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=)
| |
18 | g.13885537A= | CA2285919602 | MC2R | c.-19T= (n.-19T=)
| |
18 | g.13885537A>G | CA2285919603 | MC2R | c.-19T>C (n.-19T>C)
| dbSNP gnomAD v4 |
18 | g.13885540C= | CA2285919604 | MC2R | c.-22G= (n.-22G=)
| |
18 | g.13885540C>G | CA628624561 | MC2R | c.-22G>C (n.-22G>C)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885540C>T | CA8902563 | MC2R | c.-22G>A (n.-22G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885541G>A | CA8902564 | MC2R | c.-23C>T (n.-23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885541G= | CA2285919605 | MC2R | c.-23C= (n.-23C=)
| |
18 | g.13885542G= | CA2285919606 | MC2R | c.-24C= (n.-24C=)
| |
18 | g.13885542G>T | CA776352491 | MC2R | c.-24C>A (n.-24C>A)
| dbSNP gnomAD v4 |
18 | g.13885543G>A | CA2641148034 | MC2R | c.-25C>T (n.-25C>T)
| gnomAD v4 |
18 | g.13885544G= | CA2285919607 | MC2R | c.-26C= (n.-26C=)
| |
18 | g.13885544G>T | CA628624562 | MC2R | c.-26C>A (n.-26C>A)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885545A= | CA2285919608 | MC2R | c.-27T= (n.-27T=)
| |
18 | g.13885545A>G | CA296828942 | MC2R | c.-27T>C (n.-27T>C)
| dbSNP |
18 | g.13885545A>T | CA2576463995 | MC2R | c.-27T>A (n.-27T>A)
| |
18 | g.13885547G>A | CA2285919610 | MC2R | c.-29C>T (n.-29C>T)
| dbSNP gnomAD v4 |
18 | g.13885547G= | CA2285919609 | MC2R | c.-29C= (n.-29C=)
| |
18 | g.13885551C= | CA2285919611 | MC2R | c.-33G= (n.-33G=)
| |
18 | g.13885551C>T | CA8902565 | MC2R | c.-33G>A (n.-33G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885552T>C | CA8902566 | MC2R | c.-34A>G (n.-34A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885552T= | CA2285919612 | MC2R | c.-34A= (n.-34A=)
| |
18 | g.13885553T>C | CA628624563 | MC2R | c.-35A>G (n.-35A>G)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885553T>G | CA8902567 | MC2R | c.-35A>C (n.-35A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885553T= | CA2285919613 | MC2R | c.-35A= (n.-35A=)
| |
18 | g.13885554G>A | CA628624564 | MC2R | c.-36C>T (n.-36C>T)
| gnomAD v2 |
18 | g.13885554_13885559delinsGGACTT | CA2285919614 | MC2R | c.-41_-36delinsAAGTCC (n.-41_-36delinsAAGTCC)
| |
18 | g.13885560_13885564del | CA628624565 | MC2R | c.-41_-37del (n.-41_-37del)
| dbSNP gnomAD v2 gnomAD v4 |
18 | g.13885556A= | CA2285919616 | MC2R | c.-38T= (n.-38T=)
| |
18 | g.13885556A>C | CA2285919615 | MC2R | c.-38T>G (n.-38T>G)
| dbSNP |
18 | g.13885556_13885557insG | CA657538010 | MC2R | c.-39_-38insC (n.-39_-38insC)
| COSMIC |
18 | g.13885557C= | CA2285919617 | MC2R | c.-39G= (n.-39G=)
| |
18 | g.13885557C>T | CA8902568 | MC2R | c.-39G>A (n.-39G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885558T>C | CA2641148035 | MC2R | c.-40A>G (n.-40A>G)
| gnomAD v4 |
18 | g.13885560G>A | CA8902569 | MC2R | c.-42C>T (n.-42C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885560G= | CA2285919618 | MC2R | c.-42C= (n.-42C=)
| |
18 | g.13885560G>T | CA2641148036 | MC2R | c.-42C>A (n.-42C>A)
| gnomAD v4 |
18 | g.13885562C>A | CA2581337520 | MC2R | c.-44G>T (n.-44G>T)
| gnomAD v4 |
18 | g.13885562C= | CA2285919619 | MC2R | c.-44G= (n.-44G=)
| |
18 | g.13885562C>G | CA8902570 | MC2R | c.-44G>C (n.-44G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885562C>T | CA2581337519 | MC2R | c.-44G>A (n.-44G>A)
| |
18 | g.13885563T>C | CA8902571 | MC2R | c.-45A>G (n.-45A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885563T= | CA2285919620 | MC2R | c.-45A= (n.-45A=)
| |
18 | g.13885565C= | CA2285919621 | MC2R | c.-47G= (n.-47G=)
| |
18 | g.13885565C>T | CA628624566 | MC2R | c.-47G>A (n.-47G>A)
| dbSNP gnomAD v2 |
18 | g.13885566A= | CA2285919622 | MC2R | c.-48T= (n.-48T=)
| |
18 | g.13885566A>C | CA2641148037 | MC2R | c.-48T>G (n.-48T>G)
| gnomAD v4 |
18 | g.13885566A>G | CA8902572 | MC2R | c.-48T>C (n.-48T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885567C>A | CA8902574 | MC2R | c.-49G>T (n.-49G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.13885567C= | CA2285919623 | MC2R | c.-49G= (n.-49G=)
| |
18 | g.13885567C>G | CA2641148038 | MC2R | c.-49G>C (n.-49G>C)
| gnomAD v4 |
18 | g.13885567C>T | CA8902573 | MC2R | c.-49G>A (n.-49G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885568G>A | CA628624567 | MC2R | c.-50C>T (n.-50C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.13885568G>C | CA657538011 | MC2R | c.-50C>G (n.-50C>G)
| COSMIC |
18 | g.13885568G= | CA2285919624 | MC2R | c.-50C= (n.-50C=)
| |
18 | g.13885568G>T | CA2641148039 | MC2R | c.-50C>A (n.-50C>A)
| gnomAD v4 |
18 | g.13885572A= | CA2285919625 | MC2R | c.-54T= (n.-54T=)
| |
18 | g.13885572A>C | CA2590331579 | MC2R | c.-54T>G (n.-54T>G)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885572A>G | CA988025561 | MC2R | c.-54T>C (n.-54T>C)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885573A>G | CA2576463996 | MC2R | c.-55T>C (n.-55T>C)
| |
18 | g.13885574C>T | CA2641148040 | MC2R | c.-56G>A (n.-56G>A)
| gnomAD v4 |
18 | g.13885577G>A | CA2285919627 | MC2R | c.-59C>T (n.-59C>T)
| dbSNP gnomAD v4 |
18 | g.13885577G>C | CA2641148041 | MC2R | c.-59C>G (n.-59C>G)
| gnomAD v4 |
18 | g.13885577G= | CA2285919626 | MC2R | c.-59C= (n.-59C=)
| |
18 | g.13885577G>T | CA2576463997 | MC2R | c.-59C>A (n.-59C>A)
| |
18 | g.13885578A= | CA2285919628 | MC2R | c.-60T= (n.-60T=)
| |
18 | g.13885578A>G | CA2285919629 | MC2R | c.-60T>C (n.-60T>C)
| dbSNP gnomAD v4 |
18 | g.13885579T>C | CA776352530 | MC2R | c.-61A>G (n.-61A>G)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885579T= | CA2285919630 | MC2R | c.-61A= (n.-61A=)
| |
18 | g.13885580T>C | CA2641148042 | MC2R | c.-62A>G (n.-62A>G)
| gnomAD v4 |
18 | g.13885580T>G | CA2641148043 | MC2R | c.-62A>C (n.-62A>C)
| gnomAD v4 |
18 | g.13885581G>A | CA2641148044 | MC2R | c.-63C>T (n.-63C>T)
| gnomAD v4 |
18 | g.13885581G>T | CA2641148045 | MC2R | c.-63C>A (n.-63C>A)
| gnomAD v4 |
18 | g.13885582A>C | CA2641148046 | MC2R | c.-64T>G (n.-64T>G)
| gnomAD v4 |
18 | g.13885582A>G | CA2641148047 | MC2R | c.-64T>C (n.-64T>C)
| gnomAD v4 |
18 | g.13885584dup | CA2565457321 | MC2R | c.-65dup (n.-65dup)
| gnomAD v4 |
18 | g.13885584del | CA2641148048 | MC2R | c.-65del (n.-65del)
| gnomAD v4 |
18 | g.13885585C>T | CA657538012 | MC2R | c.-67G>A (n.-67G>A)
| COSMIC |
18 | g.13885588C= | CA2285919631 | MC2R | c.-70G= (n.-70G=)
| |
18 | g.13885588C>G | CA988025564 | MC2R | c.-70G>C (n.-70G>C)
| dbSNP |
18 | g.13885588C>T | CA988025565 | MC2R | c.-70G>A (n.-70G>A)
| dbSNP gnomAD v3 gnomAD v4 |
18 | g.13885589A= | CA2285919632 | MC2R | c.-71T= (n.-71T=)
| |
18 | g.13885589A>T | CA776352531 | MC2R | c.-71T>A (n.-71T>A)
| dbSNP |
18 | g.13885591G>T | CA2576463998 | MC2R | c.-73C>A (n.-73C>A)
| gnomAD v4 |