Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72218591T>ACA381743368FOLR2c.7T>A (p.Trp3Arg)
c.46T>A (p.Trp16Arg)
c.58T>A (p.Trp20Arg)
c.27+1666T>A (n.27+1666T>A)
c.52T>A (p.Trp18Arg)
c.40T>A (p.Trp14Arg)
c.145T>A (p.Trp49Arg)
c.34T>A (p.Trp12Arg)
11g.72218591T>CCA381743369FOLR2c.7T>C (p.Trp3Arg)
c.46T>C (p.Trp16Arg)
c.58T>C (p.Trp20Arg)
c.27+1666T>C (n.27+1666T>C)
c.52T>C (p.Trp18Arg)
c.40T>C (p.Trp14Arg)
c.145T>C (p.Trp49Arg)
c.34T>C (p.Trp12Arg)
gnomAD v4
11g.72218591T>GCA381743371FOLR2c.7T>G (p.Trp3Gly)
c.46T>G (p.Trp16Gly)
c.58T>G (p.Trp20Gly)
c.27+1666T>G (n.27+1666T>G)
c.52T>G (p.Trp18Gly)
c.40T>G (p.Trp14Gly)
c.145T>G (p.Trp49Gly)
c.34T>G (p.Trp12Gly)
11g.72218592G>ACA381743378FOLR2c.8G>A (p.Trp3Ter)
c.47G>A (p.Trp16Ter)
c.59G>A (p.Trp20Ter)
c.27+1667G>A (n.27+1667G>A)
c.53G>A (p.Trp18Ter)
c.41G>A (p.Trp14Ter)
c.146G>A (p.Trp49Ter)
c.35G>A (p.Trp12Ter)
11g.72218592G>CCA381743380FOLR2c.8G>C (p.Trp3Ser)
c.47G>C (p.Trp16Ser)
c.59G>C (p.Trp20Ser)
c.27+1667G>C (n.27+1667G>C)
c.53G>C (p.Trp18Ser)
c.41G>C (p.Trp14Ser)
c.146G>C (p.Trp49Ser)
c.35G>C (p.Trp12Ser)
11g.72218592G>TCA381743382FOLR2c.8G>T (p.Trp3Leu)
c.47G>T (p.Trp16Leu)
c.59G>T (p.Trp20Leu)
c.27+1667G>T (n.27+1667G>T)
c.53G>T (p.Trp18Leu)
c.41G>T (p.Trp14Leu)
c.146G>T (p.Trp49Leu)
c.35G>T (p.Trp12Leu)
11g.72218593G>ACA381743391FOLR2c.9G>A (p.Trp3Ter)
c.48G>A (p.Trp16Ter)
c.60G>A (p.Trp20Ter)
c.27+1668G>A (n.27+1668G>A)
c.54G>A (p.Trp18Ter)
c.42G>A (p.Trp14Ter)
c.147G>A (p.Trp49Ter)
c.36G>A (p.Trp12Ter)
gnomAD v4
11g.72218593G>CCA381743385FOLR2c.9G>C (p.Trp3Cys)
c.48G>C (p.Trp16Cys)
c.60G>C (p.Trp20Cys)
c.27+1668G>C (n.27+1668G>C)
c.54G>C (p.Trp18Cys)
c.42G>C (p.Trp14Cys)
c.147G>C (p.Trp49Cys)
c.36G>C (p.Trp12Cys)
11g.72218593G>TCA381743387FOLR2c.9G>T (p.Trp3Cys)
c.48G>T (p.Trp16Cys)
c.60G>T (p.Trp20Cys)
c.27+1668G>T (n.27+1668G>T)
c.54G>T (p.Trp18Cys)
c.42G>T (p.Trp14Cys)
c.147G>T (p.Trp49Cys)
c.36G>T (p.Trp12Cys)
11g.72218594A>CCA381743394FOLR2c.10A>C (p.Lys4Gln)
c.49A>C (p.Lys17Gln)
c.61A>C (p.Lys21Gln)
c.27+1669A>C (n.27+1669A>C)
c.55A>C (p.Lys19Gln)
c.43A>C (p.Lys15Gln)
c.148A>C (p.Lys50Gln)
c.37A>C (p.Lys13Gln)
11g.72218594A>GCA381743398FOLR2c.10A>G (p.Lys4Glu)
c.49A>G (p.Lys17Glu)
c.61A>G (p.Lys21Glu)
c.27+1669A>G (n.27+1669A>G)
c.55A>G (p.Lys19Glu)
c.43A>G (p.Lys15Glu)
c.148A>G (p.Lys50Glu)
c.37A>G (p.Lys13Glu)
11g.72218594A>TCA381743400FOLR2c.10A>T (p.Lys4Ter)
c.49A>T (p.Lys17Ter)
c.61A>T (p.Lys21Ter)
c.27+1669A>T (n.27+1669A>T)
c.55A>T (p.Lys19Ter)
c.43A>T (p.Lys15Ter)
c.148A>T (p.Lys50Ter)
c.37A>T (p.Lys13Ter)
11g.72218595A>CCA381743403FOLR2c.11A>C (p.Lys4Thr)
c.50A>C (p.Lys17Thr)
c.62A>C (p.Lys21Thr)
c.27+1670A>C (n.27+1670A>C)
c.56A>C (p.Lys19Thr)
c.44A>C (p.Lys15Thr)
c.149A>C (p.Lys50Thr)
c.38A>C (p.Lys13Thr)
11g.72218595A>GCA381743406FOLR2c.11A>G (p.Lys4Arg)
c.50A>G (p.Lys17Arg)
c.62A>G (p.Lys21Arg)
c.27+1670A>G (n.27+1670A>G)
c.56A>G (p.Lys19Arg)
c.44A>G (p.Lys15Arg)
c.149A>G (p.Lys50Arg)
c.38A>G (p.Lys13Arg)
11g.72218595A>TCA381743407FOLR2c.11A>T (p.Lys4Ile)
c.50A>T (p.Lys17Ile)
c.62A>T (p.Lys21Ile)
c.27+1670A>T (n.27+1670A>T)
c.56A>T (p.Lys19Ile)
c.44A>T (p.Lys15Ile)
c.149A>T (p.Lys50Ile)
c.38A>T (p.Lys13Ile)
11g.72218596A>CCA381743408FOLR2c.12A>C (p.Lys4Asn)
c.51A>C (p.Lys17Asn)
c.63A>C (p.Lys21Asn)
c.27+1671A>C (n.27+1671A>C)
c.57A>C (p.Lys19Asn)
c.45A>C (p.Lys15Asn)
c.150A>C (p.Lys50Asn)
c.39A>C (p.Lys13Asn)
11g.72218596A>GCA475605782FOLR2c.12A>G (p.Lys4=)
c.51A>G (p.Lys17=)
c.63A>G (p.Lys21=)
c.27+1671A>G (n.27+1671A>G)
c.57A>G (p.Lys19=)
c.45A>G (p.Lys15=)
c.150A>G (p.Lys50=)
c.39A>G (p.Lys13=)
11g.72218596A>TCA381743409FOLR2c.12A>T (p.Lys4Asn)
c.51A>T (p.Lys17Asn)
c.63A>T (p.Lys21Asn)
c.27+1671A>T (n.27+1671A>T)
c.57A>T (p.Lys19Asn)
c.45A>T (p.Lys15Asn)
c.150A>T (p.Lys50Asn)
c.39A>T (p.Lys13Asn)
11g.72218597T>ACA381743413FOLR2c.13T>A (p.Trp5Arg)
c.52T>A (p.Trp18Arg)
c.64T>A (p.Trp22Arg)
c.27+1672T>A (n.27+1672T>A)
c.58T>A (p.Trp20Arg)
c.46T>A (p.Trp16Arg)
c.151T>A (p.Trp51Arg)
c.40T>A (p.Trp14Arg)
dbSNP gnomAD v4
11g.72218597T>CCA381743415FOLR2c.13T>C (p.Trp5Arg)
c.52T>C (p.Trp18Arg)
c.64T>C (p.Trp22Arg)
c.27+1672T>C (n.27+1672T>C)
c.58T>C (p.Trp20Arg)
c.46T>C (p.Trp16Arg)
c.151T>C (p.Trp51Arg)
c.40T>C (p.Trp14Arg)
11g.72218597T>GCA381743421FOLR2c.13T>G (p.Trp5Gly)
c.52T>G (p.Trp18Gly)
c.64T>G (p.Trp22Gly)
c.27+1672T>G (n.27+1672T>G)
c.58T>G (p.Trp20Gly)
c.46T>G (p.Trp16Gly)
c.151T>G (p.Trp51Gly)
c.40T>G (p.Trp14Gly)
dbSNP gnomAD v2 gnomAD v4
11g.72218597T=CA1981892137FOLR2c.13T= (p.Trp5=)
c.52T= (p.Trp18=)
c.64T= (p.Trp22=)
c.27+1672T= (n.27+1672T=)
c.58T= (p.Trp20=)
c.46T= (p.Trp16=)
c.151T= (p.Trp51=)
c.40T= (p.Trp14=)
11g.72218598G>ACA381743423FOLR2c.14G>A (p.Trp5Ter)
c.53G>A (p.Trp18Ter)
c.65G>A (p.Trp22Ter)
c.27+1673G>A (n.27+1673G>A)
c.59G>A (p.Trp20Ter)
c.47G>A (p.Trp16Ter)
c.152G>A (p.Trp51Ter)
c.41G>A (p.Trp14Ter)
11g.72218598G>CCA381743425FOLR2c.14G>C (p.Trp5Ser)
c.53G>C (p.Trp18Ser)
c.65G>C (p.Trp22Ser)
c.27+1673G>C (n.27+1673G>C)
c.59G>C (p.Trp20Ser)
c.47G>C (p.Trp16Ser)
c.152G>C (p.Trp51Ser)
c.41G>C (p.Trp14Ser)
11g.72218598G=CA1981892138FOLR2c.14G= (p.Trp5=)
c.53G= (p.Trp18=)
c.65G= (p.Trp22=)
c.27+1673G= (n.27+1673G=)
c.59G= (p.Trp20=)
c.47G= (p.Trp16=)
c.152G= (p.Trp51=)
c.41G= (p.Trp14=)
11g.72218598G>TCA224424515FOLR2c.14G>T (p.Trp5Leu)
c.53G>T (p.Trp18Leu)
c.65G>T (p.Trp22Leu)
c.27+1673G>T (n.27+1673G>T)
c.59G>T (p.Trp20Leu)
c.47G>T (p.Trp16Leu)
c.152G>T (p.Trp51Leu)
c.41G>T (p.Trp14Leu)
dbSNP
11g.72218599G>ACA381743426FOLR2c.15G>A (p.Trp5Ter)
c.54G>A (p.Trp18Ter)
c.66G>A (p.Trp22Ter)
c.27+1674G>A (n.27+1674G>A)
c.60G>A (p.Trp20Ter)
c.48G>A (p.Trp16Ter)
c.153G>A (p.Trp51Ter)
c.42G>A (p.Trp14Ter)
COSMIC
11g.72218599G>CCA381743427FOLR2c.15G>C (p.Trp5Cys)
c.54G>C (p.Trp18Cys)
c.66G>C (p.Trp22Cys)
c.27+1674G>C (n.27+1674G>C)
c.60G>C (p.Trp20Cys)
c.48G>C (p.Trp16Cys)
c.153G>C (p.Trp51Cys)
c.42G>C (p.Trp14Cys)
11g.72218599G>TCA381743433FOLR2c.15G>T (p.Trp5Cys)
c.54G>T (p.Trp18Cys)
c.66G>T (p.Trp22Cys)
c.27+1674G>T (n.27+1674G>T)
c.60G>T (p.Trp20Cys)
c.48G>T (p.Trp16Cys)
c.153G>T (p.Trp51Cys)
c.42G>T (p.Trp14Cys)
11g.72218600A>CCA381743438FOLR2c.16A>C (p.Met6Leu)
c.55A>C (p.Met19Leu)
c.67A>C (p.Met23Leu)
c.27+1675A>C (n.27+1675A>C)
c.61A>C (p.Met21Leu)
c.49A>C (p.Met17Leu)
c.154A>C (p.Met52Leu)
c.43A>C (p.Met15Leu)
11g.72218600A>GCA381743441FOLR2c.16A>G (p.Met6Val)
c.55A>G (p.Met19Val)
c.67A>G (p.Met23Val)
c.27+1675A>G (n.27+1675A>G)
c.61A>G (p.Met21Val)
c.49A>G (p.Met17Val)
c.154A>G (p.Met52Val)
c.43A>G (p.Met15Val)
11g.72218600A>TCA381743443FOLR2c.16A>T (p.Met6Leu)
c.55A>T (p.Met19Leu)
c.67A>T (p.Met23Leu)
c.27+1675A>T (n.27+1675A>T)
c.61A>T (p.Met21Leu)
c.49A>T (p.Met17Leu)
c.154A>T (p.Met52Leu)
c.43A>T (p.Met15Leu)
11g.72218601T>ACA381743449FOLR2c.17T>A (p.Met6Lys)
c.56T>A (p.Met19Lys)
c.68T>A (p.Met23Lys)
c.27+1676T>A (n.27+1676T>A)
c.62T>A (p.Met21Lys)
c.50T>A (p.Met17Lys)
c.155T>A (p.Met52Lys)
c.44T>A (p.Met15Lys)
11g.72218601T>CCA381743452FOLR2c.17T>C (p.Met6Thr)
c.56T>C (p.Met19Thr)
c.68T>C (p.Met23Thr)
c.27+1676T>C (n.27+1676T>C)
c.62T>C (p.Met21Thr)
c.50T>C (p.Met17Thr)
c.155T>C (p.Met52Thr)
c.44T>C (p.Met15Thr)
11g.72218601T>GCA381743460FOLR2c.17T>G (p.Met6Arg)
c.56T>G (p.Met19Arg)
c.68T>G (p.Met23Arg)
c.27+1676T>G (n.27+1676T>G)
c.62T>G (p.Met21Arg)
c.50T>G (p.Met17Arg)
c.155T>G (p.Met52Arg)
c.44T>G (p.Met15Arg)
11g.72218602G>ACA381743462FOLR2c.18G>A (p.Met6Ile)
c.57G>A (p.Met19Ile)
c.69G>A (p.Met23Ile)
c.27+1677G>A (n.27+1677G>A)
c.63G>A (p.Met21Ile)
c.51G>A (p.Met17Ile)
c.156G>A (p.Met52Ile)
c.45G>A (p.Met15Ile)
11g.72218602G>CCA381743463FOLR2c.18G>C (p.Met6Ile)
c.57G>C (p.Met19Ile)
c.69G>C (p.Met23Ile)
c.27+1677G>C (n.27+1677G>C)
c.63G>C (p.Met21Ile)
c.51G>C (p.Met17Ile)
c.156G>C (p.Met52Ile)
c.45G>C (p.Met15Ile)
11g.72218602G>TCA381743464FOLR2c.18G>T (p.Met6Ile)
c.57G>T (p.Met19Ile)
c.69G>T (p.Met23Ile)
c.27+1677G>T (n.27+1677G>T)
c.63G>T (p.Met21Ile)
c.51G>T (p.Met17Ile)
c.156G>T (p.Met52Ile)
c.45G>T (p.Met15Ile)
11g.72218603C>ACA381743466FOLR2c.19C>A (p.Pro7Thr)
c.58C>A (p.Pro20Thr)
c.70C>A (p.Pro24Thr)
c.27+1678C>A (n.27+1678C>A)
c.64C>A (p.Pro22Thr)
c.52C>A (p.Pro18Thr)
c.157C>A (p.Pro53Thr)
c.46C>A (p.Pro16Thr)
11g.72218603C=CA1981892139FOLR2c.19C= (p.Pro7=)
c.58C= (p.Pro20=)
c.70C= (p.Pro24=)
c.27+1678C= (n.27+1678C=)
c.64C= (p.Pro22=)
c.52C= (p.Pro18=)
c.157C= (p.Pro53=)
c.46C= (p.Pro16=)
11g.72218603C>GCA381743468FOLR2c.19C>G (p.Pro7Ala)
c.58C>G (p.Pro20Ala)
c.70C>G (p.Pro24Ala)
c.27+1678C>G (n.27+1678C>G)
c.64C>G (p.Pro22Ala)
c.52C>G (p.Pro18Ala)
c.157C>G (p.Pro53Ala)
c.46C>G (p.Pro16Ala)
11g.72218603C>TCA381743465FOLR2c.19C>T (p.Pro7Ser)
c.58C>T (p.Pro20Ser)
c.70C>T (p.Pro24Ser)
c.27+1678C>T (n.27+1678C>T)
c.64C>T (p.Pro22Ser)
c.52C>T (p.Pro18Ser)
c.157C>T (p.Pro53Ser)
c.46C>T (p.Pro16Ser)
dbSNP
11g.72218604C>ACA381743469FOLR2c.20C>A (p.Pro7Gln)
c.59C>A (p.Pro20Gln)
c.71C>A (p.Pro24Gln)
c.27+1679C>A (n.27+1679C>A)
c.65C>A (p.Pro22Gln)
c.53C>A (p.Pro18Gln)
c.158C>A (p.Pro53Gln)
c.47C>A (p.Pro16Gln)
11g.72218604C>GCA381743470FOLR2c.20C>G (p.Pro7Arg)
c.59C>G (p.Pro20Arg)
c.71C>G (p.Pro24Arg)
c.27+1679C>G (n.27+1679C>G)
c.65C>G (p.Pro22Arg)
c.53C>G (p.Pro18Arg)
c.158C>G (p.Pro53Arg)
c.47C>G (p.Pro16Arg)
11g.72218604C>TCA381743472FOLR2c.20C>T (p.Pro7Leu)
c.59C>T (p.Pro20Leu)
c.71C>T (p.Pro24Leu)
c.27+1679C>T (n.27+1679C>T)
c.65C>T (p.Pro22Leu)
c.53C>T (p.Pro18Leu)
c.158C>T (p.Pro53Leu)
c.47C>T (p.Pro16Leu)
11g.72218605A=CA1981892140FOLR2c.21A= (p.Pro7=)
c.60A= (p.Pro20=)
c.72A= (p.Pro24=)
c.27+1680A= (n.27+1680A=)
c.66A= (p.Pro22=)
c.54A= (p.Pro18=)
c.159A= (p.Pro53=)
c.48A= (p.Pro16=)
11g.72218605A>CCA475605874FOLR2c.21A>C (p.Pro7=)
c.60A>C (p.Pro20=)
c.72A>C (p.Pro24=)
c.27+1680A>C (n.27+1680A>C)
c.66A>C (p.Pro22=)
c.54A>C (p.Pro18=)
c.159A>C (p.Pro53=)
c.48A>C (p.Pro16=)
dbSNP
11g.72218605A>GCA475605871FOLR2c.21A>G (p.Pro7=)
c.60A>G (p.Pro20=)
c.72A>G (p.Pro24=)
c.27+1680A>G (n.27+1680A>G)
c.66A>G (p.Pro22=)
c.54A>G (p.Pro18=)
c.159A>G (p.Pro53=)
c.48A>G (p.Pro16=)
11g.72218605A>TCA475605869FOLR2c.21A>T (p.Pro7=)
c.60A>T (p.Pro20=)
c.72A>T (p.Pro24=)
c.27+1680A>T (n.27+1680A>T)
c.66A>T (p.Pro22=)
c.54A>T (p.Pro18=)
c.159A>T (p.Pro53=)
c.48A>T (p.Pro16=)
11g.72218606C>ACA381743480FOLR2c.22C>A (p.Leu8Ile)
c.61C>A (p.Leu21Ile)
c.73C>A (p.Leu25Ile)
c.27+1681C>A (n.27+1681C>A)
c.67C>A (p.Leu23Ile)
c.55C>A (p.Leu19Ile)
c.160C>A (p.Leu54Ile)
c.49C>A (p.Leu17Ile)
dbSNP
11g.72218606C=CA1981892141FOLR2c.22C= (p.Leu8=)
c.61C= (p.Leu21=)
c.73C= (p.Leu25=)
c.27+1681C= (n.27+1681C=)
c.67C= (p.Leu23=)
c.55C= (p.Leu19=)
c.160C= (p.Leu54=)
c.49C= (p.Leu17=)
11g.72218606C>GCA381743482FOLR2c.22C>G (p.Leu8Val)
c.61C>G (p.Leu21Val)
c.73C>G (p.Leu25Val)
c.27+1681C>G (n.27+1681C>G)
c.67C>G (p.Leu23Val)
c.55C>G (p.Leu19Val)
c.160C>G (p.Leu54Val)
c.49C>G (p.Leu17Val)
11g.72218606C>TCA381743483FOLR2c.22C>T (p.Leu8Phe)
c.61C>T (p.Leu21Phe)
c.73C>T (p.Leu25Phe)
c.27+1681C>T (n.27+1681C>T)
c.67C>T (p.Leu23Phe)
c.55C>T (p.Leu19Phe)
c.160C>T (p.Leu54Phe)
c.49C>T (p.Leu17Phe)
gnomAD v4
11g.72218607T>ACA381743487FOLR2c.23T>A (p.Leu8His)
c.62T>A (p.Leu21His)
c.74T>A (p.Leu25His)
c.27+1682T>A (n.27+1682T>A)
c.68T>A (p.Leu23His)
c.56T>A (p.Leu19His)
c.161T>A (p.Leu54His)
c.50T>A (p.Leu17His)
11g.72218607T>CCA381743491FOLR2c.23T>C (p.Leu8Pro)
c.62T>C (p.Leu21Pro)
c.74T>C (p.Leu25Pro)
c.27+1682T>C (n.27+1682T>C)
c.68T>C (p.Leu23Pro)
c.56T>C (p.Leu19Pro)
c.161T>C (p.Leu54Pro)
c.50T>C (p.Leu17Pro)
11g.72218607T>GCA381743490FOLR2c.23T>G (p.Leu8Arg)
c.62T>G (p.Leu21Arg)
c.74T>G (p.Leu25Arg)
c.27+1682T>G (n.27+1682T>G)
c.68T>G (p.Leu23Arg)
c.56T>G (p.Leu19Arg)
c.161T>G (p.Leu54Arg)
c.50T>G (p.Leu17Arg)
11g.72218608T>ACA475605886FOLR2c.24T>A (p.Leu8=)
c.63T>A (p.Leu21=)
c.75T>A (p.Leu25=)
c.27+1683T>A (n.27+1683T>A)
c.69T>A (p.Leu23=)
c.57T>A (p.Leu19=)
c.162T>A (p.Leu54=)
c.51T>A (p.Leu17=)
11g.72218608T>CCA475605892FOLR2c.24T>C (p.Leu8=)
c.63T>C (p.Leu21=)
c.75T>C (p.Leu25=)
c.27+1683T>C (n.27+1683T>C)
c.69T>C (p.Leu23=)
c.57T>C (p.Leu19=)
c.162T>C (p.Leu54=)
c.51T>C (p.Leu17=)
11g.72218608T>GCA475605889FOLR2c.24T>G (p.Leu8=)
c.63T>G (p.Leu21=)
c.75T>G (p.Leu25=)
c.27+1683T>G (n.27+1683T>G)
c.69T>G (p.Leu23=)
c.57T>G (p.Leu19=)
c.162T>G (p.Leu54=)
c.51T>G (p.Leu17=)
11g.72218609C>ACA381743497FOLR2c.25C>A (p.Leu9Met)
c.64C>A (p.Leu22Met)
c.76C>A (p.Leu26Met)
c.27+1684C>A (n.27+1684C>A)
c.70C>A (p.Leu24Met)
c.58C>A (p.Leu20Met)
c.163C>A (p.Leu55Met)
c.52C>A (p.Leu18Met)
11g.72218609C=CA1981892142FOLR2c.25C= (p.Leu9=)
c.64C= (p.Leu22=)
c.76C= (p.Leu26=)
c.27+1684C= (n.27+1684C=)
c.70C= (p.Leu24=)
c.58C= (p.Leu20=)
c.163C= (p.Leu55=)
c.52C= (p.Leu18=)
11g.72218609C>GCA224424522FOLR2c.25C>G (p.Leu9Val)
c.64C>G (p.Leu22Val)
c.76C>G (p.Leu26Val)
c.27+1684C>G (n.27+1684C>G)
c.70C>G (p.Leu24Val)
c.58C>G (p.Leu20Val)
c.163C>G (p.Leu55Val)
c.52C>G (p.Leu18Val)
dbSNP gnomAD v4
11g.72218609C>TCA475605898FOLR2c.25C>T (p.Leu9=)
c.64C>T (p.Leu22=)
c.76C>T (p.Leu26=)
c.27+1684C>T (n.27+1684C>T)
c.70C>T (p.Leu24=)
c.58C>T (p.Leu20=)
c.163C>T (p.Leu55=)
c.52C>T (p.Leu18=)
11g.72218610T>ACA381743500FOLR2c.26T>A (p.Leu9Gln)
c.65T>A (p.Leu22Gln)
c.77T>A (p.Leu26Gln)
c.27+1685T>A (n.27+1685T>A)
c.71T>A (p.Leu24Gln)
c.59T>A (p.Leu20Gln)
c.164T>A (p.Leu55Gln)
c.53T>A (p.Leu18Gln)
11g.72218610T>CCA381743510FOLR2c.26T>C (p.Leu9Pro)
c.65T>C (p.Leu22Pro)
c.77T>C (p.Leu26Pro)
c.27+1685T>C (n.27+1685T>C)
c.71T>C (p.Leu24Pro)
c.59T>C (p.Leu20Pro)
c.164T>C (p.Leu55Pro)
c.53T>C (p.Leu18Pro)
11g.72218610T>GCA381743511FOLR2c.26T>G (p.Leu9Arg)
c.65T>G (p.Leu22Arg)
c.77T>G (p.Leu26Arg)
c.27+1685T>G (n.27+1685T>G)
c.71T>G (p.Leu24Arg)
c.59T>G (p.Leu20Arg)
c.164T>G (p.Leu55Arg)
c.53T>G (p.Leu18Arg)
11g.72218611G>ACA475605907FOLR2c.27G>A (p.Leu9=)
c.66G>A (p.Leu22=)
c.78G>A (p.Leu26=)
c.27+1686G>A (n.27+1686G>A)
c.72G>A (p.Leu24=)
c.60G>A (p.Leu20=)
c.165G>A (p.Leu55=)
c.54G>A (p.Leu18=)
11g.72218611G>CCA475605908FOLR2c.27G>C (p.Leu9=)
c.66G>C (p.Leu22=)
c.78G>C (p.Leu26=)
c.27+1686G>C (n.27+1686G>C)
c.72G>C (p.Leu24=)
c.60G>C (p.Leu20=)
c.165G>C (p.Leu55=)
c.54G>C (p.Leu18=)
dbSNP gnomAD v2 gnomAD v4
11g.72218611G=CA1981892143FOLR2c.27G= (p.Leu9=)
c.66G= (p.Leu22=)
c.78G= (p.Leu26=)
c.27+1686G= (n.27+1686G=)
c.72G= (p.Leu24=)
c.60G= (p.Leu20=)
c.165G= (p.Leu55=)
c.54G= (p.Leu18=)
11g.72218611G>TCA475605909FOLR2c.27G>T (p.Leu9=)
c.66G>T (p.Leu22=)
c.78G>T (p.Leu26=)
c.27+1686G>T (n.27+1686G>T)
c.72G>T (p.Leu24=)
c.60G>T (p.Leu20=)
c.165G>T (p.Leu55=)
c.54G>T (p.Leu18=)
11g.72218612C>ACA381743515FOLR2c.28C>A (p.Leu10Met)
c.67C>A (p.Leu23Met)
c.79C>A (p.Leu27Met)
c.27+1687C>A (n.27+1687C>A)
c.73C>A (p.Leu25Met)
c.61C>A (p.Leu21Met)
c.166C>A (p.Leu56Met)
c.55C>A (p.Leu19Met)
11g.72218612C>GCA381743514FOLR2c.28C>G (p.Leu10Val)
c.67C>G (p.Leu23Val)
c.79C>G (p.Leu27Val)
c.27+1687C>G (n.27+1687C>G)
c.73C>G (p.Leu25Val)
c.61C>G (p.Leu21Val)
c.166C>G (p.Leu56Val)
c.55C>G (p.Leu19Val)
11g.72218612C>TCA475605910FOLR2c.28C>T (p.Leu10=)
c.67C>T (p.Leu23=)
c.79C>T (p.Leu27=)
c.27+1687C>T (n.27+1687C>T)
c.73C>T (p.Leu25=)
c.61C>T (p.Leu21=)
c.166C>T (p.Leu56=)
c.55C>T (p.Leu19=)
gnomAD v4
11g.72218613T>ACA381743518FOLR2c.29T>A (p.Leu10Gln)
c.68T>A (p.Leu23Gln)
c.80T>A (p.Leu27Gln)
c.27+1688T>A (n.27+1688T>A)
c.74T>A (p.Leu25Gln)
c.62T>A (p.Leu21Gln)
c.167T>A (p.Leu56Gln)
c.56T>A (p.Leu19Gln)
11g.72218613T>CCA381743524FOLR2c.29T>C (p.Leu10Pro)
c.68T>C (p.Leu23Pro)
c.80T>C (p.Leu27Pro)
c.27+1688T>C (n.27+1688T>C)
c.74T>C (p.Leu25Pro)
c.62T>C (p.Leu21Pro)
c.167T>C (p.Leu56Pro)
c.56T>C (p.Leu19Pro)
11g.72218613T>GCA381743521FOLR2c.29T>G (p.Leu10Arg)
c.68T>G (p.Leu23Arg)
c.80T>G (p.Leu27Arg)
c.27+1688T>G (n.27+1688T>G)
c.74T>G (p.Leu25Arg)
c.62T>G (p.Leu21Arg)
c.167T>G (p.Leu56Arg)
c.56T>G (p.Leu19Arg)
11g.72218614G>ACA475605911FOLR2c.30G>A (p.Leu10=)
c.69G>A (p.Leu23=)
c.81G>A (p.Leu27=)
c.27+1689G>A (n.27+1689G>A)
c.75G>A (p.Leu25=)
c.63G>A (p.Leu21=)
c.168G>A (p.Leu56=)
c.57G>A (p.Leu19=)
dbSNP gnomAD v2 gnomAD v4
11g.72218614G>CCA475605912FOLR2c.30G>C (p.Leu10=)
c.69G>C (p.Leu23=)
c.81G>C (p.Leu27=)
c.27+1689G>C (n.27+1689G>C)
c.75G>C (p.Leu25=)
c.63G>C (p.Leu21=)
c.168G>C (p.Leu56=)
c.57G>C (p.Leu19=)
11g.72218614G=CA1981892144FOLR2c.30G= (p.Leu10=)
c.69G= (p.Leu23=)
c.81G= (p.Leu27=)
c.27+1689G= (n.27+1689G=)
c.75G= (p.Leu25=)
c.63G= (p.Leu21=)
c.168G= (p.Leu56=)
c.57G= (p.Leu19=)
11g.72218614G>TCA475605913FOLR2c.30G>T (p.Leu10=)
c.69G>T (p.Leu23=)
c.81G>T (p.Leu27=)
c.27+1689G>T (n.27+1689G>T)
c.75G>T (p.Leu25=)
c.63G>T (p.Leu21=)
c.168G>T (p.Leu56=)
c.57G>T (p.Leu19=)
11g.72218615C>ACA381743525FOLR2c.31C>A (p.Leu11Ile)
c.70C>A (p.Leu24Ile)
c.82C>A (p.Leu28Ile)
c.27+1690C>A (n.27+1690C>A)
c.76C>A (p.Leu26Ile)
c.64C>A (p.Leu22Ile)
c.169C>A (p.Leu57Ile)
c.58C>A (p.Leu20Ile)
11g.72218615C>GCA381743526FOLR2c.31C>G (p.Leu11Val)
c.70C>G (p.Leu24Val)
c.82C>G (p.Leu28Val)
c.27+1690C>G (n.27+1690C>G)
c.76C>G (p.Leu26Val)
c.64C>G (p.Leu22Val)
c.169C>G (p.Leu57Val)
c.58C>G (p.Leu20Val)
11g.72218615C>TCA381743528FOLR2c.31C>T (p.Leu11Phe)
c.70C>T (p.Leu24Phe)
c.82C>T (p.Leu28Phe)
c.27+1690C>T (n.27+1690C>T)
c.76C>T (p.Leu26Phe)
c.64C>T (p.Leu22Phe)
c.169C>T (p.Leu57Phe)
c.58C>T (p.Leu20Phe)
11g.72218616T>ACA381743540FOLR2c.32T>A (p.Leu11His)
c.71T>A (p.Leu24His)
c.83T>A (p.Leu28His)
c.27+1691T>A (n.27+1691T>A)
c.77T>A (p.Leu26His)
c.65T>A (p.Leu22His)
c.170T>A (p.Leu57His)
c.59T>A (p.Leu20His)
11g.72218616T>CCA381743542FOLR2c.32T>C (p.Leu11Pro)
c.71T>C (p.Leu24Pro)
c.83T>C (p.Leu28Pro)
c.27+1691T>C (n.27+1691T>C)
c.77T>C (p.Leu26Pro)
c.65T>C (p.Leu22Pro)
c.170T>C (p.Leu57Pro)
c.59T>C (p.Leu20Pro)
gnomAD v4
11g.72218616T>GCA381743545FOLR2c.32T>G (p.Leu11Arg)
c.71T>G (p.Leu24Arg)
c.83T>G (p.Leu28Arg)
c.27+1691T>G (n.27+1691T>G)
c.77T>G (p.Leu26Arg)
c.65T>G (p.Leu22Arg)
c.170T>G (p.Leu57Arg)
c.59T>G (p.Leu20Arg)
11g.72218617T>ACA475605916FOLR2c.33T>A (p.Leu11=)
c.72T>A (p.Leu24=)
c.84T>A (p.Leu28=)
c.27+1692T>A (n.27+1692T>A)
c.78T>A (p.Leu26=)
c.66T>A (p.Leu22=)
c.171T>A (p.Leu57=)
c.60T>A (p.Leu20=)
11g.72218617T>CCA6169306FOLR2c.33T>C (p.Leu11=)
c.72T>C (p.Leu24=)
c.84T>C (p.Leu28=)
c.27+1692T>C (n.27+1692T>C)
c.78T>C (p.Leu26=)
c.66T>C (p.Leu22=)
c.171T>C (p.Leu57=)
c.60T>C (p.Leu20=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72218617T>GCA475605917FOLR2c.33T>G (p.Leu11=)
c.72T>G (p.Leu24=)
c.84T>G (p.Leu28=)
c.27+1692T>G (n.27+1692T>G)
c.78T>G (p.Leu26=)
c.66T>G (p.Leu22=)
c.171T>G (p.Leu57=)
c.60T>G (p.Leu20=)
11g.72218617T=CA1981892145FOLR2c.33T= (p.Leu11=)
c.72T= (p.Leu24=)
c.84T= (p.Leu28=)
c.27+1692T= (n.27+1692T=)
c.78T= (p.Leu26=)
c.66T= (p.Leu22=)
c.171T= (p.Leu57=)
c.60T= (p.Leu20=)
11g.72218618C>ACA381743551FOLR2c.34C>A (p.Leu12Met)
c.73C>A (p.Leu25Met)
c.85C>A (p.Leu29Met)
c.27+1693C>A (n.27+1693C>A)
c.79C>A (p.Leu27Met)
c.67C>A (p.Leu23Met)
c.172C>A (p.Leu58Met)
c.61C>A (p.Leu21Met)
11g.72218618C>GCA381743554FOLR2c.34C>G (p.Leu12Val)
c.73C>G (p.Leu25Val)
c.85C>G (p.Leu29Val)
c.27+1693C>G (n.27+1693C>G)
c.79C>G (p.Leu27Val)
c.67C>G (p.Leu23Val)
c.172C>G (p.Leu58Val)
c.61C>G (p.Leu21Val)
11g.72218618C>TCA475605918FOLR2c.34C>T (p.Leu12=)
c.73C>T (p.Leu25=)
c.85C>T (p.Leu29=)
c.27+1693C>T (n.27+1693C>T)
c.79C>T (p.Leu27=)
c.67C>T (p.Leu23=)
c.172C>T (p.Leu58=)
c.61C>T (p.Leu21=)
11g.72218619T>ACA381743556FOLR2c.35T>A (p.Leu12Gln)
c.74T>A (p.Leu25Gln)
c.86T>A (p.Leu29Gln)
c.27+1694T>A (n.27+1694T>A)
c.80T>A (p.Leu27Gln)
c.68T>A (p.Leu23Gln)
c.173T>A (p.Leu58Gln)
c.62T>A (p.Leu21Gln)
11g.72218619T>CCA381743560FOLR2c.35T>C (p.Leu12Pro)
c.74T>C (p.Leu25Pro)
c.86T>C (p.Leu29Pro)
c.27+1694T>C (n.27+1694T>C)
c.80T>C (p.Leu27Pro)
c.68T>C (p.Leu23Pro)
c.173T>C (p.Leu58Pro)
c.62T>C (p.Leu21Pro)
11g.72218619T>GCA381743572FOLR2c.35T>G (p.Leu12Arg)
c.74T>G (p.Leu25Arg)
c.86T>G (p.Leu29Arg)
c.27+1694T>G (n.27+1694T>G)
c.80T>G (p.Leu27Arg)
c.68T>G (p.Leu23Arg)
c.173T>G (p.Leu58Arg)
c.62T>G (p.Leu21Arg)
11g.72218620G>ACA475605921FOLR2c.36G>A (p.Leu12=)
c.75G>A (p.Leu25=)
c.87G>A (p.Leu29=)
c.27+1695G>A (n.27+1695G>A)
c.81G>A (p.Leu27=)
c.69G>A (p.Leu23=)
c.174G>A (p.Leu58=)
c.63G>A (p.Leu21=)
11g.72218620G>CCA475605922FOLR2c.36G>C (p.Leu12=)
c.75G>C (p.Leu25=)
c.87G>C (p.Leu29=)
c.27+1695G>C (n.27+1695G>C)
c.81G>C (p.Leu27=)
c.69G>C (p.Leu23=)
c.174G>C (p.Leu58=)
c.63G>C (p.Leu21=)
11g.72218620G>TCA475605923FOLR2c.36G>T (p.Leu12=)
c.75G>T (p.Leu25=)
c.87G>T (p.Leu29=)
c.27+1695G>T (n.27+1695G>T)
c.81G>T (p.Leu27=)
c.69G>T (p.Leu23=)
c.174G>T (p.Leu58=)
c.63G>T (p.Leu21=)
11g.72218621G>ACA6169307FOLR2c.37G>A (p.Val13Ile)
c.76G>A (p.Val26Ile)
c.88G>A (p.Val30Ile)
c.27+1696G>A (n.27+1696G>A)
c.82G>A (p.Val28Ile)
c.70G>A (p.Val24Ile)
c.175G>A (p.Val59Ile)
c.64G>A (p.Val22Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72218621G>CCA381743575FOLR2c.37G>C (p.Val13Leu)
c.76G>C (p.Val26Leu)
c.88G>C (p.Val30Leu)
c.27+1696G>C (n.27+1696G>C)
c.82G>C (p.Val28Leu)
c.70G>C (p.Val24Leu)
c.175G>C (p.Val59Leu)
c.64G>C (p.Val22Leu)
11g.72218621G=CA1981892146FOLR2c.37G= (p.Val13=)
c.76G= (p.Val26=)
c.88G= (p.Val30=)
c.27+1696G= (n.27+1696G=)
c.82G= (p.Val28=)
c.70G= (p.Val24=)
c.175G= (p.Val59=)
c.64G= (p.Val22=)
11g.72218621G>TCA381743576FOLR2c.37G>T (p.Val13Phe)
c.76G>T (p.Val26Phe)
c.88G>T (p.Val30Phe)
c.27+1696G>T (n.27+1696G>T)
c.82G>T (p.Val28Phe)
c.70G>T (p.Val24Phe)
c.175G>T (p.Val59Phe)
c.64G>T (p.Val22Phe)
11g.72218622T>ACA6169308FOLR2c.38T>A (p.Val13Asp)
c.77T>A (p.Val26Asp)
c.89T>A (p.Val30Asp)
c.27+1697T>A (n.27+1697T>A)
c.83T>A (p.Val28Asp)
c.71T>A (p.Val24Asp)
c.176T>A (p.Val59Asp)
c.65T>A (p.Val22Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72218622T>CCA381743581FOLR2c.38T>C (p.Val13Ala)
c.77T>C (p.Val26Ala)
c.89T>C (p.Val30Ala)
c.27+1697T>C (n.27+1697T>C)
c.83T>C (p.Val28Ala)
c.71T>C (p.Val24Ala)
c.176T>C (p.Val59Ala)
c.65T>C (p.Val22Ala)
11g.72218622T>GCA381743585FOLR2c.38T>G (p.Val13Gly)
c.77T>G (p.Val26Gly)
c.89T>G (p.Val30Gly)
c.27+1697T>G (n.27+1697T>G)
c.83T>G (p.Val28Gly)
c.71T>G (p.Val24Gly)
c.176T>G (p.Val59Gly)
c.65T>G (p.Val22Gly)
11g.72218622T=CA1981892147FOLR2c.38T= (p.Val13=)
c.77T= (p.Val26=)
c.89T= (p.Val30=)
c.27+1697T= (n.27+1697T=)
c.83T= (p.Val28=)
c.71T= (p.Val24=)
c.176T= (p.Val59=)
c.65T= (p.Val22=)
11g.72218623C>ACA475605925FOLR2c.39C>A (p.Val13=)
c.78C>A (p.Val26=)
c.90C>A (p.Val30=)
c.27+1698C>A (n.27+1698C>A)
c.84C>A (p.Val28=)
c.72C>A (p.Val24=)
c.177C>A (p.Val59=)
c.66C>A (p.Val22=)
11g.72218623C>GCA475605927FOLR2c.39C>G (p.Val13=)
c.78C>G (p.Val26=)
c.90C>G (p.Val30=)
c.27+1698C>G (n.27+1698C>G)
c.84C>G (p.Val28=)
c.72C>G (p.Val24=)
c.177C>G (p.Val59=)
c.66C>G (p.Val22=)
11g.72218623C>TCA475605928FOLR2c.39C>T (p.Val13=)
c.78C>T (p.Val26=)
c.90C>T (p.Val30=)
c.27+1698C>T (n.27+1698C>T)
c.84C>T (p.Val28=)
c.72C>T (p.Val24=)
c.177C>T (p.Val59=)
c.66C>T (p.Val22=)
gnomAD v4
11g.72218624T>ACA381743593FOLR2c.40T>A (p.Cys14Ser)
c.79T>A (p.Cys27Ser)
c.91T>A (p.Cys31Ser)
c.27+1699T>A (n.27+1699T>A)
c.85T>A (p.Cys29Ser)
c.73T>A (p.Cys25Ser)
c.178T>A (p.Cys60Ser)
c.67T>A (p.Cys23Ser)
11g.72218624T>CCA381743597FOLR2c.40T>C (p.Cys14Arg)
c.79T>C (p.Cys27Arg)
c.91T>C (p.Cys31Arg)
c.27+1699T>C (n.27+1699T>C)
c.85T>C (p.Cys29Arg)
c.73T>C (p.Cys25Arg)
c.178T>C (p.Cys60Arg)
c.67T>C (p.Cys23Arg)
11g.72218624T>GCA381743598FOLR2c.40T>G (p.Cys14Gly)
c.79T>G (p.Cys27Gly)
c.91T>G (p.Cys31Gly)
c.27+1699T>G (n.27+1699T>G)
c.85T>G (p.Cys29Gly)
c.73T>G (p.Cys25Gly)
c.178T>G (p.Cys60Gly)
c.67T>G (p.Cys23Gly)
11g.72218625G>ACA381743601FOLR2c.41G>A (p.Cys14Tyr)
c.80G>A (p.Cys27Tyr)
c.92G>A (p.Cys31Tyr)
c.27+1700G>A (n.27+1700G>A)
c.86G>A (p.Cys29Tyr)
c.74G>A (p.Cys25Tyr)
c.179G>A (p.Cys60Tyr)
c.68G>A (p.Cys23Tyr)
11g.72218625G>CCA381743603FOLR2c.41G>C (p.Cys14Ser)
c.80G>C (p.Cys27Ser)
c.92G>C (p.Cys31Ser)
c.27+1700G>C (n.27+1700G>C)
c.86G>C (p.Cys29Ser)
c.74G>C (p.Cys25Ser)
c.179G>C (p.Cys60Ser)
c.68G>C (p.Cys23Ser)
11g.72218625G>TCA381743604FOLR2c.41G>T (p.Cys14Phe)
c.80G>T (p.Cys27Phe)
c.92G>T (p.Cys31Phe)
c.27+1700G>T (n.27+1700G>T)
c.86G>T (p.Cys29Phe)
c.74G>T (p.Cys25Phe)
c.179G>T (p.Cys60Phe)
c.68G>T (p.Cys23Phe)
11g.72218626T>ACA381743605FOLR2c.42T>A (p.Cys14Ter)
c.81T>A (p.Cys27Ter)
c.93T>A (p.Cys31Ter)
c.27+1701T>A (n.27+1701T>A)
c.87T>A (p.Cys29Ter)
c.75T>A (p.Cys25Ter)
c.180T>A (p.Cys60Ter)
c.69T>A (p.Cys23Ter)
11g.72218626T>CCA475605930FOLR2c.42T>C (p.Cys14=)
c.81T>C (p.Cys27=)
c.93T>C (p.Cys31=)
c.27+1701T>C (n.27+1701T>C)
c.87T>C (p.Cys29=)
c.75T>C (p.Cys25=)
c.180T>C (p.Cys60=)
c.69T>C (p.Cys23=)
11g.72218626T>GCA381743606FOLR2c.42T>G (p.Cys14Trp)
c.81T>G (p.Cys27Trp)
c.93T>G (p.Cys31Trp)
c.27+1701T>G (n.27+1701T>G)
c.87T>G (p.Cys29Trp)
c.75T>G (p.Cys25Trp)
c.180T>G (p.Cys60Trp)
c.69T>G (p.Cys23Trp)
11g.72218627G>ACA224424540FOLR2c.43G>A (p.Val15Ile)
c.82G>A (p.Val28Ile)
c.94G>A (p.Val32Ile)
c.27+1702G>A (n.27+1702G>A)
c.88G>A (p.Val30Ile)
c.76G>A (p.Val26Ile)
c.181G>A (p.Val61Ile)
c.70G>A (p.Val24Ile)
dbSNP gnomAD v3 gnomAD v4
11g.72218627G>CCA381743618FOLR2c.43G>C (p.Val15Leu)
c.82G>C (p.Val28Leu)
c.94G>C (p.Val32Leu)
c.27+1702G>C (n.27+1702G>C)
c.88G>C (p.Val30Leu)
c.76G>C (p.Val26Leu)
c.181G>C (p.Val61Leu)
c.70G>C (p.Val24Leu)
11g.72218627G=CA1981892148FOLR2c.43G= (p.Val15=)
c.82G= (p.Val28=)
c.94G= (p.Val32=)
c.27+1702G= (n.27+1702G=)
c.88G= (p.Val30=)
c.76G= (p.Val26=)
c.181G= (p.Val61=)
c.70G= (p.Val24=)
11g.72218627G>TCA381743609FOLR2c.43G>T (p.Val15Leu)
c.82G>T (p.Val28Leu)
c.94G>T (p.Val32Leu)
c.27+1702G>T (n.27+1702G>T)
c.88G>T (p.Val30Leu)
c.76G>T (p.Val26Leu)
c.181G>T (p.Val61Leu)
c.70G>T (p.Val24Leu)
11g.72218628T>ACA381743621FOLR2c.44T>A (p.Val15Glu)
c.83T>A (p.Val28Glu)
c.95T>A (p.Val32Glu)
c.27+1703T>A (n.27+1703T>A)
c.89T>A (p.Val30Glu)
c.77T>A (p.Val26Glu)
c.182T>A (p.Val61Glu)
c.71T>A (p.Val24Glu)
11g.72218628T>CCA381743622FOLR2c.44T>C (p.Val15Ala)
c.83T>C (p.Val28Ala)
c.95T>C (p.Val32Ala)
c.27+1703T>C (n.27+1703T>C)
c.89T>C (p.Val30Ala)
c.77T>C (p.Val26Ala)
c.182T>C (p.Val61Ala)
c.71T>C (p.Val24Ala)
11g.72218628T>GCA381743623FOLR2c.44T>G (p.Val15Gly)
c.83T>G (p.Val28Gly)
c.95T>G (p.Val32Gly)
c.27+1703T>G (n.27+1703T>G)
c.89T>G (p.Val30Gly)
c.77T>G (p.Val26Gly)
c.182T>G (p.Val61Gly)
c.71T>G (p.Val24Gly)
11g.72218629A>CCA475605933FOLR2c.45A>C (p.Val15=)
c.84A>C (p.Val28=)
c.96A>C (p.Val32=)
c.27+1704A>C (n.27+1704A>C)
c.90A>C (p.Val30=)
c.78A>C (p.Val26=)
c.183A>C (p.Val61=)
c.72A>C (p.Val24=)
11g.72218629A>GCA475605932FOLR2c.45A>G (p.Val15=)
c.84A>G (p.Val28=)
c.96A>G (p.Val32=)
c.27+1704A>G (n.27+1704A>G)
c.90A>G (p.Val30=)
c.78A>G (p.Val26=)
c.183A>G (p.Val61=)
c.72A>G (p.Val24=)
11g.72218629A>TCA475605931FOLR2c.45A>T (p.Val15=)
c.84A>T (p.Val28=)
c.96A>T (p.Val32=)
c.27+1704A>T (n.27+1704A>T)
c.90A>T (p.Val30=)
c.78A>T (p.Val26=)
c.183A>T (p.Val61=)
c.72A>T (p.Val24=)
11g.72218630G>ACA6169309FOLR2c.46G>A (p.Ala16Thr)
c.85G>A (p.Ala29Thr)
c.97G>A (p.Ala33Thr)
c.27+1705G>A (n.27+1705G>A)
c.91G>A (p.Ala31Thr)
c.79G>A (p.Ala27Thr)
c.184G>A (p.Ala62Thr)
c.73G>A (p.Ala25Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72218630G>CCA381743634FOLR2c.46G>C (p.Ala16Pro)
c.85G>C (p.Ala29Pro)
c.97G>C (p.Ala33Pro)
c.27+1705G>C (n.27+1705G>C)
c.91G>C (p.Ala31Pro)
c.79G>C (p.Ala27Pro)
c.184G>C (p.Ala62Pro)
c.73G>C (p.Ala25Pro)
11g.72218630G=CA1981892149FOLR2c.46G= (p.Ala16=)
c.85G= (p.Ala29=)
c.97G= (p.Ala33=)
c.27+1705G= (n.27+1705G=)
c.91G= (p.Ala31=)
c.79G= (p.Ala27=)
c.184G= (p.Ala62=)
c.73G= (p.Ala25=)
11g.72218630G>TCA381743640FOLR2c.46G>T (p.Ala16Ser)
c.85G>T (p.Ala29Ser)
c.97G>T (p.Ala33Ser)
c.27+1705G>T (n.27+1705G>T)
c.91G>T (p.Ala31Ser)
c.79G>T (p.Ala27Ser)
c.184G>T (p.Ala62Ser)
c.73G>T (p.Ala25Ser)
11g.72218631C>ACA381743642FOLR2c.47C>A (p.Ala16Asp)
c.86C>A (p.Ala29Asp)
c.98C>A (p.Ala33Asp)
c.27+1706C>A (n.27+1706C>A)
c.92C>A (p.Ala31Asp)
c.80C>A (p.Ala27Asp)
c.185C>A (p.Ala62Asp)
c.74C>A (p.Ala25Asp)
dbSNP gnomAD v3 gnomAD v4
11g.72218631C=CA1981892150FOLR2c.47C= (p.Ala16=)
c.86C= (p.Ala29=)
c.98C= (p.Ala33=)
c.27+1706C= (n.27+1706C=)
c.92C= (p.Ala31=)
c.80C= (p.Ala27=)
c.185C= (p.Ala62=)
c.74C= (p.Ala25=)
11g.72218631C>GCA381743647FOLR2c.47C>G (p.Ala16Gly)
c.86C>G (p.Ala29Gly)
c.98C>G (p.Ala33Gly)
c.27+1706C>G (n.27+1706C>G)
c.92C>G (p.Ala31Gly)
c.80C>G (p.Ala27Gly)
c.185C>G (p.Ala62Gly)
c.74C>G (p.Ala25Gly)
11g.72218631C>TCA381743650FOLR2c.47C>T (p.Ala16Val)
c.86C>T (p.Ala29Val)
c.98C>T (p.Ala33Val)
c.27+1706C>T (n.27+1706C>T)
c.92C>T (p.Ala31Val)
c.80C>T (p.Ala27Val)
c.185C>T (p.Ala62Val)
c.74C>T (p.Ala25Val)
11g.72218632C>ACA475605934FOLR2c.48C>A (p.Ala16=)
c.87C>A (p.Ala29=)
c.99C>A (p.Ala33=)
c.27+1707C>A (n.27+1707C>A)
c.93C>A (p.Ala31=)
c.81C>A (p.Ala27=)
c.186C>A (p.Ala62=)
c.75C>A (p.Ala25=)
11g.72218632C>GCA475605935FOLR2c.48C>G (p.Ala16=)
c.87C>G (p.Ala29=)
c.99C>G (p.Ala33=)
c.27+1707C>G (n.27+1707C>G)
c.93C>G (p.Ala31=)
c.81C>G (p.Ala27=)
c.186C>G (p.Ala62=)
c.75C>G (p.Ala25=)
11g.72218632C>TCA475605936FOLR2c.48C>T (p.Ala16=)
c.87C>T (p.Ala29=)
c.99C>T (p.Ala33=)
c.27+1707C>T (n.27+1707C>T)
c.93C>T (p.Ala31=)
c.81C>T (p.Ala27=)
c.186C>T (p.Ala62=)
c.75C>T (p.Ala25=)
11g.72218633A>CCA381743658FOLR2c.49A>C (p.Thr17Pro)
c.88A>C (p.Thr30Pro)
c.100A>C (p.Thr34Pro)
c.27+1708A>C (n.27+1708A>C)
c.94A>C (p.Thr32Pro)
c.82A>C (p.Thr28Pro)
c.187A>C (p.Thr63Pro)
c.76A>C (p.Thr26Pro)
11g.72218633A>GCA381743662FOLR2c.49A>G (p.Thr17Ala)
c.88A>G (p.Thr30Ala)
c.100A>G (p.Thr34Ala)
c.27+1708A>G (n.27+1708A>G)
c.94A>G (p.Thr32Ala)
c.82A>G (p.Thr28Ala)
c.187A>G (p.Thr63Ala)
c.76A>G (p.Thr26Ala)
11g.72218633A>TCA381743663FOLR2c.49A>T (p.Thr17Ser)
c.88A>T (p.Thr30Ser)
c.100A>T (p.Thr34Ser)
c.27+1708A>T (n.27+1708A>T)
c.94A>T (p.Thr32Ser)
c.82A>T (p.Thr28Ser)
c.187A>T (p.Thr63Ser)
c.76A>T (p.Thr26Ser)
11g.72218634C>ACA381743667FOLR2c.50C>A (p.Thr17Asn)
c.89C>A (p.Thr30Asn)
c.101C>A (p.Thr34Asn)
c.27+1709C>A (n.27+1709C>A)
c.95C>A (p.Thr32Asn)
c.83C>A (p.Thr28Asn)
c.188C>A (p.Thr63Asn)
c.77C>A (p.Thr26Asn)
11g.72218634C>GCA381743668FOLR2c.50C>G (p.Thr17Ser)
c.89C>G (p.Thr30Ser)
c.101C>G (p.Thr34Ser)
c.27+1709C>G (n.27+1709C>G)
c.95C>G (p.Thr32Ser)
c.83C>G (p.Thr28Ser)
c.188C>G (p.Thr63Ser)
c.77C>G (p.Thr26Ser)
11g.72218634C>TCA381743666FOLR2c.50C>T (p.Thr17Ile)
c.89C>T (p.Thr30Ile)
c.101C>T (p.Thr34Ile)
c.27+1709C>T (n.27+1709C>T)
c.95C>T (p.Thr32Ile)
c.83C>T (p.Thr28Ile)
c.188C>T (p.Thr63Ile)
c.77C>T (p.Thr26Ile)
gnomAD v4
11g.72218635C>ACA475605938FOLR2c.51C>A (p.Thr17=)
c.90C>A (p.Thr30=)
c.102C>A (p.Thr34=)
c.27+1710C>A (n.27+1710C>A)
c.96C>A (p.Thr32=)
c.84C>A (p.Thr28=)
c.189C>A (p.Thr63=)
c.78C>A (p.Thr26=)
gnomAD v4
11g.72218635C=CA1981892151FOLR2c.51C= (p.Thr17=)
c.90C= (p.Thr30=)
c.102C= (p.Thr34=)
c.27+1710C= (n.27+1710C=)
c.96C= (p.Thr32=)
c.84C= (p.Thr28=)
c.189C= (p.Thr63=)
c.78C= (p.Thr26=)
11g.72218635C>GCA475605939FOLR2c.51C>G (p.Thr17=)
c.90C>G (p.Thr30=)
c.102C>G (p.Thr34=)
c.27+1710C>G (n.27+1710C>G)
c.96C>G (p.Thr32=)
c.84C>G (p.Thr28=)
c.189C>G (p.Thr63=)
c.78C>G (p.Thr26=)
11g.72218635C>TCA224424549FOLR2c.51C>T (p.Thr17=)
c.90C>T (p.Thr30=)
c.102C>T (p.Thr34=)
c.27+1710C>T (n.27+1710C>T)
c.96C>T (p.Thr32=)
c.84C>T (p.Thr28=)
c.189C>T (p.Thr63=)
c.78C>T (p.Thr26=)
dbSNP gnomAD v3 gnomAD v4
11g.72218636A>CCA381743669FOLR2c.52A>C (p.Met18Leu)
c.91A>C (p.Met31Leu)
c.103A>C (p.Met35Leu)
c.27+1711A>C (n.27+1711A>C)
c.97A>C (p.Met33Leu)
c.85A>C (p.Met29Leu)
c.190A>C (p.Met64Leu)
c.79A>C (p.Met27Leu)
11g.72218636A>GCA381743673FOLR2c.52A>G (p.Met18Val)
c.91A>G (p.Met31Val)
c.103A>G (p.Met35Val)
c.27+1711A>G (n.27+1711A>G)
c.97A>G (p.Met33Val)
c.85A>G (p.Met29Val)
c.190A>G (p.Met64Val)
c.79A>G (p.Met27Val)
11g.72218636A>TCA381743678FOLR2c.52A>T (p.Met18Leu)
c.91A>T (p.Met31Leu)
c.103A>T (p.Met35Leu)
c.27+1711A>T (n.27+1711A>T)
c.97A>T (p.Met33Leu)
c.85A>T (p.Met29Leu)
c.190A>T (p.Met64Leu)
c.79A>T (p.Met27Leu)
gnomAD v4
11g.72218637T>ACA381743681FOLR2c.53T>A (p.Met18Lys)
c.92T>A (p.Met31Lys)
c.104T>A (p.Met35Lys)
c.27+1712T>A (n.27+1712T>A)
c.98T>A (p.Met33Lys)
c.86T>A (p.Met29Lys)
c.191T>A (p.Met64Lys)
c.80T>A (p.Met27Lys)
gnomAD v4
11g.72218637T>CCA381743683FOLR2c.53T>C (p.Met18Thr)
c.92T>C (p.Met31Thr)
c.104T>C (p.Met35Thr)
c.27+1712T>C (n.27+1712T>C)
c.98T>C (p.Met33Thr)
c.86T>C (p.Met29Thr)
c.191T>C (p.Met64Thr)
c.80T>C (p.Met27Thr)
dbSNP gnomAD v4
11g.72218637T>GCA381743685FOLR2c.53T>G (p.Met18Arg)
c.92T>G (p.Met31Arg)
c.104T>G (p.Met35Arg)
c.27+1712T>G (n.27+1712T>G)
c.98T>G (p.Met33Arg)
c.86T>G (p.Met29Arg)
c.191T>G (p.Met64Arg)
c.80T>G (p.Met27Arg)
11g.72218637T=CA1981892152FOLR2c.53T= (p.Met18=)
c.92T= (p.Met31=)
c.104T= (p.Met35=)
c.27+1712T= (n.27+1712T=)
c.98T= (p.Met33=)
c.86T= (p.Met29=)
c.191T= (p.Met64=)
c.80T= (p.Met27=)
11g.72218638G>ACA381743698FOLR2c.54G>A (p.Met18Ile)
c.93G>A (p.Met31Ile)
c.105G>A (p.Met35Ile)
c.27+1713G>A (n.27+1713G>A)
c.99G>A (p.Met33Ile)
c.87G>A (p.Met29Ile)
c.192G>A (p.Met64Ile)
c.81G>A (p.Met27Ile)
11g.72218638G>CCA381743696FOLR2c.54G>C (p.Met18Ile)
c.93G>C (p.Met31Ile)
c.105G>C (p.Met35Ile)
c.27+1713G>C (n.27+1713G>C)
c.99G>C (p.Met33Ile)
c.87G>C (p.Met29Ile)
c.192G>C (p.Met64Ile)
c.81G>C (p.Met27Ile)
11g.72218638G>TCA381743697FOLR2c.54G>T (p.Met18Ile)
c.93G>T (p.Met31Ile)
c.105G>T (p.Met35Ile)
c.27+1713G>T (n.27+1713G>T)
c.99G>T (p.Met33Ile)
c.87G>T (p.Met29Ile)
c.192G>T (p.Met64Ile)
c.81G>T (p.Met27Ile)
11g.72218639T>ACA381743700FOLR2c.55T>A (p.Cys19Ser)
c.94T>A (p.Cys32Ser)
c.106T>A (p.Cys36Ser)
c.27+1714T>A (n.27+1714T>A)
c.100T>A (p.Cys34Ser)
c.88T>A (p.Cys30Ser)
c.193T>A (p.Cys65Ser)
c.82T>A (p.Cys28Ser)
11g.72218639T>CCA381743701FOLR2c.55T>C (p.Cys19Arg)
c.94T>C (p.Cys32Arg)
c.106T>C (p.Cys36Arg)
c.27+1714T>C (n.27+1714T>C)
c.100T>C (p.Cys34Arg)
c.88T>C (p.Cys30Arg)
c.193T>C (p.Cys65Arg)
c.82T>C (p.Cys28Arg)
11g.72218639T>GCA381743704FOLR2c.55T>G (p.Cys19Gly)
c.94T>G (p.Cys32Gly)
c.106T>G (p.Cys36Gly)
c.27+1714T>G (n.27+1714T>G)
c.100T>G (p.Cys34Gly)
c.88T>G (p.Cys30Gly)
c.193T>G (p.Cys65Gly)
c.82T>G (p.Cys28Gly)
11g.72218640G>ACA6169310FOLR2c.56G>A (p.Cys19Tyr)
c.95G>A (p.Cys32Tyr)
c.107G>A (p.Cys36Tyr)
c.27+1715G>A (n.27+1715G>A)
c.101G>A (p.Cys34Tyr)
c.89G>A (p.Cys30Tyr)
c.194G>A (p.Cys65Tyr)
c.83G>A (p.Cys28Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72218640G>CCA381743712FOLR2c.56G>C (p.Cys19Ser)
c.95G>C (p.Cys32Ser)
c.107G>C (p.Cys36Ser)
c.27+1715G>C (n.27+1715G>C)
c.101G>C (p.Cys34Ser)
c.89G>C (p.Cys30Ser)
c.194G>C (p.Cys65Ser)
c.83G>C (p.Cys28Ser)
11g.72218640G=CA1981892153FOLR2c.56G= (p.Cys19=)
c.95G= (p.Cys32=)
c.107G= (p.Cys36=)
c.27+1715G= (n.27+1715G=)
c.101G= (p.Cys34=)
c.89G= (p.Cys30=)
c.194G= (p.Cys65=)
c.83G= (p.Cys28=)
11g.72218640G>TCA381743714FOLR2c.56G>T (p.Cys19Phe)
c.95G>T (p.Cys32Phe)
c.107G>T (p.Cys36Phe)
c.27+1715G>T (n.27+1715G>T)
c.101G>T (p.Cys34Phe)
c.89G>T (p.Cys30Phe)
c.194G>T (p.Cys65Phe)
c.83G>T (p.Cys28Phe)
gnomAD v4
11g.72218641C>ACA381743720FOLR2c.57C>A (p.Cys19Ter)
c.96C>A (p.Cys32Ter)
c.108C>A (p.Cys36Ter)
c.27+1716C>A (n.27+1716C>A)
c.102C>A (p.Cys34Ter)
c.90C>A (p.Cys30Ter)
c.195C>A (p.Cys65Ter)
c.84C>A (p.Cys28Ter)
11g.72218641C=CA1981892154FOLR2c.57C= (p.Cys19=)
c.96C= (p.Cys32=)
c.108C= (p.Cys36=)
c.27+1716C= (n.27+1716C=)
c.102C= (p.Cys34=)
c.90C= (p.Cys30=)
c.195C= (p.Cys65=)
c.84C= (p.Cys28=)
11g.72218641C>GCA381743716FOLR2c.57C>G (p.Cys19Trp)
c.96C>G (p.Cys32Trp)
c.108C>G (p.Cys36Trp)
c.27+1716C>G (n.27+1716C>G)
c.102C>G (p.Cys34Trp)
c.90C>G (p.Cys30Trp)
c.195C>G (p.Cys65Trp)
c.84C>G (p.Cys28Trp)
dbSNP
11g.72218641C>TCA475605945FOLR2c.57C>T (p.Cys19=)
c.96C>T (p.Cys32=)
c.108C>T (p.Cys36=)
c.27+1716C>T (n.27+1716C>T)
c.102C>T (p.Cys34=)
c.90C>T (p.Cys30=)
c.195C>T (p.Cys65=)
c.84C>T (p.Cys28=)
11g.72218642A>CCA381743723FOLR2c.58A>C (p.Ser20Arg)
c.97A>C (p.Ser33Arg)
c.109A>C (p.Ser37Arg)
c.27+1717A>C (n.27+1717A>C)
c.103A>C (p.Ser35Arg)
c.91A>C (p.Ser31Arg)
c.196A>C (p.Ser66Arg)
c.85A>C (p.Ser29Arg)
11g.72218642A>GCA381743728FOLR2c.58A>G (p.Ser20Gly)
c.97A>G (p.Ser33Gly)
c.109A>G (p.Ser37Gly)
c.27+1717A>G (n.27+1717A>G)
c.103A>G (p.Ser35Gly)
c.91A>G (p.Ser31Gly)
c.196A>G (p.Ser66Gly)
c.85A>G (p.Ser29Gly)
11g.72218642A>TCA381743725FOLR2c.58A>T (p.Ser20Cys)
c.97A>T (p.Ser33Cys)
c.109A>T (p.Ser37Cys)
c.27+1717A>T (n.27+1717A>T)
c.103A>T (p.Ser35Cys)
c.91A>T (p.Ser31Cys)
c.196A>T (p.Ser66Cys)
c.85A>T (p.Ser29Cys)
11g.72218643G>ACA6169311FOLR2c.59G>A (p.Ser20Asn)
c.98G>A (p.Ser33Asn)
c.110G>A (p.Ser37Asn)
c.27+1718G>A (n.27+1718G>A)
c.104G>A (p.Ser35Asn)
c.92G>A (p.Ser31Asn)
c.197G>A (p.Ser66Asn)
c.86G>A (p.Ser29Asn)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.72218643G>CCA381743736FOLR2c.59G>C (p.Ser20Thr)
c.98G>C (p.Ser33Thr)
c.110G>C (p.Ser37Thr)
c.27+1718G>C (n.27+1718G>C)
c.104G>C (p.Ser35Thr)
c.92G>C (p.Ser31Thr)
c.197G>C (p.Ser66Thr)
c.86G>C (p.Ser29Thr)
11g.72218643G=CA1981892155FOLR2c.59G= (p.Ser20=)
c.98G= (p.Ser33=)
c.110G= (p.Ser37=)
c.27+1718G= (n.27+1718G=)
c.104G= (p.Ser35=)
c.92G= (p.Ser31=)
c.197G= (p.Ser66=)
c.86G= (p.Ser29=)
11g.72218643G>TCA381743733FOLR2c.59G>T (p.Ser20Ile)
c.98G>T (p.Ser33Ile)
c.110G>T (p.Ser37Ile)
c.27+1718G>T (n.27+1718G>T)
c.104G>T (p.Ser35Ile)
c.92G>T (p.Ser31Ile)
c.197G>T (p.Ser66Ile)
c.86G>T (p.Ser29Ile)
11g.72218644T>ACA381743741FOLR2c.60T>A (p.Ser20Arg)
c.99T>A (p.Ser33Arg)
c.111T>A (p.Ser37Arg)
c.27+1719T>A (n.27+1719T>A)
c.105T>A (p.Ser35Arg)
c.93T>A (p.Ser31Arg)
c.198T>A (p.Ser66Arg)
c.87T>A (p.Ser29Arg)
11g.72218644T>CCA475605946FOLR2c.60T>C (p.Ser20=)
c.99T>C (p.Ser33=)
c.111T>C (p.Ser37=)
c.27+1719T>C (n.27+1719T>C)
c.105T>C (p.Ser35=)
c.93T>C (p.Ser31=)
c.198T>C (p.Ser66=)
c.87T>C (p.Ser29=)
11g.72218644T>GCA6169312FOLR2c.60T>G (p.Ser20Arg)
c.99T>G (p.Ser33Arg)
c.111T>G (p.Ser37Arg)
c.27+1719T>G (n.27+1719T>G)
c.105T>G (p.Ser35Arg)
c.93T>G (p.Ser31Arg)
c.198T>G (p.Ser66Arg)
c.87T>G (p.Ser29Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72218644T=CA1981892156FOLR2c.60T= (p.Ser20=)
c.99T= (p.Ser33=)
c.111T= (p.Ser37=)
c.27+1719T= (n.27+1719T=)
c.105T= (p.Ser35=)
c.93T= (p.Ser31=)
c.198T= (p.Ser66=)
c.87T= (p.Ser29=)
11g.72218645G>ACA381743746FOLR2c.61G>A (p.Ala21Thr)
c.100G>A (p.Ala34Thr)
c.112G>A (p.Ala38Thr)
c.27+1720G>A (n.27+1720G>A)
c.106G>A (p.Ala36Thr)
c.94G>A (p.Ala32Thr)
c.199G>A (p.Ala67Thr)
c.88G>A (p.Ala30Thr)
11g.72218645G>CCA381743749FOLR2c.61G>C (p.Ala21Pro)
c.100G>C (p.Ala34Pro)
c.112G>C (p.Ala38Pro)
c.27+1720G>C (n.27+1720G>C)
c.106G>C (p.Ala36Pro)
c.94G>C (p.Ala32Pro)
c.199G>C (p.Ala67Pro)
c.88G>C (p.Ala30Pro)
COSMIC
11g.72218645G>TCA381743747FOLR2c.61G>T (p.Ala21Ser)
c.100G>T (p.Ala34Ser)
c.112G>T (p.Ala38Ser)
c.27+1720G>T (n.27+1720G>T)
c.106G>T (p.Ala36Ser)
c.94G>T (p.Ala32Ser)
c.199G>T (p.Ala67Ser)
c.88G>T (p.Ala30Ser)
11g.72218646C>ACA381743751FOLR2c.62C>A (p.Ala21Asp)
c.101C>A (p.Ala34Asp)
c.113C>A (p.Ala38Asp)
c.27+1721C>A (n.27+1721C>A)
c.107C>A (p.Ala36Asp)
c.95C>A (p.Ala32Asp)
c.200C>A (p.Ala67Asp)
c.89C>A (p.Ala30Asp)
11g.72218646C>GCA381743752FOLR2c.62C>G (p.Ala21Gly)
c.101C>G (p.Ala34Gly)
c.113C>G (p.Ala38Gly)
c.27+1721C>G (n.27+1721C>G)
c.107C>G (p.Ala36Gly)
c.95C>G (p.Ala32Gly)
c.200C>G (p.Ala67Gly)
c.89C>G (p.Ala30Gly)
11g.72218646C>TCA381743753FOLR2c.62C>T (p.Ala21Val)
c.101C>T (p.Ala34Val)
c.113C>T (p.Ala38Val)
c.27+1721C>T (n.27+1721C>T)
c.107C>T (p.Ala36Val)
c.95C>T (p.Ala32Val)
c.200C>T (p.Ala67Val)
c.89C>T (p.Ala30Val)
11g.72218647C>ACA475605948FOLR2c.63C>A (p.Ala21=)
c.102C>A (p.Ala34=)
c.114C>A (p.Ala38=)
c.27+1722C>A (n.27+1722C>A)
c.108C>A (p.Ala36=)
c.96C>A (p.Ala32=)
c.201C>A (p.Ala67=)
c.90C>A (p.Ala30=)
11g.72218647C=CA1981892157FOLR2c.63C= (p.Ala21=)
c.102C= (p.Ala34=)
c.114C= (p.Ala38=)
c.27+1722C= (n.27+1722C=)
c.108C= (p.Ala36=)
c.96C= (p.Ala32=)
c.201C= (p.Ala67=)
c.90C= (p.Ala30=)
11g.72218647C>GCA224424561FOLR2c.63C>G (p.Ala21=)
c.102C>G (p.Ala34=)
c.114C>G (p.Ala38=)
c.27+1722C>G (n.27+1722C>G)
c.108C>G (p.Ala36=)
c.96C>G (p.Ala32=)
c.201C>G (p.Ala67=)
c.90C>G (p.Ala30=)
dbSNP gnomAD v2 gnomAD v4
11g.72218647C>TCA475605949FOLR2c.63C>T (p.Ala21=)
c.102C>T (p.Ala34=)
c.114C>T (p.Ala38=)
c.27+1722C>T (n.27+1722C>T)
c.108C>T (p.Ala36=)
c.96C>T (p.Ala32=)
c.201C>T (p.Ala67=)
c.90C>T (p.Ala30=)
gnomAD v4
11g.72218648C>ACA381743757FOLR2c.64C>A (p.Gln22Lys)
c.103C>A (p.Gln35Lys)
c.115C>A (p.Gln39Lys)
c.27+1723C>A (n.27+1723C>A)
c.109C>A (p.Gln37Lys)
c.97C>A (p.Gln33Lys)
c.202C>A (p.Gln68Lys)
c.91C>A (p.Gln31Lys)
11g.72218648C=CA1981892158FOLR2c.64C= (p.Gln22=)
c.103C= (p.Gln35=)
c.115C= (p.Gln39=)
c.27+1723C= (n.27+1723C=)
c.109C= (p.Gln37=)
c.97C= (p.Gln33=)
c.202C= (p.Gln68=)
c.91C= (p.Gln31=)
11g.72218648C>GCA381743758FOLR2c.64C>G (p.Gln22Glu)
c.103C>G (p.Gln35Glu)
c.115C>G (p.Gln39Glu)
c.27+1723C>G (n.27+1723C>G)
c.109C>G (p.Gln37Glu)
c.97C>G (p.Gln33Glu)
c.202C>G (p.Gln68Glu)
c.91C>G (p.Gln31Glu)
11g.72218648C>TCA381743759FOLR2c.64C>T (p.Gln22Ter)
c.103C>T (p.Gln35Ter)
c.115C>T (p.Gln39Ter)
c.27+1723C>T (n.27+1723C>T)
c.109C>T (p.Gln37Ter)
c.97C>T (p.Gln33Ter)
c.202C>T (p.Gln68Ter)
c.91C>T (p.Gln31Ter)
dbSNP gnomAD v3 gnomAD v4
11g.72218649A>CCA381743761FOLR2c.65A>C (p.Gln22Pro)
c.104A>C (p.Gln35Pro)
c.116A>C (p.Gln39Pro)
c.27+1724A>C (n.27+1724A>C)
c.110A>C (p.Gln37Pro)
c.98A>C (p.Gln33Pro)
c.203A>C (p.Gln68Pro)
c.92A>C (p.Gln31Pro)
11g.72218649A>GCA381743765FOLR2c.65A>G (p.Gln22Arg)
c.104A>G (p.Gln35Arg)
c.116A>G (p.Gln39Arg)
c.27+1724A>G (n.27+1724A>G)
c.110A>G (p.Gln37Arg)
c.98A>G (p.Gln33Arg)
c.203A>G (p.Gln68Arg)
c.92A>G (p.Gln31Arg)
11g.72218649A>TCA381743767FOLR2c.65A>T (p.Gln22Leu)
c.104A>T (p.Gln35Leu)
c.116A>T (p.Gln39Leu)
c.27+1724A>T (n.27+1724A>T)
c.110A>T (p.Gln37Leu)
c.98A>T (p.Gln33Leu)
c.203A>T (p.Gln68Leu)
c.92A>T (p.Gln31Leu)
11g.72218650G>ACA475605953FOLR2c.66G>A (p.Gln22=)
c.105G>A (p.Gln35=)
c.117G>A (p.Gln39=)
c.27+1725G>A (n.27+1725G>A)
c.111G>A (p.Gln37=)
c.99G>A (p.Gln33=)
c.204G>A (p.Gln68=)
c.93G>A (p.Gln31=)
dbSNP gnomAD v3 gnomAD v4
11g.72218650G>CCA381743771FOLR2c.66G>C (p.Gln22His)
c.105G>C (p.Gln35His)
c.117G>C (p.Gln39His)
c.27+1725G>C (n.27+1725G>C)
c.111G>C (p.Gln37His)
c.99G>C (p.Gln33His)
c.204G>C (p.Gln68His)
c.93G>C (p.Gln31His)
11g.72218650G=CA1981892159FOLR2c.66G= (p.Gln22=)
c.105G= (p.Gln35=)
c.117G= (p.Gln39=)
c.27+1725G= (n.27+1725G=)
c.111G= (p.Gln37=)
c.99G= (p.Gln33=)
c.204G= (p.Gln68=)
c.93G= (p.Gln31=)
11g.72218650G>TCA381743774FOLR2c.66G>T (p.Gln22His)
c.105G>T (p.Gln35His)
c.117G>T (p.Gln39His)
c.27+1725G>T (n.27+1725G>T)
c.111G>T (p.Gln37His)
c.99G>T (p.Gln33His)
c.204G>T (p.Gln68His)
c.93G>T (p.Gln31His)
11g.72218651G>ACA6169313FOLR2c.67G>A (p.Asp23Asn)
c.106G>A (p.Asp36Asn)
c.118G>A (p.Asp40Asn)
c.27+1726G>A (n.27+1726G>A)
c.112G>A (p.Asp38Asn)
c.100G>A (p.Asp34Asn)
c.205G>A (p.Asp69Asn)
c.94G>A (p.Asp32Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72218651G>CCA381743785FOLR2c.67G>C (p.Asp23His)
c.106G>C (p.Asp36His)
c.118G>C (p.Asp40His)
c.27+1726G>C (n.27+1726G>C)
c.112G>C (p.Asp38His)
c.100G>C (p.Asp34His)
c.205G>C (p.Asp69His)
c.94G>C (p.Asp32His)
11g.72218651G=CA1981892160FOLR2c.67G= (p.Asp23=)
c.106G= (p.Asp36=)
c.118G= (p.Asp40=)
c.27+1726G= (n.27+1726G=)
c.112G= (p.Asp38=)
c.100G= (p.Asp34=)
c.205G= (p.Asp69=)
c.94G= (p.Asp32=)
11g.72218651G>TCA381743784FOLR2c.67G>T (p.Asp23Tyr)
c.106G>T (p.Asp36Tyr)
c.118G>T (p.Asp40Tyr)
c.27+1726G>T (n.27+1726G>T)
c.112G>T (p.Asp38Tyr)
c.100G>T (p.Asp34Tyr)
c.205G>T (p.Asp69Tyr)
c.94G>T (p.Asp32Tyr)
COSMIC
11g.72218652A>CCA381743786FOLR2c.68A>C (p.Asp23Ala)
c.107A>C (p.Asp36Ala)
c.119A>C (p.Asp40Ala)
c.27+1727A>C (n.27+1727A>C)
c.113A>C (p.Asp38Ala)
c.101A>C (p.Asp34Ala)
c.206A>C (p.Asp69Ala)
c.95A>C (p.Asp32Ala)
11g.72218652A>GCA381743787FOLR2c.68A>G (p.Asp23Gly)
c.107A>G (p.Asp36Gly)
c.119A>G (p.Asp40Gly)
c.27+1727A>G (n.27+1727A>G)
c.113A>G (p.Asp38Gly)
c.101A>G (p.Asp34Gly)
c.206A>G (p.Asp69Gly)
c.95A>G (p.Asp32Gly)
11g.72218652A>TCA381743789FOLR2c.68A>T (p.Asp23Val)
c.107A>T (p.Asp36Val)
c.119A>T (p.Asp40Val)
c.27+1727A>T (n.27+1727A>T)
c.113A>T (p.Asp38Val)
c.101A>T (p.Asp34Val)
c.206A>T (p.Asp69Val)
c.95A>T (p.Asp32Val)
11g.72218653C>ACA381743791FOLR2c.69C>A (p.Asp23Glu)
c.108C>A (p.Asp36Glu)
c.120C>A (p.Asp40Glu)
c.27+1728C>A (n.27+1728C>A)
c.114C>A (p.Asp38Glu)
c.102C>A (p.Asp34Glu)
c.207C>A (p.Asp69Glu)
c.96C>A (p.Asp32Glu)
11g.72218653C=CA1981892161FOLR2c.69C= (p.Asp23=)
c.108C= (p.Asp36=)
c.120C= (p.Asp40=)
c.27+1728C= (n.27+1728C=)
c.114C= (p.Asp38=)
c.102C= (p.Asp34=)
c.207C= (p.Asp69=)
c.96C= (p.Asp32=)
11g.72218653C>GCA381743811FOLR2c.69C>G (p.Asp23Glu)
c.108C>G (p.Asp36Glu)
c.120C>G (p.Asp40Glu)
c.27+1728C>G (n.27+1728C>G)
c.114C>G (p.Asp38Glu)
c.102C>G (p.Asp34Glu)
c.207C>G (p.Asp69Glu)
c.96C>G (p.Asp32Glu)
11g.72218653C>TCA475605956FOLR2c.69C>T (p.Asp23=)
c.108C>T (p.Asp36=)
c.120C>T (p.Asp40=)
c.27+1728C>T (n.27+1728C>T)
c.114C>T (p.Asp38=)
c.102C>T (p.Asp34=)
c.207C>T (p.Asp69=)
c.96C>T (p.Asp32=)
dbSNP gnomAD v2 gnomAD v4
11g.72218654A=CA1981892162FOLR2c.70A= (p.Arg24=)
c.109A= (p.Arg37=)
c.121A= (p.Arg41=)
c.27+1729A= (n.27+1729A=)
c.115A= (p.Arg39=)
c.103A= (p.Arg35=)
c.208A= (p.Arg70=)
c.97A= (p.Arg33=)
11g.72218654A>CCA475605957FOLR2c.70A>C (p.Arg24=)
c.109A>C (p.Arg37=)
c.121A>C (p.Arg41=)
c.27+1729A>C (n.27+1729A>C)
c.115A>C (p.Arg39=)
c.103A>C (p.Arg35=)
c.208A>C (p.Arg70=)
c.97A>C (p.Arg33=)
11g.72218654A>GCA381743814FOLR2c.70A>G (p.Arg24Gly)
c.109A>G (p.Arg37Gly)
c.121A>G (p.Arg41Gly)
c.27+1729A>G (n.27+1729A>G)
c.115A>G (p.Arg39Gly)
c.103A>G (p.Arg35Gly)
c.208A>G (p.Arg70Gly)
c.97A>G (p.Arg33Gly)
dbSNP gnomAD v2 gnomAD v4
11g.72218654A>TCA381743815FOLR2c.70A>T (p.Arg24Trp)
c.109A>T (p.Arg37Trp)
c.121A>T (p.Arg41Trp)
c.27+1729A>T (n.27+1729A>T)
c.115A>T (p.Arg39Trp)
c.103A>T (p.Arg35Trp)
c.208A>T (p.Arg70Trp)
c.97A>T (p.Arg33Trp)
COSMIC
11g.72218655G>ACA381743819FOLR2c.71G>A (p.Arg24Lys)
c.110G>A (p.Arg37Lys)
c.122G>A (p.Arg41Lys)
c.27+1730G>A (n.27+1730G>A)
c.116G>A (p.Arg39Lys)
c.104G>A (p.Arg35Lys)
c.209G>A (p.Arg70Lys)
c.98G>A (p.Arg33Lys)
COSMIC
11g.72218655G>CCA381743822FOLR2c.71G>C (p.Arg24Thr)
c.110G>C (p.Arg37Thr)
c.122G>C (p.Arg41Thr)
c.27+1730G>C (n.27+1730G>C)
c.116G>C (p.Arg39Thr)
c.104G>C (p.Arg35Thr)
c.209G>C (p.Arg70Thr)
c.98G>C (p.Arg33Thr)
11g.72218655G>TCA381743823FOLR2c.71G>T (p.Arg24Met)
c.110G>T (p.Arg37Met)
c.122G>T (p.Arg41Met)
c.27+1730G>T (n.27+1730G>T)
c.116G>T (p.Arg39Met)
c.104G>T (p.Arg35Met)
c.209G>T (p.Arg70Met)
c.98G>T (p.Arg33Met)
11g.72218656G>ACA475605959FOLR2c.72G>A (p.Arg24=)
c.111G>A (p.Arg37=)
c.123G>A (p.Arg41=)
c.27+1731G>A (n.27+1731G>A)
c.117G>A (p.Arg39=)
c.105G>A (p.Arg35=)
c.210G>A (p.Arg70=)
c.99G>A (p.Arg33=)
gnomAD v4
11g.72218656G>CCA381743825FOLR2c.72G>C (p.Arg24Ser)
c.111G>C (p.Arg37Ser)
c.123G>C (p.Arg41Ser)
c.27+1731G>C (n.27+1731G>C)
c.117G>C (p.Arg39Ser)
c.105G>C (p.Arg35Ser)
c.210G>C (p.Arg70Ser)
c.99G>C (p.Arg33Ser)
11g.72218656G>TCA381743827FOLR2c.72G>T (p.Arg24Ser)
c.111G>T (p.Arg37Ser)
c.123G>T (p.Arg41Ser)
c.27+1731G>T (n.27+1731G>T)
c.117G>T (p.Arg39Ser)
c.105G>T (p.Arg35Ser)
c.210G>T (p.Arg70Ser)
c.99G>T (p.Arg33Ser)
11g.72218657A>CCA381743830FOLR2c.73A>C (p.Thr25Pro)
c.112A>C (p.Thr38Pro)
c.124A>C (p.Thr42Pro)
c.27+1732A>C (n.27+1732A>C)
c.118A>C (p.Thr40Pro)
c.106A>C (p.Thr36Pro)
c.211A>C (p.Thr71Pro)
c.100A>C (p.Thr34Pro)
11g.72218657A>GCA381743844FOLR2c.73A>G (p.Thr25Ala)
c.112A>G (p.Thr38Ala)
c.124A>G (p.Thr42Ala)
c.27+1732A>G (n.27+1732A>G)
c.118A>G (p.Thr40Ala)
c.106A>G (p.Thr36Ala)
c.211A>G (p.Thr71Ala)
c.100A>G (p.Thr34Ala)
11g.72218657A>TCA381743852FOLR2c.73A>T (p.Thr25Ser)
c.112A>T (p.Thr38Ser)
c.124A>T (p.Thr42Ser)
c.27+1732A>T (n.27+1732A>T)
c.118A>T (p.Thr40Ser)
c.106A>T (p.Thr36Ser)
c.211A>T (p.Thr71Ser)
c.100A>T (p.Thr34Ser)
11g.72218658C>ACA381743857FOLR2c.74C>A (p.Thr25Asn)
c.113C>A (p.Thr38Asn)
c.125C>A (p.Thr42Asn)
c.27+1733C>A (n.27+1733C>A)
c.119C>A (p.Thr40Asn)
c.107C>A (p.Thr36Asn)
c.212C>A (p.Thr71Asn)
c.101C>A (p.Thr34Asn)
11g.72218658C=CA1981892163FOLR2c.74C= (p.Thr25=)
c.113C= (p.Thr38=)
c.125C= (p.Thr42=)
c.27+1733C= (n.27+1733C=)
c.119C= (p.Thr40=)
c.107C= (p.Thr36=)
c.212C= (p.Thr71=)
c.101C= (p.Thr34=)
11g.72218658C>GCA381743860FOLR2c.74C>G (p.Thr25Ser)
c.113C>G (p.Thr38Ser)
c.125C>G (p.Thr42Ser)
c.27+1733C>G (n.27+1733C>G)
c.119C>G (p.Thr40Ser)
c.107C>G (p.Thr36Ser)
c.212C>G (p.Thr71Ser)
c.101C>G (p.Thr34Ser)
11g.72218658C>TCA381743881FOLR2c.74C>T (p.Thr25Ile)
c.113C>T (p.Thr38Ile)
c.125C>T (p.Thr42Ile)
c.27+1733C>T (n.27+1733C>T)
c.119C>T (p.Thr40Ile)
c.107C>T (p.Thr36Ile)
c.212C>T (p.Thr71Ile)
c.101C>T (p.Thr34Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72218659T>ACA475605962FOLR2c.75T>A (p.Thr25=)
c.114T>A (p.Thr38=)
c.126T>A (p.Thr42=)
c.27+1734T>A (n.27+1734T>A)
c.120T>A (p.Thr40=)
c.108T>A (p.Thr36=)
c.213T>A (p.Thr71=)
c.102T>A (p.Thr34=)
11g.72218659T>CCA475605963FOLR2c.75T>C (p.Thr25=)
c.114T>C (p.Thr38=)
c.126T>C (p.Thr42=)
c.27+1734T>C (n.27+1734T>C)
c.120T>C (p.Thr40=)
c.108T>C (p.Thr36=)
c.213T>C (p.Thr71=)
c.102T>C (p.Thr34=)
dbSNP
11g.72218659T>GCA6169314FOLR2c.75T>G (p.Thr25=)
c.114T>G (p.Thr38=)
c.126T>G (p.Thr42=)
c.27+1734T>G (n.27+1734T>G)
c.120T>G (p.Thr40=)
c.108T>G (p.Thr36=)
c.213T>G (p.Thr71=)
c.102T>G (p.Thr34=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72218659T=CA1981892164FOLR2c.75T= (p.Thr25=)
c.114T= (p.Thr38=)
c.126T= (p.Thr42=)
c.27+1734T= (n.27+1734T=)
c.120T= (p.Thr40=)
c.108T= (p.Thr36=)
c.213T= (p.Thr71=)
c.102T= (p.Thr34=)
11g.72218660G>ACA381743889FOLR2c.76G>A (p.Asp26Asn)
c.115G>A (p.Asp39Asn)
c.127G>A (p.Asp43Asn)
c.27+1735G>A (n.27+1735G>A)
c.121G>A (p.Asp41Asn)
c.109G>A (p.Asp37Asn)
c.214G>A (p.Asp72Asn)
c.103G>A (p.Asp35Asn)
11g.72218660G>CCA381743892FOLR2c.76G>C (p.Asp26His)
c.115G>C (p.Asp39His)
c.127G>C (p.Asp43His)
c.27+1735G>C (n.27+1735G>C)
c.121G>C (p.Asp41His)
c.109G>C (p.Asp37His)
c.214G>C (p.Asp72His)
c.103G>C (p.Asp35His)
11g.72218660G>TCA381743894FOLR2c.76G>T (p.Asp26Tyr)
c.115G>T (p.Asp39Tyr)
c.127G>T (p.Asp43Tyr)
c.27+1735G>T (n.27+1735G>T)
c.121G>T (p.Asp41Tyr)
c.109G>T (p.Asp37Tyr)
c.214G>T (p.Asp72Tyr)
c.103G>T (p.Asp35Tyr)
11g.72218661A=CA1981892165FOLR2c.77A= (p.Asp26=)
c.116A= (p.Asp39=)
c.128A= (p.Asp43=)
c.27+1736A= (n.27+1736A=)
c.122A= (p.Asp41=)
c.110A= (p.Asp37=)
c.215A= (p.Asp72=)
c.104A= (p.Asp35=)
11g.72218661A>CCA381743897FOLR2c.77A>C (p.Asp26Ala)
c.116A>C (p.Asp39Ala)
c.128A>C (p.Asp43Ala)
c.27+1736A>C (n.27+1736A>C)
c.122A>C (p.Asp41Ala)
c.110A>C (p.Asp37Ala)
c.215A>C (p.Asp72Ala)
c.104A>C (p.Asp35Ala)
11g.72218661A>GCA6169315FOLR2c.77A>G (p.Asp26Gly)
c.116A>G (p.Asp39Gly)
c.128A>G (p.Asp43Gly)
c.27+1736A>G (n.27+1736A>G)
c.122A>G (p.Asp41Gly)
c.110A>G (p.Asp37Gly)
c.215A>G (p.Asp72Gly)
c.104A>G (p.Asp35Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72218661A>TCA381743906FOLR2c.77A>T (p.Asp26Val)
c.116A>T (p.Asp39Val)
c.128A>T (p.Asp43Val)
c.27+1736A>T (n.27+1736A>T)
c.122A>T (p.Asp41Val)
c.110A>T (p.Asp37Val)
c.215A>T (p.Asp72Val)
c.104A>T (p.Asp35Val)
11g.72218662T>ACA381743911FOLR2c.78T>A (p.Asp26Glu)
c.117T>A (p.Asp39Glu)
c.129T>A (p.Asp43Glu)
c.27+1737T>A (n.27+1737T>A)
c.123T>A (p.Asp41Glu)
c.111T>A (p.Asp37Glu)
c.216T>A (p.Asp72Glu)
c.105T>A (p.Asp35Glu)
11g.72218662T>CCA475605967FOLR2c.78T>C (p.Asp26=)
c.117T>C (p.Asp39=)
c.129T>C (p.Asp43=)
c.27+1737T>C (n.27+1737T>C)
c.123T>C (p.Asp41=)
c.111T>C (p.Asp37=)
c.216T>C (p.Asp72=)
c.105T>C (p.Asp35=)
dbSNP gnomAD v2 gnomAD v4
11g.72218662T>GCA381743913FOLR2c.78T>G (p.Asp26Glu)
c.117T>G (p.Asp39Glu)
c.129T>G (p.Asp43Glu)
c.27+1737T>G (n.27+1737T>G)
c.123T>G (p.Asp41Glu)
c.111T>G (p.Asp37Glu)
c.216T>G (p.Asp72Glu)
c.105T>G (p.Asp35Glu)
11g.72218662T=CA1981892167FOLR2c.78T= (p.Asp26=)
c.117T= (p.Asp39=)
c.129T= (p.Asp43=)
c.27+1737T= (n.27+1737T=)
c.123T= (p.Asp41=)
c.111T= (p.Asp37=)
c.216T= (p.Asp72=)
c.105T= (p.Asp35=)
11g.72218662_72218665delinsTCTCCA1981892166FOLR2c.78_81delinsTCTC (p.Asp26=)
c.117_120delinsTCTC (p.Asp39=)
c.129_132delinsTCTC (p.Asp43=)
c.27+1737_27+1740delinsTCTC (n.27+1737_27+1740delinsTCTC)
c.123_126delinsTCTC (p.Asp41=)
c.111_114delinsTCTC (p.Asp37=)
c.216_219delinsTCTC (p.Asp72=)
c.105_108delinsTCTC (p.Asp35=)
11g.72218663C>ACA381743924FOLR2c.79C>A (p.Leu27Ile)
c.118C>A (p.Leu40Ile)
c.130C>A (p.Leu44Ile)
c.27+1738C>A (n.27+1738C>A)
c.124C>A (p.Leu42Ile)
c.112C>A (p.Leu38Ile)
c.217C>A (p.Leu73Ile)
c.106C>A (p.Leu36Ile)
11g.72218663C>GCA381743936FOLR2c.79C>G (p.Leu27Val)
c.118C>G (p.Leu40Val)
c.130C>G (p.Leu44Val)
c.27+1738C>G (n.27+1738C>G)
c.124C>G (p.Leu42Val)
c.112C>G (p.Leu38Val)
c.217C>G (p.Leu73Val)
c.106C>G (p.Leu36Val)
11g.72218663C>TCA381743941FOLR2c.79C>T (p.Leu27Phe)
c.118C>T (p.Leu40Phe)
c.130C>T (p.Leu44Phe)
c.27+1738C>T (n.27+1738C>T)
c.124C>T (p.Leu42Phe)
c.112C>T (p.Leu38Phe)
c.217C>T (p.Leu73Phe)
c.106C>T (p.Leu36Phe)
11g.72218666_72218668delCA6169316FOLR2c.82_84del (p.Leu28del)
c.121_123del (p.Leu41del)
c.133_135del (p.Leu45del)
c.27+1741_27+1743del (n.27+1741_27+1743del)
c.127_129del (p.Leu43del)
c.115_117del (p.Leu39del)
c.220_222del (p.Leu74del)
c.109_111del (p.Leu37del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72218664T>ACA381743950FOLR2c.80T>A (p.Leu27His)
c.119T>A (p.Leu40His)
c.131T>A (p.Leu44His)
c.27+1739T>A (n.27+1739T>A)
c.125T>A (p.Leu42His)
c.113T>A (p.Leu38His)
c.218T>A (p.Leu73His)
c.107T>A (p.Leu36His)
11g.72218664T>CCA381743953FOLR2c.80T>C (p.Leu27Pro)
c.119T>C (p.Leu40Pro)
c.131T>C (p.Leu44Pro)
c.27+1739T>C (n.27+1739T>C)
c.125T>C (p.Leu42Pro)
c.113T>C (p.Leu38Pro)
c.218T>C (p.Leu73Pro)
c.107T>C (p.Leu36Pro)
gnomAD v4
11g.72218664T>GCA381743959FOLR2c.80T>G (p.Leu27Arg)
c.119T>G (p.Leu40Arg)
c.131T>G (p.Leu44Arg)
c.27+1739T>G (n.27+1739T>G)
c.125T>G (p.Leu42Arg)
c.113T>G (p.Leu38Arg)
c.218T>G (p.Leu73Arg)
c.107T>G (p.Leu36Arg)
11g.72218665C>ACA475605969FOLR2c.81C>A (p.Leu27=)
c.120C>A (p.Leu40=)
c.132C>A (p.Leu44=)
c.27+1740C>A (n.27+1740C>A)
c.126C>A (p.Leu42=)
c.114C>A (p.Leu38=)
c.219C>A (p.Leu73=)
c.108C>A (p.Leu36=)
11g.72218665C>GCA475605970FOLR2c.81C>G (p.Leu27=)
c.120C>G (p.Leu40=)
c.132C>G (p.Leu44=)
c.27+1740C>G (n.27+1740C>G)
c.126C>G (p.Leu42=)
c.114C>G (p.Leu38=)
c.219C>G (p.Leu73=)
c.108C>G (p.Leu36=)
11g.72218665C>TCA475605971FOLR2c.81C>T (p.Leu27=)
c.120C>T (p.Leu40=)
c.132C>T (p.Leu44=)
c.27+1740C>T (n.27+1740C>T)
c.126C>T (p.Leu42=)
c.114C>T (p.Leu38=)
c.219C>T (p.Leu73=)
c.108C>T (p.Leu36=)
11g.72218666C>ACA381743964FOLR2c.82C>A (p.Leu28Ile)
c.121C>A (p.Leu41Ile)
c.133C>A (p.Leu45Ile)
c.27+1741C>A (n.27+1741C>A)
c.127C>A (p.Leu43Ile)
c.115C>A (p.Leu39Ile)
c.220C>A (p.Leu74Ile)
c.109C>A (p.Leu37Ile)
11g.72218666C=CA1981892168FOLR2c.82C= (p.Leu28=)
c.121C= (p.Leu41=)
c.133C= (p.Leu45=)
c.27+1741C= (n.27+1741C=)
c.127C= (p.Leu43=)
c.115C= (p.Leu39=)
c.220C= (p.Leu74=)
c.109C= (p.Leu37=)
11g.72218666C>GCA381743970FOLR2c.82C>G (p.Leu28Val)
c.121C>G (p.Leu41Val)
c.133C>G (p.Leu45Val)
c.27+1741C>G (n.27+1741C>G)
c.127C>G (p.Leu43Val)
c.115C>G (p.Leu39Val)
c.220C>G (p.Leu74Val)
c.109C>G (p.Leu37Val)
11g.72218666C>TCA6169317FOLR2c.82C>T (p.Leu28Phe)
c.121C>T (p.Leu41Phe)
c.133C>T (p.Leu45Phe)
c.27+1741C>T (n.27+1741C>T)
c.127C>T (p.Leu43Phe)
c.115C>T (p.Leu39Phe)
c.220C>T (p.Leu74Phe)
c.109C>T (p.Leu37Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72218667T>ACA381743985FOLR2c.83T>A (p.Leu28His)
c.122T>A (p.Leu41His)
c.134T>A (p.Leu45His)
c.27+1742T>A (n.27+1742T>A)
c.128T>A (p.Leu43His)
c.116T>A (p.Leu39His)
c.221T>A (p.Leu74His)
c.110T>A (p.Leu37His)
11g.72218667T>CCA381743988FOLR2c.83T>C (p.Leu28Pro)
c.122T>C (p.Leu41Pro)
c.134T>C (p.Leu45Pro)
c.27+1742T>C (n.27+1742T>C)
c.128T>C (p.Leu43Pro)
c.116T>C (p.Leu39Pro)
c.221T>C (p.Leu74Pro)
c.110T>C (p.Leu37Pro)
11g.72218667T>GCA381743982FOLR2c.83T>G (p.Leu28Arg)
c.122T>G (p.Leu41Arg)
c.134T>G (p.Leu45Arg)
c.27+1742T>G (n.27+1742T>G)
c.128T>G (p.Leu43Arg)
c.116T>G (p.Leu39Arg)
c.221T>G (p.Leu74Arg)
c.110T>G (p.Leu37Arg)
11g.72218668C>ACA475605975FOLR2c.84C>A (p.Leu28=)
c.123C>A (p.Leu41=)
c.135C>A (p.Leu45=)
c.27+1743C>A (n.27+1743C>A)
c.129C>A (p.Leu43=)
c.117C>A (p.Leu39=)
c.222C>A (p.Leu74=)
c.111C>A (p.Leu37=)
11g.72218668C=CA1981892169FOLR2c.84C= (p.Leu28=)
c.123C= (p.Leu41=)
c.135C= (p.Leu45=)
c.27+1743C= (n.27+1743C=)
c.129C= (p.Leu43=)
c.117C= (p.Leu39=)
c.222C= (p.Leu74=)
c.111C= (p.Leu37=)
11g.72218668C>GCA475605976FOLR2c.84C>G (p.Leu28=)
c.123C>G (p.Leu41=)
c.135C>G (p.Leu45=)
c.27+1743C>G (n.27+1743C>G)
c.129C>G (p.Leu43=)
c.117C>G (p.Leu39=)
c.222C>G (p.Leu74=)
c.111C>G (p.Leu37=)
11g.72218668C>TCA6169318FOLR2c.84C>T (p.Leu28=)
c.123C>T (p.Leu41=)
c.135C>T (p.Leu45=)
c.27+1743C>T (n.27+1743C>T)
c.129C>T (p.Leu43=)
c.117C>T (p.Leu39=)
c.222C>T (p.Leu74=)
c.111C>T (p.Leu37=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72218669A>CCA381743997FOLR2c.85A>C (p.Asn29His)
c.124A>C (p.Asn42His)
c.136A>C (p.Asn46His)
c.27+1744A>C (n.27+1744A>C)
c.130A>C (p.Asn44His)
c.118A>C (p.Asn40His)
c.223A>C (p.Asn75His)
c.112A>C (p.Asn38His)
11g.72218669A>GCA381744000FOLR2c.85A>G (p.Asn29Asp)
c.124A>G (p.Asn42Asp)
c.136A>G (p.Asn46Asp)
c.27+1744A>G (n.27+1744A>G)
c.130A>G (p.Asn44Asp)
c.118A>G (p.Asn40Asp)
c.223A>G (p.Asn75Asp)
c.112A>G (p.Asn38Asp)
11g.72218669A>TCA381744003FOLR2c.85A>T (p.Asn29Tyr)
c.124A>T (p.Asn42Tyr)
c.136A>T (p.Asn46Tyr)
c.27+1744A>T (n.27+1744A>T)
c.130A>T (p.Asn44Tyr)
c.118A>T (p.Asn40Tyr)
c.223A>T (p.Asn75Tyr)
c.112A>T (p.Asn38Tyr)
11g.72218670A>CCA381744011FOLR2c.86A>C (p.Asn29Thr)
c.125A>C (p.Asn42Thr)
c.137A>C (p.Asn46Thr)
c.27+1745A>C (n.27+1745A>C)
c.131A>C (p.Asn44Thr)
c.119A>C (p.Asn40Thr)
c.224A>C (p.Asn75Thr)
c.113A>C (p.Asn38Thr)
11g.72218670A>GCA381744013FOLR2c.86A>G (p.Asn29Ser)
c.125A>G (p.Asn42Ser)
c.137A>G (p.Asn46Ser)
c.27+1745A>G (n.27+1745A>G)
c.131A>G (p.Asn44Ser)
c.119A>G (p.Asn40Ser)
c.224A>G (p.Asn75Ser)
c.113A>G (p.Asn38Ser)
11g.72218670A>TCA381744018FOLR2c.86A>T (p.Asn29Ile)
c.125A>T (p.Asn42Ile)
c.137A>T (p.Asn46Ile)
c.27+1745A>T (n.27+1745A>T)
c.131A>T (p.Asn44Ile)
c.119A>T (p.Asn40Ile)
c.224A>T (p.Asn75Ile)
c.113A>T (p.Asn38Ile)
11g.72218671T>ACA381744022FOLR2c.87T>A (p.Asn29Lys)
c.126T>A (p.Asn42Lys)
c.138T>A (p.Asn46Lys)
c.27+1746T>A (n.27+1746T>A)
c.132T>A (p.Asn44Lys)
c.120T>A (p.Asn40Lys)
c.225T>A (p.Asn75Lys)
c.114T>A (p.Asn38Lys)
11g.72218671T>CCA475605978FOLR2c.87T>C (p.Asn29=)
c.126T>C (p.Asn42=)
c.138T>C (p.Asn46=)
c.27+1746T>C (n.27+1746T>C)
c.132T>C (p.Asn44=)
c.120T>C (p.Asn40=)
c.225T>C (p.Asn75=)
c.114T>C (p.Asn38=)
11g.72218671T>GCA381744025FOLR2c.87T>G (p.Asn29Lys)
c.126T>G (p.Asn42Lys)
c.138T>G (p.Asn46Lys)
c.27+1746T>G (n.27+1746T>G)
c.132T>G (p.Asn44Lys)
c.120T>G (p.Asn40Lys)
c.225T>G (p.Asn75Lys)
c.114T>G (p.Asn38Lys)
11g.72218672G>ACA381744029FOLR2c.88G>A (p.Val30Ile)
c.127G>A (p.Val43Ile)
c.139G>A (p.Val47Ile)
c.27+1747G>A (n.27+1747G>A)
c.133G>A (p.Val45Ile)
c.121G>A (p.Val41Ile)
c.226G>A (p.Val76Ile)
c.115G>A (p.Val39Ile)
11g.72218672G>CCA381744033FOLR2c.88G>C (p.Val30Leu)
c.127G>C (p.Val43Leu)
c.139G>C (p.Val47Leu)
c.27+1747G>C (n.27+1747G>C)
c.133G>C (p.Val45Leu)
c.121G>C (p.Val41Leu)
c.226G>C (p.Val76Leu)
c.115G>C (p.Val39Leu)
11g.72218672G>TCA381744036FOLR2c.88G>T (p.Val30Phe)
c.127G>T (p.Val43Phe)
c.139G>T (p.Val47Phe)
c.27+1747G>T (n.27+1747G>T)
c.133G>T (p.Val45Phe)
c.121G>T (p.Val41Phe)
c.226G>T (p.Val76Phe)
c.115G>T (p.Val39Phe)
11g.72218673T>ACA381744039FOLR2c.89T>A (p.Val30Asp)
c.128T>A (p.Val43Asp)
c.140T>A (p.Val47Asp)
c.27+1748T>A (n.27+1748T>A)
c.134T>A (p.Val45Asp)
c.122T>A (p.Val41Asp)
c.227T>A (p.Val76Asp)
c.116T>A (p.Val39Asp)
11g.72218673T>CCA381744038FOLR2c.89T>C (p.Val30Ala)
c.128T>C (p.Val43Ala)
c.140T>C (p.Val47Ala)
c.27+1748T>C (n.27+1748T>C)
c.134T>C (p.Val45Ala)
c.122T>C (p.Val41Ala)
c.227T>C (p.Val76Ala)
c.116T>C (p.Val39Ala)
11g.72218673T>GCA381744037FOLR2c.89T>G (p.Val30Gly)
c.128T>G (p.Val43Gly)
c.140T>G (p.Val47Gly)
c.27+1748T>G (n.27+1748T>G)
c.134T>G (p.Val45Gly)
c.122T>G (p.Val41Gly)
c.227T>G (p.Val76Gly)
c.116T>G (p.Val39Gly)
11g.72218674C>ACA475605980FOLR2c.90C>A (p.Val30=)
c.129C>A (p.Val43=)
c.141C>A (p.Val47=)
c.27+1749C>A (n.27+1749C>A)
c.135C>A (p.Val45=)
c.123C>A (p.Val41=)
c.228C>A (p.Val76=)
c.117C>A (p.Val39=)
11g.72218674C=CA1981892170FOLR2c.90C= (p.Val30=)
c.129C= (p.Val43=)
c.141C= (p.Val47=)
c.27+1749C= (n.27+1749C=)
c.135C= (p.Val45=)
c.123C= (p.Val41=)
c.228C= (p.Val76=)
c.117C= (p.Val39=)
11g.72218674C>GCA475605981FOLR2c.90C>G (p.Val30=)
c.129C>G (p.Val43=)
c.141C>G (p.Val47=)
c.27+1749C>G (n.27+1749C>G)
c.135C>G (p.Val45=)
c.123C>G (p.Val41=)
c.228C>G (p.Val76=)
c.117C>G (p.Val39=)
11g.72218674C>TCA475605982FOLR2c.90C>T (p.Val30=)
c.129C>T (p.Val43=)
c.141C>T (p.Val47=)
c.27+1749C>T (n.27+1749C>T)
c.135C>T (p.Val45=)
c.123C>T (p.Val41=)
c.228C>T (p.Val76=)
c.117C>T (p.Val39=)
dbSNP gnomAD v2
11g.72218675T>ACA381744043FOLR2c.91T>A (p.Cys31Ser)
c.130T>A (p.Cys44Ser)
c.142T>A (p.Cys48Ser)
c.27+1750T>A (n.27+1750T>A)
c.136T>A (p.Cys46Ser)
c.124T>A (p.Cys42Ser)
c.229T>A (p.Cys77Ser)
c.118T>A (p.Cys40Ser)
11g.72218675T>CCA381744045FOLR2c.91T>C (p.Cys31Arg)
c.130T>C (p.Cys44Arg)
c.142T>C (p.Cys48Arg)
c.27+1750T>C (n.27+1750T>C)
c.136T>C (p.Cys46Arg)
c.124T>C (p.Cys42Arg)
c.229T>C (p.Cys77Arg)
c.118T>C (p.Cys40Arg)
11g.72218675T>GCA381744050FOLR2c.91T>G (p.Cys31Gly)
c.130T>G (p.Cys44Gly)
c.142T>G (p.Cys48Gly)
c.27+1750T>G (n.27+1750T>G)
c.136T>G (p.Cys46Gly)
c.124T>G (p.Cys42Gly)
c.229T>G (p.Cys77Gly)
c.118T>G (p.Cys40Gly)
gnomAD v4
11g.72218676G>ACA6169320FOLR2c.92G>A (p.Cys31Tyr)
c.131G>A (p.Cys44Tyr)
c.143G>A (p.Cys48Tyr)
c.27+1751G>A (n.27+1751G>A)
c.137G>A (p.Cys46Tyr)
c.125G>A (p.Cys42Tyr)
c.230G>A (p.Cys77Tyr)
c.119G>A (p.Cys40Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72218676G>CCA6169319FOLR2c.92G>C (p.Cys31Ser)
c.131G>C (p.Cys44Ser)
c.143G>C (p.Cys48Ser)
c.27+1751G>C (n.27+1751G>C)
c.137G>C (p.Cys46Ser)
c.125G>C (p.Cys42Ser)
c.230G>C (p.Cys77Ser)
c.119G>C (p.Cys40Ser)
dbSNP ExAC gnomAD v2
11g.72218676G=CA1981892171FOLR2c.92G= (p.Cys31=)
c.131G= (p.Cys44=)
c.143G= (p.Cys48=)
c.27+1751G= (n.27+1751G=)
c.137G= (p.Cys46=)
c.125G= (p.Cys42=)
c.230G= (p.Cys77=)
c.119G= (p.Cys40=)
11g.72218676G>TCA381744071FOLR2c.92G>T (p.Cys31Phe)
c.131G>T (p.Cys44Phe)
c.143G>T (p.Cys48Phe)
c.27+1751G>T (n.27+1751G>T)
c.137G>T (p.Cys46Phe)
c.125G>T (p.Cys42Phe)
c.230G>T (p.Cys77Phe)
c.119G>T (p.Cys40Phe)
11g.72218677T>ACA381744072FOLR2c.93T>A (p.Cys31Ter)
c.132T>A (p.Cys44Ter)
c.144T>A (p.Cys48Ter)
c.27+1752T>A (n.27+1752T>A)
c.138T>A (p.Cys46Ter)
c.126T>A (p.Cys42Ter)
c.231T>A (p.Cys77Ter)
c.120T>A (p.Cys40Ter)
11g.72218677T>CCA475605984FOLR2c.93T>C (p.Cys31=)
c.132T>C (p.Cys44=)
c.144T>C (p.Cys48=)
c.27+1752T>C (n.27+1752T>C)
c.138T>C (p.Cys46=)
c.126T>C (p.Cys42=)
c.231T>C (p.Cys77=)
c.120T>C (p.Cys40=)
11g.72218677T>GCA381744073FOLR2c.93T>G (p.Cys31Trp)
c.132T>G (p.Cys44Trp)
c.144T>G (p.Cys48Trp)
c.27+1752T>G (n.27+1752T>G)
c.138T>G (p.Cys46Trp)
c.126T>G (p.Cys42Trp)
c.231T>G (p.Cys77Trp)
c.120T>G (p.Cys40Trp)
11g.72218677_72218680delinsTATGCA1981892172FOLR2c.93_96delinsTATG (p.Cys31=)
c.132_135delinsTATG (p.Cys44=)
c.144_147delinsTATG (p.Cys48=)
c.27+1752_27+1755delinsTATG (n.27+1752_27+1755delinsTATG)
c.138_141delinsTATG (p.Cys46=)
c.126_129delinsTATG (p.Cys42=)
c.231_234delinsTATG (p.Cys77=)
c.120_123delinsTATG (p.Cys40=)
11g.72218678A>CCA381744077FOLR2c.94A>C (p.Met32Leu)
c.133A>C (p.Met45Leu)
c.145A>C (p.Met49Leu)
c.27+1753A>C (n.27+1753A>C)
c.139A>C (p.Met47Leu)
c.127A>C (p.Met43Leu)
c.232A>C (p.Met78Leu)
c.121A>C (p.Met41Leu)
11g.72218678A>GCA381744079FOLR2c.94A>G (p.Met32Val)
c.133A>G (p.Met45Val)
c.145A>G (p.Met49Val)
c.27+1753A>G (n.27+1753A>G)
c.139A>G (p.Met47Val)
c.127A>G (p.Met43Val)
c.232A>G (p.Met78Val)
c.121A>G (p.Met41Val)
11g.72218678A>TCA381744082FOLR2c.94A>T (p.Met32Leu)
c.133A>T (p.Met45Leu)
c.145A>T (p.Met49Leu)
c.27+1753A>T (n.27+1753A>T)
c.139A>T (p.Met47Leu)
c.127A>T (p.Met43Leu)
c.232A>T (p.Met78Leu)
c.121A>T (p.Met41Leu)
11g.72218678_72218680delCA679986222FOLR2c.94_96del (p.Met32del)
c.133_135del (p.Met45del)
c.145_147del (p.Met49del)
c.27+1753_27+1755del (n.27+1753_27+1755del)
c.139_141del (p.Met47del)
c.127_129del (p.Met43del)
c.232_234del (p.Met78del)
c.121_123del (p.Met41del)
dbSNP
11g.72218679T>ACA381744087FOLR2c.95T>A (p.Met32Lys)
c.134T>A (p.Met45Lys)
c.146T>A (p.Met49Lys)
c.27+1754T>A (n.27+1754T>A)
c.140T>A (p.Met47Lys)
c.128T>A (p.Met43Lys)
c.233T>A (p.Met78Lys)
c.122T>A (p.Met41Lys)
gnomAD v4
11g.72218679T>CCA381744091FOLR2c.95T>C (p.Met32Thr)
c.134T>C (p.Met45Thr)
c.146T>C (p.Met49Thr)
c.27+1754T>C (n.27+1754T>C)
c.140T>C (p.Met47Thr)
c.128T>C (p.Met43Thr)
c.233T>C (p.Met78Thr)
c.122T>C (p.Met41Thr)
11g.72218679T>GCA381744093FOLR2c.95T>G (p.Met32Arg)
c.134T>G (p.Met45Arg)
c.146T>G (p.Met49Arg)
c.27+1754T>G (n.27+1754T>G)
c.140T>G (p.Met47Arg)
c.128T>G (p.Met43Arg)
c.233T>G (p.Met78Arg)
c.122T>G (p.Met41Arg)
11g.72218680G>ACA381744103FOLR2c.96G>A (p.Met32Ile)
c.135G>A (p.Met45Ile)
c.147G>A (p.Met49Ile)
c.27+1755G>A (n.27+1755G>A)
c.141G>A (p.Met47Ile)
c.129G>A (p.Met43Ile)
c.234G>A (p.Met78Ile)
c.123G>A (p.Met41Ile)
11g.72218680G>CCA381744108FOLR2c.96G>C (p.Met32Ile)
c.135G>C (p.Met45Ile)
c.147G>C (p.Met49Ile)
c.27+1755G>C (n.27+1755G>C)
c.141G>C (p.Met47Ile)
c.129G>C (p.Met43Ile)
c.234G>C (p.Met78Ile)
c.123G>C (p.Met41Ile)
11g.72218680G>TCA381744099FOLR2c.96G>T (p.Met32Ile)
c.135G>T (p.Met45Ile)
c.147G>T (p.Met49Ile)
c.27+1755G>T (n.27+1755G>T)
c.141G>T (p.Met47Ile)
c.129G>T (p.Met43Ile)
c.234G>T (p.Met78Ile)
c.123G>T (p.Met41Ile)
11g.72218681G>ACA381744117FOLR2c.97G>A (p.Asp33Asn)
c.136G>A (p.Asp46Asn)
c.148G>A (p.Asp50Asn)
c.27+1756G>A (n.27+1756G>A)
c.142G>A (p.Asp48Asn)
c.130G>A (p.Asp44Asn)
c.235G>A (p.Asp79Asn)
c.124G>A (p.Asp42Asn)
11g.72218681G>CCA381744120FOLR2c.97G>C (p.Asp33His)
c.136G>C (p.Asp46His)
c.148G>C (p.Asp50His)
c.27+1756G>C (n.27+1756G>C)
c.142G>C (p.Asp48His)
c.130G>C (p.Asp44His)
c.235G>C (p.Asp79His)
c.124G>C (p.Asp42His)
11g.72218681G=CA1981892173FOLR2c.97G= (p.Asp33=)
c.136G= (p.Asp46=)
c.148G= (p.Asp50=)
c.27+1756G= (n.27+1756G=)
c.142G= (p.Asp48=)
c.130G= (p.Asp44=)
c.235G= (p.Asp79=)
c.124G= (p.Asp42=)
11g.72218681G>TCA381744124FOLR2c.97G>T (p.Asp33Tyr)
c.136G>T (p.Asp46Tyr)
c.148G>T (p.Asp50Tyr)
c.27+1756G>T (n.27+1756G>T)
c.142G>T (p.Asp48Tyr)
c.130G>T (p.Asp44Tyr)
c.235G>T (p.Asp79Tyr)
c.124G>T (p.Asp42Tyr)
dbSNP gnomAD v2 gnomAD v4
11g.72218682A=CA1981892174FOLR2c.98A= (p.Asp33=)
c.137A= (p.Asp46=)
c.149A= (p.Asp50=)
c.27+1757A= (n.27+1757A=)
c.143A= (p.Asp48=)
c.131A= (p.Asp44=)
c.236A= (p.Asp79=)
c.125A= (p.Asp42=)
11g.72218682A>CCA381744129FOLR2c.98A>C (p.Asp33Ala)
c.137A>C (p.Asp46Ala)
c.149A>C (p.Asp50Ala)
c.27+1757A>C (n.27+1757A>C)
c.143A>C (p.Asp48Ala)
c.131A>C (p.Asp44Ala)
c.236A>C (p.Asp79Ala)
c.125A>C (p.Asp42Ala)
11g.72218682A>GCA381744139FOLR2c.98A>G (p.Asp33Gly)
c.137A>G (p.Asp46Gly)
c.149A>G (p.Asp50Gly)
c.27+1757A>G (n.27+1757A>G)
c.143A>G (p.Asp48Gly)
c.131A>G (p.Asp44Gly)
c.236A>G (p.Asp79Gly)
c.125A>G (p.Asp42Gly)
11g.72218682A>TCA381744155FOLR2c.98A>T (p.Asp33Val)
c.137A>T (p.Asp46Val)
c.149A>T (p.Asp50Val)
c.27+1757A>T (n.27+1757A>T)
c.143A>T (p.Asp48Val)
c.131A>T (p.Asp44Val)
c.236A>T (p.Asp79Val)
c.125A>T (p.Asp42Val)
dbSNP gnomAD v4
11g.72218683T>ACA381744163FOLR2c.99T>A (p.Asp33Glu)
c.138T>A (p.Asp46Glu)
c.150T>A (p.Asp50Glu)
c.27+1758T>A (n.27+1758T>A)
c.144T>A (p.Asp48Glu)
c.132T>A (p.Asp44Glu)
c.237T>A (p.Asp79Glu)
c.126T>A (p.Asp42Glu)
11g.72218683T>CCA475605990FOLR2c.99T>C (p.Asp33=)
c.138T>C (p.Asp46=)
c.150T>C (p.Asp50=)
c.27+1758T>C (n.27+1758T>C)
c.144T>C (p.Asp48=)
c.132T>C (p.Asp44=)
c.237T>C (p.Asp79=)
c.126T>C (p.Asp42=)
11g.72218683T>GCA381744160FOLR2c.99T>G (p.Asp33Glu)
c.138T>G (p.Asp46Glu)
c.150T>G (p.Asp50Glu)
c.27+1758T>G (n.27+1758T>G)
c.144T>G (p.Asp48Glu)
c.132T>G (p.Asp44Glu)
c.237T>G (p.Asp79Glu)
c.126T>G (p.Asp42Glu)
11g.72218684G>ACA381744168FOLR2c.100G>A (p.Ala34Thr)
c.139G>A (p.Ala47Thr)
c.151G>A (p.Ala51Thr)
c.27+1759G>A (n.27+1759G>A)
c.145G>A (p.Ala49Thr)
c.133G>A (p.Ala45Thr)
c.238G>A (p.Ala80Thr)
c.127G>A (p.Ala43Thr)
11g.72218684G>CCA381744171FOLR2c.100G>C (p.Ala34Pro)
c.139G>C (p.Ala47Pro)
c.151G>C (p.Ala51Pro)
c.27+1759G>C (n.27+1759G>C)
c.145G>C (p.Ala49Pro)
c.133G>C (p.Ala45Pro)
c.238G>C (p.Ala80Pro)
c.127G>C (p.Ala43Pro)
11g.72218684G>TCA381744173FOLR2c.100G>T (p.Ala34Ser)
c.139G>T (p.Ala47Ser)
c.151G>T (p.Ala51Ser)
c.27+1759G>T (n.27+1759G>T)
c.145G>T (p.Ala49Ser)
c.133G>T (p.Ala45Ser)
c.238G>T (p.Ala80Ser)
c.127G>T (p.Ala43Ser)
11g.72218685C>ACA381744178FOLR2c.101C>A (p.Ala34Asp)
c.140C>A (p.Ala47Asp)
c.152C>A (p.Ala51Asp)
c.27+1760C>A (n.27+1760C>A)
c.146C>A (p.Ala49Asp)
c.134C>A (p.Ala45Asp)
c.239C>A (p.Ala80Asp)
c.128C>A (p.Ala43Asp)
11g.72218685C>GCA381744180FOLR2c.101C>G (p.Ala34Gly)
c.140C>G (p.Ala47Gly)
c.152C>G (p.Ala51Gly)
c.27+1760C>G (n.27+1760C>G)
c.146C>G (p.Ala49Gly)
c.134C>G (p.Ala45Gly)
c.239C>G (p.Ala80Gly)
c.128C>G (p.Ala43Gly)
11g.72218685C>TCA381744182FOLR2c.101C>T (p.Ala34Val)
c.140C>T (p.Ala47Val)
c.152C>T (p.Ala51Val)
c.27+1760C>T (n.27+1760C>T)
c.146C>T (p.Ala49Val)
c.134C>T (p.Ala45Val)
c.239C>T (p.Ala80Val)
c.128C>T (p.Ala43Val)
gnomAD v4 COSMIC
11g.72218686C>ACA475605992FOLR2c.102C>A (p.Ala34=)
c.141C>A (p.Ala47=)
c.153C>A (p.Ala51=)
c.27+1761C>A (n.27+1761C>A)
c.147C>A (p.Ala49=)
c.135C>A (p.Ala45=)
c.240C>A (p.Ala80=)
c.129C>A (p.Ala43=)
COSMIC
11g.72218686C>GCA475605993FOLR2c.102C>G (p.Ala34=)
c.141C>G (p.Ala47=)
c.153C>G (p.Ala51=)
c.27+1761C>G (n.27+1761C>G)
c.147C>G (p.Ala49=)
c.135C>G (p.Ala45=)
c.240C>G (p.Ala80=)
c.129C>G (p.Ala43=)
11g.72218686C>TCA475605994FOLR2c.102C>T (p.Ala34=)
c.141C>T (p.Ala47=)
c.153C>T (p.Ala51=)
c.27+1761C>T (n.27+1761C>T)
c.147C>T (p.Ala49=)
c.135C>T (p.Ala45=)
c.240C>T (p.Ala80=)
c.129C>T (p.Ala43=)
11g.72218687A=CA1981892175FOLR2c.103A= (p.Lys35=)
c.142A= (p.Lys48=)
c.154A= (p.Lys52=)
c.27+1762A= (n.27+1762A=)
c.148A= (p.Lys50=)
c.136A= (p.Lys46=)
c.241A= (p.Lys81=)
c.130A= (p.Lys44=)
11g.72218687A>CCA381744188FOLR2c.103A>C (p.Lys35Gln)
c.142A>C (p.Lys48Gln)
c.154A>C (p.Lys52Gln)
c.27+1762A>C (n.27+1762A>C)
c.148A>C (p.Lys50Gln)
c.136A>C (p.Lys46Gln)
c.241A>C (p.Lys81Gln)
c.130A>C (p.Lys44Gln)
11g.72218687A>GCA224424607FOLR2c.103A>G (p.Lys35Glu)
c.142A>G (p.Lys48Glu)
c.154A>G (p.Lys52Glu)
c.27+1762A>G (n.27+1762A>G)
c.148A>G (p.Lys50Glu)
c.136A>G (p.Lys46Glu)
c.241A>G (p.Lys81Glu)
c.130A>G (p.Lys44Glu)
dbSNP
11g.72218687A>TCA381744194FOLR2c.103A>T (p.Lys35Ter)
c.142A>T (p.Lys48Ter)
c.154A>T (p.Lys52Ter)
c.27+1762A>T (n.27+1762A>T)
c.148A>T (p.Lys50Ter)
c.136A>T (p.Lys46Ter)
c.241A>T (p.Lys81Ter)
c.130A>T (p.Lys44Ter)
11g.72218688A=CA1981892176FOLR2c.104A= (p.Lys35=)
c.143A= (p.Lys48=)
c.155A= (p.Lys52=)
c.27+1763A= (n.27+1763A=)
c.149A= (p.Lys50=)
c.137A= (p.Lys46=)
c.242A= (p.Lys81=)
c.131A= (p.Lys44=)
11g.72218688A>CCA381744205FOLR2c.104A>C (p.Lys35Thr)
c.143A>C (p.Lys48Thr)
c.155A>C (p.Lys52Thr)
c.27+1763A>C (n.27+1763A>C)
c.149A>C (p.Lys50Thr)
c.137A>C (p.Lys46Thr)
c.242A>C (p.Lys81Thr)
c.131A>C (p.Lys44Thr)
11g.72218688A>GCA381744208FOLR2c.104A>G (p.Lys35Arg)
c.143A>G (p.Lys48Arg)
c.155A>G (p.Lys52Arg)
c.27+1763A>G (n.27+1763A>G)
c.149A>G (p.Lys50Arg)
c.137A>G (p.Lys46Arg)
c.242A>G (p.Lys81Arg)
c.131A>G (p.Lys44Arg)
11g.72218688A>TCA381744211FOLR2c.104A>T (p.Lys35Met)
c.143A>T (p.Lys48Met)
c.155A>T (p.Lys52Met)
c.27+1763A>T (n.27+1763A>T)
c.149A>T (p.Lys50Met)
c.137A>T (p.Lys46Met)
c.242A>T (p.Lys81Met)
c.131A>T (p.Lys44Met)
dbSNP gnomAD v2
11g.72218689G>ACA475605996FOLR2c.105G>A (p.Lys35=)
c.144G>A (p.Lys48=)
c.156G>A (p.Lys52=)
c.27+1764G>A (n.27+1764G>A)
c.150G>A (p.Lys50=)
c.138G>A (p.Lys46=)
c.243G>A (p.Lys81=)
c.132G>A (p.Lys44=)
dbSNP gnomAD v2 gnomAD v4
11g.72218689G>CCA381744214FOLR2c.105G>C (p.Lys35Asn)
c.144G>C (p.Lys48Asn)
c.156G>C (p.Lys52Asn)
c.27+1764G>C (n.27+1764G>C)
c.150G>C (p.Lys50Asn)
c.138G>C (p.Lys46Asn)
c.243G>C (p.Lys81Asn)
c.132G>C (p.Lys44Asn)
11g.72218689G=CA1981892177FOLR2c.105G= (p.Lys35=)
c.144G= (p.Lys48=)
c.156G= (p.Lys52=)
c.27+1764G= (n.27+1764G=)
c.150G= (p.Lys50=)
c.138G= (p.Lys46=)
c.243G= (p.Lys81=)
c.132G= (p.Lys44=)
11g.72218689G>TCA381744217FOLR2c.105G>T (p.Lys35Asn)
c.144G>T (p.Lys48Asn)
c.156G>T (p.Lys52Asn)
c.27+1764G>T (n.27+1764G>T)
c.150G>T (p.Lys50Asn)
c.138G>T (p.Lys46Asn)
c.243G>T (p.Lys81Asn)
c.132G>T (p.Lys44Asn)
11g.72218690C>ACA381744223FOLR2c.106C>A (p.His36Asn)
c.145C>A (p.His49Asn)
c.157C>A (p.His53Asn)
c.27+1765C>A (n.27+1765C>A)
c.151C>A (p.His51Asn)
c.139C>A (p.His47Asn)
c.244C>A (p.His82Asn)
c.133C>A (p.His45Asn)
dbSNP gnomAD v2 gnomAD v4
11g.72218690C=CA1981892178FOLR2c.106C= (p.His36=)
c.145C= (p.His49=)
c.157C= (p.His53=)
c.27+1765C= (n.27+1765C=)
c.151C= (p.His51=)
c.139C= (p.His47=)
c.244C= (p.His82=)
c.133C= (p.His45=)
11g.72218690C>GCA381744226FOLR2c.106C>G (p.His36Asp)
c.145C>G (p.His49Asp)
c.157C>G (p.His53Asp)
c.27+1765C>G (n.27+1765C>G)
c.151C>G (p.His51Asp)
c.139C>G (p.His47Asp)
c.244C>G (p.His82Asp)
c.133C>G (p.His45Asp)
gnomAD v4
11g.72218690C>TCA381744230FOLR2c.106C>T (p.His36Tyr)
c.145C>T (p.His49Tyr)
c.157C>T (p.His53Tyr)
c.27+1765C>T (n.27+1765C>T)
c.151C>T (p.His51Tyr)
c.139C>T (p.His47Tyr)
c.244C>T (p.His82Tyr)
c.133C>T (p.His45Tyr)
11g.72218691A>CCA381744233FOLR2c.107A>C (p.His36Pro)
c.146A>C (p.His49Pro)
c.158A>C (p.His53Pro)
c.27+1766A>C (n.27+1766A>C)
c.152A>C (p.His51Pro)
c.140A>C (p.His47Pro)
c.245A>C (p.His82Pro)
c.134A>C (p.His45Pro)
11g.72218691A>GCA381744234FOLR2c.107A>G (p.His36Arg)
c.146A>G (p.His49Arg)
c.158A>G (p.His53Arg)
c.27+1766A>G (n.27+1766A>G)
c.152A>G (p.His51Arg)
c.140A>G (p.His47Arg)
c.245A>G (p.His82Arg)
c.134A>G (p.His45Arg)
11g.72218691A>TCA381744241FOLR2c.107A>T (p.His36Leu)
c.146A>T (p.His49Leu)
c.158A>T (p.His53Leu)
c.27+1766A>T (n.27+1766A>T)
c.152A>T (p.His51Leu)
c.140A>T (p.His47Leu)
c.245A>T (p.His82Leu)
c.134A>T (p.His45Leu)

Number of alleles fetched