402719548 | MC4R | c.562T>A (p.Ser188Thr) | |
| 18 | g.60371789G>A | CA504305598 | MC4R | c.561C>T (p.Tyr187=) | |
| 18 | g.60371789G>C | CA402719549 | MC4R | c.561C>G (p.Tyr187Ter) | dbSNP |
| 18 | g.60371789G= | CA2307359135 | MC4R | c.561C= (p.Tyr187=) | |
| 18 | g.60371789G>T | CA402719550 | MC4R | c.561C>A (p.Tyr187Ter) | |
| 18 | g.60371790T>A | CA402719551 | MC4R | c.560A>T (p.Tyr187Phe) | |
| 18 | g.60371790T>C | CA402719552 | MC4R | c.560A>G (p.Tyr187Cys) | |
| 18 | g.60371790T>G | CA402719553 | MC4R | c.560A>C (p.Tyr187Ser) | |
| 18 | g.60371790_60371791delinsTA | CA2307359136 | MC4R | c.559_560delinsTA (p.Tyr187=) | |
| 18 | g.60371791A>C | CA402719554 | MC4R | c.559T>G (p.Tyr187Asp) | |
| 18 | g.60371791A>G | CA402719555 | MC4R | c.559T>C (p.Tyr187His) | |
| 18 | g.60371791A>T | CA402719556 | MC4R | c.559T>A (p.Tyr187Asn) | |
| 18 | g.60371793del | CA630399156 | MC4R | c.559del (p.Tyr187ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.60371792A>C | CA402719557 | MC4R | c.558T>G (p.Ile186Met) | |
| 18 | g.60371792A>G | CA504305604 | MC4R | c.558T>C (p.Ile186=) | gnomAD v4 |
| 18 | g.60371792A>T | CA504305605 | MC4R | c.558T>A (p.Ile186=) | |
| 18 | g.60371793A>C | CA402719559 | MC4R | c.557T>G (p.Ile186Ser) | |
| 18 | g.60371793A>G | CA402719558 | MC4R | c.557T>C (p.Ile186Thr) | |
| 18 | g.60371793A>T | CA402719560 | MC4R | c.557T>A (p.Ile186Asn) | |
| 18 | g.60371797_60371799del | CA2642029300 | MC4R | c.555_557del (p.Ile186del) | gnomAD v4 |
| 18 | g.60371794T>A | CA402719561 | MC4R | c.556A>T (p.Ile186Phe) | |
| 18 | g.60371794T>C | CA402719563 | MC4R | c.556A>G (p.Ile186Val) | gnomAD v4 |
| 18 | g.60371794T>G | CA402719562 | MC4R | c.556A>C (p.Ile186Leu) | |
| 18 | g.60371795G>A | CA504305608 | MC4R | c.555C>T (p.Ile185=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.60371795G>C | CA402719564 | MC4R | c.555C>G (p.Ile185Met) | |
| 18 | g.60371795G= | CA2307359137 | MC4R | c.555C= (p.Ile185=) | |
| 18 | g.60371795G>T | CA504305607 | MC4R | c.555C>A (p.Ile185=) | |
| 18 | g.60371796A>C | CA402719565 | MC4R | c.554T>G (p.Ile185Ser) | |
| 18 | g.60371796A>G | CA402719566 | MC4R | c.554T>C (p.Ile185Thr) | |
| 18 | g.60371796A>T | CA402719567 | MC4R | c.554T>A (p.Ile185Asn) | |
| 18 | g.60371797T>A | CA402719568 | MC4R | c.553A>T (p.Ile185Phe) | |
| 18 | g.60371797T>C | CA8980895 | MC4R | c.553A>G (p.Ile185Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371797T>G | CA402719569 | MC4R | c.553A>C (p.Ile185Leu) | |
| 18 | g.60371797T= | CA2307359138 | MC4R | c.553A= (p.Ile185=) | |
| 18 | g.60371798G>A | CA504305236 | MC4R | c.552C>T (p.Phe184=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.60371798G>C | CA402719571 | MC4R | c.552C>G (p.Phe184Leu) | |
| 18 | g.60371798G= | CA2307359139 | MC4R | c.552C= (p.Phe184=) | |
| 18 | g.60371798G>T | CA402719572 | MC4R | c.552C>A (p.Phe184Leu) | dbSNP |
| 18 | g.60371799A>C | CA402719573 | MC4R | c.551T>G (p.Phe184Cys) | |
| 18 | g.60371799A>G | CA402719574 | MC4R | c.551T>C (p.Phe184Ser) | |
| 18 | g.60371799A>T | CA402719575 | MC4R | c.551T>A (p.Phe184Tyr) | |
| 18 | g.60371800A>C | CA402719576 | MC4R | c.550T>G (p.Phe184Val) | |
| 18 | g.60371800A>G | CA402719578 | MC4R | c.550T>C (p.Phe184Leu) | |
| 18 | g.60371800A>T | CA402719577 | MC4R | c.550T>A (p.Phe184Ile) | gnomAD v4 |
| 18 | g.60371801C>A | CA402719579 | MC4R | c.549G>T (p.Leu183Phe) | gnomAD v4 |
| 18 | g.60371801C>G | CA402719580 | MC4R | c.549G>C (p.Leu183Phe) | ClinVar dbSNP |
| 18 | g.60371801C>T | CA504305242 | MC4R | c.549G>A (p.Leu183=) | |
| 18 | g.60371801_60371802delinsCA | CA2307359140 | MC4R | c.548_549delinsTG (p.Leu183=) | |
| 18 | g.60371802A>C | CA402719581 | MC4R | c.548T>G (p.Leu183Trp) | |
| 18 | g.60371802A>G | CA402719582 | MC4R | c.548T>C (p.Leu183Ser) | |
| 18 | g.60371802A>T | CA402719583 | MC4R | c.548T>A (p.Leu183Ter) | |
| 18 | g.60371805del | CA8980896 | MC4R | c.548del (p.Leu183CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.60371803A>C | CA402719584 | MC4R | c.547T>G (p.Leu183Val) | |
| 18 | g.60371803A>G | CA504305252 | MC4R | c.547T>C (p.Leu183=) | |
| 18 | g.60371803A>T | CA402719585 | MC4R | c.547T>A (p.Leu183Met) | |
| 18 | g.60371804A>C | CA402719586 | MC4R | c.546T>G (p.Ile182Met) | gnomAD v4 |
| 18 | g.60371804A>G | CA504305258 | MC4R | c.546T>C (p.Ile182=) | |
| 18 | g.60371804A>T | CA504305259 | MC4R | c.546T>A (p.Ile182=) | |
| 18 | g.60371805A>C | CA402719589 | MC4R | c.545T>G (p.Ile182Ser) | |
| 18 | g.60371805A>G | CA402719588 | MC4R | c.545T>C (p.Ile182Thr) | |
| 18 | g.60371805A>T | CA402719587 | MC4R | c.545T>A (p.Ile182Asn) | |
| 18 | g.60371806T>A | CA402719590 | MC4R | c.544A>T (p.Ile182Phe) | |
| 18 | g.60371806T>C | CA402719591 | MC4R | c.544A>G (p.Ile182Val) | |
| 18 | g.60371806T>G | CA402719592 | MC4R | c.544A>C (p.Ile182Leu) |