| 18 | g.13884863_13884878delinsATGGCCCCTTTCATGT | CA2285919304 | MC2R | c.641_656delinsACATGAAAGGGGCCAT (p.Asn214=)
| |
| 18 | g.13884868_13884882del | CA628623261 | MC2R | c.641_655del (p.Asn214_Ala218del)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884874C>A | CA401994563 | MC2R | c.645G>T (p.Met215Ile)
| |
| 18 | g.13884874C>G | CA401994561 | MC2R | c.645G>C (p.Met215Ile)
| |
| 18 | g.13884874C>T | CA401994564 | MC2R | c.645G>A (p.Met215Ile)
| COSMIC |
| 18 | g.13884875A= | CA2285919308 | MC2R | c.644T= (p.Met215=)
| |
| 18 | g.13884875A>C | CA401994567 | MC2R | c.644T>G (p.Met215Arg)
| |
| 18 | g.13884875A>G | CA401994570 | MC2R | c.644T>C (p.Met215Thr)
| |
| 18 | g.13884875A>T | CA8902429 | MC2R | c.644T>A (p.Met215Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884876T>A | CA401994573 | MC2R | c.643A>T (p.Met215Leu)
| |
| 18 | g.13884876T>C | CA8902430 | MC2R | c.643A>G (p.Met215Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884876T>G | CA401994574 | MC2R | c.643A>C (p.Met215Leu)
| |
| 18 | g.13884876T= | CA2285919309 | MC2R | c.643A= (p.Met215=)
| |
| 18 | g.13884877G>A | CA8902431 | MC2R | c.642C>T (p.Asn214=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884877G>C | CA401994577 | MC2R | c.642C>G (p.Asn214Lys)
| |
| 18 | g.13884877G= | CA2285919310 | MC2R | c.642C= (p.Asn214=)
| |
| 18 | g.13884877G>T | CA401994579 | MC2R | c.642C>A (p.Asn214Lys)
| dbSNP |
| 18 | g.13884878T>A | CA401994586 | MC2R | c.641A>T (p.Asn214Ile)
| |
| 18 | g.13884878T>C | CA401994584 | MC2R | c.641A>G (p.Asn214Ser)
| gnomAD v4 |
| 18 | g.13884878T>G | CA401994582 | MC2R | c.641A>C (p.Asn214Thr)
| |
| 18 | g.13884879T>A | CA401994589 | MC2R | c.640A>T (p.Asn214Tyr)
| dbSNP gnomAD v4 |
| 18 | g.13884879T>C | CA401994591 | MC2R | c.640A>G (p.Asn214Asp)
| |
| 18 | g.13884879T>G | CA401994592 | MC2R | c.640A>C (p.Asn214His)
| |
| 18 | g.13884879T= | CA2285919311 | MC2R | c.640A= (p.Asn214=)
| |
| 18 | g.13884880G>A | CA503248306 | MC2R | c.639C>T (p.Ala213=)
| |
| 18 | g.13884880G>C | CA503248307 | MC2R | c.639C>G (p.Ala213=)
| |
| 18 | g.13884880G>T | CA503248309 | MC2R | c.639C>A (p.Ala213=)
| gnomAD v4 |
| 18 | g.13884881G>A | CA8902432 | MC2R | c.638C>T (p.Ala213Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884881G>C | CA401994595 | MC2R | c.638C>G (p.Ala213Gly)
| |
| 18 | g.13884881G= | CA2285919312 | MC2R | c.638C= (p.Ala213=)
| |
| 18 | g.13884881G>T | CA401994597 | MC2R | c.638C>A (p.Ala213Asp)
| |
| 18 | g.13884882C>A | CA8902433 | MC2R | c.637G>T (p.Ala213Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884882C= | CA2285919313 | MC2R | c.637G= (p.Ala213=)
| |
| 18 | g.13884882C>G | CA401994603 | MC2R | c.637G>C (p.Ala213Pro)
| |
| 18 | g.13884882C>T | CA401994601 | MC2R | c.637G>A (p.Ala213Thr)
| |
| 18 | g.13884883T>A | CA401994605 | MC2R | c.636A>T (p.Arg212Ser)
| |
| 18 | g.13884883T>C | CA503248311 | MC2R | c.636A>G (p.Arg212=)
| gnomAD v4 |
| 18 | g.13884883T>G | CA401994606 | MC2R | c.636A>C (p.Arg212Ser)
| |
| 18 | g.13884884C>A | CA401994607 | MC2R | c.635G>T (p.Arg212Ile)
| |
| 18 | g.13884884C>G | CA401994609 | MC2R | c.635G>C (p.Arg212Thr)
| |
| 18 | g.13884884C>T | CA401994611 | MC2R | c.635G>A (p.Arg212Lys)
| |
| 18 | g.13884884_13884885delinsCT | CA2285919314 | MC2R | c.634_635delinsAG (p.Arg212=)
| |
| 18 | g.13884885del | CA628623268 | MC2R | c.634del (p.Arg212GlufsTer4)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884885T>A | CA401994613 | MC2R | c.634A>T (p.Arg212Ter)
| |
| 18 | g.13884885T>C | CA401994615 | MC2R | c.634A>G (p.Arg212Gly)
| |
| 18 | g.13884885T>G | CA503248315 | MC2R | c.634A>C (p.Arg212=)
| |
| 18 | g.13884885_13884888delinsTGGG | CA2285919315 | MC2R | c.631_634delinsCCCA (p.Pro211=)
| |
| 18 | g.13884886G>A | CA8902434 | MC2R | c.633C>T (p.Pro211=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884886G>C | CA503248320 | MC2R | c.633C>G (p.Pro211=)
| gnomAD v4 |
| 18 | g.13884886G= | CA2285919316 | MC2R | c.633C= (p.Pro211=)
| |
| 18 | g.13884886G>T | CA503248317 | MC2R | c.633C>A (p.Pro211=)
| |
| 18 | g.13884887_13884889del | CA776351216 | MC2R | c.631_633del (p.Pro211del)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884887G>A | CA401994619 | MC2R | c.632C>T (p.Pro211Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884887G>C | CA401994621 | MC2R | c.632C>G (p.Pro211Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884887G= | CA2285919317 | MC2R | c.632C= (p.Pro211=)
| |
| 18 | g.13884887G>T | CA401994622 | MC2R | c.632C>A (p.Pro211His)
| gnomAD v4 |
| 18 | g.13884888G>A | CA8902435 | MC2R | c.631C>T (p.Pro211Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884888G>C | CA401994627 | MC2R | c.631C>G (p.Pro211Ala)
| |
| 18 | g.13884888G= | CA2285919318 | MC2R | c.631C= (p.Pro211=)
| |
| 18 | g.13884888G>T | CA401994626 | MC2R | c.631C>A (p.Pro211Thr)
| |
| 18 | g.13884889G>A | CA503248323 | MC2R | c.630C>T (p.Leu210=)
| |
| 18 | g.13884889G>C | CA503248325 | MC2R | c.630C>G (p.Leu210=)
| |
| 18 | g.13884889G>T | CA503248326 | MC2R | c.630C>A (p.Leu210=)
| |
| 18 | g.13884890A= | CA2285919319 | MC2R | c.629T= (p.Leu210=)
| |
| 18 | g.13884890A>C | CA401994631 | MC2R | c.629T>G (p.Leu210Arg)
| |
| 18 | g.13884890A>G | CA401994632 | MC2R | c.629T>C (p.Leu210Pro)
| dbSNP |
| 18 | g.13884890A>T | CA401994634 | MC2R | c.629T>A (p.Leu210His)
| |
| 18 | g.13884891G>A | CA401994637 | MC2R | c.628C>T (p.Leu210Phe)
| gnomAD v4 |
| 18 | g.13884891G>C | CA401994639 | MC2R | c.628C>G (p.Leu210Val)
| |
| 18 | g.13884891G>T | CA401994641 | MC2R | c.628C>A (p.Leu210Ile)
| |
| 18 | g.13884892G>A | CA503248328 | MC2R | c.627C>T (p.Thr209=)
| dbSNP gnomAD v4 |
| 18 | g.13884892G>C | CA503248330 | MC2R | c.627C>G (p.Thr209=)
| |
| 18 | g.13884892G= | CA2285919320 | MC2R | c.627C= (p.Thr209=)
| |
| 18 | g.13884892G>T | CA503248329 | MC2R | c.627C>A (p.Thr209=)
| |
| 18 | g.13884893G>A | CA296828689 | MC2R | c.626C>T (p.Thr209Ile)
| dbSNP gnomAD v4 COSMIC |
| 18 | g.13884893G>C | CA401994645 | MC2R | c.626C>G (p.Thr209Ser)
| |
| 18 | g.13884893G= | CA2285919321 | MC2R | c.626C= (p.Thr209=)
| |
| 18 | g.13884893G>T | CA401994646 | MC2R | c.626C>A (p.Thr209Asn)
| |
| 18 | g.13884894T>A | CA401994648 | MC2R | c.625A>T (p.Thr209Ser)
| |
| 18 | g.13884894T>C | CA401994650 | MC2R | c.625A>G (p.Thr209Ala)
| |
| 18 | g.13884894T>G | CA401994651 | MC2R | c.625A>C (p.Thr209Pro)
| dbSNP |
| 18 | g.13884894T= | CA2285919322 | MC2R | c.625A= (p.Thr209=)
| |
| 18 | g.13884895G>A | CA8902436 | MC2R | c.624C>T (p.Ser208=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884895G>C | CA503248334 | MC2R | c.624C>G (p.Ser208=)
| |
| 18 | g.13884895G= | CA2285919323 | MC2R | c.624C= (p.Ser208=)
| |
| 18 | g.13884895G>T | CA503248335 | MC2R | c.624C>A (p.Ser208=)
| |
| 18 | g.13884896G>A | CA401994656 | MC2R | c.623C>T (p.Ser208Phe)
| gnomAD v4 |
| 18 | g.13884896G>C | CA401994660 | MC2R | c.623C>G (p.Ser208Cys)
| |
| 18 | g.13884896G>T | CA401994658 | MC2R | c.623C>A (p.Ser208Tyr)
| gnomAD v4 |
| 18 | g.13884897A>C | CA401994663 | MC2R | c.622T>G (p.Ser208Ala)
| |
| 18 | g.13884897A>G | CA401994665 | MC2R | c.622T>C (p.Ser208Pro)
| |
| 18 | g.13884897A>T | CA401994666 | MC2R | c.622T>A (p.Ser208Thr)
| |
| 18 | g.13884898G>A | CA503248340 | MC2R | c.621C>T (p.Ile207=)
| gnomAD v4 |
| 18 | g.13884898G>C | CA401994667 | MC2R | c.621C>G (p.Ile207Met)
| |
| 18 | g.13884898G>T | CA503248343 | MC2R | c.621C>A (p.Ile207=)
| |
| 18 | g.13884899A= | CA2285919324 | MC2R | c.620T= (p.Ile207=)
| |
| 18 | g.13884899A>C | CA401994670 | MC2R | c.620T>G (p.Ile207Ser)
| |
| 18 | g.13884899A>G | CA401994672 | MC2R | c.620T>C (p.Ile207Thr)
| |
| 18 | g.13884899A>T | CA8902437 | MC2R | c.620T>A (p.Ile207Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884900T>A | CA401994674 | MC2R | c.619A>T (p.Ile207Phe)
| |
| 18 | g.13884900T>C | CA401994676 | MC2R | c.619A>G (p.Ile207Val)
| gnomAD v4 |
| 18 | g.13884900T>G | CA401994677 | MC2R | c.619A>C (p.Ile207Leu)
| |
| 18 | g.13884901C>A | CA401994679 | MC2R | c.618G>T (p.Lys206Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884901C= | CA2285919325 | MC2R | c.618G= (p.Lys206=)
| |
| 18 | g.13884901C>G | CA401994680 | MC2R | c.618G>C (p.Lys206Asn)
| |
| 18 | g.13884901C>T | CA503248345 | MC2R | c.618G>A (p.Lys206=)
| |
| 18 | g.13884902T>A | CA401994682 | MC2R | c.617A>T (p.Lys206Met)
| |
| 18 | g.13884902T>C | CA401994684 | MC2R | c.617A>G (p.Lys206Arg)
| |
| 18 | g.13884902T>G | CA8902438 | MC2R | c.617A>C (p.Lys206Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884902T= | CA2285919326 | MC2R | c.617A= (p.Lys206=)
| |
| 18 | g.13884903T>A | CA401994687 | MC2R | c.616A>T (p.Lys206Ter)
| |
| 18 | g.13884903T>C | CA401994689 | MC2R | c.616A>G (p.Lys206Glu)
| |
| 18 | g.13884903T>G | CA401994690 | MC2R | c.616A>C (p.Lys206Gln)
| |
| 18 | g.13884904C>A | CA401994693 | MC2R | c.615G>T (p.Arg205Ser)
| |
| 18 | g.13884904C>G | CA401994694 | MC2R | c.615G>C (p.Arg205Ser)
| |
| 18 | g.13884904C>T | CA503248350 | MC2R | c.615G>A (p.Arg205=)
| |
| 18 | g.13884905C>A | CA401994696 | MC2R | c.614G>T (p.Arg205Met)
| |
| 18 | g.13884905C= | CA2285919327 | MC2R | c.614G= (p.Arg205=)
| |
| 18 | g.13884905C>G | CA401994698 | MC2R | c.614G>C (p.Arg205Thr)
| |
| 18 | g.13884905C>T | CA401994699 | MC2R | c.614G>A (p.Arg205Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884906T>A | CA401994701 | MC2R | c.613A>T (p.Arg205Trp)
| |
| 18 | g.13884906T>C | CA401994703 | MC2R | c.613A>G (p.Arg205Gly)
| gnomAD v4 |
| 18 | g.13884906T>G | CA503248355 | MC2R | c.613A>C (p.Arg205=)
| |
| 18 | g.13884907G>A | CA503248358 | MC2R | c.612C>T (p.Thr204=)
| gnomAD v4 |
| 18 | g.13884907G>C | CA503248361 | MC2R | c.612C>G (p.Thr204=)
| gnomAD v4 |
| 18 | g.13884907G= | CA2285919328 | MC2R | c.612C= (p.Thr204=)
| |
| 18 | g.13884907G>T | CA503248359 | MC2R | c.612C>A (p.Thr204=)
| dbSNP gnomAD v4 |
| 18 | g.13884907_13884908del | CA988025185 | MC2R | c.611_612del (p.Thr204LysfsTer?)
| gnomAD v3 gnomAD v4 |
| 18 | g.13884908G>A | CA401994705 | MC2R | c.611C>T (p.Thr204Ile)
| |
| 18 | g.13884908G>C | CA401994707 | MC2R | c.611C>G (p.Thr204Ser)
| |
| 18 | g.13884908G= | CA2285919329 | MC2R | c.611C= (p.Thr204=)
| |
| 18 | g.13884908G>T | CA8902439 | MC2R | c.611C>A (p.Thr204Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884909T>A | CA401994712 | MC2R | c.610A>T (p.Thr204Ser)
| |
| 18 | g.13884909T>C | CA401994716 | MC2R | c.610A>G (p.Thr204Ala)
| |
| 18 | g.13884909T>G | CA401994714 | MC2R | c.610A>C (p.Thr204Pro)
| gnomAD v4 |
| 18 | g.13884910G>A | CA503248365 | MC2R | c.609C>T (p.His203=)
| |
| 18 | g.13884910G>C | CA401994718 | MC2R | c.609C>G (p.His203Gln)
| |
| 18 | g.13884910G>T | CA401994720 | MC2R | c.609C>A (p.His203Gln)
| gnomAD v3 gnomAD v4 |
| 18 | g.13884911T>A | CA8902440 | MC2R | c.608A>T (p.His203Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884911T>C | CA401994722 | MC2R | c.608A>G (p.His203Arg)
| dbSNP |
| 18 | g.13884911T>G | CA401994723 | MC2R | c.608A>C (p.His203Pro)
| |
| 18 | g.13884911T= | CA2285919330 | MC2R | c.608A= (p.His203=)
| |
| 18 | g.13884911_13884912insTAATGATAC | CA988025194 | MC2R | c.607_608insGTATCATTA (p.His203delinsArgIleIleAsn)
| gnomAD v3 gnomAD v4 |
| 18 | g.13884912G>A | CA401994725 | MC2R | c.607C>T (p.His203Tyr)
| COSMIC |
| 18 | g.13884912G>C | CA401994726 | MC2R | c.607C>G (p.His203Asp)
| |
| 18 | g.13884912G>T | CA401994727 | MC2R | c.607C>A (p.His203Asn)
| |
| 18 | g.13884913G>A | CA8902441 | MC2R | c.606C>T (p.Ser202=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884913G>C | CA503248369 | MC2R | c.606C>G (p.Ser202=)
| |
| 18 | g.13884913G= | CA2285919331 | MC2R | c.606C= (p.Ser202=)
| |
| 18 | g.13884913G>T | CA503248368 | MC2R | c.606C>A (p.Ser202=)
| |
| 18 | g.13884914G>A | CA401994733 | MC2R | c.605C>T (p.Ser202Phe)
| COSMIC |
| 18 | g.13884914G>C | CA401994732 | MC2R | c.605C>G (p.Ser202Cys)
| |
| 18 | g.13884914G>T | CA401994731 | MC2R | c.605C>A (p.Ser202Tyr)
| |
| 18 | g.13884914_13884916del | CA988025198 | MC2R | c.603_605del (p.Ser202del)
| gnomAD v3 gnomAD v4 |
| 18 | g.13884915A= | CA2285919332 | MC2R | c.604T= (p.Ser202=)
| |
| 18 | g.13884915A>C | CA401994737 | MC2R | c.604T>G (p.Ser202Ala)
| |
| 18 | g.13884915A>G | CA401994738 | MC2R | c.604T>C (p.Ser202Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884915A>T | CA401994741 | MC2R | c.604T>A (p.Ser202Thr)
| |
| 18 | g.13884916T>A | CA503248374 | MC2R | c.603A>T (p.Arg201=)
| |
| 18 | g.13884916T>C | CA503248375 | MC2R | c.603A>G (p.Arg201=)
| |
| 18 | g.13884916T>G | CA503248377 | MC2R | c.603A>C (p.Arg201=)
| |
| 18 | g.13884917C>A | CA296828703 | MC2R | c.602G>T (p.Arg201Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884917C= | CA2285919333 | MC2R | c.602G= (p.Arg201=)
| |
| 18 | g.13884917C>G | CA401994744 | MC2R | c.602G>C (p.Arg201Pro)
| |
| 18 | g.13884917C>T | CA8902442 | MC2R | c.602G>A (p.Arg201Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884918G>A | CA116117 | MC2R | c.601C>T (p.Arg201Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884918G>C | CA401994750 | MC2R | c.601C>G (p.Arg201Gly)
| dbSNP |
| 18 | g.13884918G= | CA2285919334 | MC2R | c.601C= (p.Arg201=)
| |
| 18 | g.13884918G>T | CA8902443 | MC2R | c.601C>A (p.Arg201=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884919A>C | CA503248387 | MC2R | c.600T>G (p.Ala200=)
| |
| 18 | g.13884919A>G | CA503248389 | MC2R | c.600T>C (p.Ala200=)
| |
| 18 | g.13884919A>T | CA503248390 | MC2R | c.600T>A (p.Ala200=)
| |
| 18 | g.13884919_13884920delinsAG | CA2285919335 | MC2R | c.599_600delinsCT (p.Ala200=)
| |
| 18 | g.13884920del | CA988025211 | MC2R | c.599del (p.Ala200ValfsTer16)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884920G>A | CA401994753 | MC2R | c.599C>T (p.Ala200Val)
| gnomAD v4 |
| 18 | g.13884920G>C | CA401994755 | MC2R | c.599C>G (p.Ala200Gly)
| |
| 18 | g.13884920G>T | CA401994756 | MC2R | c.599C>A (p.Ala200Asp)
| |
| 18 | g.13884921C>A | CA401994760 | MC2R | c.598G>T (p.Ala200Ser)
| dbSNP gnomAD v4 |
| 18 | g.13884921C= | CA2285919336 | MC2R | c.598G= (p.Ala200=)
| |
| 18 | g.13884921C>G | CA401994759 | MC2R | c.598G>C (p.Ala200Pro)
| |
| 18 | g.13884921C>T | CA401994757 | MC2R | c.598G>A (p.Ala200Thr)
| |
| 18 | g.13884922C>A | CA503248400 | MC2R | c.597G>T (p.Leu199=)
| |
| 18 | g.13884922C>G | CA503248396 | MC2R | c.597G>C (p.Leu199=)
| |
| 18 | g.13884922C>T | CA503248399 | MC2R | c.597G>A (p.Leu199=)
| gnomAD v4 |
| 18 | g.13884923A= | CA2285919337 | MC2R | c.596T= (p.Leu199=)
| |
| 18 | g.13884923A>C | CA401994762 | MC2R | c.596T>G (p.Leu199Arg)
| |
| 18 | g.13884923A>G | CA401994764 | MC2R | c.596T>C (p.Leu199Pro)
| COSMIC |
| 18 | g.13884923A>T | CA401994766 | MC2R | c.596T>A (p.Leu199Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884924G>A | CA503248404 | MC2R | c.595C>T (p.Leu199=)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884924G>C | CA401994768 | MC2R | c.595C>G (p.Leu199Val)
| gnomAD v3 gnomAD v4 |
| 18 | g.13884924G= | CA2285919338 | MC2R | c.595C= (p.Leu199=)
| |
| 18 | g.13884924G>T | CA401994770 | MC2R | c.595C>A (p.Leu199Met)
| |
| 18 | g.13884925C>A | CA503248405 | MC2R | c.594G>T (p.Leu198=)
| |
| 18 | g.13884925C>G | CA503248407 | MC2R | c.594G>C (p.Leu198=)
| |
| 18 | g.13884925C>T | CA503248409 | MC2R | c.594G>A (p.Leu198=)
| |
| 18 | g.13884925_13884926insG | CA988025220 | MC2R | c.593_594insC (p.Leu199AlafsTer?)
| gnomAD v3 gnomAD v4 |
| 18 | g.13884926A= | CA2285919339 | MC2R | c.593T= (p.Leu198=)
| |
| 18 | g.13884926A>C | CA401994772 | MC2R | c.593T>G (p.Leu198Arg)
| |
| 18 | g.13884926A>G | CA296828719 | MC2R | c.593T>C (p.Leu198Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884926A>T | CA296828716 | MC2R | c.593T>A (p.Leu198Gln)
| dbSNP |
| 18 | g.13884927G>A | CA503248413 | MC2R | c.592C>T (p.Leu198=)
| COSMIC |
| 18 | g.13884927G>C | CA401994777 | MC2R | c.592C>G (p.Leu198Val)
| |
| 18 | g.13884927G>T | CA401994779 | MC2R | c.592C>A (p.Leu198Met)
| gnomAD v4 |
| 18 | g.13884928G>A | CA8902444 | MC2R | c.591C>T (p.Phe197=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884928G>C | CA401994781 | MC2R | c.591C>G (p.Phe197Leu)
| dbSNP |
| 18 | g.13884928G= | CA2285919340 | MC2R | c.591C= (p.Phe197=)
| |
| 18 | g.13884928G>T | CA401994783 | MC2R | c.591C>A (p.Phe197Leu)
| |
| 18 | g.13884928_13884931del | CA988025230 | MC2R | c.588_591del (p.Met196IlefsTer19)
| gnomAD v3 gnomAD v4 |
| 18 | g.13884929A= | CA2285919341 | MC2R | c.590T= (p.Phe197=)
| |
| 18 | g.13884929A>C | CA401994787 | MC2R | c.590T>G (p.Phe197Cys)
| dbSNP |
| 18 | g.13884929A>G | CA401994788 | MC2R | c.590T>C (p.Phe197Ser)
| |
| 18 | g.13884929A>T | CA401994785 | MC2R | c.590T>A (p.Phe197Tyr)
| |
| 18 | g.13884930A= | CA2285919342 | MC2R | c.589T= (p.Phe197=)
| |
| 18 | g.13884930A>C | CA401994790 | MC2R | c.589T>G (p.Phe197Val)
| |
| 18 | g.13884930A>G | CA401994792 | MC2R | c.589T>C (p.Phe197Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884930A>T | CA401994793 | MC2R | c.589T>A (p.Phe197Ile)
| |
| 18 | g.13884931C>A | CA401994796 | MC2R | c.588G>T (p.Met196Ile)
| |
| 18 | g.13884931C>G | CA401994798 | MC2R | c.588G>C (p.Met196Ile)
| |
| 18 | g.13884931C>T | CA401994799 | MC2R | c.588G>A (p.Met196Ile)
| |
| 18 | g.13884931_13884933delinsCAT | CA2285919343 | MC2R | c.586_588delinsATG (p.Met196=)
| |
| 18 | g.13884932A>C | CA401994806 | MC2R | c.587T>G (p.Met196Arg)
| |
| 18 | g.13884932A>G | CA401994802 | MC2R | c.587T>C (p.Met196Thr)
| gnomAD v4 |
| 18 | g.13884932A>T | CA401994804 | MC2R | c.587T>A (p.Met196Lys)
| |
| 18 | g.13884932_13884933del | CA776351290 | MC2R | c.586_587del (p.Met196ValfsTer?)
| dbSNP |
| 18 | g.13884933T>A | CA401994808 | MC2R | c.586A>T (p.Met196Leu)
| |
| 18 | g.13884933T>C | CA401994809 | MC2R | c.586A>G (p.Met196Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884933T>G | CA401994810 | MC2R | c.586A>C (p.Met196Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884933T= | CA2285919344 | MC2R | c.586A= (p.Met196=)
| |
| 18 | g.13884934G>A | CA503248420 | MC2R | c.585C>T (p.His195=)
| |
| 18 | g.13884934G>C | CA401994811 | MC2R | c.585C>G (p.His195Gln)
| gnomAD v3 gnomAD v4 |
| 18 | g.13884934G>T | CA401994812 | MC2R | c.585C>A (p.His195Gln)
| |
| 18 | g.13884935T>A | CA401994817 | MC2R | c.584A>T (p.His195Leu)
| |
| 18 | g.13884935T>C | CA401994813 | MC2R | c.584A>G (p.His195Arg)
| |
| 18 | g.13884935T>G | CA401994815 | MC2R | c.584A>C (p.His195Pro)
| |
| 18 | g.13884936G>A | CA401994819 | MC2R | c.583C>T (p.His195Tyr)
| gnomAD v3 gnomAD v4 |
| 18 | g.13884936G>C | CA401994821 | MC2R | c.583C>G (p.His195Asp)
| |
| 18 | g.13884936G>T | CA401994823 | MC2R | c.583C>A (p.His195Asn)
| |
| 18 | g.13884937C>A | CA503248427 | MC2R | c.582G>T (p.Val194=)
| |
| 18 | g.13884937C>G | CA503248428 | MC2R | c.582G>C (p.Val194=)
| |
| 18 | g.13884937C>T | CA503248430 | MC2R | c.582G>A (p.Val194=)
| gnomAD v4 |
| 18 | g.13884937_13884940delinsCACA | CA2285919345 | MC2R | c.579_582delinsTGTG (p.Tyr193=)
| |
| 18 | g.13884938A>C | CA401994827 | MC2R | c.581T>G (p.Val194Gly)
| gnomAD v4 |
| 18 | g.13884938A>G | CA401994828 | MC2R | c.581T>C (p.Val194Ala)
| |
| 18 | g.13884938A>T | CA401994830 | MC2R | c.581T>A (p.Val194Glu)
| |
| 18 | g.13884938_13884940del | CA10603618 | MC2R | c.579_581del (p.Tyr193Ter)
| ClinVar dbSNP |
| 18 | g.13884939C>A | CA401994833 | MC2R | c.580G>T (p.Val194Leu)
| gnomAD v4 |
| 18 | g.13884939C>G | CA401994836 | MC2R | c.580G>C (p.Val194Leu)
| |
| 18 | g.13884939C>T | CA401994834 | MC2R | c.580G>A (p.Val194Met)
| |
| 18 | g.13884939_13884941delinsCAT | CA2285919346 | MC2R | c.578_580delinsATG (p.Tyr193=)
| |
| 18 | g.13884940A= | CA2285919347 | MC2R | c.579T= (p.Tyr193=)
| |
| 18 | g.13884940A>C | CA401994839 | MC2R | c.579T>G (p.Tyr193Ter)
| dbSNP |
| 18 | g.13884940A>G | CA8902446 | MC2R | c.579T>C (p.Tyr193=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884940A>T | CA401994841 | MC2R | c.579T>A (p.Tyr193Ter)
| |
| 18 | g.13884941_13884942del | CA8902445 | MC2R | c.578_579del (p.Tyr193CysfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884941T>A | CA401994843 | MC2R | c.578A>T (p.Tyr193Phe)
| |
| 18 | g.13884941T>C | CA8902447 | MC2R | c.578A>G (p.Tyr193Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884941T>G | CA401994845 | MC2R | c.578A>C (p.Tyr193Ser)
| |
| 18 | g.13884941T= | CA2285919348 | MC2R | c.578A= (p.Tyr193=)
| |
| 18 | g.13884942A>C | CA401994848 | MC2R | c.577T>G (p.Tyr193Asp)
| |
| 18 | g.13884942A>G | CA401994849 | MC2R | c.577T>C (p.Tyr193His)
| |
| 18 | g.13884942A>T | CA401994851 | MC2R | c.577T>A (p.Tyr193Asn)
| |
| 18 | g.13884943G>A | CA503248445 | MC2R | c.576C>T (p.Leu192=)
| |
| 18 | g.13884943G>C | CA503248447 | MC2R | c.576C>G (p.Leu192=)
| |
| 18 | g.13884943G>T | CA503248448 | MC2R | c.576C>A (p.Leu192=)
| |
| 18 | g.13884944A>C | CA401994853 | MC2R | c.575T>G (p.Leu192Arg)
| |
| 18 | g.13884944A>G | CA401994854 | MC2R | c.575T>C (p.Leu192Pro)
| |
| 18 | g.13884944A>T | CA401994856 | MC2R | c.575T>A (p.Leu192His)
| |
| 18 | g.13884945G>A | CA401994857 | MC2R | c.574C>T (p.Leu192Phe)
| |
| 18 | g.13884945G>C | CA401994858 | MC2R | c.574C>G (p.Leu192Val)
| |
| 18 | g.13884945G>T | CA401994859 | MC2R | c.574C>A (p.Leu192Ile)
| |
| 18 | g.13884946G>A | CA8902448 | MC2R | c.573C>T (p.Cys191=)
| dbSNP ExAC gnomAD v2 COSMIC |
| 18 | g.13884946G>C | CA401994862 | MC2R | c.573C>G (p.Cys191Trp)
| |
| 18 | g.13884946G= | CA2285919349 | MC2R | c.573C= (p.Cys191=)
| |
| 18 | g.13884946G>T | CA401994863 | MC2R | c.573C>A (p.Cys191Ter)
| ClinVar dbSNP |
| 18 | g.13884947C>A | CA401994867 | MC2R | c.572G>T (p.Cys191Phe)
| |
| 18 | g.13884947C= | CA2285919350 | MC2R | c.572G= (p.Cys191=)
| |
| 18 | g.13884947C>G | CA401994869 | MC2R | c.572G>C (p.Cys191Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884947C>T | CA401994865 | MC2R | c.572G>A (p.Cys191Tyr)
| gnomAD v4 |
| 18 | g.13884948A>C | CA401994871 | MC2R | c.571T>G (p.Cys191Gly)
| |
| 18 | g.13884948A>G | CA401994873 | MC2R | c.571T>C (p.Cys191Arg)
| gnomAD v4 |
| 18 | g.13884948A>T | CA401994876 | MC2R | c.571T>A (p.Cys191Ser)
| |
| 18 | g.13884949C>A | CA503248459 | MC2R | c.570G>T (p.Leu190=)
| |
| 18 | g.13884949C>G | CA503248461 | MC2R | c.570G>C (p.Leu190=)
| |
| 18 | g.13884949C>T | CA503248460 | MC2R | c.570G>A (p.Leu190=)
| |
| 18 | g.13884950A>C | CA401994877 | MC2R | c.569T>G (p.Leu190Arg)
| ClinVar |
| 18 | g.13884950A>G | CA401994878 | MC2R | c.569T>C (p.Leu190Pro)
| |
| 18 | g.13884950A>T | CA401994880 | MC2R | c.569T>A (p.Leu190Gln)
| |
| 18 | g.13884951G>A | CA503248464 | MC2R | c.568C>T (p.Leu190=)
| gnomAD v4 |
| 18 | g.13884951G>C | CA401994883 | MC2R | c.568C>G (p.Leu190Val)
| |
| 18 | g.13884951G>T | CA401994885 | MC2R | c.568C>A (p.Leu190Met)
| |
| 18 | g.13884952G>A | CA296828730 | MC2R | c.567C>T (p.Ile189=)
| dbSNP COSMIC |
| 18 | g.13884952G>C | CA401994888 | MC2R | c.567C>G (p.Ile189Met)
| |
| 18 | g.13884952G= | CA2285919351 | MC2R | c.567C= (p.Ile189=)
| |
| 18 | g.13884952G>T | CA503248466 | MC2R | c.567C>A (p.Ile189=)
| |
| 18 | g.13884953A>C | CA401994891 | MC2R | c.566T>G (p.Ile189Ser)
| |
| 18 | g.13884953A>G | CA401994893 | MC2R | c.566T>C (p.Ile189Thr)
| gnomAD v4 |
| 18 | g.13884953A>T | CA401994894 | MC2R | c.566T>A (p.Ile189Asn)
| |
| 18 | g.13884954T>A | CA401994897 | MC2R | c.565A>T (p.Ile189Phe)
| |
| 18 | g.13884954T>C | CA401994900 | MC2R | c.565A>G (p.Ile189Val)
| |
| 18 | g.13884954T>G | CA401994899 | MC2R | c.565A>C (p.Ile189Leu)
| |
| 18 | g.13884955G>A | CA8902449 | MC2R | c.564C>T (p.Phe188=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884955G>C | CA401994907 | MC2R | c.564C>G (p.Phe188Leu)
| |
| 18 | g.13884955G= | CA2285919352 | MC2R | c.564C= (p.Phe188=)
| |
| 18 | g.13884955G>T | CA401994904 | MC2R | c.564C>A (p.Phe188Leu)
| |
| 18 | g.13884956A>C | CA401994909 | MC2R | c.563T>G (p.Phe188Cys)
| |
| 18 | g.13884956A>G | CA401994910 | MC2R | c.563T>C (p.Phe188Ser)
| |
| 18 | g.13884956A>T | CA401994911 | MC2R | c.563T>A (p.Phe188Tyr)
| |
| 18 | g.13884957A>C | CA401994912 | MC2R | c.562T>G (p.Phe188Val)
| |
| 18 | g.13884957A>G | CA401994913 | MC2R | c.562T>C (p.Phe188Leu)
| gnomAD v4 |
| 18 | g.13884957A>T | CA401994915 | MC2R | c.562T>A (p.Phe188Ile)
| |
| 18 | g.13884958G>A | CA503248473 | MC2R | c.561C>T (p.Val187=)
| gnomAD v4 |
| 18 | g.13884958G>C | CA503248475 | MC2R | c.561C>G (p.Val187=)
| |
| 18 | g.13884958G>T | CA503248477 | MC2R | c.561C>A (p.Val187=)
| |
| 18 | g.13884958_13884959delinsGA | CA2285919353 | MC2R | c.560_561delinsTC (p.Val187=)
| |
| 18 | g.13884959del | CA658684182 | MC2R | c.560del (p.Val187AlafsTer29)
| ClinVar dbSNP |
| 18 | g.13884959A>C | CA401994917 | MC2R | c.560T>G (p.Val187Gly)
| |
| 18 | g.13884959A>G | CA401994918 | MC2R | c.560T>C (p.Val187Ala)
| |
| 18 | g.13884959A>T | CA401994920 | MC2R | c.560T>A (p.Val187Asp)
| |
| 18 | g.13884959_13884960delinsAC | CA2285919354 | MC2R | c.559_560delinsGT (p.Val187=)
| |
| 18 | g.13884960C>A | CA401994923 | MC2R | c.559G>T (p.Val187Phe)
| |
| 18 | g.13884960C= | CA2285919355 | MC2R | c.559G= (p.Val187=)
| |
| 18 | g.13884960C>G | CA8902450 | MC2R | c.559G>C (p.Val187Leu)
| dbSNP ExAC gnomAD v2 |
| 18 | g.13884960C>T | CA401994926 | MC2R | c.559G>A (p.Val187Ile)
| COSMIC |
| 18 | g.13884961del | CA988025243 | MC2R | c.559del (p.Val187SerfsTer29)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884961C>A | CA503248481 | MC2R | c.558G>T (p.Leu186=)
| dbSNP |
| 18 | g.13884961C= | CA2285919356 | MC2R | c.558G= (p.Leu186=)
| |
| 18 | g.13884961C>G | CA503248483 | MC2R | c.558G>C (p.Leu186=)
| |
| 18 | g.13884961C>T | CA503248486 | MC2R | c.558G>A (p.Leu186=)
| |
| 18 | g.13884962A>C | CA401994933 | MC2R | c.557T>G (p.Leu186Arg)
| |
| 18 | g.13884962A>G | CA401994928 | MC2R | c.557T>C (p.Leu186Pro)
| |
| 18 | g.13884962A>T | CA401994930 | MC2R | c.557T>A (p.Leu186Gln)
| |
| 18 | g.13884963G>A | CA503248488 | MC2R | c.556C>T (p.Leu186=)
| |
| 18 | g.13884963G>C | CA401994935 | MC2R | c.556C>G (p.Leu186Val)
| |
| 18 | g.13884963G>T | CA401994937 | MC2R | c.556C>A (p.Leu186Met)
| |
| 18 | g.13884964C>A | CA401994939 | MC2R | c.555G>T (p.Met185Ile)
| |
| 18 | g.13884964C>G | CA401994942 | MC2R | c.555G>C (p.Met185Ile)
| |
| 18 | g.13884964C>T | CA401994943 | MC2R | c.555G>A (p.Met185Ile)
| |
| 18 | g.13884965A>C | CA401994945 | MC2R | c.554T>G (p.Met185Arg)
| |
| 18 | g.13884965A>G | CA401994947 | MC2R | c.554T>C (p.Met185Thr)
| |
| 18 | g.13884965A>T | CA401994948 | MC2R | c.554T>A (p.Met185Lys)
| |
| 18 | g.13884966T>A | CA401994951 | MC2R | c.553A>T (p.Met185Leu)
| gnomAD v4 |
| 18 | g.13884966T>C | CA401994953 | MC2R | c.553A>G (p.Met185Val)
| |
| 18 | g.13884966T>G | CA401994954 | MC2R | c.553A>C (p.Met185Leu)
| |
| 18 | g.13884967C>A | CA503248501 | MC2R | c.552G>T (p.Leu184=)
| dbSNP gnomAD v4 |
| 18 | g.13884967C= | CA2285919357 | MC2R | c.552G= (p.Leu184=)
| |
| 18 | g.13884967C>G | CA503248503 | MC2R | c.552G>C (p.Leu184=)
| |
| 18 | g.13884967C>T | CA503248504 | MC2R | c.552G>A (p.Leu184=)
| dbSNP COSMIC |
| 18 | g.13884968A>C | CA401994961 | MC2R | c.551T>G (p.Leu184Arg)
| |
| 18 | g.13884968A>G | CA401994958 | MC2R | c.551T>C (p.Leu184Pro)
| |
| 18 | g.13884968A>T | CA401994957 | MC2R | c.551T>A (p.Leu184Gln)
| |
| 18 | g.13884969G>A | CA503248507 | MC2R | c.550C>T (p.Leu184=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.13884969G>C | CA401994963 | MC2R | c.550C>G (p.Leu184Val)
| |
| 18 | g.13884969G= | CA2285919358 | MC2R | c.550C= (p.Leu184=)
| |
| 18 | g.13884969G>T | CA401994964 | MC2R | c.550C>A (p.Leu184Met)
| dbSNP gnomAD v4 |
| 18 | g.13884970C>A | CA8902452 | MC2R | c.549G>T (p.Pro183=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884970C= | CA2285919359 | MC2R | c.549G= (p.Pro183=)
| |
| 18 | g.13884970C>G | CA503248511 | MC2R | c.549G>C (p.Pro183=)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884970C>T | CA8902451 | MC2R | c.549G>A (p.Pro183=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884971G>A | CA8902453 | MC2R | c.548C>T (p.Pro183Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13884971G>C | CA401994968 | MC2R | c.548C>G (p.Pro183Arg)
| |
| 18 | g.13884971G= | CA2285919360 | MC2R | c.548C= (p.Pro183=)
| |
| 18 | g.13884971G>T | CA401994969 | MC2R | c.548C>A (p.Pro183Gln)
| |
| 18 | g.13884972G>A | CA8902454 | MC2R | c.547C>T (p.Pro183Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884972G>C | CA401994972 | MC2R | c.547C>G (p.Pro183Ala)
| |
| 18 | g.13884972G= | CA2285919361 | MC2R | c.547C= (p.Pro183=)
| |
| 18 | g.13884972G>T | CA401994973 | MC2R | c.547C>A (p.Pro183Thr)
| |
| 18 | g.13884973G>A | CA503248520 | MC2R | c.546C>T (p.Phe182=)
| |
| 18 | g.13884973G>C | CA401994977 | MC2R | c.546C>G (p.Phe182Leu)
| |
| 18 | g.13884973G>T | CA401994978 | MC2R | c.546C>A (p.Phe182Leu)
| gnomAD v4 COSMIC |
| 18 | g.13884974A>C | CA401994983 | MC2R | c.545T>G (p.Phe182Cys)
| |
| 18 | g.13884974A>G | CA401994981 | MC2R | c.545T>C (p.Phe182Ser)
| |
| 18 | g.13884974A>T | CA401994979 | MC2R | c.545T>A (p.Phe182Tyr)
| |
