16 | g.89919419_89919421del | CA8255504 | MC1R | c.161_163del (p.Val54del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919419T>A | CA8255507 | MC1R | c.161T>A (p.Val54Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919419T>C | CA397459637 | MC1R | c.161T>C (p.Val54Ala)
| |
16 | g.89919419T>G | CA397459638 | MC1R | c.161T>G (p.Val54Gly)
| dbSNP |
16 | g.89919419T= | CA2242009362 | MC1R | c.161T= (p.Val54=)
| |
16 | g.89919420G>A | CA497380895 | MC1R | c.162G>A (p.Val54=)
| |
16 | g.89919420G>C | CA497380897 | MC1R | c.162G>C (p.Val54=)
| |
16 | g.89919420G>T | CA497380900 | MC1R | c.162G>T (p.Val54=)
| |
16 | g.89919421G>A | CA397459640 | MC1R | c.163G>A (p.Glu55Lys)
| |
16 | g.89919421G>C | CA397459642 | MC1R | c.163G>C (p.Glu55Gln)
| |
16 | g.89919421G>T | CA397459644 | MC1R | c.163G>T (p.Glu55Ter)
| |
16 | g.89919422A= | CA2242009363 | MC1R | c.164A= (p.Glu55=)
| |
16 | g.89919422A>C | CA8255508 | MC1R | c.164A>C (p.Glu55Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919422A>G | CA397459647 | MC1R | c.164A>G (p.Glu55Gly)
| gnomAD v3 gnomAD v4 |
16 | g.89919422A>T | CA397459649 | MC1R | c.164A>T (p.Glu55Val)
| |
16 | g.89919423G>A | CA497380907 | MC1R | c.165G>A (p.Glu55=)
| |
16 | g.89919423G>C | CA397459653 | MC1R | c.165G>C (p.Glu55Asp)
| |
16 | g.89919423G>T | CA397459655 | MC1R | c.165G>T (p.Glu55Asp)
| |
16 | g.89919424A= | CA2242009364 | MC1R | c.166A= (p.Asn56=)
| |
16 | g.89919424A>C | CA397459656 | MC1R | c.166A>C (p.Asn56His)
| |
16 | g.89919424A>G | CA397459658 | MC1R | c.166A>G (p.Asn56Asp)
| |
16 | g.89919424A>T | CA8255509 | MC1R | c.166A>T (p.Asn56Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919425A>C | CA397459667 | MC1R | c.167A>C (p.Asn56Thr)
| |
16 | g.89919425A>G | CA397459662 | MC1R | c.167A>G (p.Asn56Ser)
| |
16 | g.89919425A>T | CA397459665 | MC1R | c.167A>T (p.Asn56Ile)
| |
16 | g.89919426C>A | CA397459669 | MC1R | c.168C>A (p.Asn56Lys)
| |
16 | g.89919426C= | CA2242009365 | MC1R | c.168C= (p.Asn56=)
| |
16 | g.89919426C>G | CA397459670 | MC1R | c.168C>G (p.Asn56Lys)
| |
16 | g.89919426C>T | CA8255510 | MC1R | c.168C>T (p.Asn56=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919427G>A | CA8255512 | MC1R | c.169G>A (p.Ala57Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919427G>C | CA397459675 | MC1R | c.169G>C (p.Ala57Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919427G= | CA2242009366 | MC1R | c.169G= (p.Ala57=)
| |
16 | g.89919427G>T | CA397459678 | MC1R | c.169G>T (p.Ala57Ser)
| |
16 | g.89919427dup | CA8255511 | MC1R | c.169dup (p.Ala57GlyfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919428C>A | CA397459681 | MC1R | c.170C>A (p.Ala57Glu)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919428C= | CA2242009367 | MC1R | c.170C= (p.Ala57=)
| |
16 | g.89919428C>G | CA397459684 | MC1R | c.170C>G (p.Ala57Gly)
| |
16 | g.89919428C>T | CA8255513 | MC1R | c.170C>T (p.Ala57Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919429G>A | CA8255514 | MC1R | c.171G>A (p.Ala57=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919429G>C | CA497380910 | MC1R | c.171G>C (p.Ala57=)
| |
16 | g.89919429G= | CA2242009368 | MC1R | c.171G= (p.Ala57=)
| |
16 | g.89919429G>T | CA497380911 | MC1R | c.171G>T (p.Ala57=)
| dbSNP gnomAD v4 |
16 | g.89919430C>A | CA397459691 | MC1R | c.172C>A (p.Leu58Met)
| |
16 | g.89919430C>G | CA397459694 | MC1R | c.172C>G (p.Leu58Val)
| |
16 | g.89919430C>T | CA497380912 | MC1R | c.172C>T (p.Leu58=)
| |
16 | g.89919431T>A | CA397459702 | MC1R | c.173T>A (p.Leu58Gln)
| |
16 | g.89919431T>C | CA397459698 | MC1R | c.173T>C (p.Leu58Pro)
| gnomAD v4 |
16 | g.89919431T>G | CA397459700 | MC1R | c.173T>G (p.Leu58Arg)
| |
16 | g.89919432G>A | CA497380913 | MC1R | c.174G>A (p.Leu58=)
| |
16 | g.89919432G>C | CA497380914 | MC1R | c.174G>C (p.Leu58=)
| |
16 | g.89919432G>T | CA497380915 | MC1R | c.174G>T (p.Leu58=)
| |
16 | g.89919433G>A | CA397459704 | MC1R | c.175G>A (p.Val59Met)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919433G>C | CA397459720 | MC1R | c.175G>C (p.Val59Leu)
| |
16 | g.89919433G= | CA2242009369 | MC1R | c.175G= (p.Val59=)
| |
16 | g.89919433G>T | CA397459722 | MC1R | c.175G>T (p.Val59Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919434T>A | CA397459726 | MC1R | c.176T>A (p.Val59Glu)
| |
16 | g.89919434T>C | CA397459729 | MC1R | c.176T>C (p.Val59Ala)
| gnomAD v4 |
16 | g.89919434T>G | CA397459731 | MC1R | c.176T>G (p.Val59Gly)
| |
16 | g.89919435G>A | CA497380916 | MC1R | c.177G>A (p.Val59=)
| |
16 | g.89919435G>C | CA497380918 | MC1R | c.177G>C (p.Val59=)
| gnomAD v4 |
16 | g.89919435G>T | CA497380917 | MC1R | c.177G>T (p.Val59=)
| |
16 | g.89919436G>A | CA397459733 | MC1R | c.178G>A (p.Val60Met)
| |
16 | g.89919436G>C | CA397459735 | MC1R | c.178G>C (p.Val60Leu)
| |
16 | g.89919436G= | CA2242009370 | MC1R | c.178G= (p.Val60=)
| |
16 | g.89919436G>T | CA123869 | MC1R | c.178G>T (p.Val60Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919437T>A | CA397459737 | MC1R | c.179T>A (p.Val60Glu)
| dbSNP gnomAD v2 |
16 | g.89919437T>C | CA397459745 | MC1R | c.179T>C (p.Val60Ala)
| |
16 | g.89919437T>G | CA397459747 | MC1R | c.179T>G (p.Val60Gly)
| |
16 | g.89919437T= | CA2242009371 | MC1R | c.179T= (p.Val60=)
| |
16 | g.89919438G>A | CA497380919 | MC1R | c.180G>A (p.Val60=)
| |
16 | g.89919438G>C | CA497380920 | MC1R | c.180G>C (p.Val60=)
| |
16 | g.89919438G>T | CA497380921 | MC1R | c.180G>T (p.Val60=)
| |
16 | g.89919439del | CA2635065248 | MC1R | c.181del (p.Ala61ProfsTer27)
| gnomAD v4 |
16 | g.89919439G>A | CA397459756 | MC1R | c.181G>A (p.Ala61Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919439G>C | CA397459755 | MC1R | c.181G>C (p.Ala61Pro)
| |
16 | g.89919439G= | CA2242009372 | MC1R | c.181G= (p.Ala61=)
| |
16 | g.89919439G>T | CA397459749 | MC1R | c.181G>T (p.Ala61Ser)
| gnomAD v4 |
16 | g.89919443_89919451del | CA2635065251 | MC1R | c.185_193del (p.Thr62_Ala64del)
| ClinVar gnomAD v4 |
16 | g.89919440C>A | CA397459758 | MC1R | c.182C>A (p.Ala61Asp)
| |
16 | g.89919440C>G | CA397459760 | MC1R | c.182C>G (p.Ala61Gly)
| |
16 | g.89919440C>T | CA397459763 | MC1R | c.182C>T (p.Ala61Val)
| gnomAD v4 |
16 | g.89919441C>A | CA497380922 | MC1R | c.183C>A (p.Ala61=)
| |
16 | g.89919441C>G | CA497380923 | MC1R | c.183C>G (p.Ala61=)
| |
16 | g.89919441C>T | CA497380924 | MC1R | c.183C>T (p.Ala61=)
| gnomAD v4 |
16 | g.89919442A= | CA2242009373 | MC1R | c.184A= (p.Thr62=)
| |
16 | g.89919442A>C | CA397459766 | MC1R | c.184A>C (p.Thr62Pro)
| dbSNP |
16 | g.89919442A>G | CA397459768 | MC1R | c.184A>G (p.Thr62Ala)
| |
16 | g.89919442A>T | CA397459771 | MC1R | c.184A>T (p.Thr62Ser)
| |
16 | g.89919443C>A | CA397459774 | MC1R | c.185C>A (p.Thr62Asn)
| |
16 | g.89919443C= | CA2242009374 | MC1R | c.185C= (p.Thr62=)
| |
16 | g.89919443C>G | CA397459776 | MC1R | c.185C>G (p.Thr62Ser)
| |
16 | g.89919443C>T | CA286607413 | MC1R | c.185C>T (p.Thr62Ile)
| dbSNP gnomAD v4 |
16 | g.89919444C>A | CA497380925 | MC1R | c.186C>A (p.Thr62=)
| |
16 | g.89919444C= | CA2242009375 | MC1R | c.186C= (p.Thr62=)
| |
16 | g.89919444C>G | CA497380926 | MC1R | c.186C>G (p.Thr62=)
| |
16 | g.89919444C>T | CA8255515 | MC1R | c.186C>T (p.Thr62=)
| dbSNP ExAC gnomAD v2 |
16 | g.89919445A= | CA2242009376 | MC1R | c.187A= (p.Ile63=)
| |
16 | g.89919445A>C | CA397459782 | MC1R | c.187A>C (p.Ile63Leu)
| |
16 | g.89919445A>G | CA8255516 | MC1R | c.187A>G (p.Ile63Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919445A>T | CA397459784 | MC1R | c.187A>T (p.Ile63Phe)
| |
16 | g.89919446T>A | CA397459787 | MC1R | c.188T>A (p.Ile63Asn)
| |
16 | g.89919446T>C | CA397459788 | MC1R | c.188T>C (p.Ile63Thr)
| ClinVar dbSNP gnomAD v4 |
16 | g.89919446T>G | CA397459785 | MC1R | c.188T>G (p.Ile63Ser)
| |
16 | g.89919446T= | CA2242009378 | MC1R | c.188T= (p.Ile63=)
| |
16 | g.89919448_89919449insTGGAGAACGCGCTGGTGGTGGCCACCGTCG | CA2242009377 | MC1R | c.190_191insTGGAGAACGCGCTGGTGGTGGCCACCGTCG (p.Ile63_Ala64insValGluAsnAlaLeuValValAlaThrVal)
| ClinVar dbSNP gnomAD v4 |
16 | g.89919447C>A | CA497380927 | MC1R | c.189C>A (p.Ile63=)
| |
16 | g.89919447C= | CA2242009379 | MC1R | c.189C= (p.Ile63=)
| |
16 | g.89919447C>G | CA397459792 | MC1R | c.189C>G (p.Ile63Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919447C>T | CA8255517 | MC1R | c.189C>T (p.Ile63=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919448G>A | CA8255518 | MC1R | c.190G>A (p.Ala64Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919448G>C | CA286607418 | MC1R | c.190G>C (p.Ala64Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919448G= | CA2242009380 | MC1R | c.190G= (p.Ala64=)
| |
16 | g.89919448G>T | CA397459799 | MC1R | c.190G>T (p.Ala64Ser)
| COSMIC |
16 | g.89919449C>A | CA397459800 | MC1R | c.191C>A (p.Ala64Asp)
| |
16 | g.89919449C>G | CA397459801 | MC1R | c.191C>G (p.Ala64Gly)
| |
16 | g.89919449C>T | CA397459802 | MC1R | c.191C>T (p.Ala64Val)
| |
16 | g.89919450C>A | CA497380928 | MC1R | c.192C>A (p.Ala64=)
| |
16 | g.89919450C>G | CA497380929 | MC1R | c.192C>G (p.Ala64=)
| |
16 | g.89919450C>T | CA497380930 | MC1R | c.192C>T (p.Ala64=)
| gnomAD v4 |
16 | g.89919451A= | CA2242009381 | MC1R | c.193A= (p.Lys65=)
| |
16 | g.89919451A>C | CA397459805 | MC1R | c.193A>C (p.Lys65Gln)
| |
16 | g.89919451A>G | CA397459808 | MC1R | c.193A>G (p.Lys65Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919451A>T | CA397459811 | MC1R | c.193A>T (p.Lys65Ter)
| |
16 | g.89919452A>C | CA397459812 | MC1R | c.194A>C (p.Lys65Thr)
| |
16 | g.89919452A>G | CA397459813 | MC1R | c.194A>G (p.Lys65Arg)
| |
16 | g.89919452A>T | CA397459814 | MC1R | c.194A>T (p.Lys65Met)
| |
16 | g.89919452_89919458delinsAGAACCG | CA2242009382 | MC1R | c.194_200delinsAGAACCG (p.Lys65=)
| |
16 | g.89919453G>A | CA497380931 | MC1R | c.195G>A (p.Lys65=)
| dbSNP |
16 | g.89919453G>C | CA286607420 | MC1R | c.195G>C (p.Lys65Asn)
| dbSNP |
16 | g.89919453G= | CA2242009383 | MC1R | c.195G= (p.Lys65=)
| |
16 | g.89919453G>T | CA397459817 | MC1R | c.195G>T (p.Lys65Asn)
| COSMIC |
16 | g.89919458_89919463del | CA624455318 | MC1R | c.200_205del (p.Arg67_Asn68del)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919454A>C | CA397459824 | MC1R | c.196A>C (p.Asn66His)
| |
16 | g.89919454A>G | CA397459830 | MC1R | c.196A>G (p.Asn66Asp)
| |
16 | g.89919454A>T | CA397459831 | MC1R | c.196A>T (p.Asn66Tyr)
| |
16 | g.89919455A= | CA2242009384 | MC1R | c.197A= (p.Asn66=)
| |
16 | g.89919455A>C | CA397459832 | MC1R | c.197A>C (p.Asn66Thr)
| |
16 | g.89919455A>G | CA397459833 | MC1R | c.197A>G (p.Asn66Ser)
| |
16 | g.89919455A>T | CA397459834 | MC1R | c.197A>T (p.Asn66Ile)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919456C>A | CA397459835 | MC1R | c.198C>A (p.Asn66Lys)
| |
16 | g.89919456C= | CA2242009385 | MC1R | c.198C= (p.Asn66=)
| |
16 | g.89919456C>G | CA397459836 | MC1R | c.198C>G (p.Asn66Lys)
| |
16 | g.89919456C>T | CA286607422 | MC1R | c.198C>T (p.Asn66=)
| dbSNP |
16 | g.89919457C>A | CA497380932 | MC1R | c.199C>A (p.Arg67=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919457C= | CA2242009386 | MC1R | c.199C= (p.Arg67=)
| |
16 | g.89919457C>G | CA397459838 | MC1R | c.199C>G (p.Arg67Gly)
| |
16 | g.89919457C>T | CA8255519 | MC1R | c.199C>T (p.Arg67Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919458G>A | CA8255520 | MC1R | c.200G>A (p.Arg67Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919458G>C | CA397459843 | MC1R | c.200G>C (p.Arg67Pro)
| |
16 | g.89919458G= | CA2242009387 | MC1R | c.200G= (p.Arg67=)
| |
16 | g.89919458G>T | CA397459846 | MC1R | c.200G>T (p.Arg67Leu)
| |
16 | g.89919459del | CA2576103990 | MC1R | c.201del (p.Asn68ThrfsTer20)
| gnomAD v4 |
16 | g.89919459G>A | CA497380933 | MC1R | c.201G>A (p.Arg67=)
| dbSNP |
16 | g.89919459G>C | CA497380934 | MC1R | c.201G>C (p.Arg67=)
| |
16 | g.89919459G>T | CA497380935 | MC1R | c.201G>T (p.Arg67=)
| |
16 | g.89919460A>C | CA397459849 | MC1R | c.202A>C (p.Asn68His)
| |
16 | g.89919460A>G | CA397459853 | MC1R | c.202A>G (p.Asn68Asp)
| gnomAD v4 |
16 | g.89919460A>T | CA397459851 | MC1R | c.202A>T (p.Asn68Tyr)
| |
16 | g.89919461A>C | CA397459856 | MC1R | c.203A>C (p.Asn68Thr)
| |
16 | g.89919461A>G | CA397459864 | MC1R | c.203A>G (p.Asn68Ser)
| |
16 | g.89919461A>T | CA397459866 | MC1R | c.203A>T (p.Asn68Ile)
| |
16 | g.89919462C>A | CA397459867 | MC1R | c.204C>A (p.Asn68Lys)
| |
16 | g.89919462C>G | CA397459868 | MC1R | c.204C>G (p.Asn68Lys)
| |
16 | g.89919462C>T | CA497380936 | MC1R | c.204C>T (p.Asn68=)
| |
16 | g.89919463C>A | CA397459869 | MC1R | c.205C>A (p.Leu69Met)
| |
16 | g.89919463C>G | CA397459870 | MC1R | c.205C>G (p.Leu69Val)
| ClinVar dbSNP |
16 | g.89919463C>T | CA497380937 | MC1R | c.205C>T (p.Leu69=)
| |
16 | g.89919464T>A | CA397459872 | MC1R | c.206T>A (p.Leu69Gln)
| |
16 | g.89919464T>C | CA397459873 | MC1R | c.206T>C (p.Leu69Pro)
| |
16 | g.89919464T>G | CA397459890 | MC1R | c.206T>G (p.Leu69Arg)
| |
16 | g.89919465G>A | CA8255522 | MC1R | c.207G>A (p.Leu69=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919465G>C | CA497380938 | MC1R | c.207G>C (p.Leu69=)
| ClinVar |
16 | g.89919465G= | CA2242009388 | MC1R | c.207G= (p.Leu69=)
| |
16 | g.89919465G>T | CA8255521 | MC1R | c.207G>T (p.Leu69=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919465_89919466delinsGC | CA2242009389 | MC1R | c.207_208delinsGC (p.Leu69=)
| |
16 | g.89919466del | CA919769654 | MC1R | c.208del (p.His70ThrfsTer18)
| dbSNP gnomAD v4 |
16 | g.89919466C>A | CA397459900 | MC1R | c.208C>A (p.His70Asn)
| |
16 | g.89919466C= | CA2242009390 | MC1R | c.208C= (p.His70=)
| |
16 | g.89919466C>G | CA397459899 | MC1R | c.208C>G (p.His70Asp)
| |
16 | g.89919466C>T | CA8255523 | MC1R | c.208C>T (p.His70Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919467A= | CA2242009391 | MC1R | c.209A= (p.His70=)
| |
16 | g.89919467A>C | CA397459902 | MC1R | c.209A>C (p.His70Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919467A>G | CA397459903 | MC1R | c.209A>G (p.His70Arg)
| |
16 | g.89919467A>T | CA397459906 | MC1R | c.209A>T (p.His70Leu)
| |
16 | g.89919468C>A | CA397459909 | MC1R | c.210C>A (p.His70Gln)
| |
16 | g.89919468C>G | CA397459911 | MC1R | c.210C>G (p.His70Gln)
| |
16 | g.89919468C>T | CA497380939 | MC1R | c.210C>T (p.His70=)
| ClinVar gnomAD v4 |
16 | g.89919469T>A | CA397459915 | MC1R | c.211T>A (p.Ser71Thr)
| |
16 | g.89919469T>C | CA397459916 | MC1R | c.211T>C (p.Ser71Pro)
| |
16 | g.89919469T>G | CA397459918 | MC1R | c.211T>G (p.Ser71Ala)
| |
16 | g.89919470C>A | CA397459920 | MC1R | c.212C>A (p.Ser71Ter)
| |
16 | g.89919470C>G | CA397459921 | MC1R | c.212C>G (p.Ser71Ter)
| |
16 | g.89919470C>T | CA397459923 | MC1R | c.212C>T (p.Ser71Leu)
| |
16 | g.89919471A= | CA2242009392 | MC1R | c.213A= (p.Ser71=)
| |
16 | g.89919471A>C | CA497380940 | MC1R | c.213A>C (p.Ser71=)
| |
16 | g.89919471A>G | CA8255524 | MC1R | c.213A>G (p.Ser71=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919471A>T | CA497380941 | MC1R | c.213A>T (p.Ser71=)
| |
16 | g.89919472C>A | CA397459932 | MC1R | c.214C>A (p.Pro72Thr)
| |
16 | g.89919472C>G | CA397459931 | MC1R | c.214C>G (p.Pro72Ala)
| |
16 | g.89919472C>T | CA397459935 | MC1R | c.214C>T (p.Pro72Ser)
| gnomAD v4 |
16 | g.89919473C>A | CA397459943 | MC1R | c.215C>A (p.Pro72His)
| |
16 | g.89919473C= | CA2242009393 | MC1R | c.215C= (p.Pro72=)
| |
16 | g.89919473C>G | CA286607429 | MC1R | c.215C>G (p.Pro72Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919473C>T | CA286607430 | MC1R | c.215C>T (p.Pro72Leu)
| dbSNP |
16 | g.89919474C>A | CA497380942 | MC1R | c.216C>A (p.Pro72=)
| |
16 | g.89919474C= | CA2242009394 | MC1R | c.216C= (p.Pro72=)
| |
16 | g.89919474C>G | CA497380943 | MC1R | c.216C>G (p.Pro72=)
| dbSNP gnomAD v2 |
16 | g.89919474C>T | CA286607433 | MC1R | c.216C>T (p.Pro72=)
| dbSNP gnomAD v4 |
16 | g.89919475A= | CA2242009395 | MC1R | c.217A= (p.Met73=)
| |
16 | g.89919475A>C | CA397459952 | MC1R | c.217A>C (p.Met73Leu)
| |
16 | g.89919475A>G | CA8255525 | MC1R | c.217A>G (p.Met73Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919475A>T | CA286607436 | MC1R | c.217A>T (p.Met73Leu)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919476T>A | CA397459956 | MC1R | c.218T>A (p.Met73Lys)
| |
16 | g.89919476T>C | CA397459958 | MC1R | c.218T>C (p.Met73Thr)
| |
16 | g.89919476T>G | CA397459961 | MC1R | c.218T>G (p.Met73Arg)
| |
16 | g.89919477G>A | CA8255526 | MC1R | c.219G>A (p.Met73Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919477G>C | CA397459963 | MC1R | c.219G>C (p.Met73Ile)
| gnomAD v4 |
16 | g.89919477G= | CA2242009396 | MC1R | c.219G= (p.Met73=)
| |
16 | g.89919477G>T | CA397459964 | MC1R | c.219G>T (p.Met73Ile)
| gnomAD v4 |
16 | g.89919478T>A | CA397459968 | MC1R | c.220T>A (p.Tyr74Asn)
| |
16 | g.89919478T>C | CA397459966 | MC1R | c.220T>C (p.Tyr74His)
| gnomAD v4 |
16 | g.89919478T>G | CA397459965 | MC1R | c.220T>G (p.Tyr74Asp)
| |
16 | g.89919479A= | CA2242009397 | MC1R | c.221A= (p.Tyr74=)
| |
16 | g.89919479A>C | CA397459971 | MC1R | c.221A>C (p.Tyr74Ser)
| |
16 | g.89919479A>G | CA397459975 | MC1R | c.221A>G (p.Tyr74Cys)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919479A>T | CA397459977 | MC1R | c.221A>T (p.Tyr74Phe)
| |
16 | g.89919480C>A | CA8255527 | MC1R | c.222C>A (p.Tyr74Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919480C= | CA2242009398 | MC1R | c.222C= (p.Tyr74=)
| |
16 | g.89919480C>G | CA397459981 | MC1R | c.222C>G (p.Tyr74Ter)
| dbSNP |
16 | g.89919480C>T | CA497380944 | MC1R | c.222C>T (p.Tyr74=)
| |
16 | g.89919481T>A | CA397459985 | MC1R | c.223T>A (p.Cys75Ser)
| |
16 | g.89919481T>C | CA286607440 | MC1R | c.223T>C (p.Cys75Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919481T>G | CA397459988 | MC1R | c.223T>G (p.Cys75Gly)
| |
16 | g.89919481T= | CA2242009399 | MC1R | c.223T= (p.Cys75=)
| |
16 | g.89919482G>A | CA397459990 | MC1R | c.224G>A (p.Cys75Tyr)
| |
16 | g.89919482G>C | CA397459992 | MC1R | c.224G>C (p.Cys75Ser)
| |
16 | g.89919482G>T | CA397459994 | MC1R | c.224G>T (p.Cys75Phe)
| gnomAD v4 |
16 | g.89919483C>A | CA397459996 | MC1R | c.225C>A (p.Cys75Ter)
| |
16 | g.89919483C= | CA2242009400 | MC1R | c.225C= (p.Cys75=)
| |
16 | g.89919483C>G | CA397459997 | MC1R | c.225C>G (p.Cys75Trp)
| |
16 | g.89919483C>T | CA497380945 | MC1R | c.225C>T (p.Cys75=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919484T>A | CA397460003 | MC1R | c.226T>A (p.Phe76Ile)
| |
16 | g.89919484T>C | CA397460004 | MC1R | c.226T>C (p.Phe76Leu)
| dbSNP |
16 | g.89919484T>G | CA397460000 | MC1R | c.226T>G (p.Phe76Val)
| |
16 | g.89919484T= | CA2242009401 | MC1R | c.226T= (p.Phe76=)
| |
16 | g.89919485T>A | CA8255528 | MC1R | c.227T>A (p.Phe76Tyr)
| dbSNP ExAC gnomAD v2 |
16 | g.89919485T>C | CA397460009 | MC1R | c.227T>C (p.Phe76Ser)
| |
16 | g.89919485T>G | CA397460011 | MC1R | c.227T>G (p.Phe76Cys)
| |
16 | g.89919485T= | CA2242009402 | MC1R | c.227T= (p.Phe76=)
| |
16 | g.89919486C>A | CA397460014 | MC1R | c.228C>A (p.Phe76Leu)
| |
16 | g.89919486C= | CA2242009403 | MC1R | c.228C= (p.Phe76=)
| |
16 | g.89919486C>G | CA397460015 | MC1R | c.228C>G (p.Phe76Leu)
| |
16 | g.89919486C>T | CA497380125 | MC1R | c.228C>T (p.Phe76=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919487A= | CA2242009404 | MC1R | c.229A= (p.Ile77=)
| |
16 | g.89919487A>C | CA8255529 | MC1R | c.229A>C (p.Ile77Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919487A>G | CA397460020 | MC1R | c.229A>G (p.Ile77Val)
| gnomAD v4 |
16 | g.89919487A>T | CA397460021 | MC1R | c.229A>T (p.Ile77Phe)
| |
16 | g.89919488T>A | CA397460023 | MC1R | c.230T>A (p.Ile77Asn)
| |
16 | g.89919488T>C | CA8255530 | MC1R | c.230T>C (p.Ile77Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919488T>G | CA397460027 | MC1R | c.230T>G (p.Ile77Ser)
| |
16 | g.89919488T= | CA2242009405 | MC1R | c.230T= (p.Ile77=)
| |
16 | g.89919489C>A | CA497380126 | MC1R | c.231C>A (p.Ile77=)
| gnomAD v4 |
16 | g.89919489C= | CA2242009406 | MC1R | c.231C= (p.Ile77=)
| |
16 | g.89919489C>G | CA286607444 | MC1R | c.231C>G (p.Ile77Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919489C>T | CA497380127 | MC1R | c.231C>T (p.Ile77=)
| gnomAD v4 |
16 | g.89919490T>A | CA397460035 | MC1R | c.232T>A (p.Cys78Ser)
| |
16 | g.89919490T>C | CA397460031 | MC1R | c.232T>C (p.Cys78Arg)
| |
16 | g.89919490T>G | CA397460034 | MC1R | c.232T>G (p.Cys78Gly)
| |
16 | g.89919491G>A | CA397460037 | MC1R | c.233G>A (p.Cys78Tyr)
| |
16 | g.89919491G>C | CA8255531 | MC1R | c.233G>C (p.Cys78Ser)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.89919491G= | CA2242009407 | MC1R | c.233G= (p.Cys78=)
| |
16 | g.89919491G>T | CA397460041 | MC1R | c.233G>T (p.Cys78Phe)
| |
16 | g.89919492C>A | CA397460043 | MC1R | c.234C>A (p.Cys78Ter)
| |
16 | g.89919492C>G | CA397460046 | MC1R | c.234C>G (p.Cys78Trp)
| |
16 | g.89919492C>T | CA497380129 | MC1R | c.234C>T (p.Cys78=)
| |
16 | g.89919493T>A | CA397460047 | MC1R | c.235T>A (p.Cys79Ser)
| |
16 | g.89919493T>C | CA397460048 | MC1R | c.235T>C (p.Cys79Arg)
| |
16 | g.89919493T>G | CA397460049 | MC1R | c.235T>G (p.Cys79Gly)
| |
16 | g.89919494G>A | CA397460050 | MC1R | c.236G>A (p.Cys79Tyr)
| |
16 | g.89919494G>C | CA397460051 | MC1R | c.236G>C (p.Cys79Ser)
| |
16 | g.89919494G>T | CA397460053 | MC1R | c.236G>T (p.Cys79Phe)
| |
16 | g.89919495C>A | CA397460056 | MC1R | c.237C>A (p.Cys79Ter)
| |
16 | g.89919495C= | CA2242009408 | MC1R | c.237C= (p.Cys79=)
| |
16 | g.89919495C>G | CA397460054 | MC1R | c.237C>G (p.Cys79Trp)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919495C>T | CA497380132 | MC1R | c.237C>T (p.Cys79=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.89919496C>A | CA397460058 | MC1R | c.238C>A (p.Leu80Met)
| |
16 | g.89919496C>G | CA397460060 | MC1R | c.238C>G (p.Leu80Val)
| |
16 | g.89919496C>T | CA497380133 | MC1R | c.238C>T (p.Leu80=)
| ClinVar dbSNP gnomAD v4 |
16 | g.89919497T>A | CA397460062 | MC1R | c.239T>A (p.Leu80Gln)
| |
16 | g.89919497T>C | CA397460063 | MC1R | c.239T>C (p.Leu80Pro)
| gnomAD v4 |
16 | g.89919497T>G | CA397460065 | MC1R | c.239T>G (p.Leu80Arg)
| |
16 | g.89919498G>A | CA497380136 | MC1R | c.240G>A (p.Leu80=)
| gnomAD v4 |
16 | g.89919498G>C | CA497380135 | MC1R | c.240G>C (p.Leu80=)
| |
16 | g.89919498G>T | CA497380134 | MC1R | c.240G>T (p.Leu80=)
| gnomAD v4 |
16 | g.89919499G>A | CA397460067 | MC1R | c.241G>A (p.Ala81Thr)
| |
16 | g.89919499G>C | CA8255532 | MC1R | c.241G>C (p.Ala81Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919499G= | CA2242009409 | MC1R | c.241G= (p.Ala81=)
| |
16 | g.89919499G>T | CA397460069 | MC1R | c.241G>T (p.Ala81Ser)
| dbSNP gnomAD v4 |
16 | g.89919500C>A | CA397460070 | MC1R | c.242C>A (p.Ala81Asp)
| gnomAD v4 |
16 | g.89919500C= | CA2242009410 | MC1R | c.242C= (p.Ala81=)
| |
16 | g.89919500C>G | CA397460073 | MC1R | c.242C>G (p.Ala81Gly)
| |
16 | g.89919500C>T | CA397460071 | MC1R | c.242C>T (p.Ala81Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919501C>A | CA8255533 | MC1R | c.243C>A (p.Ala81=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919501C= | CA2242009411 | MC1R | c.243C= (p.Ala81=)
| |
16 | g.89919501C>G | CA8255534 | MC1R | c.243C>G (p.Ala81=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919501C>T | CA497380140 | MC1R | c.243C>T (p.Ala81=)
| dbSNP |
16 | g.89919502T>A | CA397460076 | MC1R | c.244T>A (p.Leu82Met)
| |
16 | g.89919502T>C | CA497380141 | MC1R | c.244T>C (p.Leu82=)
| dbSNP |
16 | g.89919502T>G | CA397460077 | MC1R | c.244T>G (p.Leu82Val)
| |
16 | g.89919503T>A | CA397460079 | MC1R | c.245T>A (p.Leu82Ter)
| |
16 | g.89919503T>C | CA397460081 | MC1R | c.245T>C (p.Leu82Ser)
| |
16 | g.89919503T>G | CA397460080 | MC1R | c.245T>G (p.Leu82Trp)
| |
16 | g.89919504G>A | CA497380143 | MC1R | c.246G>A (p.Leu82=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919504G>C | CA397460083 | MC1R | c.246G>C (p.Leu82Phe)
| |
16 | g.89919504G= | CA2242009412 | MC1R | c.246G= (p.Leu82=)
| |
16 | g.89919504G>T | CA397460085 | MC1R | c.246G>T (p.Leu82Phe)
| |
16 | g.89919505T>A | CA397460086 | MC1R | c.247T>A (p.Ser83Thr)
| |
16 | g.89919505T>C | CA8255535 | MC1R | c.247T>C (p.Ser83Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919505T>G | CA397460088 | MC1R | c.247T>G (p.Ser83Ala)
| |
16 | g.89919505T= | CA2242009413 | MC1R | c.247T= (p.Ser83=)
| |
16 | g.89919506C>A | CA397460090 | MC1R | c.248C>A (p.Ser83Ter)
| |
16 | g.89919506C= | CA2242009414 | MC1R | c.248C= (p.Ser83=)
| |
16 | g.89919506C>G | CA397460092 | MC1R | c.248C>G (p.Ser83Trp)
| dbSNP |
16 | g.89919506C>T | CA8255536 | MC1R | c.248C>T (p.Ser83Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919507G>A | CA8255537 | MC1R | c.249G>A (p.Ser83=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919507G>C | CA497380146 | MC1R | c.249G>C (p.Ser83=)
| |
16 | g.89919507G= | CA2242009415 | MC1R | c.249G= (p.Ser83=)
| |
16 | g.89919507G>T | CA497380147 | MC1R | c.249G>T (p.Ser83=)
| |
16 | g.89919510_89919526del | CA2635065510 | MC1R | c.252_268del (p.Asp84GlufsTer?)
| gnomAD v4 |
16 | g.89919508G>A | CA8255538 | MC1R | c.250G>A (p.Asp84Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919508G>C | CA397460096 | MC1R | c.250G>C (p.Asp84His)
| |
16 | g.89919508G= | CA2242009416 | MC1R | c.250G= (p.Asp84=)
| |
16 | g.89919508G>T | CA397460098 | MC1R | c.250G>T (p.Asp84Tyr)
| |
16 | g.89919509A= | CA2242009417 | MC1R | c.251A= (p.Asp84=)
| |
16 | g.89919509A>C | CA397460099 | MC1R | c.251A>C (p.Asp84Ala)
| dbSNP |
16 | g.89919509A>G | CA397460103 | MC1R | c.251A>G (p.Asp84Gly)
| |
16 | g.89919509A>T | CA397460101 | MC1R | c.251A>T (p.Asp84Val)
| |
16 | g.89919510C>A | CA123865 | MC1R | c.252C>A (p.Asp84Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919510C= | CA2242009418 | MC1R | c.252C= (p.Asp84=)
| |
16 | g.89919510C>G | CA8255539 | MC1R | c.252C>G (p.Asp84Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919510C>T | CA497380149 | MC1R | c.252C>T (p.Asp84=)
| |
16 | g.89919511C>A | CA397460104 | MC1R | c.253C>A (p.Leu85Met)
| |
16 | g.89919511C= | CA2242009419 | MC1R | c.253C= (p.Leu85=)
| |
16 | g.89919511C>G | CA397460105 | MC1R | c.253C>G (p.Leu85Val)
| dbSNP |
16 | g.89919511C>T | CA497380150 | MC1R | c.253C>T (p.Leu85=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919512T>A | CA397460108 | MC1R | c.254T>A (p.Leu85Gln)
| |
16 | g.89919512T>C | CA397460109 | MC1R | c.254T>C (p.Leu85Pro)
| gnomAD v4 |
16 | g.89919512T>G | CA397460111 | MC1R | c.254T>G (p.Leu85Arg)
| |
16 | g.89919513G>A | CA497380151 | MC1R | c.255G>A (p.Leu85=)
| |
16 | g.89919513G>C | CA497380152 | MC1R | c.255G>C (p.Leu85=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919513G= | CA2242009420 | MC1R | c.255G= (p.Leu85=)
| |
16 | g.89919513G>T | CA497380153 | MC1R | c.255G>T (p.Leu85=)
| |
16 | g.89919514C>A | CA397460112 | MC1R | c.256C>A (p.Leu86Met)
| |
16 | g.89919514C>G | CA397460114 | MC1R | c.256C>G (p.Leu86Val)
| |
16 | g.89919514C>T | CA497380154 | MC1R | c.256C>T (p.Leu86=)
| |
16 | g.89919515T>A | CA397460116 | MC1R | c.257T>A (p.Leu86Gln)
| |
16 | g.89919515T>C | CA397460118 | MC1R | c.257T>C (p.Leu86Pro)
| |
16 | g.89919515T>G | CA397460119 | MC1R | c.257T>G (p.Leu86Arg)
| |
16 | g.89919517_89919519dup | CA2635065542 | MC1R | c.259_261dup (p.Val87_Ser88insVal)
| gnomAD v4 |
16 | g.89919516G>A | CA497380156 | MC1R | c.258G>A (p.Leu86=)
| gnomAD v4 |
16 | g.89919516G>C | CA497380157 | MC1R | c.258G>C (p.Leu86=)
| |
16 | g.89919516G>T | CA497380158 | MC1R | c.258G>T (p.Leu86=)
| gnomAD v4 |
16 | g.89919517G>A | CA397460124 | MC1R | c.259G>A (p.Val87Met)
| gnomAD v4 |
16 | g.89919517G>C | CA397460121 | MC1R | c.259G>C (p.Val87Leu)
| gnomAD v4 |
16 | g.89919517G>T | CA397460123 | MC1R | c.259G>T (p.Val87Leu)
| gnomAD v4 |
16 | g.89919518T>A | CA397460126 | MC1R | c.260T>A (p.Val87Glu)
| |
16 | g.89919518T>C | CA397460127 | MC1R | c.260T>C (p.Val87Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919518T>G | CA397460129 | MC1R | c.260T>G (p.Val87Gly)
| |
16 | g.89919518T= | CA2242009421 | MC1R | c.260T= (p.Val87=)
| |
16 | g.89919519G>A | CA497380159 | MC1R | c.261G>A (p.Val87=)
| dbSNP |
16 | g.89919519G>C | CA497380160 | MC1R | c.261G>C (p.Val87=)
| |
16 | g.89919519G>T | CA497380161 | MC1R | c.261G>T (p.Val87=)
| |