Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.72218586_72218587delinsTG | CA1981892132 | FOLR2 | c.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=) | |
11 | g.72218587G>A | CA381743350 | FOLR2 | c.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) | |
11 | g.72218587G>C | CA381743348 | FOLR2 | c.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) | |
11 | g.72218587G= | CA1981892135 | FOLR2 | c.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=) | |
11 | g.72218587G>T | CA381743353 | FOLR2 | c.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 |
11 | g.72218588del | CA1981892134 | FOLR2 | c.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 |
11 | g.72218588G>A | CA381743356 | FOLR2 | c.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 |
11 | g.72218588G>C | CA381743358 | FOLR2 | c.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) | |
11 | g.72218588G= | CA1981892136 | FOLR2 | c.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=) | |
11 | g.72218588G>T | CA381743361 | FOLR2 | c.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) | |
11 | g.72218589T>A | CA381743363 | FOLR2 | c.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 |
11 | g.72218589T>C | CA381743365 | FOLR2 | c.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) | |
11 | g.72218589T>G | CA381743367 | FOLR2 | c.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) | |
11 | g.72218590C>A | CA475605728 | FOLR2 | c.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=) | |
11 | g.72218590C>G | CA475605708 | FOLR2 | c.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=) | |
11 | g.72218590C>T | CA475605724 | FOLR2 | c.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 |
11 | g.72218591T>A | CA381743368 | FOLR2 | c.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) | |
11 | g.72218591T>C | CA381743369 | FOLR2 | c.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 |
11 | g.72218591T>G | CA381743371 | FOLR2 | c.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) | |
11 | g.72218592G>A | CA381743378 | FOLR2 | c.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) | |
11 | g.72218592G>C | CA381743380 | FOLR2 | c.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) | |
11 | g.72218592G>T | CA381743382 | FOLR2 | c.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) | |
11 | g.72218593G>A | CA381743391 | FOLR2 | c.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 |
11 | g.72218593G>C | CA381743385 | FOLR2 | c.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) | |
11 | g.72218593G>T | CA381743387 | FOLR2 | c.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) | |
11 | g.72218594A>C | CA381743394 | FOLR2 | c.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) | |
11 | g.72218594A>G | CA381743398 | FOLR2 | c.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) | |
11 | g.72218594A>T | CA381743400 | FOLR2 | c.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) | |
11 | g.72218595A>C | CA381743403 | FOLR2 | c.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) | |
11 | g.72218595A>G | CA381743406 | FOLR2 | c.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) | |
11 | g.72218595A>T | CA381743407 | FOLR2 | c.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) | |
11 | g.72218596A>C | CA381743408 | FOLR2 | c.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) | |
11 | g.72218596A>G | CA475605782 | FOLR2 | c.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=) | |
11 | g.72218596A>T | CA381743409 | FOLR2 | c.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) | |
11 | g.72218597T>A | CA381743413 | FOLR2 | c.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 |
11 | g.72218597T>C | CA381743415 | FOLR2 | c.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) | |
11 | g.72218597T>G | CA381743421 | FOLR2 | c.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 |
11 | g.72218597T= | CA1981892137 | FOLR2 | c.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=) | |
11 | g.72218598G>A | CA381743423 | FOLR2 | c.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) | |
11 | g.72218598G>C | CA381743425 | FOLR2 | c.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) | |
11 | g.72218598G= | CA1981892138 | FOLR2 | c.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=) | |
11 | g.72218598G>T | CA224424515 | FOLR2 | c.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 |
11 | g.72218599G>A | CA381743426 | FOLR2 | c.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 |
11 | g.72218599G>C | CA381743427 | FOLR2 | c.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) | |
11 | g.72218599G>T | CA381743433 | FOLR2 | c.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) | |
11 | g.72218600A>C | CA381743438 | FOLR2 | c.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) | |
11 | g.72218600A>G | CA381743441 | FOLR2 | c.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) | |
11 | g.72218600A>T | CA381743443 | FOLR2 | c.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) | |
11 | g.72218601T>A | CA381743449 | FOLR2 | c.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) | |
11 | g.72218601T>C | CA381743452 | FOLR2 | c.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) |