Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72218586_72218587delinsTGCA1981892132FOLR2c.2_3delinsTG (p.Met1=)
c.41_42delinsTG (p.Met14=)
c.53_54delinsTG (p.Met18=)
c.27+1661_27+1662delinsTG (n.27+1661_27+1662delinsTG)
c.47_48delinsTG (p.Met16=)
c.35_36delinsTG (p.Met12=)
c.140_141delinsTG (p.Met47=)
c.29_30delinsTG (p.Met10=)
11g.72218587G>ACA381743350FOLR2c.3G>A (p.Met1Ile)
c.42G>A (p.Met14Ile)
c.54G>A (p.Met18Ile)
c.27+1662G>A (n.27+1662G>A)
c.48G>A (p.Met16Ile)
c.36G>A (p.Met12Ile)
c.141G>A (p.Met47Ile)
c.30G>A (p.Met10Ile)
11g.72218587G>CCA381743348FOLR2c.3G>C (p.Met1Ile)
c.42G>C (p.Met14Ile)
c.54G>C (p.Met18Ile)
c.27+1662G>C (n.27+1662G>C)
c.48G>C (p.Met16Ile)
c.36G>C (p.Met12Ile)
c.141G>C (p.Met47Ile)
c.30G>C (p.Met10Ile)
11g.72218587G=CA1981892135FOLR2c.3G= (p.Met1=)
c.42G= (p.Met14=)
c.54G= (p.Met18=)
c.27+1662G= (n.27+1662G=)
c.48G= (p.Met16=)
c.36G= (p.Met12=)
c.141G= (p.Met47=)
c.30G= (p.Met10=)
11g.72218587G>TCA381743353FOLR2c.3G>T (p.Met1Ile)
c.42G>T (p.Met14Ile)
c.54G>T (p.Met18Ile)
c.27+1662G>T (n.27+1662G>T)
c.48G>T (p.Met16Ile)
c.36G>T (p.Met12Ile)
c.141G>T (p.Met47Ile)
c.30G>T (p.Met10Ile)
dbSNP gnomAD v3 gnomAD v4
11g.72218588delCA1981892134FOLR2c.4del (p.Val2SerfsTer14)
c.43del (p.Val15SerfsTer14)
c.55del (p.Val19SerfsTer14)
c.27+1663del (n.27+1663del)
c.49del (p.Val17SerfsTer14)
c.37del (p.Val13SerfsTer14)
c.142del (p.Val48SerfsTer14)
c.31del (p.Val11SerfsTer14)
dbSNP gnomAD v4
11g.72218588G>ACA381743356FOLR2c.4G>A (p.Val2Ile)
c.43G>A (p.Val15Ile)
c.55G>A (p.Val19Ile)
c.27+1663G>A (n.27+1663G>A)
c.49G>A (p.Val17Ile)
c.37G>A (p.Val13Ile)
c.142G>A (p.Val48Ile)
c.31G>A (p.Val11Ile)
dbSNP gnomAD v2 gnomAD v4
11g.72218588G>CCA381743358FOLR2c.4G>C (p.Val2Leu)
c.43G>C (p.Val15Leu)
c.55G>C (p.Val19Leu)
c.27+1663G>C (n.27+1663G>C)
c.49G>C (p.Val17Leu)
c.37G>C (p.Val13Leu)
c.142G>C (p.Val48Leu)
c.31G>C (p.Val11Leu)
11g.72218588G=CA1981892136FOLR2c.4G= (p.Val2=)
c.43G= (p.Val15=)
c.55G= (p.Val19=)
c.27+1663G= (n.27+1663G=)
c.49G= (p.Val17=)
c.37G= (p.Val13=)
c.142G= (p.Val48=)
c.31G= (p.Val11=)
11g.72218588G>TCA381743361FOLR2c.4G>T (p.Val2Phe)
c.43G>T (p.Val15Phe)
c.55G>T (p.Val19Phe)
c.27+1663G>T (n.27+1663G>T)
c.49G>T (p.Val17Phe)
c.37G>T (p.Val13Phe)
c.142G>T (p.Val48Phe)
c.31G>T (p.Val11Phe)
11g.72218589T>ACA381743363FOLR2c.5T>A (p.Val2Asp)
c.44T>A (p.Val15Asp)
c.56T>A (p.Val19Asp)
c.27+1664T>A (n.27+1664T>A)
c.50T>A (p.Val17Asp)
c.38T>A (p.Val13Asp)
c.143T>A (p.Val48Asp)
c.32T>A (p.Val11Asp)
gnomAD v4
11g.72218589T>CCA381743365FOLR2c.5T>C (p.Val2Ala)
c.44T>C (p.Val15Ala)
c.56T>C (p.Val19Ala)
c.27+1664T>C (n.27+1664T>C)
c.50T>C (p.Val17Ala)
c.38T>C (p.Val13Ala)
c.143T>C (p.Val48Ala)
c.32T>C (p.Val11Ala)
11g.72218589T>GCA381743367FOLR2c.5T>G (p.Val2Gly)
c.44T>G (p.Val15Gly)
c.56T>G (p.Val19Gly)
c.27+1664T>G (n.27+1664T>G)
c.50T>G (p.Val17Gly)
c.38T>G (p.Val13Gly)
c.143T>G (p.Val48Gly)
c.32T>G (p.Val11Gly)
11g.72218590C>ACA475605728FOLR2c.6C>A (p.Val2=)
c.45C>A (p.Val15=)
c.57C>A (p.Val19=)
c.27+1665C>A (n.27+1665C>A)
c.51C>A (p.Val17=)
c.39C>A (p.Val13=)
c.144C>A (p.Val48=)
c.33C>A (p.Val11=)
11g.72218590C>GCA475605708FOLR2c.6C>G (p.Val2=)
c.45C>G (p.Val15=)
c.57C>G (p.Val19=)
c.27+1665C>G (n.27+1665C>G)
c.51C>G (p.Val17=)
c.39C>G (p.Val13=)
c.144C>G (p.Val48=)
c.33C>G (p.Val11=)
11g.72218590C>TCA475605724FOLR2c.6C>T (p.Val2=)
c.45C>T (p.Val15=)
c.57C>T (p.Val19=)
c.27+1665C>T (n.27+1665C>T)
c.51C>T (p.Val17=)
c.39C>T (p.Val13=)
c.144C>T (p.Val48=)
c.33C>T (p.Val11=)
COSMIC
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)

Number of alleles fetched