| 18 | g.13885436T>A | CA401996012 | MC2R | c.83A>T (p.Glu28Val)
| |
| 18 | g.13885436T>C | CA401996013 | MC2R | c.83A>G (p.Glu28Gly)
| |
| 18 | g.13885436T>G | CA401996014 | MC2R | c.83A>C (p.Glu28Ala)
| dbSNP |
| 18 | g.13885437C>A | CA401996015 | MC2R | c.82G>T (p.Glu28Ter)
| COSMIC |
| 18 | g.13885437C= | CA2285919558 | MC2R | c.82G= (p.Glu28=)
| |
| 18 | g.13885437C>G | CA401996016 | MC2R | c.82G>C (p.Glu28Gln)
| |
| 18 | g.13885437C>T | CA8902543 | MC2R | c.82G>A (p.Glu28Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885438C>A | CA503248479 | MC2R | c.81G>T (p.Pro27=)
| |
| 18 | g.13885438C= | CA2285919559 | MC2R | c.81G= (p.Pro27=)
| |
| 18 | g.13885438C>G | CA503248480 | MC2R | c.81G>C (p.Pro27=)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885438C>T | CA8902544 | MC2R | c.81G>A (p.Pro27=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885439G>A | CA8902546 | MC2R | c.80C>T (p.Pro27Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885439G>C | CA8902545 | MC2R | c.80C>G (p.Pro27Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885439G= | CA2285919560 | MC2R | c.80C= (p.Pro27=)
| |
| 18 | g.13885439G>T | CA8902547 | MC2R | c.80C>A (p.Pro27Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885440G>A | CA401996017 | MC2R | c.79C>T (p.Pro27Ser)
| |
| 18 | g.13885440G>C | CA401996018 | MC2R | c.79C>G (p.Pro27Ala)
| |
| 18 | g.13885440G>T | CA401996019 | MC2R | c.79C>A (p.Pro27Thr)
| |
| 18 | g.13885441C>A | CA401996020 | MC2R | c.78G>T (p.Leu26Phe)
| gnomAD v4 |
| 18 | g.13885441C= | CA2285919561 | MC2R | c.78G= (p.Leu26=)
| |
| 18 | g.13885441C>G | CA401996021 | MC2R | c.78G>C (p.Leu26Phe)
| gnomAD v4 |
| 18 | g.13885441C>T | CA503248487 | MC2R | c.78G>A (p.Leu26=)
| dbSNP |
| 18 | g.13885442A>C | CA401996022 | MC2R | c.77T>G (p.Leu26Trp)
| |
| 18 | g.13885442A>G | CA401996023 | MC2R | c.77T>C (p.Leu26Ser)
| |
| 18 | g.13885442A>T | CA401996024 | MC2R | c.77T>A (p.Leu26Ter)
| |
| 18 | g.13885443A>C | CA401996025 | MC2R | c.76T>G (p.Leu26Val)
| |
| 18 | g.13885443A>G | CA503248491 | MC2R | c.76T>C (p.Leu26=)
| |
| 18 | g.13885443A>T | CA401996026 | MC2R | c.76T>A (p.Leu26Met)
| |
| 18 | g.13885444A>C | CA503248493 | MC2R | c.75T>G (p.Val25=)
| |
| 18 | g.13885444A>G | CA503248494 | MC2R | c.75T>C (p.Val25=)
| |
| 18 | g.13885444A>T | CA503248495 | MC2R | c.75T>A (p.Val25=)
| |
| 18 | g.13885445A>C | CA401996028 | MC2R | c.74T>G (p.Val25Gly)
| |
| 18 | g.13885445A>G | CA401996029 | MC2R | c.74T>C (p.Val25Ala)
| gnomAD v4 |
| 18 | g.13885445A>T | CA401996027 | MC2R | c.74T>A (p.Val25Asp)
| |
| 18 | g.13885446C>A | CA401996031 | MC2R | c.73G>T (p.Val25Phe)
| gnomAD v4 COSMIC |
| 18 | g.13885446C= | CA2285919562 | MC2R | c.73G= (p.Val25=)
| |
| 18 | g.13885446C>G | CA401996030 | MC2R | c.73G>C (p.Val25Leu)
| |
| 18 | g.13885446C>T | CA8902548 | MC2R | c.73G>A (p.Val25Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885447C>A | CA503248498 | MC2R | c.72G>T (p.Val24=)
| |
| 18 | g.13885447C>G | CA503248502 | MC2R | c.72G>C (p.Val24=)
| |
| 18 | g.13885447C>T | CA503248500 | MC2R | c.72G>A (p.Val24=)
| gnomAD v4 |
| 18 | g.13885448A>C | CA401996032 | MC2R | c.71T>G (p.Val24Gly)
| |
| 18 | g.13885448A>G | CA401996033 | MC2R | c.71T>C (p.Val24Ala)
| gnomAD v4 |
| 18 | g.13885448A>T | CA401996034 | MC2R | c.71T>A (p.Val24Glu)
| |
| 18 | g.13885449C>A | CA401996037 | MC2R | c.70G>T (p.Val24Leu)
| gnomAD v4 |
| 18 | g.13885449C>G | CA401996036 | MC2R | c.70G>C (p.Val24Leu)
| |
| 18 | g.13885449C>T | CA401996035 | MC2R | c.70G>A (p.Val24Met)
| |
| 18 | g.13885450A= | CA2285919563 | MC2R | c.69T= (p.Arg23=)
| |
| 18 | g.13885450A>C | CA503248505 | MC2R | c.69T>G (p.Arg23=)
| |
| 18 | g.13885450A>G | CA503248506 | MC2R | c.69T>C (p.Arg23=)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885450A>T | CA503248509 | MC2R | c.69T>A (p.Arg23=)
| |
| 18 | g.13885451C>A | CA8902549 | MC2R | c.68G>T (p.Arg23Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885451C= | CA2285919564 | MC2R | c.68G= (p.Arg23=)
| |
| 18 | g.13885451C>G | CA296828915 | MC2R | c.68G>C (p.Arg23Pro)
| dbSNP |
| 18 | g.13885451C>T | CA8902550 | MC2R | c.68G>A (p.Arg23His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885452G>A | CA401996038 | MC2R | c.67C>T (p.Arg23Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885452G>C | CA401996039 | MC2R | c.67C>G (p.Arg23Gly)
| |
| 18 | g.13885452G= | CA2285919565 | MC2R | c.67C= (p.Arg23=)
| |
| 18 | g.13885452G>T | CA296828918 | MC2R | c.67C>A (p.Arg23Ser)
| dbSNP gnomAD v4 |
| 18 | g.13885453A>C | CA503248512 | MC2R | c.66T>G (p.Pro22=)
| |
| 18 | g.13885453A>G | CA503248514 | MC2R | c.66T>C (p.Pro22=)
| |
| 18 | g.13885453A>T | CA503248515 | MC2R | c.66T>A (p.Pro22=)
| |
| 18 | g.13885454G>A | CA401996040 | MC2R | c.65C>T (p.Pro22Leu)
| dbSNP gnomAD v4 |
| 18 | g.13885454G>C | CA401996042 | MC2R | c.65C>G (p.Pro22Arg)
| |
| 18 | g.13885454G= | CA2285919566 | MC2R | c.65C= (p.Pro22=)
| |
| 18 | g.13885454G>T | CA401996041 | MC2R | c.65C>A (p.Pro22His)
| |
| 18 | g.13885455G>A | CA401996043 | MC2R | c.64C>T (p.Pro22Ser)
| |
| 18 | g.13885455G>C | CA401996044 | MC2R | c.64C>G (p.Pro22Ala)
| |
| 18 | g.13885455G>T | CA401996045 | MC2R | c.64C>A (p.Pro22Thr)
| |
| 18 | g.13885456A>C | CA401996046 | MC2R | c.63T>G (p.Cys21Trp)
| |
| 18 | g.13885456A>G | CA503248516 | MC2R | c.63T>C (p.Cys21=)
| gnomAD v4 |
| 18 | g.13885456A>T | CA401996047 | MC2R | c.63T>A (p.Cys21Ter)
| |
| 18 | g.13885457C>A | CA401996048 | MC2R | c.62G>T (p.Cys21Phe)
| |
| 18 | g.13885457C>G | CA401996049 | MC2R | c.62G>C (p.Cys21Ser)
| |
| 18 | g.13885457C>T | CA401996050 | MC2R | c.62G>A (p.Cys21Tyr)
| |
| 18 | g.13885458A= | CA2285919567 | MC2R | c.61T= (p.Cys21=)
| |
| 18 | g.13885458A>C | CA401996051 | MC2R | c.61T>G (p.Cys21Gly)
| |
| 18 | g.13885458A>G | CA401996052 | MC2R | c.61T>C (p.Cys21Arg)
| dbSNP |
| 18 | g.13885458A>T | CA401996053 | MC2R | c.61T>A (p.Cys21Ser)
| |
| 18 | g.13885459G>A | CA503248521 | MC2R | c.60C>T (p.Asp20=)
| |
| 18 | g.13885459G>C | CA401996054 | MC2R | c.60C>G (p.Asp20Glu)
| |
| 18 | g.13885459G>T | CA401996055 | MC2R | c.60C>A (p.Asp20Glu)
| |
| 18 | g.13885460T>A | CA401996056 | MC2R | c.59A>T (p.Asp20Val)
| |
| 18 | g.13885460T>C | CA401996057 | MC2R | c.59A>G (p.Asp20Gly)
| |
| 18 | g.13885460T>G | CA401996058 | MC2R | c.59A>C (p.Asp20Ala)
| |
| 18 | g.13885461C>A | CA401996059 | MC2R | c.58G>T (p.Asp20Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885461C= | CA2285919568 | MC2R | c.58G= (p.Asp20=)
| |
| 18 | g.13885461C>G | CA401996060 | MC2R | c.58G>C (p.Asp20His)
| gnomAD v4 COSMIC |
| 18 | g.13885461C>T | CA8902551 | MC2R | c.58G>A (p.Asp20Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.13885462G>A | CA8902552 | MC2R | c.57C>T (p.Ser19=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885462G>C | CA503248526 | MC2R | c.57C>G (p.Ser19=)
| |
| 18 | g.13885462G= | CA2285919569 | MC2R | c.57C= (p.Ser19=)
| |
| 18 | g.13885462G>T | CA503248525 | MC2R | c.57C>A (p.Ser19=)
| |
| 18 | g.13885463G>A | CA401996061 | MC2R | c.56C>T (p.Ser19Phe)
| |
| 18 | g.13885463G>C | CA401996062 | MC2R | c.56C>G (p.Ser19Cys)
| dbSNP |
| 18 | g.13885463G= | CA2285919570 | MC2R | c.56C= (p.Ser19=)
| |
| 18 | g.13885463G>T | CA296828922 | MC2R | c.56C>A (p.Ser19Tyr)
| dbSNP |
| 18 | g.13885464A= | CA2285919571 | MC2R | c.55T= (p.Ser19=)
| |
| 18 | g.13885464A>C | CA401996063 | MC2R | c.55T>G (p.Ser19Ala)
| |
| 18 | g.13885464A>G | CA401996064 | MC2R | c.55T>C (p.Ser19Pro)
| dbSNP gnomAD v4 |
| 18 | g.13885464A>T | CA401996065 | MC2R | c.55T>A (p.Ser19Thr)
| |
| 18 | g.13885465A>C | CA401996067 | MC2R | c.54T>G (p.Asn18Lys)
| |
| 18 | g.13885465A>G | CA503248530 | MC2R | c.54T>C (p.Asn18=)
| |
| 18 | g.13885465A>T | CA401996066 | MC2R | c.54T>A (p.Asn18Lys)
| |
| 18 | g.13885466T>A | CA401996068 | MC2R | c.53A>T (p.Asn18Ile)
| |
| 18 | g.13885466T>C | CA401996069 | MC2R | c.53A>G (p.Asn18Ser)
| |
| 18 | g.13885466T>G | CA401996070 | MC2R | c.53A>C (p.Asn18Thr)
| |
| 18 | g.13885467T>A | CA401996071 | MC2R | c.52A>T (p.Asn18Tyr)
| |
| 18 | g.13885467T>C | CA401996072 | MC2R | c.52A>G (p.Asn18Asp)
| |
| 18 | g.13885467T>G | CA401996073 | MC2R | c.52A>C (p.Asn18His)
| |
| 18 | g.13885468A>C | CA401996074 | MC2R | c.51T>G (p.Asn17Lys)
| |
| 18 | g.13885468A>G | CA503248535 | MC2R | c.51T>C (p.Asn17=)
| |
| 18 | g.13885468A>T | CA401996075 | MC2R | c.51T>A (p.Asn17Lys)
| |
| 18 | g.13885469T>A | CA401996076 | MC2R | c.50A>T (p.Asn17Ile)
| |
| 18 | g.13885469T>C | CA401996077 | MC2R | c.50A>G (p.Asn17Ser)
| |
| 18 | g.13885469T>G | CA401996078 | MC2R | c.50A>C (p.Asn17Thr)
| |
| 18 | g.13885470T>A | CA401996079 | MC2R | c.49A>T (p.Asn17Tyr)
| |
| 18 | g.13885470T>C | CA401996080 | MC2R | c.49A>G (p.Asn17Asp)
| |
| 18 | g.13885470T>G | CA401996081 | MC2R | c.49A>C (p.Asn17His)
| |
| 18 | g.13885471T>A | CA296828924 | MC2R | c.48A>T (p.Arg16Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885471T>C | CA503248539 | MC2R | c.48A>G (p.Arg16=)
| |
| 18 | g.13885471T>G | CA401996082 | MC2R | c.48A>C (p.Arg16Ser)
| |
| 18 | g.13885471T= | CA2285919572 | MC2R | c.48A= (p.Arg16=)
| |
| 18 | g.13885472C>A | CA401996083 | MC2R | c.47G>T (p.Arg16Ile)
| gnomAD v4 |
| 18 | g.13885472C>G | CA401996085 | MC2R | c.47G>C (p.Arg16Thr)
| |
| 18 | g.13885472C>T | CA401996084 | MC2R | c.47G>A (p.Arg16Lys)
| |
| 18 | g.13885473T>A | CA401996086 | MC2R | c.46A>T (p.Arg16Ter)
| gnomAD v4 |
| 18 | g.13885473T>C | CA401996087 | MC2R | c.46A>G (p.Arg16Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885473T>G | CA503248541 | MC2R | c.46A>C (p.Arg16=)
| |
| 18 | g.13885473T= | CA2285919573 | MC2R | c.46A= (p.Arg16=)
| |
| 18 | g.13885474T>A | CA503248543 | MC2R | c.45A>T (p.Ala15=)
| |
| 18 | g.13885474T>C | CA503248544 | MC2R | c.45A>G (p.Ala15=)
| |
| 18 | g.13885474T>G | CA503248546 | MC2R | c.45A>C (p.Ala15=)
| |
| 18 | g.13885475G>A | CA401996088 | MC2R | c.44C>T (p.Ala15Val)
| |
| 18 | g.13885475G>C | CA401996089 | MC2R | c.44C>G (p.Ala15Gly)
| |
| 18 | g.13885475G>T | CA401996090 | MC2R | c.44C>A (p.Ala15Glu)
| |
| 18 | g.13885476C>A | CA401996091 | MC2R | c.43G>T (p.Ala15Ser)
| |
| 18 | g.13885476C>G | CA401996092 | MC2R | c.43G>C (p.Ala15Pro)
| |
| 18 | g.13885476C>T | CA401996093 | MC2R | c.43G>A (p.Ala15Thr)
| gnomAD v4 |
| 18 | g.13885477T>A | CA503248553 | MC2R | c.42A>T (p.Thr14=)
| |
| 18 | g.13885477T>C | CA503248548 | MC2R | c.42A>G (p.Thr14=)
| |
| 18 | g.13885477T>G | CA503248550 | MC2R | c.42A>C (p.Thr14=)
| |
| 18 | g.13885478G>A | CA401996094 | MC2R | c.41C>T (p.Thr14Ile)
| gnomAD v4 |
| 18 | g.13885478G>C | CA401996095 | MC2R | c.41C>G (p.Thr14Arg)
| |
| 18 | g.13885478G>T | CA401996096 | MC2R | c.41C>A (p.Thr14Lys)
| |
| 18 | g.13885479T>A | CA401996097 | MC2R | c.40A>T (p.Thr14Ser)
| |
| 18 | g.13885479T>C | CA401996098 | MC2R | c.40A>G (p.Thr14Ala)
| |
| 18 | g.13885479T>G | CA401996099 | MC2R | c.40A>C (p.Thr14Pro)
| |
| 18 | g.13885484_13885486del | CA2641148028 | MC2R | c.38_40del (p.Asn13del)
| gnomAD v4 |
| 18 | g.13885480G>A | CA503248557 | MC2R | c.39C>T (p.Asn13=)
| |
| 18 | g.13885480G>C | CA401996100 | MC2R | c.39C>G (p.Asn13Lys)
| |
| 18 | g.13885480G>T | CA401996101 | MC2R | c.39C>A (p.Asn13Lys)
| |
| 18 | g.13885481T>A | CA401996102 | MC2R | c.38A>T (p.Asn13Ile)
| |
| 18 | g.13885481T>C | CA401996103 | MC2R | c.38A>G (p.Asn13Ser)
| gnomAD v4 |
| 18 | g.13885481T>G | CA401996104 | MC2R | c.38A>C (p.Asn13Thr)
| |
| 18 | g.13885481_13885487delinsTTGTTGA | CA2285919574 | MC2R | c.32_38delinsTCAACAA (p.Ile11=)
| |
| 18 | g.13885482T>A | CA401996105 | MC2R | c.37A>T (p.Asn13Tyr)
| |
| 18 | g.13885482T>C | CA401996106 | MC2R | c.37A>G (p.Asn13Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885482T>G | CA401996107 | MC2R | c.37A>C (p.Asn13His)
| |
| 18 | g.13885482T= | CA2285919575 | MC2R | c.37A= (p.Asn13=)
| |
| 18 | g.13885486_13885491del | CA8902553 | MC2R | c.32_37del (p.Ile11_Asn12del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885483del | CA2641148029 | MC2R | c.36del (p.Asn12LysfsTer?)
| gnomAD v4 |
| 18 | g.13885483G>A | CA503248561 | MC2R | c.36C>T (p.Asn12=)
| gnomAD v4 |
| 18 | g.13885483G>C | CA401996108 | MC2R | c.36C>G (p.Asn12Lys)
| |
| 18 | g.13885483G>T | CA401996109 | MC2R | c.36C>A (p.Asn12Lys)
| |
| 18 | g.13885484T>A | CA401996110 | MC2R | c.35A>T (p.Asn12Ile)
| |
| 18 | g.13885484T>C | CA296828927 | MC2R | c.35A>G (p.Asn12Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885484T>G | CA401996111 | MC2R | c.35A>C (p.Asn12Thr)
| |
| 18 | g.13885484T= | CA2285919576 | MC2R | c.35A= (p.Asn12=)
| |
| 18 | g.13885485T>A | CA401996112 | MC2R | c.34A>T (p.Asn12Tyr)
| |
| 18 | g.13885485T>C | CA401996114 | MC2R | c.34A>G (p.Asn12Asp)
| |
| 18 | g.13885485T>G | CA401996113 | MC2R | c.34A>C (p.Asn12His)
| |
| 18 | g.13885486G>A | CA503248565 | MC2R | c.33C>T (p.Ile11=)
| dbSNP COSMIC |
| 18 | g.13885486G>C | CA296828929 | MC2R | c.33C>G (p.Ile11Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885486G= | CA2285919577 | MC2R | c.33C= (p.Ile11=)
| |
| 18 | g.13885486G>T | CA503248567 | MC2R | c.33C>A (p.Ile11=)
| |
| 18 | g.13885487A>C | CA401996115 | MC2R | c.32T>G (p.Ile11Ser)
| |
| 18 | g.13885487A>G | CA401996116 | MC2R | c.32T>C (p.Ile11Thr)
| |
| 18 | g.13885487A>T | CA401996117 | MC2R | c.32T>A (p.Ile11Asn)
| gnomAD v4 |
| 18 | g.13885488T>A | CA401996118 | MC2R | c.31A>T (p.Ile11Phe)
| gnomAD v4 |
| 18 | g.13885488T>C | CA401996119 | MC2R | c.31A>G (p.Ile11Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885488T>G | CA401996120 | MC2R | c.31A>C (p.Ile11Leu)
| |
| 18 | g.13885488T= | CA2285919578 | MC2R | c.31A= (p.Ile11=)
| |
| 18 | g.13885489G>A | CA8902554 | MC2R | c.30C>T (p.Asn10=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885489G>C | CA401996121 | MC2R | c.30C>G (p.Asn10Lys)
| |
| 18 | g.13885489G= | CA2285919579 | MC2R | c.30C= (p.Asn10=)
| |
| 18 | g.13885489G>T | CA401996122 | MC2R | c.30C>A (p.Asn10Lys)
| |
| 18 | g.13885490T>A | CA401996123 | MC2R | c.29A>T (p.Asn10Ile)
| |
| 18 | g.13885490T>C | CA8902555 | MC2R | c.29A>G (p.Asn10Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885490T>G | CA401996124 | MC2R | c.29A>C (p.Asn10Thr)
| gnomAD v4 |
| 18 | g.13885490T= | CA2285919580 | MC2R | c.29A= (p.Asn10=)
| |
| 18 | g.13885491T>A | CA401996125 | MC2R | c.28A>T (p.Asn10Tyr)
| |
| 18 | g.13885491T>C | CA401996127 | MC2R | c.28A>G (p.Asn10Asp)
| |
| 18 | g.13885491T>G | CA401996126 | MC2R | c.28A>C (p.Asn10His)
| |
| 18 | g.13885492T>A | CA401996128 | MC2R | c.27A>T (p.Glu9Asp)
| |
| 18 | g.13885492T>C | CA503248572 | MC2R | c.27A>G (p.Glu9=)
| gnomAD v4 |
| 18 | g.13885492T>G | CA401996129 | MC2R | c.27A>C (p.Glu9Asp)
| |
| 18 | g.13885493T>A | CA401996130 | MC2R | c.26A>T (p.Glu9Val)
| |
| 18 | g.13885493T>C | CA401996131 | MC2R | c.26A>G (p.Glu9Gly)
| |
| 18 | g.13885493T>G | CA401996132 | MC2R | c.26A>C (p.Glu9Ala)
| |
| 18 | g.13885494C>A | CA401996133 | MC2R | c.25G>T (p.Glu9Ter)
| |
| 18 | g.13885494C>G | CA401996134 | MC2R | c.25G>C (p.Glu9Gln)
| |
| 18 | g.13885494C>T | CA401996135 | MC2R | c.25G>A (p.Glu9Lys)
| |
| 18 | g.13885495A= | CA2285919581 | MC2R | c.24T= (p.Tyr8=)
| |
| 18 | g.13885495A>C | CA401996136 | MC2R | c.24T>G (p.Tyr8Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13885495A>G | CA503248577 | MC2R | c.24T>C (p.Tyr8=)
| |
| 18 | g.13885495A>T | CA401996137 | MC2R | c.24T>A (p.Tyr8Ter)
| gnomAD v4 |
| 18 | g.13885496T>A | CA401996139 | MC2R | c.23A>T (p.Tyr8Phe)
| |
| 18 | g.13885496T>C | CA401996140 | MC2R | c.23A>G (p.Tyr8Cys)
| gnomAD v4 |
| 18 | g.13885496T>G | CA401996138 | MC2R | c.23A>C (p.Tyr8Ser)
| |
| 18 | g.13885497A>C | CA401996143 | MC2R | c.22T>G (p.Tyr8Asp)
| |
| 18 | g.13885497A>G | CA401996141 | MC2R | c.22T>C (p.Tyr8His)
| |
| 18 | g.13885497A>T | CA401996142 | MC2R | c.22T>A (p.Tyr8Asn)
| |
| 18 | g.13885498C>A | CA503248581 | MC2R | c.21G>T (p.Ser7=)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885498C= | CA2285919582 | MC2R | c.21G= (p.Ser7=)
| |
| 18 | g.13885498C>G | CA503248583 | MC2R | c.21G>C (p.Ser7=)
| gnomAD v4 |
| 18 | g.13885498C>T | CA8902556 | MC2R | c.21G>A (p.Ser7=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885499G>A | CA8902557 | MC2R | c.20C>T (p.Ser7Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.13885499G>C | CA401996144 | MC2R | c.20C>G (p.Ser7Trp)
| gnomAD v4 |
| 18 | g.13885499G= | CA2285919583 | MC2R | c.20C= (p.Ser7=)
| |
| 18 | g.13885499G>T | CA401996145 | MC2R | c.20C>A (p.Ser7Ter)
| gnomAD v4 |
| 18 | g.13885500A>C | CA401996148 | MC2R | c.19T>G (p.Ser7Ala)
| |
| 18 | g.13885500A>G | CA401996146 | MC2R | c.19T>C (p.Ser7Pro)
| |
| 18 | g.13885500A>T | CA401996147 | MC2R | c.19T>A (p.Ser7Thr)
| |
| 18 | g.13885501G>A | CA503248584 | MC2R | c.18C>T (p.Asn6=)
| |
| 18 | g.13885501G>C | CA401996149 | MC2R | c.18C>G (p.Asn6Lys)
| |
| 18 | g.13885501G>T | CA401996150 | MC2R | c.18C>A (p.Asn6Lys)
| |
| 18 | g.13885502T>A | CA401996151 | MC2R | c.17A>T (p.Asn6Ile)
| |
| 18 | g.13885502T>C | CA401996152 | MC2R | c.17A>G (p.Asn6Ser)
| |
| 18 | g.13885502T>G | CA401996153 | MC2R | c.17A>C (p.Asn6Thr)
| |
| 18 | g.13885503T>A | CA401996154 | MC2R | c.16A>T (p.Asn6Tyr)
| |
| 18 | g.13885503T>C | CA401996156 | MC2R | c.16A>G (p.Asn6Asp)
| |
| 18 | g.13885503T>G | CA401996155 | MC2R | c.16A>C (p.Asn6His)
| |
| 18 | g.13885504G>A | CA503248588 | MC2R | c.15C>T (p.Ile5=)
| |
| 18 | g.13885504G>C | CA401996157 | MC2R | c.15C>G (p.Ile5Met)
| |
| 18 | g.13885504G>T | CA503248589 | MC2R | c.15C>A (p.Ile5=)
| dbSNP |
| 18 | g.13885505A>C | CA401996158 | MC2R | c.14T>G (p.Ile5Ser)
| |
| 18 | g.13885505A>G | CA401996159 | MC2R | c.14T>C (p.Ile5Thr)
| |
| 18 | g.13885505A>T | CA401996160 | MC2R | c.14T>A (p.Ile5Asn)
| COSMIC |
| 18 | g.13885506T>A | CA401996161 | MC2R | c.13A>T (p.Ile5Phe)
| |
| 18 | g.13885506T>C | CA401996162 | MC2R | c.13A>G (p.Ile5Val)
| |
| 18 | g.13885506T>G | CA401996163 | MC2R | c.13A>C (p.Ile5Leu)
| |
| 18 | g.13885507A>C | CA401996164 | MC2R | c.12T>G (p.Ile4Met)
| |
| 18 | g.13885507A>G | CA503248594 | MC2R | c.12T>C (p.Ile4=)
| |
| 18 | g.13885507A>T | CA503248595 | MC2R | c.12T>A (p.Ile4=)
| |
| 18 | g.13885508A>C | CA401996165 | MC2R | c.11T>G (p.Ile4Ser)
| |
| 18 | g.13885508A>G | CA401996166 | MC2R | c.11T>C (p.Ile4Thr)
| |
| 18 | g.13885508A>T | CA401996167 | MC2R | c.11T>A (p.Ile4Asn)
| |
| 18 | g.13885509T>A | CA401996169 | MC2R | c.10A>T (p.Ile4Phe)
| |
| 18 | g.13885509T>C | CA296828933 | MC2R | c.10A>G (p.Ile4Val)
| dbSNP gnomAD v4 |
| 18 | g.13885509T>G | CA401996168 | MC2R | c.10A>C (p.Ile4Leu)
| gnomAD v4 |
| 18 | g.13885509T= | CA2285919584 | MC2R | c.10A= (p.Ile4=)
| |
| 18 | g.13885510G>A | CA503248596 | MC2R | c.9C>T (p.His3=)
| gnomAD v4 |
| 18 | g.13885510G>C | CA401996170 | MC2R | c.9C>G (p.His3Gln)
| dbSNP gnomAD v4 |
| 18 | g.13885510G= | CA2285919585 | MC2R | c.9C= (p.His3=)
| |
| 18 | g.13885510G>T | CA401996171 | MC2R | c.9C>A (p.His3Gln)
| |
| 18 | g.13885511T>A | CA401996172 | MC2R | c.8A>T (p.His3Leu)
| |
| 18 | g.13885511T>C | CA401996173 | MC2R | c.8A>G (p.His3Arg)
| |
| 18 | g.13885511T>G | CA401996174 | MC2R | c.8A>C (p.His3Pro)
| |
| 18 | g.13885512del | CA2641148030 | MC2R | c.7del (p.His3ThrfsTer?)
| gnomAD v4 |
| 18 | g.13885512G>A | CA401996175 | MC2R | c.7C>T (p.His3Tyr)
| |
| 18 | g.13885512G>C | CA401996176 | MC2R | c.7C>G (p.His3Asp)
| |
| 18 | g.13885512G>T | CA401996177 | MC2R | c.7C>A (p.His3Asn)
| |
| 18 | g.13885513C>A | CA401996178 | MC2R | c.6G>T (p.Lys2Asn)
| dbSNP |
| 18 | g.13885513C= | CA2285919586 | MC2R | c.6G= (p.Lys2=)
| |
| 18 | g.13885513C>G | CA401996179 | MC2R | c.6G>C (p.Lys2Asn)
| |
| 18 | g.13885513C>T | CA503248601 | MC2R | c.6G>A (p.Lys2=)
| gnomAD v4 |
| 18 | g.13885514T>A | CA401996180 | MC2R | c.5A>T (p.Lys2Met)
| |
| 18 | g.13885514T>C | CA401996181 | MC2R | c.5A>G (p.Lys2Arg)
| |
| 18 | g.13885514T>G | CA401996182 | MC2R | c.5A>C (p.Lys2Thr)
| |
| 18 | g.13885515T>A | CA401996185 | MC2R | c.4A>T (p.Lys2Ter)
| |
| 18 | g.13885515T>C | CA401996183 | MC2R | c.4A>G (p.Lys2Glu)
| gnomAD v4 |
| 18 | g.13885515T>G | CA401996184 | MC2R | c.4A>C (p.Lys2Gln)
| |
| 18 | g.13885516C>A | CA401996186 | MC2R | c.3G>T (p.Met1Ile)
| |
| 18 | g.13885516C= | CA2285919587 | MC2R | c.3G= (p.Met1=)
| |
| 18 | g.13885516C>G | CA401996187 | MC2R | c.3G>C (p.Met1Ile)
| |
| 18 | g.13885516C>T | CA8902558 | MC2R | c.3G>A (p.Met1Ile)
| dbSNP ExAC gnomAD v2 |
| 18 | g.13885517A>C | CA401996188 | MC2R | c.2T>G (p.Met1Arg)
| |
| 18 | g.13885517A>G | CA401996189 | MC2R | c.2T>C (p.Met1Thr)
| |
| 18 | g.13885517A>T | CA401996190 | MC2R | c.2T>A (p.Met1Lys)
| dbSNP gnomAD v4 |
| 18 | g.13885518T>A | CA401996191 | MC2R | c.1A>T (p.Met1Leu)
| |
| 18 | g.13885518T>C | CA401996192 | MC2R | c.1A>G (p.Met1Val)
| |
| 18 | g.13885518T>G | CA401996193 | MC2R | c.1A>C (p.Met1Leu)
| |
| 18 | g.13885521C>G | CA2641148031 | MC2R | c.-3G>C (n.-3G>C)
| gnomAD v4 |
| 18 | g.13885523C>A | CA2285919590 | MC2R | c.-5G>T (n.-5G>T)
| dbSNP |
| 18 | g.13885523C= | CA2285919588 | MC2R | c.-5G= (n.-5G=)
| |
| 18 | g.13885523C>T | CA2285919589 | MC2R | c.-5G>A (n.-5G>A)
| dbSNP gnomAD v4 |
| 18 | g.13885524C= | CA2285919591 | MC2R | c.-6G= (n.-6G=)
| |
| 18 | g.13885524C>G | CA2285919592 | MC2R | c.-6G>C (n.-6G>C)
| dbSNP |
| 18 | g.13885526G>A | CA628624560 | MC2R | c.-8C>T (n.-8C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885526G= | CA2285919593 | MC2R | c.-8C= (n.-8C=)
| |
| 18 | g.13885527C= | CA2285919594 | MC2R | c.-9G= (n.-9G=)
| |
| 18 | g.13885527C>T | CA8902559 | MC2R | c.-9G>A (n.-9G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885528T>C | CA8902560 | MC2R | c.-10A>G (n.-10A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885528T= | CA2285919595 | MC2R | c.-10A= (n.-10A=)
| |
| 18 | g.13885530G>A | CA988025535 | MC2R | c.-12C>T (n.-12C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885530G= | CA2285919596 | MC2R | c.-12C= (n.-12C=)
| |
| 18 | g.13885530G>T | CA988025543 | MC2R | c.-12C>A (n.-12C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885531T>C | CA2641148032 | MC2R | c.-13A>G (n.-13A>G)
| gnomAD v4 |
| 18 | g.13885532G>A | CA2285919597 | MC2R | c.-14C>T (n.-14C>T)
| dbSNP |
| 18 | g.13885532G= | CA2285919598 | MC2R | c.-14C= (n.-14C=)
| |
| 18 | g.13885533G>A | CA988025544 | MC2R | c.-15C>T (n.-15C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13885533G= | CA2285919599 | MC2R | c.-15C= (n.-15C=)
| |
| 18 | g.13885534T>C | CA8902561 | MC2R | c.-16A>G (n.-16A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13885534T= | CA2285919600 | MC2R | c.-16A= (n.-16A=)
| |
| 18 | g.13885535T>C | CA8902562 | MC2R | c.-17A>G (n.-17A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13885535T>G | CA2641148033 | MC2R | c.-17A>C (n.-17A>C)
| gnomAD v4 |
| 18 | g.13885535T= | CA2285919601 | MC2R | c.-17A= (n.-17A=)
| |
