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.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) | |
| 18 | g.13885247T>A | CA401995586 | MC2R | c.272A>T (p.Tyr91Phe) | |
| 18 | g.13885247T>C | CA401995587 | MC2R | c.272A>G (p.Tyr91Cys) | |
| 18 | g.13885247T>G | CA401995588 | MC2R | c.272A>C (p.Tyr91Ser) | |
| 18 | g.13885248A>C | CA401995591 | MC2R | c.271T>G (p.Tyr91Asp) | |
| 18 | g.13885248A>G | CA401995590 | MC2R | c.271T>C (p.Tyr91His) | |
| 18 | g.13885248A>T | CA401995589 | MC2R | c.271T>A (p.Tyr91Asn) | |
| 18 | g.13885249G>A | CA503248619 | MC2R | c.270C>T (p.Gly90=) | dbSNP gnomAD v4 |
| 18 | g.13885249G>C | CA503248620 | MC2R | c.270C>G (p.Gly90=) | |
| 18 | g.13885249G= | CA2285919489 | MC2R | c.270C= (p.Gly90=) | |
| 18 | g.13885249G>T | CA503248621 | MC2R | c.270C>A (p.Gly90=) | |
| 18 | g.13885250C>A | CA401995592 | MC2R | c.269G>T (p.Gly90Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885250C= | CA2285919490 | MC2R | c.269G= (p.Gly90=) | |
| 18 | g.13885250C>G | CA8902522 | MC2R | c.269G>C (p.Gly90Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885250C>T | CA401995593 | MC2R | c.269G>A (p.Gly90Asp) | |
| 18 | g.13885251C>A | CA401995594 | MC2R | c.268G>T (p.Gly90Cys) | |
| 18 | g.13885251C= | CA2285919491 | MC2R | c.268G= (p.Gly90=) | |
| 18 | g.13885251C>G | CA401995595 | MC2R | c.268G>C (p.Gly90Arg) | |
| 18 | g.13885251C>T | CA8902523 | MC2R | c.268G>A (p.Gly90Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885252C>A | CA401995596 | MC2R | c.267G>T (p.Met89Ile) | |
| 18 | g.13885252C= | CA2285919492 | MC2R | c.267G= (p.Met89=) | |
| 18 | g.13885252C>G | CA8902524 | MC2R | c.267G>C (p.Met89Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885252C>T | CA401995597 | MC2R | c.267G>A (p.Met89Ile) | |
| 18 | g.13885253A= | CA2285919493 | MC2R | c.266T= (p.Met89=) | |
| 18 | g.13885253A>C | CA401995598 | MC2R | c.266T>G (p.Met89Arg) | gnomAD v4 |
| 18 | g.13885253A>G | CA8902525 | MC2R | c.266T>C (p.Met89Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885253A>T | CA401995599 | MC2R | c.266T>A (p.Met89Lys) | gnomAD v4 |
| 18 | g.13885254T>A | CA401995601 | MC2R | c.265A>T (p.Met89Leu) | |
| 18 | g.13885254T>C | CA296828888 | MC2R | c.265A>G (p.Met89Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885254T>G | CA401995600 | MC2R | c.265A>C (p.Met89Leu) | |
| 18 | g.13885254T= | CA2285919494 | MC2R | c.265A= (p.Met89=) | |
| 18 | g.13885255G>A | CA503248622 | MC2R | c.264C>T (p.Asn88=) | |
| 18 | g.13885255G>C | CA401995602 | MC2R | c.264C>G (p.Asn88Lys) | |
| 18 | g.13885255G>T | CA401995603 | MC2R | c.264C>A (p.Asn88Lys) | |
| 18 | g.13885256T>A | CA401995604 | MC2R | c.263A>T (p.Asn88Ile) | |
| 18 | g.13885256T>C | CA401995605 | MC2R | c.263A>G (p.Asn88Ser) | |
| 18 | g.13885256T>G | CA401995606 | MC2R | c.263A>C (p.Asn88Thr) | |
| 18 | g.13885257T>A | CA401995607 | MC2R | c.262A>T (p.Asn88Tyr) | |
| 18 | g.13885257T>C | CA401995608 | MC2R | c.262A>G (p.Asn88Asp) | |
| 18 | g.13885257T>G | CA401995609 | MC2R | c.262A>C (p.Asn88His) | |
| 18 | g.13885258T>A | CA401995610 | MC2R | c.261A>T (p.Arg87Ser) | gnomAD v4 |
| 18 | g.13885258T>C | CA503248623 | MC2R | c.261A>G (p.Arg87=) | |
| 18 | g.13885258T>G | CA401995611 | MC2R | c.261A>C (p.Arg87Ser) | |
| 18 | g.13885259C>A | CA401995612 | MC2R | c.260G>T (p.Arg87Ile) | |
| 18 | g.13885259C>G | CA401995613 | MC2R | c.260G>C (p.Arg87Thr) | |
| 18 | g.13885259C>T | CA401995614 | MC2R | c.260G>A (p.Arg87Lys) | gnomAD v4 |
| 18 | g.13885260T>A | CA401995615 | MC2R | c.259A>T (p.Arg87Ter) | |
| 18 | g.13885260T>C | CA401995616 | MC2R | c.259A>G (p.Arg87Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885260T>G | CA503248624 | MC2R | c.259A>C (p.Arg87=) | |
| 18 | g.13885260T= | CA2285919495 | MC2R | c.259A= (p.Arg87=) | |
| 18 | g.13885261C>A | CA401995618 | MC2R | c.258G>T (p.Leu86Phe) | COSMIC |
| 18 | g.13885261C>G | CA401995617 | MC2R | c.258G>C (p.Leu86Phe) | |
| 18 | g.13885261C>T | CA503248625 | MC2R | c.258G>A (p.Leu86=) | COSMIC |
| 18 | g.13885262A= | CA2285919496 | MC2R | c.257T= (p.Leu86=) | |
| 18 | g.13885262A>C | CA401995619 | MC2R | c.257T>G (p.Leu86Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885262A>G | CA401995620 | MC2R | c.257T>C (p.Leu86Ser) | |
| 18 | g.13885262A>T | CA401995621 | MC2R | c.257T>A (p.Leu86Ter) | |
| 18 | g.13885263A>C | CA401995622 | MC2R | c.256T>G (p.Leu86Val) | |
| 18 | g.13885263A>G | CA503248627 | MC2R | c.256T>C (p.Leu86=) | |
| 18 | g.13885263A>T | CA401995623 | MC2R | c.256T>A (p.Leu86Met) | |
| 18 | g.13885264T>A | CA503248628 | MC2R | c.255A>T (p.Ile85=) | gnomAD v4 |
| 18 | g.13885264T>C | CA401995624 | MC2R | c.255A>G (p.Ile85Met) | dbSNP gnomAD v2 |
| 18 | g.13885264T>G | CA503248629 | MC2R | c.255A>C (p.Ile85=) | |
| 18 | g.13885264T= | CA2285919497 | MC2R | c.255A= (p.Ile85=) | |
| 18 | g.13885265A= | CA2285919498 | MC2R | c.254T= (p.Ile85=) | |
| 18 | g.13885265A>C | CA401995626 | MC2R | c.254T>G (p.Ile85Arg) | |
| 18 | g.13885265A>G | CA8902526 | MC2R | c.254T>C (p.Ile85Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885265A>T | CA401995625 | MC2R | c.254T>A (p.Ile85Lys) | |
| 18 | g.13885266T>A | CA401995627 | MC2R | c.253A>T (p.Ile85Leu) | |
| 18 | g.13885266T>C | CA401995628 | MC2R | c.253A>G (p.Ile85Val) | |
| 18 | g.13885266T>G | CA401995629 | MC2R | c.253A>C (p.Ile85Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885266T= | CA2285919499 | MC2R | c.253A= (p.Ile85=) | |
| 18 | g.13885267G>A | CA8902527 | MC2R | c.252C>T (p.Ile84=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885267G>C | CA401995630 | MC2R | c.252C>G (p.Ile84Met) | |
| 18 | g.13885267G= | CA2285919500 | MC2R | c.252C= (p.Ile84=) | |
| 18 | g.13885267G>T | CA503248631 | MC2R | c.252C>A (p.Ile84=) | |
| 18 | g.13885268A= | CA2285919501 | MC2R | c.251T= (p.Ile84=) | |
| 18 | g.13885268A>C | CA401995631 | MC2R | c.251T>G (p.Ile84Ser) | |
| 18 | g.13885268A>G | CA401995633 | MC2R | c.251T>C (p.Ile84Thr) | |
| 18 | g.13885268A>T | CA401995632 | MC2R | c.251T>A (p.Ile84Asn) | dbSNP |
| 18 | g.13885269T>A | CA401995634 | MC2R | c.250A>T (p.Ile84Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885269T>C | CA401995635 | MC2R | c.250A>G (p.Ile84Val) | |
| 18 | g.13885269T>G | CA401995636 | MC2R | c.250A>C (p.Ile84Leu) | gnomAD v4 |
| 18 | g.13885269T= | CA2285919502 | MC2R | c.250A= (p.Ile84=) | |
| 18 | g.13885270C>A | CA503248213 | MC2R | c.249G>T (p.Leu83=) | |
| 18 | g.13885270C>G | CA503248215 | MC2R | c.249G>C (p.Leu83=) | |
| 18 | g.13885270C>T | CA503248216 | MC2R | c.249G>A (p.Leu83=) | |
| 18 | g.13885271A>C | CA401995637 | MC2R | c.248T>G (p.Leu83Arg) | |
| 18 | g.13885271A>G | CA401995638 | MC2R | c.248T>C (p.Leu83Pro) | |
| 18 | g.13885271A>T | CA401995639 | MC2R | c.248T>A (p.Leu83Gln) | COSMIC |
| 18 | g.13885272G>A | CA503248223 | MC2R | c.247C>T (p.Leu83=) | gnomAD v4 |
| 18 | g.13885272G>C | CA8902528 | MC2R | c.247C>G (p.Leu83Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885272G= | CA2285919503 | MC2R | c.247C= (p.Leu83=) | |
| 18 | g.13885272G>T | CA401995640 | MC2R | c.247C>A (p.Leu83Met) | COSMIC |
| 18 | g.13885273G>A | CA503248224 | MC2R | c.246C>T (p.Ile82=) | |
| 18 | g.13885273G>C | CA401995641 | MC2R | c.246C>G (p.Ile82Met) | COSMIC |
| 18 | g.13885273G= | CA2285919504 | MC2R | c.246C= (p.Ile82=) | |
| 18 | g.13885273G>T | CA503248225 | MC2R | c.246C>A (p.Ile82=) | dbSNP |
| 18 | g.13885274A>C | CA401995642 | MC2R | c.245T>G (p.Ile82Ser) | |
| 18 | g.13885274A>G | CA401995643 | MC2R | c.245T>C (p.Ile82Thr) | |
| 18 | g.13885274A>T | CA401995644 | MC2R | c.245T>A (p.Ile82Asn) | |
| 18 | g.13885275T>A | CA401995646 | MC2R | c.244A>T (p.Ile82Phe) | |
| 18 | g.13885275T>C | CA401995647 | MC2R | c.244A>G (p.Ile82Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885275T>G | CA401995645 | MC2R | c.244A>C (p.Ile82Leu) | |
| 18 | g.13885275T= | CA2285919505 | MC2R | c.244A= (p.Ile82=) | |
| 18 | g.13885276del | CA2695227238 | MC2R | c.243del (p.Asn81LysfsTer3) | |
| 18 | g.13885276A>C | CA401995648 | MC2R | c.243T>G (p.Asn81Lys) | |
| 18 | g.13885276A>G | CA503248229 | MC2R | c.243T>C (p.Asn81=) | |
| 18 | g.13885276A>T | CA401995649 | MC2R | c.243T>A (p.Asn81Lys) | |
| 18 | g.13885277T>A | CA401995650 | MC2R | c.242A>T (p.Asn81Ile) | |
| 18 | g.13885277T>C | CA401995651 | MC2R | c.242A>G (p.Asn81Ser) | |
| 18 | g.13885277T>G | CA401995652 | MC2R | c.242A>C (p.Asn81Thr) | |
| 18 | g.13885280del | CA2641148023 | MC2R | c.242del (p.Asn81IlefsTer3) | gnomAD v4 |
| 18 | g.13885278T>A | CA8902529 | MC2R | c.241A>T (p.Asn81Tyr) | dbSNP ExAC gnomAD v2 |
| 18 | g.13885278T>C | CA401995653 | MC2R | c.241A>G (p.Asn81Asp) | dbSNP gnomAD v4 |
| 18 | g.13885278T>G | CA401995654 | MC2R | c.241A>C (p.Asn81His) | |
| 18 | g.13885278T= | CA2285919506 | MC2R | c.241A= (p.Asn81=) | |
| 18 | g.13885279T>A | CA401995655 | MC2R | c.240A>T (p.Glu80Asp) | |
| 18 | g.13885279T>C | CA503248232 | MC2R | c.240A>G (p.Glu80=) | |
| 18 | g.13885279T>G | CA401995656 | MC2R | c.240A>C (p.Glu80Asp) | |
| 18 | g.13885280T>A | CA401995657 | MC2R | c.239A>T (p.Glu80Val) | |
| 18 | g.13885280T>C | CA401995658 | MC2R | c.239A>G (p.Glu80Gly) | |
| 18 | g.13885280T>G | CA401995659 | MC2R | c.239A>C (p.Glu80Ala) | |
| 18 | g.13885281C>A | CA401995660 | MC2R | c.238G>T (p.Glu80Ter) | |
| 18 | g.13885281C= | CA2285919507 | MC2R | c.238G= (p.Glu80=) | |
| 18 | g.13885281C>G | CA401995662 | MC2R | c.238G>C (p.Glu80Gln) | |
| 18 | g.13885281C>T | CA401995661 | MC2R | c.238G>A (p.Glu80Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885282C>A | CA401995663 | MC2R | c.237G>T (p.Leu79Phe) | |
| 18 | g.13885282C= | CA2285919508 | MC2R | c.237G= (p.Leu79=) | |
| 18 | g.13885282C>G | CA401995664 | MC2R | c.237G>C (p.Leu79Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885282C>T | CA503248236 | MC2R | c.237G>A (p.Leu79=) | gnomAD v4 |
| 18 | g.13885283A>C | CA401995665 | MC2R | c.236T>G (p.Leu79Trp) | |
| 18 | g.13885283A>G | CA401995666 | MC2R | c.236T>C (p.Leu79Ser) | gnomAD v4 |
| 18 | g.13885283A>T | CA401995667 | MC2R | c.236T>A (p.Leu79Ter) | |
| 18 | g.13885284A>C | CA401995668 | MC2R | c.235T>G (p.Leu79Val) | |
| 18 | g.13885284A>G | CA503248241 | MC2R | c.235T>C (p.Leu79=) | gnomAD v4 |
| 18 | g.13885284A>T | CA401995669 | MC2R | c.235T>A (p.Leu79Met) | |
| 18 | g.13885285G>A | CA503248244 | MC2R | c.234C>T (p.Ile78=) | gnomAD v4 |
| 18 | g.13885285G>C | CA401995670 | MC2R | c.234C>G (p.Ile78Met) | |
| 18 | g.13885285G>T | CA503248245 | MC2R | c.234C>A (p.Ile78=) | gnomAD v4 COSMIC |
| 18 | g.13885286A= | CA2285919509 | MC2R | c.233T= (p.Ile78=) | |
| 18 | g.13885286A>C | CA401995671 | MC2R | c.233T>G (p.Ile78Ser) | |
| 18 | g.13885286A>G | CA401995672 | MC2R | c.233T>C (p.Ile78Thr) | |
| 18 | g.13885286A>T | CA401995673 | MC2R | c.233T>A (p.Ile78Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885287T>A | CA401995674 | MC2R | c.232A>T (p.Ile78Phe) | |
| 18 | g.13885287T>C | CA401995675 | MC2R | c.232A>G (p.Ile78Val) | |
| 18 | g.13885287T>G | CA401995676 | MC2R | c.232A>C (p.Ile78Leu) | |
| 18 | g.13885288C>A | CA401995677 | MC2R | c.231G>T (p.Lys77Asn) | |
| 18 | g.13885288C= | CA2285919510 | MC2R | c.231G= (p.Lys77=) | |
| 18 | g.13885288C>G | CA401995678 | MC2R | c.231G>C (p.Lys77Asn) | |
| 18 | g.13885288C>T | CA503248247 | MC2R | c.231G>A (p.Lys77=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885289T>A | CA401995679 | MC2R | c.230A>T (p.Lys77Met) | |
| 18 | g.13885289T>C | CA401995680 | MC2R | c.230A>G (p.Lys77Arg) | |
| 18 | g.13885289T>G | CA401995681 | MC2R | c.230A>C (p.Lys77Thr) | |
| 18 | g.13885290T>A | CA401995682 | MC2R | c.229A>T (p.Lys77Ter) | |
| 18 | g.13885290T>C | CA401995683 | MC2R | c.229A>G (p.Lys77Glu) | |
| 18 | g.13885290T>G | CA401995684 | MC2R | c.229A>C (p.Lys77Gln) | |
| 18 | g.13885291A>C | CA401995685 | MC2R | c.228T>G (p.Tyr76Ter) | |
| 18 | g.13885291A>G | CA503248252 | MC2R | c.228T>C (p.Tyr76=) | |
| 18 | g.13885291A>T | CA401995686 | MC2R | c.228T>A (p.Tyr76Ter) | |
| 18 | g.13885292T>A | CA401995687 | MC2R | c.227A>T (p.Tyr76Phe) | |
| 18 | g.13885292T>C | CA401995688 | MC2R | c.227A>G (p.Tyr76Cys) | gnomAD v4 |
| 18 | g.13885292T>G | CA401995689 | MC2R | c.227A>C (p.Tyr76Ser) | |
| 18 | g.13885293A>C | CA401995691 | MC2R | c.226T>G (p.Tyr76Asp) | |
| 18 | g.13885293A>G | CA401995692 | MC2R | c.226T>C (p.Tyr76His) | gnomAD v4 |
| 18 | g.13885293A>T | CA401995690 | MC2R | c.226T>A (p.Tyr76Asn) | |
| 18 | g.13885294T>A | CA503248259 | MC2R | c.225A>T (p.Leu75=) | gnomAD v4 |
| 18 | g.13885294T>C | CA503248260 | MC2R | c.225A>G (p.Leu75=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885294T>G | CA503248261 | MC2R | c.225A>C (p.Leu75=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885294T= | CA2285919511 | MC2R | c.225A= (p.Leu75=) | |
| 18 | g.13885295A>C | CA401995693 | MC2R | c.224T>G (p.Leu75Arg) | |
| 18 | g.13885295A>G | CA401995694 | MC2R | c.224T>C (p.Leu75Pro) | |
| 18 | g.13885295A>T | CA401995695 | MC2R | c.224T>A (p.Leu75Gln) | |
| 18 | g.13885296G>A | CA503248262 | MC2R | c.223C>T (p.Leu75=) | gnomAD v4 |
| 18 | g.13885296G>C | CA401995696 | MC2R | c.223C>G (p.Leu75Val) | |
| 18 | g.13885296G>T | CA401995697 | MC2R | c.223C>A (p.Leu75Ile) | |
| 18 | g.13885297G>A | CA503248264 | MC2R | c.222C>T (p.Ser74=) | |
| 18 | g.13885297G>C | CA401995698 | MC2R | c.222C>G (p.Ser74Arg) | |
| 18 | g.13885297G>T | CA401995699 | MC2R | c.222C>A (p.Ser74Arg) | |
| 18 | g.13885298C>A | CA116116 | MC2R | c.221G>T (p.Ser74Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885298C= | CA2285919512 | MC2R | c.221G= (p.Ser74=) | |
| 18 | g.13885298C>G | CA401995700 | MC2R | c.221G>C (p.Ser74Thr) | |
| 18 | g.13885298C>T | CA401995701 | MC2R | c.221G>A (p.Ser74Asn) | |
| 18 | g.13885299T>A | CA401995702 | MC2R | c.220A>T (p.Ser74Cys) | |
| 18 | g.13885299T>C | CA401995703 | MC2R | c.220A>G (p.Ser74Gly) | |
| 18 | g.13885299T>G | CA401995704 | MC2R | c.220A>C (p.Ser74Arg) | |
| 18 | g.13885300G>A | CA503248269 | MC2R | c.219C>T (p.Gly73=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885300G>C | CA503248271 | MC2R | c.219C>G (p.Gly73=) | |
| 18 | g.13885300G= | CA2285919513 | MC2R | c.219C= (p.Gly73=) | |
| 18 | g.13885300G>T | CA503248270 | MC2R | c.219C>A (p.Gly73=) | gnomAD v4 |
| 18 | g.13885301C>A | CA401995707 | MC2R | c.218G>T (p.Gly73Val) | |
| 18 | g.13885301C= | CA2285919514 | MC2R | c.218G= (p.Gly73=) | |
| 18 | g.13885301C>G | CA401995706 | MC2R | c.218G>C (p.Gly73Ala) | |
| 18 | g.13885301C>T | CA401995705 | MC2R | c.218G>A (p.Gly73Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885302C>A | CA401995708 | MC2R | c.217G>T (p.Gly73Cys) | |
| 18 | g.13885302C>G | CA401995709 | MC2R | c.217G>C (p.Gly73Arg) | |
| 18 | g.13885302C>T | CA401995710 | MC2R | c.217G>A (p.Gly73Ser) | |
| 18 | g.13885303C>A | CA503248277 | MC2R | c.216G>T (p.Leu72=) | |
| 18 | g.13885303C= | CA2285919515 | MC2R | c.216G= (p.Leu72=) | |
| 18 | g.13885303C>G | CA503248278 | MC2R | c.216G>C (p.Leu72=) | |
| 18 | g.13885303C>T | CA503248279 | MC2R | c.216G>A (p.Leu72=) | dbSNP gnomAD v4 |
| 18 | g.13885304A>C | CA401995711 | MC2R | c.215T>G (p.Leu72Arg) | |
| 18 | g.13885304A>G | CA401995712 | MC2R | c.215T>C (p.Leu72Pro) | |
| 18 | g.13885304A>T | CA401995713 | MC2R | c.215T>A (p.Leu72Gln) | |
| 18 | g.13885305G>A | CA8902530 | MC2R | c.214C>T (p.Leu72=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885305G>C | CA401995714 | MC2R | c.214C>G (p.Leu72Val) | |
| 18 | g.13885305G= | CA2285919516 | MC2R | c.214C= (p.Leu72=) | |
| 18 | g.13885305G>T | CA401995715 | MC2R | c.214C>A (p.Leu72Met) | |
| 18 | g.13885306C>A | CA401995716 | MC2R | c.213G>T (p.Met71Ile) | gnomAD v4 |
| 18 | g.13885306C= | CA2285919517 | MC2R | c.213G= (p.Met71=) | |
| 18 | g.13885306C>G | CA401995717 | MC2R | c.213G>C (p.Met71Ile) | |
| 18 | g.13885306C>T | CA401995718 | MC2R | c.213G>A (p.Met71Ile) | dbSNP |
| 18 | g.13885307A>C | CA401995721 | MC2R | c.212T>G (p.Met71Arg) | |
| 18 | g.13885307A>G | CA401995720 | MC2R | c.212T>C (p.Met71Thr) | gnomAD v4 |
| 18 | g.13885307A>T | CA401995719 | MC2R | c.212T>A (p.Met71Lys) | |
| 18 | g.13885308T>A | CA401995722 | MC2R | c.211A>T (p.Met71Leu) | |
| 18 | g.13885308T>C | CA401995724 | MC2R | c.211A>G (p.Met71Val) | |
| 18 | g.13885308T>G | CA401995723 | MC2R | c.211A>C (p.Met71Leu) | dbSNP gnomAD v4 |
| 18 | g.13885308T= | CA2285919518 | MC2R | c.211A= (p.Met71=) | |
| 18 | g.13885309A>C | CA401995725 | MC2R | c.210T>G (p.Asp70Glu) | |
| 18 | g.13885309A>G | CA503248286 | MC2R | c.210T>C (p.Asp70=) | |
| 18 | g.13885309A>T | CA401995726 | MC2R | c.210T>A (p.Asp70Glu) | |
| 18 | g.13885310T>A | CA401995727 | MC2R | c.209A>T (p.Asp70Val) | |
| 18 | g.13885310T>C | CA401995729 | MC2R | c.209A>G (p.Asp70Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885310T>G | CA401995728 | MC2R | c.209A>C (p.Asp70Ala) | |
| 18 | g.13885310T= | CA2285919519 | MC2R | c.209A= (p.Asp70=) | |
| 18 | g.13885311C>A | CA401995730 | MC2R | c.208G>T (p.Asp70Tyr) | dbSNP |
| 18 | g.13885311C= | CA2285919520 | MC2R | c.208G= (p.Asp70=) | |
| 18 | g.13885311C>G | CA8902531 | MC2R | c.208G>C (p.Asp70His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885311C>T | CA401995731 | MC2R | c.208G>A (p.Asp70Asn) | |
| 18 | g.13885312A= | CA2285919521 | MC2R | c.207T= (p.Ser69=) | |
| 18 | g.13885312A>C | CA503248291 | MC2R | c.207T>G (p.Ser69=) | |
| 18 | g.13885312A>G | CA503248292 | MC2R | c.207T>C (p.Ser69=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885312A>T | CA503248293 | MC2R | c.207T>A (p.Ser69=) |