Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52028019A>CCA356875850SGCBc.702T>G (p.Ile234Met)
c.405T>G (p.Ile135Met)
c.492T>G (p.Ile164Met)
4g.52028019A>GCA439273673SGCBc.702T>C (p.Ile234=)
c.405T>C (p.Ile135=)
c.492T>C (p.Ile164=)
COSMIC
4g.52028019A>TCA439273674SGCBc.702T>A (p.Ile234=)
c.405T>A (p.Ile135=)
c.492T>A (p.Ile164=)
4g.52028022_52028025delCA16040953SGCBc.699_702del (p.Phe233LeufsTer16)
c.402_405del (p.Phe134LeufsTer16)
c.489_492del (p.Phe163LeufsTer16)
ClinVar dbSNP
4g.52028020A>CCA356875851SGCBc.701T>G (p.Ile234Ser)
c.404T>G (p.Ile135Ser)
c.491T>G (p.Ile164Ser)
4g.52028020A>GCA356875852SGCBc.701T>C (p.Ile234Thr)
c.404T>C (p.Ile135Thr)
c.491T>C (p.Ile164Thr)
4g.52028020A>TCA356875853SGCBc.701T>A (p.Ile234Asn)
c.404T>A (p.Ile135Asn)
c.491T>A (p.Ile164Asn)
4g.52028021T>ACA356875854SGCBc.700A>T (p.Ile234Phe)
c.403A>T (p.Ile135Phe)
c.490A>T (p.Ile164Phe)
4g.52028021T>CCA356875856SGCBc.700A>G (p.Ile234Val)
c.403A>G (p.Ile135Val)
c.490A>G (p.Ile164Val)
gnomAD
4g.52028021T>GCA356875855SGCBc.700A>C (p.Ile234Leu)
c.403A>C (p.Ile135Leu)
c.490A>C (p.Ile164Leu)
4g.52028022G>ACA439273677SGCBc.699C>T (p.Phe233=)
c.402C>T (p.Phe134=)
c.489C>T (p.Phe163=)
4g.52028022G>CCA356875857SGCBc.699C>G (p.Phe233Leu)
c.402C>G (p.Phe134Leu)
c.489C>G (p.Phe163Leu)
4g.52028022G>TCA356875858SGCBc.699C>A (p.Phe233Leu)
c.402C>A (p.Phe134Leu)
c.489C>A (p.Phe163Leu)
4g.52028023A>CCA356875859SGCBc.698T>G (p.Phe233Cys)
c.401T>G (p.Phe134Cys)
c.488T>G (p.Phe163Cys)
4g.52028023A>GCA356875860SGCBc.698T>C (p.Phe233Ser)
c.401T>C (p.Phe134Ser)
c.488T>C (p.Phe163Ser)
ClinVar
4g.52028023A>TCA356875861SGCBc.698T>A (p.Phe233Tyr)
c.401T>A (p.Phe134Tyr)
c.488T>A (p.Phe163Tyr)
4g.52028024A>CCA356875973SGCBc.697T>G (p.Phe233Val)
c.400T>G (p.Phe134Val)
c.487T>G (p.Phe163Val)
4g.52028024A>GCA356875975SGCBc.697T>C (p.Phe233Leu)
c.400T>C (p.Phe134Leu)
c.487T>C (p.Phe163Leu)
4g.52028024A>TCA356875977SGCBc.697T>A (p.Phe233Ile)
c.400T>A (p.Phe134Ile)
c.487T>A (p.Phe163Ile)
4g.52028026_52028035delCA2918315SGCBc.688_697del (p.Glu230SerfsTer17)
c.391_400del (p.Glu131SerfsTer17)
c.478_487del (p.Glu160SerfsTer17)
dbSNP ExAC gnomAD
4g.52028025T>ACA439273742SGCBc.696A>T (p.Val232=)
c.399A>T (p.Val133=)
c.486A>T (p.Val162=)
4g.52028025T>CCA439273743SGCBc.696A>G (p.Val232=)
c.399A>G (p.Val133=)
c.486A>G (p.Val162=)
4g.52028025T>GCA439273744SGCBc.696A>C (p.Val232=)
c.399A>C (p.Val133=)
c.486A>C (p.Val162=)
4g.52028026A>CCA356875983SGCBc.695T>G (p.Val232Gly)
c.398T>G (p.Val133Gly)
c.485T>G (p.Val162Gly)
4g.52028026A>GCA2918316SGCBc.695T>C (p.Val232Ala)
c.398T>C (p.Val133Ala)
c.485T>C (p.Val162Ala)
dbSNP ExAC gnomAD
4g.52028026A>TCA356875980SGCBc.695T>A (p.Val232Glu)
c.398T>A (p.Val133Glu)
c.485T>A (p.Val162Glu)
4g.52028027C>ACA356875985SGCBc.694G>T (p.Val232Leu)
c.397G>T (p.Val133Leu)
c.484G>T (p.Val162Leu)
4g.52028027C>GCA356875987SGCBc.694G>C (p.Val232Leu)
c.397G>C (p.Val133Leu)
c.484G>C (p.Val162Leu)
4g.52028027C>TCA356875988SGCBc.694G>A (p.Val232Ile)
c.397G>A (p.Val133Ile)
c.484G>A (p.Val162Ile)
gnomAD
4g.52028028A>CCA439273746SGCBc.693T>G (p.Gly231=)
c.396T>G (p.Gly132=)
c.483T>G (p.Gly161=)
4g.52028028A>GCA439273747SGCBc.693T>C (p.Gly231=)
c.396T>C (p.Gly132=)
c.483T>C (p.Gly161=)
4g.52028028A>TCA439273748SGCBc.693T>A (p.Gly231=)
c.396T>A (p.Gly132=)
c.483T>A (p.Gly161=)
4g.52028029C>ACA356875991SGCBc.692G>T (p.Gly231Val)
c.395G>T (p.Gly132Val)
c.482G>T (p.Gly161Val)
COSMIC
4g.52028029C>GCA356875992SGCBc.692G>C (p.Gly231Ala)
c.395G>C (p.Gly132Ala)
c.482G>C (p.Gly161Ala)
4g.52028029C>TCA2918317SGCBc.692G>A (p.Gly231Asp)
c.395G>A (p.Gly132Asp)
c.482G>A (p.Gly161Asp)
dbSNP ExAC gnomAD
4g.52028030C>ACA356875997SGCBc.691G>T (p.Gly231Cys)
c.394G>T (p.Gly132Cys)
c.481G>T (p.Gly161Cys)
4g.52028030C>GCA356875999SGCBc.691G>C (p.Gly231Arg)
c.394G>C (p.Gly132Arg)
c.481G>C (p.Gly161Arg)
4g.52028030C>TCA356876001SGCBc.691G>A (p.Gly231Ser)
c.394G>A (p.Gly132Ser)
c.481G>A (p.Gly161Ser)
4g.52028031T>ACA356876003SGCBc.690A>T (p.Glu230Asp)
c.393A>T (p.Glu131Asp)
c.480A>T (p.Glu160Asp)
4g.52028031T>CCA439273750SGCBc.690A>G (p.Glu230=)
c.393A>G (p.Glu131=)
c.480A>G (p.Glu160=)
4g.52028031T>GCA356876006SGCBc.690A>C (p.Glu230Asp)
c.393A>C (p.Glu131Asp)
c.480A>C (p.Glu160Asp)
4g.52028032T>ACA356876011SGCBc.689A>T (p.Glu230Val)
c.392A>T (p.Glu131Val)
c.479A>T (p.Glu160Val)
4g.52028032T>CCA356876010SGCBc.689A>G (p.Glu230Gly)
c.392A>G (p.Glu131Gly)
c.479A>G (p.Glu160Gly)
4g.52028032T>GCA356876008SGCBc.689A>C (p.Glu230Ala)
c.392A>C (p.Glu131Ala)
c.479A>C (p.Glu160Ala)
4g.52028033C>ACA356876014SGCBc.688G>T (p.Glu230Ter)
c.391G>T (p.Glu131Ter)
c.478G>T (p.Glu160Ter)
4g.52028033C>GCA356876016SGCBc.688G>C (p.Glu230Gln)
c.391G>C (p.Glu131Gln)
c.478G>C (p.Glu160Gln)
4g.52028033C>TCA356876017SGCBc.688G>A (p.Glu230Lys)
c.391G>A (p.Glu131Lys)
c.478G>A (p.Glu160Lys)
4g.52028034A>CCA356876020SGCBc.687T>G (p.Asn229Lys)
c.390T>G (p.Asn130Lys)
c.477T>G (p.Asn159Lys)
4g.52028034A>GCA2918318SGCBc.687T>C (p.Asn229=)
c.390T>C (p.Asn130=)
c.477T>C (p.Asn159=)
dbSNP ExAC gnomAD
4g.52028034A>TCA356876023SGCBc.687T>A (p.Asn229Lys)
c.390T>A (p.Asn130Lys)
c.477T>A (p.Asn159Lys)

Number of alleles fetched