18 | g.13884606_13884612delinsAAACCAG | CA2285919172 | MC2R | c.*13_*19delinsCTGGTTT (n.*13_*19delinsCTGGTTT)
| |
18 | g.13884607_13884612del | CA2285919173 | MC2R | c.*13_*18del (n.*13_*18del)
| dbSNP |
18 | g.13884612G>A | CA2285919177 | MC2R | c.*13C>T (n.*13C>T)
| dbSNP |
18 | g.13884612G>C | CA2734334612 | MC2R | c.*13C>G (n.*13C>G)
| dbSNP |
18 | g.13884612G= | CA2285919176 | MC2R | c.*13C= (n.*13C=)
| |
18 | g.13884613G>A | CA8902371 | MC2R | c.*12C>T (n.*12C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884613G>C | CA2641150762 | MC2R | c.*12C>G (n.*12C>G)
| gnomAD v4 |
18 | g.13884613G= | CA2285919178 | MC2R | c.*12C= (n.*12C=)
| |
18 | g.13884613G>T | CA8902372 | MC2R | c.*12C>A (n.*12C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884614G>A | CA2576463982 | MC2R | c.*11C>T (n.*11C>T)
| |
18 | g.13884614G>C | CA2501463134 | MC2R | c.*11C>G (n.*11C>G)
| gnomAD v4 |
18 | g.13884614G= | CA2285919179 | MC2R | c.*11C= (n.*11C=)
| |
18 | g.13884614G>T | CA8902373 | MC2R | c.*11C>A (n.*11C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884614_13884615delinsGA | CA2285919180 | MC2R | c.*10_*11delinsTC (n.*10_*11delinsTC)
| |
18 | g.13884615del | CA8902374 | MC2R | c.*10del (n.*10del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884615A= | CA2285919182 | MC2R | c.*10T= (n.*10T=)
| |
18 | g.13884615A>G | CA2285919181 | MC2R | c.*10T>C (n.*10T>C)
| dbSNP gnomAD v4 |
18 | g.13884616T>C | CA8902375 | MC2R | c.*9A>G (n.*9A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884616T= | CA2285919183 | MC2R | c.*9A= (n.*9A=)
| |
18 | g.13884617C= | CA2285919184 | MC2R | c.*8G= (n.*8G=)
| |
18 | g.13884617C>G | CA2285919185 | MC2R | c.*8G>C (n.*8G>C)
| dbSNP |
18 | g.13884617C>T | CA2576463983 | MC2R | c.*8G>A (n.*8G>A)
| |
18 | g.13884619G>A | CA2641150763 | MC2R | c.*6C>T (n.*6C>T)
| gnomAD v4 |
18 | g.13884620C>A | CA2641150764 | MC2R | c.*5G>T (n.*5G>T)
| gnomAD v4 |
18 | g.13884620C>G | CA2576463984 | MC2R | c.*5G>C (n.*5G>C)
| |
18 | g.13884620C>T | CA2841565745 | MC2R | c.*5G>A (n.*5G>A)
| |
18 | g.13884621C= | CA2285919186 | MC2R | c.*4G= (n.*4G=)
| |
18 | g.13884621C>T | CA296828494 | MC2R | c.*4G>A (n.*4G>A)
| dbSNP gnomAD v4 |
18 | g.13884622A>C | CA2641150765 | MC2R | c.*3T>G (n.*3T>G)
| gnomAD v4 |
18 | g.13884622A>G | CA2641150766 | MC2R | c.*3T>C (n.*3T>C)
| gnomAD v4 |
18 | g.13884622A>T | CA2641150767 | MC2R | c.*3T>A (n.*3T>A)
| gnomAD v4 |
18 | g.13884625C>A | CA401993469 | MC2R | c.894G>T (p.Ter298Tyr)
| gnomAD v4 |
18 | g.13884625C= | CA2285919187 | MC2R | c.894G= (p.Ter298=)
| |
18 | g.13884625C>G | CA401993467 | MC2R | c.894G>C (p.Ter298Tyr)
| |
18 | g.13884625C>T | CA8902376 | MC2R | c.894G>A (p.Ter298=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884626T>A | CA401993471 | MC2R | c.893A>T (p.Ter298Leu)
| |
18 | g.13884626T>C | CA401993473 | MC2R | c.893A>G (p.Ter298Trp)
| |
18 | g.13884626T>G | CA401993475 | MC2R | c.893A>C (p.Ter298Ser)
| |
18 | g.13884627A>C | CA401993477 | MC2R | c.892T>G (p.Ter298Glu)
| |
18 | g.13884627A>G | CA401993480 | MC2R | c.892T>C (p.Ter298Gln)
| gnomAD v4 |
18 | g.13884627A>T | CA401993481 | MC2R | c.892T>A (p.Ter298Lys)
| |
18 | g.13884628C>A | CA401993482 | MC2R | c.891G>T (p.Trp297Cys)
| |
18 | g.13884628C>G | CA401993484 | MC2R | c.891G>C (p.Trp297Cys)
| |
18 | g.13884628C>T | CA401993483 | MC2R | c.891G>A (p.Trp297Ter)
| |
18 | g.13884629C>A | CA401993487 | MC2R | c.890G>T (p.Trp297Leu)
| dbSNP |
18 | g.13884629C= | CA2285919188 | MC2R | c.890G= (p.Trp297=)
| |
18 | g.13884629C>G | CA401993489 | MC2R | c.890G>C (p.Trp297Ser)
| |
18 | g.13884629C>T | CA401993490 | MC2R | c.890G>A (p.Trp297Ter)
| gnomAD v4 |
18 | g.13884630A>C | CA401993491 | MC2R | c.889T>G (p.Trp297Gly)
| |
18 | g.13884630A>G | CA401993492 | MC2R | c.889T>C (p.Trp297Arg)
| ClinVar dbSNP |
18 | g.13884630A>T | CA401993494 | MC2R | c.889T>A (p.Trp297Arg)
| |
18 | g.13884631G>A | CA503010646 | MC2R | c.888C>T (p.Tyr296=)
| |
18 | g.13884631G>C | CA401993498 | MC2R | c.888C>G (p.Tyr296Ter)
| |
18 | g.13884631G>T | CA401993497 | MC2R | c.888C>A (p.Tyr296Ter)
| |
18 | g.13884632T>A | CA401993502 | MC2R | c.887A>T (p.Tyr296Phe)
| |
18 | g.13884632T>C | CA8902378 | MC2R | c.887A>G (p.Tyr296Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884632T>G | CA8902377 | MC2R | c.887A>C (p.Tyr296Ser)
| dbSNP ExAC gnomAD v2 |
18 | g.13884632T= | CA2285919189 | MC2R | c.887A= (p.Tyr296=)
| |
18 | g.13884633A>C | CA401993506 | MC2R | c.886T>G (p.Tyr296Asp)
| |
18 | g.13884633A>G | CA401993508 | MC2R | c.886T>C (p.Tyr296His)
| COSMIC |
18 | g.13884633A>T | CA401993510 | MC2R | c.886T>A (p.Tyr296Asn)
| |
18 | g.13884633_13884634delinsAC | CA2285919190 | MC2R | c.885_886delinsGT (p.Arg295=)
| |
18 | g.13884634C>A | CA401993513 | MC2R | c.885G>T (p.Arg295Ser)
| |
18 | g.13884634C= | CA2285919192 | MC2R | c.885G= (p.Arg295=)
| |
18 | g.13884634C>G | CA401993515 | MC2R | c.885G>C (p.Arg295Ser)
| |
18 | g.13884634C>T | CA8902379 | MC2R | c.885G>A (p.Arg295=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884635del | CA2285919191 | MC2R | c.885del (p.Arg295SerfsTer11)
| dbSNP gnomAD v4 |
18 | g.13884635C>A | CA401993516 | MC2R | c.884G>T (p.Arg295Met)
| |
18 | g.13884635C= | CA2285919193 | MC2R | c.884G= (p.Arg295=)
| |
18 | g.13884635C>G | CA401993517 | MC2R | c.884G>C (p.Arg295Thr)
| |
18 | g.13884635C>T | CA8902380 | MC2R | c.884G>A (p.Arg295Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884636T>A | CA401993520 | MC2R | c.883A>T (p.Arg295Trp)
| |
18 | g.13884636T>C | CA401993521 | MC2R | c.883A>G (p.Arg295Gly)
| |
18 | g.13884636T>G | CA503010647 | MC2R | c.883A>C (p.Arg295=)
| |
18 | g.13884637G>A | CA8902381 | MC2R | c.882C>T (p.Ser294=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884637G>C | CA401993524 | MC2R | c.882C>G (p.Ser294Arg)
| dbSNP |
18 | g.13884637G= | CA2285919194 | MC2R | c.882C= (p.Ser294=)
| |
18 | g.13884637G>T | CA401993525 | MC2R | c.882C>A (p.Ser294Arg)
| |
18 | g.13884638C>A | CA401993528 | MC2R | c.881G>T (p.Ser294Ile)
| |
18 | g.13884638C= | CA2285919195 | MC2R | c.881G= (p.Ser294=)
| |
18 | g.13884638C>G | CA401993529 | MC2R | c.881G>C (p.Ser294Thr)
| |
18 | g.13884638C>T | CA8902382 | MC2R | c.881G>A (p.Ser294Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884639T>A | CA401993532 | MC2R | c.880A>T (p.Ser294Cys)
| |
18 | g.13884639T>C | CA401993535 | MC2R | c.880A>G (p.Ser294Gly)
| dbSNP gnomAD v4 |
18 | g.13884639T>G | CA401993533 | MC2R | c.880A>C (p.Ser294Arg)
| |
18 | g.13884639T= | CA2285919196 | MC2R | c.880A= (p.Ser294=)
| |
18 | g.13884640G>A | CA503010648 | MC2R | c.879C>T (p.Cys293=)
| COSMIC |
18 | g.13884640G>C | CA401993536 | MC2R | c.879C>G (p.Cys293Trp)
| |
18 | g.13884640G>T | CA401993538 | MC2R | c.879C>A (p.Cys293Ter)
| |
18 | g.13884641C>A | CA401993540 | MC2R | c.878G>T (p.Cys293Phe)
| |
18 | g.13884641C>G | CA401993541 | MC2R | c.878G>C (p.Cys293Ser)
| |
18 | g.13884641C>T | CA401993543 | MC2R | c.878G>A (p.Cys293Tyr)
| |
18 | g.13884642A>C | CA401993546 | MC2R | c.877T>G (p.Cys293Gly)
| |
18 | g.13884642A>G | CA401993547 | MC2R | c.877T>C (p.Cys293Arg)
| |
18 | g.13884642A>T | CA401993549 | MC2R | c.877T>A (p.Cys293Ser)
| |
18 | g.13884643G>A | CA503010650 | MC2R | c.876C>T (p.Phe292=)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884643G>C | CA401993551 | MC2R | c.876C>G (p.Phe292Leu)
| |
18 | g.13884643G= | CA2285919197 | MC2R | c.876C= (p.Phe292=)
| |
18 | g.13884643G>T | CA401993553 | MC2R | c.876C>A (p.Phe292Leu)
| |
18 | g.13884644A>C | CA401993556 | MC2R | c.875T>G (p.Phe292Cys)
| |
18 | g.13884644A>G | CA401993557 | MC2R | c.875T>C (p.Phe292Ser)
| |
18 | g.13884644A>T | CA401993559 | MC2R | c.875T>A (p.Phe292Tyr)
| |
18 | g.13884645A>C | CA401993562 | MC2R | c.874T>G (p.Phe292Val)
| |
18 | g.13884645A>G | CA401993563 | MC2R | c.874T>C (p.Phe292Leu)
| |
18 | g.13884645A>T | CA401993565 | MC2R | c.874T>A (p.Phe292Ile)
| |
18 | g.13884646del | CA2641150768 | MC2R | c.873del (p.Phe292SerfsTer14)
| gnomAD v4 |
18 | g.13884646G>A | CA503010653 | MC2R | c.873C>T (p.Ile291=)
| |
18 | g.13884646G>C | CA401993568 | MC2R | c.873C>G (p.Ile291Met)
| |
18 | g.13884646G>T | CA503010654 | MC2R | c.873C>A (p.Ile291=)
| COSMIC |
18 | g.13884647A= | CA2285919198 | MC2R | c.872T= (p.Ile291=)
| |
18 | g.13884647A>C | CA401993569 | MC2R | c.872T>G (p.Ile291Ser)
| |
18 | g.13884647A>G | CA401993570 | MC2R | c.872T>C (p.Ile291Thr)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884647A>T | CA8902383 | MC2R | c.872T>A (p.Ile291Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884648T>A | CA401993572 | MC2R | c.871A>T (p.Ile291Phe)
| |
18 | g.13884648T>C | CA401993573 | MC2R | c.871A>G (p.Ile291Val)
| |
18 | g.13884648T>G | CA401993574 | MC2R | c.871A>C (p.Ile291Leu)
| |
18 | g.13884649C>A | CA401993577 | MC2R | c.870G>T (p.Met290Ile)
| |
18 | g.13884649C>G | CA401993578 | MC2R | c.870G>C (p.Met290Ile)
| |
18 | g.13884649C>T | CA401993580 | MC2R | c.870G>A (p.Met290Ile)
| gnomAD v4 |
18 | g.13884650A= | CA2285919199 | MC2R | c.869T= (p.Met290=)
| |
18 | g.13884650A>C | CA401993583 | MC2R | c.869T>G (p.Met290Arg)
| gnomAD v4 |
18 | g.13884650A>G | CA401993585 | MC2R | c.869T>C (p.Met290Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884650A>T | CA401993586 | MC2R | c.869T>A (p.Met290Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884651T>A | CA401993590 | MC2R | c.868A>T (p.Met290Leu)
| gnomAD v4 |
18 | g.13884651T>C | CA8902384 | MC2R | c.868A>G (p.Met290Val)
| dbSNP ExAC gnomAD v2 |
18 | g.13884651T>G | CA401993588 | MC2R | c.868A>C (p.Met290Leu)
| |
18 | g.13884651T= | CA2285919200 | MC2R | c.868A= (p.Met290=)
| |
18 | g.13884652C>A | CA401993591 | MC2R | c.867G>T (p.Lys289Asn)
| |
18 | g.13884652C= | CA2285919201 | MC2R | c.867G= (p.Lys289=)
| |
18 | g.13884652C>G | CA401993593 | MC2R | c.867G>C (p.Lys289Asn)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884652C>T | CA503010658 | MC2R | c.867G>A (p.Lys289=)
| |
18 | g.13884653T>A | CA401993595 | MC2R | c.866A>T (p.Lys289Met)
| |
18 | g.13884653T>C | CA401993597 | MC2R | c.866A>G (p.Lys289Arg)
| gnomAD v4 |
18 | g.13884653T>G | CA401993599 | MC2R | c.866A>C (p.Lys289Thr)
| |
18 | g.13884657dup | CA2695227237 | MC2R | c.866dup (p.Met290AspfsTer?)
| |
18 | g.13884654T>A | CA401993602 | MC2R | c.865A>T (p.Lys289Ter)
| |
18 | g.13884654T>C | CA401993604 | MC2R | c.865A>G (p.Lys289Glu)
| |
18 | g.13884654T>G | CA401993605 | MC2R | c.865A>C (p.Lys289Gln)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884654T= | CA2285919202 | MC2R | c.865A= (p.Lys289=)
| |
18 | g.13884655T>A | CA401993606 | MC2R | c.864A>T (p.Lys288Asn)
| |
18 | g.13884655T>C | CA503010659 | MC2R | c.864A>G (p.Lys288=)
| |
18 | g.13884655T>G | CA401993608 | MC2R | c.864A>C (p.Lys288Asn)
| |
18 | g.13884656T>A | CA401993610 | MC2R | c.863A>T (p.Lys288Ile)
| |
18 | g.13884656T>C | CA296828515 | MC2R | c.863A>G (p.Lys288Arg)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884656T>G | CA401993612 | MC2R | c.863A>C (p.Lys288Thr)
| |
18 | g.13884656T= | CA2285919203 | MC2R | c.863A= (p.Lys288=)
| |
18 | g.13884657T>A | CA401993618 | MC2R | c.862A>T (p.Lys288Ter)
| |
18 | g.13884657T>C | CA401993615 | MC2R | c.862A>G (p.Lys288Glu)
| |
18 | g.13884657T>G | CA296828519 | MC2R | c.862A>C (p.Lys288Gln)
| dbSNP |
18 | g.13884657T= | CA2285919204 | MC2R | c.862A= (p.Lys288=)
| |
18 | g.13884658G>A | CA503010660 | MC2R | c.861C>T (p.Phe287=)
| |
18 | g.13884658G>C | CA401993620 | MC2R | c.861C>G (p.Phe287Leu)
| |
18 | g.13884658G= | CA2285919205 | MC2R | c.861C= (p.Phe287=)
| |
18 | g.13884658G>T | CA8902385 | MC2R | c.861C>A (p.Phe287Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884659A>C | CA401993624 | MC2R | c.860T>G (p.Phe287Cys)
| |
18 | g.13884659A>G | CA401993625 | MC2R | c.860T>C (p.Phe287Ser)
| |
18 | g.13884659A>T | CA401993626 | MC2R | c.860T>A (p.Phe287Tyr)
| |
18 | g.13884660A>C | CA401993628 | MC2R | c.859T>G (p.Phe287Val)
| |
18 | g.13884660A>G | CA401993629 | MC2R | c.859T>C (p.Phe287Leu)
| |
18 | g.13884660A>T | CA401993630 | MC2R | c.859T>A (p.Phe287Ile)
| |
18 | g.13884661T>A | CA503010662 | MC2R | c.858A>T (p.Ala286=)
| |
18 | g.13884661T>C | CA503010663 | MC2R | c.858A>G (p.Ala286=)
| gnomAD v4 |
18 | g.13884661T>G | CA503010661 | MC2R | c.858A>C (p.Ala286=)
| gnomAD v4 |
18 | g.13884662G>A | CA401993631 | MC2R | c.857C>T (p.Ala286Val)
| |
18 | g.13884662G>C | CA401993633 | MC2R | c.857C>G (p.Ala286Gly)
| |
18 | g.13884662G>T | CA401993635 | MC2R | c.857C>A (p.Ala286Glu)
| |
18 | g.13884663C>A | CA401993637 | MC2R | c.856G>T (p.Ala286Ser)
| gnomAD v4 |
18 | g.13884663C= | CA2285919206 | MC2R | c.856G= (p.Ala286=)
| |
18 | g.13884663C>G | CA401993639 | MC2R | c.856G>C (p.Ala286Pro)
| |
18 | g.13884663C>T | CA8902386 | MC2R | c.856G>A (p.Ala286Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884664G>A | CA8902387 | MC2R | c.855C>T (p.Asp285=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884664G>C | CA401993645 | MC2R | c.855C>G (p.Asp285Glu)
| |
18 | g.13884664G= | CA2285919207 | MC2R | c.855C= (p.Asp285=)
| |
18 | g.13884664G>T | CA401993643 | MC2R | c.855C>A (p.Asp285Glu)
| |
18 | g.13884665T>A | CA401993647 | MC2R | c.854A>T (p.Asp285Val)
| |
18 | g.13884665T>C | CA401993651 | MC2R | c.854A>G (p.Asp285Gly)
| |
18 | g.13884665T>G | CA401993649 | MC2R | c.854A>C (p.Asp285Ala)
| |
18 | g.13884666C>A | CA401993653 | MC2R | c.853G>T (p.Asp285Tyr)
| |
18 | g.13884666C= | CA2285919208 | MC2R | c.853G= (p.Asp285=)
| |
18 | g.13884666C>G | CA8902388 | MC2R | c.853G>C (p.Asp285His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884666C>T | CA401993655 | MC2R | c.853G>A (p.Asp285Asn)
| |
18 | g.13884668del | CA2641150769 | MC2R | c.853del (p.Asp285ThrfsTer6)
| gnomAD v4 |
18 | g.13884667C>A | CA401993657 | MC2R | c.852G>T (p.Arg284Ser)
| |
18 | g.13884667C= | CA2285919209 | MC2R | c.852G= (p.Arg284=)
| |
18 | g.13884667C>G | CA401993660 | MC2R | c.852G>C (p.Arg284Ser)
| gnomAD v4 |
18 | g.13884667C>T | CA8902389 | MC2R | c.852G>A (p.Arg284=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884668C>A | CA401993661 | MC2R | c.851G>T (p.Arg284Met)
| |
18 | g.13884668C>G | CA401993662 | MC2R | c.851G>C (p.Arg284Thr)
| |
18 | g.13884668C>T | CA401993663 | MC2R | c.851G>A (p.Arg284Lys)
| |
18 | g.13884669T>A | CA401993664 | MC2R | c.850A>T (p.Arg284Trp)
| |
18 | g.13884669T>C | CA401993665 | MC2R | c.850A>G (p.Arg284Gly)
| dbSNP gnomAD v4 |
18 | g.13884669T>G | CA503010664 | MC2R | c.850A>C (p.Arg284=)
| |
18 | g.13884669T= | CA2285919210 | MC2R | c.850A= (p.Arg284=)
| |
18 | g.13884670G>A | CA503010665 | MC2R | c.849C>T (p.Leu283=)
| |
18 | g.13884670G>C | CA503010666 | MC2R | c.849C>G (p.Leu283=)
| |
18 | g.13884670G>T | CA503010667 | MC2R | c.849C>A (p.Leu283=)
| |
18 | g.13884671A= | CA2285919211 | MC2R | c.848T= (p.Leu283=)
| |
18 | g.13884671A>C | CA401993668 | MC2R | c.848T>G (p.Leu283Arg)
| |
18 | g.13884671A>G | CA401993669 | MC2R | c.848T>C (p.Leu283Pro)
| |
18 | g.13884671A>T | CA401993670 | MC2R | c.848T>A (p.Leu283His)
| |
18 | g.13884672G>A | CA401993677 | MC2R | c.847C>T (p.Leu283Phe)
| |
18 | g.13884672G>C | CA401993675 | MC2R | c.847C>G (p.Leu283Val)
| dbSNP gnomAD v4 |
18 | g.13884672G= | CA2285919212 | MC2R | c.847C= (p.Leu283=)
| |
18 | g.13884672G>T | CA401993674 | MC2R | c.847C>A (p.Leu283Ile)
| |
18 | g.13884672dup | CA628496354 | MC2R | c.847dup (p.Leu283ProfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884676_13884682del | CA2641150770 | MC2R | c.841_847del (p.Pro281SerfsTer8)
| gnomAD v4 |
18 | g.13884673C>A | CA401993680 | MC2R | c.846G>T (p.Glu282Asp)
| gnomAD v4 |
18 | g.13884673C= | CA2285919213 | MC2R | c.846G= (p.Glu282=)
| |
18 | g.13884673C>G | CA296828532 | MC2R | c.846G>C (p.Glu282Asp)
| dbSNP gnomAD v4 |
18 | g.13884673C>T | CA296828535 | MC2R | c.846G>A (p.Glu282=)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884673dup | CA2838517925 | MC2R | c.846dup (p.Leu283AlafsTer?)
| |
18 | g.13884674T>A | CA401993684 | MC2R | c.845A>T (p.Glu282Val)
| |
18 | g.13884674T>C | CA401993685 | MC2R | c.845A>G (p.Glu282Gly)
| |
18 | g.13884674T>G | CA401993686 | MC2R | c.845A>C (p.Glu282Ala)
| |
18 | g.13884675C>A | CA401993689 | MC2R | c.844G>T (p.Glu282Ter)
| |
18 | g.13884675C>G | CA401993691 | MC2R | c.844G>C (p.Glu282Gln)
| |
18 | g.13884675C>T | CA401993692 | MC2R | c.844G>A (p.Glu282Lys)
| |
18 | g.13884676T>A | CA503010668 | MC2R | c.843A>T (p.Pro281=)
| |
18 | g.13884676T>C | CA503010669 | MC2R | c.843A>G (p.Pro281=)
| |
18 | g.13884676T>G | CA503010670 | MC2R | c.843A>C (p.Pro281=)
| |
18 | g.13884676_13884677delinsTG | CA2285919214 | MC2R | c.842_843delinsCA (p.Pro281=)
| |
18 | g.13884677G>A | CA401993693 | MC2R | c.842C>T (p.Pro281Leu)
| |
18 | g.13884677G>C | CA401993694 | MC2R | c.842C>G (p.Pro281Arg)
| COSMIC |
18 | g.13884677G>T | CA401993695 | MC2R | c.842C>A (p.Pro281Gln)
| |
18 | g.13884679del | CA776350773 | MC2R | c.842del (p.Pro281GlnfsTer10)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884678G>A | CA401993700 | MC2R | c.841C>T (p.Pro281Ser)
| |
18 | g.13884678G>C | CA401993699 | MC2R | c.841C>G (p.Pro281Ala)
| |
18 | g.13884678G>T | CA401993698 | MC2R | c.841C>A (p.Pro281Thr)
| |
18 | g.13884679G>A | CA503010671 | MC2R | c.840C>T (p.Ser280=)
| |
18 | g.13884679G>C | CA401993703 | MC2R | c.840C>G (p.Ser280Arg)
| |
18 | g.13884679G>T | CA401993705 | MC2R | c.840C>A (p.Ser280Arg)
| |
18 | g.13884680C>A | CA401993707 | MC2R | c.839G>T (p.Ser280Ile)
| |
18 | g.13884680C>G | CA401993709 | MC2R | c.839G>C (p.Ser280Thr)
| |
18 | g.13884680C>T | CA401993711 | MC2R | c.839G>A (p.Ser280Asn)
| gnomAD v4 |
18 | g.13884681T>A | CA401993714 | MC2R | c.838A>T (p.Ser280Cys)
| |
18 | g.13884681T>C | CA401993716 | MC2R | c.838A>G (p.Ser280Gly)
| |
18 | g.13884681T>G | CA401993717 | MC2R | c.838A>C (p.Ser280Arg)
| |
18 | g.13884682C>A | CA503010672 | MC2R | c.837G>T (p.Arg279=)
| |
18 | g.13884682C>G | CA503010674 | MC2R | c.837G>C (p.Arg279=)
| |
18 | g.13884682C>T | CA503010673 | MC2R | c.837G>A (p.Arg279=)
| |
18 | g.13884683C>A | CA8902390 | MC2R | c.836G>T (p.Arg279Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13884683C= | CA2285919215 | MC2R | c.836G= (p.Arg279=)
| |
18 | g.13884683C>G | CA401993720 | MC2R | c.836G>C (p.Arg279Pro)
| |
18 | g.13884683C>T | CA401993721 | MC2R | c.836G>A (p.Arg279Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884684G>A | CA296828539 | MC2R | c.835C>T (p.Arg279Trp)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884684G>C | CA401993723 | MC2R | c.835C>G (p.Arg279Gly)
| COSMIC |
18 | g.13884684G= | CA2285919216 | MC2R | c.835C= (p.Arg279=)
| |
18 | g.13884684G>T | CA503010675 | MC2R | c.835C>A (p.Arg279=)
| gnomAD v4 |
18 | g.13884685G>A | CA503010676 | MC2R | c.834C>T (p.Phe278=)
| gnomAD v4 |
18 | g.13884685G>C | CA401993725 | MC2R | c.834C>G (p.Phe278Leu)
| |
18 | g.13884685G>T | CA401993727 | MC2R | c.834C>A (p.Phe278Leu)
| |
18 | g.13884686A= | CA2285919217 | MC2R | c.833T= (p.Phe278=)
| |
18 | g.13884686A>C | CA8902391 | MC2R | c.833T>G (p.Phe278Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884686A>G | CA401993729 | MC2R | c.833T>C (p.Phe278Ser)
| gnomAD v4 |
18 | g.13884686A>T | CA401993731 | MC2R | c.833T>A (p.Phe278Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884687A>C | CA401993733 | MC2R | c.832T>G (p.Phe278Val)
| |
18 | g.13884687A>G | CA401993735 | MC2R | c.832T>C (p.Phe278Leu)
| |
18 | g.13884687A>T | CA401993737 | MC2R | c.832T>A (p.Phe278Ile)
| |
18 | g.13884688G>A | CA8902392 | MC2R | c.831C>T (p.Ala277=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884688G>C | CA8902393 | MC2R | c.831C>G (p.Ala277=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884688G= | CA2285919219 | MC2R | c.831C= (p.Ala277=)
| |
18 | g.13884688G>T | CA503010677 | MC2R | c.831C>A (p.Ala277=)
| ClinVar |
18 | g.13884688_13884692delinsGGCAT | CA2285919218 | MC2R | c.827_831delinsATGCC (p.Tyr276=)
| |
18 | g.13884689G>A | CA401993740 | MC2R | c.830C>T (p.Ala277Val)
| gnomAD v4 |
18 | g.13884689G>C | CA401993741 | MC2R | c.830C>G (p.Ala277Gly)
| gnomAD v4 |
18 | g.13884689G>T | CA401993743 | MC2R | c.830C>A (p.Ala277Asp)
| |
18 | g.13884689_13884692del | CA776350804 | MC2R | c.827_830del (p.Tyr276SerfsTer14)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884690C>A | CA401993749 | MC2R | c.829G>T (p.Ala277Ser)
| |
18 | g.13884690C>G | CA401993747 | MC2R | c.829G>C (p.Ala277Pro)
| |
18 | g.13884690C>T | CA401993745 | MC2R | c.829G>A (p.Ala277Thr)
| COSMIC |
18 | g.13884691A= | CA2285919220 | MC2R | c.828T= (p.Tyr276=)
| |
18 | g.13884691A>C | CA401993751 | MC2R | c.828T>G (p.Tyr276Ter)
| |
18 | g.13884691A>G | CA8902394 | MC2R | c.828T>C (p.Tyr276=)
| dbSNP ExAC gnomAD v2 |
18 | g.13884691A>T | CA401993752 | MC2R | c.828T>A (p.Tyr276Ter)
| dbSNP |
18 | g.13884692T>A | CA401993755 | MC2R | c.827A>T (p.Tyr276Phe)
| |
18 | g.13884692T>C | CA296828548 | MC2R | c.827A>G (p.Tyr276Cys)
| dbSNP |
18 | g.13884692T>G | CA401993757 | MC2R | c.827A>C (p.Tyr276Ser)
| |
18 | g.13884692T= | CA2285919221 | MC2R | c.827A= (p.Tyr276=)
| |
18 | g.13884693A= | CA2285919222 | MC2R | c.826T= (p.Tyr276=)
| |
18 | g.13884693A>C | CA8902395 | MC2R | c.826T>G (p.Tyr276Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884693A>G | CA401993761 | MC2R | c.826T>C (p.Tyr276His)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884693A>T | CA401993762 | MC2R | c.826T>A (p.Tyr276Asn)
| |
18 | g.13884694T>A | CA503010678 | MC2R | c.825A>T (p.Ile275=)
| |
18 | g.13884694T>C | CA401993764 | MC2R | c.825A>G (p.Ile275Met)
| |
18 | g.13884694T>G | CA503010679 | MC2R | c.825A>C (p.Ile275=)
| |
18 | g.13884695A= | CA2285919223 | MC2R | c.824T= (p.Ile275=)
| |
18 | g.13884695A>C | CA401993766 | MC2R | c.824T>G (p.Ile275Arg)
| |
18 | g.13884695A>G | CA401993768 | MC2R | c.824T>C (p.Ile275Thr)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884695A>T | CA401993770 | MC2R | c.824T>A (p.Ile275Lys)
| |
18 | g.13884696T>A | CA401993775 | MC2R | c.823A>T (p.Ile275Leu)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884696T>C | CA8902396 | MC2R | c.823A>G (p.Ile275Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884696T>G | CA401993772 | MC2R | c.823A>C (p.Ile275Leu)
| |
18 | g.13884696T= | CA2285919224 | MC2R | c.823A= (p.Ile275=)
| |
18 | g.13884697G>A | CA296828555 | MC2R | c.822C>T (p.Phe274=)
| dbSNP gnomAD v4 |
18 | g.13884697G>C | CA401993777 | MC2R | c.822C>G (p.Phe274Leu)
| |
18 | g.13884697G= | CA2285919225 | MC2R | c.822C= (p.Phe274=)
| |
18 | g.13884697G>T | CA401993779 | MC2R | c.822C>A (p.Phe274Leu)
| |
18 | g.13884698A>C | CA401993781 | MC2R | c.821T>G (p.Phe274Cys)
| |
18 | g.13884698A>G | CA401993782 | MC2R | c.821T>C (p.Phe274Ser)
| |
18 | g.13884698A>T | CA401993783 | MC2R | c.821T>A (p.Phe274Tyr)
| |
18 | g.13884699A= | CA2285919226 | MC2R | c.820T= (p.Phe274=)
| |
18 | g.13884699A>C | CA401993784 | MC2R | c.820T>G (p.Phe274Val)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884699A>G | CA401993785 | MC2R | c.820T>C (p.Phe274Leu)
| |
18 | g.13884699A>T | CA401993787 | MC2R | c.820T>A (p.Phe274Ile)
| gnomAD v4 |
18 | g.13884700G>A | CA503010680 | MC2R | c.819C>T (p.Pro273=)
| |
18 | g.13884700G>C | CA503010681 | MC2R | c.819C>G (p.Pro273=)
| |
18 | g.13884700G>T | CA503010682 | MC2R | c.819C>A (p.Pro273=)
| |
18 | g.13884703del | CA2641150771 | MC2R | c.819del (p.Phe274SerfsTer17)
| gnomAD v4 |
18 | g.13884701G>A | CA401993788 | MC2R | c.818C>T (p.Pro273Leu)
| dbSNP COSMIC |
18 | g.13884701G>C | CA401993790 | MC2R | c.818C>G (p.Pro273Arg)
| |
18 | g.13884701G= | CA2285919227 | MC2R | c.818C= (p.Pro273=)
| |
18 | g.13884701G>T | CA296828558 | MC2R | c.818C>A (p.Pro273His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884702G>A | CA401993794 | MC2R | c.817C>T (p.Pro273Ser)
| ClinVar |
18 | g.13884702G>C | CA401993796 | MC2R | c.817C>G (p.Pro273Ala)
| |
18 | g.13884702G= | CA2285919228 | MC2R | c.817C= (p.Pro273=)
| |
18 | g.13884702G>T | CA401993793 | MC2R | c.817C>A (p.Pro273Thr)
| dbSNP COSMIC |
18 | g.13884703G>A | CA503010683 | MC2R | c.816C>T (p.Asp272=)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884703G>C | CA401993798 | MC2R | c.816C>G (p.Asp272Glu)
| |
18 | g.13884703G= | CA2285919229 | MC2R | c.816C= (p.Asp272=)
| |
18 | g.13884703G>T | CA401993800 | MC2R | c.816C>A (p.Asp272Glu)
| |
18 | g.13884704T>A | CA401993803 | MC2R | c.815A>T (p.Asp272Val)
| |
18 | g.13884704T>C | CA401993804 | MC2R | c.815A>G (p.Asp272Gly)
| |
18 | g.13884704T>G | CA401993805 | MC2R | c.815A>C (p.Asp272Ala)
| |
18 | g.13884705C>A | CA401993808 | MC2R | c.814G>T (p.Asp272Tyr)
| |
18 | g.13884705C>G | CA401993809 | MC2R | c.814G>C (p.Asp272His)
| |
18 | g.13884705C>T | CA401993810 | MC2R | c.814G>A (p.Asp272Asn)
| |
18 | g.13884706A>C | CA401993813 | MC2R | c.813T>G (p.Ile271Met)
| |
18 | g.13884706A>G | CA503010685 | MC2R | c.813T>C (p.Ile271=)
| |
18 | g.13884706A>T | CA503010684 | MC2R | c.813T>A (p.Ile271=)
| |
18 | g.13884707A= | CA2285919230 | MC2R | c.812T= (p.Ile271=)
| |
18 | g.13884707A>C | CA401993816 | MC2R | c.812T>G (p.Ile271Ser)
| |
18 | g.13884707A>G | CA8902397 | MC2R | c.812T>C (p.Ile271Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884707A>T | CA401993818 | MC2R | c.812T>A (p.Ile271Asn)
| |
18 | g.13884708T>A | CA401993823 | MC2R | c.811A>T (p.Ile271Phe)
| |
18 | g.13884708T>C | CA401993824 | MC2R | c.811A>G (p.Ile271Val)
| gnomAD v4 |
18 | g.13884708T>G | CA401993821 | MC2R | c.811A>C (p.Ile271Leu)
| |
18 | g.13884709G>A | CA503010686 | MC2R | c.810C>T (p.Val270=)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13884709G>C | CA503010688 | MC2R | c.810C>G (p.Val270=)
| |
18 | g.13884709G= | CA2285919231 | MC2R | c.810C= (p.Val270=)
| |
18 | g.13884709G>T | CA503010687 | MC2R | c.810C>A (p.Val270=)
| dbSNP |
18 | g.13884710A= | CA2285919232 | MC2R | c.809T= (p.Val270=)
| |
18 | g.13884710A>C | CA401993826 | MC2R | c.809T>G (p.Val270Gly)
| |
18 | g.13884710A>G | CA401993827 | MC2R | c.809T>C (p.Val270Ala)
| |
18 | g.13884710A>T | CA401993829 | MC2R | c.809T>A (p.Val270Asp)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13884711C>A | CA401993832 | MC2R | c.808G>T (p.Val270Phe)
| |
18 | g.13884711C= | CA2285919233 | MC2R | c.808G= (p.Val270=)
| |
18 | g.13884711C>G | CA401993834 | MC2R | c.808G>C (p.Val270Leu)
| dbSNP |
18 | g.13884711C>T | CA8902398 | MC2R | c.808G>A (p.Val270Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.13884712G>A | CA8902399 | MC2R | c.807C>T (p.Ala269=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13884712G>C | CA503010689 | MC2R | c.807C>G (p.Ala269=)
| |
18 | g.13884712G= | CA2285919234 | MC2R | c.807C= (p.Ala269=)
| |
18 | g.13884712G>T | CA8902400 | MC2R | c.807C>A (p.Ala269=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |